WorldWideScience

Sample records for neurodevelopmental concerns individuals

  1. Counseling Concerns for the Individual with Bulimia.

    Science.gov (United States)

    Leclair, Norma J; Berkowitz, Belinda

    1983-01-01

    Presents characteristics, medical concerns, treatment alternatives, and family issues for counselors working with nonhospitalized clients. Emphasis is placed on attending the interaction of the behavioral, cognitive, and affective domains in the client. Counselors should use interventions based on theory and research. (Author/JAC)

  2. Death Concerns among Individuals Newly Diagnosed with Lung Cancer

    Science.gov (United States)

    Lehto, Rebecca; Therrien, Barbara

    2010-01-01

    Confronting the reality of death is an important challenge for individuals facing life-threatening illness such as lung cancer, the leading cause of cancer death. Few studies, however, document the nature of death-related concerns in individuals newly diagnosed with lung cancer. The aims of this exploratory study were to examine unsolicited…

  3. Death Concerns Among Individuals Newly Diagnosed with Lung Cancer

    Science.gov (United States)

    Therrien, Barbara

    2010-01-01

    Confronting the reality of death is an important challenge for individuals facing life-threatening illness such as lung cancer, the leading cause of cancer death. Few studies, however, document the nature of death-related concerns in individuals newly diagnosed with lung cancer. The aims of this exploratory study were to examine unsolicited death-related concerns among newly diagnosed individuals, and to determine if age, gender, marital status, stage of disease, type of treatment, presence of co-morbid conditions, and Veteran status were related to extent of death concerns. A mixed method approach was used to examine death concerns in 73 individuals newly diagnosed with non-small cell lung cancer. Seven categories related to death were identified: psychological preparation; time left; impact; behavioral preparation; acceptance; cancer death experiences; and post-death. Stage of disease and Veteran status were factors that were related to increased numbers of death-related content. Findings demonstrate that death concerns are varied, primarily negative, and are relevant to the person facing a new lung cancer diagnosis, thus highlighting the importance for health care providers to assess, discuss, and listen for death concerns in the acute care setting. PMID:21170169

  4. A three-center, randomized, controlled trial of individualized developmental care for very low birth weight preterm infants: medical, neurodevelopmental, parenting, and caregiving effects.

    NARCIS (Netherlands)

    Als, H.; Gilkerson, L.; Duffy, F.H.; McAnulty, G.B.; Buehler, D.M.; Berg, K. van den; Sweet, N.; Sell, E.; Parad, R.B.; Ringer, S.A.; Butler, S.C.; Blickman, J.G.; Jones, K.J.

    2004-01-01

    Medical, neurodevelopmental, and parenting effects of individualized developmental care were investigated in a three-center, randomized, controlled trial. A total of 92 preterm infants, weighing less than 1250 g and aged less than 28 weeks, participated. Outcome measures included medical,

  5. The relevance of the individual genetic background for the toxicokinetics of two significant neurodevelopmental toxicants: mercury and lead.

    Science.gov (United States)

    Gundacker, Claudia; Gencik, Martin; Hengstschläger, Markus

    2010-10-01

    The heavy metals mercury and lead are well-known and significant developmental neurotoxicants. This review summarizes the genetic factors that modify their toxicokinetics. Understanding toxicokinetics (uptake, biotransformation, distribution, and elimination processes) is a key precondition to understanding the individual health risks associated with exposure. We selected candidate susceptibility genes when evidence was available for (1) genes/proteins playing a significant role in mercury and lead toxicokinetics, (2) gene expression/protein activity being induced by these metals, and (3) mercury and lead toxicokinetics being affected by gene knockout/knockdown or (4) by functional gene polymorphisms. The genetic background is far better known for mercury than for lead toxicokinetics. Involved are genes encoding L-type amino acid transporters, organic anion transporters, glutathione (GSH)-related enzymes, metallothioneins, and transporters of the ABC family. Certain gene variants can influence mercury toxicokinetics, potentially explaining part of the variable susceptibility to mercury toxicity. Delta-aminolevulinic acid dehydratase (ALAD), vitamin D receptor (VDR) and hemochromatosis (HFE) gene variants are the only well-established susceptibility markers of lead toxicity in humans. Many gaps remain in our knowledge about the functional genomics of this issue. This calls for studies to detect functional gene polymorphisms related to mercury- and lead-associated disease phenotypes, to demonstrate the impact of functional polymorphisms and gene knockout/knockdown in relation to toxicity, to confirm the in vivo relevance of genetic variation, and to examine gene-gene interactions on the respective toxicokinetics. Another crucial aspect is knowledge on the maternal-fetal genetic background, which modulates fetal exposure to these neurotoxicants. To completely define the genetically susceptible risk groups, research is also needed on the genes/proteins involved in the

  6. Sleep in Neurodevelopmental Disorders

    Science.gov (United States)

    Esbensen, Anna J; Schwichtenberg, Amy J

    2017-01-01

    Individuals with intellectual and developmental disabilities (IDD) experience sleep problems at higher rates than the general population. Although individuals with IDD are a heterogeneous group, several sleep problems cluster within genetic syndromes or disorders. This review summarizes the prevalence of sleep problems experienced by individuals with Angelman syndrome, Cornelia de Lange syndrome, Cri du Chat syndrome, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Smith-Magenis syndrome, Williams syndrome, autism spectrum disorder, and idiopathic IDD. Factors associated with sleep problems and the evidence for sleep treatments are reviewed for each neurodevelopmental disorder. Sleep research advancements in neurodevelopmental disorders are reviewed, including the need for consistency in defining and measuring sleep problems, considerations for research design and reporting of results, and considerations when evaluating sleep treatments. PMID:28503406

  7. Inter-rater Reliability on the Individual Music-Centered Assessment Profile forNeurodevelopmental Disorders: (IMCAP-ND) for Autism Spectrum Disorder

    DEFF Research Database (Denmark)

    Carpente, John; Manne, Stela; Gattino, Gustavo

    2018-01-01

    Background: The Individual Music-Centered Assessment Profile for Neurodevelopmental Disorders (IMCAP-ND) is an evaluation instrument made up of three criterion-referenced rating scales designed to examine how clients perceive, interpret, and make music with the therapist while participating...... in individual improvisational music therapy. For this assessment instrument to be considered clinically relevant, it is essential to examine the degree of inter-rater reliability for each of the three rating scales. Objective: The purposes of this study are as follows: a) to determine the inter......-rater reliability of the three scales that make up the IMCAP-ND: Scale I: Musical Emotional Assessment Rating Scale (MEARS), Scale II: Musical Cognitive Perception Scale (MCPS), and Scale III: Musical Responsive Scale (MRS); b) to examine the inter-rater reliabilities of the unweighted and weighted overall MEARS...

  8. Does concern about halitosis influence individual's oral hygiene practices?

    Science.gov (United States)

    Azodo, C. C.; Onyeagba, M. I.; Odai, C. D.

    2011-01-01

    Objective: The objective of this study was to assess whether the concern about halitosis influence oral health attitude and practices among young literate adults in Nigeria. Materials and Methods: This cross-sectional survey of 400 randomly selected temporary camp resident adults in Anambra state, South Eastern Nigeria was conducted using a modified version of the Hiroshima University-Dental Behavioral Inventory questionnaire. Results: Out of the 400 questionnaires distributed, only 294 were filled and returned giving an overall response rate of 73.5%. Half (50.0%) of the participants in this study expressed concern about halitosis. The participants that expressed concern about halitosis were mostly in the 25- to 27-year-old age group, females, known smoker, regular dental floss, and mouth wash users, had incorrect tooth brushing knowledge, brushed teeth more frequently and more forcefully, had no previous dental treatment, prefer symptomatic dental visit, experienced gingival bleeding, expressed worry about the color of their gingiva and teeth but were satisfied with the dental appearance. Conclusion: Data from this study showed that concerns about halitosis-triggered behavioral reaction in oral self-care practices namely tooth brushing frequency, tooth brushing force, mouth wash, and dental floss use. Also revealed were poorer oral health and lower preventive dental visit practices among participants concerned about halitosis. There is need for improved public knowledge and awareness about halitosis by the dentist in Nigeria. PMID:22529509

  9. Does concern about halitosis influence individual's oral hygiene ...

    African Journals Online (AJOL)

    Objective: The objective of this study was to assess whether the concern about halitosis influence oral health attitude and practices among young literate adults in Nigeria. Materials and Methods: This cross-sectional survey of 400 randomly selected temporary camp resident adults in Anambra state, South Eastern Nigeria ...

  10. FEATURES CONCERNING THE ESTABLISHMENT OF AUTHORIZED INDIVIDUAL AND FAMILY FIRMS

    Directory of Open Access Journals (Sweden)

    CLAUDIA ISAC

    2014-12-01

    Full Text Available This paper presents recent legislative changes relating to the establishment and organization of small firms as: The individual firm, the family firm, Authorized individuals (PFA. Thus, in the first part of the paper I present the main features and advantages of the three types of firms, and a comparison between them. The paper continues with the necessary documents for setting up the companies and highlights their role in economic advances. In the second part of the paper, I did a statistical analysis of the evolution of the number of firms of this type and the sectors in which they operate.

  11. Internet Use and Cybersecurity Concerns of Individuals with Visual Impairments

    Science.gov (United States)

    Inan, Fethi A.; Namin, Akbar S.; Pogrund, Rona L.; Jones, Keith S.

    2016-01-01

    Twenty individuals with visual impairments were surveyed in order to (a) understand their Internet use and (b) examine relations between metrics related to Internet use and cybersecurity-related knowledge, skills, confidence, and attitudes. Participants used the Internet for various purposes, including information search, communication, chatting,…

  12. Individual versus Organizational Computer Security and Privacy Concerns in Journalism

    Directory of Open Access Journals (Sweden)

    McGregor Susan E.

    2016-10-01

    Full Text Available A free and open press is a critical piece of the civil-society infrastructure that supports both established and emerging democracies. However, as the professional activities of reporting and publishing are increasingly conducted by digital means, computer security and privacy risks threaten free and independent journalism around the globe. Through interviews with 15 practicing journalists and 14 organizational stakeholders (supervising editors and technologists, we reveal the distinct - and sometimes conflicting-computer security concerns and priorities of different stakeholder groups within journalistic institutions, as well as unique issues in journalism compared to other types of organizations. As these concerns have not been deeply studied by those designing computer security practices or technologies that may benefit journalism, this research offers insight into some of the practical and cultural constraints that can limit the computer security and privacy practices of the journalism community as a whole. Based on these findings, we suggest paths for future research and development that can bridge these gaps through new tools and practices.

  13. Implicit theories concerning the intelligence of individuals with Down syndrome.

    Directory of Open Access Journals (Sweden)

    Claire Enea-Drapeau

    Full Text Available Studies over the past three decades have shown that learning difficulties are not only determined by neurological disorders, but also by motivational and/or socio-cognitive factors Among these factors, implicit theories of intelligence (also referred to as conceptions, mindsets or beliefs about intelligence are key elements. The belief that intelligence is fixed (entity theory, as opposed to malleable (incremental theory, is generally associated with negative teaching practices and poorer student outcomes, yet beliefs about the intelligence of individuals with intellectual disabilities have not received much attention. We propose the first study on conceptions of intelligence of persons with intellectual disabilities, here people with Down syndrome. Participants were 55 professionally qualified people working with individuals with intellectual disabilities and 81 adults from the community. We compared what both groups of participants believe about intelligence of typical people and what they believe about the intelligence of individuals with Down syndrome. We also investigated implicit theories of intelligence as predictors of explicit judgments about intelligence and implicit attitudes toward people with Down syndrome. Whatever the work experience in the field of intellectual disability, implicit theories of intelligence were found to be less incremental when considering people with Down syndrome than when considering typical people; and the stronger the belief in entity theory, the more negative (and less positive the judgments expressed explicitly. Implicit theories of intelligence were also found to be predictors of negative implicit attitude but only in adults from the community. These findings offer prospects for improving practices by people working in the field of intellectual disability. They might interest a wide range of people caring for people with intellectual disabilities, such as teachers, but also other professional caregivers

  14. Neurobehavioral and neurodevelopmental effects of pesticide exposures

    NARCIS (Netherlands)

    London, L.; Beseler, C.; Bouchard, M.F.; Bellinger, D.C.; Colosio, C.; Grandjean, P.; Harari, R.; Kootbodien, T.; Kromhout, H.|info:eu-repo/dai/nl/074385224; Little, F.; Meijster, T.; Moretto, A.; Rohlman, D.S.; Stallones, L.

    2012-01-01

    The association between pesticide exposure and neurobehavioral and neurodevelopmental effects is an area of increasing concern. This symposium brought together participants to explore the neurotoxic effects of pesticides across the lifespan. Endpoints examined included neurobehavioral, affective and

  15. Neurobehavioral and neurodevelopmental effects of pesticide exposures

    DEFF Research Database (Denmark)

    London, Leslie; Beseler, Cheryl; Bouchard, Maryse F

    2012-01-01

    The association between pesticide exposure and neurobehavioral and neurodevelopmental effects is an area of increasing concern. This symposium brought together participants to explore the neurotoxic effects of pesticides across the lifespan. Endpoints examined included neurobehavioral, affective ...

  16. Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders

    Directory of Open Access Journals (Sweden)

    Karen S. Ho

    2016-12-01

    Full Text Available Copy number variants (CNVs detected by chromosomal microarray analysis (CMA significantly contribute to understanding the etiology of autism spectrum disorder (ASD and other related conditions. In recognition of the value of CMA testing and its impact on medical management, CMA is in medical guidelines as a first-tier test in the evaluation of children with these disorders. As CMA becomes adopted into routine care for these patients, it becomes increasingly important to report these clinical findings. This study summarizes the results of over 4 years of CMA testing by a CLIA-certified clinical testing laboratory. Using a 2.8 million probe microarray optimized for the detection of CNVs associated with neurodevelopmental disorders, we report an overall CNV detection rate of 28.1% in 10,351 consecutive patients, which rises to nearly 33% in cases without ASD, with only developmental delay/intellectual disability (DD/ID and/or multiple congenital anomalies (MCA. The overall detection rate for individuals with ASD is also significant at 24.4%. The detection rate and pathogenic yield of CMA vary significantly with the indications for testing, age, and gender, as well as the specialty of the ordering doctor. We note discrete differences in the most common recurrent CNVs found in individuals with or without a diagnosis of ASD.

  17. Treatments for Neurodevelopmental Disorders

    DEFF Research Database (Denmark)

    Di Pietro, Nina C; Whiteley, Louise Emma; Mizgalewicz, Ania

    2013-01-01

    The Internet is a major source of health-related information for parents of sick children despite concerns surrounding quality. For neurodevelopmental disorders, the websites of advocacy groups are a largely unexamined source of information. We evaluated treatment information posted on nine highly......-trafficked advocacy websites for autism, cerebral palsy, and fetal alcohol spectrum disorder. We found that the majority of claims about treatment safety and efficacy were unsubstantiated. Instead, a range of rhetorical strategies were used to imply scientific support. When peer-reviewed publications were cited, 20...... % were incorrect or irrelevant. We call for new partnerships between advocacy and experts in developmental disorders to ensure better accuracy and higher transparency about how treatment information is selected and evidenced on advocacy websites....

  18. ACE: Health - Neurodevelopmental Disorders

    Science.gov (United States)

    Information about children reported to have ever been diagnosed with four different neurodevelopmental disorders: attention-deficit/hyperactivity disorder (ADHD), learning disabilities, autism, and intellectual disability.

  19. Neurodevelopmental hypothesis of schizophrenia

    National Research Council Canada - National Science Library

    Owen, Michael J; O'Donovan, Michael C; Thapar, Anita; Craddock, Nicholas

    2011-01-01

    The neurodevelopmental hypothesis of schizophrenia provided a valuable framework that allowed a condition that usually presents with frank disorder in adolescence or early adulthood to be understood...

  20. Neurobehavioural and neurodevelopmental effects of pesticide exposures

    Science.gov (United States)

    London, Leslie; Beseler, Cheryl; Bouchard, Maryse F.; Bellinger, David C.; Colosio, Claudio; Grandjean, Philippe; Harari, Raul; Kootbodien, Tahira; Kromhout, Hans; Little, Francesca; Meijster, Tim; Moretto, Angelo; Rohlman, Diane S.; Stallones, Lorann

    2012-01-01

    The association between pesticide exposure and neurobehavioral and neurodevelopmental effects is an area of increasing concern. This symposium brought together participants to explore the neurotoxic effects of pesticides across the lifespan. Endpoints examined included neurobehavioral, affective and neurodevelopmental outcomes amongst occupational (both adolescent and adult workers) and non-occupational populations (children). The symposium discussion highlighted many challenges for researchers concerned with the prevention of neurotoxic illness due to pesticides and generated a number of directions for further research and policy interventions for the protection of human health, highlighting the importance of examining potential long-term effects across the lifespan arising from early adolescent, childhood or pre-natal exposure. PMID:22269431

  1. Uniting individual and collective concerns through design: Priming across the senses

    DEFF Research Database (Denmark)

    Cash, Philip; Holm-Hansen, Christopher; Olsen, Sebastian Borum

    2017-01-01

    that unite individual and collective concerns. Two studies are reported. In the first, abstract representations of the target behaviour are elicited and incorporated into subconscious priming stimuli for each of the major senses: sight, hearing, touch, and smell. These primes are then evaluated...

  2. Online social support for individuals concerned with heart disease: observing gender differences.

    OpenAIRE

    Bjornsdottir, G.

    1999-01-01

    Using a theoretical framework of social support, and content analysis, the content and pattern of support in messages posted in a 4-week period on a commercial health network for individuals concerned with heart disease were observed and described. Special consideration was given to identifying gender differences.

  3. Embodied terror management: interpersonal touch alleviates existential concerns among individuals with low self-esteem.

    Science.gov (United States)

    Koole, Sander L; Tjew A Sin, Mandy; Schneider, Iris K

    2014-01-01

    Individuals with low (rather than high) self-esteem often struggle with existential concerns. In the present research, we examined whether these existential concerns may be alleviated by seemingly trivial experiences of both real and simulated interpersonal touch. A brief touch on the shoulder by a female experimenter led individuals with low self-esteem to experience less death anxiety (Study 1) and more social connectedness after a death reminder (Study 2). Reminding individuals with low self-esteem of death increased their desire for touch, as indicated by higher value estimates of a teddy bear, a toy animal that simulates interpersonal touch (Study 3). Finally, holding a teddy bear (vs. a cardboard box) led individuals with low self-esteem to respond to a death reminder with less defensive ethnocentrism (Study 4). Individuals with high self-esteem were unaffected by touch (Studies 1-4). These findings highlight the existential significance of embodied touch experiences, particularly for individuals with low self-esteem.

  4. Needs and concerns of transgender individuals regarding interdisciplinary transgender healthcare: A non-clinical online survey.

    Directory of Open Access Journals (Sweden)

    Jana Eyssel

    Full Text Available This study investigates the needs and concerns transgender (short: trans individuals have concerning trans healthcare (THC in interdisciplinary THC centres. Trans individuals' gender does not (fully/constantly match their sex assigned at birth. To be able to live in their gender role and to prevent or minimise gender dysphoria, they might require a multidisciplinary set of transition related healthcare services. The current shift from the traditionally highly regulated, hierarchical and pathologising approach to THC towards a more patient-centred approach has highlighted the importance of trans patients' satisfaction with treatment processes and results. As the still influential regulations have a negative effect on patient satisfaction, and might also keep trans individuals from seeking transition related treatment, it is crucial to investigate what trans individuals, whether patients or not, need and fear regarding transition related healthcare. Against the backdrop of mixed reactions received from the local trans community regarding the foundation of the Interdisciplinary Transgender Healthcare Centre Hamburg (ITHCCH, Germany, this study seeks to determine what trans individuals need with respect to THC in order to guarantee for high quality service provision at the ITHCCH. To this end, an online questionnaire was developed. The researchers employed a participatory approach to questionnaire development by involving a working group consisting of local trans support group representatives and (THC specialists (N = 4. The sample consisted of N = 415 trans-identified individuals aged between 16 and 76. Most of them were based in Germany. 85.2% (n = 382 reported experience with transition related healthcare and 72.5% (n = 301 had (additional treatments planned. Analysis revealed a need for communication and feedback opportunities. Furthermore, during the treatment process, addressing individual needs was considered crucial by participants. They

  5. To buy green or not to buy: environmental concerned companies and individuals' rewarding behaviour

    OpenAIRE

    Rodr??guez-Priego, Nuria; Montoro-R??os, Francisco J.

    2014-01-01

    The present research aim to examine individuals?? purchasing behavioural intention related with corporations who are environmental concerned. Two Structural Equations Models are proposed and tested independently for the behavioral intention or rewarding and punishing companies by buying or not their products. Results highlight the importance of increasing perceived consumer effectiveness of their energy saving actions, as well as involvement to enhance the risk perceived of global climate cha...

  6. Pediatric Neurodevelopmental Treatment

    Science.gov (United States)

    Camacho, Ricardo; McCauley, Brandon; Szczech Moser, Christy

    2016-01-01

    Over 70 years ago Dr. Karel Bobath and his wife Bertha Bobath began to craft the therapeutic intervention now known as neurodevelopmental treatment (NDT). This edition of Reviews, Tools, and Resources will highlight a historical review of research studies that have been completed, current websites, books, and blogs focusing on NDT.

  7. Neurodevelopmental Outcomes After Neonatal Surgery for Major Noncardiac Anomalies

    NARCIS (Netherlands)

    Stolwijk, Lisanne J.; Lemmers, P. M A; Harmsen, Marissa; Groenendaal, Floris; De Vries, Linda S.; Van Der Zee, David C.; Benders, Manon J N; Van Herwaarden-Lindeboom, M. Y A

    2016-01-01

    CONTEXT: Increasing concerns have been raised about the incidence of neurodevelopmental delay in children with noncardiac congenital anomalies (NCCA) requiring neonatal surgery. OBJECTIVE: This study aimed to determine the incidence and potential risk factors for developmental delay after neonatal

  8. Ageing in individuals with intellectual disability: issues and concerns in Hong Kong.

    Science.gov (United States)

    Tse, M My; Kwan, R Yc; Lau, J L

    2018-01-12

    The increasing longevity of people with intellectual disability is testimony to the positive developments in medical intervention. Nonetheless early-onset age-related issues and concerns cause deterioration of their overall well-being. This paper aimed to explore the issues and concerns about individuals with intellectual disability as they age. Articles that discussed people with intellectual disability over 30 years of age, and those that identified ageing health issues and concerns were included. Only studies reported in English from 1996 to 2016 were included. We searched PubMed, Google Scholar, and Science Direct using the terms "intellectual disability", "ageing", "cognitive impairment", "health", and "screening". Apart from the early onset of age-related health problems, dementia is more likely to develop by the age of 40 years in individuals with intellectual disability. Geriatric services to people with intellectual disability, however, are only available for those aged 60 years and older. Cognitive instruments used for the general population are not suitable for people with intellectual disability because of floor effects. In Hong Kong, the Chinese version of the Dementia Screening Questionnaire for Individuals with Intellectual Disabilities is the only validated instrument for people with intellectual disability. The use of appropriate measurement tools to monitor the progression of age-related conditions in individuals with intellectual disability is of great value. Longitudinal assessment of cognition and function in people with intellectual disability is vital to enable early detection of significant deterioration. This allows for therapeutic intervention before substantial damage to the brain occurs such as dementia that hastens cognitive and functional decline.

  9. Behaviours of concern following moderate to severe traumatic brain injury in individuals living in the community.

    Science.gov (United States)

    Hicks, A J; Gould, K R; Hopwood, M; Kenardy, J; Krivonos, I; Ponsford, J L

    2017-01-01

    Behaviours of Concern (BoC) following traumatic brain injury (TBI) have a significant negative impact on the daily functioning and quality of life for the individual and their family. However, there has been limited research examining the nature and severity of BoC beyond the acute recovery period, including the perspective of the individual with TBI as well as close others (COs). Eighty-nine individuals with predominantly severe TBI, at a mean of 11.4 years' post-injury, were identified through a no-fault accident compensation system database. Structured interviews were completed with 65 individuals with TBI, and 62 COs. Current BoC were documented using the Overt Behaviour Scale (OBS). 70.5% of participants exhibited BoC on the OBS, with an average of 3 behaviours. Verbal aggression and socially inappropriate behaviour were the most common BoC. Self-report of behaviour change was endorsed by 81% of the sample. There was generally poor concordance between the perspectives of the individual with the TBI and their CO. Severe BoC, across multiple behaviour types, may be evident many years following predominantly severe TBI. There is a need to provide long-term behaviour support for these individuals.

  10. Abnormalities in the Visual Processing of Viewing Complex Visual Stimuli Amongst Individuals With Body Image Concern.

    Science.gov (United States)

    Duncum, A J F; Atkins, K J; Beilharz, F L; Mundy, M E

    2016-01-01

    Individuals with body dysmorphic disorder (BDD) and clinically concerning body-image concern (BIC) appear to possess abnormalities in the way they perceive visual information in the form of a bias towards local visual processing. As inversion interrupts normal global processing, forcing individuals to process locally, an upright-inverted stimulus discrimination task was used to investigate this phenomenon. We examined whether individuals with nonclinical, yet high levels of BIC would show signs of this bias, in the form of reduced inversion effects (i.e., increased local processing). Furthermore, we assessed whether this bias appeared for general visual stimuli or specifically for appearance-related stimuli, such as faces and bodies. Participants with high-BIC (n = 25) and low-BIC (n = 30) performed a stimulus discrimination task with upright and inverted faces, scenes, objects, and bodies. Unexpectedly, the high-BIC group showed an increased inversion effect compared to the low-BIC group, indicating perceptual abnormalities may not be present as local processing biases, as originally thought. There was no significant difference in performance across stimulus types, signifying that any visual processing abnormalities may be general rather than appearance-based. This has important implications for whether visual processing abnormalities are predisposing factors for BDD or develop throughout the disorder.

  11. Neurodevelopmental disorders: theoretical approaches and its implications for education and rehabilitation

    Directory of Open Access Journals (Sweden)

    Maria Luísa Bissoto

    2011-06-01

    Full Text Available The neurodevelopmental disorders, mainly those genetics ones, are argued with the aim to analyze the human development conceptions that underlie these, and its impact for understanding who is the individual that carries this disorder. Methodologically, epistemological presupposition from “classical” neuropsychology and from “neuroconstructivist” neuropsychology had been compared. As results of this parallel had been considered relevant: a. the role of the individual surrounding, b. the question concerning the plasticity and dynamical character of development and c. the formal developmental process, from prenatal to postnatal period. The concluding comments claims that the Neuroconstructivist approaches allow conceiving the developmental process within genetics neurodevelopmental disorders not as a “fault” but as a differentiated and particular one. That should be understood in the Educational and Rehabilitation settings not as a nosological category but as a specific way of an individual acting while looking for a mode of being-in-the-world.

  12. PURA-related neurodevelopmental disorders

    OpenAIRE

    Reijnders, Margot R F; Leventer, Richard J; Lee, Boo Hon; Baralle, Diana; Selber, Paulo; Paciorkowski, Alex R; Hunt, David

    2017-01-01

    Clinical characteristics. PURA-related neurodevelopmental disorders include PURA syndrome, caused by a heterozygous pathogenic sequence variant in PURA, and 5q31.3 deletion syndrome, caused by a genomic 5q31.3 deletion encompassing all or part of PURA. PURA-related neurodevelopmental disorders are characterized by moderate to severe neurodevelopmental delay with absence of speech in most and lack of independent ambulation in many. Early-onset problems can include hypotonia, hypothermia, hyper...

  13. Reversing Neurodevelopmental Disorders in Adults

    National Research Council Canada - National Science Library

    Ehninger, Dan; Li, Weidong; Fox, Kevin; Stryker, Michael P; Silva, Alcino J

    2008-01-01

    .... Surprisingly, a number of recent animal model studies of neurodevelopmental disorders demonstrate that reversing the underlying molecular deficits can result in substantial improvements in function...

  14. Use of Q methodology to assess the concerns of adult female individuals seeking orthodontic treatment

    Directory of Open Access Journals (Sweden)

    Yao L

    2015-01-01

    Full Text Available Linjie Yao,1 Xingqiao Xu,2 Zhenyu Ni,3 Minling Zheng,3 Feiou Lin3 1Department of Pedodontics, 2Department of Oral and Maxillofacial Surgery, 3Department of Orthodontics, School and Hospital of Stomatology, Wenzhou Medical University, Wenzhou, People’s Republic of China Background: Orthodontic treatment may cause functional restrictions, discomfort, and pain, which may lead to dental anxiety and noncooperation among patients. This study aimed to assess the concerns of adult female patients with respect to such treatment.Patients and methods: We conducted an explorative study using Q methodology among 40 adult female patients with different educational and social backgrounds in Wenzhou, People’s Republic of China. We asked participants to rank a set of 41 statements about seeking orthodontic treatment on an 11-point scale from “agree most” to “disagree most”. The collected data were analyzed using the PQ Method 2.35 program. We extracted significant viewpoints using centroid factor extraction and varimax rotation.Results: We identified major factors based on how the patients ranked statements. Patients in group 1 worried about lack of information about orthodontic treatment, and may have suffered from dental phobia; patients in group 2 were all single women, and they were worried that the braces might lower their chances of finding a partner; patients in group 3 worried about appearance and speech with braces; and patients in group 4 worried about cost, pain, and dental hygiene. The remaining participants who had other viewpoints did not load to any of these four groups.Conclusion: The concerns of adult female individuals seeking orthodontic treatment are complex. A significant feature of this study was using Q methodology to analyze the psychological characteristics of the patients. This study identified four typical characterizations that are associated with each group, and our findings may aid orthodontists in improving doctor

  15. Neurodevelopmental correlates in schizophrenia

    Directory of Open Access Journals (Sweden)

    Ivković Maja

    2003-01-01

    Full Text Available Contemporary aetiopathogenetic considerations, based on neuro-imaging genetic and developmental neurobiology studies, suggest neurodevelopmental origin of schizophrenia. Several lines of evidence including structural abnormalities on in vivo brain imaging, the excess of prenatal and obstetric complications and the association of congenital and minor physical anomalies with schizophrenia, strongly indicate the neurodevelopmental pathogenesis of schizophrenia. On the other hand, controversial concept of psychotic continuum suggests schizophrenia and depression sharing the same genetic contribution to the pathogenesis. If this would be the case, depression could also be considered as neuro developmental disorder. The aims of the study were to investigate the association between: a pregnancy and birth complications (PBC, and b minor physical anomalies (MPA and schizophrenia or depression. Experimental groups consisted of 60 schizophrenic, 28 major depression patients and 30 healthy controls. All patients were diagnosed according to DSM-IV. Schizophrenic group was divided with regard to PANSS score into positive (n=32 and negative form (n=28 subgroups. PBC information were gathered from maternal recall while MPA were examined by using Waldrop scale for adults. The results showed that negative and positive schizophrenic subgroups had significantly more PBC than depressive group (p<0,05, as well than controls (p<0,001; p<0,05; respectively. There was no significant trend for more PBC in negative than in positive subgroup. All schizophrenic patients had higher rates of MPA than depressives (p<0,05. This trend for more MPA was not significant in comparison with healthy controls. These findings suggest that schizophrenia, especially its negative forms, could be considered as a member of the spectrum of neuro developmental disorders, which does not seem to be the case with depression. PBC and MPA could also be valuable in evaluation of risks for

  16. 75 FR 3122 - Policy Statement Concerning Cooperation by Individuals in Its Investigations and Related...

    Science.gov (United States)

    2010-01-19

    ... individual in the Investigation by considering, among other things: (1) The value of the individual's... assessed by the nature of the violations and in the context of the individual's knowledge, education... are not listed in order of importance nor are they intended to be all-inclusive or to require a...

  17. Knowledge of neurodevelopmental profile as one of the XXI century manager’s basic competences

    Directory of Open Access Journals (Sweden)

    Agnieszka Kowalczyk-Kassyk

    2011-01-01

    Full Text Available Majority of situations which man participates in are social situations, which other people attend directly or indirectly. Members of a group are connected with each other by mutual relationships system, which come into existence and change via continuous mutual influencing each other on the feedback rule. It is important to remember that the way how people behave does not only depend on their social group status. It most importantly is dependent on the type of mind they possess, as well as how they proceed with the learning process and which factors determine their individual neurodevelopmental functions. Human brain is responsible also for some disturbances in their behaviour such as: mastering the skills, assimilating facts or knowledge, carrying out defined actions, working systematical and maintaining in accurate speed, accommodation to scope of requirements, conflicts solving, reading of social information and reacting to them. Premises which are mentioned above show the fact that if we want to be an acting manager in modern company we should know the role of eight neurodevelopmental systems and treat them seriously. We are able to define and create optimal conditions for functioning of every mind and following on to form this friendly, effective organisation in which every employee can work at his own pace, using his own unique knowledge, interests and avocations by knowing his and his associates neurodevelopmental functions and having awareness of existing differences in this scope. In conclusion we can state that the XXIc manager’s role reaches far beyond the tasks which are the essence of the profession (management. It concerns such problems as: interaction optimalization between individual human and his work (good individual preferential accommodation to objective environmental requirements, thus creating advantageous organisational climate, reducing psychological costs of work, decreasing tensions, conflicts and also responsibility

  18. 17 CFR 202.12 - Policy statement concerning cooperation by individuals in its investigations and related...

    Science.gov (United States)

    2010-04-01

    ..., among other things: (1) The value of the individual's cooperation to the Investigation including, but... violations and in the context of the individual's knowledge, education, training, experience, and position of... nor are they intended to be all-inclusive or to require a specific determination in any particular...

  19. Constipation-related symptoms and bowel program concerning individuals with spinal cord injury.

    Science.gov (United States)

    Harari, D; Sarkarati, M; Gurwitz, J H; McGlinchey-Berroth, G; Minaker, K L

    1997-06-01

    To determine the prevalence of constipation-related symptoms in individuals with chronic spinal cord injury (SCI), to describe the bowel program as reported by patients and including use of bowel medications and evacuation techniques, and to examine the clinical, functional and pharmacological risks of difficulty with evacuation. This is a cross-sectional study of all in-patients at least 3 months beyond acute injury, on the West Roxbury/Brockton VAMC SCI Service, during a 10 month period (n = 197). Clinical, functional, and medication data were abstracted from medical and nursing records. Individual interviews were conducted with all available participants (n = 161, 82%) regarding bowel-related symptoms and treatment over the previous 1 month period. The study definition of difficulty with evacuation was spending more than 1 h per episode of bowel evacuation. Forty-one percent of the 161 interview responders spent more than 1 h on bowel evacuation, 50% reported abdominal distension and 38% reported abdominal pain, 27% reported headaches or sweats relieved by having a bowel movement, and 33% reported fecal incontinence at least once a month. The bisacodyl suppository was the most commonly used laxative agent, while docusate was the most popular oral agent. Subjects with difficulty with evacuation (n = 66) were compared with those who spent less than 1 h on evacuation (n = 95). Factors associated with difficulty with evacuation were tetraplegia, Frankel grade A/B, laxative use, polypharmacy, previous urinary outlet surgery, and symptoms of abdominal pain and distension. Constipation-related symptoms are highly prevalent in individuals with spinal cord injury, despite considerable laxative use. Our findings suggest that difficulty with evacuation can be predicted on the basis of a patient's clinical profile.

  20. "Too Withdrawn" or "Too Friendly": Considering Social Vulnerability in Two Neuro-Developmental Disorders

    Science.gov (United States)

    Jawaid, A.; Riby, D. M.; Owens, J.; White, S. W.; Tarar, T.; Schulz, P. E.

    2012-01-01

    In some neuro-developmental disorders, the combined effect of intellectual disability and atypicalities of social cognition may put individuals at increased vulnerability in their social environment. The neuro-developmental disorders Williams syndrome, characterised by "hypersociability", and autism spectrum disorders, characterised by "social…

  1. Drug development for neurodevelopmental disorders

    DEFF Research Database (Denmark)

    Berry-Kravis, Elizabeth M; Lindemann, Lothar; Jønch, Aia E

    2018-01-01

    Neurodevelopmental disorders such as fragile X syndrome (FXS) result in lifelong cognitive and behavioural deficits and represent a major public health burden. FXS is the most frequent monogenic form of intellectual disability and autism, and the underlying pathophysiology linked to its causal gene...

  2. Pharmacogenetics of the Neurodevelopmental Impact of Anticancer Chemotherapy

    Science.gov (United States)

    Robaey, Philippe; Krajinovic, Maja; Marcoux, Sophie; Moghrabi, Albert

    2008-01-01

    Pharmacogenetics holds the promise of minimizing adverse neurodevelopmental outcomes of cancer patients by identifying patients at risk, enabling the individualization of treatment and the planning of close follow-up and early remediation. This review focuses first on methotrexate, a drug often implicated in neurotoxicity, especially when used in…

  3. NEURODEVELOPMENTAL CARE OF PRETERM BABIES AND ITS KEY ELEMENTS

    Directory of Open Access Journals (Sweden)

    I. M. Sarapuk

    2017-07-01

    Full Text Available Over the past few decades, the advancements in the perinatal and neonatal intensive care have led to a significant survival of premature infants. However neurodevelopmental outcome still remains the topical issues of concern. Developmental care is an approach that is aimed to reduce the mismatches between extra- and intra-uterine environments, decrease the stress of preterm newborns in neonative intensive care units, and thus promote optimal neurobehavioral development of the infant. The Newborn Individualized Developmental Care and Assessment Program (NIDCAP model was developed as a clinical framework for the implementation of developmental care. The model focuses on detailed reading of each individual infant’s behavioral cues. By observing the child during the routine manipulation performance (before, during and after and a detailed description of his/her behavioral responses, a professional can assess the ability of the infant’s immature nervous system to tolerate the environment and care manipulations. Such evaluation will enable to determine the adequacy of environmental conditions and care manipulations to baby’s opportunities and needs, with their subsequent correction and adaptation. NIDCAP’s aim is to support the child in its increasing tolerance to stimuli and to minimize stressful events and manipulation. With the help of NIDCAP approaches in neonatal care, medical staff study how to read infants’ behavior, hear their voice and understand them.

  4. A bitter choice turned sweet: How acknowledging individuals' concern at having a low relative income serves to align utilitarianism and egalitarianism

    OpenAIRE

    Stark, Oded; Jakubek, Marcin; Kobus, Martyna

    2015-01-01

    When individuals' utility is a convex combination of their income and their concern at having a low relative income (the weights attached to income and to the concern at having a low relative income sum up to one), the maximization of aggregate utility yields an equal income distribution. This alignment of utilitarianism and egalitarianism is obtained for any number of individuals, and for general utility functions that are convex combinations of a power function of income and the concern at ...

  5. Neurodevelopmental model of schizophrenia: update 2012

    National Research Council Canada - National Science Library

    Rapoport, J L; Giedd, J N; Gogtay, N

    2012-01-01

    ... greatest potential to modify or extend, the neurodevelopmental model of schizophrenia. Longitudinal whole-population studies support a dimensional, rather than categorical, concept of psychosis...

  6. Which neurodevelopmental disorders get researched and why?

    Science.gov (United States)

    Bishop, Dorothy V M

    2010-11-30

    There are substantial differences in the amount of research concerned with different disorders. This paper considers why. Bibliographic searches were conducted to identify publications (1985-2009) concerned with 35 neurodevelopmental disorders: Developmental dyslexia, Developmental dyscalculia, Developmental coordination disorder, Speech sound disorder, Specific language impairment, Attention deficit hyperactivity disorder, Autistic spectrum disorder, Tourette syndrome, Intellectual disability, Angelman syndrome, Cerebral palsy, Cornelia de Lange syndrome, Cri du chat syndrome, Down syndrome, Duchenne muscular dystrophy, Fetal alcohol syndrome, Fragile X syndrome, Galactosaemia, Klinefelter syndrome, Lesch-Nyhan syndrome, Lowe syndrome, Marfan syndrome, Neurofibromatosis type 1, Noonan syndrome, Phenylketonuria, Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Trisomy 18, Tuberous sclerosis, Turner syndrome, Velocardiofacial syndrome, Williams syndrome, XXX and XYY. A publication index reflecting N publications relative to prevalence was derived. The publication index was higher for rare than common conditions. However, this was partly explained by the tendency for rare disorders to be more severe. Although research activity is predictable from severity and prevalence, there are exceptions. Low rates of research, and relatively low levels of NIH funding, characterise conditions that are the domain of a single discipline with limited research resources. Growth in research is not explained by severity, and was exceptionally steep for autism and ADHD.

  7. Which neurodevelopmental disorders get researched and why?

    Directory of Open Access Journals (Sweden)

    Dorothy V M Bishop

    2010-11-01

    Full Text Available There are substantial differences in the amount of research concerned with different disorders. This paper considers why.Bibliographic searches were conducted to identify publications (1985-2009 concerned with 35 neurodevelopmental disorders: Developmental dyslexia, Developmental dyscalculia, Developmental coordination disorder, Speech sound disorder, Specific language impairment, Attention deficit hyperactivity disorder, Autistic spectrum disorder, Tourette syndrome, Intellectual disability, Angelman syndrome, Cerebral palsy, Cornelia de Lange syndrome, Cri du chat syndrome, Down syndrome, Duchenne muscular dystrophy, Fetal alcohol syndrome, Fragile X syndrome, Galactosaemia, Klinefelter syndrome, Lesch-Nyhan syndrome, Lowe syndrome, Marfan syndrome, Neurofibromatosis type 1, Noonan syndrome, Phenylketonuria, Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Trisomy 18, Tuberous sclerosis, Turner syndrome, Velocardiofacial syndrome, Williams syndrome, XXX and XYY. A publication index reflecting N publications relative to prevalence was derived.The publication index was higher for rare than common conditions. However, this was partly explained by the tendency for rare disorders to be more severe.Although research activity is predictable from severity and prevalence, there are exceptions. Low rates of research, and relatively low levels of NIH funding, characterise conditions that are the domain of a single discipline with limited research resources. Growth in research is not explained by severity, and was exceptionally steep for autism and ADHD.

  8. Assisted reproduction and child neurodevelopmental outcomes

    DEFF Research Database (Denmark)

    Bay, Bjørn; Mortensen, Erik Lykke; Kesmodel, Ulrik Schiøler

    2013-01-01

    To systematically review the existing literature on neurodevelopmental outcomes in children born after medically assisted reproduction compared with those of children born after spontaneous conception.......To systematically review the existing literature on neurodevelopmental outcomes in children born after medically assisted reproduction compared with those of children born after spontaneous conception....

  9. Generalised joint hypermobility and neurodevelopmental traits in a non-clinical adult population.

    Science.gov (United States)

    Glans, Martin; Bejerot, Susanne; Humble, Mats B

    2017-09-01

    Generalised joint hypermobility (GJH) is reportedly overrepresented among clinical cases of attention deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and developmental coordination disorder (DCD). It is unknown if these associations are dimensional and, therefore, also relevant among non-clinical populations. To investigate if GJH correlates with sub-syndromal neurodevelopmental symptoms in a normal population. Hakim-Grahame's 5-part questionnaire (5PQ) on GJH, neuropsychiatric screening scales measuring ADHD and ASD traits, and a DCD-related question concerning clumsiness were distributed to a non-clinical, adult, Swedish population ( n =1039). In total, 887 individuals met our entry criteria. We found no associations between GJH and sub-syndromal symptoms of ADHD, ASD or DCD. Although GJH is overrepresented in clinical cases with neurodevelopmental disorders, such an association seems absent in a normal population. Thus, if GJH serves as a biomarker cutting across diagnostic boundaries, this association is presumably limited to clinical populations. None. © The Royal College of Psychiatrists 2017. This is an open access article distributed under the terms of the Creative Commons Non-Commercial, No Derivatives (CC BY-NC-ND) license.

  10. Emerging pharmacotherapies for neurodevelopmental disorders.

    Science.gov (United States)

    Wetmore, Daniel Z; Garner, Craig C

    2010-09-01

    A growing and interdisciplinary translational neuroscience research effort for neurodevelopmental disorders (NDDs) is investigating the mechanisms of dysfunction and testing effective treatment strategies in animal models and, when possible, in the clinic. NDDs with a genetic basis have received particular attention. Transgenic animals that mimic genetic insults responsible for disease in man have provided insight about mechanisms of dysfunction, and, surprisingly, have shown that cognitive deficits can be addressed in adult animals. This review will present recent translational research based on animal models of genetic NDDs, as well as pharmacotherapeutic strategies under development to address deficits of brain function for Down syndrome, fragile X syndrome, Rett syndrome, neurofibromatosis-1, tuberous sclerosis, and autism. Although these disorders vary in underlying causes and clinical presentation, common pathways and mechanisms for dysfunction have been observed. These include abnormal gene dosage, imbalance among neurotransmitter systems, and deficits in the development, maintenance and plasticity of neuronal circuits. NDDs affect multiple brain systems and behaviors that may be amenable to drug therapies that target distinct deficits. A primary goal of translational research is to replace symptomatic and supportive drug therapies with pharmacotherapies based on a principled understanding of the causes of dysfunction. Based on this principle, several recently developed therapeutic strategies offer clear promise for clinical development in man.

  11. Sleep in Neurodevelopmental and Neurodegenerative Disorders.

    Science.gov (United States)

    Kotagal, Suresh

    2015-06-01

    There is a close relationship between sleep and childhood neurodevelopmental/neurodegenerative disorders. Understanding the sleep issues may provide greater insight into pathophysiology and treatment of these disorders. Copyright © 2015 Elsevier Inc. All rights reserved.

  12. Delayed visual maturation: ophthalmic and neurodevelopmental aspects.

    Science.gov (United States)

    Tresidder, J; Fielder, A R; Nicholson, J

    1990-10-01

    Delayed visual maturation (DVM) can present as an isolated anomaly (type 1A), but can be compounded by perinatal problems (type 1B), severe neurodevelopmental delay (type 2), or ocular anomalies/nystagmus (type 3), in which group the common feature appears to be nystagmus. The neurodevelopmental and ophthalmic aspects of 26 infants with DVM were studied. Onset of visual improvement, rate of acquisition of normal vision and eventual outcome were studied quantitatively, using an adaptation of the acuity card procedure. Neurodevelopmental assessment was performed after visual improvement. The results support the long-held clinical impression that if blindness is the presenting feature, neurodevelopmental outlook is excellent. DVM could represent a defect in the extrageniculostriate visual system, and the onset of vision in all types--and the development of nystagmus in type 3--could herald the emergence of geniculostriate function.

  13. Protocol for the development and validation of a questionnaire to assess concerning behaviours and mental health in individuals with autism spectrum disorders: the Assessment of Concerning Behaviour (ACB) scale.

    Science.gov (United States)

    Santosh, Paramala; Tarver, Joanne; Gibbons, Felicity; Vitoratou, Silia; Simonoff, Emily

    2016-03-22

    Co-occurring psychiatric conditions and concerning behaviours are prevalent in individuals with autism spectrum disorders (ASD), and are likely to be detrimental to functioning and long-term outcomes. The cognitive rigidity and deficits in emotional literacy and verbal behaviour that commonly occur in ASD can adversely affect clinicians' confidence to identify concerning behaviours and mental health problems. There is a need to develop a measure that is tailored towards individuals with ASD, and differentiates between symptoms of psychopathology and core ASD symptoms. Furthermore, it should be modified to capture internalising symptoms that individuals with ASD may find difficult or be unable to verbalise. This protocol describes the intended development and validation of the Assessment of Concerning Behaviour (ACB) scale. The ACB will aim to be a multidimensional measure of concerning behaviours in ASD incorporating self-report, parent/carer, teacher/employer and clinician report versions that can be used across the lifespan and spectrum of intellectual ability. This study will be guided by the methods described in the US Food and Drug Administration Guidance for Industry Patient-reported Outcome Measures. A literature review, cognitive interviews and focus groups with individuals who have experience of working or living with ASDs will be used for item generation. A sample of children and adults with ASD will complete the ACB, in addition to other gold standard measures of concerning behaviour in order to establish the initial psychometric properties of the scale. This study has received ethical approval from the NHS Research Ethics Committee: London-Camden and King's Cross (ref: 15/LO/0085). Study findings will be disseminated to healthcare professionals and scientists in the field through publication in peer-reviewed journals and conference presentations. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a

  14. Social neuroscience, empathy, brain integration, and neurodevelopmental disorders.

    Science.gov (United States)

    Harris, James C

    2003-08-01

    Paul MacLean has investigated integrated brain functioning through selected brain lesions in animals that disturb circuits necessary for complex behaviors, such as social displays. MacLean is unique in his comparative neurobehavioral approach that emphasizes the evolutionary origins of parenting and social behaviors and the implications of brain changes in the evolution from reptiles (social displays) to mammals (nursing, audiovocal communication, play) to man (self-awareness, intentionality, social context) that link affect and cognition. Subjectively, how "looking with feeling toward others," the basic element in empathy, evolved has been a central concern of his. Neuroimaging studies of social cognition, mother-infant communication, moral behavior, forgiveness, and trust are consistent with particular brain systems being activated in cooperative social behaviors. The identification of mirror neurons is pertinent to MacLean's model of isopraxis and studies of thalamocortical resonances may be pertinent to his neurobehavioral models. Studies of behavioral phenotypes in human neurodevelopmental disorders are consistent with MacLean's model of brain circuits being linked to complex behaviors during development. In autistic disorder, the behavioral phenotype involves disrupted social communication, deviant imaginative play, and motor stereotypies. In Lesch-Nyhan syndrome (LNS), self-injury occurs in individuals with normal sensory systems intact who require and request physical restraint to prevent self-injury; they ask for assistance from others to prevent them from harming themselves. Autism involves the lack of subjective awareness of others intentions and LNS involves a failure in self-regulation and self-control of self-injurious behavior. MacLean's models laid the groundwork for studies focused on understanding brain functioning in these conditions.

  15. Depression longitudinally mediates the association of appearance concerns to ART non-adherence in HIV-infected individuals with a history of injection drug use.

    Science.gov (United States)

    Blashill, Aaron J; Gordon, Janna R; Safren, Steven A

    2014-02-01

    Appearance concerns are common among HIV-infected individuals, and previous cross-sectional and longitudinal data indicate that these concerns are associated with antiretroviral therapy (ART) non-adherence. However, to date, no known prospective data have explored the mechanism behind this relationship. Thus, the aim of the current study was to test depression severity as a prospective mediator of the relationship between appearance concerns and ART non-adherence in HIV-infected individuals with a history of injection drug use (IDU). Participants were 89 HIV-infected individuals with a history of IDU who participated in a prospective, randomized controlled trial of cognitive behavioral therapy for depression and medication adherence. Clinician-administered measures of depression severity and appearance concerns, along with electronic monitoring of ART non-adherence were included. Data were analyzed using longitudinal linear mixed-level modeling, and mediation was tested via the Monte Carlo Method of Assessing Mediation. Appearance concerns were predictive of depression severity, γ = .31, SE = .076, 95 % CI [.16, .46], t = 4.1, p = .0001, and depression severity was predictive of ART non-adherence, γ = 3.3, SE = 1.3, 95 % CI [.8, 5.8], t = 2.6, p = .01. The effect of appearance concerns on ART non-adherence, however, was significantly mediated by depression severity, γ = 1.02, 95 % CI [.21, 2.1]. Appearance concerns are associated with depression severity, which in turn is associated with ART non-adherence. Integrative interventions addressing appearance concerns, depression and ART adherence are needed, as this is one potential pathway towards worse health outcomes in HIV-infected individuals.

  16. The neurodevelopmental basis of math anxiety.

    Science.gov (United States)

    Young, Christina B; Wu, Sarah S; Menon, Vinod

    2012-05-01

    Math anxiety is a negative emotional reaction to situations involving mathematical problem solving. Math anxiety has a detrimental impact on an individual's long-term professional success, but its neurodevelopmental origins are unknown. In a functional MRI study on 7- to 9-year-old children, we showed that math anxiety was associated with hyperactivity in right amygdala regions that are important for processing negative emotions. In addition, we found that math anxiety was associated with reduced activity in posterior parietal and dorsolateral prefrontal cortex regions involved in mathematical reasoning. Multivariate classification analysis revealed distinct multivoxel activity patterns, which were independent of overall activation levels in the right amygdala. Furthermore, effective connectivity between the amygdala and ventromedial prefrontal cortex regions that regulate negative emotions was elevated in children with math anxiety. These effects were specific to math anxiety and unrelated to general anxiety, intelligence, working memory, or reading ability. Our study identified the neural correlates of math anxiety for the first time, and our findings have significant implications for its early identification and treatment.

  17. Thyroid hormone for preventing of neurodevelopmental impairment in preterm infants.

    Science.gov (United States)

    Osborn, D A

    2000-01-01

    neurodevelopmental outcomes. There was no significant difference in mortality to discharge (typical relative risk 0.74, 95% CI 0.44, 1.26) in infants who received thyroid hormone treatment compared to controls. In individual studies, no significant differences were found in neurodevelopmental outcomes including risk of abnormal neurological outcome, and Bayley Mental or Psychomotor Development Indices. No data were available for the incidences of cerebral palsy or sensorineural impairment. Fraction of inspired oxygen was lower in infants receiving triiodothyronine in one small quasi-randomized study (Amato 1989), but not in infants receiving thyroxine in a randomized study (Vanhole 1997). No other differences were found to suggest a reduced severity of respiratory distress syndrome in infants receiving early thyroid hormone therapy. This review does not support the use of thyroid hormones in preterm infants to reduce neonatal mortality, improve neurodevelopmental outcome or to reduce the severity of respiratory distress syndrome. The a posteriori subgroup analyses of data from one study (van Wassenaer 1997) which showed benefits in infants 24-25 weeks gestation should be treated with caution. The small number of infants included in trials incorporated in this review limits the power of the meta-analysis to detect clinically important differences in neonatal outcomes. Future trials should be of sufficient size to detect clinically important differences in neurodevelopmental outcomes. They should consider enrolling those infants most likely to benefit from thyroid hormone treatment such as infants born at less than 27 weeks gestation and use thyroid hormones as treatment instead of prophylaxis.

  18. Antisocial Personality as a Neurodevelopmental Disorder.

    Science.gov (United States)

    Raine, Adrian

    2018-01-25

    Although antisocial personality disorder (APD) is one of the most researched personality disorders, it is still surprisingly resistant to treatment. This lack of clinical progress may be partly due to the failure to view APD as a neurodevelopmental disorder and to consider early interventions. After first defining what constitutes a neurodevelopmental disorder, this review evaluates the extent to which APD meets neurodevelopmental criteria, covering structural and functional brain imaging, neurocognition, genetics and epigenetics, neurochemistry, and early health risk factors. Prevention and intervention strategies for APD are then outlined, focusing on addressing early biological and health systems, followed by forensic and clinical implications. It is argued both that APD meets criteria for consideration as a neurodevelopmental disorder and that consideration should be given both to the possibility that early onset conduct disorder is neurodevelopmental in nature, and also to the inclusion of psychopathy as a specifier in future Diagnostic and Statistical Manual revisions of APD. Expected final online publication date for the Annual Review of Clinical Psychology Volume 14 is May 7, 2018. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

  19. Concern and Helplessness: Citizens' Assessments of Individual and Collective Action on the Provision of Environmental Public Goods in a Coastal City at Risk of Inundation

    Science.gov (United States)

    Bunyan, Sabrina; Collins, Alan; Duffy, David

    2016-09-01

    Survey data from a representative sample of 1005 households in the UK coastal city of Portsmouth are examined to discern commonalities and contrasts in their assessment of actions to address the related environmental threats of climate change and flooding. The city of Portsmouth is at risk of inundation from rising sea levels and the city has recent experience of flooding. A simple local and global public good framework is used to organize the understanding of reported attitudes and their determinants. The findings show that it is not always the same individuals who express concern about both climate change and flooding. Investigation into perceptions of helplessness in tackling climate change indicates that individuals more often perceived themselves to be helpless in tackling climate but perceived local collective action to be more effective. Individuals considered local collective action to be more effective in tackling climate change. Perceptions of individual helplessness are in turn related to reported concern. Several socioeconomic characteristics of individuals are shown to be useful in explaining the determinants of concern and perceptions of helplessness among respondents. As other cities face climate change-related challenges, the empirical findings, based upon attitudes from an alert urban population, are informative to policy design.

  20. Integrating care for neurodevelopmental disorders by unpacking control: A grounded theory study

    Directory of Open Access Journals (Sweden)

    Gustaf Waxegård

    2016-09-01

    Full Text Available Background: To establish integrated healthcare pathways for patients with neurodevelopmental disorders (ND such as autism spectrum disorder and attention-deficit hyperactivity disorder is challenging. This study sets out to investigate the main concerns for healthcare professionals when integrating ND care pathways and how they resolve these concerns. Methods: Using classic grounded theory (Glaser, we analysed efforts to improve and integrate an ND care pathway for children and youth in a Swedish region over a period of 6 years. Data from 42 individual interviews with a range of ND professionals, nine group interviews with healthcare teams, participant observation, a 2-day dialogue conference, focus group meetings, regional media coverage, and reports from other Swedish regional ND projects were analysed. Results: The main concern for participants was to deal with overwhelming ND complexity by unpacking control, which is control over strategies to define patients’ status and needs. Unpacking control is key to the professionals’ strivings to expand constructive life space for patients, to squeeze health care to reach available care goals, to promote professional ideologies, and to uphold workplace integrity. Control-seeking behaviour in relation to ND unpacking is ubiquitous and complicates integration of ND care pathways. Conclusions: The Unpacking control theory expands central aspects of professions theory and may help to improve ND care development.

  1. Integrating care for neurodevelopmental disorders by unpacking control: A grounded theory study

    Science.gov (United States)

    Waxegård, Gustaf; Thulesius, Hans

    2016-01-01

    Background To establish integrated healthcare pathways for patients with neurodevelopmental disorders (ND) such as autism spectrum disorder and attention-deficit hyperactivity disorder is challenging. This study sets out to investigate the main concerns for healthcare professionals when integrating ND care pathways and how they resolve these concerns. Methods Using classic grounded theory (Glaser), we analysed efforts to improve and integrate an ND care pathway for children and youth in a Swedish region over a period of 6 years. Data from 42 individual interviews with a range of ND professionals, nine group interviews with healthcare teams, participant observation, a 2-day dialogue conference, focus group meetings, regional media coverage, and reports from other Swedish regional ND projects were analysed. Results The main concern for participants was to deal with overwhelming ND complexity by unpacking control, which is control over strategies to define patients’ status and needs. Unpacking control is key to the professionals’ strivings to expand constructive life space for patients, to squeeze health care to reach available care goals, to promote professional ideologies, and to uphold workplace integrity. Control-seeking behaviour in relation to ND unpacking is ubiquitous and complicates integration of ND care pathways. Conclusions The Unpacking control theory expands central aspects of professions theory and may help to improve ND care development. PMID:27609793

  2. Children's Judgment of the Legitimacy of Group Decision-Making about Individual Concerns: A Comparative Study between England and Japan

    Science.gov (United States)

    Kinoshita, Yoshiko

    2006-01-01

    This study aimed to examine when children come to distinguish between the private affairs of an individual and the group's matter in relation to group decision making and whether there are any differences between Japan and England in learning the distinction. In total 217 children aged 8, 11, and 13 years, and undergraduates participated in the…

  3. GABAergic circuit dysfunctions in neurodevelopmental disorders

    Directory of Open Access Journals (Sweden)

    Bidisha eChattopadhyaya

    2012-05-01

    Full Text Available GABAergic interneurons control neuronal excitability, integration, and plasticity. Further, they regulate the generation of temporal synchrony and oscillatory behavior among networks of pyramidal neurons. Such oscillations within and across neural systems are believed to serve various complex functions, such as perception, movement initiation, and memory. Alterations in the development of GABAergic circuits have been implicated in various brain diseases with neurodevelopmental origin. Here, we highlight recent studies suggesting a role for alterations of GABA transmission in the pathophysiology of two neurodevelopmental diseases, schizophrenia and autism. We further discuss how manipulations of GABA signaling may be used for novel therapeutic interventions.

  4. Management of sleep disorders in neurodevelopmental disorders and genetic syndromes.

    Science.gov (United States)

    Heussler, Helen S

    2016-03-01

    Sleep disorders in individuals with developmental difficulties continue to be a significant challenge for families, carers, and therapists with a major impact on individuals and carers alike. This review is designed to update the reader on recent developments in this area. A systematic search identified a variety of studies illustrating advances in the regulation of circadian rhythm and sleep disturbance in neurodevelopmental disorders. Specific advances are likely to lead in some disorders to targeted therapies. There is strong evidence that behavioural and sleep hygiene measures should be first line therapy; however, studies are still limited in this area. Nonpharmacological measures such as exercise, sensory interventions, and behavioural are reported. Behavioural regulation and sleep hygiene demonstrate the best evidence for improved sleep parameters in individuals with neurodisability. Although the mainstay of management of children with sleep problems and neurodevelopmental disability is similar to that of typically developing children, there is emerging evidence of behavioural strategies being successful in large-scale trials and the promise of more targeted therapies for more specific resistant disorders.

  5. Postnatal dexamethasone, respiratory and neurodevelopmental outcomes at two years in babies born extremely preterm.

    Science.gov (United States)

    Qin, Gordon; Lo, Jessica W; Marlow, Neil; Calvert, Sandy A; Greenough, Anne; Peacock, Janet L

    2017-01-01

    Postnatal dexamethasone is associated with reduction in bronchopulmonary dysplasia. There remains, however, concern that its short-term benefits are accompanied by long-term adverse effects e.g. poorer neurodevelopmental outcomes. Our aim was to determine the effects of administration of postnatal dexamethasone on respiratory and neurodevelopmental outcome at two years of age after adjusting for neonatal and infant risk factors. The study included 412 infants born at 23-28 weeks of gestation, 29% had received postnatal dexamethasone. Two outcomes were examined, respiratory hospital admissions in the past 12 months and neurodevelopmental impairment. Logistic regression, adjusted for sex, birthweight z-score, gestation, maternal smoking, oxygen dependency at 36 weeks, airleak, patent ductus arteriosus, pulmonary haemorrhage, major ultrasound abnormality, mode of ventilation and age at assessment, was undertaken. After adjustment, postnatal dexamethasone was associated with significantly increased proportions of both respiratory hospital readmission: (0.35 vs 0.15, difference = 0.20; 95% CI: 0.08, 0.31) and neurodevelopmental impairment (0.59 vs 0.45, difference = 0.14; 95% CI: 0.02, 0.26). Postnatal dexamethasone use in extremely preterm infants is associated with increased risks of respiratory hospital admissions and neurodevelopmental impairment. These associations were not explained by excess neonatal morbidities.

  6. UK publicly funded Clinical Trials Units supported a controlled access approach to share individual participant data but highlighted concerns.

    Science.gov (United States)

    Hopkins, Carolyn; Sydes, Matthew; Murray, Gordon; Woolfall, Kerry; Clarke, Mike; Williamson, Paula; Tudur Smith, Catrin

    2016-02-01

    Evaluate current data sharing activities of UK publicly funded Clinical Trial Units (CTUs) and identify good practices and barriers. Web-based survey of Directors of 45 UK Clinical Research Collaboration (UKCRC)-registered CTUs. Twenty-three (51%) CTUs responded: Five (22%) of these had an established data sharing policy and eight (35%) specifically requested consent to use patient data beyond the scope of the original trial. Fifteen (65%) CTUs had received requests for data, and seven (30%) had made external requests for data in the previous 12 months. CTUs supported the need for increased data sharing activities although concerns were raised about patient identification, misuse of data, and financial burden. Custodianship of clinical trial data and requirements for a CTU to align its policy to their parent institutes were also raised. No CTUs supported the use of an open access model for data sharing. There is support within the publicly funded UKCRC-registered CTUs for data sharing, but many perceived barriers remain. CTUs are currently using a variety of approaches and procedures for sharing data. This survey has informed further work, including development of guidance for publicly funded CTUs, to promote good practice and facilitate data sharing. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

  7. Neurodevelopmental treatment after stroke : a comparative study

    NARCIS (Netherlands)

    Dr. T.B. Hafsteinsdóttir; A Algra; M.H.F. Grypdonck; L.J. Kappelle

    2005-01-01

    Background: Neurodevelopmental treatment (NDT) is a rehabilitation approach increasingly used in the care of stroke patients, although no evidence has been provided for its efficacy. Objective: To investigate the effects of NDT on the functional status and quality of life (QoL) of patients

  8. Neurodevelopmental consequences of being born SGA

    NARCIS (Netherlands)

    van Wassenaer, Aleid

    2005-01-01

    Fetal growth retardation is associated with postnatal growth retardation and cardio-vascular and metabolic problems later on in life. Less well described are the consequences of neurodevelopmental outcome. The term SGA is associated with mild to moderate school problems, still present in late

  9. Neurodevelopmental Outcomes of Children with Periventricular Leukomalacia

    Directory of Open Access Journals (Sweden)

    Takashi Imamura

    2013-12-01

    Conclusion: Most children with grade 2 or 3 PVL had severe neurodevelopmental delays, but attention should also be paid to the 56% of children with grade 1 PVL who presented with normal psychomotor development. Further studies of larger populations, including long-term follow-up, are necessary to evaluate the outcomes of children with PVL.

  10. School Neuropsychology Consultation in Neurodevelopmental Disorders

    Science.gov (United States)

    Decker, Scott L.

    2008-01-01

    The role of school psychologists with training in neuropsychology is examined within the context of multitiered models of service delivery and educational reform policies. An expanded role is suggested that builds on expertise in the assessment of neurodevelopmental disorders and extends to broader tiers through consultation practice. Changes in…

  11. Drosophila Modeling of Heritable Neurodevelopmental Disorders

    OpenAIRE

    Gatto, Cheryl L.; Broadie, Kendal

    2011-01-01

    Heritable neurodevelopmental disorders are multifaceted disease conditions encompassing a wide range of symptoms including intellectual disability, cognitive dysfunction, autism and myriad other behavioral impairments. In cases where single, causative genetic defects have been identified, such as Angelman syndrome, Rett syndrome, Neurofibromatosis Type 1 and Fragile X syndrome, the classical Drosophila genetic system has provided fruitful disease models. Recent Drosophila studies have advance...

  12. Histone Lysine Methylation and Neurodevelopmental Disorders

    Directory of Open Access Journals (Sweden)

    Jeong-Hoon Kim

    2017-06-01

    Full Text Available Methylation of several lysine residues of histones is a crucial mechanism for relatively long-term regulation of genomic activity. Recent molecular biological studies have demonstrated that the function of histone methylation is more diverse and complex than previously thought. Moreover, studies using newly available genomics techniques, such as exome sequencing, have identified an increasing number of histone lysine methylation-related genes as intellectual disability-associated genes, which highlights the importance of accurate control of histone methylation during neurogenesis. However, given the functional diversity and complexity of histone methylation within the cell, the study of the molecular basis of histone methylation-related neurodevelopmental disorders is currently still in its infancy. Here, we review the latest studies that revealed the pathological implications of alterations in histone methylation status in the context of various neurodevelopmental disorders and propose possible therapeutic application of epigenetic compounds regulating histone methylation status for the treatment of these diseases.

  13. Academic underachievement: A neurodevelopmental perspective

    Directory of Open Access Journals (Sweden)

    K. Shapiro Bruce, MD

    2011-03-01

    Full Text Available Academic underachievement is a common presenting symptom and has many different causes. The disorders that describe academic underachievement are based on the child’s function in cognitive, academic, or behavioral domains. The disorders that are associated with academic underachievement are final common pathways that have different etiologies and mechanisms. Multiple disorders are the rule because brain dysfunction in childhood usually affects multiple functions. Consequently, management programs must be individualized, comprehensive and address issues related to the child, school, and family. Treatment plans include parent training, academic accommodations, techniques to maintain self-esteem, and psychopharmacologic approaches. Ongoing monitoring of the management programs is necessary to detect important comorbidities that may emerge, to modify the program to meet the changing academic and social demands that occur as the child ages, and to provide current information. The outcome for children with academic underachievement is most dependent on the underlying disorder. Health providers have multiple roles to play in the prevention, detection, diagnosis and management of children with academic underachievement.

  14. Helping concerned family members of individuals with substance use and concurrent disorders: An evaluation of a family member-oriented treatment program.

    Science.gov (United States)

    Denomme, William James; Benhanoh, Orry

    2017-08-01

    There is a growing body of research demonstrating that families of individuals with substance use and concurrent disorders (SUCD) experience a wide range of biopsychosocial problems that significantly impedes their quality of life and health. However, there has been a relative lack of treatment programs primarily focused on improving the well-being and quality of life of these family members. The current study assessed the efficacy of such a program at reducing stress, increasing perceived social support from family and friends, and increasing general, dyadic, and self-rated family functioning within these concerned family members. A sample of 125 family members of individuals with SUCDs was recruited, of which 97 participated in the treatment program and 28 were used as the comparison group. Results indicated that the treatment program significantly reduced stress, increased perceived social support from family and friends, and increased general, dyadic and self-rated family functioning. A perceived personal benefits questionnaire demonstrated that participants had a better understanding of SUCDs, better coping capabilities in regard to emotional difficulties, adopted stronger coping methods, participated in more leisure activities, and improved their relationship with the individual with a SUCD. The results of the current study further demonstrate the need to implement more of these family-member oriented psycho-educational treatment programs. Copyright © 2017 Elsevier Inc. All rights reserved.

  15. Practitioner Review: Multilingualism and neurodevelopmental disorders - an overview of recent research and discussion of clinical implications.

    Science.gov (United States)

    Uljarević, Mirko; Katsos, Napoleon; Hudry, Kristelle; Gibson, Jenny L

    2016-11-01

    been observed. There is little evidence to support the widely held view that multilingual exposure is detrimental to the linguistic or social development of individuals with neurodevelopmental disorders. However, we also note that the available pool of studies is small and the number of methodologically high quality studies is relatively low. We discuss implications of multilingualism for clinical management of neurodevelopmental disorders, and discuss possible directions for future research. © 2016 Association for Child and Adolescent Mental Health.

  16. International telemedicine consultations for neurodevelopmental disabilities.

    Science.gov (United States)

    Pearl, Phillip L; Sable, Craig; Evans, Sarah; Knight, Joseph; Cunningham, Parker; Lotrecchiano, Gaetano R; Gropman, Andrea; Stuart, Sheela; Glass, Penny; Conway, Anne; Ramadan, Issam; Paiva, Tania; Batshaw, Mark L; Packer, Roger J

    2014-06-01

    A telemedicine program was developed between the Children's National Medical Center (CNMC) in Washington, DC, and the Sheikh Khalifa Bin Zayed Foundation in the United Arab Emirates (UAE). A needs assessment and a curriculum of on-site training conferences were devised preparatory to an ongoing telemedicine consultation program for children with neurodevelopmental disabilities in the underserved eastern region of the UAE. Weekly telemedicine consultations are provided by a multidisciplinary faculty. Patients are presented in the UAE with their therapists and families. Real-time (video over Internet protocol; average connection, 768 kilobits/s) telemedicine conferences are held weekly following previews of medical records. A full consultation report follows each telemedicine session. Between February 29, 2012 and June 26, 2013, 48 weekly 1-h live interactive telemedicine consultations were conducted on 48 patients (28 males, 20 females; age range, 8 months-22 years; median age, 5.4 years). The primary diagnoses were cerebral palsy, neurogenetic disorders, autism, neuromuscular disorders, congenital anomalies, global developmental delay, systemic disease, and epilepsy. Common comorbidities were cognitive impairment, communication disorders, and behavioral disorders. Specific recommendations included imaging and DNA studies, antiseizure management, spasticity management including botulinum toxin protocols, and specific therapy modalities including taping techniques, customized body vests, and speech/language and behavioral therapy. Improved outcomes reported were in clinician satisfaction, achievement of therapy goals for patients, and requests for ongoing sessions. Weekly telemedicine sessions coupled with triannual training conferences were successfully implemented in a clinical program dedicated to patients with neurodevelopmental disabilities by the Center for Neuroscience at CNMC and the UAE government. International consultations in neurodevelopmental

  17. The Effects of Social Anxiety and Online Privacy Concern on Individual Differences in Internet-Based Interaction Anxiety and Communication Preferences.

    Science.gov (United States)

    Shaughnessy, Krystelle; Rocheleau, Jessica N; Kamalou, Somayyeh; Moscovitch, David A

    2017-04-01

    Social anxiety (SA) and online privacy concerns (OPCs) are conceptually distinct fears, but both may be activated by Internet-based social contexts. Whereas SA is focused on being the object of interpersonal evaluation, OPC is focused on preventing others from gaining unauthorized access to private personal information. No research to date has investigated how SA and OPCs may uniquely or interactively predict individual differences in online interaction anxiety or attitudes and preferences about online communication. Participants (N = 374) completed the Social Phobia Inventory and measures of OPCs, online interaction anxiety, and attitudes related to online communication. The results revealed that SA and OPCs were not correlated with one another; however, they each uniquely predicted significant variance in particular outcomes, with no interactive effects. Findings help to illuminate the ways in which online communication preferences may be differentially shaped by people's levels of SA and OPCs, respectively. Theoretical implications and applications are discussed.

  18. Neurodevelopmental outcomes in children with congenital hypothyroidism

    OpenAIRE

    Almeida, Carolina Lopes de

    2016-01-01

    Trabalho de revisão do 6º ano médico com vista à atribuição do grau de mestre (área científica de pediatria) no âmbito do ciclo de estudos de Mestrado Integrado em Medicina. Although prognosis of Congenital Hypothyroidism (CH) has been greatly modified since the introduction of newborn screening programs, persistent cognitive deficits are still reported. The aim of this study was to evaluate neurodevelopmental outcomes of children with CH and to determine whether severity of CH, age of...

  19. Drosophila modeling of heritable neurodevelopmental disorders.

    Science.gov (United States)

    Gatto, Cheryl L; Broadie, Kendal

    2011-12-01

    Heritable neurodevelopmental disorders are multifaceted disease conditions encompassing a wide range of symptoms including intellectual disability, cognitive dysfunction, autism and myriad other behavioral impairments. In cases where single, causative genetic defects have been identified, such as Angelman syndrome, Rett syndrome, Neurofibromatosis Type 1 and Fragile X syndrome, the classical Drosophila genetic system has provided fruitful disease models. Recent Drosophila studies have advanced our understanding of UBE3A, MECP2, NF1 and FMR1 function, respectively, in genetic, biochemical, anatomical, physiological and behavioral contexts. Investigations in Drosophila continue to provide the essential mechanistic understanding required to facilitate the conception of rational therapeutic treatments. Copyright © 2011 Elsevier Ltd. All rights reserved.

  20. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

    DEFF Research Database (Denmark)

    Mignot, Cyril; von Stülpnagel, Celina; Nava, Caroline

    2016-01-01

    OBJECTIVE: We aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1 mutations and to investigate genotype-phenotype correlations. METHODS: We sequenced the exome or screened the exons of SYNGAP1 in a total of 251 patients with neurodevelopmental disorders. Molecular and clini......OBJECTIVE: We aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1 mutations and to investigate genotype-phenotype correlations. METHODS: We sequenced the exome or screened the exons of SYNGAP1 in a total of 251 patients with neurodevelopmental disorders. Molecular...... and clinical data from patients with SYNGAP1 mutations from other centres were also collected, focusing on developmental aspects and the associated epilepsy phenotype. A review of SYNGAP1 mutations published in the literature was also performed. RESULTS: We describe 17 unrelated affected individuals carrying...... 13 different novel loss-of-function SYNGAP1 mutations. Developmental delay was the first manifestation of SYNGAP1-related encephalopathy; intellectual disability became progressively obvious and was associated with autistic behaviours in eight patients. Hypotonia and unstable gait were frequent...

  1. Early neurodevelopmental screening in tuberous sclerosis complex: a potential window of opportunity.

    Science.gov (United States)

    Gipson, Tanjala T; Gerner, Gwendolyn; Srivastava, Siddharth; Poretti, Andrea; Vaurio, Rebecca; Hartman, Adam; Johnston, Michael V

    2014-09-01

    Infants born with tuberous sclerosis complex, a genetic condition resulting from a mutation in TSC1 or TSC2, are at increased risk for intellectual disability and/or autism. Features of epilepsy, neuropathology, genetics, as well as timing and type of mechanism-based medications have been proposed as risk factors. Neurodevelopmental outcomes have been reported among these studies; however, few include data about the individuals' early neurodevelopmental profile, a factor that may contribute significantly to these outcomes. Further, there is no clinical standard for the neurodevelopmental assessment of these infants. The paucity of data regarding the natural history of neurodevelopment in infants with tuberous sclerosis complex and the lack of a gold standard for neurodevelopmental evaluation present a significant challenge for clinicians and researchers. During the first year of life, we tracked the onset of infantile spasms, the type and timing of antiepileptic treatments, and the associated response of two age-matched infants with tuberous sclerosis complex. We also employed Capute Scales as a part of a structured neurodevelopmental evaluation to characterize and compare their neurodevelopmental profiles. Infant 1 developed infantile spasms with confirmed hypsarrhythmia at 4 months of age. Treatment with vigabatrin was initiated within 24 hours with near immediate cessation of seizures and no further seizures to date. Expressive language delay was detected at 12 months and treated with speech and/or language therapy. Infant 2 developed complex partial seizures at 1 month. Treatment included levetiracetam, oxcarbazepine, and the ketogenic diet. Vigabatrin was initiated on detection of hypsarrhythmia after 4 months. Intractable epilepsy persists to date. Global developmental delay was evident by 8 months and treated with physical, occupational, and speech and/or language therapy. Many risk factors have been associated with intellectual disability and/or autism in

  2. Prenatal exposure to organophosphorus pesticides and childhood neurodevelopmental phenotypes.

    Science.gov (United States)

    Furlong, Melissa A; Herring, Amy; Buckley, Jessie P; Goldman, Barbara D; Daniels, Julie L; Engel, Lawrence S; Wolff, Mary S; Chen, Jia; Wetmur, Jim; Barr, Dana Boyd; Engel, Stephanie M

    2017-10-01

    Prenatal exposure to organophosphorus pesticides (OPs) has been associated with different neurodevelopmental outcomes across different cohorts. A phenotypic approach may address some of these differences by incorporating information across scales and accounting for the complex correlational structure of neurodevelopmental outcomes. Additionally, Bayesian hierarchical modeling can account for confounding by collinear co-exposures. We use this framework to examine associations between prenatal exposure to OPs and behavior, executive functioning, and IQ assessed at age 6-9 years in a cohort of 404 mother/infant pairs recruited during pregnancy. We derived phenotypes of neurodevelopment with a factor analysis, and estimated associations between OP metabolites and these phenotypes in Bayesian hierarchical models for exposure mixtures. We report seven factors: 1) Impulsivity and Externalizing, 2) Executive Functioning, 3) Internalizing, 4) Perceptual Reasoning, 5) Adaptability, 6) Processing Speed, and 7) Verbal Intelligence. These, along with the Working Memory Index, were standardized and scaled so that positive values reflected positive attributes and negative values represented adverse outcomes. Standardized dimethylphosphate metabolites were negatively associated with Internalizing factor scores (β^ - 0.13, 95% CI - 0.26, 0.00) but positively associated with Executive Functioning factor scores (β^ 0.18, 95% CI 0.04, 0.31). Standardized diethylphosphate metabolites were negatively associated with the Working Memory Index (β^ - 0.17, 95% CI - 0.33, - 0.03). Associations with factor scores were generally stronger and more precise than associations with individual instrument-specific items. Factor analysis of outcomes may provide some advantages in etiological studies of childhood neurodevelopment by incorporating information across scales to reduce dimensionality and improve precision. Copyright © 2017 Elsevier Inc. All rights reserved.

  3. Yield of additional metabolic studies in neurodevelopmental disorders

    NARCIS (Netherlands)

    Engbers, Hannelie M; Berger, Ruud; van Hasselt, Peter; de Koning, Tom; de Sain-van der Velden, Monique G M; Kroes, Hester Y; Visser, Gepke

    The timing and yield of metabolic studies for patients with neurodevelopmental disorders is a matter of continuing debate. We determined the yield of additional or repeated metabolic studies in patients with neurodevelopmental disorders. Patients referred to a tertiary diagnostic center for patients

  4. [Neurodevelopmental theories of schizophrenia--preclinical studies].

    Science.gov (United States)

    Lehner, Małgorzata; Taracha, Ewa; Wisłowska, Aleksandra; Zienowicz, Małgorzata; Maciejak, Piotr; Skórzewska, Anna; Płaźnik, Adam

    2003-01-01

    Schizophrenia is a complex disorder of unknown origin, characterised by abnormalities in the realms of perception, thinking and the experience of emotions that onset is restricted to young adulthood. Many techniques that range from neuropathology to neuroimaging identified subtle brain abnormalities particularly in frontal, temporal cortex, hippocampus, basal ganglia and cerebellum. Neurodevelopmental models of schizophrenia test hypotheses that this disease is caused by a defect in cerebral development which results in altered neural connectivity, brain neurochemistry and aberrant behaviour observed in adult life. Recent evidence indicates that neonatal hippocampal damage may affect prefrontal neuronal integrity. The developmental lesion model appears to have predictive validity because treatment with antipsychotic drugs normalises some abnormal behaviour changes. Therefore it will be a useful paradigm in the work on new therapies and in providing new insights about pathophysiology and etiology of schizophrenia.

  5. Sleep in children with neurodevelopmental disabilities.

    Science.gov (United States)

    Angriman, Marco; Caravale, Barbara; Novelli, Luana; Ferri, Raffaele; Bruni, Oliviero

    2015-06-01

    This review describes recent research in pediatric sleep disorders associated with neurodevelopmental disabilities (NDDs) and their treatment. NDDs affect more than 2% of the general population and represent more than 35% of the total cases of children referred to a neuropsychiatric center for sleep problems. Specific clinical and therapeutic aspects of sleep disorders associated with Down syndrome, Fragile X syndrome, Prader-Willi syndrome, Angelman syndrome, Rett syndrome, Smith-Magenis syndrome, cerebral palsy, and autism spectrum disorders are described. Furthermore, the drugs commonly used for sleep disorders in children with NDDs are described. The review clearly highlighted that children with NDDs are often affected by sleep disorders that require appropriate clinical and therapeutic approach to improve quality of life in both patients and families. Georg Thieme Verlag KG Stuttgart · New York.

  6. Neurodevelopmental processes and psychological functioning in autism.

    Science.gov (United States)

    Gillberg, C

    1999-01-01

    Autism is a developmental disorder with variable severity, occurring at all levels of cognitive ability and having a number of slightly different clinical presentations. It is associated with neuropsychological deficits that occur in other conditions also, but its pattern may be specific to autism. Genetic and environmental early insults to brain development are etiological determinants of the disorder. Brain circuitries important for social, communicative, and integrational purposes have been suggested to be dysfunctional in autism. There could be at least two different pathways to autism, one connected with primary temporofrontal dysfunction (and late prenatal-early postnatal origins) and another linked to primary brain-stem dysfunction (and early prenatal origins). Further study of neurodevelopmental and neuropsychological processes in autism will help elucidate not only the pathological mechanisms involved in the specific syndromes but also the underpinnings of normal brain development.

  7. Complex Neurodevelopmental Disorders And Their Genetic Etiologies

    Directory of Open Access Journals (Sweden)

    Amna Batool

    2015-08-01

    Full Text Available Complex Neurodevelopmental disorders NDDs exhibit complex etiological and genetic features and the mutations have a fundamental role in this complexity including common polymorphisms and rare variations in a single gene or cluster of genes. The analysis of complex NDDs have shown that the genetics has the major role in causation of such complex diseases. Interestingly both mutations and polymorphisms are involved occurring in a single gene or clusters of genes. Likewise a single gene variation may also be involved in multiple neurological disorders making the diagnosis of neurological diseases more difficult. Many candidate genes and chromosomal regions have been identified that are widely involved in neurological symptoms which necessitates the genotypic approach for describing the phenotype.

  8. Neurobiology of depression: A neurodevelopmental approach.

    Science.gov (United States)

    Lima-Ojeda, Juan M; Rupprecht, Rainer; Baghai, Thomas C

    2017-03-03

    The main aims of this paper are to review and evaluate the neurobiology of the depressive syndrome from a neurodevelopmental perspective. An English language literature search was performed using PubMed. Depression is a complex syndrome that involves anatomical and functional changes that have an early origin in brain development. In subjects with genetic risk for depression, early stress factors are able to mediate not only the genetic risk but also gene expression. There is evidence that endocrine and immune interactions have an important impact on monoamine function and that the altered monoamine signalling observed in the depressive syndrome has a neuro-endocrino-immunological origin early in the development. Neurodevelopment is a key aspect to understand the whole neurobiology of depression.

  9. Neurodevelopmental delay in children exposed in utero to hyperemesis gravidarum.

    Science.gov (United States)

    Fejzo, Marlena S; Magtira, Aromalyn; Schoenberg, Frederic Paik; Macgibbon, Kimber; Mullin, Patrick M

    2015-06-01

    The purpose of this study is to determine the frequency of emotional, behavioral, and learning disorders in children exposed in utero to hyperemesis gravidarum (HG) and to identify prognostic factors for these disorders. Neurodevelopmental outcomes of 312 children from 203 mothers with HG were compared to neurodevelopmental outcomes from 169 children from 89 unaffected mothers. Then the clinical profiles of patients with HG and a normal child outcome were compared to the clinical profiles of patients with HG and a child with neurodevelopmental delay to identify prognostic factors. Binary responses were analyzed using either a Chi-square or Fisher Exact test and continuous responses were analyzed using a t-test. Children exposed in utero to HG have a 3.28-fold increase in odds of a neurodevelopmental diagnosis including attention disorders, learning delay, sensory disorders, and speech and language delay (Ppregnancies, only early onset of symptoms (prior to 5 weeks gestation) was significantly linked to neurodevelopmental delay. We found no evidence for increased risk of 13 emotional, behavioral, and learning disorders, including autism, intellectual impairment, and obsessive-compulsive disorder. However, the study was not sufficiently powered to detect rare conditions. Medications, treatments, and preterm birth were not associated with an increased risk for neurodevelopmental delay. Women with HG are at a significantly increased risk of having a child with neurodevelopmental delay. Common antiemetic treatments were not linked to neurodevelopmental delay, but early symptoms may play a role. There is an urgent need to address whether aggressive treatment that includes vitamin and nutrient supplementation in women with early symptoms of severe nausea of pregnancy decreases the risk of neurodevelopmental delay. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  10. The Effects of Live Music as the Discriminative Stimulus and Reinforcer on the Skill Acquisition of Learners with Neurodevelopmental Disorders

    Science.gov (United States)

    Harms, Melanie D.

    2013-01-01

    Individuals with neurodevelopmental disorders are challenged with memory and language deficits that impact their skills acquisition (Martin, Klusek, Estigarriba, & Roberts, 2009; Turner & Alborz, 2003). The value of music when applied as an antecedent and a reinforcer has long been established to address such memory and language deficits…

  11. Cross Talk: The Microbiota and Neurodevelopmental Disorders

    Directory of Open Access Journals (Sweden)

    John R. Kelly

    2017-09-01

    Full Text Available Humans evolved within a microbial ecosystem resulting in an interlinked physiology. The gut microbiota can signal to the brain via the immune system, the vagus nerve or other host-microbe interactions facilitated by gut hormones, regulation of tryptophan metabolism and microbial metabolites such as short chain fatty acids (SCFA, to influence brain development, function and behavior. Emerging evidence suggests that the gut microbiota may play a role in shaping cognitive networks encompassing emotional and social domains in neurodevelopmental disorders. Drawing upon pre-clinical and clinical evidence, we review the potential role of the gut microbiota in the origins and development of social and emotional domains related to Autism spectrum disorders (ASD and schizophrenia. Small preliminary clinical studies have demonstrated gut microbiota alterations in both ASD and schizophrenia compared to healthy controls. However, we await the further development of mechanistic insights, together with large scale longitudinal clinical trials, that encompass a systems level dimensional approach, to investigate whether promising pre-clinical and initial clinical findings lead to clinical relevance.

  12. Cross Talk: The Microbiota and Neurodevelopmental Disorders

    Science.gov (United States)

    Kelly, John R.; Minuto, Chiara; Cryan, John F.; Clarke, Gerard; Dinan, Timothy G.

    2017-01-01

    Humans evolved within a microbial ecosystem resulting in an interlinked physiology. The gut microbiota can signal to the brain via the immune system, the vagus nerve or other host-microbe interactions facilitated by gut hormones, regulation of tryptophan metabolism and microbial metabolites such as short chain fatty acids (SCFA), to influence brain development, function and behavior. Emerging evidence suggests that the gut microbiota may play a role in shaping cognitive networks encompassing emotional and social domains in neurodevelopmental disorders. Drawing upon pre-clinical and clinical evidence, we review the potential role of the gut microbiota in the origins and development of social and emotional domains related to Autism spectrum disorders (ASD) and schizophrenia. Small preliminary clinical studies have demonstrated gut microbiota alterations in both ASD and schizophrenia compared to healthy controls. However, we await the further development of mechanistic insights, together with large scale longitudinal clinical trials, that encompass a systems level dimensional approach, to investigate whether promising pre-clinical and initial clinical findings lead to clinical relevance. PMID:28966571

  13. Models of Neurodevelopmental Abnormalities in Schizophrenia

    Science.gov (United States)

    Powell, Susan B.

    2013-01-01

    The neurodevelopmental hypothesis of schizophrenia asserts that the underlying pathology of schizophrenia has its roots in brain development and that these brain abnormalities do not manifest themselves until adolescence or early adulthood. Animal models based on developmental manipulations have provided insight into the vulnerability of the developing fetus and the importance of the early environment for normal maturation. These models have provided a wide range of validated approaches to answer questions regarding environmental influences on both neural and behavioral development. In an effort to better understand the developmental hypothesis of schizophrenia, animal models have been developed, which seek to model the etiology and/or the pathophysiology of schizophrenia or specific behaviors associated with the disease. Developmental models specific to schizophrenia have focused on epidemiological risk factors (e.g., prenatal viral insult, birth complications) or more heuristic models aimed at understanding the developmental neuropathology of the disease (e.g., ventral hippocampal lesions). The combined approach of behavioral and neuroanatomical evaluation of these models strengthens their utility in improving our understanding of the pathophysiology of schizophrenia and developing new treatment strategies. PMID:21312409

  14. The adverse neuro-developmental effects of postnatal steroids in the preterm infant: a systematic review of RCTs

    Directory of Open Access Journals (Sweden)

    Barrington Keith J

    2001-02-01

    Full Text Available Abstract Background Recent reports have raised concerns that postnatal steroids may cause neuro-developmental impairment in preterm infants. This systematic review was performed with the objective of determining whether glucocorticoid therapy, to prevent or treat bronchopulmonary dysplasia, impairs neuro-developmental outcomes in preterm infants. Method A systematic review of the literature was performed. Medline was searched and articles retrieved using predefined criteria. Data from randomized controlled trials with adequate neuro-developmental follow up (to at least one year were entered into a meta-analysis to determine the effects of postnatal treatment of preterm infants with glucocorticoids. Cerebral palsy rates, and neuro-developmental impairment (developmental score more than 2SD below the mean, or cerebral palsy or blindness were analyzed. The studies were divided into 2 groups according to the extent of contamination of the results by treatment of controls with steroids after the initial study period, those with less than 30% contamination, and those with more than 30% contamination or size of contamination not reported. Results Postnatal steroid therapy is associated with an increase in cerebral palsy and neuro-developmental impairment. The studies with less contamination show a greater effect of the steroids, consistent with a real direct toxic effect of steroids on the developing central nervous system. The typical relative risk for the development of cerebral palsy derived from studies with less than 30% contamination is 2.86 (95% CI 1.95, 4.19. The typical relative risk for the development of neuro-developmental disability among followed up infants from studies with less than 30% contamination is 1.66 (95% CI 1.26, 2.19. From this subgroup of studies, the number of premature infants who need to be treated to have one more infant with cerebral palsy (number needed to harm, NNH is 7; to have one more infant with neuro-developmental

  15. Genetic and Environmental Control of Neurodevelopmental Robustness in Drosophila.

    Directory of Open Access Journals (Sweden)

    David J Mellert

    Full Text Available Interindividual differences in neuronal wiring may contribute to behavioral individuality and affect susceptibility to neurological disorders. To investigate the causes and potential consequences of wiring variation in Drosophila melanogaster, we focused on a hemilineage of ventral nerve cord interneurons that exhibits morphological variability. We find that late-born subclasses of the 12A hemilineage are highly sensitive to genetic and environmental variation. Neurons in the second thoracic segment are particularly variable with regard to two developmental decisions, whereas its segmental homologs are more robust. This variability "hotspot" depends on Ultrabithorax expression in the 12A neurons, indicating variability is cell-intrinsic and under genetic control. 12A development is more variable and sensitive to temperature in long-established laboratory strains than in strains recently derived from the wild. Strains with a high frequency of one of the 12A variants also showed a high frequency of animals with delayed spontaneous flight initiation, whereas other wing-related behaviors did not show such a correlation and were thus not overtly affected by 12A variation. These results show that neurodevelopmental robustness is variable and under genetic control in Drosophila and suggest that the fly may serve as a model for identifying conserved gene pathways that stabilize wiring in stressful developmental environments. Moreover, some neuronal lineages are variation hotspots and thus may be more amenable to evolutionary change.

  16. Differential susceptibility to the environment: an evolutionary--neurodevelopmental theory.

    Science.gov (United States)

    Ellis, Bruce J; Boyce, W Thomas; Belsky, Jay; Bakermans-Kranenburg, Marian J; van Ijzendoorn, Marinus H

    2011-02-01

    Two extant evolutionary models, biological sensitivity to context theory (BSCT) and differential susceptibility theory (DST), converge on the hypothesis that some individuals are more susceptible than others to both negative (risk-promoting) and positive (development-enhancing) environmental conditions. These models contrast with the currently dominant perspective on personal vulnerability and environmental risk: diathesis stress/dual risk. We review challenges to this perspective based on emerging theory and data from the evolutionary, developmental, and health sciences. These challenges signify the need for a paradigm shift in conceptualizing Person x Environment interactions in development. In this context we advance an evolutionary--neurodevelopmental theory, based on DST and BSCT, of the role of neurobiological susceptibility to the environment in regulating environmental effects on adaptation, development, and health. We then outline current thinking about neurogenomic and endophenotypic mechanisms that may underpin neurobiological susceptibility, summarize extant empirical research on differential susceptibility, and evaluate the evolutionary bases and implications of BSCT and DST. Finally, we discuss applied issues including methodological and statistical considerations in conducting differential susceptibility research; issues of ecological, cultural, and racial--ethnic variation in neurobiological susceptibility; and implications of differential susceptibility for designing social programs. We conclude that the differential susceptibility paradigm has far-reaching implications for understanding whether and how much child and adult development responds, for better and for worse, to the gamut of species-typical environmental conditions.

  17. Order of the 30 December 2004 relative to the individual sheet of medical follow-up and to the individual information concerning the dosimetry of workers exposed to ionizing radiations; Arrete du 30 decembre 2004 relatif a la carte individuelle de suivi medical et aux informations individuelles de dosimetrie des travailleurs exposes aux rayonnements ionisants

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    2004-12-15

    This order concerns the content and the modalities of grant of the individual sheet of medical follow-up, the collect and the centralization of dosimetry individual information by the Institute of Radiation Protection and Safety (IRSN), and the access to individual results of external and internal dosimetry. (A.L.B.)

  18. Neurodevelopmental problems and extremes in BMI

    Directory of Open Access Journals (Sweden)

    Nóra Kerekes

    2015-07-01

    Full Text Available Background. Over the last few decades, an increasing number of studies have suggested a connection between neurodevelopmental problems (NDPs and body mass index (BMI. Attention deficit/hyperactivity disorder (ADHD and autism spectrum disorders (ASD both seem to carry an increased risk for developing extreme BMI. However, the results are inconsistent, and there have been only a few studies of the general population of children.Aims. We had three aims with the present study: (1 to define the prevalence of extreme (low or high BMI in the group of children with ADHD and/or ASDs compared to the group of children without these NDPs; (2 to analyze whether extreme BMI is associated with the subdomains within the diagnostic categories of ADHD or ASD; and (3 to investigate the contribution of genetic and environmental factors to BMI in boys and girls at ages 9 and 12.Method. Parents of 9- or 12-year-old twins (n = 12,496 were interviewed using the Autism—Tics, ADHD and other Comorbidities (A-TAC inventory as part of the Child and Adolescent Twin Study in Sweden (CATSS. Univariate and multivariate generalized estimated equation models were used to analyze associations between extremes in BMI and NDPs.Results. ADHD screen-positive cases followed BMI distributions similar to those of children without ADHD or ASD. Significant association was found between ADHD and BMI only among 12-year-old girls, where the inattention subdomain of ADHD was significantly associated with the high extreme BMI. ASD scores were associated with both the low and the high extremes of BMI. Compared to children without ADHD or ASD, the prevalence of ASD screen-positive cases was three times greater in the high extreme BMI group and double as much in the low extreme BMI group. Stereotyped and repetitive behaviors were significantly associated with high extreme BMIs.Conclusion. Children with ASD, with or without coexisting ADHD, are more prone to have low or high extreme BMIs than

  19. Neurodevelopmental Disorders and Environmental Toxicants: Epigenetics as an Underlying Mechanism

    Directory of Open Access Journals (Sweden)

    Nguyen Quoc Vuong Tran

    2017-01-01

    Full Text Available The increasing prevalence of neurodevelopmental disorders, especially autism spectrum disorders (ASD and attention deficit hyperactivity disorder (ADHD, calls for more research into the identification of etiologic and risk factors. The Developmental Origin of Health and Disease (DOHaD hypothesizes that the environment during fetal and childhood development affects the risk for many chronic diseases in later stages of life, including neurodevelopmental disorders. Epigenetics, a term describing mechanisms that cause changes in the chromosome state without affecting DNA sequences, is suggested to be the underlying mechanism, according to the DOHaD hypothesis. Moreover, many neurodevelopmental disorders are also related to epigenetic abnormalities. Experimental and epidemiological studies suggest that exposure to prenatal environmental toxicants is associated with neurodevelopmental disorders. In addition, there is also evidence that environmental toxicants can result in epigenetic alterations, notably DNA methylation. In this review, we first focus on the relationship between neurodevelopmental disorders and environmental toxicants, in particular maternal smoking, plastic-derived chemicals (bisphenol A and phthalates, persistent organic pollutants, and heavy metals. We then review studies showing the epigenetic effects of those environmental factors in humans that may affect normal neurodevelopment.

  20. Going Concern eller Concerned Going

    DEFF Research Database (Denmark)

    Haraszuk, Anni; Hartmann, Stig

    2012-01-01

    Højsæsonen for revision af årsrapporter 2011 er på trapperne; men hvordan håndterer revisorer egentlig going concern i praksis - i en tid præget af stejle op- og nedture?......Højsæsonen for revision af årsrapporter 2011 er på trapperne; men hvordan håndterer revisorer egentlig going concern i praksis - i en tid præget af stejle op- og nedture?...

  1. Increased nuchal translucency thickness and risk of neurodevelopmental disorders

    DEFF Research Database (Denmark)

    Hellmuth, S G; Pedersen, L H; Miltoft, C B

    2017-01-01

    OBJECTIVE: To investigate the association between fetal nuchal translucency (NT) thickness and neurodevelopmental disorders in euploid children. METHODS: This study included 222 505 euploid children who had undergone routine first-trimester screening during fetal life. Children were divided...... spectrum disorders (ASD), cerebral palsy, epilepsy and febrile seizures was obtained from national patient registries. RESULTS: There was no excess risk of neurodevelopmental disorders among euploid children with first-trimester NT 95(th) -99(th) percentile. For children with NT > 99(th) percentile...... in the risk of cerebral palsy (OR, 1.91 (95% CI, 0.61-5.95), 0.47%), epilepsy (OR, 1.51 (95% CI, 0.63-3.66), 0.78%) or febrile seizures (OR, 0.72 (95% CI, 0.44-1.16), 2.65%). CONCLUSIONS: In a large unselected cohort of euploid children, there was no increased risk of neurodevelopmental disorders among those...

  2. Neurodevelopmental disorders in children with neurofibromatosis type 1.

    Science.gov (United States)

    Vogel, Alecia C; Gutmann, David H; Morris, Stephanie M

    2017-11-01

    Over the past several decades, neurofibromatosis type 1 (NF1) has become increasingly recognized as a neurodevelopmental disorder conferring increased risk for several important neurodevelopmental problems. In this review, we summarize the specific neurodevelopmental problems encountered in the context of NF1. These include impairments in general cognitive function, deficits in specific cognitive domains such as executive function and visuospatial processing and risk for specific learning disorders, impairments in attention and social skills and the overlap with attention-deficit-hyperactivity disorder and autism spectrum disorder, and the risk of developing other psychiatric conditions including anxiety and depression. Early recognition of these developmental impairments is important for the effective treatment of children with NF1, and further characterization is essential to improve our understanding of how mutations in the NF1 gene create the diversity of clinical neuropsychiatric symptomatology observed in this at-risk population. © 2017 Mac Keith Press.

  3. Essays on Information Assurance: Examination of Detrimental Consequences of Information Security, Privacy, and Extreme Event Concerns on Individual and Organizational Use of Systems

    Science.gov (United States)

    Park, Insu

    2010-01-01

    The purpose of this study is to explore systems users' behavior on IS under the various circumstances (e.g., email usage and malware threats, online communication at the individual level, and IS usage in organizations). Specifically, the first essay develops a method for analyzing and predicting the impact category of malicious code, particularly…

  4. Neurodevelopmental origins of bipolar disorder: iPSC models.

    Science.gov (United States)

    O'Shea, K Sue; McInnis, Melvin G

    2016-06-01

    Bipolar disorder (BP) is a chronic neuropsychiatric condition characterized by pathological fluctuations in mood from mania to depression. Adoption, twin and family studies have consistently identified a significant hereditary component to BP, yet there is no clear genetic event or consistent neuropathology. BP has been suggested to have a developmental origin, although this hypothesis has been difficult to test since there are no viable neurons or glial cells to analyze, and research has relied largely on postmortem brain, behavioral and imaging studies, or has examined proxy tissues including saliva, olfactory epithelium and blood cells. Neurodevelopmental factors, particularly pathways related to nervous system development, cell migration, extracellular matrix, H3K4 methylation, and calcium signaling have been identified in large gene expression and GWAS studies as altered in BP. Recent advances in stem cell biology, particularly the ability to reprogram adult somatic tissues to a pluripotent state, now make it possible to interrogate these pathways in viable cell models. A number of induced pluripotent stem cell (iPSC) lines from BP patient and healthy control (C) individuals have been derived in several laboratories, and their ability to form cortical neurons examined. Early studies suggest differences in activity, calcium signaling, blocks to neuronal differentiation, and changes in neuronal, and possibly glial, lineage specification. Initial observations suggest that differentiation of BP patient-derived neurons to dorsal telencephalic derivatives may be impaired, possibly due to alterations in WNT, Hedgehog or Nodal pathway signaling. These investigations strongly support a developmental contribution to BP and identify novel pathways, mechanisms and opportunities for improved treatments. Copyright © 2015 Elsevier Inc. All rights reserved.

  5. Neurodevelopmental origins of lifespan changes in brain and cognition.

    Science.gov (United States)

    Walhovd, Kristine B; Krogsrud, Stine K; Amlien, Inge K; Bartsch, Hauke; Bjørnerud, Atle; Due-Tønnessen, Paulina; Grydeland, Håkon; Hagler, Donald J; Håberg, Asta K; Kremen, William S; Ferschmann, Lia; Nyberg, Lars; Panizzon, Matthew S; Rohani, Darius A; Skranes, Jon; Storsve, Andreas B; Sølsnes, Anne Elisabeth; Tamnes, Christian K; Thompson, Wesley K; Reuter, Chase; Dale, Anders M; Fjell, Anders M

    2016-08-16

    Neurodevelopmental origins of functional variation in older age are increasingly being acknowledged, but identification of how early factors impact human brain and cognition throughout life has remained challenging. Much focus has been on age-specific mechanisms affecting neural foundations of cognition and their change. In contrast to this approach, we tested whether cerebral correlates of general cognitive ability (GCA) in development could be extended to the rest of the lifespan, and whether early factors traceable to prenatal stages, such as birth weight and parental education, may exert continuous influences. We measured the area of the cerebral cortex in a longitudinal sample of 974 individuals aged 4-88 y (1,633 observations). An extensive cortical region was identified wherein area related positively to GCA in development. By tracking area of the cortical region identified in the child sample throughout the lifespan, we showed that the cortical change trajectories of higher and lower GCA groups were parallel through life, suggesting continued influences of early life factors. Birth weight and parental education obtained from the Norwegian Mother-Child Cohort study were identified as such early factors of possible life-long influence. Support for a genetic component was obtained in a separate twin sample (Vietnam Era Twin Study of Aging), but birth weight in the child sample had an effect on cortical area also when controlling for possible genetic differences in terms of parental height. Our results provide novel evidence for stability in brain-cognition relationships throughout life, and indicate that early life factors impact brain and cognition for the entire life course.

  6. Pediatric neuroenhancement: ethical, legal, social, and neurodevelopmental implications.

    Science.gov (United States)

    Graf, William D; Nagel, Saskia K; Epstein, Leon G; Miller, Geoffrey; Nass, Ruth; Larriviere, Dan

    2013-03-26

    The use of prescription medication to augment cognitive or affective function in healthy persons-or neuroenhancement-is increasing in adult and pediatric populations. In children and adolescents, neuroenhancement appears to be increasing in parallel to the rising rates of attention-deficit disorder diagnoses and stimulant medication prescriptions, and the opportunities for medication diversion. Pediatric neuroenhancement remains a particularly unsettled and value-laden practice, often without appropriate goals or justification. Pediatric neuroenhancement presents its own ethical, social, legal, and developmental issues, including the fiduciary responsibility of physicians caring for children, the special integrity of the doctor-child-parent relationship, the vulnerability of children to various forms of coercion, distributive justice in school settings, and the moral obligation of physicians to prevent misuse of medication. Neurodevelopmental issues include the importance of evolving personal authenticity during childhood and adolescence, the emergence of individual decision-making capacities, and the process of developing autonomy. This Ethics, Law, and Humanities Committee position paper, endorsed by the American Academy of Neurology, Child Neurology Society, and American Neurological Association, focuses on various implications of pediatric neuroenhancement and outlines discussion points in responding to neuroenhancement requests from parents or adolescents. Based on currently available data and the balance of ethics issues reviewed in this position paper, neuroenhancement in legally and developmentally nonautonomous children and adolescents without a diagnosis of a neurologic disorder is not justifiable. In nearly autonomous adolescents, the fiduciary obligation of the physician may be weaker, but the prescription of neuroenhancements is inadvisable because of numerous social, developmental, and professional integrity issues.

  7. Individualizing Services, Individualizing Responsibility

    DEFF Research Database (Denmark)

    Garsten, Christina; Hollertz, Katarina; Jacobsson, Kerstin

    possibilities for individual voice, autonomy and self-determination in the local delivery of activation policy? What barriers do specific organisational models and practices imply for clients to choose, determine and access tailor-made programmes and services? What policy technologies are at work in governing......-oriented, and the normative demands placed on individuals appear increasingly totalizing, concerning the whole individual rather than the job-related aspects only. The paper is based on 23 in-depth interviews with individual clients as well as individual caseworkers and other professionals engaged in client-related work...

  8. Intellectual Profiles in the Autism Spectrum and Other Neurodevelopmental Disorders

    Science.gov (United States)

    Mouga, Susana; Café, Cátia; Almeida, Joana; Marques, Carla; Duque, Frederico; Oliveira, Guiomar

    2016-01-01

    The influence of specific autism spectrum disorder (ASD) deficits in Intelligence Quotients (IQ), Indexes and subtests from the Wechsler Intelligence Scale for Children-III was investigated in 445 school-aged children: ASD (N = 224) and other neurodevelopmental disorders (N = 221), matched by Full-Scale IQ and chronological age. ASD have lower…

  9. Long-term neurodevelopmental outcome after fetal arrhythmia

    NARCIS (Netherlands)

    Lopriore, Enrico; Aziz, Muhammed I.; Nagel, Helene T.; Blom, Nico A.; Rozendaal, Lieke; Kanhai, Humphrey H. H.; Vandenbussche, Frank P. H. A.

    2009-01-01

    OBJECTIVE: The purpose of this study was to determine the long-term neurodevelopmental outcome in fetuses with severe tachy- or bradyarrhythmia. STUDY DESIGN: This was a follow-up study to assess the neurologic, mental, and psychomotor development in cases with fetal cardiac arrhythmia. RESULTS: A

  10. Neurodevelopmental Problems in Maltreated Children Referred with Indiscriminate Friendliness

    Science.gov (United States)

    Kocovska, Eva; Puckering, Christine; Follan, Michael; Smillie, Maureen; Gorski, Charlotta; Barnes, James; Wilson, Philip; Young, David; Lidstone, Emma; Pritchett, Rachel; Hockaday, Harriet; Minnis, Helen

    2012-01-01

    We aimed to explore the extent of neurodevelopmental difficulties in severely maltreated adopted children. We recruited 34 adopted children, referred with symptoms of indiscriminate friendliness and a history of severe maltreatment in their early childhood and 32 typically developing comparison children without such a history, living in biological…

  11. Update on the Role of Environmental Toxins in Neurodevelopmental Disabilities

    Science.gov (United States)

    Kouris, Steven

    2007-01-01

    Toxic exposures during pregnancy and early childhood continue to play an important role as a preventable cause of neurodevelopmental disabilities in the U.S. and around the world. Identifying and eliminating these toxins should be a priority, but the task is made exceedingly difficult due to the severe limits of scientific knowledge in this area…

  12. Neurodevelopmental Treatment (NDT): Therapeutic Intervention and Its Efficacy.

    Science.gov (United States)

    Stern, Francine Martin; Gorga, Delia

    1988-01-01

    Use of neurodevelopmental treatment, also known as the Bobath method, is discussed, including its history, philosophy, goals, and treatment emphasis with infants and children with movement disorders. Examples of children before and after therapeutic intervention illustrate use of the technique, and controversies in measuring therapy efficacy are…

  13. Food allergy and food-based therapies in neurodevelopmental disorders

    NARCIS (Netherlands)

    De Theije, Caroline G M; Bavelaar, Bas M.; Lopes da Silva, Sofia; Korte, Sijmen Mechiel; Olivier, Berend; Garssen, Johan; Kraneveld, Aletta D.

    2014-01-01

    Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are neurodevelopmental disorders which occur in childhood and may persist into adulthood. Although the etiology of these disorders is largely unknown, genetic and environmental factors are thought to play a role in

  14. Neurodevelopmental Effects of Early Deprivation in Postinstitutionalized Children

    Science.gov (United States)

    Pollak, Seth D.; Nelson, Charles A.; Schlaak, Mary F.; Roeber, Barbara J.; Wewerka, Sandi S.; Wiik, Kristen L.; Frenn, Kristin A.; Loman, Michelle M.; Gunnar, Megan R.

    2010-01-01

    The neurodevelopmental sequelae of early deprivation were examined by testing (N = 132) 8- and 9-year-old children who had endured prolonged versus brief institutionalized rearing or rearing in the natal family. Behavioral tasks included measures that permit inferences about underlying neural circuitry. Children raised in institutionalized…

  15. Conceptualising compensation in neurodevelopmental disorders: Reflections from autism spectrum disorder.

    Science.gov (United States)

    Livingston, Lucy Anne; Happé, Francesca

    2017-06-19

    Within research into neurodevelopmental disorders, little is known about the mechanisms underpinning changes in symptom severity across development. When the behavioural presentation of a condition improves/symptoms lessen, this may be because core underlying atypicalities in cognition/neural function have ameliorated. An alternative possibility is 'compensation'; that the behavioural presentation appears improved, despite persisting deficits at cognitive and/or neurobiological levels. There is, however, currently no agreed technical definition of compensation or its behavioural, cognitive and neural characteristics. Furthermore, its workings in neurodevelopmental disorders have not been studied directly. Here, we review current evidence for compensation in neurodevelopmental disorders, using Autism Spectrum Disorder as an example, in order to move towards a better conceptualisation of the construct. We propose a transdiagnostic framework, where compensation represents the processes responsible for an observed mismatch between behaviour and underlying cognition in a neurodevelopmental disorder, at any point in development. Further, we explore potential cognitive and neural mechanisms driving compensation and discuss the broader relevance of the concept within research and clinical settings. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.

  16. Adaptive Profiles in Autism and Other Neurodevelopmental Disorders

    Science.gov (United States)

    Mouga, Susana; Almeida, Joana; Café, Cátia; Duque, Frederico; Oliveira, Guiomar

    2015-01-01

    We investigated the influence of specific autism spectrum disorder (ASD) deficits in learning adaptive behaviour, besides intelligence quotient (IQ). Participated 217 school-aged: ASD (N = 115), and other neurodevelopmental disorders (OND) groups (N = 102) matched by Full-Scale IQ. We compared standard scores of Vineland Adaptive Behaviour Scale…

  17. Neurodevelopmental status of HIV-exposed but uninfected children ...

    African Journals Online (AJOL)

    Neurodevelopmental status of HIV-exposed but uninfected children: A pilot study. P Springer, B Laughton, M Tomlinson, J Harvey, M Esser. Abstract. Introduction. HIV affects children both directly and indirectly, with evidence of increased infectious mortality and morbidity in the HIV-exposed but uninfected (HEU) infant.

  18. Extreme hyperbilirubinaemia in Zimbabwean neonates: neurodevelopmental outcome at 4 months

    NARCIS (Netherlands)

    Wolf, M. J.; Beunen, G.; Casaer, P.; Wolf, B.

    1997-01-01

    As part of a prospective study of severely jaundiced Zimbabwean infants, the relationship between maximum total serum bilirubin (TSB) concentration in the neonatal period and neurodevelopmental outcome at the corrected age of 4 months was studied. Fifty infants with a TSB of > 400 micromol/l (23.4

  19. Neurodevelopmental outcome after cardiac surgery utilizing cardiopulmonary bypass in children

    Directory of Open Access Journals (Sweden)

    Aymen N Naguib

    2015-01-01

    Full Text Available Introduction: Modulating the stress response and perioperative factors can have a paramount impact on the neurodevelopmental outcome of infants who undergo cardiac surgery utilizing cardiopulmonary bypass. Materials and Methods: In this single center prospective follow-up study, we evaluated the impact of three different anesthetic techniques on the neurodevelopmental outcomes of 19 children who previously underwent congenital cardiac surgery within their 1 st year of life. Cases were done from May 2011 to December 2013. Children were assessed using the Stanford-Binet Intelligence Scales (5 th edition. Multiple regression analysis was used to test different parental and perioperative factors that could significantly predict the different neurodevelopmental outcomes in the entire cohort of patients. Results: When comparing the three groups regarding the major cognitive scores, a high-dose fentanyl (HDF patients scored significantly higher than the low-dose fentanyl (LDF + dexmedetomidine (DEX (LDF + DEX group in the quantitative reasoning scores (106 ± 22 vs. 82 ± 15 P = 0.046. The bispectral index (BIS value at the end of surgery for the -LDF group was significantly higher than that in LDF + DEX group (P = 0.011. For the entire cohort, a strong correlation was seen between the standard verbal intelligence quotient (IQ score and the baseline adrenocorticotropic hormone level, the interleukin-6 level at the end of surgery and the BIS value at the end of the procedure with an R 2 value of 0.67 and P < 0.04. There was an inverse correlation between the cardiac Intensive Care Unit length of stay and the full-scale IQ score (R = 0.4675 and P 0.027. Conclusions: Patients in the HDF group demonstrated overall higher neurodevelopmental scores, although it did not reach statistical significance except in fluid reasoning scores. Our results may point to a possible correlation between blunting the stress response and improvement of the neurodevelopmental

  20. Positional Concerns and Institutions

    DEFF Research Database (Denmark)

    Landes, Xavier

    2013-01-01

    their implications for economics, positional concerns imply important normative dimensions. There have been presumed to be a symptom of envy, reduce people’s happiness, and create problems of social interaction or economic inefficiencies. Individuals are, for instance, prone to pick states of the world that improve...... that invoking envy or subjective well-being is not fully satisfying for regulating positional concerns. More compelling reasons seem, in complement with efficiency, to be related to considerations for equality. In other words, if institutions could have strong reasons to pay attention to and regulate positional...... concerns, it would be in virtue of their impact on the social product and individuals’ conditions of living....

  1. Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type: Update and perspectives.

    Science.gov (United States)

    Ghibellini, Giulia; Brancati, Francesco; Castori, Marco

    2015-03-01

    In the last decade, increasing attention has been devoted to the extra-articular and extra-cutaneous manifestations of joint hypermobility syndrome, also termed Ehlers-Danlos syndrome, hypermobility type (i.e., JHS/EDS-HT). Despite the fact that the current diagnostic criteria for both disorders remain focused on joint hypermobility, musculoskeletal pain and skin changes, medical practice and research have started investigating a wide spectrum of visceral, neurological and developmental complications, which represent major burdens for affected individuals. In particular, children with generalized joint hypermobility often present with various neurodevelopmental issues and can be referred for neurological consultation. It is common that investigations in these patients yield negative or inconsistent results, eventually leading to the exclusion of any structural neurological or muscle disorder. In the context of specialized clinics for connective tissue disorders, a clear relationship between generalized joint hypermobility and a characteristic neurodevelopmental profile affecting coordination is emerging. The clinical features of these patients tend to overlap with those of developmental coordination disorder and can be associated with learning and other disabilities. Physical and psychological consequences of these additional difficulties add to the chief manifestations of the pre-existing connective tissue disorder, affecting the well-being and development of children and their families. In this review, particular attention is devoted to the nature of the link between joint hypermobility, coordination difficulties and neurodevelopmental issues in children. Presumed pathogenesis and management issues are explored in order to attract more attention on this association and nurture future clinical research. © 2015 Wiley Periodicals, Inc.

  2. Structural cerebral abnormalities and neurodevelopmental status in single ventricle congenital heart disease before Fontan procedure.

    Science.gov (United States)

    Knirsch, Walter; Mayer, Kristina Nadine; Scheer, Ianina; Tuura, Ruth; Schranz, Dietmar; Hahn, Andreas; Wetterling, Kristina; Beck, Ingrid; Latal, Beatrice; Reich, Bettina

    2017-04-01

    Neonates with single ventricle congenital heart disease are at risk for structural cerebral abnormalities. Little is known about the further evolution of cerebral abnormalities until Fontan procedure. Between August 2012 and July 2015, we conducted a prospective cross-sectional two centre study using cerebral magnetic resonance imaging (MRI) and neuro-developmental outcome assessed by the Bayley-III. Forty-seven children (31 male) were evaluated at a mean age of 25.9 ± 3.4 months with hypoplastic left heart syndrome (25) or other single ventricle (22). Cerebral MRI was abnormal in 17 patients (36.2%) including liquor space enlargements (10), small grey (9) and minimal white (5) matter injuries. Eight of 17 individuals had combined lesions. Median (range) cognitive composite score (CCS) (100, 65-120) and motor composite score (MCS) (97, 55-124) were comparable to the reference data, while language composite score (LCS) (97, 68-124) was significantly lower ( P  = 0.040). Liquor space enlargement was associated with poorer performance on all Bayley-III subscores (CCS: P  = 0.02; LCS: P  = 0.002; MCS: P  = 0.013). The number of re-operations [odds ratio (OR) 2.2, 95% confidence interval (CI) 1.1-4.3] ( P  = 0.03) and re-interventions (OR 2.1, 95% CI 1.1-3.8) ( P  = 0.03) was associated with a higher rate of overall MRI abnormalities. Cerebral MRI abnormalities occur in more than one third of children with single ventricle, while the neuro-developmental status is less severely affected before Fontan procedure. Liquor space enlargement is the predominant MRI finding associated with poorer neuro-developmental status, warranting further studies to determine aetiology and further evolution until school-age.

  3. Is there a relationship between the rise in thyroid and neurodevelopmental health effects in North America and the rise in concentrations of PBDEs in the environment? An update

    Energy Technology Data Exchange (ETDEWEB)

    Muir, T. [Environment Canada, Burlington, ON (Canada)

    2004-09-15

    In a previous paper on this question, data on an apparently rising prevalence of hypothyroidism, and neurodevelopmental deficits in children was presented. In this context, the issue of the potential for the observed, exponentially increasing levels of PBDEs in the environment to contribute to this expressed clinical burden of disease was raised. This potential contribution was raised because of evidence that the toxicological endpoints of concern for PBDEs include thyroid hormone disruption and neurodevelopmental deficits, and are similar to those seen earlier for PCBs, and DDT. As well, structural and toxicological similarities to PBBs, PCDDs, PCDFs are also part of the concern. Also raised as issues for further research were two things. First, there is a need in risk assessment to move beyond the focus on the average or median body burden, tissue or human milk concentrations, to account for the population distribution of the concentrations, and the percentiles in the tails of the distribution, particularly the high exposure portion. Second, interactions and additive exposures to and effects of the above mentioned, and other compounds or substances, (e.g. perchlorate, mercury, lead) need to be considered when talking about the ''safety'' of individual compounds. The aim of this paper is to examine - using Monte Carlo methods applied to the reported human milk (lipid weight) concentrations - the probability distributions, and the population percentiles, of the times required for PBDEs to reach a critical value of 1250 ng/g found by the Jacobsons, for PCBs, to be associated with learning impairments, intellectual deficits, and IQ loss in the offspring. In addition, historical body burdens of PCBs and DDT will be taken from the literature, and using estimates derived here of the distribution of the 2002 human milk levels of these compounds, the times required for PBDEs, plus PCBs and DDT, to reach 1250 ng/g will be simulated. Finally, note will

  4. Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

    Science.gov (United States)

    Reuter, Miriam S; Tawamie, Hasan; Buchert, Rebecca; Hosny Gebril, Ola; Froukh, Tawfiq; Thiel, Christian; Uebe, Steffen; Ekici, Arif B; Krumbiegel, Mandy; Zweier, Christiane; Hoyer, Juliane; Eberlein, Karolin; Bauer, Judith; Scheller, Ute; Strom, Tim M; Hoffjan, Sabine; Abdelraouf, Ehab R; Meguid, Nagwa A; Abboud, Ahmad; Al Khateeb, Mohammed Ayman; Fakher, Mahmoud; Hamdan, Saber; Ismael, Amina; Muhammad, Safia; Abdallah, Ebtessam; Sticht, Heinrich; Wieczorek, Dagmar; Reis, André; Abou Jamra, Rami

    2017-03-01

    individuals with severe ID (35 of 77 [45.5%]), in multiplex families (42 of 107 [39.3%]), in patients with additional features (30 of 70 [42.9%]), and in those with remotely related parents (15 of 34 [44.1%]). Because of the high diagnostic yield of 36.8% and the possibility of identifying treatable diseases or the coexistence of several disease-causing variants, using exome sequencing as a first-line diagnostic approach in consanguineous families with neurodevelopmental disorders is recommended. Furthermore, the literature is enriched with 52 convincing candidate genes that are awaiting confirmation in independent families.

  5. A population-based longitudinal study of childhood neurodevelopmental disorders, IQ and subsequent risk of psychotic experiences in adolescence.

    Science.gov (United States)

    Khandaker, G M; Stochl, J; Zammit, S; Lewis, G; Jones, P B

    2014-11-01

    Schizophrenia has a neurodevelopmental component to its origin, and may share overlapping pathogenic mechanisms with childhood neurodevelopmental disorders (NDs). Nevertheless, longitudinal studies of psychotic outcomes among individuals with NDs are limited. We report a population-based prospective study of six common childhood NDs, subsequent neurocognitive performance and the risk of psychotic experiences (PEs) in early adolescence. PEs were assessed by semi-structured interviews at age 13 years. IQ and working memory were measured between ages 9 and 11 years. The presence of six NDs (autism spectrum, dyslexia, dyspraxia, dysgraphia, dysorthographia, dyscalculia) was determined from parent-completed questionnaires at age 9 years. Linear regression calculated the mean difference in cognitive scores between children with and without NDs. Associations between NDs and PEs were expressed as odds ratios (ORs) with 95% confidence intervals (CIs); effects of cognitive deficits were examined. Potential confounders included age, gender, father's social class, ethnicity and maternal education. Out of 8220 children, 487 (5.9%) were reported to have NDs at age 9 years. Children with, compared with those without, NDs performed worse on all cognitive measures; the adjusted mean difference in total IQ was 6.84 (95% CI 5.00-8.69). The association between total IQ and NDs was linear (p memory) deficit partly explained this association. Higher risk of PEs in early adolescence among individuals with childhood ND is consistent with the neurodevelopmental hypothesis of schizophrenia.

  6. Family adjustment and interventions in neurodevelopmental disorders.

    Science.gov (United States)

    Dykens, Elisabeth M

    2015-03-01

    Developmental disabilities are increasingly recognized, and remarkable progress is being made on the genetic and neurobiological underpinnings of many disorders. Yet, only a tiny percentage of the disability literature addresses families of children with disabilities. A review of recently published family studies reveals salient trends and gaps. Consistent with previous work, high levels of parent stress, illness, anxiety, and depression are apparent. Studies in the USA focused on parents of children with autism; in contrast, studies on parents of children with intellectual disabilities were almost always conduced abroad. Compared to other disabilities, families of children with psychiatric disorders and genetic syndromes are understudied. The majority of family studies are descriptive, with very few trials or interventions aimed at reducing parental stress. Of these, mindfulness practices and a peer-mentor model of treatment delivery hold much promise for effective stress reduction. Psychoeducational programs and respite care are differentially beneficial. A new era of family intervention research is in order. This work can take advantage of many advances in telemedicine, peer-mentor models, smart technology, and biomarkers as indices of change. Benefit could also stem from group interventions with parents who share similar concerns, regardless of their child's diagnostic label.

  7. A Population-based Longitudinal Study of Childhood Neurodevelopmental Disorders, IQ and Subsequent Risk of Psychotic Experiences in Adolescence

    Science.gov (United States)

    Khandaker, Golam M.; Stochl, Jan; Zammit, Stanley; Lewis, Glyn; Jones, Peter B

    2014-01-01

    Background Schizophrenia has a neurodevelopmental component to its origin, and may share overlapping pathogenic mechanisms with childhood neurodevelopmental disorders (ND). Yet longitudinal studies of psychotic outcomes among individuals with ND are limited. We report a population-based prospective study of six common childhood ND, subsequent neurocognitive performance and the risk of psychotic experiences (PEs) in early adolescence. Methods PEs were assessed by semi-structured interviews at age 13 years. IQ and working memory were measured between ages 9 and 11 years. The presence of six neurodevelopmental disorders (autism spectrum, dyslexia, dyspraxia, dysgraphia, dysorthographia, dyscalculia) was determined from parent-completed questionnaire at age 9 years. Linear regression calculated mean difference in cognitive scores between those with and without ND. The association between ND and PEs was expressed as odds ratio (OR); effects of cognitive deficits were examined. Potential confounders included age, gender, father’s social class, ethnicity and maternal education. Results Out of 8,220 children, 487 (5.9%) were reported to have ND at age 9 years. Children with, compared with those without ND performed worse on all cognitive measures; adjusted mean difference in total IQ 6.84 (95% CI 5.00- 8.69). The association between total IQ and ND was linear (p<0.0001). The risk of PEs was higher in those with, compared with those without ND; adjusted OR for definite PEs 1.76 (95% CI 1.11- 2.79). IQ (but not working memory) deficit partly explained this association. Conclusion Higher risk of PEs in early adolescence among individuals with childhood ND is consistent with the neurodevelopmental hypothesis of schizophrenia. PMID:25066026

  8. Food allergy and food-based therapies in neurodevelopmental disorders.

    Science.gov (United States)

    de Theije, Caroline G M; Bavelaar, Bas M; Lopes da Silva, Sofia; Korte, Sijmen Mechiel; Olivier, Berend; Garssen, Johan; Kraneveld, Aletta D

    2014-05-01

    Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are neurodevelopmental disorders which occur in childhood and may persist into adulthood. Although the etiology of these disorders is largely unknown, genetic and environmental factors are thought to play a role in the development of ASD and ADHD. Allergic immune reactions, in prenatal and postnatal phases, are examples of these environmental factors, and adverse reactions to foods are reported in these children. In this review, we address the clinical and preclinical findings of (food) allergy in ASD and ADHD and suggest possible underlying mechanisms. Furthermore, opportunities for nutritional interventions in neurodevelopmental disorders are provided. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  9. A compensatory role for declarative memory in neurodevelopmental disorders.

    Science.gov (United States)

    Ullman, Michael T; Pullman, Mariel Y

    2015-04-01

    Most research on neurodevelopmental disorders has focused on their abnormalities. However, what remains intact may also be important. Increasing evidence suggests that declarative memory, a critical learning and memory system in the brain, remains largely functional in a number of neurodevelopmental disorders. Because declarative memory remains functional in these disorders, and because it can learn and retain numerous types of information, functions, and tasks, this system should be able to play compensatory roles for multiple types of impairments across the disorders. Here, we examine this hypothesis for specific language impairment, dyslexia, autism spectrum disorder, Tourette syndrome, and obsessive-compulsive disorder. We lay out specific predictions for the hypothesis and review existing behavioral, electrophysiological, and neuroimaging evidence. Overall, the evidence suggests that declarative memory indeed plays compensatory roles for a range of impairments across all five disorders. Finally, we discuss diagnostic, therapeutic and other implications. Copyright © 2015 Elsevier Ltd. All rights reserved.

  10. Molecular Basis of Neurodegeneration and Neurodevelopmental Defects in Menkes Disease

    Science.gov (United States)

    Zlatic, Stephanie; Comstra, Heather Skye; Gokhale, Avanti; Petris, Michael J.; Faundez, Victor

    2015-01-01

    ATP7A mutations impair copper metabolism resulting in three distinct genetic disorders in humans. These diseases are characterized by neurological phenotypes ranging from intellectual disability to neurodegeneration. Severe ATP7A loss-of function alleles trigger Menkes disease, a copper deficiency condition where systemic and neurodegenerative phenotypes dominate clinical outcomes. The pathogenesis of these manifestations has been attributed to hypoactivity of a limited number of copper-dependent enzymes, a hypothesis that we refer as the oligoenzymatic pathogenic hypothesis. This hypothesis, which has dominated the field for 25 years, only explains some systemic Menkes phenotypes. However, we argue that this hypothesis does not fully account for the Menkes neurodegeneration or neurodevelopmental phenotypes. Here, we propose revisions of the oligoenzymatic hypothesis that could illuminate the pathogenesis of Menkes neurodegeneration and neurodevelopmental defects through unsuspected overlap with other neurological conditions including Parkinson’s, intellectual disability, and schizophrenia. PMID:25583185

  11. Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment.

    Science.gov (United States)

    Reuter, Miriam S; Krumbiegel, Mandy; Schlüter, Gregor; Ekici, Arif B; Reis, André; Zweier, Christiane

    2017-08-01

    Non-recurrent deletions in 2q24.1, minimally overlapping two genes, NR4A2 and GPD2, were recently described in individuals with language impairment and behavioral and cognitive symptoms. We herewith report on a female patient with a similar phenotype of severe language and mild cognitive impairment, in whom we identified a de novo deletion covering only NR4A2. NR4A2 encodes a transcription factor highly expressed in brain regions critical for speech and language and implicated in dopaminergic neuronal development. Our findings of a de novo deletion of NR4A2 in an individual with mild intellectual disability and prominent speech and language impairment provides further evidence for NR4A2 haploinsufficiency being causative for neurodevelopmental and particularly language phenotypes. © 2017 Wiley Periodicals, Inc.

  12. Minor physical anomalies in schizophrenia and bipolar I disorder and the neurodevelopmental continuum of psychosis.

    Science.gov (United States)

    Akabaliev, Valentin Hristov; Sivkov, Stefan Todorov; Mantarkov, Mladen Yordanov

    2014-09-01

    Minor physical anomalies (MPAs) have been investigated by numerous studies in patients with schizophrenia in support of the neurodevelopmental hypothesis of the disorder, but have rarely been examined in patients with bipolar disorder or in direct comparisons between the two conditions. The main objective of the present study was to compare the prevalence of MPAs in psychiatrically healthy controls, patients with bipolar I disorder, and patients with schizophrenia. A slightly modified version of the Waldrop Physical Anomaly Scale was used to assess MPAs in psychiatrically healthy controls (n = 103), patients with bipolar I disorder (n = 61), and patients with schizophrenia (n = 128). In five out of six topographic regions (mouth, feet, head, eyes, and ears) there was a pattern of lowest regional MPA scores in controls, intermediate in bipolar I disorder, and highest in schizophrenia. The cephalofacial composite score and the total MPA score showed the same pattern, with all between-group differences being statistically significant. Seven individual MPAs in the discriminant analysis model contributed independently to the prediction of the triple-dependent status of 'psychiatrically healthy control, bipolar I disorder patient, schizophrenia patient': high/arched palate, fine electric hair, large gap between first and second toes, third toe ≥ second toe, epicanthus, malformed ears, and furrowed tongue. Our findings support the existence of a continuum of neurodevelopmental adversity within the clinical spectrum of psychosis, with bipolar I disorder occupying an intermediate position between psychiatric health and schizophrenia. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  13. Novel roles for immune molecules in neural development: Implications for neurodevelopmental disoders

    Directory of Open Access Journals (Sweden)

    Paula A Garay

    2010-09-01

    Full Text Available Although the brain has classically been considered "immune-privileged," current research suggests extensive communication between the nervous and the immune systems in both health and disease. Recent studies demonstrate that immune molecules are present at the right place and time to modulate the development and function of the healthy and diseased CNS. Indeed, immune molecules play integral roles in the CNS throughout neural development, including affecting neurogenesis, neuronal migration, axon guidance, synapse formation, activity-dependent refinement of circuits, and synaptic plasticity. Moreover, the roles of individual immune molecules in the nervous system may change over development. This review focuses on the effects of immune molecules on neuronal connections in the mammalian central nervous system—specifically the roles for MHCI and its receptors, complement, and cytokines on the function, refinement, and plasticity of cortical and hippocampal synapses and their relationship to neurodevelopmental disorders. These functions for immune molecules during neural development suggest that they could also mediate pathological responses to chronic elevations of cytokines in neurodevelopmental disorders, including autism spectrum disorders (ASD and schizophrenia.

  14. Neurodevelopmental marker for limbic maldevelopment in antisocial personality disorder and psychopathy.

    Science.gov (United States)

    Raine, Adrian; Lee, Lydia; Yang, Yaling; Colletti, Patrick

    2010-09-01

    Antisocial personality disorder and psychopathy have been hypothesised to have a neurodevelopmental basis, but this proposition has not been formally tested. This study tests the hypothesis that individuals with cavum septum pellucidum (CSP), a marker of limbic neural maldevelopment, will show higher levels of psychopathy and antisocial personality. Cavum septum pellucidum was assessed using anatomical magnetic resonance imaging in a community sample. Those with CSP (n = 19) were compared with those lacking CSP (n = 68) on antisocial personality, psychopathy and criminal offending. Those with CSP had significantly higher levels of antisocial personality, psychopathy, arrests and convictions compared with controls. The pervasiveness of this association was indicated by the fact that those lacking a diagnosis of antisocial personality disorder, but who were charged or convicted for an offence, had a more extensive CSP than non-antisocial controls. Results could not be attributed to prior trauma exposure, head injury, demographic factors or comorbid psychiatric conditions. Our findings appear to be the first to provide evidence for a neurodevelopmental brain abnormality in those with antisocial personality disorder and psychopathy, and support the hypothesis that early maldevelopment of limbic and septal structures predisposes to the spectrum of antisocial behaviours.

  15. Neurodevelopmental problems in maltreated children referred with indiscriminate friendliness

    OpenAIRE

    Kocovska, E.; Puckering, C; Follan, M.; Smillie, M.; Gorski, C.; Lidstone, E; Pritchett, R.; Hockaday, H.; Minnis, H.

    2012-01-01

    We aimed to explore the extent of neurodevelopmental difficulties in severely maltreated adopted children. We recruited 34 adopted children, referred with symptoms of indiscriminate friendliness and a history of severe maltreatment in their early childhood and 32 typically developing comparison children without such a history, living in biological families. All 66 children, aged 5–12 years, underwent a detailed neuropsychiatric assessment. The overwhelming majority of the adopted/indiscrimina...

  16. Epigenetic Mechanisms and Therapeutic Perspectives for Neurodevelopmental Disorders

    OpenAIRE

    Kubota, Takeo; Takae, Hirasawa; Miyake, Kunio

    2012-01-01

    The number of children with mild neurodevelopmental disorders, such as autism, has been recently increasing in advanced countries. This increase is probably caused by environmental factors rather than genetic factors, because it is unlikely that genetic mutation rates suddenly increased within a short period. Epigenetics is a mechanism that regulates gene expression, depending not on the underlying DNA sequence but on the chemical modifications of DNA and histone proteins. Because mental stre...

  17. Assisted reproduction and child neurodevelopmental outcomes: a systematic review.

    Science.gov (United States)

    Bay, Bjørn; Mortensen, Erik Lykke; Kesmodel, Ulrik Schiøler

    2013-09-01

    To systematically review the existing literature on neurodevelopmental outcomes in children born after medically assisted reproduction compared with those of children born after spontaneous conception. Systematic review. Not applicable. Children born after medically assisted reproduction vs. reference groups of spontaneously conceived children. Data were reviewed from worldwide published articles, without restrictions as to publication year or language. A total of 80 studies included between 31 and 2,446,044 children. Child neurodevelopmental outcomes categorized as cognitive, behavioral, emotional or psychomotor development, or diagnoses of mental disorders. For infants, studies on psychomotor development showed no deficits, but few investigated cognitive or behavioral development. Studies on toddlers generally reported normal cognitive, behavioral, socio-emotional, and psychomotor development. For children in middle childhood, development seems comparable in children born after assisted reproduction and controls, although fewer studies have been conducted with follow-up to this age. Very few studies have assessed neurodevelopmental outcomes among teens, and the results are inconclusive. Studies investigating the risk of diagnoses of mental disorders are generally large, with long follow-up, but the results are inconsistent. It may tentatively be concluded that the neurodevelopment of children born after fertility treatment is overall comparable to that in children born after spontaneous conception. Copyright © 2013 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  18. Subjective Experience of Episodic Memory and Metacognition: A Neurodevelopmental Approach

    Directory of Open Access Journals (Sweden)

    Celine eSouchay

    2013-12-01

    Full Text Available Episodic retrieval is characterized by the subjective experience of remembering. This experience enables the co-ordination of memory retrieval processes and can be acted on metacognitively. In successful retrieval, the feeling of remembering may be accompanied by recall of important contextual information. On the other hand, when people fail (or struggle to retrieve information, other feelings, thoughts and information may come to mind. In this review, we examine the subjective and metacognitive basis of episodic memory function from a neurodevelopmental perspective, looking at recollection paradigms (such as source memory, and the report of recollective experience and metacognitive paradigms such as the feeling of knowing. We start by considering healthy development, and provide a brief review of the development of episodic memory, with a particular focus on the ability of children to report first-person experiences of remembering. We then consider neurodevelopmental disorders such as amnesia acquired in infancy, autism, Williams syndrome, Down syndrome or 22q11.2 deletion syndrome. This review shows that different episodic processes develop at different rates, and that across a broad set of different neurodevelopmental disorders there are various types of episodic memory impairment, each with possibly a different character. This literature is in agreement with the idea that episodic memory is a multifaceted process.

  19. Epigenetic and transgenerational mechanisms in infection-mediated neurodevelopmental disorders.

    Science.gov (United States)

    Weber-Stadlbauer, U

    2017-05-02

    Prenatal infection is an environmental risk factor for various brain disorders with neurodevelopmental components, including autism spectrum disorder and schizophrenia. Modeling this association in animals shows that maternal immune activation negatively affects fetal brain development and leads to the emergence of behavioral disturbances later in life. Recent discoveries in these preclinical models suggest that epigenetic modifications may be a critical molecular mechanism by which prenatal immune activation can mediate changes in brain development and functions, even across generations. This review discusses the potential epigenetic mechanisms underlying the effects of prenatal infections, thereby highlighting how infection-mediated epigenetic reprogramming may contribute to the transgenerational transmission of pathological traits. The identification of epigenetic and transgenerational mechanisms in infection-mediated neurodevelopmental disorders appears relevant to brain disorders independently of existing diagnostic classifications and may help identifying complex patterns of transgenerational disease transmission beyond genetic inheritance. The consideration of ancestral infectious histories may be of great clinical interest and may be pivotal for developing new preventive treatment strategies against infection-mediated neurodevelopmental disorders.

  20. Differential effects of rhythmic auditory stimulation and neurodevelopmental treatment/Bobath on gait patterns in adults with cerebral palsy: a randomized controlled trial.

    Science.gov (United States)

    Kim, Soo Ji; Kwak, Eunmi E; Park, Eun Sook; Cho, Sung-Rae

    2012-10-01

    To investigate the effects of rhythmic auditory stimulation (RAS) on gait patterns in comparison with changes after neurodevelopmental treatment (NDT/Bobath) in adults with cerebral palsy. A repeated-measures analysis between the pretreatment and posttreatment tests and a comparison study between groups. Human gait analysis laboratory. Twenty-eight cerebral palsy patients with bilateral spasticity participated in this study. The subjects were randomly allocated to either neurodevelopmental treatment (n = 13) or rhythmic auditory stimulation (n = 15). Gait training with rhythmic auditory stimulation or neurodevelopmental treatment was performed three sessions per week for three weeks. Temporal and kinematic data were analysed before and after the intervention. Rhythmic auditory stimulation was provided using a combination of a metronome beat set to the individual's cadence and rhythmic cueing from a live keyboard, while neurodevelopmental treatment was implemented following the traditional method. Temporal data, kinematic parameters and gait deviation index as a measure of overall gait pathology were assessed. Temporal gait measures revealed that rhythmic auditory stimulation significantly increased cadence, walking velocity, stride length, and step length (P < 0.05). Kinematic data demonstrated that anterior tilt of the pelvis and hip flexion during a gait cycle was significantly ameliorated after rhythmic auditory stimulation (P < 0.05). Gait deviation index also showed modest improvement in cerebral palsy patients treated with rhythmic auditory stimulation (P < 0.05). However, neurodevelopmental treatment showed that internal and external rotations of hip joints were significantly improved, whereas rhythmic auditory stimulation showed aggravated maximal internal rotation in the transverse plane (P < 0.05). Gait training with rhythmic auditory stimulation or neurodevelopmental treatment elicited differential effects on gait patterns in adults with cerebral palsy.

  1. Relationships between cerebral flow velocities and neurodevelopmental outcomes in children with moderate to severe traumatic brain injury.

    Science.gov (United States)

    O'Brien, Nicole Fortier; Maa, Tensing; Moore-Clingenpeel, Melissa; Rosenberg, Nathan; Yeates, Keith Owen

    2017-12-20

    This study aimed to determine relationships between cerebral blood flow and neurodevelopmental outcomes in children with moderate to severe traumatic brain injury (TBI). Children with TBI, a Glasgow Coma Score of 8-12, and abnormal brain imaging were enrolled prospectively. Cerebral blood flow velocity (CBFV) was assessed within 24 h of trauma and daily thereafter through death, discharge, or hospital day 8, whichever came first. Twelve months from injury, participants completed neurodevelopmental testing. Sixty-nine patients were enrolled. Low flow velocities (flow velocities (± 2 SD around age/gender normal) were seen in 43% of participants (n = 30). High flow velocities (> 2 SD above age and gender normal with a Lindegaard ratio (LR)  2 SD above age/gender normal with LR ≥ 3) was identified in 28% (n = 19). Children with good outcomes based on GOS-E Peds scoring were more likely to have had normal flow velocity than other flow patterns. No other differences in neurodevelopmental outcomes were noted. Individual patient responses to TBI in terms of CBFV alterations were heterogeneous. Low flow was uniformly associated with a poor outcome. Patients with good outcomes were more likely to have normal flow. This suggests CBFV may serve as a prognostic indicator in children with TBI. Future studies are needed to determine if aberrant CBFVs are also a therapeutic target.

  2. The effect of musical attention control training (MACT) on attention skills of adolescents with neurodevelopmental delays: a pilot study.

    Science.gov (United States)

    Pasiali, Varvara; LaGasse, A Blythe; Penn, Saundra L

    2014-01-01

    Given the effect of musical training on the rate and accuracy of processing auditory information, therapeutic uses of music may potentially have remedial benefits for individuals with neurodevelopmental deficits. However, additional studies are needed to establish efficacy of music therapy interventions for attention skills in children/adolescents with neurodevelopmental disabilities including those with Autism Spectrum Disorders (ASD). To establish feasibility and preliminary efficacy of a group music therapy protocol to improve attention skills (sustained, selective, attentional control/switching) in adolescents diagnosed with autism and/or developmental delays. This single group pretest/posttest study took place in a private school for high functioning adolescents with neurodevelopmental delays. Nine students (4 males, 5 females), ages 13 to 20, participated in the study. Autism severity was assessed using the CARS2-HF and indicated the following distribution for study participants: severe (n = 3), mild (n = 4), or minimal/no (n = 2) symptoms. We assessed feasibility of implementing a 45-min Musical Attention Control Training (MACT) intervention delivered by a board-certified music therapist eight times over 6 weeks in a school setting. We also examined preliminary efficacy of the MACT to improve attention skills using the Test of Everyday Attention for Children (TEA-Ch). Parental consent rate was 100%. All nine participants successfully completed testing measures and 6 weeks of the intervention. Average participation rate was 97%. Data analysis showed positive trends and improvements on measures of attentional control/switching and selective attention. The results showed that the intervention and testing measures were feasible to implement and acceptable to the participants who all completed the protocol. Data analysis demonstrated positive trends indicating that more research on the use of music therapy attention training in high-functioning adolescents with

  3. Autism spectrum disorder in a community-based sample with neurodevelopmental problems in Lagos, Nigeria

    Directory of Open Access Journals (Sweden)

    Yewande O. Oshodi

    2017-01-01

    Full Text Available Autism Spectrum Disorder (ASD is a globally prevalent neurodevelopmental disorder for which early diagnosis and intervention is the mainstay of management. In the African continent, limited data is available regarding the non-clinic based samples. Lack of information available to caregivers and inadequate skilled manpower often limit early detection and access to the few available though under resourced services in the community. Community based screening can be an important drive to create awareness and improve information dissemination regarding services available for those living with this disorder. This is a descriptive cross-sectional study utilizing data obtained from participants of a community-based autism screening exercise. The surveillance exercise was part of the annual Orange Ribbon initiative for autism awareness and screening held in 2014. Data was obtained from 85 participants involved in the Autism Surveillance screening exercise within the Lagos community. Community public service radio announcements state wide and word of mouth were used to invite and enroll eligible participants to the screening and consultation exercise. A second stage screening and a brief sociodemographic questionnaire followed by a third stage clinical interview and evaluation using the Diagnostic and Statistical Manual of Mental Disorders - 5 Edition (DSM 5 were used. Appropriate consultation and referrals to services in the community were given. Participants had a mean age of 7.53 years (SD 4.35. Twenty-nine (34.5% met the diagnosis of ASD. Other diagnosis included attention deficit hyperactivity disorder (ADHD, language and speech disorder, intellectual disability (8.3% and learning disorders (9.5%. Main health concerns to caregivers were poor language development in all (100%, of which 11 (40.7% were non-verbal; gaze avoidance was seen in 14 (48.3% and challenging behavior in 12 (42.9%. Comorbidities included seizure disorders (3.4% and ADHD (6

  4. Premorbid multivariate markers of neurodevelopmental instability in the prediction of adult schizophrenia-spectrum disorder

    DEFF Research Database (Denmark)

    Golembo-Smith, Shana; Schiffman, Jason; Kline, Emily

    2012-01-01

    of 265 Danish children in 1972, when participants were 10-13years old. Parent psychiatric diagnoses were also obtained in order to evaluate the predictive strength of neurodevelopmental factors in combination with genetic risk. Adult diagnostic information was available for 244 members of the sample...... included minor physical anomalies (MPAs), coordination, ocular alignment, laterality, and IQ. Adult diagnoses were assessed through psychiatric interviews in 1992, as well as through a scan of the national psychiatric registry through 2007. Through a combination of multiple childhood predictors, the model...... correctly classified 73% (24 of 33) of the participants who eventually developed a schizophrenia-spectrum outcome in adulthood. Results suggest that, with replication, multivariate premorbid prediction could potentially be a useful complementary approach to identifying individuals at risk for developing...

  5. Translational animal models of autism and neurodevelopmental disorders.

    Science.gov (United States)

    Crawley, Jacqueline N

    2012-09-01

    Autism is a neurodevelopmental disorder whose diagnosis is based on three behavioral criteria: unusual reciprocal social interactions, deficits in communication, and stereotyped repetitive behaviors with restricted interests. A large number of de novo single gene mutations and chromosomal deletions are associated with autism spectrum disorders. Based on the strong genetic evidence, mice with targeted mutations in homologous genes have been generated as translational research tools. Mouse models of autism have revealed behavioral and biological outcomes of mutations in risk genes. The field is now poised to employ the most robust phenotypes in the most replicable mouse models for preclinical screening of novel therapeutics.

  6. Genetics and Function of Neocortical GABAergic Interneurons in Neurodevelopmental Disorders

    Directory of Open Access Journals (Sweden)

    E. Rossignol

    2011-01-01

    Full Text Available A dysfunction of cortical and limbic GABAergic circuits has been postulated to contribute to multiple neurodevelopmental disorders in humans, including schizophrenia, autism, and epilepsy. In the current paper, I summarize the characteristics that underlie the great diversity of cortical GABAergic interneurons and explore how the multiple roles of these cells in developing and mature circuits might contribute to the aforementioned disorders. Furthermore, I review the tightly controlled genetic cascades that determine the fate of cortical interneurons and summarize how the dysfunction of genes important for the generation, specification, maturation, and function of cortical interneurons might contribute to these disorders.

  7. An epigenetic framework for neurodevelopmental disorders: from pathogenesis to potential therapy.

    Science.gov (United States)

    Millan, Mark J

    2013-05-01

    Neurodevelopmental disorders (NDDs) are characterized by aberrant and delayed early-life development of the brain, leading to deficits in language, cognition, motor behaviour and other functional domains, often accompanied by somatic symptoms. Environmental factors like perinatal infection, malnutrition and trauma can increase the risk of the heterogeneous, multifactorial and polygenic disorders, autism and schizophrenia. Conversely, discrete genetic anomalies are involved in Down, Rett and Fragile X syndromes, tuberous sclerosis and neurofibromatosis, the less familiar Phelan-McDermid, Sotos, Kleefstra, Coffin-Lowry and "ATRX" syndromes, and the disorders of imprinting, Angelman and Prader-Willi syndromes. NDDs have been termed "synaptopathies" in reference to structural and functional disturbance of synaptic plasticity, several involve abnormal Ras-Kinase signalling ("rasopathies"), and many are characterized by disrupted cerebral connectivity and an imbalance between excitatory and inhibitory transmission. However, at a different level of integration, NDDs are accompanied by aberrant "epigenetic" regulation of processes critical for normal and orderly development of the brain. Epigenetics refers to potentially-heritable (by mitosis and/or meiosis) mechanisms controlling gene expression without changes in DNA sequence. In certain NDDs, prototypical epigenetic processes of DNA methylation and covalent histone marking are impacted. Conversely, others involve anomalies in chromatin-modelling, mRNA splicing/editing, mRNA translation, ribosome biogenesis and/or the regulatory actions of small nucleolar RNAs and micro-RNAs. Since epigenetic mechanisms are modifiable, this raises the hope of novel therapy, though questions remain concerning efficacy and safety. The above issues are critically surveyed in this review, which advocates a broad-based epigenetic framework for understanding and ultimately treating a diverse assemblage of NDDs ("epigenopathies") lying at the

  8. Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

    National Research Council Canada - National Science Library

    Ikumi Hori; Takanobu Otomo; Mitsuko Nakashima; Fuyuki Miya; Yutaka Negishi; Hideaki Shiraishi; Yutaka Nonoda; Shinichi Magara; Jun Tohyama; Nobuhiko Okamoto; Takeshi Kumagai; Konomi Shimoda; Yoshiya Yukitake; Daigo Kajikawa; Tomohiro Morio; Ayako Hattori; Motoo Nakagawa; Naoki Ando; Ichizo Nishino; Mitsuhiro Kato; Tatsuhiko Tsunoda; Hirotomo Saitsu; Yonehiro Kanemura; Mami Yamasaki; Kenjiro Kosaki; Naomichi Matsumoto; Tamotsu Yoshimori; Shinji Saitoh

    2017-01-01

    Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency...

  9. Cognitive characterization of children with Dravet syndrome: A neurodevelopmental perspective.

    Science.gov (United States)

    Acha, Joana; Pérez, Alejandro; Davidson, Doug J; Carreiras, Manuel

    2015-01-01

    Dravet syndrome (DS) is an epilepsy of infantile onset, usually related to a mutation in gene sodium channel alpha 1 subunit, that leads to different typological seizures before the first year of life. Although most research has focused on the clinical description of the syndrome, some recent studies have focused on its impact on cognitive development, identifying both motor disorders and visual-processing deficits as basic factors affected in adults and children with DS. In this article, we designed a cross-sectional study to examine the cognitive phenotype of children affected by DS from a neurodevelopmental perspective. We report measures for both basic (auditory perception, visual and phonological processing, motor coordination) and higher order cognitive processes (verbal production, categorization, and executive function) in two age groups of DS children (M = 8.8 and M = 14.1) and control children of the same chronological age. Results showed an important cognitive delay in DS children with respect to controls in both basic and higher order cognitive abilities, with a better general outcome in tasks that required processing visual material (visual memory and categorization) than in tasks involving verbal material. In addition, performance of DS children in certain basic tasks (visual memory) correlated with performance on complex ones (categorization). These findings encourage promoting an early identification of not only clinical but also cognitive features in DS children from very early stages of development in order to optimize their neurodevelopmental outcome.

  10. Epigenetic Mechanisms and Therapeutic Perspectives for Neurodevelopmental Disorders

    Directory of Open Access Journals (Sweden)

    Kunio Miyake

    2012-04-01

    Full Text Available The number of children with mild neurodevelopmental disorders, such as autism, has been recently increasing in advanced countries. This increase is probably caused by environmental factors rather than genetic factors, because it is unlikely that genetic mutation rates suddenly increased within a short period. Epigenetics is a mechanism that regulates gene expression, depending not on the underlying DNA sequence but on the chemical modifications of DNA and histone proteins. Because mental stress can alter the epigenetic status in neuronal cells, environmental factors may alter brain function through epigenetic changes. However, one advantage of epigenetic changes is their reversibility. Therefore, diseases due to abnormal epigenetic regulation are theoretically treatable. In fact, several drugs for treating mental diseases are known to have restoring effects on aberrant epigenetic statuses, and a novel therapeutic strategy targeting gene has been developed. In this review, we discuss epigenetic mechanisms of congenital and acquired neurodevelopmental disorders, drugs with epigenetic effects, novel therapeutic strategies for epigenetic diseases, and future perspectives in epigenetic medicine.

  11. Neurodevelopmental pathways to preterm children's specific and general mathematic abilities.

    Science.gov (United States)

    Jaekel, Julia; Bartmann, Peter; Schneider, Wolfgang; Wolke, Dieter

    2014-10-01

    Preterm children have problems with mathematics but knowledge about the predictors of specific mathematic abilities in preterm populations is scarce. This study investigated neurodevelopmental pathways to children's general and specific mathematic abilities across the full gestational age range. Prospective geographically defined longitudinal investigation in Germany. 947 children across the full gestational age range (23-41 weeks). Outcome measures. At 8 years, children's cognitive and mathematic abilities were measured and residuals of a regression predicting mathematic scores by IQ were used to identify specific mathematic abilities. Neurodevelopmental cascade models revealed that adverse effects of preterm birth on mathematic abilities were mediated by neonatal risk. Specific mathematic abilities were uniquely predicted by the duration of hospitalization and ventilation. Prolonged neonatal medical treatment and, in particular, mechanical ventilation may lead to specific impairments in mathematic tasks. These findings have implications for the mode of respiratory support in neonates, routine follow-up and intervention planning as well as research about brain reorganization after preterm birth. Copyright © 2014. Published by Elsevier Ireland Ltd.

  12. Thyroid hormones for preventing neurodevelopmental impairment in preterm infants.

    Science.gov (United States)

    Osborn, D A

    2001-01-01

    Observational studies have shown an association between transiently low thyroid hormone levels in preterm infants in the first weeks of life (transient hypothyroxinemia) and abnormal neurodevelopmental outcome. Thyroid hormone therapy might prevent this morbidity. To assess whether thyroid hormone therapy in preterm infants without congenital hypothyroidism results in clinically important changes in neonatal and long term outcomes in terms of benefits and harms. The standard search strategy of the Neonatal Review Group was used. This included searches of the Oxford Database of Perinatal Trials, Cochrane Controlled Trials Register, MEDLINE, previous reviews including cross references, abstracts, conferences, symposia proceedings, expert informants and journal handsearching in the English language. All trials using random or quasi-random patient allocation, in which thyroid hormone therapy (either treatment or prophylaxis) was compared to control in premature infants. Primary clinical outcomes included measures of neurodevelopmental outcome and mortality. Assessment of trial quality, data extraction and synthesis of data, using relative risk (RR) and weighted mean difference (WMD), were performed using standard methods of the Cochrane Collaboration and its Neonatal Review Group. Nine studies were identified that compared thyroid hormone treatment to control. Four randomized and one quasi-randomized study met inclusion criteria. All studies enrolled preterm infants thyroid hormones. Four studies used thyroxine, whereas Amato 1989 used triiodothyronine. Only two studies with neurodevelopmental follow-up were of good methodology. All studies were of small size with the largest, van Wassenaer 1997, enrolling 200 infants. Meta-analysis of five studies found no significant difference in mortality to discharge (typical RR 0.70, 95% CI 0.42, 1.17) in infants who received thyroid hormone treatment compared to controls. Meta-analysis of two studies found no significant

  13. Targeted treatments for cognitive and neurodevelopmental disorders in tuberous sclerosis complex.

    Science.gov (United States)

    de Vries, Petrus J

    2010-07-01

    Until recently, the neuropsychiatric phenotype of tuberous sclerosis complex (TSC) was presumed to be caused by the structural brain abnormalities and/or seizures seen in the disorder. However, advances in the molecular biology of the disorder have shown that TSC is a mammalian target of rapamycin (mTOR) overactivation syndrome, and that direct molecular pathways exist between gene mutation and cognitive/neurodevelopmental phenotype. Molecularly-targeted treatments using mTOR inhibitors (such as rapamycin) are showing great promise for the physical and neurological phenotype of TSC. Pre-clinical and early-phase clinical studies of the cognitive and neurodevelopmental features of TSC suggest that some of the neuropsychiatric phenotypes might also be reversible, even in adults with the disorder. TSC, fragile X, neurofibromatosis type 1, and disorders associated with phosphatase and tensin homo (PTEN) mutations, all signal through the mTOR signaling pathway, with the TSC1-TSC2 protein complex as a molecular switchboard at its center. Together, these disorders represent as much as 14% of autism spectrum disorders (ASD). Therefore, we suggest that this signaling pathway is a key to the underlying pathophysiology of a significant subset of individuals with ASD. The study of molecularly targeted treatments in TSC and related disorders, therefore, may be of scientific and clinical value not only to those with TSC, but to a larger population that may have a neuropsychiatric phenotype attributable to mTOR overactivation or dysregulation. (c) 2010 The American Society for Experimental NeuroTherapeutics, Inc. Published by Elsevier Inc. All rights reserved.

  14. Disruption of the ASTN2 / TRIM32 locus at 9q33.1 is a risk factor in males for Autism Spectrum Disorders, ADHD and other neurodevelopmental phenotypes

    DEFF Research Database (Denmark)

    Lionel, Anath C; Tammimies, Kristiina; Vaags, Andrea K

    2014-01-01

    during brain development. To determine the prevalence of astrotactin mutations and delineate their associated phenotypic spectrum, we screened ASTN2/TRIM32 and ASTN1 (1q25.2) for exonic CNVs in clinical microarray data from 89,985 individuals across 10 sites, including 64,114 neurodevelopmental disorder...... in the neurodevelopmental disorder subjects (p=0.002) compared with 44,085 population-based controls. Frequent phenotypes observed in individuals with such deletions included Autism Spectrum Disorders (ASD), Attention Deficit Hyperactivity Disorder (ADHD), speech delay, anxiety and Obsessive Compulsive Disorder (OCD......). The 3'-terminal ASTN2 deletions were significantly enriched compared with controls in males with neurodevelopmental disorders, but not in females. Upon quantifying ASTN2 human brain RNA, we observed shorter isoforms expressed from an alternative transcription start site of recent evolutionary origin...

  15. Schatzki's Ring in Angelman Syndrome: A Diagnostic Dilemma in Neurodevelopmentally Disabled Patients

    OpenAIRE

    Choi, Young Sammy; Sachar, David Scott

    2009-01-01

    Angelman Syndrome is a neurodevelopmental condition with a characteristic phenotype that includes epilepsy and lack of communication. We describe its first reported association with Schatzki's ring that presented as a life-long history of intermittent retching. Because of associated cognitive dysfunction, careful diagnostic consideration is required to detect this underlying condition. Keywords Schatzki's ring; Angelman Syndrome; Esophageal "B" ring; Barium esophagogram; Neurodevelopmental de...

  16. Piece Work: Fabric Collage as a Neurodevelopmental Approach to Trauma Treatment

    Science.gov (United States)

    Homer, Eliza S.

    2015-01-01

    This article describes the use of collaborative fabric collage based on a neurodevelopmental adaptation for an adult who was being treated for trauma. The case demonstrates the value of thinking about neurodevelopmental factors when creating art therapy interventions. A biologically respectful treatment that offers relational, relevant,…

  17. Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review.

    Science.gov (United States)

    Leggett, Victoria; Jacobs, Patricia; Nation, Kate; Scerif, Gaia; Bishop, Dorothy V M

    2010-02-01

    To review systematically the neurodevelopmental characteristics of individuals with sex chromosome trisomies (SCTs). A bibliographic search identified English-language articles on SCTs. The focus was on studies unbiased by clinical referral, with power of at least 0.69 to detect an effect size of 1.0. We identified 35 articles on five neonatally identified samples that had adequate power for our review. An additional 11 studies were included where cases had been identified for reasons other than neurodevelopmental concerns. Individuals with an additional X chromosome had mean IQs that were within broadly normal limits but lower than the respective comparison groups, with verbal IQ most affected. Cognitive outcomes were poorest for females with XXX. Males with XYY had normal-range IQs, but all three SCT groups (XXX, XXY, and XYY) had marked difficulties in speech and language, motor skills, and educational achievement. Nevertheless, most adults with SCTs lived independently. Less evidence was available for brain structure and for attention, social, and psychiatric outcomes. Within each group there was much variation. Individuals with SCTs are at risk of cognitive and behavioural difficulties. However, the evidence base is slender, and further research is needed to ascertain the nature, severity, and causes of these difficulties in unselected samples.

  18. Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review*

    Science.gov (United States)

    LEGGETT, VICTORIA; JACOBS, PATRICIA; NATION, KATE; SCERIF, GAIA; BISHOP, DOROTHY V M

    2010-01-01

    Aim To review systematically the neurodevelopmental characteristics of individuals with sex chromosome trisomies (SCTs). Method A bibliographic search identified English-language articles on SCTs. The focus was on studies unbiased by clinical referral, with power of at least 0.69 to detect an effect size of 1.0. Results We identified 35 articles on five neonatally identified samples that had adequate power for our review. An additional 11 studies were included where cases had been identified for reasons other than neurodevelopmental concerns. Individuals with an additional X chromosome had mean IQs that were within broadly normal limits but lower than the respective comparison groups, with verbal IQ most affected. Cognitive outcomes were poorest for females with XXX. Males with XYY had normal-range IQs, but all three SCT groups (XXX, XXY, and XYY) had marked difficulties in speech and language, motor skills, and educational achievement. Nevertheless, most adults with SCTs lived independently. Less evidence was available for brain structure and for attention, social, and psychiatric outcomes. Within each group there was much variation. Interpretation Individuals with SCTs are at risk of cognitive and behavioural difficulties. However, the evidence base is slender, and further research is needed to ascertain the nature, severity, and causes of these difficulties in unselected samples. PMID:20059514

  19. Twin-twin transfusion syndrome: neurodevelopmental screening test

    Directory of Open Access Journals (Sweden)

    Amabile Vessoni Arias

    2015-03-01

    Full Text Available Objective To assess the neurodevelopmental functions (cognition, language and motor function of survivors of twin-twin transfusion syndrome (TTTS. Method Observational cross-sectional study of a total of 67 monochorionic diamniotic twins who underwent fetoscopic laser coagulation (FLC for treatment of TTTS. The study was conducted at the Center for Investigation in Pediatrics (CIPED, Universidade Estadual de Campinas. Ages ranged from one month and four days to two years four months. Bayley Scales of Infant and Toddler Development Screening Test-III, were used for evaluation. Results Most children reached the competent category and were classified as having appropriate performance. The preterm children scored worse than term infants for gross motor subtest (p = 0.036. Conclusion The majority of children reached the expected development according to their age. Despite the good neurodevelopment, children classified at risk should be monitored for development throughout childhood.

  20. The genetic relationship between handedness and neurodevelopmental disorders☆

    Science.gov (United States)

    Brandler, William M.; Paracchini, Silvia

    2014-01-01

    Handedness and brain asymmetry have been linked to neurodevelopmental disorders such as dyslexia and schizophrenia. The genetic nature of this correlation is not understood. Recent discoveries have shown handedness is determined in part by the biological pathways that establish left/right (LR) body asymmetry during development. Cilia play a key role in this process, and candidate genes for dyslexia have also been recently shown to be involved in cilia formation. Defective cilia result not only in LR body asymmetry phenotypes but also brain midline phenotypes such as an absent corpus callosum. These findings suggest that the mechanisms for establishing LR asymmetry in the body are reused for brain midline development, which in turn influences traits such as handedness and reading ability. PMID:24275328

  1. Angelman Syndrome: Insights into Genomic Imprinting and Neurodevelopmental Phenotypes

    Science.gov (United States)

    Mabb, Angela M.; Judson, Matthew C.; Zylka, Mark J.; Philpot, Benjamin D.

    2011-01-01

    Angelman syndrome (AS) is a severe genetic disorder caused by mutations or deletions of the maternally inherited UBE3A gene. UBE3A encodes an E3 ubiquitin ligase that is expressed biallelically in most tissues but is maternally expressed in almost all neurons. In this review, we describe recent advances in understanding the expression and function of UBE3A in the brain and the etiology of AS. We highlight current AS model systems, epigenetic mechanisms of UBE3A regulation, and the identification of potential UBE3A substrates in the brain. In the process, we identify major gaps in our knowledge that, if bridged, could move us closer to identifying treatments for this debilitating neurodevelopmental disorder. PMID:21592595

  2. Paradoxical Benzodiazepine Response: A Rationale for Bumetanide in Neurodevelopmental Disorders?

    Science.gov (United States)

    Bruining, Hilgo; Passtoors, Laurien; Goriounova, Natalia; Jansen, Floor; Hakvoort, Britt; de Jonge, Maretha; Poil, Simon-Shlomo

    2015-08-01

    The diuretic agent bumetanide has recently been put forward as a novel, promising treatment of behavioral symptoms in autism spectrum disorder (ASD) and related conditions. Bumetanide can decrease neuronal chloride concentrations and may thereby reinstate γ-aminobutyric acid (GABA)-ergic inhibition in patients with neurodevelopmental disorders. However, strategies to select appropriate candidates for bumetanide treatment are lacking. We hypothesized that a paradoxical response to GABA-enforcing agents such as benzodiazepines may predict the efficacy of bumetanide treatment in neurodevelopmental disorders. We describe a case of a 10-year-old girl with ASD, epilepsy, cortical dysplasia, and a 15q11.2 duplication who had exhibited marked behavioral arousal after previous treatment with clobazam, a benzodiazepine. We hypothesized that this response indicated the presence of depolarizing excitatory GABA and started bumetanide treatment with monitoring of behavior, cognition, and EEG. The treatment resulted in a marked clinical improvement in sensory behaviors, rigidity, and memory performance, which was substantiated by questionnaires and cognitive assessments. At baseline, the girl's EEG showed a depression in absolute α power, an electrographic sign previously related to ASD, which was normalized with bumetanide treatment. The effects of bumetanide on cognition and EEG seemed to mirror the "nonparadoxical" responses to benzodiazepines in healthy subjects. In addition, temporal lobe epilepsy and cortical dysplasia have both been linked to disturbed chloride homeostasis and seem to support our assumption that the observed paradoxical response was due to GABA-mediated excitation. This case highlights that a paradoxical behavioral response to GABA-enforcing drugs may constitute a framework for targeted treatment with bumetanide. Copyright © 2015 by the American Academy of Pediatrics.

  3. Neurodevelopmental profile in Angelman syndrome: more than low intelligence quotient.

    Science.gov (United States)

    Micheletti, S; Palestra, F; Martelli, P; Accorsi, P; Galli, J; Giordano, L; Trebeschi, V; Fazzi, E

    2016-10-21

    Angelman Syndrome (AS) is a rare neurodevelopment disorder resulting from deficient expression or function of the maternally inherited allele of UBE3A gene. The aim of the study is to attempt at providing a detailed definition of neurodevelopmental profile in AS, with particular regard to motor, cognitive, communicative, behavioural and neurovisual, features by using standardized instruments. A total of ten subjects aged from 5 to 11 years (4 males and 6 females) with molecular confirmed diagnosis of AS (7 15q11.2-q13 deletion and 3 UBE3A mutation) were enrolled in our study. All of them underwent an assessment protocol including neurological and neurovisual examination and the evaluation of motor (Gross Motor Function Measure Scale), cognitive (Griffiths Mental Development Scale and Uzgiris-Hunt Scale); adaptive (Vineland Adaptive Behavioural Scale); communication (MacArthur-Bates Communicative Development Inventory and video-recordings children's verbal expression), behavioural aspects (IPDDAG Scale) and neurovisual aspects. All children presented motor function involvement. A severe cognitive impairment was detected with different profiles according to the test applied. In all cases, communicative disability (phonemic inventory, word/gesture comprehension and production) and symptoms of inattention disorder were revealed. Neurovisual impairment was characterized by refractive errors, fundus oculi anomalies, strabismus and/or oculomotor dysfunction. AS presents a complex neurodevelopmental profile in which several aspects play a negative role in global development leading to a severe functional impairment. Intellectual disability is not the only component because neurovisual functions and behavioural disorders may worsen the global function and are needed of specific rehabilitation programs.

  4. Neurodevelopmental outcome of 31 patients with borderline fetal ventriculomegaly.

    Science.gov (United States)

    Tatlı, Burak; Özer, Irmak; Ekici, Barış; Kalelioğlu, Ibrahim; Has, Recep; Eraslan, Emine; Yüksel, Atıl

    2012-09-01

    We present the neurodevelopmental outcome of patients with isolated borderline fetal ventriculomegaly. The present study was carried out at the Department of Pediatric Neurology, Istanbul Medical Faculty, Istanbul University in July-December 2010. Prenatal second trimester detailed ultrasound examinations were performed by obstetricians at the Prenatal Diagnosis Department of Istanbul Medical School, and 31 consecutive patients aged 8-33 months have been included in the study. Four patients with atrial diameters of over 15 mm and three patients with central nervous system development anomalies were excluded from the study. In order to assess the neuromotor development of patients, neurologic examinations and the Bayley Scales of Infant Development (BSID-III) were used. Nine patients were female (29%) and 22 were male (71%). In the postnatal period, tuberous sclerosis was found in one patient, Down syndrome in one, and equinovarus foot deformity in one. Atrial diameter was patients and >12 mm in 13. Cranial ultrasounds done in the first postnatal month revealed persisting ventriculomegaly in nine patients. The two patients who scored significantly low in all areas on the Bayley Scales of Infant Development were the patients with Down syndrome and tuberous sclerosis. The one scoring low in the motor area was the patient with the equinovarus foot deformity. The BSID-III scores of the patients whose prenatal ventricle diameter was patients showing slight developmental delay were the ones whose cranial ultrasound in the first postnatal month showed persisting ventriculomegaly. In patients with borderline fetal ventriculomegaly, atrial diameter being more than 12 mm, the condition persisting in the first postnatal month and the presence of accompanying syndromes and malformations all constitute clear risk factors for neurodevelopmental outcome. Copyright © 2012 Elsevier B.V. All rights reserved.

  5. Markers of neurodevelopmental impairments in early-onset psychosis

    Directory of Open Access Journals (Sweden)

    Petruzzelli MG

    2015-07-01

    Full Text Available Maria Giuseppina Petruzzelli,1 Lucia Margari,1 Francesco Craig,1 Maria Gloria Campa,1 Domenico Martinelli,2 Adriana Pastore,3 Marta Simone,1 Francesco Margari3 1Child and Adolescence Neuropsychiatry Unit, Department of Basic Medical Sciences, Neuroscience and Sense Organs, University “Aldo Moro” of Bari, 2Department of Medical and Surgical Sciences; University of Foggia, Foggia, 3Psychiatry Unit, Department of Basic Medical Sciences, Neuroscience and Sense Organ, University “Aldo Moro” of Bari, Bari, Italy Background: The aim of this study was to assess the association between the clinical and neurobiological markers of neurodevelopmental impairments and early-onset schizophrenia spectrum psychosis. Methods: A sample of 36 patients with early-onset schizophrenia spectrum psychosis was compared to a control sample of 36 patients with migraine. We assessed early childhood neurodevelopmental milestones using a modified version of the General Developmental Scale, general intellectual ability using the Wechsler Intelligence Scale for Children–Revised or Leiter International Performance Scale–Revised for patients with speech and language abnormalities, and neurological soft signs with specific regard to subtle motor impairment. Results: Subjects with early-onset psychosis had a higher rate of impaired social development (P=0.001, learning difficulties (P=0.04, enuresis (P=0.0008, a lower intelligence quotient (P<0.001, and subtle motor impairments (P=0.005 than control subjects. Conclusion: We suggest that neurodevelopment in early-onset psychosis is characterized by a global impairment of functional and adaptive skills that manifests from early childhood, rather than a delay or limitation in language and motor development. The current evidence is based on a small sample and should be investigated in larger samples in future research. Keywords: early-onset psychosis, early-onset schizophrenia, neurodevelopment, social cognition

  6. Queixas e preocupações otológicas e as dificuldades de comunicação de indivíduos idosos Otological complaints and concerns and communication difficulties of aged individuals

    Directory of Open Access Journals (Sweden)

    Lucila Leal Calais

    2008-03-01

    Full Text Available OBJETIVO: Investigar as queixas e as preocupações otológicas de indivíduos idosos, bem como as dificuldades de comunicação enfrentadas por esta população. MÉTODOS: Foram avaliados 50 idosos (61 a 90 anos de idade, sendo 8 homens e 42 mulheres, que apresentavam configuração audiométrica descendente simétrica. Os pacientes foram submetidos a uma entrevista e testes auditivos. Neste artigo, foram apresentados e discutidos os dados da entrevista e a correlação das queixas otológicas com os graus de perda auditiva. RESULTADOS: A queixa de perda auditiva esteve presente em 70% da amostra e revelou associação com a preocupação quanto à própria perda, com o queixa de dificuldade de comunicação e com a quantidade de situações nas quais a dificuldade é percebida, sendo a presença do ruído de fundo o aspecto mais citado. A queixa de zumbido (52% apresentou associação com a preocupação envolvendo o próprio zumbido, enquanto que a tontura (38%, além de semelhante correlação, revelou associação com a dificuldade de comunicação. Ocorreu uma associação estatisticamente significante do grau da perda nas freqüências baixas e médias com a queixa de perda auditiva e de zumbido, enquanto que nas freqüências altas, além destas correlações, também ocorreu associação estatisticamente significante da perda auditiva com a queixa de dificuldade de comunicação. CONCLUSÕES: Dentre as queixas otológicas, a queixa de perda auditiva foi predominante entre os idosos. A idade e o gênero não influenciaram as queixas e as preocupações otológicas. O grau de perda auditiva influenciou as queixas otológicas de perda auditiva, de zumbido e a dificuldade de comunicação.PURPOSE: To investigate the otological complaints and concerns of aged individuals, as well as the communication difficulties they face. METHODS: Fifty elderly subjects (eight men and 42 women with ages ranging from 61 to 90 years were evaluated. All of

  7. Early executive function deficit in preterm children and its association with neurodevelopmental disorders in childhood: a literature review.

    Science.gov (United States)

    Sun, Jing; Buys, Nicholas

    2012-01-01

    The purpose of this study is to examine the association of deficits of executive function (EF) and neurodevelopmental disorders in preterm children and the potential of assessing EF in infants as means of early identification. EF refers to a collection of related but somewhat discrete abilities, the main ones being working memory, inhibition, and planning. There is a general consensus that EF governs goal-directed behavior that requires holding those plans or programs on-line until executed, inhibiting irrelevant action and planning a sequence of actions. EF plays an essential role in cognitive development and is vital to individual social and intellectual success. Most researchers believe in the coordination and integrate cognitive-perceptual processes in relation to time and space, thus regulating higher-order cognitive processes, such as problem solving, reasoning, logical and flexible thinking, and decision-making. The importance of the maturation of the frontal lobe, particularly the prefrontal cortex, to the development of EF in childhood has been emphasized. Therefore, any abnormal development in the prefrontal lobes of infants and children could be expected to result in significant deficits in cognitive functioning. As this is a late-maturing part of the brain, various neurodevelopmental disorders, such as autism spectrum disorders, attention deficit hyperactivity disorder, language disorders, and schizophrenia, as well as acquired disorders of the right brain (and traumatic brain injury) impair EF, and the prefrontal cortex may be particularly susceptible to delayed development in these populations. The deficits of EF in infants are persistent into childhood and related to neurodevelopmental disorders in childhood and adolescence.

  8. Clinical, Cognitive, and Neuroimaging Evidence of a Neurodevelopmental Continuum in Offspring of Probands With Schizophrenia and Bipolar Disorder.

    Science.gov (United States)

    Sugranyes, Gisela; de la Serna, Elena; Borras, Roger; Sanchez-Gistau, Vanessa; Pariente, Jose C; Romero, Soledad; Baeza, Inmaculada; Díaz-Caneja, Covadonga M; Rodriguez-Toscano, Elisa; Moreno, Carmen; Bernardo, Miguel; Moreno, Dolores; Vieta, Eduard; Castro-Fornieles, Josefina

    2017-10-21

    Studies in child and adolescent offspring of patients with schizophrenia or bipolar disorders may help understand the influence of neurodevelopmental factors on the premorbid phenotype of these disorders. To assess whether a combination of neurodevelopmental factors discriminates between young offspring of patients with schizophrenia (SzO) or bipolar disorder (BpO) and community controls (CcO). To assess the association between these factors and rates of psychiatric diagnoses in high risk (HR) youth. One hundred thirty-three HR offspring (47 SzO and 86 BpO) and 84 CcO, aged 6-17, underwent cross-sectional clinical, neurocognitive, and structural neuroimaging assessment. Information on perinatal events and early childhood development was also obtained. General linear mixed models were performed to assess group discrimination and association with lifetime axis I psychiatric disorders. Multivariate analyses revealed that greater neurological soft signs (NSS), less total grey matter volume (GMV) and a higher frequency of obstetric complications discriminated HR offspring from CcO. When comparing each group individually, greater NSS and a higher frequency of obstetric complications discriminated SzO from CcO, and BpO from CcO, while lower intelligence also discriminated SzO from CcO and from BpO. Within HR offspring, lower intelligence and less total GMV were associated with lifetime incidence of psychiatric disorders. Both SzO and BpO showed evidence of neurodevelopmental insult, although this may have a greater impact in SzO. Lower intelligence and less total GMV hold potential as biomarkers of risk for psychiatric disorders in HR youth.

  9. Neurodevelopmental disorders are highly over-represented in children with obesity: A cross-sectional study.

    Science.gov (United States)

    Wentz, Elisabet; Björk, Anna; Dahlgren, Jovanna

    2017-01-01

    To investigate prevalence of neurodevelopmental disorders in children with obesity and to compare body mass index (BMI) and metabolic profile in the children. Seventy-six children (37 girls, 39 boys) were consecutively recruited from a university outpatient clinic specialized in severe obesity. Neurodevelopmental disorders including attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and developmental coordination disorder (DCD) were assessed using interviews and questionnaires. Neurodevelopmental diagnoses were collected retrospectively in medical records. BMI ranged between 1.9 and 5.9 SDS and age between 5.1 and 16.5 years. In 13.2% and 18.4% ASD and ADHD was assigned, respectively. In addition, 25% screened positive for DCD, 31.6% had at least one neurodevelopmental disorder, and 18.4% had a parent who screened positive for adult ADHD. Girls with ASD/ADHD had higher BMI SDS than girls without neurodevelopmental disorder (P = 0.006). One third of children with obesity referred to specialist centers have a neurodevelopmental disorder including deviant motor skills, and these problems may deteriorate weight status. One fifth of the parents exhibit ADHD symptomatology which could partly explain the poor adherence by some families in obesity units. Future obesity therapy could benefit from incorporating a neurodevelopmental treatment approach. © 2016 The Obesity Society.

  10. STRENGTHENING THE REFLECTIVE FUNCTIONING CAPACITIES OF PARENTS WHO HAVE A CHILD WITH A NEURODEVELOPMENTAL DISABILITY THROUGH A BRIEF, RELATIONSHIP-FOCUSED INTERVENTION.

    Science.gov (United States)

    Sealy, Julie; Glovinsky, Ira P

    2016-01-01

    This randomized controlled trial examined the reflective functioning capacities of caregivers who have a child with a neurodevelopmental disorder between the ages of 2 years 0 months and 6 years 11 months. Children with a neurodevelopmental disorder receive a range of diagnoses, including sutism; however, they all exhibit social communication challenges that can derail social relationships. Forty parent-child dyads in Barbados were randomly assigned to either a developmental individual-difference, relationship-based/floortime(DIR/FT) group (n = 20), or a psychoeducational (wait-list) group (n = 20) with parental reflective functioning measured before and after a 12-week DIR/FT treatment intervention. Results revealed significant gains in parental reflective functioning in the treatment group, as compared to the psychoeducational (wait-list) group, after the 12-week relationship-focused intervention. © 2016 Michigan Association for Infant Mental Health.

  11. "With concord of sweet sounds...": new perspectives on the diversity of musical experience in autism and other neurodevelopmental conditions.

    Science.gov (United States)

    Heaton, Pamela; Allen, Rory

    2009-07-01

    Questions about music's evolution and functions have long excited interest among scholars. More recent theoretical accounts have stressed the importance of music's social origins and functions. Autism and Williams syndrome, neurodevelopmental disorders supposedly characterized by contrasting social and musical phenotypes, have been invoked as evidence for these. However, empirical data on social skills and deficits in autism and Williams syndrome do not support the notion of contrasting social phenotypes: research findings suggest that the social deficits characteristic of both disorders may increase rather than reduce the importance of music. Current data do not allow for a direct comparison of musical phenotypes in autism and Williams syndrome, although it is noted that deficits in music cognition have been observed in Williams syndrome, but not in autism. In considering broader questions about musical understanding in neurodevelopmental disorders, we conclude that intellectual impairment is likely to result in qualitative differences between handicapped and typical listeners, but this does not appear to limit the extent to which individuals can derive benefits from the experience of listening to music.

  12. Participation in Physical Activity for Children with Neurodevelopmental Disorders

    Directory of Open Access Journals (Sweden)

    Rubab G. Arim

    2012-01-01

    Full Text Available The purpose of this study was to compare rates of participation for children (4–9 years of age with neurodevelopmental disorders (NDDs with and without externalizing behavior problems (EBPs with children without disability and to examine mediators of the relation between disability and physical activity participation. Data for this study were drawn from Cycle 7 (2006-07 of the Canadian National Longitudinal Survey of Children and Youth (NLSCY. The frequency of children’s participation in organized sports or physical activities varied depending on the child’s health condition with children with NDDs and both NDDs and EBPs participating least in organized sports or physical activities followed by children with EBPs only. In contrast, there were no statistically significant differences by health group for children’s participation in unorganized sports or physical activities. These differences remained even after controlling for the effects of other child and family sociodemographic characteristics, except for children with EBPs only. These findings highlight the importance of considering children’s primary and other existing health conditions as well as family sociodemographic characteristics in order to better understand the factors that influence participation in organized physical activities for children with disabilities.

  13. Neurodevelopmental outcome in Angelman syndrome: genotype-phenotype correlations.

    Science.gov (United States)

    Mertz, Line Granild Bie; Thaulov, Per; Trillingsgaard, Anegen; Christensen, Rikke; Vogel, Ida; Hertz, Jens Michael; Ostergaard, John R

    2014-07-01

    Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability, developmental delay, lack of speech, and epileptic seizures. Previous studies have indicated that children with AS due to 15q11.2-q13 deletions have a more severe developmental delay and present more often autistic features than those with AS caused by other genetic etiologies. The present study investigated the neurodevelopmental profiles of the different genetic etiologies of AS, and examined the evolution of mental development and autistic features over a 12-year period in children with a 15q11.2-q13 deletion. This study included 42 children with AS. Twelve had a Class I deletion, 18 had Class II deletions, three showed atypical large deletions, five had paternal uniparental disomy (pUPD) and four had UBE3A mutations. Children with a deletion (Class I and Class II) showed significantly reduced developmental age in terms of visual perception, receptive language, and expressive language when compared to those with a UBE3A mutation and pUPD. Within all subgroups, expressive language performance was significantly reduced when compared to the receptive performance. A follow-up study of seven AS cases with 15q11.2-q13 deletions revealed that over 12 years, the level of autistic features did not change, but both receptive and expressive language skills improved. Copyright © 2014 Elsevier Ltd. All rights reserved.

  14. Neurodevelopmental profile of Down syndrome in Chinese children.

    Science.gov (United States)

    Kwong, K L; Wong, V

    1996-04-01

    To give an overall appraisal of the clinical features of Down syndrome (DS) in Chinese children with emphasis on the neurodevelopmental outcome, and to compare the related complications with that of other races. The records of 124 Chinese children with DS assessed at the Child Assessment Centre of the University Department of Paediatrics in the Duchess of Kent Children's Hospital from 1985 to 1993 were reviewed. Thirty-one per cent of patients had microcephaly. Eighty-five percent (33/39) when assessed in the first year of life had a developmental quotient (DQ) above 50 but only 29% (2/7) had DQ above 50 when assessed after the age of 5. Only two patients (1.6%) had epilepsy: infantile spasms (1) and Lennox-Gastaut syndrome (1). Hearing impairment was found in 45% of children with mild conductive hearing impairment being the most common. Chinese children with DS, when compared with other races, were similarly intellectually disabled, but were less likely to develop epilepsy.

  15. Role of nucleosome remodeling in neurodevelopmental and intellectual disability disorders

    Directory of Open Access Journals (Sweden)

    Alberto J Lopez

    2015-04-01

    Full Text Available It is becoming increasingly important to understand how epigenetic mechanisms control gene expression during neurodevelopment. Two epigenetic mechanisms that have received considerable attention are DNA methylation and histone acetylation. Human exome sequencing and genome-wide association studies have linked several neurobiological disorders to genes whose products actively regulate DNA methylation and histone acetylation. More recently, a third major epigenetic mechanism, nucleosome remodeling, has been implicated in human developmental and intellectual disability disorders. Nucleosome remodeling is driven primarily through nucleosome remodeling complexes with specialized ATP-dependent enzymes. These enzymes directly interact with DNA or chromatin structure, as well as histone subunits, to restructure the shape and organization of nucleosome positioning to ultimately regulate gene expression. Of particular interest is the neuron-specific Brg1/hBrm Associated Factor (nBAF complex. Mutations in nBAF subunit genes have so far been linked to Coffin-Siris syndrome, Nicolaides-Baraitser syndrome, schizophrenia, and Autism Spectrum Disorder. Together, these human developmental and intellectual disability disorders are powerful examples of the impact of epigenetic modulation on gene expression. This review focuses on the new and emerging role of nucleosome remodeling in neurodevelopmental and intellectual disability disorders and whether nucleosome remodeling affects gene expression required for cognition independently of its role in regulating gene expression required for development.

  16. Understanding autism and other neurodevelopmental disorders through experimental translational neurobehavioral models

    NARCIS (Netherlands)

    Homberg, J.R.; Kyzar, E.J.; Nguyen, M; Norton, W.H.; Pittman, J.; Poudel, M.K.; Gaikwad, S.; Nakamura, S.; Koshiba, M.; Yamanouchi, H.; Scattoni, M.L.; Ullman, J.F.; Diamond, D.M.; Kaluyeva, A.A.; Parker, M.O.; Klimenko, V.M.; Apryatin, S.A.; Brown, R.E.; Song, C.; Gainetdinov, R.R.; Gottesman, II; Kalueff, A.V.

    2016-01-01

    Neurodevelopmental disorders (NDDs) are highly prevalent and severely debilitating brain illnesses caused by aberrant brain growth and development. Resulting in cognitive, social, motor, language and affective disabilities, common NDDs include autism spectrum disorder (ASD), intellectual disability,

  17. Boys with Asperger Syndrome Grow Up: Psychiatric and Neurodevelopmental Disorders 20 Years After Initial Diagnosis.

    Science.gov (United States)

    Gillberg, I Carina; Helles, Adam; Billstedt, Eva; Gillberg, Christopher

    2016-01-01

    We examined comorbid psychiatric and neurodevelopmental disorders in fifty adult males (mean age 30 years) with Asperger syndrome (AS) diagnosed in childhood and followed up prospectively for almost two decades (13-26 years). Only three of the 50 men had never met criteria for an additional psychiatric/neurodevelopmental diagnosis and more than half had ongoing comorbidity (most commonly either ADHD or depression or both). Any psychiatric comorbidity increased the risk of poorer outcome. The minority of the AS group who no longer met criteria for a full diagnosis of an autism spectrum disorder were usually free of current psychiatric comorbidity. The high rate of psychiatric/neurodevelopmental comorbidities underscores the need for a full psychiatric/neurodevelopmental assessment at follow-up of males with AS.

  18. Rapamycin Prevents Seizures After Depletion of STRADA in a Rare Neurodevelopmental Disorder

    NARCIS (Netherlands)

    Parker, Whitney E.; Orlova, Ksenia A.; Parker, William H.; Birnbaum, Jacqueline F.; Krymskaya, Vera P.; Goncharov, Dmitry A.; Baybis, Marianna; Helfferich, Jelte; Okochi, Kei; Strauss, Kevin A.; Crino, Peter B.

    2013-01-01

    A rare neurodevelopmental disorder in the Old Order Mennonite population called PMSE (polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome; also called Pretzel syndrome) is characterized by infantile-onset epilepsy, neurocognitive delay, craniofacial dysmorphism, and histopathological

  19. Relationship between motor coordination, cognitive abilities, and academic achievement in Japanese children with neurodevelopmental disorders

    Directory of Open Access Journals (Sweden)

    Takuya Higashionna

    2017-12-01

    Conclusion: These findings stress that it is essential to accurately identify motor coordination impairments and the interventions that would consider motor coordination problems related to cognitive abilities and academic achievement in Japanese children with neurodevelopmental disorders.

  20. Prognosis and long-term neurodevelopmental outcome in conservatively treated twin-to-twin transfusion syndrome

    Directory of Open Access Journals (Sweden)

    Ochiai Masayuki

    2011-04-01

    Full Text Available Abstract Background Amnioreduction remains a treatment option for pregnancies with twin-to-twin transfusion syndrome (TTTS not meeting criteria for laser surgery or those in which it is not feasible. Amnioreduction is a relatively simple treatment which does not require sophisticated technical equipment. Previous reports of conservative management have indicated that major neurodevelopmental impairment occurs in 14.3-26% of survivors. The purpose of this study was to investigate long-term neurodevelopmental outcome in conservatively treated TTTS. Methods During the nine-year study period from January 1996 to December 2004, all pregnancies with TTTS who were admitted to our center were investigated. TTTS was diagnosed by using standard prenatal ultrasound criteria, and staged according to the criteria of Quintero et al. We reviewed gestational age at diagnosis, gestational age at delivery, the stage of TTTS at diagnosis, and diagnosis to delivery interval. Neonatal cranial ultrasound findings were reviewed and the neurodevelopmental outcomes were evaluated. Results Twenty-one pregnancies with TTTS were included. Thirteen pregnancies (62% were treated with serial amnioreduction. The mean gestational age at delivery was 28 weeks (22 - 34 weeks. The perinatal mortality rate was 42.9%. Twenty survivors were followed up until at least 3 years of age. The mean age at follow-up was 6.3 years (3 - 12 years. Six children (30% had neurodevelopmental impairment. Four children (20% had major neurodevelopmental impairment and two children (10% had minor neurodevelopmental impairment. Children with neurodevelopmental impairment were delivered before 29 weeks of gestation. Conclusions Our study showed a high rate of perinatal mortality and a high rate of major neurodevelopmental impairment in conservatively treated TTTS. The long-term outcomes for the survivors with TTTS were good when survivors were delivered after 29 weeks of gestation.

  1. The Neurodevelopmental Basis of Early Childhood Disruptive Behavior: Irritable and Callous Phenotypes as Exemplars.

    Science.gov (United States)

    Wakschlag, Lauren S; Perlman, Susan B; Blair, R James; Leibenluft, Ellen; Briggs-Gowan, Margaret J; Pine, Daniel S

    2017-11-17

    The arrival of the Journal's 175th anniversary occurs at a time of recent advances in research, providing an ideal opportunity to present a neurodevelopmental roadmap for understanding, preventing, and treating psychiatric disorders. Such a roadmap is particularly relevant for early-childhood-onset neurodevelopmental conditions, which emerge when experience-dependent neuroplasticity is at its peak. Employing a novel developmental specification approach, this review places recent neurodevelopmental research on early childhood disruptive behavior within the historical context of the Journal. The authors highlight irritability and callous behavior as two core exemplars of early disruptive behavior. Both phenotypes can be reliably differentiated from normative variation as early as the first years of life. Both link to discrete pathophysiology: irritability with disruptions in prefrontal regulation of emotion, and callous behavior with abnormal fear processing. Each phenotype also possesses clinical and predictive utility. Based on a nomologic net of evidence, the authors conclude that early disruptive behavior is neurodevelopmental in nature and should be reclassified as an early-childhood-onset neurodevelopmental condition in DSM-5. Rapid translation from neurodevelopmental discovery to clinical application has transformative potential for psychiatric approaches of the millennium.

  2. Molecular underpinnings of prefrontal cortex development in rodents provide insights into the etiology of neurodevelopmental disorders

    Science.gov (United States)

    Schubert, D; Martens, G J M; Kolk, S M

    2015-01-01

    The prefrontal cortex (PFC), seat of the highest-order cognitive functions, constitutes a conglomerate of highly specialized brain areas and has been implicated to have a role in the onset and installation of various neurodevelopmental disorders. The development of a properly functioning PFC is directed by transcription factors, guidance cues and other regulatory molecules and requires the intricate and temporal orchestration of a number of developmental processes. Disturbance or failure of any of these processes causing neurodevelopmental abnormalities within the PFC may contribute to several of the cognitive deficits seen in patients with neurodevelopmental disorders. In this review, we elaborate on the specific processes underlying prefrontal development, such as induction and patterning of the prefrontal area, proliferation, migration and axonal guidance of medial prefrontal progenitors, and their eventual efferent and afferent connections. We furthermore integrate for the first time the available knowledge from genome-wide studies that have revealed genes linked to neurodevelopmental disorders with experimental molecular evidence in rodents. The integrated data suggest that the pathogenic variants in the neurodevelopmental disorder-associated genes induce prefrontal cytoarchitectonical impairments. This enhances our understanding of the molecular mechanisms of prefrontal (mis)development underlying the four major neurodevelopmental disorders in humans, that is, intellectual disability, autism spectrum disorders, attention deficit hyperactivity disorder and schizophrenia, and may thus provide clues for the development of novel therapies. PMID:25450230

  3. Long-term neurodevelopmental outcomes of infants born late preterm: a systematic review

    Directory of Open Access Journals (Sweden)

    Tripathi T

    2015-11-01

    Full Text Available Tanya Tripathi,1 Stacey C Dusing2,3 1Rehabilitation and Movement Science Program, Department of Physical Therapy, 2Department of Physical Therapy, 3Department of Pediatrics, Children's Hospital of Richmond, Virginia Commonwealth University, Richmond, VA, USA Purpose: Late preterm (LPT births constitute a large proportion of the preterm births in the USA. Over the last few decades, there has been an increase in research focusing on the neurodevelopment of infants born LPT. The purpose of this research was to systematically review the long-term neurodevelopmental outcomes in LPT infants. Materials and methods: We identified studies by using PubMed, ERIC, CINAHL, and PsycINFO databases. The references of included papers were reviewed for additional papers that met the inclusion criteria. Included papers compared motor, cognitive, language development, or academic performance outcomes between individuals born LPT and a term control group assessed between 12 months and 18 years of age. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses standards for systematic reviews were utilized including a two-step, two-investigator review process. Results: Of the 4,720 studies found in the initial search, 20 studies met the inclusion criteria. Approximately 75% of the 16 studies that assessed cognitive outcomes reported cognitive delay in the LPT group when compared to their full-term counterparts. More than 50% of the seven studies that assessed motor outcomes suggested a delay in motor development in the LPT group in comparison to full-term. Fewer papers assessed academic performance and language in children born LPT; however, the majority identified borderline differences when LPT infants were compared to those born full-term. Conclusion: Evidence suggests that infants born LPT are at an increased risk of neurodevelopmental delay between 1 and 18 years of life when compared to those born at term. The delay is most evident in the cognitive

  4. PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.

    Science.gov (United States)

    Zollo, Massimo; Ahmed, Mustafa; Ferrucci, Veronica; Salpietro, Vincenzo; Asadzadeh, Fatemeh; Carotenuto, Marianeve; Maroofian, Reza; Al-Amri, Ahmed; Singh, Royana; Scognamiglio, Iolanda; Mojarrad, Majid; Musella, Luca; Duilio, Angela; Di Somma, Angela; Karaca, Ender; Rajab, Anna; Al-Khayat, Aisha; Mohan Mohapatra, Tribhuvan; Eslahi, Atieh; Ashrafzadeh, Farah; Rawlins, Lettie E; Prasad, Rajniti; Gupta, Rashmi; Kumari, Preeti; Srivastava, Mona; Cozzolino, Flora; Kumar Rai, Sunil; Monti, Maria; Harlalka, Gaurav V; Simpson, Michael A; Rich, Philip; Al-Salmi, Fatema; Patton, Michael A; Chioza, Barry A; Efthymiou, Stephanie; Granata, Francesca; Di Rosa, Gabriella; Wiethoff, Sarah; Borgione, Eugenia; Scuderi, Carmela; Mankad, Kshitij; Hanna, Michael G; Pucci, Piero; Houlden, Henry; Lupski, James R; Crosby, Andrew H; Baple, Emma L

    2017-04-01

    PRUNE is a member of the DHH (Asp-His-His) phosphoesterase protein superfamily of molecules important for cell motility, and implicated in cancer progression. Here we investigated multiple families from Oman, India, Iran and Italy with individuals affected by a new autosomal recessive neurodevelopmental and degenerative disorder in which the cardinal features include primary microcephaly and profound global developmental delay. Our genetic studies identified biallelic mutations of PRUNE1 as responsible. Our functional assays of disease-associated variant alleles revealed impaired microtubule polymerization, as well as cell migration and proliferation properties, of mutant PRUNE. Additionally, our studies also highlight a potential new role for PRUNE during microtubule polymerization, which is essential for the cytoskeletal rearrangements that occur during cellular division and proliferation. Together these studies define PRUNE as a molecule fundamental for normal human cortical development and define cellular and clinical consequences associated with PRUNE mutation. © The Author (2017). Published by Oxford University Press on behalf of the Guarantors of Brain.

  5. Influenza vaccination in children with neurologic or neurodevelopmental disorders.

    Science.gov (United States)

    Smith, Michael; Peacock, Georgina; Uyeki, Timothy M; Moore, Cynthia

    2015-05-11

    Children with neurologic or neurodevelopmental disorders (NNDDs) are at increased risk of complications from influenza. Although the Advisory Committee on Immunization Practices (ACIP) has recognized NNDDs as high-risk conditions for influenza complications since 2005, little is known about influenza vaccination practices in this population. CDC collaborated with Family Voices, a national advocacy group for children with special healthcare needs, to recruit parents of children with chronic medical conditions. Parents were surveyed about their knowledge, attitudes, and practices surrounding influenza vaccination. The primary outcome of interest was parental report of vaccination, or intent to vaccinate, at the time of survey participation. CDC also collaborated with the American Academy of Pediatrics to recruit primary care and specialty physicians who provide care for high-risk children, specifically those with neurologic conditions. The primary outcome was physician recognition of ACIP high-risk influenza conditions. 2138 surveys were completed by parents of children with high-risk conditions, including 1143 with at least one NNDD. Overall, 50% of children with an NNDD were vaccinated, or their parents planned to have them vaccinated against influenza. Among all 2138 children, in multivariable analysis, the presence of a respiratory condition and prior seasonal influenza vaccination was significantly associated with receipt or planned current season influenza vaccination, but the presence of an NNDD was not. 412 pediatricians completed the provider survey. Cerebral palsy was recognized as a high-risk influenza condition by 74% of physician respondents, but epilepsy (51%) and intellectual disability (46%) were less commonly identified. Our estimates of influenza vaccination in children with NNDDs are comparable to published reports of vaccination in healthy children, which continue to be suboptimal. Education of parents of children with NNDDs and healthcare

  6. Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.

    Science.gov (United States)

    Evers, Christina; Staufner, Christian; Granzow, Martin; Paramasivam, Nagarajan; Hinderhofer, Katrin; Kaufmann, Lilian; Fischer, Christine; Thiel, Christian; Opladen, Thomas; Kotzaeridou, Urania; Wiemann, Stefan; Schlesner, Matthias; Eils, Roland; Kölker, Stefan; Bartram, Claus R; Hoffmann, Georg F; Moog, Ute

    2017-08-01

    Whole exome sequencing (WES) is well established in research and is now being introduced into clinically indicated diagnostics (so-called clinical exomes). We evaluated the diagnostic yield and clinical implications of WES in 72 patients from 60 families with undiagnosed neurodevelopmental disorders (NDD), neurometabolic disorders, and dystonias. Pathogenic or likely pathogenic variants leading to a molecular diagnosis could be identified in 21 of the 60 families (overall 35%, in 36% of patients with NDD, in 43% of patients with neurometabolic disorders, in 25% of patients with dystonias). In one family two coexisting autosomal recessive diseases caused by homozygous pathogenic variants in two different genes were diagnosed. In another family, a homozygous frameshift variant in STRADA was found to cause a severe NDD with early onset epilepsy, brain anomalies, hypotonia, heart defect, nephrocalcinosis, macrocephaly and distinctive facies so far designated as PMSE (polyhydramnios, megalencephaly, symptomatic epilepsy) syndrome. In 7 of the 21 families with a molecular diagnosis the pathogenic variants were only identified by clinical follow-up, manual reevaluation of the literature, a change of filter setting, and/or reconsideration of inheritance pattern. Most importantly, clinical implications included management changes in 8 cases and impact on family planning in 20 families with a molecular diagnosis. This study shows that reevaluation and follow-up can improve the diagnostic rate and that WES results have important implications on medical management and family planning. Furthermore, we could confirm STRADA as a gene associated with syndromic ID but find it questionable if the current designation as PMSE depicts the most important clinical features. Copyright © 2017 Elsevier Inc. All rights reserved.

  7. Conceptualizing neurodevelopmental disorders through a mechanistic understanding of fragile X syndrome and Williams syndrome.

    Science.gov (United States)

    Fung, Lawrence K; Quintin, Eve-Marie; Haas, Brian W; Reiss, Allan L

    2012-04-01

    The overarching goal of this review is to compare and contrast the cognitive-behavioral features of fragile X syndrome (FraX) and Williams syndrome and to review the putative neural and molecular underpinnings of these features. Information is presented in a framework that provides guiding principles for conceptualizing gene-brain-behavior associations in neurodevelopmental disorders. Abnormalities, in particular cognitive-behavioral domains with similarities in underlying neurodevelopmental correlates, occur in both FraX and Williams syndrome including aberrant frontostriatal pathways leading to executive function deficits, and magnocellular/dorsal visual stream, superior parietal lobe, inferior parietal lobe, and postcentral gyrus abnormalities contributing to deficits in visuospatial function. Compelling cognitive-behavioral and neurodevelopmental contrasts also exist in these two disorders, for example, aberrant amygdala and fusiform cortex structure and function occurring in the context of contrasting social behavioral phenotypes, and temporal cortical and cerebellar abnormalities potentially underlying differences in language function. Abnormal dendritic development is a shared neurodevelopmental morphologic feature between FraX and Williams syndrome. Commonalities in molecular machinery and processes across FraX and Williams syndrome occur as well - microRNAs involved in translational regulation of major synaptic proteins; scaffolding proteins in excitatory synapses; and proteins involved in axonal development. Although the genetic variations leading to FraX and Williams syndrome are different, important similarities and contrasts in the phenotype, neurocircuitry, molecular machinery, and cellular processes in these two disorders allow for a unique approach to conceptualizing gene-brain-behavior links occurring in neurodevelopmental disorders.

  8. Neurodevelopmental disorders in children born to mothers with systemic lupus erythematosus.

    Science.gov (United States)

    Vinet, É; Pineau, C A; Clarke, A E; Fombonne, É; Platt, R W; Bernatsky, S

    2014-10-01

    Children born to women with systemic lupus erythematosus seem to have a potentially increased risk of neurodevelopmental disorders compared to children born to healthy women. Recent experimental data suggest in utero exposure to maternal antibodies and cytokines as important risk factors for neurodevelopmental disorders. Interestingly, women with systemic lupus erythematosus display high levels of autoantibodies and cytokines, which have been shown, in animal models, to alter fetal brain development and induce behavioral anomalies in offspring. Furthermore, subjects with systemic lupus erythematosus and neurodevelopmental disorders share a common genetic predisposition, which could impair the fetal immune response to in utero immunologic insults. Moreover, systemic lupus erythematosus pregnancies are at increased risk of adverse obstetrical outcomes and medication exposures, which have been implicated as potential risk factors for neurodevelopmental disorders. In this article, we review the current state of knowledge on neurodevelopmental disorders and their potential determinants in systemic lupus erythematosus offspring. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

  9. The predictive validity of neonatal MRI for neurodevelopmental outcome in very preterm children.

    Science.gov (United States)

    Anderson, Peter J; Cheong, Jeanie L Y; Thompson, Deanne K

    2015-03-01

    Very preterm children are at a high risk for neurodevelopmental impairments, but there is variability in the pattern and severity of outcome. Neonatal magnetic resonance imaging (MRI) enhances the capacity to detect brain injury and altered brain development and assists in the prediction of high-risk children who warrant surveillance and early intervention. This review describes the application of conventional and advanced MRI with very preterm neonates, specifically focusing on the relationship between neonatal MRI findings and later neurodevelopmental outcome. Research demonstrates that conventional MRI is strongly associated with neurodevelopmental outcome in childhood. Further studies are needed to examine the role of advanced MRI techniques in predicting outcome in very preterm children, but early research findings are promising. In conclusion, neonatal MRI is predictive of later neurodevelopment but is dependent on appropriately trained specialists and should be interpreted in conjunction with other clinical and social information. Copyright © 2015 Elsevier Inc. All rights reserved.

  10. Two-year neurodevelopmental outcomes of ventilated preterm infants treated with inhaled nitric oxide.

    Science.gov (United States)

    Walsh, Michele C; Hibbs, Anna Maria; Martin, Camilia R; Cnaan, Avital; Keller, Roberta L; Vittinghoff, Eric; Martin, Richard J; Truog, William E; Ballard, Philip L; Zadell, Arlene; Wadlinger, Sandra R; Coburn, Christine E; Ballard, Roberta A

    2010-04-01

    In a randomized multi-center trial, we demonstrated that inhaled nitric oxide begun between 7 and 21 days and given for 24 days significantly increased survival without bronchopulmonary dysplasia (BPD) in ventilated premature infants weighing score <70 on the Bayley Scales II), compared with 114 of 234 (49%) in the placebo group (relative risk, 0.92; 95% CI, 0.75-1.12; P = .39). No differences on any subcomponent of neurodevelopmental impairment or growth variables were found between inhaled nitric oxide or placebo. Inhaled nitric oxide improved survival free of BPD, with no adverse neurodevelopmental effects at 2 years of age. Copyright 2010 Mosby, Inc. All rights reserved.

  11. Boys with Asperger Syndrome Grow Up: Psychiatric and Neurodevelopmental Disorders 20 Years after Initial Diagnosis

    Science.gov (United States)

    Gillberg, I. Carina; Helles, Adam; Billstedt, Eva; Gillberg, Christopher

    2016-01-01

    We examined comorbid psychiatric and neurodevelopmental disorders in fifty adult males (mean age 30 years) with Asperger syndrome (AS) diagnosed in childhood and followed up prospectively for almost two decades (13-26 years). Only three of the 50 men had "never" met criteria for an additional psychiatric/neurodevelopmental diagnosis and…

  12. Neurodevelopmental and neurobehavioural effects of polybrominated and perfluorinated chemicals: a systematic review of the epidemiological literature using a quality assessment scheme.

    Science.gov (United States)

    Roth, N; Wilks, M F

    2014-10-15

    Concerns over effects of halogenated persistent environmental contaminants on the developing brain have been expressed for many years, and human biomonitoring has confirmed that low-level, prenatal and/or postnatal exposure of children to these chemicals is ubiquitous. Over the last decade there have been increasing reports in the epidemiological literature of the potential association of exposure to polybromo diphenylethers (PBDEs) and perfluorinated chemicals (PFCs) with neurodevelopmental and/or neurobehavioural effects in infants and children, such as adverse birth outcomes, cognitive deficits, developmental delay and attention deficit hyperactivity disorders (ADHD). However, direct evidence from epidemiology studies has been limited and contradictory. Given the general lack of comparability across studies in terms of design, conduct, methodology and reporting, we developed a checklist-type quality assessment scheme based on the STROBE guidelines and the proposed HONEES criteria, and conducted a systematic review of the epidemiological peer-reviewed literature published since 2006 on neurodevelopmental and/or neurobehavioural effects following prenatal and postnatal exposure to PBDEs and PFCs. We rated 7 of the 18 studies that met our inclusion criteria as being of high quality, 7 of moderate quality and 4 of low quality. Frequently observed shortcomings were the lack of consideration of confounding factors; uncertainties regarding exposure characterization; inadequate sample size; the lack of a clear dose-response; and the representativeness/generalizability of the results. Collectively, the epidemiological evidence does currently not support a strong causal association between PBDEs and PFCs and adverse neurodevelopmental and neurobehavioural outcomes in infants and children. However, despite their limitations, the studies raise questions that require further investigation through hypothesis-driven studies using more harmonized study designs and methodologies

  13. Assessing quality of nursing care as a confounding variable in an outcome study on Neurodevelopmental treatment

    NARCIS (Netherlands)

    L. van der Weide; M.H.F. Grypdonck; Dr. T.B. Hafsteinsdóttir; K. Strijker; C. Kruitwagen

    2007-01-01

    When planning a study measuring the effects of a neurodevelopmental treatment (NDT), we were confronted with the methodological problem that while measuring the effects of NDT, a rival hypothesis is that the decision to implement the NDT might be related to the quality of nursing care. Therefore, we

  14. Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

    DEFF Research Database (Denmark)

    Talkowski, Michael E.; Rosenfeld, Jill A.; Blumenthal, Ian

    2012-01-01

    Sequencing of balanced chromosomal abnormalities, combined with convergent genomic studies of gene expression, copy-number variation, and genome-wide association, identifies 22 new loci that contribute to autism and related neurodevelopmental disorders. These data support a polygenic risk model f...

  15. Child neurodevelopmental outcomes following preterm and term birth: What can the placenta tell us?

    Science.gov (United States)

    Hodyl, Nicolette A; Aboustate, Natalie; Bianco-Miotto, Tina; Roberts, Claire T; Clifton, Vicki L; Stark, Michael J

    2017-09-01

    A significant proportion of children born preterm will experience some level of neurodevelopmental impairment. Changes in placental function have been observed with many antenatal conditions that are risk factors for preterm birth and/or poor neurodevelopment including fetal growth restriction and in-utero inflammation. This review will highlight placental factors that have been studied to understand the underlying mechanisms and identify biomarkers that lead to poor child neurodevelopmental outcomes. These include changes in gross morphological and histopathological structure and the placental inflammatory response to prenatal infection. Further, we will describe the placenta's role as both a barrier to maternally-derived bioactive substances critical for normal fetal brain development, such as cortisol, and a source of neuroactive steroids and neurotrophins known to have critical functions in neuronal proliferation, axonal growth, myelination and the regulation of apoptosis. Finally, emerging data supporting the potential utility of novel placental biomarkers in the early prediction of poor neurodevelopmental outcome in infants born both preterm and term will be discussed. These include the assessment of genetic variants (e.g. single nucleotide polymorphisms in placental tissue) and epigenetic biomarkers (e.g. placental microRNAs and placental DNA methylation). With the placenta the key tissue regulating the fetal environment, integration of observed changes in placental function with genetic and epigenetic variations may advance our ability to predict future infant health. Ultimately, this may facilitate targeted allocation of health resources with the aim of improving lifelong neurodevelopmental capability. Copyright © 2017 Elsevier Ltd. All rights reserved.

  16. Neurodevelopmental Status and Adaptive Behaviors in Preschool Children with Chronic Kidney Disease

    Science.gov (United States)

    Duquette, Peter J.; Hooper, Stephen R.; Icard, Phil F.; Hower, Sarah J.; Mamak, Eva G.; Wetherington, Crista E.; Gipson, Debbie S.

    2009-01-01

    This study examines the early neurodevelopmental function of infants and preschool children who have chronic kidney disease (CKD). Fifteen patients with CKD are compared to a healthy control group using the "Mullen Scales of Early Learning" (MSEL) and the "Vineland Adaptive Behavior Scale" (VABS). Multivariate analysis reveals…

  17. Severe influenza among children and young adults with neurologic and neurodevelopmental conditions - Ohio, 2011.

    Science.gov (United States)

    2012-01-06

    Children with neurologic and neurodevelopmental conditions are at increased risk for severe outcomes from influenza, including death. In April 2011, the Ohio Department of Health and CDC investigated an influenza outbreak that began in February 2011 in a residential facility for 130 children and young adults with neurologic and neurodevelopmental conditions. This report summarizes the characteristics and clinical courses of 13 severely ill residents with suspected or confirmed influenza; 10 were hospitalized, and seven died. Diagnosis is challenging in this population, and clinicians should consider influenza in patients with neurologic and neurodevelopmental conditions who have respiratory illness or a decline in baseline medical status when influenza is circulating in the community. Prompt testing, early and aggressive antiviral treatment, and antiviral chemoprophylaxis are important for these patients. When influenza is suspected, antiviral treatment should be given as soon as possible after symptom onset, ideally within 48 hours. Treatment should not wait for laboratory confirmation of influenza. During outbreaks, antiviral chemoprophylaxis should be provided to all residents of institutional facilities (e.g., nursing homes and long-term- care facilities), regardless of vaccination status. Residential facilities for patients with neurologic and neurodevelopmental conditions are encouraged to vaccinate all eligible residents and staff members against influenza.

  18. No association between transient hypothyroxinaemia of prematurity and neurodevelopmental outcome in young adulthood

    NARCIS (Netherlands)

    Hollanders, J.J.; Israëls, J.; Pal, S.M. van der; Verkerk, P.H.; Rotteveel, J.; Finken, M.J.J.; Hille, E.T.M.; Groot, C.H. de; Kloosterboer-Boerrigter, H.; Ouden, A.L. den; Rijpstra, A.; Verloove-Vanhorick, S.P.; Vogelaar, J.A.; Kok, J.H.; Ilsen, A.; Lans, M. van der; Boelen-Van Der Loo, W.J.C.; Lundqvist, T.; Heymans, H.S.A.; Duiverman, E.J.; Geven, W.B.; Duiverman, M.L.; Geven, L.I.; Vrijlandt, E.J.L.E.; Mulder, A.L.M.; Gerver, A.; Kollée, L.A.A.; Reijmers, L.; Sonnemans, R.; Wit, J.M.; Dekker, F.W.; Weisglas-Kuperus, N.; Heijden, A.J. van der; Goudoever, J.B. van; Weissenbruch, M.M. van; Cranendonk, A.; Delemarre-Van De Waal, H.A.; Groot, L. de; Samsom, J.F.; Vries, L.S. de; Rademaker, K.J.; Moerman, E.; Voogsgeerd, M.; Kleine, M.J.K. de; Andriessen, P.; Dielissen-Van Helvoirt, C.C.M.; Mohamed, I.; Straaten, H.L.M. van; Baerts, W.; Veneklaas Slots-Kloosterboer, G.W.; Tuller-Pikkemaat, E.M.J.; Ens-Dokkum, M.H.; Steenbrugge, G.J. van

    2015-01-01

    Context: Transient hypothyroxinaemia of prematurity (THoP) has been associated with neurodevelopmental impairment in infancy and childhood. It is not known whether these relations persist into adulthood. Objective: To examine whether there is an effect of THoP on intelligence quotient (IQ) score and

  19. Brain Injury and Neurodevelopmental Outcome in Congenital Heart Disease : A Systematic Review

    NARCIS (Netherlands)

    Mebius, Mirthe J.; Kool, Elisabeth M. W.; Bilardo, Catherina M.; Bos, Arend F.

    2017-01-01

    CONTEXT: Brain injury during prenatal and preoperative postnatal life might play a major role in neurodevelopmental impairment in infants with congenital heart disease (CIID) who require corrective or palliative surgery during infancy. A systematic review of cerebral findings during this period in

  20. Brain Injury and Neurodevelopmental Outcome in Congenital Heart Disease: A Systematic Review.

    Science.gov (United States)

    Mebius, Mirthe J; Kooi, Elisabeth M W; Bilardo, Catherina M; Bos, Arend F

    2017-07-01

    Brain injury during prenatal and preoperative postnatal life might play a major role in neurodevelopmental impairment in infants with congenital heart disease (CHD) who require corrective or palliative surgery during infancy. A systematic review of cerebral findings during this period in relation to neurodevelopmental outcome (NDO), however, is lacking. To assess the association between prenatal and postnatal preoperative cerebral findings and NDO in infants with CHD who require corrective or palliative surgery during infancy. PubMed, Embase, reference lists. We conducted 3 different searches for English literature between 2000 and 2016; 1 for prenatal cerebral findings, 1 for postnatal preoperative cerebral findings, and 1 for the association between brain injury and NDO. Two reviewers independently screened sources and extracted data on cerebral findings and neurodevelopmental outcome. Quality of studies was assessed using the Newcastle-Ottawa Quality Assessment Scale. Abnormal cerebral findings are common during the prenatal and postnatal preoperative periods. Prenatally, a delay of cerebral development was most common; postnatally, white matter injury, periventricular leukomalacia, and stroke were frequently observed. Abnormal Doppler measurements, brain immaturity, cerebral oxygenation, and abnormal EEG or amplitude-integrated EEG were all associated with NDO. Observational studies, different types of CHD with different pathophysiological effects, and different reference values. Prenatal and postnatal preoperative abnormal cerebral findings might play an important role in neurodevelopmental impairment in infants with CHD. Increased awareness of the vulnerability of the young developing brain of an infant with CHD among caregivers is essential. Copyright © 2017 by the American Academy of Pediatrics.

  1. Neurodevelopmental Disorders in Children with Severe to Profound Sensorineural Hearing Loss: A Clinical Study

    Science.gov (United States)

    Chilosi, Anna M.; Comparini, Alessandro; Scusa, Maria F.; Berrettini, Stefano; Forli, Francesca; Battini, Roberta; Cipriani, Paola; Cioni, Giovanni

    2010-01-01

    Aim: The effects of sensorineural hearing loss (SNHL) are often complicated by additional disabilities, but the epidemiology of associated disorders is not clearly defined. The aim of this study was to evaluate the frequency and type of additional neurodevelopmental disabilities in a sample of children with SNHL and to investigate the relation…

  2. Neurodevelopmental Outcomes in Very Low Birth Weight Infants Using Aminophylline for the Treatment of Apnea

    Directory of Open Access Journals (Sweden)

    Shu-Leei Tey

    2016-02-01

    Conclusion: Aminophylline therapy for apnea of prematurity had no apparent and additional risk on the neurodevelopmental outcomes of VLBW infants at a corrected age of 18 months. Further studies with a larger sample size are needed to confirm the adverse neurological effects of aminophylline treatment.

  3. Lessons Learned: Engaging Culturally Diverse Families in Neurodevelopmental Disorders Intervention Research

    Science.gov (United States)

    Ratto, Allison B.; Anthony, Bruno J.; Pugliese, Cara; Mendez, Rocio; Safer-Lichtenstein, Jonathan; Dudley, Katerina M.; Kahn, Nicole F.; Kenworthy, Lauren; Biel, Matthew; Martucci, Jillian L.; Anthony, Laura G.

    2017-01-01

    Low-income and ethnic minority families continue to face critical disparities in access to diagnostic and treatment services for neurodevelopmental conditions, such as autism spectrum disorder and attention deficit hyperactivity disorder. Despite the growing cultural diversity of the United States, ethnic minority children and families continue to…

  4. Neurobiological Circuits Regulating Attention, Cognitive Control, Motivation, and Emotion: Disruptions in Neurodevelopmental Psychiatric Disorders

    Science.gov (United States)

    Arnsten, Amy F. T.; Rubia, Katya

    2012-01-01

    Objective: This article aims to review basic and clinical studies outlining the roles of prefrontal cortical (PFC) networks in the behavior and cognitive functions that are compromised in childhood neurodevelopmental disorders and how these map into the neuroimaging evidence of circuit abnormalities in these disorders. Method: Studies of animals,…

  5. Communication Intervention for Young Children with Severe Neurodevelopmental Disabilities via Telehealth

    Science.gov (United States)

    Simacek, Jessica; Dimian, Adele F.; McComas, Jennifer J.

    2017-01-01

    Young children with neurodevelopmental disorders such as autism spectrum disorders (ASD) and Rett syndrome often experience severe communication impairments. This study examined the efficacy of parent-implemented communication assessment and intervention with remote coaching via telehealth on the acquisition of early communication skills of three…

  6. LGBT Caregiver Concerns

    Science.gov (United States)

    LGBT CAREGIVER CONCERNS IMPORTANT CONSIDERATIONS FOR LGBT CAREGIVERS LGBT CAREGIVER CONSIDERATIONS As a caregiver for someone with Alzheimer’s disease, you will face various challenges. Some are common among all ...

  7. Hydrologic Areas of Concern

    Data.gov (United States)

    University of New Hampshire — A Hydrologic Area of Concern (HAC) is a land area surrounding a water source, which is intended to include the portion of the watershed in which land uses are likely...

  8. Empathic concern drives costly altruism.

    Science.gov (United States)

    FeldmanHall, Oriel; Dalgleish, Tim; Evans, Davy; Mobbs, Dean

    2015-01-15

    Why do we self-sacrifice to help others in distress? Two competing theories have emerged, one suggesting that prosocial behavior is primarily motivated by feelings of empathic other-oriented concern, the other that we help mainly because we are egoistically focused on reducing our own discomfort. Here we explore the relationship between costly altruism and these two sub-processes of empathy, specifically drawing on the caregiving model to test the theory that trait empathic concern (e.g. general tendency to have sympathy for another) and trait personal distress (e.g. predisposition to experiencing aversive arousal states) may differentially drive altruistic behavior. We find that trait empathic concern--and not trait personal distress--motivates costly altruism, and this relationship is supported by activity in the ventral tegmental area, caudate and subgenual anterior cingulate, key regions for promoting social attachment and caregiving. Together, this data helps identify the behavioral and neural mechanisms motivating costly altruism, while demonstrating that individual differences in empathic concern-related brain responses can predict real prosocial choice. Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.

  9. Empathic concern drives costly altruism

    Science.gov (United States)

    FeldmanHall, Oriel; Dalgleish, Tim; Evans, Davy; Mobbs, Dean

    2015-01-01

    Why do we self-sacrifice to help others in distress? Two competing theories have emerged, one suggesting that prosocial behavior is primarily motivated by feelings of empathic other-oriented concern, the other that we help mainly because we are egoistically focused on reducing our own discomfort. Here we explore the relationship between costly altruism and these two sub-processes of empathy, specifically drawing on the caregiving model to test the theory that trait empathic concern (e.g. general tendency to have sympathy for another) and trait personal distress (e.g. predisposition to experiencing aversive arousal states) may differentially drive altruistic behavior. We find that trait empathic concern – and not trait personal distress – motivates costly altruism, and this relationship is supported by activity in the ventral tegmental area, caudate and subgenual anterior cingulate, key regions for promoting social attachment and caregiving. Together, this data helps identify the behavioral and neural mechanisms motivating costly altruism, while demonstrating that individual differences in empathic concern-related brain responses can predict real prosocial choice. PMID:25462694

  10. Neurodevelopmental functioning in children with FAS, pFAS, and ARND.

    Science.gov (United States)

    Chasnoff, Ira J; Wells, Anne M; Telford, Erin; Schmidt, Christine; Messer, Gwendolyn

    2010-04-01

    The purpose of this article is to compare the neurodevelopmental profiles of 78 foster and adopted children with fetal alcohol syndrome (FAS), partial FAS (pFAS), or alcohol-related neurodevelopmental disorder (ARND). Seventy-eight foster and adopted children underwent a comprehensive diagnostic evaluation. By using criteria more stringent than those required by current guidelines, the children were placed in 1 of 3 diagnostic categories: FAS, pFAS, or ARND. Each child was evaluated across the domains of neuropsychological functioning most frequently affected by prenatal exposure to alcohol. Multivariate analyses of variance were conducted to examine differences in neuropsychological functioning between the 3 diagnostic groups. Descriptive discriminant analyses were performed in follow-up to the multivariate analyses of variance. The children in the 3 diagnostic categories were similar for descriptive and child welfare variables. Children with FAS had significantly decreased mean weight, height, and head circumference. Children with FAS exhibited the most impaired level of general intelligence, significantly worse language-based memory compared with children with ARND, and significantly poorer functional communication skills than children with pFAS. On executive functioning, the FAS group of children performed significantly worse on sequencing and shift than either the pFAS or ARND groups. Children with pFAS and ARND were similar in all neurodevelopmental domains that were tested. The children who met tightly defined physical criteria for a diagnosis of FAS demonstrated significantly poorer neurodevelopmental functioning than children with pFAS and ARND. Children in these latter 2 groups were similar in all neurodevelopmental domains that were tested.

  11. Pesticide Exposure and Neurodevelopmental Outcomes: Review of the Epidemiologic and Animal Studies

    Science.gov (United States)

    Burns, Carol J.; McIntosh, Laura J.; Mink, Pamela J.; Jurek, Anne M.; Li, Abby A.

    2013-01-01

    Assessment of whether pesticide exposure is associated with neurodevelopmental outcomes in children can best be addressed with a systematic review of both the human and animal peer-reviewed literature. This review analyzed epidemiologic studies testing the hypothesis that exposure to pesticides during pregnancy and/or early childhood is associated with neurodevelopmental outcomes in children. Studies that directly queried pesticide exposure (e.g., via questionnaire or interview) or measured pesticide or metabolite levels in biological specimens from study participants (e.g., blood, urine, etc.) or their immediate environment (e.g., personal air monitoring, home dust samples, etc.) were eligible for inclusion. Consistency, strength of association, and dose response were key elements of the framework utilized for evaluating epidemiologic studies. As a whole, the epidemiologic studies did not strongly implicate any particular pesticide as being causally related to adverse neurodevelopmental outcomes in infants and children. A few associations were unique for a health outcome and specific pesticide, and alternative hypotheses could not be ruled out. Our survey of the in vivo peer-reviewed published mammalian literature focused on effects of the specific active ingredient of pesticides on functional neurodevelopmental endpoints (i.e., behavior, neuropharmacology and neuropathology). In most cases, effects were noted at dose levels within the same order of magnitude or higher compared to the point of departure used for chronic risk assessments in the United States. Thus, although the published animal studies may have characterized potential neurodevelopmental outcomes using endpoints not required by guideline studies, the effects were generally observed at or above effect levels measured in repeated-dose toxicology studies submitted to the U.S. Environmental Protection Agency (EPA). Suggestions for improved exposure assessment in epidemiology studies and more effective

  12. Telephone interviews and online questionnaires can be used to improve neurodevelopmental follow-up rates.

    Science.gov (United States)

    Johnson, Samantha; Seaton, Sarah E; Manktelow, Bradley N; Smith, Lucy K; Field, David; Draper, Elizabeth S; Marlow, Neil; Boyle, Elaine M

    2014-04-08

    Maximising response rates to neurodevelopmental follow-up is a key challenge for paediatric researchers. We have investigated the use of telephone interviews and online questionnaires to improve response rates, reduce non-response bias, maintain data completeness and produce unbiased outcomes compared with postal questionnaires when assessing neurodevelopmental outcomes at 2 years. A prospective cohort study of babies born ≥32 weeks gestation. Neurodevelopmental outcomes were assessed at 2 years of age using a parent questionnaire completed via post, telephone or online. Relative Risks with 95% confidence intervals (RR; 95% CI) were calculated to identify participant characteristics associated with non-response and questionnaire response mode (postal vs. telephone/online). The proportion of missing data and prevalence of adverse outcomes was compared between response modes using generalized linear models. Offering telephone/online questionnaires increased the study response rate from 55% to 60%. Telephone/online responders were more likely to be non-white (RR 1.6; [95% CI 1.1, 2.4]), non-English speaking (1.6; [1.0, 2.6]) or have a multiple birth (1.6; [1.1, 2.3]) than postal responders. There were no significant differences in the prevalence of adverse neurodevelopmental outcomes between those who responded via post vs. telephone/online (1.1; [0.9, 1.4]). Where parents attempted all questionnaire sections, there were no significant differences in the proportion of missing data between response modes. Where there is sufficient technology and resources, offering telephone interviews and online questionnaires can enhance response rates and improve sample representation to neurodevelopmental follow-up, whilst maintaining data completeness and unbiased outcomes.

  13. Automated electroencephalographic discontinuity in cooled newborns predicts cerebral MRI and neurodevelopmental outcome.

    Science.gov (United States)

    Dunne, Jonathan M; Wertheim, David; Clarke, Paul; Kapellou, Olga; Chisholm, Philippa; Boardman, James P; Shah, Divyen K

    2017-01-01

    Prolonged electroencephalographic (EEG) discontinuity has been associated with poor neurodevelopmental outcomes after perinatal asphyxia but its predictive value in the era of therapeutic hypothermia (TH) is unknown. In infants undergoing TH for hypoxic-ischaemic encephalopathy (HIE) prolonged EEG discontinuity is associated with cerebral tissue injury on MRI and adverse neurodevelopmental outcome. Retrospective study of term neonates from three UK centres who received TH for perinatal asphyxia, had continuous two channel amplitude-integrated EEG with EEG for a minimum of 48 h, brain MRI within 6 weeks of birth and neurodevelopmental outcome data at a median age of 24 months. Mean discontinuity was calculated using a novel automated algorithm designed for analysis of the raw EEG signal. Of 49 eligible infants, 17 (35%) had MR images predictive of death or severe neurodisability (unfavourable outcome) and 29 (59%) infants had electrographic seizures. In multivariable logistic regression, mean discontinuity at 24 h and 48 h (both p=0.01), and high seizure burden (p=0.05) were associated with severe cerebral tissue injury on MRI. A mean discontinuity >30 s/min-long epoch, had a specificity and positive predictive value of 100%, sensitivity of 71% and a negative predictive value of 88% for unfavourable neurodevelopmental outcome at a 10 µV threshold. In addition to seizure burden, excessive EEG discontinuity is associated with increased cerebral tissue injury on MRI and is predictive of abnormal neurodevelopmental outcome in infants treated with TH. The high positive predictive value of EEG discontinuity at 24 h may be valuable in selecting newborns with HIE for adjunctive treatments. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  14. Pesticide exposure and neurodevelopmental outcomes: review of the epidemiologic and animal studies.

    Science.gov (United States)

    Burns, Carol J; McIntosh, Laura J; Mink, Pamela J; Jurek, Anne M; Li, Abby A

    2013-01-01

    Assessment of whether pesticide exposure is associated with neurodevelopmental outcomes in children can best be addressed with a systematic review of both the human and animal peer-reviewed literature. This review analyzed epidemiologic studies testing the hypothesis that exposure to pesticides during pregnancy and/or early childhood is associated with neurodevelopmental outcomes in children. Studies that directly queried pesticide exposure (e.g., via questionnaire or interview) or measured pesticide or metabolite levels in biological specimens from study participants (e.g., blood, urine, etc.) or their immediate environment (e.g., personal air monitoring, home dust samples, etc.) were eligible for inclusion. Consistency, strength of association, and dose response were key elements of the framework utilized for evaluating epidemiologic studies. As a whole, the epidemiologic studies did not strongly implicate any particular pesticide as being causally related to adverse neurodevelopmental outcomes in infants and children. A few associations were unique for a health outcome and specific pesticide, and alternative hypotheses could not be ruled out. Our survey of the in vivo peer-reviewed published mammalian literature focused on effects of the specific active ingredient of pesticides on functional neurodevelopmental endpoints (i.e., behavior, neuropharmacology and neuropathology). In most cases, effects were noted at dose levels within the same order of magnitude or higher compared to the point of departure used for chronic risk assessments in the United States. Thus, although the published animal studies may have characterized potential neurodevelopmental outcomes using endpoints not required by guideline studies, the effects were generally observed at or above effect levels measured in repeated-dose toxicology studies submitted to the U.S. Environmental Protection Agency (EPA). Suggestions for improved exposure assessment in epidemiology studies and more effective

  15. Neurodevelopmental effects in children associated with exposure to organophosphate pesticides: A systematic review

    Science.gov (United States)

    Muñoz-Quezada, María Teresa; Lucero, Boris A.; Barr, Dana B.; Steenland, Kyle; Levy, Karen; Ryan, P. Barry; Iglesias, Veronica; Alvarado, Sergio; Concha, Carlos; Rojas, Evelyn; Vega, Catalina

    2013-01-01

    Many studies have investigated the neurodevelopmental effects of prenatal and early childhood exposures to organophosphate (OP) pesticides among children, but they have not been collectively evaluated. The aim of the present article is to synthesize reported evidence over the last decade on OP exposure and neurodevelopmental effects in children. The Data Sources were PubMed, Web of Science, EBSCO, SciVerse Scopus, SpringerLink, SciELO and DOAJ. The eligibility criteria considered were studies assessing exposure to OP pesticides and neurodevelopmental effects in children from birth to 18 years of age, published between 2002 and 2012 in English or Spanish. Twenty-seven articles met the eligibility criteria. Studies were rated for evidential consideration as high, intermediate, or low based upon the study design, number of participants, exposure measurement, and neurodevelopmental measures. All but one of the 27 studies evaluated showed some negative effects of pesticides on neurobehavioral development. A positive dose–response relationship between OP exposure and neurodevelopmental outcomes was found in all but one of the 12 studies that assessed dose–response. In the ten longitudinal studies that assessed prenatal exposure to OPs, cognitive deficits (related to working memory) were found in children at age 7 years, behavioral deficits (related to attention) seen mainly in toddlers, and motor deficits (abnormal reflexes) seen mainly in neonates. No meta-analysis was possible due to different measurements of exposure assessment and outcomes. Eleven studies (all longitudinal) were rated high, 14 studies were rated intermediate, and two studies were rated low. Evidence of neurological deficits associated with exposure to OP pesticides in children is growing. The studies reviewed collectively support the hypothesis that exposure to OP pesticides induces neurotoxic effects. Further research is needed to understand effects associated with exposure in critical windows

  16. Fairness and nanotechnology concern.

    Science.gov (United States)

    McComas, Katherine A; Besley, John C

    2011-11-01

    Research suggests that fairness perceptions matter to people who are asked to evaluate the acceptability of risks or risk management. Two separate national random surveys (n = 305 and n = 529) addressed Americans' concerns about and acceptance of nanotechnology risk management in the context of the degree to which they view scientists and risk managers as fair. The first survey investigated general views about scientists across four proposed dimensions of fairness (distributional, procedural, interpersonal, and informational). The results show that respondents who believe that the outcomes of scientific research tend to result in unequal benefits (distributional fairness) and that the procedures meant to protect the public from scientific research are biased (procedural fairness) were more concerned about nanotechnology. Believing scientists would treat them with respect (interpersonal fairness) and ensure access to information (informational fairness) were not significant predictors of concern. The second study also looked at these four dimensions of fairness but focused on perceptions of risk managers working for government, universities, and major companies. In addition to concern, it also examined acceptance of nanotechnology risk management. Study 2 results were similar to those of study 1 for concern; however, only perceived informational fairness consistently predicted acceptance of nanotechnology risk management. Overall, the study points to the value of considering fairness perceptions in the study of public perceptions of nanotechnology. © 2011 Society for Risk Analysis.

  17. Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene

    Science.gov (United States)

    Fountain, Michael D.; Schaaf, Christian P.

    2016-01-01

    Prader-Willi syndrome (PWS) is a neurodevelopmental disorder characterized by neonatal hypotonia, developmental delay/intellectual disability, and characteristic feeding behaviors with failure to thrive during infancy; followed by hyperphagia and excessive weight gain later in childhood. Individuals with PWS also manifest complex behavioral phenotypes. Approximately 25% meet criteria for autism spectrum disorder (ASD). PWS is caused by the absence of paternally expressed, maternally silenced genes at chromosome 15q11-q13. MAGEL2 is one of five protein-coding genes in the PWS-critical domain. Truncating point mutations of the paternal allele of MAGEL2 cause Schaaf-Yang syndrome, which has significant phenotypic overlap with PWS, but is also clinically distinct; based on the presence of joint contractures, and a particularly high prevalence of autism spectrum disorder (up to 75% of affected individuals). The clinical and molecular overlap between PWS and Schaaf-Yang syndrome, but also their distinguishing features provide insight into the pathogenetic mechanisms underlying both disorders. PMID:28933382

  18. Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene

    Directory of Open Access Journals (Sweden)

    Michael D. Fountain

    2016-01-01

    Full Text Available Prader-Willi syndrome (PWS is a neurodevelopmental disorder characterized by neonatal hypotonia, developmental delay/intellectual disability, and characteristic feeding behaviors with failure to thrive during infancy; followed by hyperphagia and excessive weight gain later in childhood. Individuals with PWS also manifest complex behavioral phenotypes. Approximately 25% meet criteria for autism spectrum disorder (ASD. PWS is caused by the absence of paternally expressed, maternally silenced genes at chromosome 15q11-q13. MAGEL2 is one of five protein-coding genes in the PWS-critical domain. Truncating point mutations of the paternal allele of MAGEL2 cause Schaaf-Yang syndrome, which has significant phenotypic overlap with PWS, but is also clinically distinct; based on the presence of joint contractures, and a particularly high prevalence of autism spectrum disorder (up to 75% of affected individuals. The clinical and molecular overlap between PWS and Schaaf-Yang syndrome, but also their distinguishing features provide insight into the pathogenetic mechanisms underlying both disorders.

  19. Blood and Hair Mercury Concentrations in the Pacific Harbor Seal (Phoca vitulina richardii) Pup: Associations with Neurodevelopmental Outcomes.

    Science.gov (United States)

    Van Hoomissen, Samala; Gulland, Frances M D; Greig, Denise J; Castellini, J Margaret; O'Hara, Todd M

    2015-09-01

    Monomethylmercury (MeHg(+)) is an environmental pollutant, which at sufficiently high exposures, has induced neurotoxicosis in several animal species, including humans. Adverse neurological effects due to gestational exposure are of particular concern as MeHg(+) readily crosses the blood-brain and placental barriers. The degree to which environmental concentrations in marine prey affect free-living piscivorous wildlife, however, remains largely undetermined. We examined associations of gestational exposures to mercury on neurodevelopment and survival using hair and blood concentrations of total mercury ([THg]) in a stranded population of Pacific harbor seal pups from central California. A positive association was determined for the presence of abnormal neurological symptoms and increasing [THg] in blood (P = 0.04), but not hair. Neither hair nor blood [THg] was significantly associated with survival, or the neurodevelopmental milestone 'free-feeding', which was measured from the onset of hand-assisted feeding to the time at which pups were able to consume fish independently. Both hair and blood [THg] exceeded threshold values considered potentially toxic to humans and other mammalian wildlife species. The higher [THg] in blood associated with abnormal neurological symptoms may indicate an adverse effect of this pollutant on neurodevelopment in harbor seal pups. These data have broader implications with respect to human health and public policy as harbor seals and humans consume similar fish species, and it is possible that safeguard levels established for marine mammals could also extend to human populations that regularly consume fish.

  20. A Dose-Response Relationship between Organic Mercury Exposure from Thimerosal-Containing Vaccines and Neurodevelopmental Disorders

    Directory of Open Access Journals (Sweden)

    David A. Geier

    2014-09-01

    Full Text Available A hypothesis testing case-control study evaluated concerns about the toxic effects of organic-mercury (Hg exposure from thimerosal-containing (49.55% Hg by weight vaccines on the risk of neurodevelopmental disorders (NDs. Automated medical records were examined to identify cases and controls enrolled from their date-of-birth (1991–2000 in the Vaccine Safety Datalink (VSD project. ND cases were diagnosed with pervasive developmental disorder (PDD, specific developmental delay, tic disorder or hyperkinetic syndrome of childhood. In addition, putative non-thimerosal-related outcomes of febrile seizure, failure to thrive and cerebral degenerations were examined. The cumulative total dose of Hg exposure from thimerosal-containing hepatitis B vaccine (T-HBV administered within the first six months of life was calculated. On a per microgram of organic-Hg basis, PDD (odds ratio (OR = 1.054, specific developmental delay (OR = 1.035, tic disorder (OR = 1.034 and hyperkinetic syndrome of childhood (OR = 1.05 cases were significantly more likely than controls to receive increased organic-Hg exposure. By contrast, none of the non-thimerosal related outcomes were significantly more likely than the controls to have received increased organic-Hg exposure. Routine childhood vaccination may be an important public health tool to reduce infectious disease-associated morbidity/mortality, but the present study significantly associates organic-Hg exposure from T-HBV with an increased risk of an ND diagnosis.

  1. Tagged vulture causes concerns

    African Journals Online (AJOL)

    2008-09-15

    Sep 15, 2008 ... student from the Department of Ecology,. Evolution and. Behaviour at the. Tagged vulture causes concerns. Hebrew University of Jerusalem, working under Professor Ran Nathan and studying the movement and ... in a proliferation of feral dogs, wolves and particularly Golden Jackals (which are extremely ...

  2. Separation of Concerns

    DEFF Research Database (Denmark)

    Ernst, Erik

    2003-01-01

    Separation of concerns is a crucial concept in discussions about software engineering consequences of programming language design decisions, especially in AOSD. This paper proposes a way to formalize this concept, and argues that the given formalization is useful even if it is used primarily...

  3. Rare CNVs in Suicide Attempt include Schizophrenia-Associated Loci and Neurodevelopmental Genes: A Pilot Genome-Wide and Family-Based Study.

    Directory of Open Access Journals (Sweden)

    Marcus Sokolowski

    Full Text Available Suicidal behavior (SB has a complex etiology involving genes and environment. One of the genetic components in SB could be copy number variations (CNVs, as CNVs are implicated in neurodevelopmental disorders. However, a recently published genome-wide and case-control study did not observe any significant role of CNVs in SB. Here we complemented these initial observations by instead using a family-based trio-sample that is robust to control biases, having severe suicide attempt (SA in offspring as main outcome (n = 660 trios. We first tested for CNV associations on the genome-wide Illumina 1M SNP-array by using FBAT-CNV methodology, which allows for evaluating CNVs without reliance on CNV calling algorithms, analogous to a common SNP-based GWAS. We observed association of certain T-cell receptor markers, but this likely reflected inter-individual variation in somatic rearrangements rather than association with SA outcome. Next, we used the PennCNV software to call 385 putative rare (100 kb CNVs, observed in n = 225 SA offspring. Nine SA offspring had rare CNV calls in a set of previously schizophrenia-associated loci, indicating the importance of such CNVs in certain SA subjects. Several additional, very large (>1MB sized CNV calls in 15 other SA offspring also spanned pathogenic regions or other neural genes of interest. Overall, 45 SA had CNVs enriched for 65 medically relevant genes previously shown to be affected by CNVs, which were characterized by a neurodevelopmental biology. A neurodevelopmental implication was partly congruent with our previous SNP-based GWAS, but follow-up analysis here indicated that carriers of rare CNVs had a decreased burden of common SNP risk-alleles compared to non-carriers. In conclusion, while CNVs did not show genome-wide association by the FBAT-CNV methodology, our preliminary observations indicate rare pathogenic CNVs affecting neurodevelopmental functions in a subset of SA, who were distinct from SA having

  4. Neurodevelopmental origins of abnormal cortical morphology in dissociative identity disorder.

    Science.gov (United States)

    Reinders, A A T S; Chalavi, S; Schlumpf, Y R; Vissia, E M; Nijenhuis, E R S; Jäncke, L; Veltman, D J; Ecker, C

    2018-02-01

    To examine the two constitutes of cortical volume (CV), that is, cortical thickness (CT) and surface area (SA), in individuals with dissociative identity disorder (DID) with the view of gaining important novel insights into the underlying neurobiological mechanisms mediating DID. This study included 32 female patients with DID and 43 matched healthy controls. Between-group differences in CV, thickness, and SA, the degree of spatial overlap between differences in CT and SA, and their relative contribution to differences in regional CV were assessed using a novel spatially unbiased vertex-wise approach. Whole-brain correlation analyses were performed between measures of cortical anatomy and dissociative symptoms and traumatization. Individuals with DID differed from controls in CV, CT, and SA, with significantly decreased CT in the insula, anterior cingulate, and parietal regions and reduced cortical SA in temporal and orbitofrontal cortices. Abnormalities in CT and SA shared only about 3% of all significantly different cerebral surface locations and involved distinct contributions to the abnormality of CV in DID. Significant negative associations between abnormal brain morphology (SA and CV) and dissociative symptoms and early childhood traumatization (0 and 3 years of age) were found. In DID, neuroanatomical areas with decreased CT and SA are in different locations in the brain. As CT and SA have distinct genetic and developmental origins, our findings may indicate that different neurobiological mechanisms and environmental factors impact on cortical morphology in DID, such as early childhood traumatization. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  5. Neurodevelopmental and psychiatric issues in Down's syndrome: assessment and intervention.

    Science.gov (United States)

    Vicari, Stefano; Pontillo, Maria; Armando, Marco

    2013-06-01

    Down's syndrome (DS) is the most frequent genetic cause of intellectual disability and patients with DS show significant psychopathology (18-23%). Moreover, individuals with DS often show a cognitive decline associated with ageing characterized by a deterioration in memory, language and cognitive functioning. According to these relevant findings, an overview is presented of state-of-the-art knowledge of the neurocognitive, neurobiological and psychopathological profile, assessment and treatment of patients with DS. The linguistic characteristics of DS develop differently along distinct developmental trajectories. Thus, for example, morphosyntax deficit, especially in production, is more evident in adolescence than in early childhood and lexicon is usually better preserved in all ages (at least in comprehension). So far, rehabilitation is the only effective approach for improving cognitive and linguistic abilities. However, ongoing preliminary reports on other approaches such as transmagnetic stimulation or drugs suggest alternative or integrative treatment for the future. Individuals with DS show typical organization of brain structures related to some cognitive abilities, such as reduced volume in frontal and prefrontal areas, which is related to poor executive and linguistic abilities. They also frequently show psychiatric disorders such as externalizing disorders as well as depression, anxiety and obsessive-compulsive disorder. Nevertheless, as for other genetic syndrome with intellectual disability, there is a significant lack of research specifically focused on treatments of psychiatric and behavioural problems in DS. This is true both for psychosocial and for pharmacological interventions.

  6. Cord Blood DNA Methylation Biomarkers for Predicting Neurodevelopmental Outcomes

    Directory of Open Access Journals (Sweden)

    Nicolette A. Hodyl

    2016-12-01

    Full Text Available Adverse environmental exposures in pregnancy can significantly alter the development of the fetus resulting in impaired child neurodevelopment. Such exposures can lead to epigenetic alterations like DNA methylation, which may be a marker of poor cognitive, motor and behavioral outcomes in the infant. Here we review studies that have assessed DNA methylation in cord blood following maternal exposures that may impact neurodevelopment of the child. We also highlight some key studies to illustrate the potential for DNA methylation to successfully identify infants at risk for poor outcomes. While the current evidence is limited, in that observations to date are largely correlational, in time and with larger cohorts analyzed and longer term follow-up completed, we may be able to develop epigenetic biomarkers that not only indicate adverse early life exposures but can also be used to identify individuals likely to be at an increased risk of impaired neurodevelopment even in the absence of detailed information regarding prenatal environment.

  7. Neurodevelopmental Hypothesis about the Etiology of Autism Spectrum Disorders

    Directory of Open Access Journals (Sweden)

    Toshio Inui

    2017-07-01

    Full Text Available Previous models or hypotheses of autism spectral disorder (ASD failed to take into full consideration the chronological and causal developmental trajectory, leading to the emergence of diverse phenotypes through a complex interaction between individual etiologies and environmental factors. Those phenotypes include persistent deficits in social communication and social interaction (criteria A in DSM-5, and restricted, repetitive patterns of behavior, interests, or activities (criteria B in DSM-5. In this article, we proposed a domain-general model that can explain criteria in DSM-5 based on the assumption that the same etiological mechanism would trigger the various phenotypes observed in different individuals with ASD. In the model, we assumed the following joint causes as the etiology of autism: (1 Hypoplasia of the pons in the brainstem, occurring immediately following neural tube closure; and (2 Deficiency in the GABA (γ-aminobutyric acid developmental switch during the perinatal period. Microstructural abnormalities of the pons directly affect both the structural and functional development of the brain areas strongly connected to it, especially amygdala. The impairment of GABA switch could not only lead to the deterioration of inhibitory processing in the neural network, but could also cause abnormal cytoarchitecture. We introduced a perspective that atypical development in both brain structure and function can give full explanation of diverse phenotypes and pathogenetic mechanism of ASD. Finally, we discussed about neural mechanisms underlying the phenotypic characteristics of ASD that are not described in DSM-5 but should be considered as important foundation: sleep, global precedence, categorical perception, intelligence, interoception and motor control.

  8. [Neurodevelopmental disorders in response to hormonally active environmental pollutants].

    Science.gov (United States)

    Kajta, Małgorzata; Wójtowicz, Anna

    2010-01-01

    In recent years, the major concern has been focused on persistent organic pollutants (POPs), which are present in ecosphere in increasing concentrations, especially since 1950s. Among of these pollutants are dioxins and polychlorinated biphenyls (PCBs) released during vast burning and plastics processing, as well as pesticides which were industrial chemicals intensively produced for many years. In last decade, dioxins together with PCBs and pesticides have been classified as endocrine disrupting chemicals, because they are able to alter hormone-dependent processes and disrupt functioning of endocrine glands, e.g. thyroid and gonads. Furthermore, these pollutants have been included in neural disrupting chemicals due to their ability of altering neural transmission and formation of neural networks. Since POPs may persist in the environment for dozens of years, an exposure to these organic pollutants creates a serious issue for environmental toxicologists. POP intoxication creates severe clinical problems, which became evident in dramatic circumstances, e.g. Yusho incident in Japan, Yu-Cheng incident in Tajwan, Michigan Lake poisoning. Clinical problems have been recognized as disruption of thyroid and gonadal functions, immunodeficiency as well as psychomotor deficits and increased occurrence of hormone-dependent cancers. Thus, knowledge on POP effects on human nervous system has been related mainly to toxic effects of these organic pollutants. Little is known, however, about the action of very low, so called background, doses of POPs and their effects on hormonal homeostasis in developing brain. It is of particular importance, because doses which are low for adults might become toxic for fetuses, infants or children. Recently, the public concern has been focused on POP effects on brain function, concomitantly with the increase in neuropsychiatric disorders, including autism, attention deficit and hyperactivity disorder (ADHD) as well as learning disabilities

  9. Mevalonate Cascade and Neurodevelopmental and Neurodegenerative Diseases: Future Targets for Therapeutic Application.

    Science.gov (United States)

    Jiao, Xiaodan; Ashtari, Niloufar; Rahimi-Balaei, Maryam; Chen, Qi Min; Badbezanchi, Ilnaz; Shojaei, Shahla; Marzban, Adel; Mirzaei, Nima; Chung, Seunghyuk; Guan, Teng; Li, Jiasi; Vriend, Jerry; Mehr, Shahram Ejtemaei; Kong, Jiming; Marzban, Hassan

    2017-01-01

    The mevalonate cascade is a key metabolic pathway that regulates a variety of cellular functions and is thereby implicated in the pathophysiology of most brain diseases, including neurodevelopmental and neurodegenerative disorders. Emerging lines of evidence suggest that statins and Rho GTPase inhibitors are efficacious and have advantageous properties in treatment of different pathologic conditions that are relevant to the central nervous system. Beyond the original role of statins in lowering cholesterol synthesis, they have anti-inflammatory, antioxidant and modulatory effects on signaling pathways. Additionally, Rho GTPase inhibitors and statins share the mevalonate pathway as a common target of their therapeutic actions. In this review, we discuss potential mechanisms through which these drugs, via their role in the mevalonate pathway, exert their neuroprotective effects in neurodegenerative and neurodevelopmental disorders. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  10. Genes, Gender, Environment, and Novel Functions of Estrogen Receptor Beta in the Susceptibility to Neurodevelopmental Disorders

    Directory of Open Access Journals (Sweden)

    Mukesh Varshney

    2017-02-01

    Full Text Available Many neurological disorders affect men and women differently regarding prevalence, progression, and severity. It is clear that many of these disorders may originate from defective signaling during fetal or perinatal brain development, which may affect males and females differently. Such sex-specific differences may originate from chromosomal or sex-hormone specific effects. This short review will focus on the estrogen receptor beta (ERβ signaling during perinatal brain development and put it in the context of sex-specific differences in neurodevelopmental disorders. We will discuss ERβ’s recent discovery in directing DNA de-methylation to specific sites, of which one such site may bear consequences for the susceptibility to the neurological reading disorder dyslexia. We will also discuss how dysregulations in sex-hormone signaling, like those evoked by endocrine disruptive chemicals, may affect this and other neurodevelopmental disorders in a sex-specific manner through ERβ.

  11. Expression of human Gaucher disease gene GBA generates neurodevelopmental defects and ER stress in Drosophila eye.

    Directory of Open Access Journals (Sweden)

    Takahiro Suzuki

    Full Text Available Gaucher disease (GD is the most common of the lysosomal storage disorders and is caused by defects in the GBA gene encoding glucocerebrosidase (GlcCerase. The accumulation of its substrate, glucocylceramide (GlcCer is considered the main cause of GD. We found here that the expression of human mutated GlcCerase gene (hGBA that is associated with neuronopathy in GD patients causes neurodevelopmental defects in Drosophila eyes. The data indicate that endoplasmic reticulum (ER stress was elevated in Drosophila eye carrying mutated hGBAs by using of the ER stress markers dXBP1 and dBiP. We also found that Ambroxol, a potential pharmacological chaperone for mutated hGBAs, can alleviate the neuronopathic phenotype through reducing ER stress. We demonstrate a novel mechanism of neurodevelopmental defects mediated by ER stress through expression of mutants of human GBA gene in the eye of Drosophila.

  12. Phenotypic plasticity and the perception-action-cognition-environment paradigm in neurodevelopmental genetic disorders.

    Science.gov (United States)

    Dan, Bernard; Pelc, Karine; de Meirleir, Linda; Cheron, Guy

    2015-04-01

    Careful study of the phenotype can have implications at several levels, namely clinical diagnosis, pathophysiological reasoning, management planning, and outcome measurement. Behavioural phenotypes involve cognition, communication, social skills, and motor control. They can be documented in a host of neurodevelopmental conditions and approached with the recently refined perception-action-cognition-environment (PACE) paradigm, which focuses on the neurodevelopmental processes that underlie learning and adaption to the environment through perception, action, and cognitive processing. Although this paradigm was originally developed in the context of cerebral palsy, it can be applied along developmental trajectories in several neurogenetic conditions, including Down syndrome, fragile X syndrome, Rett syndrome, Angelman syndrome, and Williams syndrome, to name but a few. It must be recognized, however, that relevant, valid tools for assessment and management strategies still need to be developed. © 2015 The Authors. Developmental Medicine & Child Neurology © 2015 Mac Keith Press.

  13. Body Image Concerns

    DEFF Research Database (Denmark)

    El Ansari, Walid; Dibba, Emily; Stock, Christiane

    2014-01-01

    AIMS: This cross-sectional study aimed to determine the socio-demographic, lifestyle and well-being variables that are associated with body image concerns (BIC) and whether these associations differed between female and male students. METHODS: A cross-sectional survey; 3,706 undergraduate students...... (2,699 females, 765 males) from seven universities in the UK completed a self-administered questionnaire that assessed socio-demographic, lifestyle, well-being and BIC based on the Body Shape Questionnaire developed by Cooper et al. Multifactorial logistic regression analysis examined the odds ratios......, perceived health, depressive symptoms) on the other. RESULTS: More females (35%) than males (8%) reported being moderately or markedly concerned with their body image. For both genders, BIC was associated with a higher level of depressive symptoms and to variable extents, with nutrition and year...

  14. The Question Concerning Thinking

    DEFF Research Database (Denmark)

    Riis, Søren

    2008-01-01

    Martin Heidegger's thought-provoking essay "The Question Concerning Technology" (1977a) placed technology at the heart of philosophy. Heidegger tried to show that the essence of technology provokes humans to think about the world in a very dangerous way. Yet if we follow Heidegger's analysis...... of technology, what role does that ascribe to philosophy? To be able to understand the programmatic scope of Heidegger's question ‘concerning' technology, we need to see it as inseparable from his famous thesis about the end of philosophy (1977c) and what he considers to be the ideal kind of thinking. However......, by doing so, we will in the end realize two important things. First, that Heidegger's declaration of the end of philosophy in fact also means the end of anything we can meaningfully call thinking. Second, that Heidegger's own thinking is completely different from his own ideal of thinking. Our question...

  15. Existential Concerns About Death

    DEFF Research Database (Denmark)

    Moestrup, Lene; Hansen, Helle Ploug

    2014-01-01

    patients in Danish hospices. The main findings demonstrated how the patients faced the forthcoming death without being anxious of death but sorrowful about leaving life. Furthermore, patients expressed that they avoided thinking about death. However, some had reconstructed specific and positive ideas about...... psychology or Kübler-Ross’ theory about death stages. The complex concerns might be explained using Martin Heidegger’s phenomenological thinking. We aimed to illuminate dying patients´ existential concerns about the impending death through a descriptive analysis of semi-structured interviews with 17 cancer...... afterlife and made accurate decisions for practical aspects of their death. The patients wished to focus on positive aspects in their daily life at hospice. It hereby seems important to have ongoing reflections and to include different theoretical perspectives when providing existential support to dying...

  16. Existential Concerns About Death

    DEFF Research Database (Denmark)

    Moestrup, Lene; Hansen, Helle Ploug

    2015-01-01

    patients in Danish hospices. The main findings demonstrated how the patients faced the forthcoming death without being anxious of death but sorrowful about leaving life. Furthermore, patients expressed that they avoided thinking about death. However, some had reconstructed specific and positive ideas about...... psychology or Kübler-Ross’ theory about death stages. The complex concerns might be explained using Martin Heidegger’s phenomenological thinking. We aimed to illuminate dying patients´ existential concerns about the impending death through a descriptive analysis of semi-structured interviews with 17 cancer...... afterlife and made accurate decisions for practical aspects of their death. The patients wished to focus on positive aspects in their daily life at hospice. It hereby seems important to have ongoing reflections and to include different theoretical perspectives when providing existential support to dying...

  17. IMPORTANT CONCERN INVESTMENT MANAGEMENT

    Directory of Open Access Journals (Sweden)

    SINTEA (ANGHEL LUCICA

    2014-06-01

    Full Text Available The issue of probabilities, uncertainties and risks has concerned society since ancient times. By probability we can see the possible realization of an act or event under certain conditions. Uncertainty is caused by emotional status of the decision maker due to more subjective factors or to the knowledge to achieve an objective. Risk is a combination of the two elements characterized by a possible description of probabilities under insecurity uncertainty conditions.

  18. Altruism and Career Concerns

    OpenAIRE

    Shchetinin, Oleg

    2009-01-01

    The paper studies the impact of altruism on Agent’s motivation in the career concerns model. The paper shows the new channel of interaction between intrinsic and extrinsic motivation. The common point in the literature is that intrinsic motivation can be crowded out by the extrinsic incentives. My paper shows that crowding effect can go in the opposite direction: extrinsic incentives can be lessened for the intrinsically motivated agent. The analysis shows that altruism can decrea...

  19. Adaptation of the "ten questions" to screen for autism and other neurodevelopmental disorders in Uganda.

    Science.gov (United States)

    Kakooza-Mwesige, Angelina; Ssebyala, Keron; Karamagi, Charles; Kiguli, Sarah; Smith, Karen; Anderson, Meredith C; Croen, Lisa A; Trevathan, Edwin; Hansen, Robin; Smith, Daniel; Grether, Judith K

    2014-05-01

    Neurodevelopmental disorders are recognized to be relatively common in developing countries but little data exist for planning effective prevention and intervention strategies. In particular, data on autism spectrum disorders are lacking. For application in Uganda, we developed a 23-question screener (23Q) that includes the Ten Questions screener and additional questions on autism spectrum disorder behaviors. We then conducted household screening of 1169 children, 2-9 years of age, followed by clinical assessment of children who screened positive and a sample of those who screened negative to evaluate the validity of the screener. We found that 320 children (27% of the total) screened positive and 68 children received a clinical diagnosis of one or more moderate to severe neurodevelopmental disorders (autism spectrum disorder; cerebral palsy; epilepsy; cognitive, speech and language, hearing, or vision impairment), including 8 children with autism spectrum disorders. Prevalence and validity of the screener were evaluated under different statistical assumptions. Sensitivity of the 23Q ranged from 0.55 to 0.80 and prevalence for ≥1 neurodevelopmental disorders from 7.7/100 children to 12.8/100 children depending on which assumptions were used. The combination of screening positive on both autism spectrum disorders and Ten Questions items was modestly successful in identifying a subgroup of children at especially high risk of autism spectrum disorders. We recommend that autism spectrum disorders and related behavioral disorders be included in studies of neurodevelopmental disorders in low-resource settings to obtain essential data for planning local and global public health responses.

  20. Efficacy of Intensive Neurodevelopmental Treatment for Children With Developmental Delay, With or Without Cerebral Palsy

    OpenAIRE

    Lee, Kyoung-Hwan; Park, Jinwoo; Lee, Hojun; Nam, Kiyeun; Park, Tae June; Kim, Hee Jae; Kwon, Bumsun

    2017-01-01

    Objective To evaluate the effectiveness of intensive neurodevelopmental treatment (NDT) on gross motor function for the children having developmental delay (DD), with or without cerebral palsy (CP). Methods Forty-two children had intensive NDT three times weekly, 60 minutes a day, for 3 months, immediately followed by conventional NDT once or twice a week, 30 minutes a day, for another 3 months. We assessed Gross Motor Function Measure (GMFM) over three time points: before conventional NDT, b...

  1. Does Congenital Heart Disease Affect Neurodevelopmental Outcomes in Children with Down Syndrome?

    Science.gov (United States)

    Alsaied, Tarek; Marino, Bradley S; Esbensen, Anna J; Anixt, Julia S; Epstein, Jeffery N; Cnota, James F

    2016-01-01

    The impact that congenital heart disease (CHD) has on the neurodevelopment of children with Down syndrome (DS) is unknown and potentially has implications for targeted early intervention. This study assessed the relationship between CHD that required surgery in the first year of life and neurodevelopmental, behavioral and emotional functioning outcomes in children with DS. A retrospective chart review of 1092 children (0-18 years) with DS who visited a single institution from 8/08-8/13 was performed. Children who underwent at least one of nine neurodevelopmental (cognitive, language, developmental) or academic tests were included in the analysis (N = 178). Cohort was age-divided into infants/toddlers (0-2 years), preschoolers (3-5 years), and school age/adolescent (6-18 years). Test scores of children with DS who underwent cardiac surgery in the first year of life were compared to children with DS without CHD. T test, chi-square and Mann Whitney U tests were used where appropriate. Infants/toddlers with cardiac surgery had lower scores for receptive (P = .01), expressive (P = .021) and composite language (P children with cardiac surgery there were no differences in IQ scores, language scores, or academic achievement scores compared to those without CHD. Also at school-age there was no difference in the incidence of ADHD, executive function or on internalizing and externalizing behavior scores. Children with DS undergoing cardiac surgery during the first year demonstrated poorer neurodevelopmental outcomes as infants/toddler but had no difference at school age compared to children with DS without CHD. These results will guide early interventions to optimize neurodevelopmental outcomes in children with DS and will help with family counseling after CHD repair. © 2016 Wiley Periodicals, Inc.

  2. Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

    OpenAIRE

    Hori, Ikumi; Otomo, Takanobu; Nakashima, Mitsuko; Miya, Fuyuki; Negishi, Yutaka; SHIRAISHI, HIDEAKI; Nonoda, Yutaka; Magara, Shinichi; Tohyama, Jun; Okamoto, Nobuhiko; KUMAGAI, Takeshi; Shimoda, Konomi; Yukitake, Yoshiya; Kajikawa, Daigo; Morio, Tomohiro

    2017-01-01

    Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, developmental delay, and hypopigmentation. Mutations in EPG5, a gene that encodes a key autophagy regulator, have been shown to cause VICIS, however, the precise pathomechanism underlying VICIS is yet to be clarified. Here, we describe detailed clinical (including brain MRI and musc...

  3. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

    OpenAIRE

    Byrne, Susan; Jansen, Lara; U-King-Im, Jean-Marie; Siddiqui, Ata; Lidov, Hart G. W.; Bodi, Istvan; Smith, Luke; Mein, Rachael; Cullup, Thomas; Dionisi-Vici, Carlo; Al-Gazali, Lihadh; Al-Owain, Mohammed; Bruwer, Zandre; Al Thihli, Khalid; El-Garhy, Rana

    2016-01-01

    Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy gene EPG5. We report genetic, clinical, neuroradiological, and neuropathological features of 50 children from 30 families, as well as the neuronal phenotype of EPG5 knock-down in Drosophila melanogaster. We identified 39 different EPG5 mutations, most of them truncating and predicted to result in reduced EPG5 protein. Most mutations were private, but three recurrent mutations...

  4. Identification of neurodevelopmental disabilities in underserved children using telehealth (INvesT): Clinical trial study design.

    Science.gov (United States)

    Ciccia, Angela Hein; Roizen, Nancy; Garvey, Matt; Bielefeld, Roger; Short, Elizabeth J

    2015-11-01

    Children living in poverty are at high risk for delays in development of language and behavior and they experience a discrepancy in diagnosis and access to intervention services. This gap is partially caused by barriers in access as well as traits that are specific to each child and family. The Identification of Neurodevelopmental Disabilities in Underserved Children using Telehealth (INvesT) trial is a novel intervention approach that was specifically designed to address these barriers. The INvesT trial has three primary aims: 1) to reduce the age of identification of neurodevelopmental disability for high-risk, low-income children. 2) To validate the INvesT protocol as a service delivery model that will decrease age of identifications of neurodevelopmental disability for high-risk, low-income children; and 3) to identify important child-specific factors, family-specific factors, and environmental factors that impact feasibility and success of the INvesT trial for high-risk, low-income children. The INvesT trial is an open-label, double-blinded, placebo-controlled multi-level study that includes telehealth risk assessment, telehealth screening, traditional full assessment, and follow through to enrollment in early intervention. The trial is conducted in partnership with an urban community health clinic that largely serves a low-income patient population. The results of the INvesT trial will provide evidence for the use of a telehealth service delivery model to improve access to care for neurodevelopmental disabilities for high-risk, low-income children. Copyright © 2015 Elsevier Inc. All rights reserved.

  5. Rapamycin Prevents Seizures After Depletion of STRADA in a Rare Neurodevelopmental Disorder

    OpenAIRE

    Parker, Whitney E.; Orlova, Ksenia A.; Parker, William H.; Birnbaum, Jacqueline F.; Krymskaya, Vera P.; Goncharov, Dmitry A.; Baybis, Marianna; Helfferich, Jelte; Okochi, Kei; Strauss, Kevin A.; Crino, Peter B.

    2013-01-01

    A rare neurodevelopmental disorder in the Old Order Mennonite population called PMSE (polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome; also called Pretzel syndrome) is characterized by infantile-onset epilepsy, neurocognitive delay, craniofacial dysmorphism, and histopathological evidence of heterotopic neurons in subcortical white matter and subependymal regions. PMSE is caused by a homozygous deletion of exons 9 to 13 of the LYK5/STRADA gene, which encodes the pseudokinase...

  6. Validation and adaptation of rapid neurodevelopmental assessment instrument for infants in Guatemala.

    Science.gov (United States)

    Thompson, L; Peñaloza, R A; Stormfields, K; Kooistra, R; Valencia-Moscoso, G; Muslima, H; Khan, N Z

    2015-11-01

    Timely detection of neurodevelopmental impairments in children can prompt referral for critical services that may prevent permanent disability. However, screening of impairments is a significant challenge in low-resource countries. We adapted and validated the rapid neurodevelopmental assessment (RNDA) instrument developed in Bangladesh to assess impairment in nine domains: primitive reflexes, gross and fine motor development, vision, hearing, speech, cognition, behaviour and seizures. We conducted a cross-sectional study of 77 infants (0-12 months) in rural Guatemala in July 2012 and July 2013. We assessed inter-rater reliability and predictive validity between the 27-item RNDA and the 325-item Bayley Scales of Infant and Toddler Development, Third Edition (BSID-III) and concurrent validity based on chronic malnutrition, a condition associated with neurodevelopmental impairments. For both RNDA and BSID-III, standardized scores below 80 were defined as borderline impairment. Children came from rural households (92%), were born to indigenous women of Mayan descent (73%) and had moderate or severe growth stunting (43%). Inter-rater reliability for eight RNDA domains was of moderate to high reliability (weighted κ coefficients, 0.49-0.99). Children screened positive for impairment in fine motor (17%) and gross motor (14%) domains using the RNDA. The RNDA had good concurrent ability; infants who were growth stunted had higher mean levels of impairment in gross motor, speech and cognition domains (all p < 0.001). The RNDA took 20-30 min to complete compared with 45-60 min for BSID-III. Wide-scale implementation of a simple, valid and reliable screening tool like the RNDA by community health workers would facilitate early screening and referral of infants at-risk for neurodevelopmental impairment. © 2015 John Wiley & Sons Ltd.

  7. Is Adult ADHD a Childhood-Onset Neurodevelopmental Disorder? Evidence From a Four-Decade Longitudinal Cohort Study

    National Research Council Canada - National Science Library

    Moffitt, Terrie E; Houts, Renate; Asherson, Philip; Belsky, Daniel W; Corcoran, David L; Hammerle, Maggie; Harrington, HonaLee; Hogan, Sean; Meier, Madeline H; Polanczyk, Guilherme V; Poulton, Richie; Ramrakha, Sandhya; Sugden, Karen; Williams, Benjamin; Rohde, Luis Augusto; Caspi, Avshalom

    2015-01-01

    Objective:Despite a prevailing assumption that adult ADHD is a childhood-onset neurodevelopmental disorder, no prospective longitudinal study has described the childhoods of the adult ADHD population...

  8. Modulating Tone to Promote Motor Development Using a Neurofacilitation of Developmental Reaction (NFDR) Approach in Children with Neurodevelopmental Delay

    National Research Council Canada - National Science Library

    Vijay Batra; Meenakshi Batra; Ravindra Mohan Pandey; Vijai Prakash Sharma; Girdhar Gopal Agarwal

    2015-01-01

      [...]assessments of muscle tone and primitive reflex status are crucial parts of motor examinations and the formulation of intervention strategies for children with neurodevelopmental delay (3,4...

  9. Utilization of the Premature Birth Knowledge Scale to Assess Pediatric Provider Knowledge of Neurodevelopmental Outcomes.

    Science.gov (United States)

    Kelly, Michelle M; Dean, Spencer

    Prematurity affects a significant portion (10-12%) of children in the Unites States, with potential for physical, psychological, neurodevelopmental, and behavioral impairments continuing long past the neonatal period. The specific aim of this research was to evaluate pediatric primary and specialty care providers' knowledge and understanding of neurodevelopmental outcomes of children born prematurely. Pediatric nurse practitioner (PNP) members of the National Association of Pediatric Nurse Practitioners participated in an online survey using the 33-item Premature Birth Knowledge Scale (PB-KS) to assess their knowledge of current neurodevelopmental outcomes of children born prematurely. Neither years of practice as a registered nurse nor as a PNP predicted performance on the PB-KS. The mean score on the PB-KS in the PNP sample was 17.8 (possible score = 0-33), with a mean accuracy of 53.9%. Higher scores on the PB-KS were correlated with higher perceived level of preparation to care for children born prematurely. To our knowledge, this is the first study to use the PB-KS with pediatric primary and specialty providers. PNPs are uniquely situated to educate and support families facing the long-term consequences of premature birth; to do so they must maintain accurate understanding of current outcomes. Copyright © 2017 National Association of Pediatric Nurse Practitioners. Published by Elsevier Inc. All rights reserved.

  10. Mutation of Semaphorin-6A disrupts limbic and cortical connectivity and models neurodevelopmental psychopathology.

    LENUS (Irish Health Repository)

    2011-01-01

    Psychiatric disorders such as schizophrenia and autism are characterised by cellular disorganisation and dysconnectivity across the brain and can be caused by mutations in genes that control neurodevelopmental processes. To examine how neurodevelopmental defects can affect brain function and behaviour, we have comprehensively investigated the consequences of mutation of one such gene, Semaphorin-6A, on cellular organisation, axonal projection patterns, behaviour and physiology in mice. These analyses reveal a spectrum of widespread but subtle anatomical defects in Sema6A mutants, notably in limbic and cortical cellular organisation, lamination and connectivity. These mutants display concomitant alterations in the electroencephalogram and hyper-exploratory behaviour, which are characteristic of models of psychosis and reversible by the antipsychotic clozapine. They also show altered social interaction and deficits in object recognition and working memory. Mice with mutations in Sema6A or the interacting genes may thus represent a highly informative model for how neurodevelopmental defects can lead to anatomical dysconnectivity, resulting, either directly or through reactive mechanisms, in dysfunction at the level of neuronal networks with associated behavioural phenotypes of relevance to psychiatric disorders. The biological data presented here also make these genes plausible candidates to explain human linkage findings for schizophrenia and autism.

  11. Using Sibling Designs to Understand Neurodevelopmental Disorders: From Genes and Environments to Prevention Programming

    Directory of Open Access Journals (Sweden)

    Mark Wade

    2015-01-01

    Full Text Available Neurodevelopmental disorders represent a broad class of childhood neurological conditions that have a significant bearing on the wellbeing of children, families, and communities. In this review, we draw on evidence from two common and widely studied neurodevelopmental disorders—autism spectrum disorder (ASD and attention-deficit hyperactivity disorder (ADHD—to demonstrate the utility of genetically informed sibling designs in uncovering the nature and pathogenesis of these conditions. Specifically, we examine how twin, recurrence risk, and infant prospective tracking studies have contributed to our understanding of genetic and environmental liabilities towards neurodevelopmental morbidity through their impact on neurocognitive processes and structural/functional neuroanatomy. It is suggested that the siblings of children with ASD and ADHD are at risk not only of clinically elevated problems in these areas, but also of subthreshold symptoms and/or subtle impairments in various neurocognitive skills and other domains of psychosocial health. Finally, we close with a discussion on the practical relevance of sibling designs and how these might be used in the service of early screening, prevention, and intervention efforts that aim to alleviate the negative downstream consequences associated with disorders of neurodevelopment.

  12. An interdisciplinary bronchopulmonary dysplasia program is associated with improved neurodevelopmental outcomes and fewer rehospitalizations.

    Science.gov (United States)

    Shepherd, E G; Knupp, A M; Welty, S E; Susey, K M; Gardner, W P; Gest, A L

    2012-01-01

    Bronchopulmonary dysplasia (BPD) is a pulmonary disease associated with poor neurodevelopmental and medical outcomes. Patients with BPD are medically fragile, at high risk for complications and require interdisciplinary care. We tested the hypothesis that a chronic care approach for BPD would improve neurodevelopmental outcomes relative to the National Institute of Child and Human Development Neonatal Research Network (NICHD NRN) and reduce medical complications. Infants were followed as inpatients and outpatients. Bayley developmental exams were carried out at 18-24 months of age and compared with the NICHD NRN report. Finally, rates of readmission (a proxy for medical complications) were compared before and after implementation of the Comprehensive Center for BPD (CCBPD). Developmental scores obtained in 2007 and 2008 show that 12 and 10% of patients with moderate BPD (n=61) had Bayley Scores <70 for mental and motor indices respectively, whereas corresponding national rates were 35 and 26%. For patients with severe BPD (n=46), 15 and 11% of patients within the CCBPD vs 50 and 42% of national patients scored <70 for mental and motor indices, respectively. Finally, readmission rates dropped from 29% in the year before the implementation of the CCPD (n=269) to 5% thereafter (n=866, P<0.0001). The encouraging neurodevelopmental outcomes and readmission rates associated with a chronic care approach to BPD suggest these infants may be best served by a comprehensive interdisciplinary approach to care that focuses on neurodevelopment throughout the hospital stay.

  13. Increased risk of neuropsychological disorders in children born preterm without major disabilities: a neurodevelopmental model

    Directory of Open Access Journals (Sweden)

    Dipasquale Filippo

    2009-06-01

    Full Text Available Over the past 30 years, preterm births have drastically increased and today represent 12.5% of total births. About 1.2% of preterm births characterize very preterm births (GA<32weeks that, with very low birth weight (BW<1500grams, are constantly found as risk factors of unfavourable neurological outcomes in longitudinal follow up studies. Actually, also “late preterm” children (preterm born from 33 to 36 weeks of gestational age, normally considered at low risk for neurodevelopmental disabilities, are supposed to represent a population of children to be monitored. Previous findings of a general cognitive impairment in children born preterm have gradually addressed the assessment of more specific neuropsychological skills and pointed out the importance to follow these children up to adolescent age. The neuroanatomical prerequisite of an abnormality in frontal lobe development and the correlation with various neuropsychological dysfunctions (fine and gross motor disabilities, executive function and working memory deficits, visual-constructional and attentional dysfunctions underline the interference of preterm birth with normal brain maturational phases. Though showing more demanding neurodevelopmental pathways than term peers, a large number of preterm children tend to functionally normalize in adolescence. The review supports the hypothesis of a neurodevelopmental model that can be at risk to influence dysfunctional neuropsychological outcome.

  14. Early Life Characteristics and Neurodevelopmental Phenotypes in the Mount Sinai Children's Environmental Health Center.

    Science.gov (United States)

    Furlong, Melissa; Herring, Amy H; Goldman, Barbara D; Daniels, Julie L; Wolff, Mary S; Engel, Lawrence S; Engel, Stephanie M

    2017-11-24

    Neurodevelopmental outcomes including behavior, executive functioning, and IQ exhibit complex correlational structures, although they are often treated as independent in etiologic studies. We performed a principal components analysis of the behavioral assessment system for children, the behavior rating inventory of executive functioning, and the Wechsler scales of intelligence in a prospective birth cohort, and estimated associations with early life characteristics. We identified seven factors: (1) impulsivity and externalizing, (2) executive functioning, (3) internalizing, (4) perceptual reasoning, (5) adaptability, (6) processing speed, and (7) verbal intelligence. Prenatal fish consumption, maternal education, preterm birth, and the home environment were important predictors of various neurodevelopmental factors. Although maternal smoking was associated with more adverse externalizing, executive functioning, and adaptive composite scores in our sample, of the orthogonally-rotated factors, smoking was only associated with the impulsivity and externalizing factor ([Formula: see text] - 0.82, 95% CI - 1.42, - 0.23). These differences may be due to correlations among outcomes that were accounted for by using a phenotypic approach. Dimension reduction may improve upon traditional approaches by accounting for correlations among neurodevelopmental traits.

  15. Lack of evidence for neonatal misoprostol neurodevelopmental toxicity in C57BL6/J mice.

    Directory of Open Access Journals (Sweden)

    Claire M Koenig

    Full Text Available Misoprostol is a synthetic analogue of prostaglandin E1 that is administered to women at high doses to induce uterine contractions for early pregnancy termination and at low doses to aid in cervical priming during labor. Because of the known teratogenic effects of misoprostol when given during gestation and its effects on axonal growth in vitro, we examined misoprostol for its potential as a neurodevelopmental toxicant when administered to neonatal C57BL6/J mice. Mice were injected subcutaneously (s.c. with 0.4, 4 or 40 µg/kg misoprostol on postnatal day 7, the approximate developmental stage in mice of human birth, after which neonatal somatic growth, and sensory and motor system development were assessed. These doses were selected to span the range of human exposure used to induce labor. In addition, adult mice underwent a battery of behavioral tests relevant to neurodevelopmental disorders such as autism including tests for anxiety, stereotyped behaviors, social communication and interactions, and learning and memory. No significant effects of exposure were found for any measure of development or behavioral endpoints. In conclusion, the results of the present study in C57BL/6J mice do not provide support for neurodevelopmental toxicity after misoprostol administration approximating human doses and timed to coincide with the developmental stage of human birth.

  16. Postnatal brain development: Structural imaging of dynamic neurodevelopmental processes

    Science.gov (United States)

    Jernigan, Terry L.; Baaré, William F. C.; Stiles, Joan; Madsen, Kathrine Skak

    2013-01-01

    After birth, there is striking biological and functional development of the brain’s fiber tracts as well as remodeling of cortical and subcortical structures. Behavioral development in children involves a complex and dynamic set of genetically guided processes by which neural structures interact constantly with the environment. This is a protracted process, beginning in the third week of gestation and continuing into early adulthood. Reviewed here are studies using structural imaging techniques, with a special focus on diffusion weighted imaging, describing age-related brain maturational changes in children and adolescents, as well as studies that link these changes to behavioral differences. Finally, we discuss evidence for effects on the brain of several factors that may play a role in mediating these brain–behavior associations in children, including genetic variation, behavioral interventions, and hormonal variation associated with puberty. At present longitudinal studies are few, and we do not yet know how variability in individual trajectories of biological development in specific neural systems map onto similar variability in behavioral trajectories. PMID:21489384

  17. Long-term neurodevelopmental outcome after intrauterine transfusion for hemolytic disease of the fetus/newborn: the LOTUS study.

    Science.gov (United States)

    Lindenburg, Irene T; Smits-Wintjens, Vivianne E; van Klink, Jeanine M; Verduin, Esther; van Kamp, Inge L; Walther, Frans J; Schonewille, Henk; Doxiadis, Ilias I; Kanhai, Humphrey H; van Lith, Jan M; van Zwet, Erik W; Oepkes, Dick; Brand, Anneke; Lopriore, Enrico

    2012-02-01

    To determine the incidence and risk factors for neurodevelopmental impairment (NDI) in children with hemolytic disease of the fetus/newborn treated with intrauterine transfusion (IUT). Neurodevelopmental outcome in children at least 2 years of age was assessed using standardized tests, including the Bayley Scales of Infant Development, the Wechsler Preschool and Primary Scale of Intelligence, and the Wechsler Intelligence Scale for Children, according to the children's age. Primary outcome was the incidence of neurodevelopmental impairment defined as at least one of the following: cerebral palsy, severe developmental delay, bilateral deafness, and/or blindness. A total of 291 children were evaluated at a median age of 8.2 years (range, 2-17 years). Cerebral palsy was detected in 6 (2.1%) children, severe developmental delay in 9 (3.1%) children, and bilateral deafness in 3 (1.0%) children. The overall incidence of neurodevelopmental impairment was 4.8% (14/291). In a multivariate regression analysis including only preoperative risk factors, severe hydrops was independently associated with neurodevelopmental impairment (odds ratio, 11.2; 95% confidence interval, 1.7-92.7). Incidence of neurodevelopmental impairment in children treated with intrauterine transfusion for fetal alloimmune anemia is low (4.8%). Prevention of fetal hydrops, the strongest preoperative predictor for impaired neurodevelopment, by timely detection, referral and treatment may improve long-term outcome. Copyright © 2012 Mosby, Inc. All rights reserved.

  18. Neurodevelopmental delay among HIV-infected preschool children receiving antiretroviral therapy and healthy preschool children in Soweto, South Africa.

    Science.gov (United States)

    Lowick, Sarah; Sawry, Shobna; Meyers, Tammy

    2012-01-01

    Neurodevelopmental delay has been documented in up to 97.5% of HIV-infected children in Soweto who were not yet on antiretroviral treatment (ART). With growing numbers of children in South Africa being successfully treated with ART, the effects of ART on neurocognitive functioning in children require investigation. The objective of this study was to determine the extent of neurodevelopmental delay in stable HIV-infected preschool children (aged five to six years) receiving ART and compare it to an apparently healthy (unconfirmed HIV-status) group of preschool children. Thirty HIV-infected preschool children (virologically and immunologically stable on ART for more than one year) were conveniently sampled from 350 eligible children on ART at the Harriet Shezi Children's Clinic in Soweto, Johannesburg. The comparison group comprised 30 well-nourished preschool children attending the Lilian Ngoyi Primary Health Care Clinic in Soweto for routine immunizations. Each child was assessed using the Griffiths Mental Development Scales-Extended Revised Version (GMDS-ER), at a single point in time. The overall developmental z-scores on GMDS-ER were children in the HIV-infected group compared to 23 (76%) in the comparison group (p = 0.166). Mental handicap (overall GQ children in the HIV-infected group compared to 10% in the comparison group (p = 0.002). There was a 7.88-fold increased likelihood of severe delay in the HIV infected group. The HIV-infected group and comparison group had significantly different (p = 0.001) mean overall GQ scores of 70 (95% CI: 66.0-74.0) and 78 (95% CI: 75.6-80.5), respectively, with lower mean scores in the HIV-infected group in all individual domains. Early initiation of ART in HIV-infected infants may improve cognitive functioning among this group; however, intervention strategies which optimize early cognitive development for all children in the area need to be urgently considered.

  19. IIAM (important information about me): a patient portability profile app for adults, children and families with neurodevelopmental disabilities.

    Science.gov (United States)

    Jiam, N T; Hoon, A H; Hostetter, C F; Khare, M M

    2017-08-01

    To describe the development of important information about me (IIAM), an application (app) used to communicate and organize healthcare information for people with neurodevelopmental disabilities (NDD). Prior to the development of IIAM version 1.0, households with NDD were selected to participate in a focus group. Respondents (n = 7) were parents of children with NDD. Participants were asked to use a beta version for at least 2 months in day-to-day applications and to complete a questionnaire at the end of the trial. Over half (57%) of the participants found the beta version to be useful. The greatest limitation in usability was the child's age and literacy level. All participants found the app to be visually appealing and easy to navigate. IIAM was commonly used to communicate information to caregivers, and to facilitate quality interactions between the child and others. Mobile technology has become ubiquitous and has emerged as an important tool in healthcare. New applications could potentially promote accessible, cost-effective and self-managed interventions for the disability community. IIAM is a user-friendly, well-accepted and useful app for people with NDD. The focus group feedback elicited from the beta testing was used to develop the IIAM app version 1.0. However, the sample size in this initial feasibility study is small, and warrants a prospective study that evaluates the overall benefits of this app in improving quality of life and helping individuals with developmental disabilities manage their day-to-day activities. Implications for Rehabilitation Mobile technology has been more ubiquitous in health care and has emerged as a tool in communicating healthcare needs. New applications could potentially promote accessible, cost-effective and self-managed interventions for the disability community. IIAM (important information about me) is a new iOS application that enables adults and children with neurodevelopmental disabilities to organize their medical

  20. Markets for Collective Concerns

    DEFF Research Database (Denmark)

    Frankel, Christian; Ossandón, José; Pallesen, Trine

    Despite the recent fall-out of finance, confidence in the market does not seem to be diminishing, but, on the contrary, market mechanisms are becoming key instruments to deal with core contemporary collective concerns, including global warming, education, environmental pollution, supply of energy......, quality of education, poverty and health care (Mirowski 2013). Recent research within STS has started to focus on such kind of arrangements and in this presentation we will critically engage with this literature. Our main results are twofold. On the one hand, we recognize there are important conceptual...

  1. Turing Revisited: Decoding the microRNA Messages in Brain Extracellular Vesicles for Early Detection of Neurodevelopmental Disorders.

    Science.gov (United States)

    Gillet, Virginie; Hunting, Darel John; Takser, Larissa

    2016-09-01

    The prevention of neurodevelopmental disorders (NDD) of prenatal origin suffers from the lack of objective tools for early detection of susceptible individuals and the long time lag, usually in years, between the neurotoxic exposure and the diagnosis of mental dysfunction. Human data on the effects of alcohol, lead, and mercury and experimental data from animals on developmental neurotoxins and their long-term behavioral effects have achieved a critical mass, leading to the concept of the Developmental Origin of Health and Disease (DOHaD). However, there is currently no way to evaluate the degree of brain damage early after birth. We propose that extracellular vesicles (EVs) and particularly exosomes, released by brain cells into the fetal blood, may offer us a non-invasive means of assessing brain damage by neurotoxins. We are inspired by the strategy applied by Alan Turing (a cryptanalyst working for the British government), who created a first computer to decrypt German intelligence communications during World War II. Given the growing evidence that microRNAs (miRNAs), which are among the molecules carried by EVs, are involved in cell-cell communication, we propose that decrypting messages from EVs can allow us to detect damage thus offering an opportunity to cure, reverse, or prevent the development of NDD. This review summarizes recent findings on miRNAs associated with selected environmental toxicants known to be involved in the pathophysiology of NDD.

  2. Postnatal Phencyclidine (PCP) as a Neurodevelopmental Animal Model of Schizophrenia Pathophysiology and Symptomatology: A Review.

    Science.gov (United States)

    Grayson, B; Barnes, S A; Markou, A; Piercy, C; Podda, G; Neill, J C

    Cognitive dysfunction and negative symptoms of schizophrenia remain an unmet clinical need. Therefore, it is essential that new treatments and approaches are developed to recover the cognitive and social impairments that are seen in patients with schizophrenia. These may only be discovered through the use of carefully validated, aetiologically relevant and translational animal models. With recent renewed interest in the neurodevelopmental hypothesis of schizophrenia, postnatal administration of N-methyl-D-aspartate receptor (NMDAR) antagonists such as phencyclidine (PCP) has been proposed as a model that can mimic aspects of schizophrenia pathophysiology. The purpose of the current review is to examine the validity of this model and compare it with the adult subchronic PCP model. We review the ability of postnatal PCP administration to produce behaviours (specifically cognitive deficits) and neuropathology of relevance to schizophrenia and their subsequent reversal by pharmacological treatments. We review studies investigating effects of postnatal PCP on cognitive domains in schizophrenia in rats. Morris water maze and delayed spontaneous alternation tasks have been used for working memory, attentional set-shifting for executive function, social novelty discrimination for selective attention and prepulse inhibition of acoustic startle for sensorimotor gating. In addition, we review studies on locomotor activity and neuropathology. We also include two studies using dual hit models incorporating postnatal PCP and two studies on social behaviour deficits following postnatal PCP. Overall, the evidence we provide supports the use of postnatal PCP to model cognitive and neuropathological disturbances of relevance to schizophrenia. To date, there is a lack of evidence to support a significant advantage of postnatal PCP over the adult subchronic PCP model and full advantage has not been taken of its neurodevelopmental component. When thoroughly characterised, it is likely

  3. Concerned for Humanity club

    CERN Multimedia

    Concerned for humanity club

    2010-01-01

    Join the Comité International de Soutien à Adlène Hicheur Since October 8, 2009 our colleague Adlène Hicheur, a French-Algerian physicist working in LHCb has been arrested and then held in a French prison under suspicion of terrorism linked with AQMI. No material proof has been presented, only exchanges of messages on some forum sites suspected of Islamism have been mentioned. Adlène has continuously denied any link with AQMI and lives in a Kafkaesque situation since 14 mois. His lawyer has several times asked for his release and these requests have been turned down. As Adlène’s colleagues, we have been chocked by his arrest and are deeply concerned by the prolongation of his detention for his future in particle physics, even if he will be recognized innocent. Few Concerned-club members and colleagues have created an International committee to support Adlène in his defense presently having 65 members. We invite you t...

  4. Relation between humor and empathic concern.

    Science.gov (United States)

    Hampes, W P

    2001-02-01

    A series of studies have shown that humor is associated with close interpersonal relationships and effective in reducing stress, which in turn enhances empathy. Therefore, it was hypothesized that humor and empathic concern would be positively correlated. The Empathic Concern subscale of the Empathy Questionnaire, the Coping Humor Scale, the Multidimensional Sense of Humor Scale, and the Situational Humor Response Questionnaire were given to 124 subjects. Scores on the Empathic Concern subscale were significantly correlated with those on each of the humor scales. Types of humor may be an important variable in the relationship between empathic concern and humor. Both humor and empathic concern are associated for people with emotional intelligence who use these to interact effectively with other individuals. As such, it was suggested that exploration would yield a relation between humor and emotional self-awareness, which is also associated with emotional intelligence.

  5. Neurodevelopmental Outcomes Among Extremely Preterm Infants 6.5 Years After Active Perinatal Care in Sweden.

    Science.gov (United States)

    Serenius, Fredrik; Ewald, Uwe; Farooqi, Aijaz; Fellman, Vineta; Hafström, Maria; Hellgren, Kerstin; Maršál, Karel; Ohlin, Andreas; Olhager, Elisabeth; Stjernqvist, Karin; Strömberg, Bo; Ådén, Ulrika; Källén, Karin

    2016-10-01

    Active perinatal care increases the rate of survival of extremely preterm infants, but there are concerns that improved survival might increase the rate of disabled survivors. To determine the neurodevelopmental outcomes of a national cohort of children 6.5 years of age who had been born extremely preterm (children were assessed and compared with matched controls who had been born at term. Comparison estimates were adjusted for demographic differences. Assessments ended in February 2014, and analysis started thereafter. Cognitive ability was measured with the fourth edition of the Wechsler Intelligence Scale for Children (WISC-IV), and the mean (SD) scores of the children who had been born extremely preterm were compared with those of the controls. Clinical examinations and parental questionnaires were used for diagnosis of cerebral palsy, hearing and vision impairments, and cognition for the children who were not assessed with the WISC-IV. Of 486 eligible infants who were born extremely preterm, 441 (90.7%) were assessed at 6.5 years of age (59 by medical record review only) alongside 371 controls. The adjusted mean (SD) full-scale WISC-IV score was 14.2 (95% CI, 12.1-16.3) points lower for children who had been born extremely preterm than for controls. Cognitive disability was moderate for 18.8% of extremely preterm children and 2.2% of controls (P children and 0.3% of controls (P children and 0.0% of controls (P blindness was observed in 2.0% of extremely preterm children and 0.0% of controls (P children and 0.5% of controls (P = .07). Overall, 36.1% (95% CI, 31.7%-40.6%) of extremely preterm children had no disability, 30.4% (95% CI 26.3%-34.8%) had mild disability, 20.2% (95% CI, 16.6%-24.2%) had moderate disability, and 13.4% (95% CI, 10.5%-16.9%) had severe disability. For extremely preterm children, moderate or severe overall disability decreased with gestational age at birth (adjusted odds ratio per week, 0.65 [95% CI, 0.54-0.79]; P

  6. Medical concerns of marathons.

    Science.gov (United States)

    Jaworski, Carrie A

    2005-06-01

    One must remember that the first marathon runner, Phidippides, collapsed and died at the finish of his race. Fortunately, death has been an infrequent occurrence in modern day marathons. However, the physical exertion required to complete a marathon coupled with exposure to often harsh environmental conditions and an increase in the number of novice participants makes injuries inevitable. The medical team's main goal is to implement strategies to prevent serious injury and illness through pre-event planning, race day preparedness, and postevent evaluations. The three general categories of injuries encountered with marathon participation include medical conditions, musculoskeletal injuries, and dermatologic complaints. The focus of this article is on the evaluation and management of the varied medical concerns encountered on race day along with the essentials in prerace planning and preparedness.

  7. Aesthetics of Concern

    DEFF Research Database (Denmark)

    Thorsen, Line Marie

    2013-01-01

    In the wake of Hurricane Katrina in 2005 and the tsunami that hit Japan in 2011, several artists turned  their  practices  towards  the  subject  of  disaster  support.  Drawing on the philosophy of Bruno Latour, I argue that these artistic practices come  to articulate and  represent the multitude of concerns interwoven with disaster.  ...

  8. [Unpublished documents concerning Dupuytren].

    Science.gov (United States)

    Boulinier, G

    1996-01-01

    In the present paper is proposed a first incursion in various archives - mainly notarial ones - concerning Dupuytren and his close relatives, investigated by the author. They will be more thoroughly dealt with in a forthcoming book. These documents give us a better knowledge of various events of Dupuytren's public and private life. They namely disclose the great challenge shown by the surgeon-in-chief of the Hôtel-Dieu in marrying his daughter Adeline in the midst of the Paris cholera epidemic in 1832. They show moreover in this unusual character the essential role continually played by some preoccupations such as nobility, power, religion and wealth, amidst a family of which he is the only member to have shown the ambition to become famous in the medical field.

  9. Expression of Concern.

    Science.gov (United States)

    2017-11-01

    The Journal Editors hereby issue this note of an expression of concern for the following publication: Benjamin, A. J., Jr., Kepes, S., & Bushman, B. J. (2017). Effects of weapons on aggressive thoughts, angry feelings, hostile appraisals, and aggressive behavior: A meta-analytic review of the weapons effect literature. Personality and Social Psychology Review. Advance online publication. doi:10.1177/1088868317725419 The authors of this manuscript contacted the editors indicating they had discovered some errors in the computation of effect sizes in their meta-analysis. Initial reanalysis suggested that at least one of the substantive conclusions of the manuscript was affected by the error; the authors now urge greater caution in interpreting the effect size of weapons on aggressive behavioral outcomes. The authors will undertake a thorough reanalysis and will modify the results and interpretations accordingly, and this notice will be updated upon their completion of the modifications. The editorial staff appreciates the proactive efforts of the authors in this matter. The Editors and SAGE strive to uphold the very highest standards of publication ethics and are committed to supporting the high standards of integrity of Personality and Social Psychology Review. Authors, reviewers, editors, and interested readers should consult the ethics section of SAGE and the Committee on Publication Ethics (COPE) website for guidelines on publication ethics.

  10. Increasing Cumulative Exposure to Volatile Anesthetic Agents Is Associated with Poorer Neurodevelopmental Outcomes in Children with Hypoplastic Left Heart Syndrome

    Science.gov (United States)

    Diaz, Laura K.; Gaynor, J. William; Koh, Shannon J.; Ittenbach, Richard F.; Gerdes, Marsha; Bernbaum, Judy C.; Zackai, Elaine H.; Clancy, Robert R.; Rehman, Mohamed A.; Pennington, Jeffrey W.; Burnham, Nancy; Spray, Thomas L.; Nicolson, Susan C.

    2017-01-01

    Objectives Despite improved survival in children with hypoplastic left heart syndrome (HLHS), significant concern persists regarding their neurodevelopmental (ND) outcomes. Previous studies have identified patient factors, such as prematurity and genetic syndromes, to be associated with worse ND outcomes. However, no consistent relationships have been identified among modifiable management factors, including cardiopulmonary bypass strategies, and ND outcomes after cardiac surgery in infancy. Studies in immature animals, including primates, have demonstrated neurodegeneration and apoptosis in the brain after certain levels and extended durations of anesthetic exposure. Retrospective human studies have also suggested relationships between adverse ND effects and anesthetic exposure. Methods Cumulative minimum alveolar concentration hours (MAC-hrs) of exposure to volatile anesthetic agents (VAA) (desflurane, halothane, isoflurane and sevoflurane) were collected from an anesthetic database and medical record review for 96 patients with HLHS or variants. ND testing was performed between ages 4 and 5 years including full-scale IQ, verbal IQ, performance IQ and processing speed. Four generalized linear modes were hypothesized a priori and tested using a Gaussian (normal) distribution with an identity link. Results Cumulative VAA exposure ranged from 0 to 35.3 MAC-hrs (median 7.5 hrs). Using specified covariates identified previously as significant predictors of ND outcomes, statistically significant relationships were identified between total MAC-hrs exposure and worse full-scale IQ and verbal IQ scores (p’s < 0.05) alone and after adjusting for relevant covariates. Conclusion Increased cumulative MAC-hrs exposure to VAA is associated with worse ND outcomes in certain domains in children with HLHS and variants. PMID:27183886

  11. Preterm birth–associated neurodevelopmental impairment estimates at regional and global levels for 2010

    Science.gov (United States)

    Blencowe, Hannah; Lee, Anne CC; Cousens, Simon; Bahalim, Adil; Narwal, Rajesh; Zhong, Nanbert; Chou, Doris; Say, Lale; Modi, Neena; Katz, Joanne; Vos, Theo; Marlow, Neil; Lawn, Joy E.

    2013-01-01

    Background: In 2010, there were an estimated 15 million preterm births worldwide (preterm babies according to the level of care. A compartmental model was used to estimate the number of impaired postneonatal survivors following preterm birth in 2010. A separate model (DisMod-MR) was used to estimate years lived with disability (YLDs) for the global burden of disease 2010 study. Disability adjusted life years (DALYs) were calculated as the sum of YLDs and years of life lost (YLLs). Results: In 2010, there were an estimated 13 million preterm births who survived beyond the first month. Of these, 345,000 (2.7%, uncertainty range: 269,000–420,000) were estimated to have moderate or severe neurodevelopmental impairment, and a further 567,000 (4.4%, (445,000–732,000)) were estimated to have mild neurodevelopmental impairment. Many more have specific learning or behavioral impairments or reduced physical or mental health. Fewest data are available where the burden is heaviest. Preterm birth was responsible for 77 million DALYs, 3.1% of the global total, of which only 3 million were YLDs. Conclusion: Most preterm births (>90%) survive without neurodevelopmental impairment. Developing effective means of prevention of preterm birth should be a longer term priority, but major burden reduction could be made immediately with improved coverage and quality of care. Improved newborn care would reduce mortality, especially in low-income countries and is likely to reduce impairment in survivors, particularly in middle-income settings. PMID:24366461

  12. Maternal obesity affects fetal neurodevelopmental and metabolic gene expression: a pilot study.

    Directory of Open Access Journals (Sweden)

    Andrea G Edlow

    Full Text Available OBJECTIVE: One in three pregnant women in the United States is obese. Their offspring are at increased risk for neurodevelopmental and metabolic morbidity. Underlying molecular mechanisms are poorly understood. We performed a global gene expression analysis of mid-trimester amniotic fluid cell-free fetal RNA in obese versus lean pregnant women. METHODS: This prospective pilot study included eight obese (BMI≥30 and eight lean (BMI<25 women undergoing clinically indicated mid-trimester genetic amniocentesis. Subjects were matched for gestational age and fetal sex. Fetuses with abnormal karyotype or structural anomalies were excluded. Cell-free fetal RNA was extracted from amniotic fluid and hybridized to whole genome expression arrays. Genes significantly differentially regulated in 8/8 obese-lean pairs were identified using paired t-tests with the Benjamini-Hochberg correction (false discovery rate of <0.05. Biological interpretation was performed with Ingenuity Pathway Analysis and the BioGPS gene expression atlas. RESULTS: In fetuses of obese pregnant women, 205 genes were significantly differentially regulated. Apolipoprotein D, a gene highly expressed in the central nervous system and integral to lipid regulation, was the most up-regulated gene (9-fold. Apoptotic cell death was significantly down-regulated, particularly within nervous system pathways involving the cerebral cortex. Activation of the transcriptional regulators estrogen receptor, FOS, and STAT3 was predicted in fetuses of obese women, suggesting a pro-estrogenic, pro-inflammatory milieu. CONCLUSION: Maternal obesity affects fetal neurodevelopmental and metabolic gene expression as early as the second trimester. These findings may have implications for postnatal neurodevelopmental and metabolic abnormalities described in the offspring of obese women.

  13. Biological mechanisms associated with increased perseveration and hyperactivity in a genetic mouse model of neurodevelopmental disorder.

    Science.gov (United States)

    Trent, Simon; Dean, Rachel; Veit, Bonnie; Cassano, Tommaso; Bedse, Gaurav; Ojarikre, Obah A; Humby, Trevor; Davies, William

    2013-08-01

    Chromosomal deletions at Xp22.3 appear to influence vulnerability to the neurodevelopmental disorders attention deficit hyperactivity disorder (ADHD) and autism. 39,X(Y*)O mice, which lack the murine orthologue of the Xp22.3 ADHD candidate gene STS (encoding steroid sulfatase), exhibit behavioural phenotypes relevant to such disorders (e.g. hyperactivity), elevated hippocampal serotonin (5-HT) levels, and reduced serum levels of dehydroepiandrosterone (DHEA). Here we initially show that 39,X(Y*)O mice are also deficient for the recently-characterised murine orthologue of the Xp22.3 autism candidate gene ASMT (encoding acetylserotonin-O-methyltransferase). Subsequently, to specify potential behavioural correlates of elevated hippocampal 5-HT arising due to the genetic lesion, we compared 39,X(Y*)O MF1 mice to 40,XY MF1 mice on behavioural tasks taxing hippocampal and/or 5-HT function (a 'foraging' task, an object-location task, and the 1-choice serial reaction time task of impulsivity). Although Sts/Asmt deficiency did not influence foraging behaviour, reactivity to familiar objects in novel locations, or 'ability to wait', it did result in markedly increased response rates; these rates correlated with hippocampal 5-HT levels and are likely to index behavioural perseveration, a frequent feature of neurodevelopmental disorders. Additionally, we show that whilst there was no systematic relationship between serum DHEA levels and hippocampal 5-HT levels across 39,X(Y*)O and 40,XY mice, there was a significant inverse linear correlation between serum DHEA levels and activity. Our data suggest that deficiency for genes within Xp22.3 could influence core behavioural features of neurodevelopmental disorders via dissociable effects on hippocampal neurochemistry and steroid hormone levels, and that the mediating neurobiological mechanisms may be investigated in the 39,X(Y*)O model. Copyright © 2012 Elsevier Ltd. All rights reserved.

  14. with neurodevelopmental

    African Journals Online (AJOL)

    clumsiness, mixed dominance or a specific learning disability. They correlated developmental milestones with seven levels of brainstem and cortical function and postulated that a block at any one of these levels precludes development of functions controlled by higher levels. This is caused by an interruption in the sensory ...

  15. Intragenic deletion of RBFOX1 associated with neurodevelopmental/neuropsychiatric disorders and possibly other clinical presentations

    Science.gov (United States)

    2013-01-01

    Background RBFOX1 is an important splicing factor regulating developmental and tissue-specific alternative splicing in heart, muscle, and neuronal tissues. Constitutional genetic defects in RBFOX1 are implicated in multiple medical conditions. Results We identified 14 copy number variants (CNV) involving RBFOX1 from 2,124 consecutive pediatric patients referred for chromosomal microarray analysis (CMA), including 13 intragenic deletions and a single intragenic duplication. The clinical significances of the intragenic deletions of RBFOX1 were evaluated. Conclusions Our data strongly supports the associations of intragenic deletions of RBFOX1 with a diversity of neurodevelopmental and neuropsychiatric disorders, and possibly other clinical features. PMID:23822903

  16. Treatments and services for neurodevelopmental disorders on advocacy websites: Information or evaluation?

    DEFF Research Database (Denmark)

    Di Pietro, Nina C; Whiteley, Louise Emma; Illes, Judy

    2011-01-01

    The Internet has quickly gained popularity as a major source of health-related information, but its impact is unclear. Here, we investigate the extent to which advocacy websites for three neurodevelopmental disorders—cerebral palsy (CP), autism spectrum disorder (ASD) and fetal alcohol spectrum...... disorder (FASD)—inform stakeholders about treatment options, and discuss the ethical challenges inherent in providing such information online. We identified major advocacy websites for each disorder and assessed website accountability, the number, attributes, and accessibility of treatments described...

  17. Elevated titanium levels in Iraqi children with neurodevelopmental disorders echo findings in occupation soldiers.

    Science.gov (United States)

    Savabieasfahani, M; Alaani, S; Tafash, M; Dastgiri, S; Al-Sabbak, M

    2015-01-01

    Anthropogenic release of pollutants into the environment is especially harmful to growing fetuses and young children. These populations are at an increased risk of damage because exposure to pollutants during critical periods of development can cause many impairments. Children's exposure to mixtures of metals could be responsible for the rising numbers of neurological disorders surfacing in Iraqi children. Titanium (Ti) and magnesium (Mg) are heavily used in war industries. Exposure to Ti and Mg has been linked to the dust in occupation soldiers' lungs. Hair samples of children in Hawija, Iraq (n = 13) contained significantly higher levels of Ti compared to Iranian children (n = 13) living near the Iraqi border (2080 ± 940 vs 707 ± 421 μg/kg, p children compared to Iranian children (115,763 ± 118,155 vs 67,650 ± 46,729 μg/kg). In samples from Hawija, Ti was 1.3 times higher in children with neurodevelopmental disorders (2198 ± 1108 vs 1942 ± 779 μg/kg), and Mg was 1.9 times higher in children without neurodevelopmental disorders (155,618 ± 140,791 vs 81,602 ± 91,940 μg/kg). Lead, arsenic, and cadmium in Hawija children with neurodevelopmental disorders (n = 6) were 2.5, 2.2, and 1.37 times higher compared to non-disabled children (n = 7). To get a clear understanding of the current status of neurodevelopmental disorders in Iraqi children and to determine the magnitude of this suspected global health issue, registries should be set up to compile and aggregate data from hospitals, clinics, and health centers across the country. Functional registries can develop collaborations with researchers toward finding causes of these disorders in Iraqi children and toward preventing them.

  18. PPREMO: a prospective cohort study of preterm infant brain structure and function to predict neurodevelopmental outcome.

    Science.gov (United States)

    George, Joanne M; Boyd, Roslyn N; Colditz, Paul B; Rose, Stephen E; Pannek, Kerstin; Fripp, Jurgen; Lingwood, Barbara E; Lai, Melissa M; Kong, Annice H T; Ware, Robert S; Coulthard, Alan; Finn, Christine M; Bandaranayake, Sasaka E

    2015-09-16

    More than 50 percent of all infants born very preterm will experience significant motor and cognitive impairment. Provision of early intervention is dependent upon accurate, early identification of infants at risk of adverse outcomes. Magnetic resonance imaging at term equivalent age combined with General Movements assessment at 12 weeks corrected age is currently the most accurate method for early prediction of cerebral palsy at 12 months corrected age. To date no studies have compared the use of earlier magnetic resonance imaging combined with neuromotor and neurobehavioural assessments (at 30 weeks postmenstrual age) to predict later motor and neurodevelopmental outcomes including cerebral palsy (at 12-24 months corrected age). This study aims to investigate i) the relationship between earlier brain imaging and neuromotor/neurobehavioural assessments at 30 and 40 weeks postmenstrual age, and ii) their ability to predict motor and neurodevelopmental outcomes at 3 and 12 months corrected age. This prospective cohort study will recruit 80 preterm infants born ≤ 30 week's gestation and a reference group of 20 healthy term born infants from the Royal Brisbane & Women's Hospital in Brisbane, Australia. Infants will undergo brain magnetic resonance imaging at approximately 30 and 40 weeks postmenstrual age to develop our understanding of very early brain structure at 30 weeks and maturation that occurs between 30 and 40 weeks postmenstrual age. A combination of neurological (Hammersmith Neonatal Neurologic Examination), neuromotor (General Movements, Test of Infant Motor Performance), neurobehavioural (NICU Network Neurobehavioural Scale, Premie-Neuro) and visual assessments will be performed at 30 and 40 weeks postmenstrual age to improve our understanding of the relationship between brain structure and function. These data will be compared to motor assessments at 12 weeks corrected age and motor and neurodevelopmental outcomes at 12 months corrected age

  19. Ensuring protection for LGBTI Persons of Concern

    Directory of Open Access Journals (Sweden)

    Volker Türk

    2013-04-01

    Full Text Available Lesbian, gay, bisexual, transgender and intersex (LGBTI asylumseekers and refugees face a myriad of threats, risks and vulnerabilitiesthroughout all stages of the displacement cycle. There needs to begreater awareness not only of the specific protection concerns relatingto LGBTI individuals but also of related jurisprudence and guidanceavailable for UN staff, partners, state authorities and decision-makers.

  20. Behavior Analytic Consultation for Academic Referral Concerns

    Science.gov (United States)

    Dufrene, Brad A.; Zoder-Martell, Kimberly A.; Dieringe, Shannon Titus; Labrot, Zachary

    2016-01-01

    Applied behavior analysis provides a technology of human behavior that demonstrates great potential for improving socially important outcomes for individuals. School-based consultation may provide a vehicle for delivering applied behavior analysis services in schools to address academic referral concerns. In this article, we propose that…

  1. Lead toxicity: Current concerns

    Energy Technology Data Exchange (ETDEWEB)

    Goyer, R.A. (Univ. of Western Ontario, London (Canada))

    1993-04-01

    Over the 20-year period since the first issue of Environmental Health Perspectives was published, there has been considerable progress in the understanding of the potential toxicity of exposure to lead. Many of these advances have been reviewed in published symposia, conferences, and review papers in EHP. This brief review identifies major advances as well as a number of current concerns that present opportunities for prevention and intervention strategies. The major scientific advance has been the demonstration that blood lead (PbB) levels of 10-15 micrograms/dL in newborn and very young infants result in cognitive and behavioral deficits. Further support for this observation is being obtained by prospective or longitudinal studies presently in progress. The mechanism(s) for the central nervous system effects of lead is unclear but involve lead interactions within calcium-mediated intracellular messenger systems and neurotransmission. Effects of low-level lead exposure on blood pressure, particularly in adult men, may be related to the effect of lead on calcium-mediated control of vascular smooth muscle contraction and on the renin-angiotensin system. Reproductive effects of lead have long been suspected, but low-level effects have not been well studied. Whether lead is a carcinogen or its association with renal adenocarcinoma is a consequence of cystic nephropathy is uncertain. Major risk factors for lead toxicity in children in the United States include nutrition, particularly deficiencies of essential metals, calcium, iron, and zinc, and housing and socioeconomic status. A goal for the year 2000 is to reduce prevalence of blood lead levels exceeding 15 micrograms/dL. 97 refs.

  2. Development of the body image concern inventory.

    Science.gov (United States)

    Littleton, Heather L; Axsom, Danny; Pury, Cynthia L S

    2005-02-01

    Development of the Body Image Concern Inventory (BICI), a measure designed to assess dysmorphic concern, is described. A panel of expert raters supported the construct validity of the measure, and four college student samples (Ns=184, 200, 56, 40) supported the internal consistency of the BICI. In addition, in studies 1 and 3, concurrent validity was established through comparison of the BICI to extant self-report and interview measures of dysmorphic symptomatology. Convergent validity patterns were assessed through comparison with measures of obsessive-compulsive and eating disorder symptomatology in studies 2 and 4. Finally, the results of study 4 supported that the BICI discriminated individuals with a diagnosis of Body Dysmorphic Disorder or bulimia (disorders that frequently involve high levels of dysmorphic concern) from those with subclinical symptoms. Results suggest that the BICI is a reliable, valid, and user-friendly tool for assessing dysmorphic concern, with utility in both research and clinical settings.

  3. On the Determinants of Terrorism Risk Concern in Europe

    OpenAIRE

    Drakos, Konstantinos; Müller, Cathérine

    2010-01-01

    We investigate whether differences in terrorism risk are mirrored on terrorism risk concern across European countries for the period 2003-2007. We find that the average propensity for terrorism risk concern is indeed affected by actual risk levels. Furthermore, country and individual heterogeneity contribute substantially to the variation of observed risk concern. According to our findings, males, singles and individuals with white collar jobs are less likely to mention terrorism as one of th...

  4. Motor Abnormalities: From Neurodevelopmental to Neurodegenerative Through "Functional" (Neuro)Psychiatric Disorders.

    Science.gov (United States)

    Peralta, Victor; Cuesta, Manuel J

    2017-09-01

    Motor abnormalities (MAs) of severe mental disorders have been traditionally neglected both in clinical practice and research, although they are an increasing focus of attention because of their clinical and neurobiological relevance. For historical reasons, most of the literature on MAs has been focused to a great extent on schizophrenia, and as a consequence their prevalence and featural properties in other psychiatric or neuropsychiatric disorders are poorly known. In this article, we evaluated the extent to which catatonic, extrapyramidal and neurological soft signs, and their associated clinical features, are present transdiagnostically. We examined motor-related features in neurodevelopmental (schizophrenia, obsessive compulsive disorder, autism spectrum disorders), "functional" (nonschizophrenic nonaffective psychoses, mood disorders) and neurodegenerative (Alzheimer's disease) disorders. Examination of the literature revealed that there have been very few comparisons of motor-related features across diagnoses and we had to rely mainly in disorder-specific studies to compare it transdiagnostically. One or more motor domains had a substantial prevalence in all the diagnoses examined. In "functional" disorders, MAs, and particularly catatonic signs, appear to be markers of episode severity; in chronic disorders, although with different degree of strength or evidence, all motor domains are indicators of both disorder severity and poor outcome; lastly, in Alzheimer's disease they are also indicators of disorder progression. MAs appear to represent a true transdiagnostic domain putatively sharing neurobiological mechanisms of neurodevelopmental, functional or neurodegenerative origin.

  5. Social cognition and neural substrates of face perception: implications for neurodevelopmental and neuropsychiatric disorders.

    Science.gov (United States)

    Lazar, Steven M; Evans, David W; Myers, Scott M; Moreno-De Luca, Andres; Moore, Gregory J

    2014-04-15

    Social cognition is an important aspect of social behavior in humans. Social cognitive deficits are associated with neurodevelopmental and neuropsychiatric disorders. In this study we examine the neural substrates of social cognition and face processing in a group of healthy young adults to examine the neural substrates of social cognition. Fifty-seven undergraduates completed a battery of social cognition tasks and were assessed with electroencephalography (EEG) during a face-perception task. A subset (N=22) were administered a face-perception task during functional magnetic resonance imaging. Variance in the N170 EEG was predicted by social attribution performance and by a quantitative measure of empathy. Neurally, face processing was more bilateral in females than in males. Variance in fMRI voxel count in the face-sensitive fusiform gyrus was predicted by quantitative measures of social behavior, including the Social Responsiveness Scale (SRS) and the Empathizing Quotient. When measured as a quantitative trait, social behaviors in typical and pathological populations share common neural pathways. The results highlight the importance of viewing neurodevelopmental and neuropsychiatric disorders as spectrum phenomena that may be informed by studies of the normal distribution of relevant traits in the general population. Copyright © 2014 Elsevier B.V. All rights reserved.

  6. Examining and comparing social perception abilities across childhood-onset neurodevelopmental disorders.

    Science.gov (United States)

    Baribeau, Danielle A; Doyle-Thomas, Krissy A R; Dupuis, Annie; Iaboni, Alana; Crosbie, Jennifer; McGinn, Holly; Arnold, Paul D; Brian, Jessica; Kushki, Azadeh; Nicolson, Rob; Schachar, Russell J; Soreni, Noam; Szatmari, Peter; Anagnostou, Evdokia

    2015-06-01

    Several neurodevelopmental disorders are associated with social processing deficits. The objective of this study was to compare patterns of social perception abilities across obsessive-compulsive disorder (OCD), attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and control participants. A total of 265 children completed the Reading the Mind in the Eyes Test-Child Version (RMET). Parents or caregivers completed established trait/symptom scales. The predicted percentage of accuracy on the RMET was compared across disorders and by item difficulty and item valence (i.e., positive/negative/neutral mental states), then analyzed for associations with trait/symptom scores. The percentage of correct RMET scores varied significantly between diagnostic groups (p social communication impairment and hyperactivity/impulsivity, but not OCD traits/symptoms, were associated with lower scores on the RMET, irrespective of diagnosis. Social perception abilities in neurodevelopmental disorders exist along a continuum. Children with ASD have the greatest deficits, whereas children with OCD may be hypersensitive to social information. Social communication deficits and hyperactive/impulsive traits are associated with impaired social perception abilities; these findings highlight overlapping cognitive and behavioral manifestations across disorders. Copyright © 2015 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.

  7. The effect of kangaroo care on neurodevelopmental outcomes in preterm infants.

    Science.gov (United States)

    Head, Lauren M

    2014-01-01

    Preterm birth is associated with long-term deficits in executive functioning and cognitive performance. As advances in neonatal care enable more preterm infants to survive, development of strategies to address high rates of neurodevelopmental disabilities and poor academic achievement in preterm infants are crucial. Evidence suggests that infants' brains are plastic in nature and, therefore, can be shaped by the environment. Kangaroo care has become popularized as a means of modifying the stress of the NICU environment. However, few studies have examined whether kangaroo care affects neurodevelopmental outcomes in preterm infants. This review examined available literature that investigated the effect of kangaroo care on cognition in preterm infants. Current evidence suggests that short-term benefits of kangaroo care are associated with improved neurodevelopment. However, few studies have examined the long-term impact of kangaroo care on cognitive outcomes in preterm infants. To address neurological disparities in children born preterm, research using kangaroo care as a strategy to improve neurodevelopment in preterm infants is warranted.

  8. Tourette Syndrome and Learning Disabilities: a focus on correlations in a neurodevelopmental perspective

    Directory of Open Access Journals (Sweden)

    Brambilla Emma

    2016-04-01

    Full Text Available People with Tourette Syndrome (TS frequently show the presence of Learning Disabilities (LD at school age. Literature investigating the correlation between TS and LD is limited: studies focus on the incidence of this correlation, the impact on school achievement and the number of fields affected by these difficulties, show neuropsychological diseases in comorbility and reveal a discrepancy between IQ scores and school results. The most important evidence shows that in some children the appearance of LD and tics coincide. In a neurodevelopmental approach, the origin of both symptoms, TS and LD, can be explained observing the nervous system’s maturation process, through specific steps, which lead to the acquisition of visual, aural and tactile competence, and allow the development of mobility, language and manual ability. As they all develop along a continuum, neurodevelopmental levels that have not been completed always imply neuro-functional anomalies, which can be observed with brain-imaging techniques. Investigating this correlation in a neuropsychological perspective would be useful not only to better understand the underlying functional aspects, but also to properly plan good rehabilitation strategies to apply in everyday clinical practice.

  9. Microglial Intracellular Ca2+ Signaling in Synaptic Development and its Alterations in Neurodevelopmental Disorders.

    Science.gov (United States)

    Mizoguchi, Yoshito; Monji, Akira

    2017-01-01

    Autism spectrum disorders (ASDs) are neurodevelopmental disorders characterized by deficits in social interaction, difficulties with language and repetitive/restricted behaviors. Microglia are resident innate immune cells which release many factors including proinflammatory cytokines, nitric oxide (NO) and brain-derived neurotrophic factor (BDNF) when they are activated in response to immunological stimuli. Recent in vivo imaging has shown that microglia sculpt and refine the synaptic circuitry by removing excess and unwanted synapses and be involved in the development of neural circuits or synaptic plasticity thereby maintaining the brain homeostasis. BDNF, one of the neurotrophins, has various important roles in cell survival, neurite outgrowth, neuronal differentiation, synaptic plasticity and the maintenance of neural circuits in the CNS. Intracellular Ca2+ signaling is important for microglial functions including ramification, de-ramification, migration, phagocytosis and release of cytokines, NO and BDNF. BDNF induces a sustained intracellular Ca2+ elevation through the upregulation of the surface expression of canonical transient receptor potential 3 (TRPC3) channels in rodent microglia. BDNF might have an anti-inflammatory effect through the inhibition of microglial activation and TRPC3 could play important roles in not only inflammatory processes but also formation of synapse through the modulation of microglial phagocytic activity in the brain. This review article summarizes recent findings on emerging dual, inflammatory and non-inflammatory, roles of microglia in the brain and reinforces the importance of intracellular Ca2+ signaling for microglial functions in both normal neurodevelopment and their potential contributing to neurodevelopmental disorders such as ASDs.

  10. Effects of methylmercury and alcohol exposure in Drosophila melanogaster: Potential risks in neurodevelopmental disorders.

    Science.gov (United States)

    Chauhan, Ved; Chauhan, Abha

    2016-06-01

    Extensive evidence suggests the role of oxidative stress in autism and other neurodevelopmental disorders. In this study, we investigated whether methylmercury (MeHg) and/or alcohol exposure has deleterious effects in Drosophila melanogaster (fruit flies). A diet containing different concentrations of MeHg in Drosophila induced free radical generation and increased lipid peroxidation (markers of oxidative stress) in a dose-dependent manner. This effect of MeHg on oxidative stress was enhanced by further exposure to alcohol. It was observed that alcohol alone could also induce free radical generation in flies. After alcohol exposure, MeHg did not affect the immobilization of flies, but it increased the recovery time in a concentration-dependent manner. MeHg significantly inhibited the activity of alcohol dehydrogenase (ADH) in a dose-dependent manner. Linear regression analysis showed a significant negative correlation between ADH activity and recovery time upon alcohol exposure in the flies fed a diet with MeHg. This relationship between ADH activity and recovery time after alcohol exposure was confirmed by adding 4-methyl pyrazole (an inhibitor of ADH) to the diet for the flies. These results suggest that consumption of alcohol by pregnant mothers who are exposed to MeHg may lead to increased oxidative stress and to increased length of time for alcohol clearance, which may have a direct impact on the development of the fetus, thereby increasing the risk of neurodevelopmental disorders. Published by Elsevier Ltd.

  11. Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings

    Directory of Open Access Journals (Sweden)

    Dichter Gabriel S

    2012-07-01

    Full Text Available Abstract This review summarizes evidence of dysregulated reward circuitry function in a range of neurodevelopmental and psychiatric disorders and genetic syndromes. First, the contribution of identifying a core mechanistic process across disparate disorders to disease classification is discussed, followed by a review of the neurobiology of reward circuitry. We next consider preclinical animal models and clinical evidence of reward-pathway dysfunction in a range of disorders, including psychiatric disorders (i.e., substance-use disorders, affective disorders, eating disorders, and obsessive compulsive disorders, neurodevelopmental disorders (i.e., schizophrenia, attention-deficit/hyperactivity disorder, autism spectrum disorders, Tourette’s syndrome, conduct disorder/oppositional defiant disorder, and genetic syndromes (i.e., Fragile X syndrome, Prader–Willi syndrome, Williams syndrome, Angelman syndrome, and Rett syndrome. We also provide brief overviews of effective psychopharmacologic agents that have an effect on the dopamine system in these disorders. This review concludes with methodological considerations for future research designed to more clearly probe reward-circuitry dysfunction, with the ultimate goal of improved intervention strategies.

  12. Neurodevelopmental variability in three young girls with a rare chromosomal disorder, 48, XXXX.

    Science.gov (United States)

    Samango-Sprouse, Carole; Keen, Colleen; Mitchell, Francie; Sadeghin, Teresa; Gropman, Andrea

    2015-10-01

    Fourty eight, XXXX is a rare chromosomal aneuploidy associated with neurocognitive deficits, speech and language disorders and executive dysfunction but the scarcity and variability of reported cases limit our understanding of the 48, XXXX phenotype. To our knowledge, this is the first study to report on the neurodevelopmental profile of three young females with 48, XXXX. Patient 1 (age = 11.0), Patient 2 (age = 10.9), and Patient 3 (age = 6.4) were evaluated using comprehensive neurodevelopmental assessments. Parent questionnaires were completed to assess behavioral and psychosocial domains including executive function, ADHD and anxiety. Nonverbal intelligence quotients were 56, 80, and 91 for Patients 1, 2, and 3, respectively. There were significantly impaired visual motor capacities in graphomotor and perceptual domains below the 5th centile in Patients 1 and 2, and mildly impaired visual perception skills in Patient 3. All three patients had Childhood Apraxia of Speech (CAS) but of varying severity and similar executive dysfunction, externalizing problems and social difficulties. Familial learning disabilities (FLD) in Patient 1 and the co-occurrence of ADHD in Patient's 1 and 2 may contribute to their more impaired cognitive performances relative to Patient 3 who is the second reported case of 48, XXXX to have normal intellect. These distinct and overlapping characteristics expand the phenotypic profile of 48, XXXX and may be used in the counseling of families and treatment of children with 48, XXXX. © 2015 Wiley Periodicals, Inc.

  13. Gluten Intolerance and Neurodevelopmental Disorders: Is Nitric Oxide the Common Biomarker Linking These Conditions?

    Science.gov (United States)

    Fluegge, Keith

    2016-01-01

    Cruchet et al. attempt to tease out the myths and facts surrounding the growing popularity of certain dietary approaches in the management of neurodevelopmental disorders, like attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorders (ASDs). The authors identify a particular exclusionary-type approach that seeks to eliminate dietary gluten. Although the relationship between celiac disease (CD) and ADHD/ASD is not well established, a repeated clinical feature noted in CD is the elevated levels of nitric oxide in serum and urine. Elevated oxidative stress has also been observed in neurodevelopmental conditions, and the author of this correspondence has been the first to propose that chronic, environmental exposure to the air pollutant, nitrous oxide may contribute to these oxidative stress profiles through neural cholinergic perturbation. Therefore, the purpose of this correspondence is to highlight this biochemical connection between these conditions so as to identify the clinical populations who may realize the greatest benefit of these dietary approaches, while minimizing any potential risk of nutrient deficiencies. © 2016 S. Karger AG, Basel.

  14. Prevalence and comorbidities of autism among children referred to the outpatient clinics for neurodevelopmental disorders.

    Science.gov (United States)

    Mpaka, Davin Mbeya; Okitundu, Daniel Luwa E-Andjafono; Ndjukendi, Ally Omba; N'situ, Adelin Mankubu; Kinsala, Sebastien Yabassi; Mukau, Joachim Ebwel; Ngoma, Valentin Malanda; Kashala-Abotnes, Espérance; Ma-Miezi-Mampunza, Samuel; Vogels, Annick; Steyaert, Jeans

    2016-01-01

    Autism spectrum disorders (ASD) is a neurodevelopmental disorder that has been rarely diagnosed in Sub-Saharan Africa. Although a proportion of children do present features of ASD in the Democratic Republic of Congo (DRC), little is known about it prevalence. Often, the co-morbidities constitute the upfront symptoms and therefore may it recognition and management difficult, aggravating as such the prognosis. The present study therefore aimed at studying the clinical profile of autism spectrum disorder (ASD) and the associated morbidities among children and adolescents in outpatient clinics in Kinshasa, the Democratic Republic of Congo. We conducted a cross sectional study in the three outpatients centers receiving patients referred for neurodevelopmental disorders in Kinshasa, DRC, from June 2008 to June 2010. A total of 450 subjects aged from 1-18 years old were referred and included in the study. The clinical diagnosis for ASD was made using the DSM-IV-R and the ADIR. Co-morbidities were identified using DSM-IV-R criteria together with an extensive clinical interview and observation. All patients were subject to an intellectual quotient evaluation and an electroencephalogram reporting. Of the 450 subjects referred, 120 (29.3%) received the diagnosis of ASD, with boys outnumbering girls (OR 3:1. The mean age was 7.9 years (SD 3.4) (psociety in Kinshasa DRC. This will help to identify and manage ASD and associated co-morbidities at an early stage for a better prognosis.

  15. Rapamycin prevents seizures after depletion of STRADA in a rare neurodevelopmental disorder.

    Science.gov (United States)

    Parker, Whitney E; Orlova, Ksenia A; Parker, William H; Birnbaum, Jacqueline F; Krymskaya, Vera P; Goncharov, Dmitry A; Baybis, Marianna; Helfferich, Jelte; Okochi, Kei; Strauss, Kevin A; Crino, Peter B

    2013-04-24

    A rare neurodevelopmental disorder in the Old Order Mennonite population called PMSE (polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome; also called Pretzel syndrome) is characterized by infantile-onset epilepsy, neurocognitive delay, craniofacial dysmorphism, and histopathological evidence of heterotopic neurons in subcortical white matter and subependymal regions. PMSE is caused by a homozygous deletion of exons 9 to 13 of the LYK5/STRADA gene, which encodes the pseudokinase STRADA, an upstream inhibitor of mammalian target of rapamycin complex 1 (mTORC1). We show that disrupted pathfinding in migrating mouse neural progenitor cells in vitro caused by STRADA depletion is prevented by mTORC1 inhibition with rapamycin or inhibition of its downstream effector p70 S6 kinase (p70S6K) with the drug PF-4708671 (p70S6Ki). We demonstrate that rapamycin can rescue aberrant cortical lamination and heterotopia associated with STRADA depletion in the mouse cerebral cortex. Constitutive mTORC1 signaling and a migration defect observed in fibroblasts from patients with PMSE were also prevented by mTORC1 inhibition. On the basis of these preclinical findings, we treated five PMSE patients with sirolimus (rapamycin) without complication and observed a reduction in seizure frequency and an improvement in receptive language. Our findings demonstrate a mechanistic link between STRADA loss and mTORC1 hyperactivity in PMSE, and suggest that mTORC1 inhibition may be a potential treatment for PMSE as well as other mTOR-associated neurodevelopmental disorders.

  16. Chronic vortioxetine treatment in rodents modulates gene expression of neurodevelopmental and plasticity markers.

    Science.gov (United States)

    Waller, Jessica A; Tamm, Joseph A; Abdourahman, Aicha; Pehrson, Alan L; Li, Yan; Cajina, Manuel; Sánchez, Connie

    2017-02-01

    The multimodal antidepressant vortioxetine displays an antidepressant profile distinct from those of conventional selective serotonin reuptake inhibitors (SSRIs) and serotonin-norepinephrine reuptake inhibitors (SNRIs) and possesses cognitive-enhancing properties in preclinical and clinical studies. Recent studies have begun to investigate molecular mechanisms that may differentiate vortioxetine from other antidepressants. Acute studies in adult rats and chronic studies in a middle-aged mouse model reveal upregulation of several markers that play a central role in synaptic plasticity. However, the effect of chronic vortioxetine treatment on expression of neuroplasticity and neurodevelopmental biomarkers in naïve rats has not been evaluated. In the present study, we demonstrate that vortioxetine at a range of doses regulates expression of genes associated with plasticity in the frontal cortex, hippocampus, region encompassing the amygdala, as well as in blood, and displays similar effects relative to the SSRI fluoxetine in adult naïve rats. These genes encode immediate early genes (IEGs), translational regulators, and the neurodevelopmental marker Sema4g. Similar findings detected in brain regions and in blood provide a potential translational impact, and vortioxetine appears to consistently regulate signaling in these networks of neuroplasticity and developmental markers. Copyright © 2016 Elsevier B.V. and ECNP. All rights reserved.

  17. Stabilizing autism: A Fleckian account of the rise of a neurodevelopmental spectrum disorder.

    Science.gov (United States)

    Verhoeff, Berend

    2014-06-01

    Using the conceptual tools of philosopher of science Ludwik Fleck, I argue that the reframing of autism as a neurodevelopmental spectrum disorder is constrained by two governing 'styles of thought' of contemporary psychiatry. The first is the historically conditioned 'readiness for directed perception' of, and thinking in terms of, ontologically distinct diseases. The clinical gaze of mental health professionals, the bureaucratic needs of health administration, the clinical and scientific utility of disease categories, and the practices of autism-oriented advocacy groups all imply a bias toward thinking about autism and related disorders as ontologically distinct psychiatric and scientific entities. Second, within the 'neuromolecular style of thought', mental disorders are more and more located at the neurobiological levels of the brain. In autism research, one of the biggest challenges is the identification of autism's neurobiological singularity. However, at a moment when biological and categorical approaches toward autism face serious empirical difficulties, a balance is established that holds together these two styles of thought. With a need to account for some of the most persistent uncertainties and conflicts in autism research, namely ubiquitous heterogeneity and a failure to identify disease specific biomarkers, the reframing of autism as a neurodevelopmental spectrum disorder satisfies the scientific, institutional and socio-political needs for stability and homogenization. Copyright © 2014 Elsevier Ltd. All rights reserved.

  18. "Selfish spermatogonial selection": a novel mechanism for the association between advanced paternal age and neurodevelopmental disorders.

    Science.gov (United States)

    Goriely, Anne; McGrath, John J; Hultman, Christina M; Wilkie, Andrew O M; Malaspina, Dolores

    2013-06-01

    There is robust evidence from epidemiological studies that the offspring of older fathers have an increased risk of neurodevelopmental disorders, such as schizophrenia and autism. The authors present a novel mechanism that may contribute to this association. Because the male germ cell undergoes many more cell divisions across the reproductive age range, copy errors taking place in the paternal germline are associated with de novo mutations in the offspring of older men. Recently it has been recognized that somatic mutations in male germ cells that modify proliferation through dysregulation of the RAS protein pathway can lead to within-testis expansion of mutant clonal lines. First identified in association with rare disorders related to paternal age (e.g., Apert syndrome, achondroplasia), this process is known as "selfish spermatogonial selection." This mechanism favors propagation of germ cells carrying pathogenic mutations, increasingly skews the mutational profile of sperm as men age, and enriches de novo mutations in the offspring of older fathers that preferentially affect specific cellular signaling pathways. This mechanism not only offers a parsimonious explanation for the association between advanced paternal age and various neurodevelopmental disorders but also provides insights into the genetic architecture (role of de novo mutations), neurobiological correlates (altered cell cycle), and some epidemiological features of these disorders. The authors outline hypotheses to test this model. Given the secular changes for delayed parenthood in most societies, this hypothesis has important public health implications.

  19. Dermatoglyphics--a possible biomarker in the neurodevelopmental model for the origin of mental disorders.

    Science.gov (United States)

    Ahmed-Popova, Ferihan M; Mantarkov, Mladen J; Sivkov, Stefan T; Akabaliev, Valentin H

    2014-01-01

    Dermatoglyphic pattern formation and differentiation are complex processes which have been in the focus of research interest ever since dermatoglyphics became a science. The patterns' early differentiation and genetic uniqueness as well as the relatively simple methods used to obtain and store fingerprints make it possible to study the relationship between certain dermatoglyphic characteristics and the underlying pathological processes in a number of diseases, including mental disorders. The present review reports published data from fundamental and clinical studies on dermatoglyphics primarily in schizophrenia and bipolar disorder to lend additional support for the neurodevelopmental hypothesis in the etiology of these disorders. Following an analysis of the theories of dermatoglyphics formation and the complex association between ridge patterns and central nervous system in early embryogenesis, an attempt is made to present dermatoglyphics as possible biological markers of impaired neurodevelopment. The contradictory data in the literature on dermatoglyphics in mental disorders suggest the need for further studies on these biological markers in order to identify their place in the neurodevelopmental etiological model of these diseases.

  20. HIV-associated neurodevelopmental delay: prevalence, predictors and persistence in relation to antiretroviral therapy initiation and viral suppression.

    Science.gov (United States)

    Strehlau, R; Kuhn, L; Abrams, E J; Coovadia, A

    2016-11-01

    HIV infection in infancy may influence the developing brain, leading to adverse neurodevelopmental consequences. We aim to describe neurodevelopmental characteristics of a cohort of HIV-infected infants and young children prior to antiretroviral therapy (ART) initiation and after achieving viral suppression. As part of the Neverest 2 trial, 195 HIV-infected children under 2 years of age were assessed using the Ages and Stages Questionnaire (ASQ) prior to ART initiation and at subsequent age-appropriate time points after ART had been started. The ASQ is a simple screening questionnaire used to identify children at risk of neurodevelopmental delays. Questionnaires completed by the parent/caregiver assess neurodevelopmental functioning in five domains: communication, gross motor, fine motor, problem solving and personal-social. Median age pre-ART was 8.8 months (range 2.2-24.9) and 53.9% were male. Mean time to viral suppression was 9.4 months (range 5.9-14.5). Compared with pre-ART better outcomes were reported at time of viral suppression with a lower proportion of children failing the gross motor (31.5% vs. 13%, p = 0.0002), fine motor (21.3% vs. 10.2%, p = 0.017), problem solving (26.9% vs. 9.3%, p = 0.0003) and personal-social (19.6% vs. 7.4%, p = 0.019) domains. However, there was no change in the communication domain (14.8% vs. 12.0%, p = 0.6072). Although achieving viral suppression on ART resulted in significant improvements in markers of neurodevelopmental function of young HIV-infected children, potential neurodevelopmental delays still persisted in a large proportion. Further interventions are needed to limit potential disabilities and maximize developmental outcomes. © 2016 John Wiley & Sons Ltd.

  1. Severity of Hyperacusis Predicts Individual Differences in Speech Perception in Williams Syndrome

    Science.gov (United States)

    Elsabbagh, M.; Cohen, H.; Cohen, M.; Rosen, S.; Karmiloff-Smith, A.

    2011-01-01

    Background: Williams Syndrome (WS) is a neurodevelopmental disorder of genetic origin, characterised by relative proficiency in language in the face of serious impairment in several other domains. Individuals with WS display an unusual sensitivity to noise, known as hyperacusis. Methods: In this study, we examined the extent to which hyperacusis…

  2. Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.

    Science.gov (United States)

    Sollis, Elliot; Graham, Sarah A; Vino, Arianna; Froehlich, Henning; Vreeburg, Maaike; Dimitropoulou, Danai; Gilissen, Christian; Pfundt, Rolph; Rappold, Gudrun A; Brunner, Han G; Deriziotis, Pelagia; Fisher, Simon E

    2016-02-01

    De novo disruptions of the neural transcription factor FOXP1 are a recently discovered, rare cause of sporadic intellectual disability (ID). We report three new cases of FOXP1-related disorder identified through clinical whole-exome sequencing. Detailed phenotypic assessment confirmed that global developmental delay, autistic features, speech/language deficits, hypotonia and mild dysmorphic features are core features of the disorder. We expand the phenotypic spectrum to include sensory integration disorder and hypertelorism. Notably, the etiological variants in these cases include two missense variants within the DNA-binding domain of FOXP1. Only one such variant has been reported previously. The third patient carries a stop-gain variant. We performed functional characterization of the three missense variants alongside our stop-gain and two previously described truncating/frameshift variants. All variants severely disrupted multiple aspects of protein function. Strikingly, the missense variants had similarly severe effects on protein function as the truncating/frameshift variants. Our findings indicate that a loss of transcriptional repression activity of FOXP1 underlies the neurodevelopmental phenotype in FOXP1-related disorder. Interestingly, the three novel variants retained the ability to interact with wild-type FOXP1, suggesting these variants could exert a dominant-negative effect by interfering with the normal FOXP1 protein. These variants also retained the ability to interact with FOXP2, a paralogous transcription factor disrupted in rare cases of speech and language disorder. Thus, speech/language deficits in these individuals might be worsened through deleterious effects on FOXP2 function. Our findings highlight that de novo FOXP1 variants are a cause of sporadic ID and emphasize the importance of this transcription factor in neurodevelopment. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email

  3. Gene set enrichment analysis and expression pattern exploration implicate an involvement of neurodevelopmental processes in bipolar disorder.

    Science.gov (United States)

    Mühleisen, Thomas W; Reinbold, Céline S; Forstner, Andreas J; Abramova, Lilia I; Alda, Martin; Babadjanova, Gulja; Bauer, Michael; Brennan, Paul; Chuchalin, Alexander; Cruceanu, Cristiana; Czerski, Piotr M; Degenhardt, Franziska; Fischer, Sascha B; Fullerton, Janice M; Gordon, Scott D; Grigoroiu-Serbanescu, Maria; Grof, Paul; Hauser, Joanna; Hautzinger, Martin; Herms, Stefan; Hoffmann, Per; Kammerer-Ciernioch, Jutta; Khusnutdinova, Elza; Kogevinas, Manolis; Krasnov, Valery; Lacour, André; Laprise, Catherine; Leber, Markus; Lissowska, Jolanta; Lucae, Susanne; Maaser, Anna; Maier, Wolfgang; Martin, Nicholas G; Mattheisen, Manuel; Mayoral, Fermin; McKay, James D; Medland, Sarah E; Mitchell, Philip B; Moebus, Susanne; Montgomery, Grant W; Müller-Myhsok, Bertram; Oruc, Lilijana; Pantelejeva, Galina; Pfennig, Andrea; Pojskic, Lejla; Polonikov, Alexey; Reif, Andreas; Rivas, Fabio; Rouleau, Guy A; Schenk, Lorena M; Schofield, Peter R; Schwarz, Markus; Streit, Fabian; Strohmaier, Jana; Szeszenia-Dabrowska, Neonila; Tiganov, Alexander S; Treutlein, Jens; Turecki, Gustavo; Vedder, Helmut; Witt, Stephanie H; Schulze, Thomas G; Rietschel, Marcella; Nöthen, Markus M; Cichon, Sven

    2018-03-01

    Bipolar disorder (BD) is a common and highly heritable disorder of mood. Genome-wide association studies (GWAS) have identified several independent susceptibility loci. In order to extract more biological information from GWAS data, multi-locus approaches represent powerful tools since they utilize knowledge about biological processes to integrate functional sets of genes at strongly to moderately associated loci. We conducted gene set enrichment analyses (GSEA) using 2.3 million single-nucleotide polymorphisms, 397 Reactome pathways and 24,025 patients with BD and controls. RNA expression of implicated individual genes and gene sets were examined in post-mortem brains across lifespan. Two pathways showed a significant enrichment after correction for multiple comparisons in the GSEA: GRB2 events in ERBB2 signaling, for which 6 of 21 genes were BD associated (P FDR = 0.0377), and NCAM signaling for neurite out-growth, for which 11 out of 62 genes were BD associated (P FDR = 0.0451). Most pathway genes showed peaks of RNA co-expression during fetal development and infancy and mapped to neocortical areas and parts of the limbic system. Pathway associations were technically reproduced by two methods, although they were not formally replicated in independent samples. Gene expression was explored in controls but not in patients. Pathway analysis in large GWAS data of BD and follow-up of gene expression patterns in healthy brains provide support for an involvement of neurodevelopmental processes in the etiology of this neuropsychiatric disease. Future studies are required to further evaluate the relevance of the implicated genes on pathway functioning and clinical aspects of BD. Copyright © 2017 Elsevier B.V. All rights reserved.

  4. Concerning video game concerns: A collective approach to conceptually inquiring into their empirical complexity

    DEFF Research Database (Denmark)

    Chimiri, Niklas Alexander; Andersen, Mads Lund; Jensen, Tine

    2017-01-01

    and conceptual development. The complexity of video game concerns, for instance in terms of their digital-analogue entanglements and how these co-enact the effects and meaning of violent video gaming, is neither conceptually debated nor of concern. In DGS, on the other hand, such specificities and entanglements......Concerning video game concerns: A collective approach to conceptually inquiring into their empirical complexity Niklas Alexander Chimirri, Mads Lund Andersen, Tine Jensen, Dorte Marie Søndergaard, Anders Wulff Abstract This paper suggests a collectively developed qualitative approach into inquiring...... and thereby shedding unexpected light on common concerns as expressed in psychological research on video gaming. For years, “The Video Game War” has been reproducing polarized debates on whether games are harmful or not. The search for universal knowledge and unequivocal answers to individual gaming behavior...

  5. Relationship between Proton Magnetic Resonance Spectroscopy of Frontoinsular Gray Matter and Neurodevelopmental Outcomes in Very Low Birth Weight Children at the Age of 4.

    Directory of Open Access Journals (Sweden)

    Wojciech Durlak

    Full Text Available Very low birth weight is associated with long term neurodevelopmental complications. Macroscopic brain abnormalities in prematurity survivors have been investigated in several studies. However, there is limited data regarding local cerebral metabolic status and neurodevelopmental outcomes. The purpose of this study was to characterize the relationship between proton magnetic resonance spectra in basal ganglia, frontal white matter and frontoinsular gray matter, neurodevelopmental outcomes assessed with the Leiter scale and the Developmental Test of Visual Perception and selected socioeconomic variables in a cohort of very low birth weight children at the age of four. Children were divided in three groups based on the severity of neurodevelopmental impairment. There were no differences in spectroscopy in basal ganglia and frontal white matter between the groups. Lower concentrations of N-acetylaspartate (NAA, choline (Cho and myoinositol (mI were observed in the frontoinsular cortex of the left hemisphere in children with neurodevelopmental impairment compared to children with normal neurodevelopmental outcomes. Higher parental education, daycare attendance and breastfeeding after birth were associated with more favorable neurodevelopmental prognosis, whereas rural residence was more prevalent in children with moderate and severe impairment. Our study demonstrates the role of long term neurometabolic disruption in the left frontoinsular cortex and selected socioeconomic variables in determination of neurodevelopmental prognosis in prematurity survivors.

  6. Dopamine ups and downs in vulnerability to addictions: a neurodevelopmental model.

    Science.gov (United States)

    Leyton, Marco; Vezina, Paul

    2014-06-01

    Addictions are commonly presaged by problems in childhood and adolescence. For many individuals this starts with the early expression of impulsive risk-taking, social gregariousness, and oppositional behaviors. Here we propose that these early diverse manifestations reflect a heightened ability of emotionally salient stimuli to activate dopamine pathways that foster behavioral approach. If substance use is initiated, these at-risk youth can also develop heightened responses to drug-paired cues. Through conditioning and drug-induced sensitization, these effects strengthen and accumulate, leading to responses that exceed those elicited by other rewards. At the same time, cues not paired with drug become associated with comparatively lower dopamine release, accentuating further the difference between drug and non-drug rewards. Together, these enhancing and inhibiting processes steer a pre-existing vulnerability toward a disproportionate concern for drugs and drug-related stimuli. Implications for prevention and treatment are discussed. Copyright © 2014 Elsevier Ltd. All rights reserved.

  7. Long-term neurodevelopmental outcome of monochorionic and matched dichorionic twins.

    Directory of Open Access Journals (Sweden)

    Karien E A Hack

    Full Text Available BACKGROUND: Monochorionic (MC twins are at increased risk for perinatal mortality and serious morbidity due to the presence of placental vascular anastomoses. Cerebral injury can be secondary to haemodynamic and hematological disorders during pregnancy (especially twin-to-twin transfusion syndrome (TTTS or intrauterine co-twin death or from postnatal injury associated with prematurity and low birth weight, common complications in twin pregnancies. We investigated neurodevelopmental outcome in MC and dichorionic (DC twins at the age of two years. METHODS: This was a prospective cohort study. Cerebral palsy (CP was studied in 182 MC infants and 189 DC infants matched for weight and age at delivery, gender, ethnicity of the mother and study center. After losses to follow-up, 282 of the 366 infants without CP were available to be tested with the Griffiths Mental Developmental Scales at 22 months corrected age, all born between January 2005 and January 2006 in nine perinatal centers in The Netherlands. Due to phenotypic (unalikeness in mono-or dizygosity, the principal investigator was not blinded to chorionic status; perinatal outcome, with exception of co-twin death, was not known to the examiner. FINDINGS: Four out of 182 MC infants had CP (2.2% - two of the four CP-cases were due to complications specific to MC twin pregnancies (TTTS and co-twin death and the other two cases of CP were the result of cystic PVL after preterm birth - compared to one sibling of a DC twin (0.5%; OR 4.2, 95% CI 0.5-38.2 of unknown origin. Follow-up rate of neurodevelopmental outcome by Griffith's test was 76%. The majority of 2-year-old twins had normal developmental status. There were no significant differences between MC and DC twins. One MC infant (0.7% had a developmental delay compared to 6 DC infants (4.2%; OR 0.2, 95% 0.0-1.4. Birth weight discordancy did not influence long-term outcome, though the smaller twin had slightly lower developmental scores than its

  8. Learning curve analyses in neurodevelopmental disorders: are children with autism spectrum disorder truly visual learners?

    Science.gov (United States)

    Erdődi, Lászlό; Lajiness-O'Neill, Renée; Schmitt, Thomas A

    2013-04-01

    Visual and auditory verbal learning using a selective reminding format was studied in a mixed clinical sample of children with autism spectrum disorder (ASD) (n = 42), attention-deficit hyperactivity disorder (n = 83), velocardiofacial syndrome (n = 17) and neurotypicals (n = 38) using the Test of Memory and Learning to (1) more thoroughly characterize and examine the integrity of learning and memory processes, (2) to better understand the mechanisms of learning impairment, and (3) to inform instructional practices in ASD. Contrary to expectations, children with ASD demonstrated a relative weakness in the rate of acquisition of visual in contrast to verbal learning compared to neurotypicals. They also showed a complex pattern of consolidation. Overall, between-group differences were more likely to emerge during the visual learning task, suggesting that it may be more sensitive for detecting neurodevelopmental differences. The heuristic value of assessing memory and learning across multiple trials and comparing performance during immediate and delayed recall is discussed.

  9. Effects of Cannabis on Neurocognitive Functioning: Recent Advances, Neurodevelopmental Influences, and Sex Differences

    Science.gov (United States)

    Crane, Natania A.; Schuster, Randi Melissa; Fusar-Poli, Paolo; Gonzalez, Raul

    2012-01-01

    Decades of research have examined the effects of cannabis on neurocognition. Recent advances in this field provide us with a better understanding of how cannabis use influences neurocognition both acutely (during intoxication) and non-acutely (after acute effects subside). Evidence of problems with episodic memory is one of the most consistent findings reported; however, several other neurocognitive domains appear to be adversely affected by cannabis use under various conditions. There is significant variability in findings across studies, thus a discussion of potential moderators is increasingly relevant. The purpose of this review was to 1) provide an update on research of cannabis’ acute and non-acute effects on neurocognition, with a focus on findings since 2007 and 2) suggest and discuss how neurodevelopmental issues and sex differences may influence cannabis effects on neurocognition. Finally we discuss how future investigations may lead to better understanding of the complex interplay among cannabis, stages of neurodevelopment, and sex on neurocognitive functioning. PMID:23129391

  10. Both Low Blood Glucose and Insufficient Treatment Confer Risk of Neurodevelopmental Impairment in Congenital Hyperinsulinism

    DEFF Research Database (Denmark)

    Rasmussen, Annett Helleskov; Melikyan, Maria; Globa, Evgenia

    2017-01-01

    BACKGROUND/AIMS: Congenital hyperinsulinism (CHI) is a heterogeneous disease most frequently caused by KATP-channel (ABCC8 and KCNJ11) mutations, with neonatal or later onset, variable severity, and with focal or diffuse pancreatic involvement as the two major histological types. CHI confers a high.......023; and treatment delay from first symptom to expert center >5 days; OR 4.0 (1.0-16.6), trend p = 0.05. In multivariate analysis (n = 31) for early predictors with exclusion of brain MRI, treatment delay from first symptom to expert center >5 days conferred a significantly increased risk of neurodevelopment...... seen in uni- or multivariate analysis. CONCLUSION: Not only very low blood glucose, but also insufficient treatment as expressed by delay until expert center hospitalization, increased the risk of neurodevelopmental impairment. This novel finding calls for improvements in spread of knowledge about CHI...

  11. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.

    Science.gov (United States)

    Byrne, Susan; Jansen, Lara; U-King-Im, Jean-Marie; Siddiqui, Ata; Lidov, Hart G W; Bodi, Istvan; Smith, Luke; Mein, Rachael; Cullup, Thomas; Dionisi-Vici, Carlo; Al-Gazali, Lihadh; Al-Owain, Mohammed; Bruwer, Zandre; Al Thihli, Khalid; El-Garhy, Rana; Flanigan, Kevin M; Manickam, Kandamurugu; Zmuda, Erik; Banks, Wesley; Gershoni-Baruch, Ruth; Mandel, Hanna; Dagan, Efrat; Raas-Rothschild, Annick; Barash, Hila; Filloux, Francis; Creel, Donnell; Harris, Michael; Hamosh, Ada; Kölker, Stefan; Ebrahimi-Fakhari, Darius; Hoffmann, Georg F; Manchester, David; Boyer, Philip J; Manzur, Adnan Y; Lourenco, Charles Marques; Pilz, Daniela T; Kamath, Arveen; Prabhakar, Prab; Rao, Vamshi K; Rogers, R Curtis; Ryan, Monique M; Brown, Natasha J; McLean, Catriona A; Said, Edith; Schara, Ulrike; Stein, Anja; Sewry, Caroline; Travan, Laura; Wijburg, Frits A; Zenker, Martin; Mohammed, Shehla; Fanto, Manolis; Gautel, Mathias; Jungbluth, Heinz

    2016-03-01

    Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy gene EPG5. We report genetic, clinical, neuroradiological, and neuropathological features of 50 children from 30 families, as well as the neuronal phenotype of EPG5 knock-down in Drosophila melanogaster. We identified 39 different EPG5 mutations, most of them truncating and predicted to result in reduced EPG5 protein. Most mutations were private, but three recurrent mutations (p.Met2242Cysfs*5, p.Arg417*, and p.Gln336Arg) indicated possible founder effects. Presentation was mainly neonatal, with marked hypotonia and feeding difficulties. In addition to the five principal features (callosal agenesis, cataracts, hypopigmentation, cardiomyopathy, and immune dysfunction), we identified three equally consistent features (profound developmental delay, progressive microcephaly, and failure to thrive). The manifestation of all eight of these features has a specificity of 97%, and a sensitivity of 89% for the presence of an EPG5 mutation and will allow informed decisions about genetic testing. Clinical progression was relentless and many children died in infancy. Survival analysis demonstrated a median survival time of 24 months (95% confidence interval 0-49 months), with only a 10th of patients surviving to 5 years of age. Survival outcomes were significantly better in patients with compound heterozygous mutations (P = 0.046), as well as in patients with the recurrent p.Gln336Arg mutation. Acquired microcephaly and regression of skills in long-term survivors suggests a neurodegenerative component superimposed on the principal neurodevelopmental defect. Two-thirds of patients had a severe seizure disorder, placing EPG5 within the rapidly expanding group of genes associated with early-onset epileptic encephalopathies. Consistent neuroradiological features comprised structural abnormalities, in particular callosal agenesis and pontine hypoplasia, delayed

  12. Behavioral Phenotyping Assays for Genetic Mouse Models of Neurodevelopmental, Neurodegenerative, and Psychiatric Disorders.

    Science.gov (United States)

    Sukoff Rizzo, Stacey J; Crawley, Jacqueline N

    2017-02-08

    Animal models offer heuristic research tools to understand the causes of human diseases and to identify potential treatments. With rapidly evolving genetic engineering technologies, mutations identified in a human disorder can be generated in the mouse genome. Phenotypic outcomes of the mutation are then explicated to confirm hypotheses about causes and to discover effective therapeutics. Most neurodevelopmental, neurodegenerative, and psychiatric disorders are diagnosed primarily by their prominent behavioral symptoms. Mouse behavioral assays analogous to the human symptoms have been developed to analyze the consequences of mutations and to evaluate proposed therapeutics preclinically. Here we describe the range of mouse behavioral tests available in the established behavioral neuroscience literature, along with examples of their translational applications. Concepts presented have been successfully used in other species, including flies, worms, fish, rats, pigs, and nonhuman primates. Identical strategies can be employed to test hypotheses about environmental causes and gene × environment interactions.

  13. Communication Intervention for Young Children with Severe Neurodevelopmental Disabilities Via Telehealth.

    Science.gov (United States)

    Simacek, Jessica; Dimian, Adele F; McComas, Jennifer J

    2017-03-01

    Young children with neurodevelopmental disorders such as autism spectrum disorders (ASD) and Rett syndrome often experience severe communication impairments. This study examined the efficacy of parent-implemented communication assessment and intervention with remote coaching via telehealth on the acquisition of early communication skills of three young children with ASD (2) and Rett syndrome (1). Efficacy of the intervention was evaluated using single-case experimental designs. First, functional assessment was used to identify idiosyncratic/potentially communicative responses and contexts for each child. Next, parents implemented functional communication training (FCT). All of the children acquired the targeted communication responses. The findings support the efficacy of telehealth as a service delivery model to coach parents on intervention strategies for their children's early communication skills.

  14. Etiological Analysis of Neurodevelopmental Disabilities: Single-Center Eight-Year Clinical Experience in South China

    Directory of Open Access Journals (Sweden)

    Li Guo

    2011-01-01

    Full Text Available Etiology determination of neurodevelopmental disabilities (NDDs currently remains a worldwide common challenge on child health. We herein reported the etiology distribution feature in a cohort of 285 Chinese patients with NDDs. Although concrete NDD etiologies in 48.4% of the total patients could not be identified, genetic diseases (with the proportion of 35.8% in the total cases including inborn errors of metabolism (IEM and congenital dysmorphic diseases, constituted the commonest etiology category for NDDs in this study. The two key experimental technologies in pediatric metabolomics, gas chromatography-mass spectrometry (GC-MS, and tandem mass spectrometry (MS-MS, proved to be substantially helpful for the exploration of the NDD etiologies in this clinical investigation. The findings in this paper provided latest epidemiologic information on the etiology distribution of NDDs in Chinese, and the syndromic NDDs caused by citrin deficiency and the novel chromosomal karyotype, respectively, further expanded the etiology spectrum of NDDs.

  15. An Investigation of Bilateral Isokinematic Training and Neurodevelopmental Therapy in Improving Use of the Affected Hand in Children with Hemiplegia

    Science.gov (United States)

    Sheppard, Loretta; Mudie, Heather; Froude, Elspeth

    2007-01-01

    Motor impairment in children with hemiplegic cerebral palsy leads to a predominance of use of the unaffected hand. This impedes development of bimanual skills and deprives the affected side of the stimulus needed for normal growth. Occupational therapists aim to improve use of the affected hand, traditionally using Neurodevelopmental Therapy.…

  16. Neonatal Gram Negative and Candida Sepsis Survival and Neurodevelopmental Outcome at the Corrected Age of 24 Months

    NARCIS (Netherlands)

    T.R. de Haan (Timo Robert); L. Beckers (Loes); R.C.J. de Jonge (Rogier); L. Spanjaard (Lodewijk); L. van Toledo (Letty); D. Pajkrt (Dasja); A.G. van Wassenaer (Aleid); J.H. van der Lee (Johanna)

    2013-01-01

    textabstractObjectives: To evaluate the long term neurodevelopmental outcome of premature infants exposed to either gram- negative sepsis (GNS) or neonatal Candida sepsis (NCS), and to compare their outcome with premature infants without sepsis. Methods: Historical cohort study in a population of

  17. An optimized gene set for transcriptomics based neurodevelopmental toxicity prediction in the neural embryonic stem cell test

    NARCIS (Netherlands)

    Pennings, J.L.A.; Theunissen, P.T.; Piersma, A.H.|info:eu-repo/dai/nl/071276947

    2012-01-01

    The murine neural embryonic stem cell test (ESTn) is an in vitro model for neurodevelopmental toxicity testing. Recent studies have shown that application of transcriptomics analyses in the ESTn is useful for obtaining more accurate predictions as well as mechanistic insights. Gene expression

  18. Genetic and pharmacological manipulations of the serotonergic system in early life: neurodevelopmental underpinnings of autism-related behavior

    NARCIS (Netherlands)

    Kinast, K.; Peeters, D.; Kolk, S.M.; Schubert, D.; Homberg, J.R.

    2013-01-01

    Serotonin, in its function as neurotransmitter, is well-known for its role in depression, autism and other neuropsychiatric disorders, however, less known as a neurodevelopmental factor. The serotonergic system is one of the earliest to develop during embryogenesis and early changes in serotonin

  19. Brain Volumes at Term-Equivalent Age in Preterm Infants : Imaging Biomarkers for Neurodevelopmental Outcome through Early School Age

    NARCIS (Netherlands)

    Keunen, Kristin; Išgum, Ivana; van Kooij, Britt J M; Anbeek, Petronella; van Haastert, Ingrid C; Koopman-Esseboom, Corine; van Stam, Petronella C; Nievelstein, Rutger A J; Viergever, Max A; de Vries, Linda S; Groenendaal, Floris; Benders, Manon J N L

    OBJECTIVE: To evaluate the relationship between brain volumes at term and neurodevelopmental outcome through early school age in preterm infants. STUDY DESIGN: One hundred twelve preterm infants (born mean gestational age 28.6 ± 1.7 weeks) were studied prospectively with magnetic resonance imaging

  20. Effects of early nutrition and growth on brain volumes, white matter microstructure, and neurodevelopmental outcome in preterm newborns.

    Science.gov (United States)

    Coviello, Caterina; Keunen, Kristin; Kersbergen, Karina J; Groenendaal, Floris; Leemans, Alexander; Peels, Barbara; Isgum, Ivana; Viergever, Max A; de Vries, Linda S; Buonocore, Giuseppe; Carnielli, Virgilio P; Benders, Manon J N L

    2018-01-01

    BackgroundThis study aimed to investigate the effect of nutrition and growth during the first 4 weeks after birth on cerebral volumes and white matter maturation at term equivalent age (TEA) and on neurodevelopmental outcome at 2 years' corrected age (CA), in preterm infants.MethodsOne hundred thirty-one infants born at a gestational age (GA) brain development.

  1. The Validity of the Bayley-III and DDST-II in Preterm Infants With Neurodevelopmental Impairment: A Pilot Study.

    Science.gov (United States)

    Jeong, Seong Uk; Kim, Ghi Chan; Jeong, Ho Joong; Kim, Dong Kyu; Hong, Yoo Rha; Kim, Hui Dong; Park, Seok Gyo; Sim, Young-Joo

    2017-10-01

    To identify the usefulness of both the Bayley Scales of Infant and Toddler Development, 3rd edition (Bayley-III) and Denver Developmental Screening Test II (DDST-II) in preterm babies with neurodevelopmental impairment, considering the detection rate as regulation of criteria. Retrospective medical chart reviews which included the Bayley-III and DDST-II, were conducted for 69 preterm babies. Detection rate of neurodevelopmental impairment in preterm babies were investigated by modulating scaled score of the Bayley-III. The detection rate of DDST-II was identified by regarding more than 1 caution as an abnormality. Then detection rates of each corrected age group were verified using conventional criteria. When applying conventional criteria, 22 infants and 35 infants were detected as preterm babies with neurodevelopmental impairment, as per the Bayley-III and DDST-II evaluation, respectively. Detection rates increased by applying abnormal criteria that specified as less than 11 points in the Bayley-III scaled score. In DDST-II, detection rates rose from 50% to 68.6% using modified criteria. The detection rates were highest when performed after 12 months corrected age, being 100% in DDST II. The detection rate also increased when applying the modified criteria in both the Bayley-III and DDST-II. Accurate neurologic examination is more important for detection of preterm babies with neurodevelopmental impairment. We suggest further studies for the accurate modification of the detection criteria in DDST-II and the Bayley-III for preterm babies.

  2. Effect of co-twin gender on neurodevelopmental symptoms: a twin register study.

    Science.gov (United States)

    Eriksson, Jonna Maria; Lundström, Sebastian; Lichtenstein, Paul; Bejerot, Susanne; Eriksson, Elias

    2016-01-01

    Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are neurodevelopmental disorders thought to have both genetic and environmental causes. It has been hypothesized that exposure to elevated levels of prenatal testosterone is associated with elevated traits of ASD and ADHD. Assuming that testosterone levels from a dizygotic male twin fetus may lead to enhanced testosterone exposure of its co-twins, we aimed to test the prenatal testosterone hypothesis by comparing same-sex with opposite-sex dizygotic twins with respect to neurodevelopmental symptoms. Neuropsychiatric traits were assessed in a population-based twin cohort from the Child and Adolescent Twin Study in Sweden (CATSS). Parental interviews were conducted for 16,312 dizygotic twins, 9 and 12 years old, with the Autism-Tics, ADHD, and other Comorbidities inventory (A-TAC). Girls with a female co-twin had an increased risk of reaching the cut-off score for ADHD compared with girls with a male co-twin. Both boys and girls with a female co-twin displayed a larger number of traits related to attention deficit and repetitive and stereotyped behaviors than those with a male twin. In girls, this also extended to social interaction and the combined measures for ASD and ADHD, however, with small effect sizes. Our results are reverse to what would have been expected from the prenatal testosterone hypothesis but consistent with a previous study of ASD and ADHD traits in dizygotic twins. The seemingly protective effect for girls of having a twin brother may be an effect of parent report bias, but may also be an unexpected effect of sharing the intrauterine environment with a male co-twin.

  3. Early blood glucose profile and neurodevelopmental outcome at two years in neonatal hypoxic-ischaemic encephalopathy.

    LENUS (Irish Health Repository)

    Nadeem, Montasser

    2012-01-31

    BACKGROUND: To examine the blood glucose profile and the relationship between blood glucose levels and neurodevelopmental outcome in term infants with hypoxic-ischaemic encephalopathy. METHODS: Blood glucose values within 72 hours of birth were collected from 52 term infants with hypoxic-ischaemic encephalopathy. Hypoglycaemia [< 46.8 mg\\/dL (2.6 mmol\\/L)] and hyperglycaemia [> 150 mg\\/dL (8.3 mmol\\/L)] were correlated to neurodevelopmental outcome at 24 months of age. RESULTS: Four fifths of the 468 blood samples were in the normoglycaemic range (392\\/468:83.8%). Of the remaining 76 samples, 51.3% were in the hypoglycaemic range and (48.7%) were hyperglycaemic. A quarter of the hypoglycaemic samples (28.2%:11\\/39) and a third of the hyperglycaemic samples (32.4%:12\\/37) were recorded within the first 30 minutes of life. Mean (SD) blood glucose values did not differ between infants with normal and abnormal outcomes [4.89(2.28) mmol\\/L and 5.02(2.35) mmol\\/L, p value = 0.15] respectively. In term infants with hypoxic-ischaemic encephalopathy, early hypoglycaemia (between 0-6 hours of life) was associated with adverse outcome at 24 months of age [OR = 5.8, CI = 1.04-32)]. On multivariate analysis to adjust for grade of HIE this association was not statistically significant. Late hypoglycaemia (6-72 hours of life) was not associated with abnormal outcome [OR = 0.22, CI (0.04-1.14)]. The occurrence of hyperglycaemia was not associated with adverse outcome. CONCLUSION: During the first 72 hours of life, blood glucose profile in infants with hypoxic-ischaemic encephalopathy varies widely despite a management protocol. Early hypoglycaemia (0-6 hours of life) was associated with severe HIE, and thereby; adverse outcome.

  4. Early blood glucose profile and neurodevelopmental outcome at two years in neonatal hypoxic-ischaemic encephalopathy

    LENUS (Irish Health Repository)

    Nadeem, Montasser

    2011-02-04

    Abstract Background To examine the blood glucose profile and the relationship between blood glucose levels and neurodevelopmental outcome in term infants with hypoxic-ischaemic encephalopathy. Methods Blood glucose values within 72 hours of birth were collected from 52 term infants with hypoxic-ischaemic encephalopathy. Hypoglycaemia [< 46.8 mg\\/dL (2.6 mmol\\/L)] and hyperglycaemia [> 150 mg\\/dL (8.3 mmol\\/L)] were correlated to neurodevelopmental outcome at 24 months of age. Results Four fifths of the 468 blood samples were in the normoglycaemic range (392\\/468:83.8%). Of the remaining 76 samples, 51.3% were in the hypoglycaemic range and (48.7%) were hyperglycaemic. A quarter of the hypoglycaemic samples (28.2%:11\\/39) and a third of the hyperglycaemic samples (32.4%:12\\/37) were recorded within the first 30 minutes of life. Mean (SD) blood glucose values did not differ between infants with normal and abnormal outcomes [4.89(2.28) mmol\\/L and 5.02(2.35) mmol\\/L, p value = 0.15] respectively. In term infants with hypoxic-ischaemic encephalopathy, early hypoglycaemia (between 0-6 hours of life) was associated with adverse outcome at 24 months of age [OR = 5.8, CI = 1.04-32)]. On multivariate analysis to adjust for grade of HIE this association was not statistically significant. Late hypoglycaemia (6-72 hours of life) was not associated with abnormal outcome [OR = 0.22, CI (0.04-1.14)]. The occurrence of hyperglycaemia was not associated with adverse outcome. Conclusion During the first 72 hours of life, blood glucose profile in infants with hypoxic-ischaemic encephalopathy varies widely despite a management protocol. Early hypoglycaemia (0-6 hours of life) was associated with severe HIE, and thereby; adverse outcome.

  5. Etiological Subgroups of Small-for-Gestational-Age: Differential Neurodevelopmental Outcomes.

    Directory of Open Access Journals (Sweden)

    Xiuhong Li

    Full Text Available It remains unclear why substantial variations in neurodevelopmental outcomes exist within small-for-gestational-age (SGA children. We prospectively compared 5-y neurodevelopmental outcomes across SGA etiological subgroups.Children born SGA (N = 1050 from U.S. Early Childhood Longitudinal Study-Birth Cohort (2001-2007 was divided into etiological subgroups by each of 7 well-established prenatal risk factors. We fit linear regression models to compare 5-y reading, math, gross motor and fine motor scores across SGA subgroups, adjusting for socio-demographic confounders.Compared to singleton SGA subgroup, multiple-birth SGA subgroup had lower mean reading (adjusted mean difference, -4.08 [95% confidence interval, -6.10, -2.06] and math (-2.22 [-3.61, -0.84] scores. These disadvantages in reading and math existed only among multiple-birth SGA subgroup without ovulation stimulation (reading, -4.50 [-6.64, -2.36]; math, -2.91 [-4.37, -1.44], but not among those with ovulation stimulation (reading, -2.33 [-6.24, 1.57]; math 0.63 [-1.86, 3.12]. Compared to singleton SGA subgroup without maternal smoking and inadequate gestational weight gain, singleton SGA subgroup with co-occurrence of maternal smoking and inadequate gestational weight gain (GWG had lower mean reading (-4.81 [-8.50, -1.12] and math (-2.95 [-5.51, -0.38] scores. These differences were not mediated by Apgar score.Multiple-birth SGA subgroups (vs. singleton SGA or singleton SGA subgroup with co-occurrence of smoking and inadequate GWG (vs. singleton SGA subgroup without maternal smoking and inadequate gestational weight gain have poorer cognitive development up to 5 y.

  6. Abnormal neurodevelopmental outcomes are common in children with transient congenital hyperinsulinism

    Directory of Open Access Journals (Sweden)

    Bindu Hima Avatapalle

    2013-05-01

    Full Text Available Introduction: Neuroglycopaenia is recognised to be associated with abnormal neurodevelopmental outcomes in 26-44% of children with persistent congenital hyperinsulinism (P-CHI. The prevalence of abnormal neurodevelopment in transient CHI (T-CHI is not known. We have aimed to investigate abnormal neurodevelopment and associated factors in T-CHI and P-CHI. Materials and Methods: A cohort of children with CHI (n=67, age 2.5-5 years was assessed at follow up review and noted to have normal or abnormal (mild or severe neurodevelopmental outcomes for the domains of speech and language, motor and vision. Children were classified as P-CHI (n=33, if they had undergone surgery or remained on medical therapy, or T-CHI (n=34, if medical treatment for hypoglycaemia was stopped. Results: Overall, abnormal neurodevelopment was present in 26 (39% children with CHI, of whom 18 (69% were severe. Importantly, the incidence of abnormal neurodevelopment in T-CHI was similar to that in P-CHI (30% v 47% respectively, p=0.16. The prevalence of severe abnormal neurodevelopment in speech, motor and vision domains was similar in both T-CHI and P-CHI children. For this cohort, we found that the severity of disease (based upon maximal diazoxide dose, [odds ratio (95% confidence intervals 1.3 (1.1;1.5, p=0.03] and early presentation of CHI <7 days following birth [5.9 (1.3;27.8, p=0.02] were significantly associated with abnormal neurodevelopment. There was no significant association with gender, genotype or the histopathological basis of CHI. Conclusions: Abnormal neurodevelopment was evident in one third of children with both T-CHI and P-CHI, early presentation and severe CHI being risk factors. Early recognition and rapid correction of hypoglycaemia are advocated to avoid abnormal neurodevelopment in children with CHI.

  7. Learning Disabilities in Extremely Low Birth Weight Children and Neurodevelopmental Profiles at Preschool Age.

    Science.gov (United States)

    Squarza, Chiara; Picciolini, Odoardo; Gardon, Laura; Giannì, Maria L; Murru, Alessandra; Gangi, Silvana; Cortinovis, Ivan; Milani, Silvano; Mosca, Fabio

    2016-01-01

    At school age extremely low birth weight (ELBW) and extremely low gestational age (ELGAN) children are more likely to show Learning Disabilities (LDs) and difficulties in emotional regulation. The aim of this study was to investigate the incidence of LDs at school age and to detect neurodevelopmental indicators of risk for LDs at preschool ages in a cohort of ELBW/ELGAN children with broadly average intelligence. All consecutively newborns 2001-2006 admitted to the same Institution entered the study. Inclusion criteria were BW learning disabilities at school age was investigated through a parent-report questionnaire at children's age range 9-10 years. Neurodevelopmental profiles were assessed through the Griffiths Mental Development Scales at 1 and 2 years of corrected age and at 3, 4, 5, and 6 years of chronological age and were analyzed comparing two groups of children: those with LDs and those without. At school age 24 on 102 (23.5%) of our ELBW/ELGAN children met criteria for LDs in one or more areas, with 70.8% comorbidity with emotional/attention difficulties. Children with LDs scored significantly lower in the Griffiths Locomotor and Language subscales at 2 years of corrected age and in the Personal-social, Performance and Practical Reasoning subscales at 5 years of chronological age. Our findings suggest that, among the early developmental indicators of adverse school outcome, there is a poor motor experimentation, language delay, and personal-social immaturity. Cognitive rigidity and poor ability to manage practical situations also affect academic attainment. Timely detection of these early indicators of risk is crucial to assist the transition to school.

  8. Neurodevelopmental Outcomes of Extremely Preterm Infants Randomized to Stress Dose Hydrocortisone.

    Directory of Open Access Journals (Sweden)

    Nehal A Parikh

    Full Text Available To compare the effects of stress dose hydrocortisone therapy with placebo on survival without neurodevelopmental impairments in high-risk preterm infants.We recruited 64 extremely low birth weight (birth weight ≤1000 g infants between the ages of 10 and 21 postnatal days who were ventilator-dependent and at high-risk for bronchopulmonary dysplasia. Infants were randomized to a tapering 7-day course of stress dose hydrocortisone or saline placebo. The primary outcome at follow-up was a composite of death, cognitive or language delay, cerebral palsy, severe hearing loss, or bilateral blindness at a corrected age of 18-22 months. Secondary outcomes included continued use of respiratory therapies and somatic growth.Fifty-seven infants had adequate data for the primary outcome. Of the 28 infants randomized to hydrocortisone, 19 (68% died or survived with impairment compared with 22 of the 29 infants (76% assigned to placebo (relative risk: 0.83; 95% CI, 0.61 to 1.14. The rates of death for those in the hydrocortisone and placebo groups were 31% and 41%, respectively (P = 0.42. Randomization to hydrocortisone also did not significantly affect the frequency of supplemental oxygen use, positive airway pressure support, or need for respiratory medications.In high-risk extremely low birth weight infants, stress dose hydrocortisone therapy after 10 days of age had no statistically significant effect on the incidence of death or neurodevelopmental impairment at 18-22 months. These results may inform the design and conduct of future clinical trials.ClinicalTrials.gov NCT00167544.

  9. Targeting neural synchrony deficits is sufficient to improve cognition in a schizophrenia-related neurodevelopmental model

    Directory of Open Access Journals (Sweden)

    Heekyung eLee

    2014-02-01

    Full Text Available Cognitive symptoms are core features of mental disorders but procognitive treatments are limited. We have proposed a ‘discoordination’ hypothesis that cognitive impairment results from aberrant coordination of neural activity. We reported that neonatal ventral hippocampus lesion (NVHL rats, an established neurodevelopmental model of schizophrenia, have abnormal neural synchrony and cognitive deficits in the active place avoidance task. During stillness, we observed that cortical local field potentials sometimes resembled epileptiform spike-wave discharges with higher prevalence in NVHL rats, indicating abnormal neural synchrony due perhaps to imbalanced excitation-inhibition coupling. Here, within the context of the hypothesis, we investigated whether attenuating abnormal neural synchrony will improve cognition in NVHL rats. We report that 1 interhippocampal synchrony in the theta and beta bands is correlated with active place avoidance performance; 2 the anticonvulsant ethosuximide attenuated the abnormal spike-wave activity, improved cognitive control, and reduced hyperlocomotion; 3 ethosuximide normalized the task-associated theta and beta synchrony between the two hippocampi but also increased synchrony between the medial prefrontal cortex and hippocampus above control levels; 4 the antipsychotic olanzapine was less effective at improving cognitive control and normalizing place avoidance-related inter-hippocampal neural synchrony, although it reduced hyperactivity; and 5 olanzapine caused an abnormal pattern of frequency-independent increases in neural synchrony, in both NVHL and control rats. These data suggest that normalizing aberrant neural synchrony can be beneficial and that drugs targeting the pathophysiology of abnormally coordinated neural activities may be a promising theoretical framework and strategy for developing treatments that improve cognition in neurodevelopmental disorders such as schizophrenia.

  10. Portal for Families Overcoming Neurodevelopmental Disorders (PFOND): Implementation of a Software Framework for Facilitated Community Website Creation by Nontechnical Volunteers.

    Science.gov (United States)

    Ye, Xin Cynthia; Ng, Isaiah; Seid-Karbasi, Puya; Imam, Tuhina; Lee, Cheryl E; Chen, Shirley Yu; Herman, Adam; Sharma, Balraj; Johal, Gurinder; Gu, Bobby; Wasserman, Wyeth W

    2013-08-06

    The Portal for Families Overcoming Neurodevelopmental Disorders (PFOND) provides a structured Internet interface for the sharing of information with individuals struggling with the consequences of rare developmental disorders. Large disease-impacted communities can support fundraising organizations that disseminate Web-based information through elegant websites run by professional staff. Such quality resources for families challenged by rare disorders are infrequently produced and, when available, are often dependent upon the continued efforts of a single individual. The project endeavors to create an intuitive Web-based software system that allows a volunteer with limited technical computer skills to produce a useful rare disease website in a short time period. Such a system should provide access to emerging news and research findings, facilitate community participation, present summary information about the disorder, and allow for transient management by volunteers who are likely to change periodically. The prototype portal was implemented using the WordPress software system with both existing and customized supplementary plug-in software modules. Gamification scoring features were implemented in a module, allowing editors to measure progress. The system was installed on a Linux-based computer server, accessible across the Internet through standard Web browsers. A prototype PFOND system was implemented and tested. The prototype system features a structured organization with distinct partitions for background information, recent publications, and community discussions. The software design allows volunteer editors to create a themed website, implement a limited set of topic pages, and connect the software to dynamic RSS feeds providing information about recent news or advances. The prototype was assessed by a fraction of the disease sites developed (8 out of 27), including Aarskog-Scott syndrome, Aniridia, Adams-Oliver syndrome, Cat Eye syndrome, Kabuki syndrome

  11. Portal for Families Overcoming Neurodevelopmental Disorders (PFOND): Implementation of a Software Framework for Facilitated Community Website Creation by Nontechnical Volunteers

    Science.gov (United States)

    Imam, Tuhina; Lee, Cheryl E; Chen, Shirley Yu; Herman, Adam; Sharma, Balraj; Johal, Gurinder; Gu, Bobby

    2013-01-01

    Background The Portal for Families Overcoming Neurodevelopmental Disorders (PFOND) provides a structured Internet interface for the sharing of information with individuals struggling with the consequences of rare developmental disorders. Large disease-impacted communities can support fundraising organizations that disseminate Web-based information through elegant websites run by professional staff. Such quality resources for families challenged by rare disorders are infrequently produced and, when available, are often dependent upon the continued efforts of a single individual. Objective The project endeavors to create an intuitive Web-based software system that allows a volunteer with limited technical computer skills to produce a useful rare disease website in a short time period. Such a system should provide access to emerging news and research findings, facilitate community participation, present summary information about the disorder, and allow for transient management by volunteers who are likely to change periodically. Methods The prototype portal was implemented using the WordPress software system with both existing and customized supplementary plug-in software modules. Gamification scoring features were implemented in a module, allowing editors to measure progress. The system was installed on a Linux-based computer server, accessible across the Internet through standard Web browsers. Results A prototype PFOND system was implemented and tested. The prototype system features a structured organization with distinct partitions for background information, recent publications, and community discussions. The software design allows volunteer editors to create a themed website, implement a limited set of topic pages, and connect the software to dynamic RSS feeds providing information about recent news or advances. The prototype was assessed by a fraction of the disease sites developed (8 out of 27), including Aarskog-Scott syndrome, Aniridia, Adams-Oliver syndrome

  12. Neurodevelopmental outcome of HIV-exposed but uninfected infants in the Mother and Infants Health Study, Cape Town, South Africa.

    Science.gov (United States)

    Springer, Priscilla E; Slogrove, Amy L; Laughton, Barbara; Bettinger, Julie A; Saunders, Henriëtte H; Molteno, Christopher D; Kruger, Mariana

    2018-01-01

    To compare neurodevelopmental outcomes of HIV-exposed uninfected (HEU) and HIV-unexposed uninfected (HUU) infants in a peri-urban South African population. HEU infants living in Africa face unique biological and environmental risks, but uncertainty remains regarding their neurodevelopmental outcome. This is partly due to lack of well-matched HUU comparison groups needed to adjust for confounding factors. This was a prospective cohort study of infants enrolled at birth from a low-risk midwife obstetric facility. At 12 months of age, HEU and HUU infant growth and neurodevelopmental outcomes were compared. Growth was evaluated as WHO weight-for-age, length-for-age, weight-for-length and head-circumference-for-age Z-scores. Neurodevelopmental outcomes were evaluated using the Bayley scales of Infant Development III (BSID) and Alarm Distress Baby Scale (ADBB). Fifty-eight HEU and 38 HUU infants were evaluated at 11-14 months of age. Performance on the BSID did not differ in any of the domains between HEU and HUU infants. The cognitive, language and motor scores were within the average range (US standardised norms). Seven (12%) HEU and 1 (2.6%) HUU infant showed social withdrawal on the ADBB (P = 0.10), while 15 (26%) HEU and 4 (11%) HUU infants showed decreased vocalisation (P = 0.06). There were no growth differences. Three HEU and one HUU infant had minor neurological signs, while eight HEU and two HUU infants had macrocephaly. Although findings on the early neurodevelopmental outcome of HEU infants are reassuring, minor differences in vocalisation and on neurological examination indicate a need for reassessment at a later age. © 2017 John Wiley & Sons Ltd.

  13. A prospective investigation of neurodevelopmental risk factors for adult antisocial behavior combining official arrest records and self-reports.

    Science.gov (United States)

    Paradis, Angela D; Fitzmaurice, Garrett M; Koenen, Karestan C; Buka, Stephen L

    2015-09-01

    Neurodevelopmental deficits are postulated to play an important role in the etiology of persistent antisocial behavior (ASB). Yet it remains uncertain as to which particular deficits are most closely associated with ASB. We seek to advance this understanding using prospectively collected data from a birth cohort in which multiple indices of neurodevelopmental functioning and ASB were assessed. Participants (n = 2776) were members of the Providence, Rhode Island cohort of the Collaborative Perinatal Project. Information on demographic and neurodevelopmental variables was collected from pregnancy through age 7. When all offspring had reached 33 years of age an adult criminal record check was conducted. A subset of subjects also self-reported on their engagement in serious ASB. Bivariate logistic regression was used to examine the relationship between each neurodevelopmental factor and adult ASB and test whether associations varied depending on how ASB was ascertained. After controlling for background and contextual characteristics, maternal smoking during pregnancy, lower childhood verbal and performance IQ, and age 7 aggressive/impulsive behavior all significantly increased the odds of adult ASB. Associations were not modified by sex and did not depend on how ASB was assessed. However, while both males and Black participants were more likely to engage in ASB than their respective female and White counterparts, relationships were significantly stronger for official records than for self-reports. Results point to a particular subset of early neurodevelopmental risks for antisocial outcomes in adulthood. Findings also suggest that prior contradictory results are not due to the use of official records versus self-reported outcomes. Copyright © 2015 Elsevier Ltd. All rights reserved.

  14. Parental vaccine concerns in Kentucky.

    Science.gov (United States)

    Smith, Michael J; Woods, Charles R; Marshall, Gary S

    2009-09-01

    An increasing number of parents are questioning the safety and necessity of routine childhood immunizations. Locally produced vaccine risk communication materials may be effective in reassuring these parents. However, little is known about specific vaccine safety concerns in the state of Kentucky. An Internet-based survey focusing on parental vaccine safety concerns and potential vaccine risk communication strategies was sent to all members of the Kentucky Chapter of the Amerian Academy of Pediatrics. There were 121 respondents who routinely administered childhood vaccines. Of these, 85% reported parental concern about the combined measles-mumps-rubella (MMR) vaccine. Concerns about the influenza and human papillomavirus (HPV) vaccines were also frequent. Of the respondents, 46% noted parental skepticism about all vaccines in general. However, refusal of all vaccines was uncommon in most practices (median 1%, interquartile range 1%-3%). The belief that vaccines cause autism was the most prevalent parental concern, reported by 70% of pediatricians. Physicians also reported that a list of reliable vaccine information Websites and pamphlets addressing common vaccine safety concerns would be the most helpful materials to use during their discussions with concerned parents. These findings suggest that specific information about the MMR, influenza, and HPV vaccines, as well as data refuting the putative link between vaccines and autism would be useful to physicians who administer vaccinations. Respondents were especially interested in reliable vaccine information on the Internet. The Websites listed below offer accurate scientific information about vaccines and the diseases they prevent.

  15. Parental concerns about complementary feeding

    DEFF Research Database (Denmark)

    Nielsen, Annemette; Michaelsen, Kim F.; Holm, Lotte

    2013-01-01

    of the family's food, and the mother's focus was on the immediate well-being and safety of the child. In the later phase, health concerns shifted towards a longer-term perspective, and the aim of integrating the child into the family's social world became as important as concerns about well-being and safety......Background/objectives:To investigate and analyze differences in parental concerns during earlier and later phases of complementary feeding.Subject/methods:Eight focus group interviews were conducted with 45 mothers of children aged 7 or 13 months. Deductive and inductive coding procedures were...

  16. Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variation.

    Directory of Open Access Journals (Sweden)

    Jonathon Blake

    Full Text Available Balanced chromosome abnormalities (BCAs occur at a high frequency in healthy and diseased individuals, but cost-efficient strategies to identify BCAs and evaluate whether they contribute to a phenotype have not yet become widespread. Here we apply genome-wide mate-pair library sequencing to characterize structural variation in a patient with unclear neurodevelopmental disease (NDD and complex de novo BCAs at the karyotype level. Nucleotide-level characterization of the clinically described BCA breakpoints revealed disruption of at least three NDD candidate genes (LINC00299, NUP205, PSMD14 that gave rise to abnormal mRNAs and could be assumed as disease-causing. However, unbiased genome-wide analysis of the sequencing data for cryptic structural variation was key to reveal an additional submicroscopic inversion that truncates the schizophrenia- and bipolar disorder-associated brain transcription factor ZNF804A as an equally likely NDD-driving gene. Deep sequencing of fluorescent-sorted wild-type and derivative chromosomes confirmed the clinically undetected BCA. Moreover, deep sequencing further validated a high accuracy of mate-pair library sequencing to detect structural variants larger than 10 kB, proposing that this approach is powerful for clinical-grade genome-wide structural variant detection. Our study supports previous evidence for a role of ZNF804A in NDD and highlights the need for a more comprehensive assessment of structural variation in karyotypically abnormal individuals and patients with neurocognitive disease to avoid diagnostic deception.

  17. Development and analysis of the factor structure of parents' internalized stigma of neurodevelopmental disorder in child scale

    Directory of Open Access Journals (Sweden)

    Ananya Mahapatra

    2017-01-01

    Full Text Available Background: Parents of children suffering from neurodevelopmental disorders, frequently face public stigma which is often internalized and leads to psychological burden. However, there is a lack of data on the perceptions of internalized stigma among parents of children with neurodevelopmental disorders, especially from lower-middle-income countries like India. Aims: This study aims to develop an adapted version of the Internalized Stigma of Mental Illness (ISMI scale for use in parents of children suffering from neurodevelopmental disorders and to explore the factor structure of this instrument through exploratory factor analysis (EFA. Settings and Design: A cross-sectional study was conducted in an outpatient setting in a tertiary care hospital in India. Materials and Methods: A total of 105 parents of children suffering from neurodevelopmental disorders (according to the Diagnostic and Statistical Manual of Mental Disorders Fifth Edition were recruited for the study after screening for psychiatric disorder using Mini International Neuropsychiatric Interview version 6.0. A modified 16-item scale was constructed Parents' Internalized Stigma of Neurodevelopmental Disorder in Child (PISNC scale and applied on 105 parents of children suffering from neurodevelopmental disorders, after translation to Hindi and back-translation, in keeping with the World Health Organization's translation-back-translation methodology. Statistical Analysis: EFA was carried out using principal component analysis with orthogonal (varimax rotation. Internal consistency of the Hindi version of the scale was estimated in the form of Cronbach's alpha. Spearman–Brown coefficient and Guttman split-half coefficient were calculated to evaluate the split-half reliability. Results: The initial factor analysis yielded three-factor models with an eigenvalue of >1 and the total variance explained by these factors was 62.017%. The internal consistency of the 16-item scale was 0

  18. Consumer concerns: motivating to action.

    OpenAIRE

    Bruhn, C. M.

    1997-01-01

    Microbiologic safety is consumers' most frequently volunteered food safety concern. An increase in the level of concern in recent years suggests that consumers are more receptive to educational information. However, changing lifestyles have lessened the awareness of foodborne illness, especially among younger consumers. Failure to fully recognize the symptoms or sources of foodborne disease prevents consumers from taking corrective action. Consumer education messages should include the ubiqui...

  19. Women trafficking: causes, concerns, care!

    Science.gov (United States)

    Khowaja, Shaneela Sadaruddin; Tharani, Ambreen Jawed; Agha, Ajmal; Karamaliani, Rozina Sherali

    2012-08-01

    Pakistan is both a country of origin and destination as far as women trafficking is concerned. Poverty, gender discrimination, lack of education, and ignorance about legal rights are some of the underlying causes. Available data suggest several areas of concern, like, for instance: direct health effects, maladaptive coping leading to the use of illicit drugs, and inaccessibility to healthcare facilities. Therefore, numerous interventions would be required at three levels: the prevention of trafficking, the protection of victims and the prosecution of the traffickers.

  20. Empathic concern drives costly altruism

    OpenAIRE

    FeldmanHall, Oriel; Dalgleish, Tim; Evans, Davy; Mobbs, Dean

    2015-01-01

    Why do we self-sacrifice to help others in distress? Two competing theories have emerged, one suggesting that prosocial behavior is primarily motivated by feelings of empathic other-oriented concern, the other that we help mainly because we are egoistically focused on reducing our own discomfort. Here we explore the relationship between costly altruism and these two sub-processes of empathy, specifically drawing on the caregiving model to test the theory that trait empathic concern (e.g. gene...

  1. Neurocognitive Outcomes of Individuals with a Sex Chromosome Trisomy: XXX, XYY, or XXY--A Systematic Review

    Science.gov (United States)

    Leggett, Victoria; Jacobs, Patricia; Nation, Kate; Scerif, Gaia; Bishop, Dorothy V. M.

    2010-01-01

    Aim: To review systematically the neurodevelopmental characteristics of individuals with sex chromosome trisomies (SCTs). Method: A bibliographic search identified English-language articles on SCTs. The focus was on studies unbiased by clinical referral, with power of at least 0.69 to detect an effect size of 1.0. Results: We identified 35…

  2. Siblings of Individuals with Smith-Magenis Syndrome: An Investigation of the Correlates of Positive and Negative Behavioural Traits

    Science.gov (United States)

    Moshier, M. S.; York, T. P.; Silberg, J. L.; Elsea, S. H.

    2012-01-01

    Background: Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder that affects approximately one out of 25 000 births worldwide. To date, no research has been conducted to investigate how having an individual with SMS in a family is a positive or negative influence on siblings. Methods: To investigate this question we conducted a study…

  3. Children with neurodevelopmental disorders: The burden and psychological effects on caregivers in Lagos, Nigeria

    Directory of Open Access Journals (Sweden)

    Andrew T Olagunju

    2017-01-01

    Full Text Available Background: Children with neurodevelopmental disorders (CNDs are a group requiring more attention as their care is often challenging, particularly for parents with primary caregiving roles in resource-restricted settings. This study had set out to investigate the burden and psychological distress among caregivers of children with neurodevelopmental delays. Materials and Methods: A total of 68 caregivers were recruited during the 2013 annual autism health program organized by the College of Medicine, University of Lagos in collaboration with Guaranty Trust Bank, Nigeria and Blazing Trails, USA. Of these caregivers, 60 respondents (caregivers and children were included in the final analyses due to poorly completed questionnaires. The Zarit Caregivers Burden Scale (ZCBS and General Health Questionnaire version 12 (GHQ-12 were administered to elicit caregivers' experience with respect to burden and psychological distress, respectively. Results: Of the 60 participants included in the final analyses, the majority constituted parents (96.3% with mothers accounting for 71.7%; 28 (46.7% participants were government workers and 3 (5% were full-time housewives. The mean age of CNDs was 6.8 (±3.2 years, and 33 (55.0% were males. Delivery by cesarian section was reported in 19 (31.8%. The common presenting complaints by caregivers were inability to walk (32.7%, repetitive behavior (25.5%, difficulty with verbal communication (10.9%, nonsocialization (9.1%, seizures (9.1%, and hyperactivity (3.6%. Problems were noticed at ≤ 1 year in 46.7% while they were noticed after 2 years in more than half the children, and a little above one-eighth (14% had siblings with similar problems. On the ZCBS, nine (15.0% caregivers reported a significant burden. In addition, 23 (38.3% caregivers had psychological distress. Caregivers' burden was significantly related to the report of psychological distress in caregivers (P < 0.001 and there was a trend toward the presence of

  4. Step-Initiation Deficits in Children with Faulty Posture Diagnosed with Neurodevelopmental Disorders during Infancy

    Directory of Open Access Journals (Sweden)

    Magdalena Stania

    2017-11-01

    Full Text Available BackgroundEarly detection of movement deficits during step initiation will facilitate the selection of the optimal physiotherapy management strategy. The main aim of the study was to assess potential differences in step initiation between 5- and 6-year-old children with faulty posture who had been diagnosed with neurodevelopmental disorders during infancy and healthy children.MethodsThe experimental group consisted of 19 children aged 5–6 years with faulty posture, who had been diagnosed with neurodevelopmental disorders during infancy and were given physiotherapy in the first year of their lives. The control group comprised 19 nursery school children aged 5–6 years with no postural defects, no history of postural control or movement deficits, and no physiotherapy interventions in the first year of their lives. Step initiation was performed on force platforms under various conditions, i.e., with and without an obstacle, stepping up onto a platform placed at a higher level, stepping down onto a platform placed on a lower level. The recording of center of foot pressure (COP displacements was divided into three phases: phase 1 (P1—quiet standing before step initiation, phase 2 (P2—transit, phase 3 (P3—quiet standing until measurement completion.ResultsThe Tukey post hoc test showed that the means of sway range (raCOP and mean velocity (vCOP in sagittal (AP plane for phase 1 and vCOP in frontal (ML plane for phase 3 registered in the step-up trial were significantly higher (p < 0.05 in children with faulty posture compared to children with typical development. P1vCOPML, P3vCOPAP, P3raCOPML, and P3vCOPMLof the step-down trial were also significantly higher in children with faulty posture (p < 0.05.ConclusionInclusion of functional movement exercises (stair-walking tasks in physiotherapy interventions for children with postural defects seems well justified.The trial was registered in the Australian and New Zealand Clinical Trials

  5. Neurodevelopmental and behavioral outcome of very low birth weight babies at corrected age of 2 years.

    Science.gov (United States)

    Mukhopadhyay, Kanya; Malhi, Prahbhjot; Mahajan, Rama; Narang, Anil

    2010-09-01

    Neurodevelopmental and behavioral assessment of very low birth weight babies (VLBW) at corrected age (CA) of 2 years. 127, 110, 99 and 101 babies ≤34 weeks and ≤1500 g were followed at CA of 3, 6, 9, 12 months respectively for developmental and neurological assessment. DASII (Developmental assessment scale for Indian infants) was used at CA of 18 months and preschool behavioural checklist (PBCL) at CA 2 years. Of 101 VLBW babies available for follow up at CA 1 year, 3 (3%) babies had Cerebral Palsy (CP) and 3% (n = 3) had suspect abnormality (mild hypotonia), 11% (n = 11) had gross motor and 8% (n = 8) had language abnormality. Their mean mental (MeDQ) and motor (MoDQ) quotients were 80.4 ± 10.7 and 77.2 ± 13.3 and a score of < 70 was found in 17% (MeDQ) and 25.7% (MoDQ) VLBW babies. High PBCL score (mean 16.8 ± 5.4) was seen in 84%VLBW babies. On subgroup analysis, 2 babies (5%) in subgroup1 ( n = 54, ≤1200 g,) and 1 (1.6%) in subgroup 2 (n = 78, 1201-1500 g) had CP. Twelve (29%) in subgroup 1 had significant language delay (p = 0.004) as compared to 4 (15%) in subgroup 2 at 1 year. BSID and PBCL scores were comparable. Amongst ELBW babies (<1000 g), 6.6% (n = 1) had CP, 25% (n = 3) and 42% (n = 5) had low MeDQ and MoDQ respectively and all of them had high PBCL score. AGA and SGA had similar outcome. VLBW babies need close and longer follow up due to high risk of neurodevelopmental and behavioral abnormality.

  6. Psychosocial functioning in children with neurodevelopmental disorders and externalizing behavior problems.

    Science.gov (United States)

    Arim, Rubab G; Kohen, Dafna E; Garner, Rochelle E; Lach, Lucyna M; Brehaut, Jamie C; MacKenzie, Michael J; Rosenbaum, Peter L

    2015-01-01

    This study examines psychosocial functioning in children with neurodevelopmental disorders (NDDs) and/or externalizing behavior problems (EBPs) as compared to children with neither condition. The longitudinal sample, drawn from the Canadian National Longitudinal Survey of Children and Youth, included children who were 6 to 9 years old in Cycle 1 who were followed-up biennially in Cycles 2 and 3 (N = 3476). The associations between NDDs and/or EBPs, child and family socio-demographic characteristics and parenting behaviors (consistency and ineffective parenting), were examined across several measures of child psychosocial functioning: peer relationships, general self-esteem, prosocial behavior and anxiety-emotional problems. Children with NDDs, EBPs, and both NDDs and EBPs self-reported lower scores on general self-esteem. Children with NDDs and both NDDs and EBPs reported lower scores on peer relationships and prosocial behavior. Lastly, children with both NDDs and EBPs self-reported higher scores on anxiety-emotional behaviors. After considering family socio-demographic characteristics and parenting behaviors, these differences remained statistically significant only for children with both NDDs and EBPs. Child age and gender, household income and parenting behaviors were important in explaining these associations. Psychosocial functioning differs for children with NDDs and/or EBPs. Children with both NDDs and EBPs appear to report poorer psychosocial functioning compared to their peers with neither condition. However, it is important to consider the context of socio-demographic characteristics, parenting behaviors and their interactions to understand differences in children's psychosocial functioning. Implication for Rehabilitation: Practitioners may wish to consider complexity in child health by examining a comprehensive set of determinants of psychosocial outcomes as well as comorbid conditions, such as neurodevelopmental disorders (NDDs) and externalizing

  7. Prediction of neurodevelopmental and sensory outcome at 5 years in Norwegian children born extremely preterm.

    Science.gov (United States)

    Leversen, Katrine Tyborg; Sommerfelt, Kristian; Rønnestad, Arild; Kaaresen, Per Ivar; Farstad, Theresa; Skranes, Janne; Støen, Ragnhild; Bircow Elgen, Irene; Rettedal, Siren; Egil Eide, Geir; Irgens, Lorentz M; Markestad, Trond

    2011-03-01

    To examine the prevalence of neurodevelopmental disability and the predictive value of pre-, peri-, and postnatal data on neurologic, sensory, cognitive, and motor function in children born extremely preterm. This was a prospective observational study of all infants born in Norway between 1999 and 2000 with gestational ages between 22 and 27 weeks or birth weights between 500 and 999 g. Cognitive function was assessed with the Wechsler Preschool and Primary Scale of Intelligence-Revised, motor function with the Movement Assessment Battery for Children, and severity of cerebral palsy with the Gross Motor Function Classification for Cerebral Palsy. Disabilities were described as mild, moderate, or severe. Of 371 eligible children, 306 (82%) were examined at a mean (SD) age of 5 years and 10 (4) months. For gestational age less than 28 weeks (n = 239), 26 (11%) children had cerebral palsy alone (n = 21) or in combination with blindness (n = 3) or deafness (n = 2); 1 was blind and 1 was deaf. Of the remaining children, the mean full-scale IQ was 94 ± 15, and significant predictors were (values given as the difference in IQ points [95% confidence intervals]) high maternal education (9.6 [5.7-13.4]), preeclampsia (-7.7 [-12.7 to -2.7]), and retinopathy of prematurity higher than grade 2 (-17.5 [-27.1 to -8.0]). Movement Assessment Battery for Children scores were positively associated with gestational age and prenatal steroids and negatively associated with being small for gestational age, male gender, and having retinopathy of prematurity. Moderate to severe neurodevelopmental disability was more common for gestational ages 25 weeks or less (28 of 87 children) than for 26 to 27 weeks (12 of 152 children; P children; P = .001). The outcome was poorer for children with gestational ages of 25 weeks or less compared with those with gestational ages between 26 and 27 weeks. For those without cerebral palsy, blindness, or deafness, however, gestational age had a limited

  8. T-cell Responses in Individuals Infected with Zika Virus and in Those Vaccinated Against Dengue Virus

    Directory of Open Access Journals (Sweden)

    Dominic Paquin-Proulx

    2017-06-01

    Full Text Available Background: The outbreak of Zika virus (ZIKV infection in Brazil has raised concerns that infection during pregnancy could cause microcephaly and other severe neurodevelopmental malformations in the fetus. The mechanisms by which ZIKV causes fetal abnormalities are largely unknown. The importance of pre-infection with dengue virus (DENV, or other flaviviruses endemic to Brazil, remains to be investigated. It has been reported that antibodies directed against DENV can increase ZIKV infectivity by antibody dependent enhancement (ADE, suggesting that a history of prior DENV infection might worsen the outcome of ZIKV infection. Methods: We used bioinformatics tools to design 18 peptides from the ZIKV envelope containing predicted HLA-I T-cell epitopes and investigated T-cell cross-reactivity between ZIKV-infected individuals and DENV-vaccinated subjects by IFNg ELISPOT. Results: Three peptides induced IFNg production in both ZIKV-infected subjects and in DENV-vaccinated individuals. Flow cytometry indicated that 1 ZIKV peptide induced a CD4+ T-cell response in DENV-vaccinated subjects. Conclusions: We demonstrated that vaccination against DENV induced a T-cell response against ZIKV and identified one such CD4+ T-cell epitope. The ZIKV-reactive CD4+ T cells induced by DENV vaccination and identified in this study could contribute to the appearance of cross-reactive antibodies mediating ADE.

  9. T-cell Responses in Individuals Infected with Zika Virus and in Those Vaccinated Against Dengue Virus.

    Science.gov (United States)

    Paquin-Proulx, Dominic; Leal, Fabio E; Terrassani Silveira, Cassia G; Maestri, Alvino; Brockmeyer, Claudia; Kitchen, Shannon M; Cabido, Vinicius D; Kallas, Esper G; Nixon, Douglas F

    2017-01-01

    The outbreak of Zika virus (ZIKV) infection in Brazil has raised concerns that infection during pregnancy could cause microcephaly and other severe neurodevelopmental malformations in the fetus. The mechanisms by which ZIKV causes fetal abnormalities are largely unknown. The importance of pre-infection with dengue virus (DENV), or other flaviviruses endemic to Brazil, remains to be investigated. It has been reported that antibodies directed against DENV can increase ZIKV infectivity by antibody dependent enhancement (ADE), suggesting that a history of prior DENV infection might worsen the outcome of ZIKV infection. We used bioinformatics tools to design 18 peptides from the ZIKV envelope containing predicted HLA-I T-cell epitopes and investigated T-cell cross-reactivity between ZIKV-infected individuals and DENV-vaccinated subjects by IFNγ ELISPOT. Three peptides induced IFNγ production in both ZIKV-infected subjects and in DENV-vaccinated individuals. Flow cytometry indicated that 1 ZIKV peptide induced a CD4+ T-cell response in DENV-vaccinated subjects. We demonstrated that vaccination against DENV induced a T-cell response against ZIKV and identified one such CD4+ T-cell epitope. The ZIKV-reactive CD4+ T cells induced by DENV vaccination and identified in this study could contribute to the appearance of cross-reactive antibodies mediating ADE.

  10. Insulin-Like Growth Factor 1 and Related Compounds in the Treatment of Childhood-Onset Neurodevelopmental Disorders

    Directory of Open Access Journals (Sweden)

    Cyrus Vahdatpour

    2016-09-01

    Full Text Available Insulin-Like Growth Factor 1 (IGF-1 is a neurotrophic polypeptide with crucial roles to play in Central Nervous System (CNS growth, development and maturation. Following interrogation of the neurobiology underlying several neurodevelopmental disorders and Autism Spectrum Disorders (ASD, both recombinant IGF-1 (mecasermin and related derivatives, such as (1-3 IGF-1, have emerged as potential therapeutic approaches. Clinical pilot studies and early reports have supported the safety/preliminary efficacy of IGF-1 and related compounds in the treatment of Rett Syndrome, with evidence mounting for its use in Phelan McDermid Syndrome and Fragile X Syndrome. In broader ASD, clinical trials are ongoing. Here, we review the role of IGF-1 in the molecular etiologies of these conditions in addition to the accumulating evidence from early clinical studies highlighting the possibility of IGF-1 and related compounds as potential treatments for these childhood-onset neurodevelopmental disorders.

  11. Generation of iPSC-derived Human Brain Organoids to Model Early Neurodevelopmental Disorders.

    Science.gov (United States)

    Gabriel, Elke; Gopalakrishnan, Jay

    2017-04-14

    The restricted availability of suitable in vitro models that can reliably represent complex human brain development is a significant bottleneck that limits the translation of basic brain research into clinical application. While induced pluripotent stem cells (iPSCs) have replaced the ethically questionable human embryonic stem cells, iPSC-based neuronal differentiation studies remain descriptive at the cellular level but fail to adequately provide the details that could be derived from a complex, 3D human brain tissue. This gap is now filled through the application of iPSC-derived, 3D brain organoids, "Brains in a dish," that model many features of complex human brain development. Here, a method for generating iPSC-derived, 3D brain organoids is described. The organoids can help with modeling autosomal recessive primary microcephaly (MCPH), a rare human neurodevelopmental disorder. A widely accepted explanation for the brain malformation in MCPH is a depletion of the neural stem cell pool during the early stages of human brain development, a developmental defect that is difficult to recreate or prove in vitro. To study MCPH, we generated iPSCs from patient-derived fibroblasts carrying a mutation in the centrosomal protein CPAP. By analyzing the ventricular zone of microcephaly 3D brain organoids, we showed the premature differentiation of neural progenitors. These 3D brain organoids are a powerful in vitro system that will be instrumental in modeling congenital brain disorders induced by neurotoxic chemicals, neurotrophic viral infections, or inherited genetic mutations.

  12. Sleep Spindle Characteristics in Children with Neurodevelopmental Disorders and Their Relation to Cognition

    Directory of Open Access Journals (Sweden)

    Reut Gruber

    2016-01-01

    Full Text Available Empirical evidence indicates that sleep spindles facilitate neuroplasticity and “off-line” processing during sleep, which supports learning, memory consolidation, and intellectual performance. Children with neurodevelopmental disorders (NDDs exhibit characteristics that may increase both the risk for and vulnerability to abnormal spindle generation. Despite the high prevalence of sleep problems and cognitive deficits in children with NDD, only a few studies have examined the putative association between spindle characteristics and cognitive function. This paper reviews the literature regarding sleep spindle characteristics in children with NDD and their relation to cognition in light of what is known in typically developing children and based on the available evidence regarding children with NDD. We integrate available data, identify gaps in understanding, and recommend future research directions. Collectively, studies are limited by small sample sizes, heterogeneous populations with multiple comorbidities, and nonstandardized methods for collecting and analyzing findings. These limitations notwithstanding, the evidence suggests that future studies should examine associations between sleep spindle characteristics and cognitive function in children with and without NDD, and preliminary findings raise the intriguing question of whether enhancement or manipulation of sleep spindles could improve sleep-dependent memory and other aspects of cognitive function in this population.

  13. [Effects of early neurodevelopmental treatment on motor and cognitive development of critically ill premature infants].

    Science.gov (United States)

    Li, Na; Kang, Lin-Min; Wang, Qiu; Yu, Tao; Ma, Dan; Luo, Rong

    2013-03-01

    To study the effects of neurodevelopmental treatment (NDT) on motor and cognitive development of critically ill premature infants. There were 203 infants, who were less than 32 week gestational age (GA), with very-low-birth weight, were included in the study. The infants were assigned to NDT group (n = 96) or control group (n = 107) according to the parent's decision. The infants in NDT group received NDT intervention once per week from corrected age (CA) 1 month to 3 months, and 3 to 5 times per week in the following 9 months. NDT intervention included elongation, establishing alignment, optimizing base of support, facilitation and inhibition, stimulation for activating muscle activity. Both groups received family intervention, such as massage and exercise based on early education. Bayley Scales of Infant Development-II (BSID-II) score was assessed at 3,6,9,12 months CA for all the infants. NDT intervention achieved significant effects on motor and cognitive development. Mental development index (MDI) and psychomotor development index (PDI) of BSID-II were significant higher in NDT group (P children in NDT group (16.67%) and 12 (12.12%) in control group at 12 months CA, there was no significant difference between the two groups (P > 0.05). NDT intervention can improve motor and cognitive development in critically ill premature infants within 12 months CA.

  14. Development of comorbid crying, sleeping, feeding problems across infancy: Neurodevelopmental vulnerability and parenting.

    Science.gov (United States)

    Bilgin, Ayten; Wolke, Dieter

    2017-06-01

    Regulatory problems (excessive crying, feeding, and sleeping difficulties), specifically their comorbidity, are early warning signs of future problems. Insensitive parenting and neurodevelopmental vulnerabilities have been suggested as factors explaining development or maintenance of regulatory problems. Nevertheless, none of the previous studies investigated these factors within the same sample across infancy, taking into account the reciprocal influences between maternal sensitivity and regulatory problems. To investigate the prospective association between very preterm birth, comorbid regulatory problems and maternal sensitivity. 178 participants including 73 very preterm/very low birth weight and 105 full-term infants and their caretakers. A prospective study from birth to 18months. Regulatory problems were measured at term, 3months and 18months with a structured parental interview. Maternal sensitivity was measured with a nurse observation at term; and a researcher observation of play tasks at 3months and at 18months. Very preterm birth was associated with regulatory problems at term (β=0.19, SE=0.10, pproblems across infancy. Maternal sensitivity at term had a negative association to regulatory problems at 3months (β=-0.26, SE=0.12, pproblems in comparison to sensitive parenting. Copyright © 2017. Published by Elsevier B.V.

  15. Myelination deficit in a phencyclidine-induced neurodevelopmental model of schizophrenia.

    Science.gov (United States)

    Zhang, Ruiguo; He, Jue; Zhu, Shenghua; Zhang, Handi; Wang, Hongxing; Adilijiang, Abulimiti; Kong, Lynda; Wang, Junhui; Kong, Jiming; Tan, Qingrong; Li, Xin-Min

    2012-08-21

    Increasing evidence supports an important role of oligodendrocytes and myelination in the pathogenesis of schizophrenia. Oligodendrocytes are the myelin-producing cells in the central nervous system. To test the myelination dysfunction hypothesis of schizophrenia, possible myelination dysfunction was evaluated in a phencyclidine (PCP)-induced neurodevelopmental model of schizophrenia. On postnatal day (PND) 2, rat pups were treated with a total 14 subcutaneous daily injections of PCP (10mg/kg) or saline. PCP-injected rats showed schizophrenia-like behaviors including hyper-locomotor activity on PND 30 and prepulse inhibition deficit on PND 31. Cerebral myelination was measured by the expression of myelin basic protein (MBP), and cerebral mature oligodendrocytes were measured by the expression of glutathione S-transferase (GST)-π in rats. The results indicate that the expressions of MBP on PND 16, 22 and 32 and GST-π on PND 22 decreased in the frontal cortex of PCP-injected rats. Our results suggest that there was myelination impairment in the phencyclidine-induced schizophrenia animal model, and indicate that myelination may play an important role in the pathogenesis of schizophrenia. Copyright © 2012 Elsevier B.V. All rights reserved.

  16. Prenatal and postnatal animal models of immune activation: relevance to a range of neurodevelopmental disorders.

    Science.gov (United States)

    Harvey, Louise; Boksa, Patricia

    2012-10-01

    Epidemiological evidence has established links between immune activation during the prenatal or early postnatal period and increased risk of developing a range of neurodevelopment disorders in later life. Animal models have been used to great effect to explore the ramifications of immune activation during gestation and neonatal life. A range of behavioral, neurochemical, molecular, and structural outcome measures associated with schizophrenia, autism, cerebral palsy, and epilepsy have been assessed in models of prenatal and postnatal immune activation. However, the epidemiology-driven disease-first approach taken by some studies can be limiting and, despite the wealth of data, there is a lack of consensus in the literature as to the specific dose, timing, and nature of the immunogen that results in replicable and reproducible changes related to a single disease phenotype. In this review, we highlight a number of similarities and differences in models of prenatal and postnatal immune activation currently being used to investigate the origins of schizophrenia, autism, cerebral palsy, epilepsy, and Parkinson's disease. However, we describe a lack of synthesis not only between but also within disease-specific models. Our inability to compare the equivalency dose of immunogen used is identified as a significant yet easily remedied problem. We ask whether early life exposure to infection should be described as a disease-specific or general vulnerability factor for neurodevelopmental disorders and discuss the implications that either classification has on the design, strengths and limitations of future experiments. Copyright © 2012 Wiley Periodicals, Inc.

  17. The neurodevelopmental differences of increasing verbal working memory demand in children and adults

    Directory of Open Access Journals (Sweden)

    V.M. Vogan

    2016-02-01

    We used fMRI and a 1-back verbal WM task with six levels of difficulty to examine the neurodevelopmental changes in WM function in 40 participants, twenty-four children (ages 9–15 yr and sixteen young adults (ages 20–25 yr. Children and adults both demonstrated an opposing system of cognitive processes with increasing cognitive demand, where areas related to WM (frontal and parietal regions increased in activity, and areas associated with the default mode network decreased in activity. Although there were many similarities in the neural activation patterns associated with increasing verbal WM capacity in children and adults, significant changes in the fMRI responses were seen with age. Adults showed greater load-dependent changes than children in WM in the bilateral superior parietal gyri, inferior frontal and left middle frontal gyri and right cerebellum. Compared to children, adults also showed greater decreasing activation across WM load in the bilateral anterior cingulate, anterior medial prefrontal gyrus, right superior lateral temporal gyrus and left posterior cingulate. These results demonstrate that while children and adults activate similar neural networks in response to verbal WM tasks, the extent to which they rely on these areas in response to increasing cognitive load evolves between childhood and adulthood.

  18. Fear memory in a neurodevelopmental model of schizophrenia based on the postnatal blockade of NMDA receptors.

    Science.gov (United States)

    Latusz, Joachim; Radaszkiewicz, Aleksandra; Bator, Ewelina; Wędzony, Krzysztof; Maćkowiak, Marzena

    2017-02-01

    Epidemiological data have indicated that memory impairment is observed during adolescence in groups at high risk for schizophrenia and might precede the appearance of schizophrenia symptoms in adulthood. In the present study, we used a neurodevelopmental model of schizophrenia based on the postnatal blockade of N-methyl-d-aspartate (NMDA) receptors in rats to investigate fear memory in adolescence and adulthood. The rats were treated with increasing doses of CGP 37849 (CGP), a competitive antagonist of the NMDA receptor (1.25mg/kg on days 1, 3, 6, 9; 2.5mg/kg on days 12, 15, 18 and 5mg/kg on day 21). Fear memory was analysed in delay and trace fear conditioning. Sensorimotor gating deficit, which is another cognitive symptom of schizophrenia, was also determined in adolescent and adult CGP-treated rats. Postnatal CGP administration disrupted cue- and context-dependent fear memory in adolescent rats in both delay and trace conditioning. In contrast, CGP administration evoked impairment only in cue-dependent fear memory in rats exposed to trace but not delay fear conditioning. The postnatal blockade of NMDA receptors induced sensorimotor gating deficits in adult rats but not in adolescent rats. The postnatal blockade of NMDA receptors induced fear memory impairment in adolescent rats before the onset of neurobehavioral deficits associated with schizophrenia. Copyright © 2016. Published by Elsevier Urban & Partner Sp. z o.o.

  19. Reduced fetal movements and maternal medication - new pregnancy risk factors for neurodevelopmental disability in childhood.

    Science.gov (United States)

    James, D K; Telfer, F M; Keating, N A; Blair, M E; Wilcox, M A; Chilvers, C

    2000-05-01

    A case-control study was undertaken of 471 children on the Nottingham Special Needs Register (SNR) who were born in one of the two maternity units in the city between 1987 and 1993 (inclusive). Controls were selected as the next infant born at the same hospital following each index case. The aim of the study was to identify risk factors on the Nottingham Obstetric Database for a baby subsequently appearing on the SNR. Disability was analysed by both ICD-9 coding and functional assessment. Factors which independently and significantly predicted a child's likelihood of being on the SNR were breech presentation (adjusted odds ratio (OR) = 4.0), congenital abnormality (OR=4.9), intrapartum fetal distress (OR=1.7), fetal growth restriction (OR=2.0), socioeconomic deprivation (OR=1.8), prematurity (OR=2.2), reduced fetal movements (OR=2.5) and medication in pregnancy (OR=10.4). To our knowledge the last two factors have not previously been reported as risk predictors for neurodevelopmental disability.

  20. Efficacy of Intensive Neurodevelopmental Treatment for Children With Developmental Delay, With or Without Cerebral Palsy.

    Science.gov (United States)

    Lee, Kyoung Hwan; Park, Jin Woo; Lee, Ho Jun; Nam, Ki Yeun; Park, Tae June; Kim, Hee Jae; Kwon, Bum Sun

    2017-02-01

    To evaluate the effectiveness of intensive neurodevelopmental treatment (NDT) on gross motor function for the children having developmental delay (DD), with or without cerebral palsy (CP). Forty-two children had intensive NDT three times weekly, 60 minutes a day, for 3 months, immediately followed by conventional NDT once or twice a week, 30 minutes a day, for another 3 months. We assessed Gross Motor Function Measure (GMFM) over three time points: before conventional NDT, before and after intensive NDT, and after 3 months of additional conventional NDT. The GMFM score in DD children significantly improved after intensive NDT, and the improvement maintained after 3 months of conventional NDT (pintensive NDT (ptreatment efficacy between the two groups. When we calculate the absence rate for comparing the compliance between intensive and conventional NDT, the absence rate was lower during the intensive NDT. Intensive NDT showed significantly improved gross motor function and higher compliance than conventional NDT. Additionally, all improvements were maintained through subsequent short-term conventional NDT. Thus, we recommend the intensive NDT program by day-hospital centers for children with DD, irrespective of accompanying CP.

  1. Emphasizing the Health Benefits of Vitamin D for Those with Neurodevelopmental Disorders and Intellectual Disabilities

    Directory of Open Access Journals (Sweden)

    William B. Grant

    2015-02-01

    Full Text Available People with neurodevelopmental disorders and intellectual disabilities have much greater health care needs. Mainly staying indoors, such people generally have low 25-hydroxyvitamin D (25(OHD concentrations. The Vitamin D Task Force of the American Academy of Developmental Medicine and Dentistry (AADMD reviewed the evidence of 25(OHD concentrations that benefit the health of persons with developmental disabilities. Maintaining recommended optimal serum 25(OHD concentrations year long will benefit skeletal development in infants, children, and adolescents, and benefit musculoskeletal health and neuromuscular coordination in adult patients, and decrease risk of falls. Maintaining optimal concentrations decreases risks and severities of autoimmune diseases, cardiovascular disease, many types of cancer, dementia, types 1 and 2 diabetes mellitus, and respiratory tract infections. Other benefits include improved dental and oral health and improved physical performance. The Task Force recommends that 25(OHD concentrations for optimal health to be in the range of 75 to 125 nmol/L, which can be achieved using between 800 and 4000 IU/day vitamin D3 and sensible exposure to solar UVB radiation. The paper also discusses the potential risks of higher 25(OHD concentrations, the evidence from and limitations of randomized controlled trials, and the recommendations by various groups and agencies.

  2. Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.

    Science.gov (United States)

    Hori, Ikumi; Otomo, Takanobu; Nakashima, Mitsuko; Miya, Fuyuki; Negishi, Yutaka; Shiraishi, Hideaki; Nonoda, Yutaka; Magara, Shinichi; Tohyama, Jun; Okamoto, Nobuhiko; Kumagai, Takeshi; Shimoda, Konomi; Yukitake, Yoshiya; Kajikawa, Daigo; Morio, Tomohiro; Hattori, Ayako; Nakagawa, Motoo; Ando, Naoki; Nishino, Ichizo; Kato, Mitsuhiro; Tsunoda, Tatsuhiko; Saitsu, Hirotomo; Kanemura, Yonehiro; Yamasaki, Mami; Kosaki, Kenjiro; Matsumoto, Naomichi; Yoshimori, Tamotsu; Saitoh, Shinji

    2017-06-14

    Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, developmental delay, and hypopigmentation. Mutations in EPG5, a gene that encodes a key autophagy regulator, have been shown to cause VICIS, however, the precise pathomechanism underlying VICIS is yet to be clarified. Here, we describe detailed clinical (including brain MRI and muscle biopsy) and genetic features of nine Japanese patients with VICIS. Genetic dissection of these nine patients from seven families identified 14 causative mutations in EPG5. These included five nonsense, two frameshift, three splicing, one missense, and one multi-exon deletion mutations, and two initiation codon variants. Furthermore, cultured skin fibroblasts (SFs) from two affected patients demonstrated partial autophagic dysfunction. To investigate the function of EPG5, siRNA based EPG5 knock-down, and CRISPR/Cas9 mediated EPG5 knock-out HeLa cells were generated. EPG5-depleted cells exhibited a complete block of autophagic flux caused by defective autophagosome-lysosome fusion. Unexpectedly, endocytic degradation was normal in both VICIS SFs and EPG5 depleted cells, suggesting that EPG5 function is limited to the regulation of autophagosome-lysosome fusion.

  3. Investigating mechanisms underlying neurodevelopmental phenotypes of autistic and intellectual disability disorders: a perspective

    Directory of Open Access Journals (Sweden)

    Tim eKroon

    2013-10-01

    Full Text Available Brain function and behaviour undergo significant plasticity and refinement, particularly during specific critical and sensitive periods. In autistic and intellectual disability neurodevelopmental disorders (NDDs and their corresponding genetic mouse models, impairments in many neuronal and behavioural phenotypes are temporally regulated and in some cases, transient. However, the links between neurobiological mechanisms governing typically normal brain and behavioural development (referred to also as ‘neurotypical’ development and timing of NDD impairments are not fully investigated.This perspective highlights temporal patterns of synaptic and neuronal impairment, with a restricted focus on autism and intellectual disability types of NDDs. Given the varying known genetic and environmental causes for NDDs, this perspective proposes two strategies for investigation: (1 a focus on neurobiological mechanisms underlying known critical periods in the (typically normal-developing brain (2 investigation of spatio-temporal expression profiles of genes implicated in monogenic syndromes throughout affected brain regions.This approach may help explain why many NDDs with differing genetic causes can result in overlapping phenotypes at similar developmental stages and better predict vulnerable periods within these disorders, with implications for both therapeutic rescue and ultimately, prevention.

  4. Emphasizing the health benefits of vitamin D for those with neurodevelopmental disorders and intellectual disabilities.

    Science.gov (United States)

    Grant, William B; Wimalawansa, Sunil J; Holick, Michael F; Cannell, John J; Pludowski, Pawel; Lappe, Joan M; Pittaway, Mary; May, Philip

    2015-02-27

    People with neurodevelopmental disorders and intellectual disabilities have much greater health care needs. Mainly staying indoors, such people generally have low 25-hydroxyvitamin D (25(OH)D) concentrations. The Vitamin D Task Force of the American Academy of Developmental Medicine and Dentistry (AADMD) reviewed the evidence of 25(OH)D concentrations that benefit the health of persons with developmental disabilities. Maintaining recommended optimal serum 25(OH)D concentrations year long will benefit skeletal development in infants, children, and adolescents, and benefit musculoskeletal health and neuromuscular coordination in adult patients, and decrease risk of falls. Maintaining optimal concentrations decreases risks and severities of autoimmune diseases, cardiovascular disease, many types of cancer, dementia, types 1 and 2 diabetes mellitus, and respiratory tract infections. Other benefits include improved dental and oral health and improved physical performance. The Task Force recommends that 25(OH)D concentrations for optimal health to be in the range of 75 to 125 nmol/L, which can be achieved using between 800 and 4000 IU/day vitamin D3 and sensible exposure to solar UVB radiation. The paper also discusses the potential risks of higher 25(OH)D concentrations, the evidence from and limitations of randomized controlled trials, and the recommendations by various groups and agencies.

  5. Neurodevelopmental outcome of extremely preterm infants born to rural and urban residents' mothers in Australia.

    Science.gov (United States)

    Rodrigues, Andrea N; Bajuk, Barbara; Oei, Julee; Lui, Kei; Abdel-Latif, Mohamed E

    2015-08-01

    Rural and remote residents in Australia have long experienced unfavourable health outcomes compared to their urban counterparts. To study neurodevelopmental outcome at 2-3 years of age, corrected for prematurity of extremely preterm infants admitted to a regional neonatal Australian network from rural and urban regions (based on usual location of maternal residence). A multicenter population-based cohort study in which surviving urban and rural infants functional disability was defined as developmental delay (GQ or MDI>2 SD below the mean), cerebral palsy (aided for walking), sensorineural or conductive deafness (requiring amplification), and bilateral blindness (visual acuity urban infants were evaluated. Infants lost to follow-up were of slightly higher gestational age and birth weight. Both rural and urban assessed groups were comparable in gestation and birth weight percentile. In comparison to their urban counterparts, the rural group had more outborn infants (19.8% vs. 4.6%, pfunctional disability (OR 0.77, 95% CI 0.52-1.23, p=0.176). This finding was not significantly altered by limiting the analysis to different gestational ages. Extremely premature surviving young children from rural areas of residence do not seem to have an increased risk for moderate/severe functional disability. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  6. Neurodevelopmental correlates of proneness to guilt and shame in adolescence and early adulthood

    Directory of Open Access Journals (Sweden)

    Sarah Whittle

    2016-06-01

    Full Text Available Investigating how brain development during adolescence and early adulthood underlies guilt- and shame-proneness may be important for understanding risk processes for mental disorders. The aim of this study was to investigate the neurodevelopmental correlates of interpersonal guilt- and shame-proneness in healthy adolescents and young adults using structural magnetic resonance imaging (sMRI. Sixty participants (age range: 15–25 completed sMRI and self-report measures of interpersonal guilt- and shame-proneness. Independent of interpersonal guilt, higher levels of shame-proneness were associated with thinner posterior cingulate cortex (PCC thickness and smaller amygdala volume. Higher levels of shame-proneness were also associated with attenuated age-related reductions in thickness of lateral orbitofrontal cortex (lOFC. Our findings highlight the complexities in understanding brain–behavior relationships during the adolescent/young adult period. Results were consistent with growing evidence that accelerated cortical thinning during adolescence may be associated with superior socioemotional functioning. Further research is required to understand the implications of these findings for mental disorders characterized by higher levels of guilt and shame.

  7. DRAWING SKILLS IN CHILDREN WITH NEURODEVELOPMENTAL DELAY AGED 2-5 YEARS.

    Science.gov (United States)

    Morović, Maja Lang; Matijević, Valentina; Divljaković, Kristina; Kraljević, Marija; Dimić, Zdenka

    2015-06-01

    In typically developing children, drawing development occurs in stages from uncontrolled strokes to complex drawing. In this study, we examined drawing development in children with neurodevelopmental delay (NDD). In order to do so, we observed the influence of age, intraventricular hemorrhage (IVH) and gender on the development of drawing skills. The sample consisted of 52 children with NDD, aged 2 years and 6 months to 5 years. All children were hospitalized for multidisciplinary team monitoring and developmental support. The evaluation of drawing development was administered by giving each child a blank A4 paper and the instruction to draw anything they wanted. All of the drawings were scored satisfactory or unsatisfactory. Descriptive statistics was employed on all relevant data to show results in frequencies and percentages. In order to determine differences between groups, the χ2-test was administered. The results showed greatest difference in drawing in children aged from 3 years to 3 years and 11 months. Children with lower IVH had better drawing scores than children with higher IVH levels. According to gender dissimilarities, a difference was found showing girls to have better drawing skills than boys. All study results pointed to the importance of early rehabilitation and continuous structured work with children with NDD.

  8. Emphasizing the Health Benefits of Vitamin D for Those with Neurodevelopmental Disorders and Intellectual Disabilities

    Science.gov (United States)

    Grant, William B.; Wimalawansa, Sunil J.; Holick, Michael F.; Cannell, John J.; Pludowski, Pawel; Lappe, Joan M.; Pittaway, Mary; May, Philip

    2015-01-01

    People with neurodevelopmental disorders and intellectual disabilities have much greater health care needs. Mainly staying indoors, such people generally have low 25-hydroxyvitamin D (25(OH)D) concentrations. The Vitamin D Task Force of the American Academy of Developmental Medicine and Dentistry (AADMD) reviewed the evidence of 25(OH)D concentrations that benefit the health of persons with developmental disabilities. Maintaining recommended optimal serum 25(OH)D concentrations year long will benefit skeletal development in infants, children, and adolescents, and benefit musculoskeletal health and neuromuscular coordination in adult patients, and decrease risk of falls. Maintaining optimal concentrations decreases risks and severities of autoimmune diseases, cardiovascular disease, many types of cancer, dementia, types 1 and 2 diabetes mellitus, and respiratory tract infections. Other benefits include improved dental and oral health and improved physical performance. The Task Force recommends that 25(OH)D concentrations for optimal health to be in the range of 75 to 125 nmol/L, which can be achieved using between 800 and 4000 IU/day vitamin D3 and sensible exposure to solar UVB radiation. The paper also discusses the potential risks of higher 25(OH)D concentrations, the evidence from and limitations of randomized controlled trials, and the recommendations by various groups and agencies. PMID:25734565

  9. Neurodevelopmental Plasticity in Pre- and Postnatal Environmental Interactions: Implications for Psychiatric Disorders from an Evolutionary Perspective

    Directory of Open Access Journals (Sweden)

    Young-A Lee

    2015-01-01

    Full Text Available Psychiatric disorders are disadvantageous behavioral phenotypes in humans. Accordingly, a recent epidemiological study has reported decreased fecundity in patients with psychiatric disorders, such as schizophrenia and autism spectrum disorders. Moreover, the fecundity of the relatives of these patients is not exceedingly higher compared to the fecundity of the relatives of normal subjects. Collectively, the prevalence of psychiatric disorders among humans is expected to decrease over generations. Nevertheless, in reality, the prevalence rates of psychiatric disorders in humans either have been constant over a long period of time or have even increased more recently. Several attempts to explain this fact have been made using biological mechanisms, such as de novo gene mutations or variants, although none of these explanations is fully comprehensive. Here, we propose a hypothesis towards understanding the biological mechanisms of psychiatric disorders from evolutionary perspectives. This hypothesis considers that behavioral phenotypes associated with psychiatric disorders might have emerged in the evolution of organisms as a neurodevelopmental adaptation against adverse environmental conditions associated with stress.

  10. The Role of Noncoding RNAs in Neurodevelopmental Disorders: The Case of Rett Syndrome.

    Science.gov (United States)

    Obiols-Guardia, Aida; Guil, Sònia

    2017-01-01

    Current technologies have demonstrated that only a small fraction of our genes encode for protein products. The vast majority of the human transcriptome corresponds to noncoding RNA (ncRNA) of different size, localization, and expression profile. Despite the fact that a biological function remains yet to be determined for most ncRNAs, growing evidence points to their crucial regulatory roles at all stages in gene expression regulation, including transcriptional and posttranscriptional control, so that proper cell homeostasis seems to depend largely on a variety of ncRNA-mediated regulatory networks. This is particularly relevant in the human brain, which displays the richest repertoire of ncRNA species, and where several different ncRNA molecules are known to be involved in crucial steps for brain development and maturation. Rett syndrome is a neurodevelopmental disorder characterized by loss of function mutations in the X-linked gene encoding for methyl-CpG-binding protein 2 (MeCP2). MECP2 deficiency impacts globally on gene expression programs, mainly through its role as a transcriptional repressor, and growing data also points to an important dysregulation of the noncoding transcriptome in the disease. Here, we review the current knowledge on ncRNA alterations in Rett and explore links with other pathologies that might indicate the potential use of particular noncoding transcripts as therapeutical targets, tools, or disease biomarkers.

  11. Neurodevelopmental outcome in twin anemia-polycythemia sequence after laser surgery for twin-twin transfusion syndrome.

    Science.gov (United States)

    Slaghekke, F; van Klink, J M M; Koopman, H M; Middeldorp, J M; Oepkes, D; Lopriore, E

    2014-09-01

    To evaluate the long-term neurodevelopmental outcome in children who developed twin anemia-polycythemia sequence (TAPS) after fetoscopic laser surgery for twin-twin transfusion syndrome (TTTS). Neurological, motor and cognitive development was assessed in a consecutive cohort of TTTS survivors treated with laser surgery between 2004 and 2011 and complicated by post-laser TAPS. Primary outcome was neurodevelopmental impairment, a composite outcome including any of the following: cerebral palsy, bilateral deafness, blindness, severe motor and/or cognitive developmental delay (>2 SD below the mean). A risk analysis on cognitive outcome was performed. During the study period, 33/306 (11%) monochorionic twin pairs developed TAPS after laser surgery for TTTS. Survival was 53/66 (80%). Long-term outcome was assessed in 47/53 (89%) children. The incidence of neurodevelopmental impairment was 4/47 (9%), occurring in one donor (1/20; 5%) and three recipients (3/27; 11%) (P=0.63). Mild-to-moderate cognitive delay, i.e. scores below 85, was detected in 8/47 (17%) children. Risk factors for low cognitive scores were low gestational age at birth (P=0.02) and low birth weight (P<0.01). The lowest cognitive scores were detected in the subgroup of TAPS survivors treated with intrauterine transfusion (median score, 82.5). Neurodevelopmental impairment and cognitive delay were found in almost one in five children surviving post-laser TAPS. Better treatment and, ideally, prevention of this complication after laser treatment for TTTS is urgently needed. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

  12. Neurodevelopmental outcomes at 5 years in children exposed prenatally to maternal dental amalgam: The Seychelles Child Development Nutrition Study

    OpenAIRE

    Watson, Gene E.; van Wijngaarden, Edwin; Love, Tanzy M. T.; McSorley, Emeir M.; Bonham, Maxine P; Mulhern, Maria S; Yeates, Alison J; Davidson, Philip W.; Shamlaye, Conrad F; Strain, J. J.; Thurston, Sally W.; Harrington, Donald; Zareba, Grazyna; Wallace, Julie M. W.; Myers, Gary J

    2013-01-01

    Limited human data are available to assess the association between prenatal mercury vapor (Hg0) exposure from maternal dental amalgam restorations and neurodevelopment of children. We evaluated the association between maternal dental amalgam status during gestation and children’s neurodevelopmental outcomes at 5 years in the Seychelles Child Development Nutrition Study (SCDNS). Maternal amalgam status was determined prospectively in a longitudinal cohort study examining the associations of pr...

  13. Beyond survival: 5-year neurodevelopmental follow-up of a cohort of preterm infants in Colombo, Sri Lanka.

    Science.gov (United States)

    Sumanasena, S P; Vipulaguna, D V; Mendis, M M; Gunawardena, N S

    2017-10-18

    There is a lack of information on long-term neurodevelopmental outcome in preterm neonates in low- and middle-income countries. To describe the developmental attainments of preterm neonates followed up for 5 years and to identify the risk factors for impairment. A prospective descriptive cohort study was undertaken in neonates of 34 weeks gestation born within a period of 12 months at a single tertiary maternity and neonatal unit in Colombo, Sri Lanka. Infants were assessed for neurodevelopment using the Bayley Infant and Toddler III® Assessments at 6, 12 and 24 months of corrected age and school readiness assessment at 5 years. Fifty-one infants were assessed at least once, 45 were assessed at 2 years and 39 had a final assessment at 5 years. Neurodevelopmental attainment deteriorated significantly in the cognitive and motor composite scores from 6 to 24 months (p < 0.05). By 5 years the number of children with delay in cognitive, language and motor domains had reduced significantly from 24 months (p < 0.05) but the cognitive skills remained most affected (10/39). At 5 years, 13 of 39 children had a confirmed diagnosis of a neurodevelopmental disorder: eight had attention deficit hyperactivity disorder, three autism spectrum disorder, one cerebral palsy and one visual impairment. Surfactant administration and retinopathy of prematurity were the most significant risks for delayed development at 5 years (p < 0.05). Deterioration of cognitive and motor composite scores over the first 24 months highlights the need for regular surveillance of premature infants. There was a discrepancy between the diagnosis of neurodevelopmental delay at 24 months and at 5 years. But the notable impact on school readiness skills requires public health initiatives to cater for the needs of these children.

  14. High prevalence of developmental concern amongst infants at 12 months following hospitalised parechovirus infection.

    Science.gov (United States)

    Britton, Philip N; Khandaker, Gulam; Khatami, Ameneh; Teutsch, Suzy; Francis, Stephanie; McMullan, Brendan J; Jones, Cheryl A

    2017-09-28

    The human parechovirus (HPeV) is an increasingly recognised cause of sepsis and central nervous system infection in young infants for which there are limited long-term outcome data. We aimed to assess neurodevelopmental outcome and quality of life in infants following hospitalised HPeV infection. This cohort study was a 12-month follow-up of infants who were hospitalised with confirmed HPeV infection at the Sydney Children's Hospitals Network during an outbreak in Sydney in 2013. Telephone interviews were conducted with parents/guardians. We administered standardised questionnaires, including: Ages and Stages Questionnaire (ASQ), Liverpool Outcome Score-follow-up, Pediatric Quality of Life Inventory(PedsQL) Infant scales and Short-Form health survey (SF-12). We followed up 46 of 79 infants (58%) aged between 12 and 16 months who had been hospitalised with HPeV infection; 19% showed significant concern in developmental attainment (ASQ3 score <2 standard deviation below population mean), and 50% showed some concern (<1 standard deviation below mean). ASQ3 developmental outcome was associated with the presence of neurodevelopmental sequelae (lower total Liverpool Outcome Score) and poorer health-related quality of life (HRQOL) in physical functioning (PedsQL physical component score), but not overall HRQOL (total PedsQL score) or parental HRQOL (SF-12 scores). No significant associations were identified between clinical or laboratory features during acute hospitalisation and adverse outcome on ASQ3. A high proportion of infants show developmental concern at 12-month follow-up post-hospitalisation with HPeV infection. Clinical features during hospitalisation were not associated with adverse outcomes at 12 months. These results suggest that careful follow-up of young infants hospitalised with HPeV disease may be warranted. © 2017 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).

  15. Effect of neurodevelopmental treatment-based physical therapy on the change of muscle strength, spasticity, and gross motor function in children with spastic cerebral palsy

    National Research Council Canada - National Science Library

    Park, Eun-Young; Kim, Won-Ho

    2017-01-01

    [Purpose] This study aimed to investigate the effectiveness of neurodevelopmental treatment-based physical therapy on muscle tone, strength, and gross motor function in children with spastic cerebral palsy...

  16. The Endosome Localized Arf-GAP AGAP1 Modulates Dendritic Spine Morphology Downstream of the Neurodevelopmental Disorder Factor Dysbindin

    Directory of Open Access Journals (Sweden)

    Miranda Arnold

    2016-09-01

    Full Text Available AGAP1 is an Arf1 GTPase activating protein that interacts with the vesicle-associated protein complexes adaptor protein 3 (AP-3 and Biogenesis of Lysosome Related Organelles Complex-1 (BLOC-1. Overexpression of AGAP1 in non-neuronal cells results in an accumulation of endosomal cargoes, which suggests a role in endosome-dependent traffic. In addition, AGAP1 is a candidate susceptibility gene for two neurodevelopmental disorders, autism spectrum disorder (ASD and schizophrenia (SZ; yet its localization and function in neurons have not been described. Here, we describe that AGAP1 localizes to axons, dendrites, dendritic spines, and synapses, colocalizing preferentially with markers of early and recycling endosomes. Functional studies reveal overexpression and down-regulation of AGAP1 affects both neuronal endosomal trafficking and dendritic spine morphology, supporting a role for AGAP1 in the recycling endosomal trafficking involved in their morphogenesis. Finally, we determined the sensitivity of AGAP1 expression to mutations in the DTNBP1 gene, which is associated with neurodevelopmental disorder, and found that AGAP1 mRNA and protein levels are selectively reduced in the null allele of the mouse orthologue of DTNBP1. We postulate that endosomal trafficking contributes to the pathogenesis of neurodevelopmental disorders affecting dendritic spine morphology, and thus excitatory synapse structure and function.

  17. Neurodevelopmental Outcome in Children after Fetal Cardiac Intervention for Aortic Stenosis with Evolving Hypoplastic Left Heart Syndrome.

    Science.gov (United States)

    Laraja, Kristin; Sadhwani, Anjali; Tworetzky, Wayne; Marshall, Audrey C; Gauvreau, Kimberlee; Freud, Lindsay; Hass, Cara; Dunbar-Masterson, Carolyn; Ware, Janice; Lafranchi, Terra; Wilkins-Haug, Louise; Newburger, Jane W

    2017-05-01

    To characterize neurodevelopmental outcomes after fetal aortic valvuloplasty for evolving hypoplastic left heart syndrome and determine the risk factors for adverse neurodevelopment. Questionnaires were mailed to families of children who underwent fetal aortic valvuloplasty from 2000 to 2012, and medical records were reviewed retrospectively. The primary outcome was the General Adaptive Composite score of the Adaptive Behavior Assessment System Questionnaire-Second Edition. Other questionnaires included the Behavior Assessment System for Children, Behavior Rating Inventory of Executive Function, Ages and Stages, and Pediatric Quality of Life Inventory. Among 69 eligible subjects, 52 (75%) completed questionnaires at median age of 5.5 (range 1.3-12) years; 30 (58%) had biventricular status circulation. The General Adaptive Composite mean score (92 ± 17) was lower than population norms (P Children, Behavior Rating Inventory of Executive Function, Ages and Stages, Pediatric Quality of Life Inventory), most subscale scores for patients with biventricular and single ventricular status were similar. Children who underwent fetal aortic valvuloplasty have neurodevelopmental delay, similar to patients with hypoplastic left heart syndrome without fetal intervention. Achievement of biventricular circulation was not associated with better outcomes. We infer that innate patient factors and morbidity during infancy have the greatest effect on neurodevelopmental outcomes. Copyright © 2017 Elsevier Inc. All rights reserved.

  18. Neurodevelopmental disorders: cluster 2 of the proposed meta-structure for DSM-V and ICD-11.

    Science.gov (United States)

    Andrews, G; Pine, D S; Hobbs, M J; Anderson, T M; Sunderland, M

    2009-12-01

    DSM-IV and ICD-10 are atheoretical and largely descriptive. Although this achieves good reliability, the validity of diagnoses can be increased by an understanding of risk factors and other clinical features. In an effort to group mental disorders on this basis, five clusters have been proposed. We now consider the second cluster, namely neurodevelopmental disorders. We reviewed the literature in relation to 11 validating criteria proposed by a DSM-V Task Force Study Group. This cluster reflects disorders of neurodevelopment rather than a 'childhood' disorders cluster. It comprises disorders subcategorized in DSM-IV and ICD-10 as Mental Retardation; Learning, Motor, and Communication Disorders; and Pervasive Developmental Disorders. Although these disorders seem to be heterogeneous, they share similarities on some risk and clinical factors. There is evidence of a neurodevelopmental genetic phenotype, the disorders have an early emerging and continuing course, and all have salient cognitive symptoms. Within-cluster co-morbidity also supports grouping these disorders together. Other childhood disorders currently listed in DSM-IV share similarities with the Externalizing and Emotional clusters. These include Conduct Disorder, Attention Deficit Hyperactivity Disorder and Separation Anxiety Disorder. The Tic, Eating/Feeding and Elimination disorders, and Selective Mutisms were allocated to the 'Not Yet Assigned' group. Neurodevelopmental disorders meet some of the salient criteria proposed by the American Psychiatric Association (APA) to suggest a classification cluster.

  19. Sleep, Plasticity and the Pathophysiology of Neurodevelopmental Disorders: The Potential Roles of Protein Synthesis and Other Cellular Processes

    Directory of Open Access Journals (Sweden)

    Dante Picchioni

    2014-03-01

    Full Text Available Sleep is important for neural plasticity, and plasticity underlies sleep-dependent memory consolidation. It is widely appreciated that protein synthesis plays an essential role in neural plasticity. Studies of sleep-dependent memory and sleep-dependent plasticity have begun to examine alterations in these functions in populations with neurological and psychiatric disorders. Such an approach acknowledges that disordered sleep may have functional consequences during wakefulness. Although neurodevelopmental disorders are not considered to be sleep disorders per se, recent data has revealed that sleep abnormalities are among the most prevalent and common symptoms and may contribute to the progression of these disorders. The main goal of this review is to highlight the role of disordered sleep in the pathology of neurodevelopmental disorders and to examine some potential mechanisms by which sleep-dependent plasticity may be altered. We will also briefly attempt to extend the same logic to the other end of the developmental spectrum and describe a potential role of disordered sleep in the pathology of neurodegenerative diseases. We conclude by discussing ongoing studies that might provide a more integrative approach to the study of sleep, plasticity, and neurodevelopmental disorders.

  20. Neurodevelopmental outcomes at 5 years in children exposed prenatally to maternal dental amalgam: the Seychelles Child Development Nutrition Study.

    Science.gov (United States)

    Watson, Gene E; van Wijngaarden, Edwin; Love, Tanzy M T; McSorley, Emeir M; Bonham, Maxine P; Mulhern, Maria S; Yeates, Alison J; Davidson, Philip W; Shamlaye, Conrad F; Strain, J J; Thurston, Sally W; Harrington, Donald; Zareba, Grazyna; Wallace, Julie M W; Myers, Gary J

    2013-01-01

    Limited human data are available to assess the association between prenatal mercury vapor (Hg⁰)) exposure from maternal dental amalgam restorations and neurodevelopment of children. We evaluated the association between maternal dental amalgam status during gestation and children's neurodevelopmental outcomes at 5 years in the Seychelles Child Development Nutrition Study (SCDNS). Maternal amalgam status was determined prospectively in a longitudinal cohort study examining the associations of prenatal exposure to nutrients and methylmercury (MeHg) with neurodevelopment. A total of 236 mother-child pairs initially enrolled in the SCDNS in 2001 were eligible to participate. Maternal amalgam status was measured as number of amalgam surfaces (the primary metric) and number of occlusal points. The neurodevelopmental assessment battery was comprised of age-appropriate tests of cognitive, language, and perceptual functions, and scholastic achievement. Linear regression analysis controlled for MeHg exposure, maternal fatty acid status, and other covariates relevant to child development. Maternal amalgam status evaluation yielded an average of 7.0 surfaces (range 0-28) and 11.0 occlusal points (range 0-40) during pregnancy. Neither the number of maternal amalgam surfaces nor occlusal points were associated with any outcome. Our findings do not provide evidence to support a relationship between prenatal exposure to Hg⁰ from maternal dental amalgam and neurodevelopmental outcomes in children at 5 years of age. © 2013.

  1. Globalization and new policy concerns

    DEFF Research Database (Denmark)

    Daugbjerg, Carsten; Swinbank, Alan

    2015-01-01

    The transfer of some decision-making authority from the domestic to the supranational arena as a result of the establishment of the World Trade Organization (WTO) in 1995 potentially changed domestic policy dynamics. The WTO agreements reflect the trade policy concerns addressed in the Uruguay...... Round in the late 1980s and early 1990s. This article applies and adapts historical institutionalism to explain how international organizations may constrain and facilitate certain domestic policy options. It demonstrates that, while the WTO legal framework has become more receptive of environmental...... sustainability concerns, the social sustainability concerns that were increasingly entering the debate over biofuel policies were not easily accommodated, and this was seen as a constraint on the content of the European Union's (EU) policy adopted in 2009. Only the environmental dimension of a broader concept...

  2. Serial brain MRI and ultrasound findings: relation to gestational age, bilirubin level, neonatal neurologic status and neurodevelopmental outcome in infants at risk of kernicterus.

    Science.gov (United States)

    Gkoltsiou, Konstantina; Tzoufi, Meropi; Counsell, Serena; Rutherford, Mary; Cowan, Frances

    2008-12-01

    To describe cranial ultrasound (cUS) and magnetic resonance imaging (MRI) findings in neonates at risk of kernicterus, in relation to gestational age (GA), total serum bilirubin (TSB), age at imaging and neurodevelopmental outcome. Neonates with peak TSB > 400 micromol/L and/or signs of bilirubin encephalopathy. Review of neonatal data, cUS, preterm, term and later MRI scans and neurodevelopmental outcome. 11 infants were studied, two kernicterus are not seen early remains unexplained.

  3. Characterizing the musical phenotype in individuals with Williams Syndrome.

    Science.gov (United States)

    Levitin, Daniel J; Cole, Kristen; Chiles, Michael; Lai, Zona; Lincoln, Alan; Bellugi, Ursula

    2004-12-01

    Williams Syndrome (WS), a neurodevelopmental genetic disorder, is characterized by peaks and valleys in mental function: substantial impairments in cognitive domains such as reasoning, arithmetic ability, and spatial cognition, alongside relatively preserved skills in social domains, face processing, language, and music. We report the results of a comprehensive survey on musical behaviors and background administered to the largest sample of individuals with WS to date (n = 118, mean age = 20.4), and compare the results to those obtained from a control group of typically developing normal individuals (n = 118, mean age = 20.9) and two groups of individuals with other neurodevelopmental genetic disorders, Autism (n = 30, mean age = 18.2) and Down Syndrome (n = 40, mean age = 17.2). Individuals with WS were found to be rated higher in musical accomplishment, engagement, and interest than either of the comparison groups, and equivalent on most measures to the control group. Compared to all other groups including the controls, the WS individuals displayed greater emotional responses to music, manifested interest in music at an earlier age, and spent more hours per week listening to music. In addition, the effects of music listening (whether positive or negative) tended to last longer in the WS group. A factor analysis extracted seven principal components that characterize the musical phenotype in our sample, and discriminant function analysis of those factors was able to successfully predict group membership for the majority of cases. We discuss the neurobiological implications of these findings.

  4. Individual Education.

    Science.gov (United States)

    Corsini, Raymond

    1981-01-01

    Paper presented at the 66th Convention of the International Association of Pupil Personnel Workers, October 20, 1980, Baltimore, Maryland, describes individual education based on the principles of Alfred Adler. Defines six advantages of individual education, emphasizing student responsibility, mutual respect, and allowing students to progress at…

  5. Individual Consultations

    OpenAIRE

    Ian Walkinshaw; Todd Milford; Keri Freeman

    2015-01-01

    Responding to calls for research into measurable English language outcomes from individual language support consultations at universities, this study investigated the effect of individual consultations (ICs) on the academic writing skills and lexico-grammatical competence of students who speak English as an additional language (EAL). Attendance by 31 EAL students at ICs was recorded, and samples of their academic writi...

  6. School Safety Concerns All Students.

    Science.gov (United States)

    Henderson, Megan

    1999-01-01

    Suggests that school safety is an issue that concerns all students. Discusses how the staff of the Rockwood South (Missouri) "RAMpage" covered the shootings at Columbine High School in a 14-page issue and in follow-up issues. Suggests that the student newspaper covered the controversial topic in an appropriate, tasteful manner. (RS)

  7. Vocational Education, a Current Concern.

    Science.gov (United States)

    Partridge, Susan

    Vocational education is needed for a strong economy, and the decline in vocational education enrollment is a serious concern. One recommendation is for more specific job training in the United States at the high school level, comparable to the apprenticeship programs in West Germany. Through the years, as certain needs have become apparent,…

  8. Privacy concerns in smart cities

    NARCIS (Netherlands)

    E.A. van Zoonen (Liesbet)

    2016-01-01

    textabstractIn this paper a framework is constructed to hypothesize if and how smart city technologies and urban big data produce privacy concerns among the people in these cities (as inhabitants, workers, visitors, and otherwise). The framework is built on the basis of two recurring dimensions in

  9. Midazolam dose correlates with abnormal hippocampal growth and neurodevelopmental outcome in preterm infants.

    Science.gov (United States)

    Duerden, Emma G; Guo, Ting; Dodbiba, Lorin; Chakravarty, M Mallar; Chau, Vann; Poskitt, Kenneth J; Synnes, Anne; Grunau, Ruth E; Miller, Steven P

    2016-04-01

    Very preterm-born neonates (24-32 weeks of gestation) are exposed to stressful and painful procedures during neonatal intensive care. Analgesic and sedation therapies are essential, and opiates and benzodiazepines are commonly used. These medications may negatively impact brain development. The hippocampus may be especially vulnerable to the effects of pain and analgesic and/or sedative therapies and contribute to adverse outcomes. The effect of invasive procedures and analgesic-sedative exposure on hippocampal growth was assessed, as was that of hippocampal growth on neurodevelopmental outcome. A total of 138 neonates (51% male, median gestational age = 27.7 weeks) underwent magnetic resonance imaging and diffusion tensor imaging (DTI) scans, early in life (postmenstrual age [PMA] = 32.3 weeks) and at term-equivalent age (PMA = 40.2 weeks). Volumes and DTI measures of axial diffusivity, radial diffusivity, and mean diffusivity (MD) were obtained from the hippocampus. Cognitive, language, and motor abilities were assessed using the Bayley Scales of Infant Development-III at 18.7 months median corrected age. Models testing the association of invasive procedures with hippocampal volumes and DTI measures accounted for birth gestational age, sex, PMA, dose of analgesics/sedatives (fentanyl, morphine, midazolam), mechanical ventilation, hypotension, and surgeries. Total midazolam dose predicted decreased hippocampal volumes (β = -1.8, p 0.5 each). Lower cognitive scores were associated with hippocampal growth (β = -0.31, p = 0.003), midazolam dose (β = -0.27, p = 0.03), and surgery (β = -8.32, p = 0.04). Midazolam exposure was associated with macro- and microstructural alterations in hippocampal development and poorer outcomes consistent with hippocampal dysmaturation. Use of midazolam in preterm neonates, particularly those not undergoing surgery, is cautioned. © 2016 American Neurological Association.

  10. A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations

    Science.gov (United States)

    Gentile, Jennifer K.; Tan, Wen-Hann; Horowitz, Lucia T.; Bacino, Carlos A.; Skinner, Steven A.; Barbieri-Welge, Rene; Bauer-Carlin, Astrid; Beaudet, Arthur L.; Bichell, Terry Jo; Lee, Hye-Seung; Sahoo, Trilochan; Waisbren, Susan E.; Bird, Lynne M.; Peters, Sarika U.

    2010-01-01

    Objective Angelman syndrome (AS) is a neurodevelopmental disorder caused by a deletion on chromosome 15, uniparental disomy (UPD), imprinting defect, or UBE3A mutation. It is characterized by intellectual disability with minimal speech and certain behavioral characteristics. We used standardized measures to characterize the developmental profile and to analyze genotype-phenotype correlations in AS. Method The study population consisted of 92 children, between 5 months and 5 years of age, enrolled in a Natural History Study. Each participant was evaluated using the Bayley Scales of Infant and Toddler Development (Third Edition) (BSID-III), the Vineland Adaptive Behavior Scales (Second Edition) (VABS-II), and the Aberrant Behavior Checklist. Results 74% had a deletion and 26% had UPD, an imprinting defect or a UBE3A mutation (“non-deletion”). The mean±standard deviation (SD) BSID-III cognitive scale developmental quotient (DQ) was 40.5±15.5. Participants with deletions were more developmentally delayed than the non-deletion participants in all BSID-III domains except in expressive language skills. The cognitive DQ was higher than the DQ in each of the other domains, and the receptive language DQ was higher than the expressive language DQ. In the VABS-II, deletion participants had weaker motor and language skills than the non-deletion participants. Conclusion Children with AS have a distinct developmental and behavioral profile; their cognitive skills are stronger than their language and motor skills, and their receptive language skills are stronger than expressive language skills. Developmental outcomes are associated with genotype, with deletion patients having worse outcomes than non-deletion patients. PMID:20729760

  11. Amelioration of fetal alcohol-related neurodevelopmental disorders in rats: exploring pharmacological and environmental treatments.

    Science.gov (United States)

    Hannigan, J H; Berman, R F

    2000-01-01

    Fetal alcohol syndrome (FAS) and alcohol-related neurodevelopmental disorders (ARNDs) in children are characterized by life-long compromises in learning, memory, and adaptive responses. Until the advent of effective prevention measures, it will remain necessary to seek ways to treat the life-long neurobehavioral consequences of prenatal alcohol exposure. To date, there are no clinical remedies to recommend for either specific or global fetal alcohol effects. This article reviews our basic research in animal models that assesses the potential of global environmental manipulations or specific psychopharmacological treatments to ameliorate the neurobehavioral effects of prenatal exposure to alcohol. Postweaning environmental enrichment can improve behavioral performance and ameliorate or even eliminate deficits in prenatal alcohol-exposed rats, although there is persistent impairment in neuronal plasticity, as indicated by the failure of hippocampal pyramidal cells to increase dendrite spine density. Behavioral and neural responses to CNS stimulants differ in rats exposed prenatally to alcohol, although it is not clear that these shifts in dose-response curves would predict benefit to children. Although the present results may sound a note of optimism for the development of effective treatment strategies for children with FAS or ARNDs, it is important to consider that application of these findings in rodents may not be straightforward. We also need to know the critical features of specific environments that influence brain development, and the limits of pharmacotherapy, as well as critical periods of exposure. Continued study of the beneficial, ameliorative effects of environmental enrichment, rehabilitative training, and of pharmacological therapies in animal models, will remain a valuable source of information for eventually devising treatments specific for children with FAS and ARNDs.

  12. Management of Sleep Disorders in Children With Neurodevelopmental Disorders: A Review.

    Science.gov (United States)

    Blackmer, Allison Beck; Feinstein, James A

    2016-01-01

    Neurodevelopmental disorders (NDDs) are defined as a group of disorders caused by changes in early brain development, resulting in behavioral and cognitive alterations in sensory and motor systems, speech, and language. NDDs affect approximately 1-2% of the general population. Up to 80% of children with NDDs are reported to have disrupted sleep; subsequent deleterious effects on daytime behaviors, cognition, growth, and overall development of the child are commonly reported. Examples of NDDs discussed in this review include autism spectrum disorder, cerebral palsy, Rett syndrome, Angelman syndrome, Williams syndrome, and Smith-Magenis syndrome. The etiology of sleep disorders in children with NDDs is largely heterogeneous and disease specific. The diagnosis and management of sleep disorders in this population are complex, and little high-quality data exist to guide a consistent approach to therapy. Managing sleep disorders in children with NDDs is critical both for the child and for the family but is often frustrating due to the refractory nature of the problem. Sleep hygiene must be implemented as first-line therapy; if sleep hygiene alone fails, it should be combined with pharmacologic management. The available evidence for the use of common pharmacologic interventions, such as iron supplementation and melatonin, as well as less common interventions, such as melatonin receptor agonists, clonidine, gabapentin, hypnotics, trazodone, and atypical antipsychotics is reviewed. Further, parents and caregivers should be provided with appropriate education on the nature of the sleep disorders and the expectation for modest pharmacologic benefit, at best. Additional data from well-designed trials in children with NDDs are desperately needed to gain a better understanding of sleep pharmacotherapy including efficacy and safety implications. Until then, clinicians must rely on the limited available data, as well as clinical expertise, when managing sleep disorders in the

  13. Mice lacking Brinp2 or Brinp3, or both, exhibit behaviours consistent with neurodevelopmental disorders

    Directory of Open Access Journals (Sweden)

    Susie Ruth Berkowicz

    2016-10-01

    Full Text Available Background: Brinps 1 – 3, and Astrotactins (Astn 1 and 2, are members of the Membrane Attack Complex / Perforin (MACPF superfamily that are predominantly expressed in the mammalian brain during development. Genetic variation at the human BRINP2/ASTN1 and BRINP1/ASTN2 loci has been implicated in neurodevelopmental disorders. We, and others, have previously shown that Brinp1-/- mice exhibit behaviour reminiscent of autism spectrum disorder (ASD and attention deficit hyperactivity disorder (ADHD.Method: We created Brinp2-/- mice and Brinp3-/- mice via the Cre-mediated LoxP system to investigate the effect of gene deletion on anatomy and behaviour. Additionally, Brinp2-/-Brinp3-/- double knock-out mice were generated by interbreeding Brinp2-/- and Brinp3-/- mice. Genomic validation was carried out for each knock-out line, followed by histological, weight and behavioural examination. Brinp1-/-Brinp2-/-Brinp3-/- triple knock-out mice were also generated by crossing Brinp2/3 double knock-out mice with previously generated Brinp1-/- mice, and examined by weight and histological analysis.Results: Brinp2-/- and Brinp3-/- mice differ in their behaviour: Brinp2-/- mice are hyperactive, whereas Brinp3-/- mice exhibit marked changes in anxiety-response on the elevated plus maze. Brinp3-/- mice also show evidence of altered sociability. Both Brinp2-/- and Brinp3-/- mice have normal short-term memory, olfactory responses, pre-pulse inhibition and motor learning. The double knock-out mice show behaviours of Brinp2-/- and Brinp3-/- mice, without evidence of new or exacerbated phenotypes. Conclusion: Brinp3 is important in moderation of anxiety, with potential relevance to anxiety disorders. Brinp2 dysfunction resulting in hyperactivity may be relevant to the association of ADHD with chromosome locus 1q25.2. Brinp2-/- and Brinp3-/- genes do not compensate in the mammalian brain and likely have distinct molecular or cell-type specific functions.

  14. Neurodevelopmental consequences in offspring of mothers with preeclampsia during pregnancy: underlying biological mechanism via imprinting genes.

    Science.gov (United States)

    Nomura, Yoko; John, Rosalind M; Janssen, Anna Bugge; Davey, Charles; Finik, Jackie; Buthmann, Jessica; Glover, Vivette; Lambertini, Luca

    2017-06-01

    Preeclampsia is known to be a leading cause of mortality and morbidity among mothers and their infants. Approximately 3-8% of all pregnancies in the US are complicated by preeclampsia and another 5-7% by hypertensive symptoms. However, less is known about its long-term influence on infant neurobehavioral development. The current review attempts to demonstrate new evidence for imprinting gene dysregulation caused by hypertension, which may explain the link between maternal preeclampsia and neurocognitive dysregulation in offspring. Pub Med and Web of Science databases were searched using the terms "preeclampsia," "gestational hypertension," "imprinting genes," "imprinting dysregulation," and "epigenetic modification," in order to review the evidence demonstrating associations between preeclampsia and suboptimal child neurodevelopment, and suggest dysregulation of placental genomic imprinting as a potential underlying mechanism. The high mortality and morbidity among mothers and fetuses due to preeclampsia is well known, but there is little research on the long-term biological consequences of preeclampsia and resulting hypoxia on the fetal/child neurodevelopment. In the past decade, accumulating evidence from studies that transcend disciplinary boundaries have begun to show that imprinted genes expressed in the placenta might hold clues for a link between preeclampsia and impaired cognitive neurodevelopment. A sudden onset of maternal hypertension detected by the placenta may result in misguided biological programming of the fetus via changes in the epigenome, resulting in suboptimal infant development. Furthering our understanding of the molecular and cellular mechanisms through which neurodevelopmental trajectories of the fetus/infant are affected by preeclampsia and hypertension will represent an important first step toward preventing adverse neurodevelopment in infants.

  15. Influence of intrauterine and extrauterine growth on neurodevelopmental outcome of monozygotic twins

    Directory of Open Access Journals (Sweden)

    R.K. Reolon

    2008-08-01

    Full Text Available There have been indications that intrauterine and early extrauterine growth can influence childhood mental and motor function. The objective of the present study was to evaluate the influence of intrauterine growth restriction and early extrauterine head growth on the neurodevelopmental outcome of monozygotic twins. Thirty-six monozygous twin pairs were evaluated at the corrected age of 12 to 42 months. Intrauterine growth restriction was quantified using the fetal growth ratio. The effects of birth weight ratio, head circumference at birth and current head circumference on mental and motor outcomes were estimated using mixed-effect linear regression models. Separate estimates of the between (interpair and within (intrapair effects of each measure on development were thus obtained. Neurodevelopment was assessed with the Bayley Scales of Infant Development, 2nd edition, by a psychologist blind to the exposure. A standardized neurological examination was performed by a neuropediatrician who was unaware of the exposures under investigation. After adjustment, birth weight ratio and head circumference at birth were not associated with motor or mental outcomes. Current head circumference was associated with mental but not with motor outcomes. Only the intrapair twin effect was significant. An increase of 1 cm in current head circumference of one twin compared with the other was associated with 3.2 points higher in Mental Developmental Index (95%CI = 1.06-5.32; P < 0.03. Thus, no effect of intrauterine growth was found on cognition and only postnatal head growth was associated with cognition. This effect was not shared by the co-twin.

  16. Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome.

    Science.gov (United States)

    Sweney, Matthew T; Silver, Kenneth; Gerard-Blanluet, Marion; Pedespan, Jean-Michel; Renault, Francis; Arzimanoglou, Alexis; Schlesinger-Massart, Mylynda; Lewelt, Aga J; Reyna, Sandra P; Swoboda, Kathryn J

    2009-03-01

    Alternating hemiplegia of childhood is a predominantly sporadic neurodevelopmental syndrome of uncertain etiology. In more than 3 decades since its description, little progress has been made in understanding its etiology or in identifying effective treatments. In 1998, in collaboration with the Alternating Hemiplegia of Childhood Foundation, an international registry was established to help document clinical outcomes and promote research efforts. We present phenotypic data on 103 patients who met existing diagnostic criteria for alternating hemiplegia of childhood. Although some of these subjects may have been included in previously published reviews, our focus was directed toward the earliest manifestations of symptoms and evolution of features over time. Data sources included written questionnaires, face-to-face and telephone interviews, clinical examination, and medical charts. Characteristics of disease onset, medical comorbidities, episode triggers, diagnostic workup, and treatment are presented. Paroxysmal eye movements were the most frequent early symptom, manifesting in the first 3 months of life in 83% of patients. Hemiplegic episodes appeared by 6 months of age in 56% of infants. Background slowing shown by electroencephalography during typical paroxysmal events, including hemiplegic, tonic, or dystonic episodes was frequent (21 of 42 cases). Distinct convulsive episodes with altered consciousness believed to be epileptic in nature were reported in 41% of patients. Ataxia (96%) and cognitive impairment (100%) were frequent nonepisodic symptoms. Empiric pharmacologic treatment approaches offered little benefit in most subjects and resulted in adverse effects in 20% of patients. Prolonged episodes were completely or temporarily aborted during sleep in all subjects. This descriptive analysis of a large cohort of children indicates that paroxysmal ocular movements are an early, highly suggestive symptom, followed by paroxysmal episodes of focal dystonia or

  17. Neurodevelopmental Outcomes and Neural Mechanisms Associated with Non-right Handedness in Children Born Very Preterm.

    Science.gov (United States)

    Pascoe, Leona; Scratch, Shannon E; Burnett, Alice C; Thompson, Deanne K; Lee, Katherine J; Doyle, Lex W; Cheong, Jeanie L Y; Inder, Terrie E; Anderson, Peter J

    2015-09-01

    Non-right handedness (NRH) is reportedly more common in very preterm (VPT; children compared with term-born peers, but it is unclear whether neonatal brain injury or altered brain morphology and microstructure underpins NRH in this population. Given that NRH has been inconsistently reported to be associated with cognitive and motor difficulties, this study aimed to examine associations between handedness and neurodevelopmental outcomes in VPT 7-year-olds. Furthermore, the relationship between neonatal brain injury and integrity of motor tracts (corpus callosum and corticospinal tract) with handedness at age 7 years in VPT children was explored. One hundred seventy-five VPT and 69 term-born children completed neuropsychological and motor assessments and a measure of handedness at 7 years' corrected age. At term-equivalent age, brain injury on MRI was assessed and diffusion tensor measures were obtained for the corpus callosum and posterior limb of the internal capsule. There was little evidence of stronger NRH in the VPT group compared with term controls (regression coefficient [b] -1.95, 95% confidence interval [-5.67, 1.77]). Poorer academic and working memory outcomes were associated with stronger NRH in the VPT group. While there was little evidence that neonatal unilateral brain injury was associated with stronger NRH, increased area and fractional anisotropy of the corpus callosum splenium were predictive of stronger NRH in the VPT group. VPT birth may alter the relationship between handedness and academic outcomes, and neonatal corpus callosum integrity predicts hand preference in VPT children at school age. (JINS, 2015, 21, 610-621).

  18. Reputational concerns with altruistic providers.

    Science.gov (United States)

    Olivella, Pau; Siciliani, Luigi

    2017-09-01

    We study a model of reputational concerns when doctors differ in their degree of altruism and they can signal their altruism by their (observable) quality. When reputational concerns are high, following the introduction or enhancement of public reporting, the less altruistic (bad) doctor mimics the more altruistic (good) doctor. Otherwise, either a separating or a semi-separating equilibrium arises: the bad doctor mimics the good doctor with probability less than one. Pay-for-performance incentive schemes are unlikely to induce crowding out, unless some dimensions of quality are unobservable. Under the pooling equilibrium a purchaser can implement the first-best quality by appropriately choosing a simple payment scheme with a fixed price per unit of quality provided. This is not the case under the separating equilibrium. Therefore, policies that enhance public reporting complement pay-for-performance schemes. Copyright © 2017 Elsevier B.V. All rights reserved.

  19. Terrorism Risk Concern in Europe

    OpenAIRE

    Drakos, Konstantinos; Müller, Cathérine

    2010-01-01

    We explore whether differences of terrorism risk perception across all European countries reflect their underlying differences in terrorism risk, which we decompose into a long term and innovation component. We employ longitudinal country-level data on terrorism risk concern and our modeling approach is motivated by the Bayesian framework. We conclude that the observed risk perception variation is significantly explained by the long term terrorism countries face, while the cyclical part of te...

  20. Developmental Neurotoxicants in E-Waste: An Emerging Health Concern

    Science.gov (United States)

    Chen, Aimin; Dietrich, Kim N.; Huo, Xia; Ho, Shuk-mei

    2011-01-01

    Objective Electronic waste (e-waste) has been an emerging environmental health issue in both developed and developing countries, but its current management practice may result in unintended developmental neurotoxicity in vulnerable populations. To provide updated information about the scope of the issue, presence of known and suspected neurotoxicants, toxicologic mechanisms, and current data gaps, we conducted this literature review. Data sources We reviewed original articles and review papers in PubMed and Web of Science regarding e-waste toxicants and their potential developmental neurotoxicity. We also searched published reports of intergovernmental and governmental agencies and nongovernmental organizations on e-waste production and management practice. Data extraction We focused on the potential exposure to e-waste toxicants in vulnerable populations—that is, pregnant women and developing children—and neurodevelopmental outcomes. In addition, we summarize experimental evidence of developmental neurotoxicity and mechanisms. Data synthesis In developing countries where most informal and primitive e-waste recycling occurs, environmental exposure to lead, cadmium, chromium, polybrominated diphenyl ethers, polychlorinated biphenyls, and polycyclic aromatic hydrocarbons is prevalent at high concentrations in pregnant women and young children. Developmental neurotoxicity is a serious concern in these regions, but human studies of adverse effects and potential mechanisms are scarce. The unprecedented mixture of exposure to heavy metals and persistent organic pollutants warrants further studies and necessitates effective pollution control measures. Conclusions Pregnant women and young children living close to informal e-waste recycling sites are at risk of possible perturbations of fetus and child neurodevelopment. PMID:21081302

  1. Individualizing Medicare.

    Science.gov (United States)

    Chollet, D J

    1999-05-01

    Despite the enactment of significant changes to the Medicare program in 1997, Medicare's Hospital Insurance trust fund is projected to be exhausted just as the baby boom enters retirement. To address Medicare's financial difficulties, a number of reform proposals have been offered, including several to individualize Medicare financing and benefits. These proposals would attempt to increase Medicare revenues and reduce Medicare expenditures by having individuals bear risk--investment market risk before retirement and insurance market risk after retirement. Many fundamental aspects of these proposals have yet to be worked out, including how to guarantee a baseline level of saving for health insurance after retirement, how retirees might finance unanticipated health insurance price increases after retirement, the potential implications for Medicaid of inadequate individual saving, and whether the administrative cost of making the system fair and adequate ultimately would eliminate any rate-of-return advantages from allowing workers to invest their Medicare contributions in corporate stocks and bonds.

  2. Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.

    Science.gov (United States)

    Hempel, Annmarie; Pagnamenta, Alistair T; Blyth, Moira; Mansour, Sahar; McConnell, Vivienne; Kou, Ikuyo; Ikegawa, Shiro; Tsurusaki, Yoshinori; Matsumoto, Naomichi; Lo-Castro, Adriana; Plessis, Ghislaine; Albrecht, Beate; Battaglia, Agatino; Taylor, Jenny C; Howard, Malcolm F; Keays, David; Sohal, Aman Singh; Kühl, Susanne J; Kini, Usha; McNeill, Alisdair

    2016-03-01

    SOX11 is a transcription factor proposed to play a role in brain development. The relevance of SOX11 to human developmental disorders was suggested by a recent report of SOX11 mutations in two patients with Coffin-Siris syndrome. Here we further investigate the role of SOX11 variants in neurodevelopmental disorders. We used array based comparative genomic hybridisation and trio exome sequencing to identify children with intellectual disability who have deletions or de novo point mutations disrupting SOX11. The pathogenicity of the SOX11 mutations was assessed using an in vitro gene expression reporter system. Loss-of-function experiments were performed in xenopus by knockdown of Sox11 expression. We identified seven individuals with chromosome 2p25 deletions involving SOX11. Trio exome sequencing identified three de novo SOX11 variants, two missense (p.K50N; p.P120H) and one nonsense (p.C29*). The biological consequences of the missense mutations were assessed using an in vitro gene expression system. These individuals had microcephaly, developmental delay and shared dysmorphic features compatible with mild Coffin-Siris syndrome. To further investigate the function of SOX11, we knocked down the orthologous gene in xenopus. Morphants had significant reduction in head size compared with controls. This suggests that SOX11 loss of function can be associated with microcephaly. We thus propose that SOX11 deletion or mutation can present with a Coffin-Siris phenotype. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  3. The Functional Evaluation of Eating Difficulties Scale: Study Protocol and Validation in Infants with Neurodevelopmental Impairments and Disabilities

    Directory of Open Access Journals (Sweden)

    Anna Cavallini

    2017-12-01

    Full Text Available IntroductionA reliable and accurate evaluation of oral-motor skills in newborns at risk for swallowing and feeding disorders is key to set the goals of effective early interventions. Although many tools are available to assess oral-motor skills in newborns, limited evidence exists for what pertains their reliability and their effectivity in predicting short- and long-term developmental outcomes in at-risk infants. The aim of the present study is to develop and provide a preliminary validation of a new clinically grounded tool [i.e., the Functional Evaluation of Eating Difficulties Scale (FEEDS] specifically designed to be used with at-risk newborns and infants. The paper describes the steps of tool development and information on the reliability of the tool are provided.Methods/analysisThe FEEDS has been developed according to clinical evidence and expertise by a multidisciplinary team of professionals dealing with feeding problems in at-risk infants diagnosed with neurodevelopmental impairments and disabilities. The steps of FEEDS development are reported, together with a detailed description of items, scoring procedure, and clinical cutoff. The FEEDS has been applied to a relatively large sample of 0- to 12-month-old infants (N = 136 with neurodevelopmental disability, enrolled consecutively between 2004 and 2016 at the Scientific Institute IRCCS Eugenio Medea (Bosisio Parini, Italy, which is the main rehabilitation hospital for children with neurodevelopmental disabilities in Italy. Internal consistency (Cronbach’s alpha and reliability (inter-rater agreement have been assessed.Ethics and disseminationAll the procedures are consistent with the World Medical Association Declaration of Helsinki (2013 and the FEEDS has been approved by the clinical committee of the Scientific Institute IRCCS Eugenio Medea. Further psychometric characteristics and evidence of the predictive validity of the FEEDS will be obtained on a larger sample and they

  4. The Functional Evaluation of Eating Difficulties Scale: Study Protocol and Validation in Infants with Neurodevelopmental Impairments and Disabilities.

    Science.gov (United States)

    Cavallini, Anna; Provenzi, Livio; Sacchi, Daniela; Longoni, Laura; Borgatti, Renato

    2017-01-01

    A reliable and accurate evaluation of oral-motor skills in newborns at risk for swallowing and feeding disorders is key to set the goals of effective early interventions. Although many tools are available to assess oral-motor skills in newborns, limited evidence exists for what pertains their reliability and their effectivity in predicting short- and long-term developmental outcomes in at-risk infants. The aim of the present study is to develop and provide a preliminary validation of a new clinically grounded tool [i.e., the Functional Evaluation of Eating Difficulties Scale (FEEDS)] specifically designed to be used with at-risk newborns and infants. The paper describes the steps of tool development and information on the reliability of the tool are provided. The FEEDS has been developed according to clinical evidence and expertise by a multidisciplinary team of professionals dealing with feeding problems in at-risk infants diagnosed with neurodevelopmental impairments and disabilities. The steps of FEEDS development are reported, together with a detailed description of items, scoring procedure, and clinical cutoff. The FEEDS has been applied to a relatively large sample of 0- to 12-month-old infants ( N  = 136) with neurodevelopmental disability, enrolled consecutively between 2004 and 2016 at the Scientific Institute IRCCS Eugenio Medea (Bosisio Parini, Italy), which is the main rehabilitation hospital for children with neurodevelopmental disabilities in Italy. Internal consistency (Cronbach's alpha) and reliability (inter-rater agreement) have been assessed. All the procedures are consistent with the World Medical Association Declaration of Helsinki (2013) and the FEEDS has been approved by the clinical committee of the Scientific Institute IRCCS Eugenio Medea. Further psychometric characteristics and evidence of the predictive validity of the FEEDS will be obtained on a larger sample and they will be reported in future publications from this group.

  5. Serum copeptin and neuron specific enolase are markers of neonatal distress and long-term neurodevelopmental outcome.

    Science.gov (United States)

    Kelen, Dorottya; Andorka, Csilla; Szabó, Miklós; Alafuzoff, Aleksander; Kaila, Kai; Summanen, Milla

    2017-01-01

    The objective of this study was to evaluate the early changes in serial serum levels of copeptin and neuron-specific enolase (NSE) in neonates diagnosed with birth asphyxia, and to determine whether these biomarkers measured in the first 168 hours after birth are predictive of long-term neurodevelopmental outcome. Copeptin and NSE levels were measured from serum samples collected 6, 12, 24, 48, 72, and 168 hours after birth from 75 term neonates diagnosed with hypoxic-ischemic encephalopathy (HIE) and treated with therapeutic hypothermia for 72 hours. In addition, serum copeptin levels after birth were measured from 10 HIE diagnosed neonates, who were randomized to the normothermic arm of the TOBY cohort. All neonates underwent neurodevelopmental assessment using the Bayley Scales of Infant and Toddler Development-II at two years of age. Copeptin levels were highest at 6 hours after birth and steadily decreased, whereas the highest NSE levels were measured at 24 hours after birth. The biomarker levels correlated with blood-gas parameters (base excess, pH and lactate) at 6 and 12 hours after birth. Copeptin and NSE levels in the early postnatal period were significantly higher in neonates with poor outcome compared to those with favorable outcome at two years of age. Furthermore, in the TOBY cohort, copeptin levels were significantly lower in hypothermic compared to normothermic neonates. To conclude, copeptin and NSE measured in the early postnatal period are potential prognostic biomarkers of long-term neurodevelopmental outcome in term neonates diagnosed with HIE and treated with therapeutic hypothermia.

  6. Serum copeptin and neuron specific enolase are markers of neonatal distress and long-term neurodevelopmental outcome.

    Directory of Open Access Journals (Sweden)

    Dorottya Kelen

    Full Text Available The objective of this study was to evaluate the early changes in serial serum levels of copeptin and neuron-specific enolase (NSE in neonates diagnosed with birth asphyxia, and to determine whether these biomarkers measured in the first 168 hours after birth are predictive of long-term neurodevelopmental outcome. Copeptin and NSE levels were measured from serum samples collected 6, 12, 24, 48, 72, and 168 hours after birth from 75 term neonates diagnosed with hypoxic-ischemic encephalopathy (HIE and treated with therapeutic hypothermia for 72 hours. In addition, serum copeptin levels after birth were measured from 10 HIE diagnosed neonates, who were randomized to the normothermic arm of the TOBY cohort. All neonates underwent neurodevelopmental assessment using the Bayley Scales of Infant and Toddler Development-II at two years of age. Copeptin levels were highest at 6 hours after birth and steadily decreased, whereas the highest NSE levels were measured at 24 hours after birth. The biomarker levels correlated with blood-gas parameters (base excess, pH and lactate at 6 and 12 hours after birth. Copeptin and NSE levels in the early postnatal period were significantly higher in neonates with poor outcome compared to those with favorable outcome at two years of age. Furthermore, in the TOBY cohort, copeptin levels were significantly lower in hypothermic compared to normothermic neonates. To conclude, copeptin and NSE measured in the early postnatal period are potential prognostic biomarkers of long-term neurodevelopmental outcome in term neonates diagnosed with HIE and treated with therapeutic hypothermia.

  7. Neurodevelopmental outcome of infants resuscitated with air or 100% oxygen: a systematic review and meta-analysis.

    Science.gov (United States)

    Saugstad, Ola Didrik; Vento, Maximo; Ramji, Siddarth; Howard, Diantha; Soll, Roger F

    2012-01-01

    The use of air for the initial resuscitation of newborn infants has been shown to reduce neonatal mortality. However, a precise estimate of the neurodevelopmental status upon follow-up of infants resuscitated in air is lacking. To perform a meta-analysis of all studies reporting resuscitation of newborn infants with air or 100% oxygen that included follow-up data. Bibliographic databases were searched. In addition, we estimated the effect of loss to follow-up on our analysis of abnormal neurodevelopmental outcome. We identified 10 studies in which newborn infants had been randomly or quasi-randomly assigned to resuscitation with air or 100% oxygen. Three of these 10 studies had available follow-up data. A total of 678 infants were enrolled at centers that performed follow-up of these infants. Of these, 113 died, leaving 565 infants potentially eligible for follow-up. A total of 414 children were evaluated (73% of eligible children; 195 resuscitated with air and 219 with 100% oxygen). In the air group, 12.8% of infants had an abnormal neurodevelopmental outcome, compared with 10.5% in the 100% oxygen group [typical relative risk (RR) 1.24, 95% confidence interval 0.73-2.10]. This is consistent with an RR of abnormal development as low as 0.41 or as high as 2.28. Long-term follow-up did not detect any significant differences in these two groups regarding abnormal development. However, the results are imprecise and could be consistent with significant harm or benefit. Copyright © 2012 S. Karger AG, Basel.

  8. Preterm brain injury on term-equivalent age MRI in relation to perinatal factors and neurodevelopmental outcome at two years.

    Directory of Open Access Journals (Sweden)

    Margaretha J Brouwer

    Full Text Available First, to apply a recently extended scoring system for preterm brain injury at term-equivalent age (TEA-MRI in a regional extremely preterm cohort; second, to identify independent perinatal factors associated with this score; and third, to assess the prognostic value of this TEA-MRI score with respect to early neurodevelopmental outcome.239 extremely preterm infants (median gestational age [range] in weeks: 26.6 [24.3-27.9], admitted to the Wilhelmina Children's Hospital between 2006 and 2012 were included. Brain abnormalities in white matter, cortical and deep grey matter and cerebellum and brain growth were scored on T1- and T2-weighted TEA-MRI using the Kidokoro scoring system. Neurodevelopmental outcome was assessed at two years corrected age using the Bayley Scales of Infant and Toddler Development, third edition. The association between TEA-MRI and perinatal factors as well as neurodevelopmental outcome was evaluated using multivariable regression analysis.The distribution of brain abnormalities and brain metrics in the Utrecht cohort differed from the original St. Louis cohort (p 7 days (β [95% confidence interval, CI]: 1.3 [.5; 2.0] and parenteral nutrition >21 days (2.2 [1.2; 3.2] were independently associated with higher global brain abnormality scores (p < .001. Global brain abnormality scores were inversely associated with cognitive (β in composite scores [95% CI]: -.7 [-1.2; -.2], p = .004, fine motor (β in scaled scores [95% CI]: -.1 [-.3; -.0], p = .007 and gross motor outcome (β in scaled scores [95% CI]: -.2 [-.3; -.1], p < .001 at two years corrected age, although the explained variances were low (R2 ≤.219.Patterns of brain injury differed between cohorts. Prolonged mechanical ventilation and parenteral nutrition were identified as independent perinatal risk factors. The prognostic value of the TEA-MRI score was rather limited in this well-performing cohort.

  9. Neurodevelopmental problems at 18 months among children exposed to paracetamol in utero: a propensity score matched cohort study.

    Science.gov (United States)

    Vlenterie, Richelle; Wood, Mollie E; Brandlistuen, Ragnhild Eek; Roeleveld, Nel; van Gelder, Marleen Mhj; Nordeng, Hedvig

    2016-12-01

    Previous studies showed that children exposed to paracetamol during fetal life might have an increased risk of neurodevelopmental problems. Since paracetamol is one of the most commonly used medications during pregnancy, even small increases in the risk of neurodevelopmental problems may have considerable implications for public health. Using data from the Norwegian Mother and Child Cohort Study, we applied propensity score (PS) matching to examine associations between prenatal paracetamol exposure and neurodevelopmental problems among children at 18 months of age. Paracetamol use was classified into short-term (< 28 days) and long-term (≥ 28 days) of exposure. Of the 51 200 pregnancies included in our study, 40.5% of mothers ( n  = 20 749) used paracetamol at least once during pregnancy. In the PS-matched analyses, long-term paracetamol exposure during pregnancy was associated with communication problems [odds ratio (OR): 1.38, 95% confidence interval (CI) 0.98-1.95) and delayed motor milestone attainment (OR: 1.35, 95% CI 1.07-1.70). We did not observe increased risks after short-term exposure. Sensitivity analyses for several indications showed similar effects as the PS-matched analyses, suggesting no confounding by indication. Long-term exposure to paracetamol in utero was associated with modestly increased risks of motor milestone delay and impaired communication skills among children at 18 months. Caution is warranted when considering long-term use of paracetamol during pregnancy; however, women with severe pain conditions should not be deprived of appropriate pharmacotherapy.

  10. T-cell Responses in Individuals Infected with Zika Virus and in Those Vaccinated Against Dengue Virus

    OpenAIRE

    Dominic Paquin-Proulx; Leal, Fabio E; Terrassani Silveira, Cassia G.; Alvino Maestri; Claudia Brockmeyer; Kitchen, Shannon M.; Cabido, Vinicius D.; Esper G Kallas; Nixon, Douglas F.

    2017-01-01

    Background: The outbreak of Zika virus (ZIKV) infection in Brazil has raised concerns that infection during pregnancy could cause microcephaly and other severe neurodevelopmental malformations in the fetus. The mechanisms by which ZIKV causes fetal abnormalities are largely unknown. The importance of pre-infection with dengue virus (DENV), or other flaviviruses endemic to Brazil, remains to be investigated. It has been reported that antibodies directed against DENV can increase ZIKV infectivi...

  11. Collective individualism

    DEFF Research Database (Denmark)

    Baarts, Charlotte

    2009-01-01

    Safety knowledge appears to be ‘a doing’. In construction work safety is practised in the complex interrelationship between the individual, pair and gang. Thus the aim is to explore the nature and scope of individualist and collectivist preferences pertaining to the practice of safety at a constr...

  12. Consumer concerns: motivating to action.

    Science.gov (United States)

    Bruhn, C. M.

    1997-01-01

    Microbiologic safety is consumers' most frequently volunteered food safety concern. An increase in the level of concern in recent years suggests that consumers are more receptive to educational information. However, changing lifestyles have lessened the awareness of foodborne illness, especially among younger consumers. Failure to fully recognize the symptoms or sources of foodborne disease prevents consumers from taking corrective action. Consumer education messages should include the ubiquity of microorganisms, a comprehensive description of foodborne illnesses, and prevention strategies. Product labels should contain food-handling information and warnings for special populations, and foods processed by newer safety-enhancing technologies should be more widely available. Knowledge of the consequences of unsafe practices can enhance motivation and adherence to safety guidelines. When consumers mishandle food during preparation, the health community, food industry, regulators, and the media are ultimately responsible. Whether inappropriate temperature control, poor hygiene, or another factor, the error occurs because consumers have not been informed about how to handle food and protect themselves. The food safety message has not been delivered effectively. PMID:9366604

  13. Appearance concerns in ophthalmic patients

    Science.gov (United States)

    James, H; Jenkinson, E; Harrad, R; Ezra, D G; Newman, S

    2011-01-01

    Aims This study aimed to determine the psychosocial and appearance-related concerns of a sample of ophthalmic patients by measuring a range of psychological, social, and demographic factors. Methods Standardized psychological measures including anxiety, depression, appearance-related distress, self-discrepancy, appearance salience and valence were administered to 98 participants attending ophthalmic outpatient clinics in either London, Bristol, Sheffield or Bradford. Differences between groups were explored using t-tests and ANOVA, relationships between all variables were investigated using Pearson's correlation coefficient. Results Although mean scores for psychological adjustment were within the normal range, some participants were experiencing considerable levels of generalized anxiety. Being older, male, and married or living with a partner was related to significantly better adjustment. Better adjustment was also related to a less visible area of concern, greater disguisability of the affected area, a more positive evaluation of their own appearance, less engagement in comparing themselves with others, greater feelings of being accepted by others, appearance being less important to their self-concept, and a smaller discrepancy between the persons ideal and actual appearance. Conclusions A majority of ophthalmic patients adjust positively to the demands placed on them. By identifying the variables that are associated with successful adaptation, the specific psychological interventions and appropriate systems of support can be put in place to help those who are adversely affected. PMID:21597486

  14. Molecular and neurodevelopmental benefits to children of closure of a coal burning power plant in China.

    Directory of Open Access Journals (Sweden)

    Deliang Tang

    Full Text Available Polycyclic aromatic hydrocarbons (PAH are major toxic air pollutants released during incomplete combustion of coal. PAH emissions are especially problematic in China because of their reliance on coal-powered energy. The prenatal period is a window of susceptibility to neurotoxicants. To determine the health benefits of reducing air pollution related to coal-burning, we compared molecular biomarkers of exposure and preclinical effects in umbilical cord blood to neurodevelopmental outcomes from two successive birth cohorts enrolled before and after a highly polluting, coal-fired power plant in Tongliang County, China had ceased operation. Women and their newborns in the two successive cohorts were enrolled at the time of delivery. We measured PAH-DNA adducts, a biomarker of PAH-exposure and DNA damage, and brain-derived neurotrophic factor (BDNF, a protein involved in neuronal growth, in umbilical cord blood. At age two, children were tested using the Gesell Developmental Schedules (GDS. The two cohorts were compared with respect to levels of both biomarkers in cord blood as well as developmental quotient (DQ scores across 5 domains. Lower levels of PAH-DNA adducts, higher concentrations of the mature BDNF protein (mBDNF and higher DQ scores were seen in the 2005 cohort enrolled after closure of the power plant. In the two cohorts combined, PAH-DNA adducts were inversely associated with mBDNF as well as scores for motor (p = 0.05, adaptive (p = 0.022, and average (p = 0.014 DQ. BDNF levels were positively associated with motor (p = 0.018, social (p = 0.001, and average (p = 0.017 DQ scores. The findings indicate that the closure of a coal-burning plant resulted in the reduction of PAH-DNA adducts in newborns and increased mBDNF levels that in turn, were positively associated with neurocognitive development. They provide further evidence of the direct benefits to children's health as a result of the coal plant shut down

  15. Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation

    Science.gov (United States)

    Weaving, Linda S.; Christodoulou, John; Williamson, Sarah L.; Friend, Kathie L.; McKenzie, Olivia L. D.; Archer, Hayley; Evans, Julie; Clarke, Angus; Pelka, Gregory J.; Tam, Patrick P. L.; Watson, Catherine; Lahooti, Hooshang; Ellaway, Carolyn J.; Bennetts, Bruce; Leonard, Helen; Gécz, Jozef

    2004-01-01

    Rett syndrome (RTT) is a severe neurodevelopmental disorder caused, in most classic cases, by mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2). A large degree of phenotypic variation has been observed in patients with RTT, both those with and without MECP2 mutations. We describe a family consisting of a proband with a phenotype that showed considerable overlap with that of RTT, her identical twin sister with autistic disorder and mild-to-moderate intellectual disability, and a brother with profound intellectual disability and seizures. No pathogenic MECP2 mutations were found in this family, and the Xq28 region that contains the MECP2 gene was not shared by the affected siblings. Three other candidate regions were identified by microsatellite mapping, including 10.3 Mb at Xp22.31-pter between Xpter and DXS1135, 19.7 Mb at Xp22.12-p22.11 between DXS1135 and DXS1214, and 16.4 Mb at Xq21.33 between DXS1196 and DXS1191. The ARX and CDKL5 genes, both of which are located within the Xp22 region, were sequenced in the affected family members, and a deletion of nucleotide 183 of the coding sequence (c.183delT) was identified in CDKL5 in the affected family members. In a screen of 44 RTT cases, a single splice-site mutation, IVS13-1G→A, was identified in a girl with a severe phenotype overlapping RTT. In the mouse brain, Cdkl5 expression overlaps—but is not identical to—that of Mecp2, and its expression is unaffected by the loss of Mecp2. These findings confirm CDKL5 as another locus associated with epilepsy and X-linked mental retardation. These results also suggest that mutations in CDKL5 can lead to a clinical phenotype that overlaps RTT. However, it remains to be determined whether CDKL5 mutations are more prevalent in specific clinical subgroups of RTT or in other clinical presentations. PMID:15492925

  16. The Philadelphia Neurodevelopmental Cohort: A publicly available resource for the study of normal and abnormal brain development in youth.

    Science.gov (United States)

    Satterthwaite, Theodore D; Connolly, John J; Ruparel, Kosha; Calkins, Monica E; Jackson, Chad; Elliott, Mark A; Roalf, David R; Ryan Hopsona, Karthik Prabhakaran; Behr, Meckenzie; Qiu, Haijun; Mentch, Frank D; Chiavacci, Rosetta; Sleiman, Patrick M A; Gur, Ruben C; Hakonarson, Hakon; Gur, Raquel E

    2016-01-01

    The Philadelphia Neurodevelopmental Cohort (PNC) is a large-scale study of child development that combines neuroimaging, diverse clinical and cognitive phenotypes, and genomics. Data from this rich resource is now publicly available through the Database of Genotypes and Phenotypes (dbGaP). Here we focus on the data from the PNC that is available through dbGaP and describe how users can access this data, which is evolving to be a significant resource for the broader neuroscience community for studies of normal and abnormal neurodevelopment. Copyright © 2015 Elsevier Inc. All rights reserved.

  17. Essays concerning Hume's natural philosophy

    OpenAIRE

    Slavov, Matias

    2016-01-01

    The subject of this essay-based dissertation is Hume’s natural philosophy. The dissertation consists of four separate essays and an introduction. These essays do not only treat Hume’s views on the topic of natural philosophy, but his views are placed into a broader context of history of philosophy and science, physics in particular. The introductory section outlines the historical context, shows how the individual essays are connected, expounds what kind of research methodol...

  18. Obesity: A National Security Concern

    Science.gov (United States)

    2011-02-28

    normally be denied the privilege of serving in the Japanese army would, as a result of this new classification system, be able to perform alternative ...for-height standards were originally implemented to identify underweight individuals who might be suffering from malnourishment, tuberculosis or...identified in a 2003 report by the Institute of Medicine .28 10 According to a December 2010 Army Times article, the practice has expanded to include

  19. Legal concerns in psychosomatic medicine.

    Science.gov (United States)

    Brendel, Rebecca W; Schouten, Ronald

    2007-12-01

    In the practice of psychosomatic medicine, the psychiatric consultant is likely to be confronted with questions at the interface of psychiatry and law. These issues generally emerge around questions of confidentiality and exceptions to confidentiality, assessments of a patient's ability to consent to and refuse treatment, and concerns about malpractice liability. Overall, psychiatrists should approach the care of patients clinically, while understanding the applicable laws and regulations of the jurisdictions in which they practice. In addition, clinicians should be aware of the legal and risk management resources available to them should a complex situation arise. Finally, the psychiatric consultant should make use of consultation when complex issues emerge at the interface of psychiatry and law.

  20. Concerns About STEM Education Restructure

    Science.gov (United States)

    Showstack, Randy

    2013-05-01

    Several education experts told Eos that they generally favored some improvements in U.S. federal science, technology, engineering, and mathematics (STEM) education, but they also expressed concern about the Obama administration's proposed STEM reorganization plan as it affects the National Oceanic and Atmospheric Administration (NOAA). John Farrington, chair of the U.S. National Research Council (NRC) panel that issued a review of the NOAA education program in 2010, told Eos that he is confident that a considerable amount of thought went into this proposal to consolidate the K-12 STEM efforts, that consolidation could make for greater efficiencies, and that a positive aspect of having the Department of Education (ED) as a lead is that STEM education should not be considered as separate from the education of the student as a whole.

  1. Undergraduate Course on Global Concerns

    Science.gov (United States)

    Richard, G. A.; Weidner, D. J.

    2008-12-01

    GEO 311: Geoscience and Global Concerns is an undergraduate course taught at Stony Brook University during each fall semester. The class meets twice per week, with one session consisting of a lecture and the other, an interactive activity in a computer laboratory that engages the students in exploring real world problems. A specific concern or issue serves as a focus during each session. The students are asked to develop answers to a series of questions that engage them in identifying causes of the problem, connections with the Earth system, relationships to other problems, and possible solutions on both a global and local scale. The questions are designed to facilitate an integrated view of the Earth system. Examples of topics that the students explore during the laboratory sessions are: 1) fossil fuel reserves and consumption rates and the effect of their use on climate, 2) alternative sources of energy and associated technologies, such as solar photovoltaics, nuclear energy, tidal power, geothermal energy, and wind power, 3) effects of tsunamis and earthquakes on human populations and infrastructure, 4) climate change, and 5) hurricanes and storms. The selection and scheduling of topics often takes advantage of the occurrence of media attention or events that can serve as case studies. Tools used during the computer sessions include Google Earth, ArcGIS, spreadsheets, and web sites that offer data and maps. The students use Google Earth or ArcGIS to map events such as earthquakes, storms, tsunamis, and changes in the extent of polar ice. Spreadsheets are employed to discern trends in fossil fuel supply and consumption, and to experiment with models that make predictions for the future. We present examples of several of these activities and discuss how they facilitate an understanding of interrelationships within the Earth system.

  2. Neurodevelopmental outcome of extremely low-birth-weight infants randomly assigned to restrictive or liberal hemoglobin thresholds for blood transfusion.

    Science.gov (United States)

    Whyte, Robin K

    2012-08-01

    Surviving extremely low-birth-weight infants are at risk of severe neurodevelopmental disability. Transfusion with packed red cells is almost universal in the care of these infants, but the hemoglobin threshold at which these transfusions should be given is unclear. Different clinical trials of restrictive (low hemoglobin) versus liberal (high hemoglobin) thresholds have addressed either neurodevelopmental outcomes at 18-21 months of corrected gestational age or psychological tests and brain imaging at 8-15 years of age. Early follow-up shows differences in cognitive outcome favoring the liberal strategy, but as a post hoc secondary outcome. The childhood studies favor the restrictive strategy, but include major methodological problems of secondary recruitment. No firm conclusion can be reached, other than to report that serious adverse effects may be attributable to one or other of these strategies, that prudent practice is to remain within trial protocols, and that further redesigned clinical trials are required. Copyright © 2012 Elsevier Inc. All rights reserved.

  3. Effectiveness of Neuro-Developmental Treatment (bobath concept) on postural control and balance in Cerebral Palsied Children.

    Science.gov (United States)

    Tekin, Fatih; Kavlak, Erdogan; Cavlak, Ugur; Altug, Filiz

    2017-11-17

    The aim of this study was to show the effects of an 8-week Neurodevelopmental Treatment based posture and balance training on postural control and balance in diparetic and hemiparetic Cerebral Palsied children (CPC). Fifteen CPC (aged 5-15 yrs) were recruited from Denizli Yağmur Çocukları Rehabilitation Centre. Gross Motor Function Classification System, Gross Motor Function Measure, 1-Min Walking Test, Modified Timed Up and Go Test, Paediatric Balance Scale, Functional Independence Measure for Children and Seated Postural Control Measure were used for assessment before and after treatment. An 8-week NDT based posture and balance training was applied to the CPC in one session (60-min) 2 days in a week. After the treatment program, all participants showed statistically significant improvements in terms of gross motor function (p< 0.05). They also showed statistically significant improvements about balance abilities and independence in terms of daily living activities (p< 0.05). Seated Postural Control Measure scores increased after the treatment program (p< 0.05). The results of this study indicate that an 8-week Neurodevelopmental Treatment based posture and balance training is an effective approach in order to improve functional motor level and functional independency by improving postural control and balance in diparetic and hemiparetic CPC.

  4. MECHANISMS IN ENDOCRINOLOGY: Neurodevelopmental disorders in children born to mothers with thyroid dysfunction: evidence of fetal programming?

    Science.gov (United States)

    Andersen, Stine Linding; Carlé, Allan; Karmisholt, Jesper; Pedersen, Inge Bülow; Andersen, Stig

    2017-07-01

    Fetal programming is a long-standing, but still evolving, concept that links exposures during pregnancy to the later development of disease in the offspring. A fetal programming effect has been considered within different endocrine axes and in relation to different maternal endocrine diseases. In this critical review, we describe and discuss the hypothesis of fetal programming by maternal thyroid dysfunction in the context of fetal brain development and neurodevelopmental disorders in the offspring. Thyroid hormones are important regulators of early brain development, and evidence from experimental and observational human studies have demonstrated structural and functional abnormalities in the brain caused by the lack or excess of thyroid hormone during fetal brain development. The hypothesis that such abnormalities introduced during early fetal brain development increase susceptibility for the later onset of neurodevelopmental disorders in the offspring is biologically plausible. However, epidemiological studies on the association between maternal thyroid dysfunction and long-term child outcomes are observational in design, and are challenged by important methodological aspects. © 2017 European Society of Endocrinology.

  5. Risk and benefit assessment of potential neurodevelopmental effect resulting from consumption of marine fish from a coastal archipelago in China.

    Science.gov (United States)

    Gao, Yi-Xiong; Zhang, Hongxia; Yu, Xinwei; He, Jia-lu; Shang, Xiaohong; Li, Xiaowei; Zhao, Yunfeng; Wu, Yongning

    2014-06-04

    The aim of this study was to assess net neurodevelopmental effect via maternal consumption of marine fish. A total of thirty-one species were collected from Zhoushan, China. The net IQ point gain was assessed by FAO/WHO deterministic approach and probabilistic computation (if necessary). Results of the deterministic assessment of two samples belonging to Scoliodon sorrakowah showed negative IQ point gain in both common and extreme consumption scenarios (175 and 450 g/week, respectively); the net IQ gain caused by both consumption scenarios of other species were positive. Both consumption scenarios of Scoliodon sorrakowah showed beneficial neurodevelopmental effect according to probabilistic computation (95% CI for mean of net IQ gain: 0.0536-0.0554 and 0.1377-0.1425, respectively). Except for Scoliodon sorrakowah, this study indicates that both consumption scenarios of other studied species would be recommended according to the FAO/WHO approach. There would be no recommendation of consumption scenarios of Scoliodon sorrakowah for the reason for carefulness.

  6. Evaluation of pharmaceutical concerns in Germany: frequency and potential reasons.

    Science.gov (United States)

    Gradl, Gabriele; Krieg, Eva-Maria; Schulz, Martin

    2016-01-01

    Generic substitution can have unintended consequences. In Germany, brand name to generic or generic to generic switching is mainly driven by rebate contracts. Frequent switching may raise concerns about bio- and therapeutic equivalence. Expected patient confusion may result in compromised medication adherence or new onset of other drug-related problems. Since 2008, pharmacists are allowed to deviate from rebate contracts by denying substitution due to pharmaceutical concerns on an individual basis. To explore the frequency of documented pharmaceutical concerns in Germany between July 2011 and December 2013 and to identify the medicines most frequently related to pharmaceutical concerns in 2013. We analyzed documented pharmaceutical concerns in all prescribed drugs at the expense of any statutory health insurance company requiring pharmacies' generic substitution according to rebate contracts. Since July 2011, the frequency of documented pharmaceutical concerns in relation to prescribed drug products with rebate contracts requiring substitution increased consistently and doubled between July 2011 and July 2013. Overall in 2013, the trend of the two previous years continued and reached approximately 1.5%. The most affected drugs/drug classes were thyroid hormones (in particular combinations with iodide; 15.9%) followed by ondansetron (12.5%), and levothyroxine (11.3%). For all drugs/drug classes under investigation, product-, patient- or disease-related aspects could be identified which are potential reasons to deny substitution and to document pharmaceutical concerns. Although there is no electronic recording of the specific reasons for pharmaceutical concerns in claims data, our analyses support the assumption that pharmacists make use of this instrument based on individual clinical decisions and as required by contract. Pharmaceutical concerns are, therefore, an important instrument for pharmacies to refuse generic substitution. They are considered to prevent

  7. Evaluation of pharmaceutical concerns in Germany: frequency and potential reasons

    Directory of Open Access Journals (Sweden)

    Gradl G

    2016-09-01

    Full Text Available Background: Generic substitution can have unintended consequences. In Germany, brand name to generic or generic to generic switching is mainly driven by rebate contracts. Frequent switching may raise concerns about bio- and therapeutic equivalence. Expected patient confusion may result in compromised medication adherence or new onset of other drug-related problems. Since 2008, pharmacists are allowed to deviate from rebate contracts by denying substitution due to pharmaceutical concerns on an individual basis. Objectives: To explore the frequency of documented pharmaceutical concerns in Germany between July 2011 and December 2013 and to identify the medicines most frequently related to pharmaceutical concerns in 2013. Methods: We analyzed documented pharmaceutical concerns in all prescribed drugs at the expense of any statutory health insurance company requiring pharmacies’ generic substitution according to rebate contracts. Results: Since July 2011, the frequency of documented pharmaceutical concerns in relation to prescribed drug products with rebate contracts requiring substitution increased consistently and doubled between July 2011 and July 2013. Overall in 2013, the trend of the two previous years continued and reached approximately 1.5%. The most affected drugs/drug classes were thyroid hormones (in particular combinations with iodide; 15.9% followed by ondansetron (12.5%, and levothyroxine (11.3%. For all drugs/drug classes under investigation, product-, patient- or disease-related aspects could be identified which are potential reasons to deny substitution and to document pharmaceutical concerns. Conclusions: Although there is no electronic recording of the specific reasons for pharmaceutical concerns in claims data, our analyses support the assumption that pharmacists make use of this instrument based on individual clinical decisions and as required by contract. Pharmaceutical concerns are, therefore, an important instrument for

  8. Ombuds’ corner: Confidentiality concerning boards

    CERN Multimedia

    Vincent Vuillemin

    2011-01-01

    In this series, the Bulletin aims to explain the role of the Ombuds at CERN by presenting practical examples of misunderstandings that could have been resolved by the Ombuds if he had been contacted earlier. Please note that, in all the situations we present, the names are fictitious and used only to improve clarity.   Phil* was a candidate for a position in a different group from the one he had been working for. After his board had taken place, Phil asked for an appointment with the Ombuds. In his opinion, the interview went reasonably well. However Phil had some concerns as he had heard that there was no point in him applying as another candidate will get the position. He had decided to apply anyway, encouraged by other people, with the hope that he would get a good rating that could help him get a position in the future, if he didn't get present one. During the interview he was asked some questions that could only have been answered by candidates with  experience related ...

  9. Neurodevelopmental toxicity risks due to occupational exposure to industrial chemicals during pregnancy

    DEFF Research Database (Denmark)

    Julvez, Jordi; Grandjean, Philippe

    2009-01-01

    Exposure to neurotoxic chemicals is of particular concern when it occurs during early development. The immature brain is highly vulnerable prenatally and is therefore at risk due to occupational exposures incurred by pregnant women. A systematic search of the literature has been performed...

  10. Generation of improved human cerebral organoids from single copy DYRK1A knockout induced pluripotent stem cells in trisomy 21: hypothetical solutions for neurodevelopmental models and therapeutic alternatives in down syndrome.

    Science.gov (United States)

    Çağlayan, E Sacide

    2016-12-01

    Dual-specificity thyrosine phosphorylation-regulated kinase 1A (DYRK1A) is a strong therapeutic target to ameliorate cognitive functions of Down Syndrome (DS). Genetic normalization of Dyrk1a is sufficient to normalize early cortical developmental phenotypes in DS mouse models. Gyrencephalic human neocortical development is more complex than that in lissencephalic mice; hence, cerebral organoids (COs) can be used to model early neurodevelopmental defects of DS. Single copy DYRK1A knockout COs (scDYRK1AKO-COs) can be generated from manipulated DS derived (DS-) induced pluripotent stem cells (iPSCs) and genetic normalization of DYRK1A is expected to result in corrected neurodevelopmental phenotypes that can be reminiscent of normal COs. DYRK1A knock-in (DYRK1AKI) COs can be derived after genetic manipulations of normal iPSCs and would be valuable to evaluate impaired neocortical development as can be seen in DS-COs. DYRK1A mutations cause severe human primary microcephaly; hence, dose optimization studies of DYRK1A inhibitors will be critical for prenatal therapeutic applications in DS. Several doses of DYRK1A inhibitors can be tested in the neurodevelopment process of DS-COs and DS-scDYRK1AKO-COs would be used as optimum models for evaluating phenotypic ameliorations. Overdose drug exposure in DS-COs can be explained by similar defects present in DS-baDYRK1AKO-COs and DYRK1AKO-COs. There are several limitations in the current CO technology, which can be reduced by the generation of vascularized brain-like organoids giving opportunities to mimic late-stage corticogenesis and complete hippocampal development. In the future, improved DS-DYRK1AKO-COs can be efficient in studies that aim to generate efficiently transplantable and implantable neurons for tissue regeneration alternatives in DS individuals. © 2016 International Federation for Cell Biology.

  11. Organic food and health concerns

    DEFF Research Database (Denmark)

    Denver, Sigrid; Christensen, Tove

    2015-01-01

    A number of studies based on stated behaviour suggest that consumption of organic food is part of a life style that involves healthy eating habits that go beyond shifting to organic varieties of the individual food products. However, so far no studies based on observed behaviour have addressed...... between consumption of organic food and perceptions that organic production is more animal or environmentally friendly....... the relationship between organic purchases and diet composition. The aim of the present paper is to fill this gab using purchase data for a large sample of Danish households. Using a Tobit regression analysis, the diets of households with higher organic consumption were found to include more vegetables and fruits...

  12. Individual Performance

    DEFF Research Database (Denmark)

    Andersen, Lotte Bøgh; Heinesen, Eskil; Pedersen, Lene Holm

    2016-01-01

    of the assessment. Our investigated explanatory variables are intrinsic motivation, public service motivation, and job satisfaction. Combining survey and administrative data for 747 lower secondary school teachers (teaching 5,679 students in 85 schools), we analyze 4 different measures of the same performance......Performance is perhaps the most central concept in public administration research, and this article discusses theoretically and investigates empirically how we can obtain more consistent performance measures. Theoretically, we combine existing arguments in public administration with institutional...... theory and the sociology of professions. Empirically, we ask whether different measures of individual performance produce different results. The investigated performance measures vary with regard to risk of common data source bias, standardization of assessment criteria, and external verification...

  13. Concerns and Needs of University Students with Psychiatric Disabilities.

    Science.gov (United States)

    Weiner, Enid; Weiner, Judith

    1996-01-01

    A study using individual interviews with 24 university students with psychiatric disabilities identified five areas of concern: problems with focusing attention and organization, low self-esteem, problems with trust, stigma, and high stress levels. Findings point to need for comprehensive services, including peer support group, one-to-one…

  14. Concepts Concerning 'Disease' Causation, Control, and the current ...

    African Journals Online (AJOL)

    2008-12-05

    Dec 5, 2008 ... Introduction. Concepts concerning the cause of disease transformed with the evolution of human culture and remained inseparable from whatever system of beliefs was present in any given society, not much different from today. For example, ancient Mesopotamians believed an individual god ruled each ...

  15. Food shopping and weight concern. Balancing consumer and body normality

    DEFF Research Database (Denmark)

    Nielsen, Annemette Ljungdalh; Holm, Lotte

    2014-01-01

    The desire to achieve a normal, culturally acceptable body is often seen as the main driver of food-consumption practices adopted by individuals who are concerned about their body weight. In social research into weight management self-control is therefore often a central theme. Turning the focus...

  16. Living with Waste: Major Sources of Worries and Concerns about ...

    African Journals Online (AJOL)

    This is one part of a twin paper that addresses the individual and community level impacts around landfills in Lagos metropolis. While this paper examines the major sources of worries and concerns about landfills in Lagos metropolis, the second paper examines the coping mechanisms in response to impacts experienced ...

  17. Short-Term Neurodevelopmental Outcome in Congenital Diaphragmatic Hernia: The Impact of Extracorporeal Membrane Oxygenation and Timing of Repair.

    Science.gov (United States)

    Danzer, Enrico; Hoffman, Casey; D'Agostino, Jo Ann; Connelly, James T; Waqar, Lindsay N; Gerdes, Marsha; Bernbaum, Judy; Rintoul, Natalie E; Herkert, Lisa M; Peranteau, William H; Flake, Alan W; Adzick, N Scott; Hedrick, Holly L

    2018-01-01

    The purpose of this study was to assess the need and timing of extracorporeal membrane oxygenation in relation to congenital diaphragmatic hernia repair as modifiers of short-term neurodevelopmental outcomes. Retrospective study. A specialized tertiary care center. Between June 2004 and February 2016, a total of 212 congenital diaphragmatic hernia survivors enrolled in our follow-up program. Neurodevelopmental outcome was assessed at a median age of 22 months (range, 5-37) using the Bayley Scales of Infant Development, third edition. Fifty patients (24%) required extracorporeal membrane oxygenation support. Four patients (8%) were repaired prior to cannulation, 25 (50%) were repaired on extracorporeal membrane oxygenation, and 21 (42%) were repaired after decannulation. None. Children with congenital diaphragmatic hernia, who required extracorporeal membrane oxygenation scored on average 4.6 points lower on cognitive composite (p = 0.031) and 9.2 points lower on the motor composite (p < 0.001). Language scores were similar between groups. Mean scores for children with congenital diaphragmatic hernia repaired on extracorporeal membrane oxygenation were significantly lower for cognition (p = 0.021) and motor (p = 0.0005) outcome. Language scores were also lower, but did not reach significance. A total of 40% of children repaired on extracorporeal membrane oxygenation scored below average in all composites, whereas only 9% of the non-extracorporeal membrane oxygenation, 4% of the repaired post-extracorporeal membrane oxygenation, and 25% of the repaired pre-extracorporeal membrane oxygenation patients scored below average across all domains. Only 20% of congenital diaphragmatic hernia survivors repaired on extracorporeal membrane oxygenation support scored within the average range for all composite domains. Duration of extracorporeal membrane oxygenation support was not associated with a higher likelihood of adverse cognitive (p = 0.641), language (p = 0.147), or

  18. Bilateral childhood visual impairment: child and parent concerns.

    Science.gov (United States)

    Liebermann, Laura; Leske, David A; Hatt, Sarah R; Castañeda, Yolanda S; Wernimont, Suzanne M; Cheng-Patel, Christina S; Birch, Eileen E; Holmes, Jonathan M

    2017-06-01

    To identify specific health-related quality of life and visual function concerns affecting children with bilateral visual impairment as expressed by children or one of their parents (proxy) and concerns affecting the parents themselves. A total of 37 children visual impairment (visual acuity worse than 20/70 in the better eye) and one parent for each child were prospectively enrolled. Semistructured individual interviews were performed with children 5-15 years of age (n = 16) and with one parent for each child (ages 0-15 years, N = 37). Interview transcripts were analyzed using NVivo software. Categories of concern were identified from both child and parent interviews, from which broad themes were identified. The frequencies of the themes and specific categories of concerns were calculated. Regarding the child's experience, categories of concern were grouped into 6 themes: visual function (expressed by 13 of 16 children [81%] and 33 of 37 parents [89%]), treatment (63% and 54%), emotions (50% and 68%), social (50% and 70%), physical discomfort (50% and 22%), and worry (38% and 8%). Concerns expressed regarding the parents' own experience were grouped into 5 themes: worry (100%), compensate-adjust for condition (89%), treatment (84%), emotions (81%), and affects family (46%). Individual interviews identified a wide spectrum of concerns in children with visual impairment and their parents, affecting functional, emotional, social and physical domains. Specific concerns will be used to develop patient-derived questionnaires for quantifying the effects of visual impairment on children and parents in everyday life. Copyright © 2017 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

  19. [Individual consciousness].

    Science.gov (United States)

    Chaĭlakhian, L M

    2009-01-01

    The main modern concepts on the consciousness nature are considered. Together with the dualistic concepts, there exist concepts the adherents of which find it possible to get to know the origin of consciousness on the basis of natural science. A critical analysis of those concepts brings the author to the conclusion that they do not solve the main problem of individual consciousness: how subjective elements of consciousness arise in the brain as a result of objectively registered processes. The main reason of failures to solve said problem is considered by the author in the fact that the subjective categories of consciousness are not really subject to science. Nevertheless, it does not mean the dualism is to be inevitably accepted. In fact, the subjective categories arise in the limits of a life the area of which is substantially wider than that of science. An original information and physical hypothesis is being set up that provides for necessary premises and conditions enabling the origination of subjective categories of consciousness during the progressive natural evolution of living systems.

  20. Resource implications of preparing individual participant data from a clinical trial to share with external researchers.

    Science.gov (United States)

    Tudur Smith, Catrin; Nevitt, Sarah; Appelbe, Duncan; Appleton, Richard; Dixon, Pete; Harrison, Janet; Marson, Anthony; Williamson, Paula; Tremain, Elizabeth

    2017-07-17

    Demands are increasingly being made for clinical trialists to actively share individual participant data (IPD) collected from clinical trials using responsible methods that protect the confidentiality and privacy of clinical trial participants. Clinical trialists, particularly those receiving public funding, are often concerned about the additional time and money that data-sharing activities will require, but few published empirical data are available to help inform these decisions. We sought to evaluate the activity and resources required to prepare anonymised IPD from a clinical trial in anticipation of a future data-sharing request. Data from two UK publicly funded clinical trials were used for this exercise: 2437 participants with epilepsy recruited from 90 hospital outpatient clinics in the SANAD trial and 146 children with neuro-developmental problems recruited from 18 hospitals in the MENDS trial. We calculated the time and resources required to prepare each anonymised dataset and assemble a data pack ready for sharing. The older SANAD trial (published 2007) required 50 hours of staff time with a total estimated associated cost of £3185 whilst the more recently completed MENDS trial (published 2012) required 39.5 hours of staff time with total estimated associated cost of £2540. Clinical trial researchers, funders and sponsors should consider appropriate resourcing and allow reasonable time for preparing IPD ready for subsequent sharing. This process would be most efficient if prospectively built into the standard operational design and conduct of a clinical trial. Further empirical examples exploring the resource requirements in other settings is recommended. SANAD: International Standard Randomised Controlled Trials Registry: ISRCTN38354748 . Registered on 25 April 2003. EU Clinical Trials Register Eudract 2006-004025-28 . Registered on 16 May 2007. International Standard Randomised Controlled Trials Registry: ISRCTN05534585 /MREC 07/MRE08

  1. Pharmacokinetics of two formulations of omeprazole administered through a gastrostomy tube in patients with severe neurodevelopmental problems

    Science.gov (United States)

    Boussery, Koen; De Smet, Julie; De Cock, Pieter; Vande Velde, Saskia; Mehuys, Els; De Paepe, Peter; Remon, Jean Paul; Van Bocxlaer, Jan F P; Van Winckel, Myriam

    2011-01-01

    AIMS Omeprazole is often administered through a gastrostomy tube as either (i) a Multiple Unit Pellet System (MUPS®) tablet disintegrated in water (MUPS® formulation), or (ii) a suspension in 8.4% sodium bicarbonate (suspension formulation). This bioavailability study evaluates this practice in tube-fed patients with severe neurodevelopmental problems. METHODS Nonblinded, two-phase cross-over trial. RESULTS In seven of 10 patients, bioavailability was higher for the suspension formulation than for the MUPS® formulation. Median (90% confidence interval) area under the plasma concentration–time curve ratio (MUPS® over suspension) was 0.5 (0.06–2.37). CONCLUSIONS In this population, omeprazole MUPS® formulation has no apparent advantage over the more easily administered suspension formulation. PMID:21658093

  2. Effect of Neuroinflammation on Synaptic Organization and Function in the Developing Brain: Implications for Neurodevelopmental and Neurodegenerative Disorders

    Directory of Open Access Journals (Sweden)

    Amin Mottahedin

    2017-07-01

    Full Text Available The brain is a plastic organ where both the intrinsic CNS milieu and extrinsic cues play important roles in shaping and wiring neural connections. The perinatal period constitutes a critical time in central nervous system development with extensive refinement of neural connections, which are highly sensitive to fetal and neonatal compromise, such as inflammatory challenges. Emerging evidence suggests that inflammatory cells in the brain such as microglia and astrocytes are pivotal in regulating synaptic structure and function. In this article, we will review the role of glia cells in synaptic physiology and pathophysiology, including microglia-mediated elimination of synapses. We propose that activation of the immune system dynamically affects synaptic organization and function in the developing brain. We will discuss the role of neuroinflammation in altered synaptic plasticity following perinatal inflammatory challenges and potential implications for neurodevelopmental and neurodegenerative disorders.

  3. Neuro-developmental outcome at 18 months in premature infants with diffuse excessive high signal intensity on MR imaging of the brain

    Energy Technology Data Exchange (ETDEWEB)

    Hart, Anthony [Sheffield Teaching Hospitals NHS Foundation Trust, Department of Neonatology, Sheffield (United Kingdom); University of Sheffield, Department of Academic Radiology, Sheffield, South Yorkshire (United Kingdom); Whitby, Elspeth; Paley, Martyn [University of Sheffield, Department of Academic Radiology, Sheffield, South Yorkshire (United Kingdom); Wilkinson, Stuart; Smith, Michael [Sheffield Teaching Hospitals NHS Foundation Trust, Department of Neonatology, Sheffield (United Kingdom); Alladi, Sathya [Sheffield Teaching Hospitals NHS Foundation Trust, Department of Child Development, Sheffield (United Kingdom)

    2011-10-15

    Diffuse excessive high signal intensity (DEHSI) may represent damage to the white matter in preterm infants, but may be best studied alongside quantitative markers. Limited published data exists on its neuro-developmental implications. The purpose of this study was to assess whether preterm children with DEHSI at term-corrected age have abnormal neuro-developmental outcome. This was a prospective observational study of 67 preterm infants with MRI of the brain around term-equivalent age, including diffusion-weighted imaging (DWI). Images were reported as being normal, overtly abnormal or to show DEHSI. A single observer placed six regions of interest in the periventricular white matter and calculated the apparent diffusion coefficients (ADC). DEHSI was defined as (1) high signal on T2-weighted images alone, (2) high signal with raised ADC values or (3) raised ADC values independent of visual appearances. The neuro-development was assessed around 18 months' corrected age using the Bayley Scales of Infant and Toddler Development (3rd Edition). Standard t tests compared outcome scores between imaging groups. No statistically significant difference in neuro-developmental outcome scores was seen between participants with normal MRI and DEHSI, regardless of which definition was used. Preterm children with DEHSI have similar neuro-developmental outcome to those with normal brain MRI, even if the definition includes objective markers alongside visual appearances. (orig.)

  4. The European Prader-Willi Syndrome Clinical Research Database: An Aid in the Investigation of a Rare Genetically Determined Neurodevelopmental Disorder

    Science.gov (United States)

    Holland, A.; Whittington, J.; Cohen, O.; Curfs, L.; Delahaye, F.; Dudley, O.; Horsthemke, B.; Lindgren, A. -C.; Nourissier, C.; Sharma, N.; Vogels, A.

    2009-01-01

    Background: Prader-Willi Syndrome (PWS) is a rare genetically determined neurodevelopmental disorder with a complex phenotype that changes with age. The rarity of the syndrome and the need to control for different variables such as genetic sub-type, age and gender limits clinical studies of sufficient size in any one country. A clinical research…

  5. Responding to Requests of Families for Unproven Interventions in Neurodevelopmental Disorders: Hyperbaric Oxygen "Treatment" and Stem Cell "Therapy" in Cerebral Palsy

    Science.gov (United States)

    Bell, Emily; Wallace, Tessa; Chouinard, Isabelle; Shevell, Michael; Racine, Eric

    2011-01-01

    Faced with the limitations of currently available mainstream medical treatments and interventions, parents of children with neurodevelopmental disorders often seek information about unproven interventions. These interventions frequently have undetermined efficacy and uncertain safety profiles. In this article, we present a general background and…

  6. A Clinician's Guide to Co-Occurring ADHD among Adolescent Substance Users: Comorbidity, Neurodevelopmental Risk, and Evidence-Based Treatment Options

    Science.gov (United States)

    Hogue, Aaron; Evans, Steven W.; Levin, Frances R.

    2017-01-01

    This article introduces neurodevelopmental and clinical considerations for treating adolescents with co-occurring attention deficit hyperactivity disorder (ADHD) and adolescent substance use (ASU) in outpatient settings. We first describe neurobiological impairments common to ADHD and ASU, including comorbidity with conduct disorder, that evoke a…

  7. Mental Health Concerns: Veterans & Active Duty

    Science.gov (United States)

    ... dialing 1-800-273-8255 and pressing 1. Mental Health Concerns There are three primary mental health concerns ... care or call 911. How Will Asking for Mental Health Treatment Affect My Career? Military personnel have always ...

  8. Concerns and Discomforts of Pregnancy - Varicose Veins

    Science.gov (United States)

    Concerns and Discomforts of Pregnancy - Varicose Veins Varicose veins are enlarged veins you may see on your legs. They can itch, ... Healthy Roads Media project www. healthyroadsmedia. org English - Concerns and Discomforts of Pregnancy (Varicose Veins) Last reviewed 2012

  9. Children with neurodevelopmental disorders and disabilities: a population-based study of healthcare service utilization using administrative data.

    Science.gov (United States)

    Arim, Rubab G; Miller, Anton R; Guèvremont, Anne; Lach, Lucyna M; Brehaut, Jamie C; Kohen, Dafna E

    2017-12-01

    The aim of this study was to identify children with neurodevelopmental disorders and disabilities (NDD/D) and compare their healthcare service utilization to children without NDD/D using provincial linked administrative data. The sample included children aged 6 to 10 years (n=183 041), who were registered with the British Columbia Medical Services Plan. Diagnostic information was used for the identification and classification of NDD/D in six functional domains. Healthcare service utilization included outcomes based on physician claims, prescription medication use, and hospitalization. Overall, 8.3% of children were identified with NDD/D. Children with NDD/D had higher healthcare service utilization rates than those without NDD/D. Effect sizes were: very large for the number of days a prescription medication was dispensed; large for the number of prescriptions; medium for the number of physician visits, different specialists visited, number of different prescription medications, and ever hospitalized; and small for the number of laboratory visits, X-ray visits, and number of days hospitalized. The findings have policy implications for service and resource planning. Given the high use of psychostimulants, specialized services for both NDD/D and psychiatric conditions may be the most needed services for children with NDD/D. Future studies may examine patterns of physician behaviours and costs attributable to healthcare service utilization for children with NDD/D. Children with neurodevelopmental disorders and disabilities (NDD/D) have higher healthcare service utilization than those without. Based on provincial population-based linked administrative health data, a sizeable number of children are living with NDD/D. Given the high use of psychostimulants, specialized services for children with both NDD/D and psychiatric conditions may be the most needed services for children with NDD/D. © 2017 Mac Keith Press.

  10. Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.

    Science.gov (United States)

    Rasmussen, Malene B; Nielsen, Jakob V; Lourenço, Charles M; Melo, Joana B; Halgren, Christina; Geraldi, Camila V L; Marques, Wilson; Rodrigues, Guilherme R; Thomassen, Mads; Bak, Mads; Hansen, Claus; Ferreira, Susana I; Venâncio, Margarida; Henriksen, Karen F; Lind-Thomsen, Allan; Carreira, Isabel M; Jensen, Niels A; Tommerup, Niels

    2014-09-01

    Recently, a number of patients have been described with structural rearrangements at 3q13.31, delineating a novel microdeletion syndrome with common clinical features including developmental delay and other neurodevelopmental disorders (NDD). A smallest region of overlapping deletions (SRO) involved five RefSeq genes, including the transcription factor gene ZBTB20 and the dopamine receptor gene DRD3, considered as candidate genes for the syndrome. We used array comparative genomic hybridization and next-generation mate-pair sequencing to identify key structural rearrangements involving ZBTB20 in two patients with NDD. In a patient with developmental delay, attention-deficit hyperactivity disorder, psychosis, Tourette's syndrome and autistic traits, a de novo balanced t(3;18) translocation truncated ZBTB20. The other breakpoint did not disrupt any gene. In a second patient with developmental delay and autism, we detected the first microdeletion at 3q13.31, which truncated ZBTB20 but did not involve DRD3 or the other genes within the previously defined SRO. Zbtb20 directly represses 346 genes in the developing murine brain. Of the 342 human orthologous ZBTB20 candidate target genes, we found 68 associated with NDD. Using chromatin immunoprecipitation and quantitative PCR, we validated the in vivo binding of Zbtb20 in evolutionary conserved regions in six of these genes (Cntn4, Gad1, Nrxn1, Nrxn3, Scn2a, Snap25). Our study links dosage imbalance of ZBTB20 to a range of neurodevelopmental, cognitive and psychiatric disorders, likely mediated by dysregulation of multiple ZBTB20 target genes, and provides new knowledge on the genetic background of the NDD seen in the 3q13.31 microdeletion syndrome. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  11. “Selfish spermatogonial selection”: a novel mechanism for the association between advanced paternal age and neurodevelopmental disorders

    Science.gov (United States)

    Goriely, Anne; McGrath, John J.; Hultman, Christina M.; Wilkie, Andrew O.M.; Malaspina, Dolores

    2014-01-01

    Objectives There is robust evidence from epidemiological studies that the offspring of older fathers have an increased risk of neurodevelopmental disorders such as schizophrenia and autism. Here we present a novel mechanism that may contribute to this association. Methods Narrative review. Results Because the male germ cell undergoes many more cell divisions across the reproductive age range, copy-errors taking place in the paternal germline are associated with de novo mutations in the offspring of older men. Recently it has been recognized that somatic mutations in male germ cells that modify proliferation via dysregulation of the RAS pathway can lead to within-testis expansion of mutant clonal lines. First identified in association with rare paternal age-effect disorders (e.g. Apert syndrome, achondroplasia), this process is known as ‘selfish spermatogonial selection’. This mechanism will (a) favor propagation of germ cells carrying pathogenic mutations, (b) increasingly skew the mutational profile of sperm as men age, and (c) result in an enrichment of de novo mutations in the offspring of older fathers that preferentially impact on specific cellular signaling pathways. This mechanism offers a parsimonious explanation not only for the association between advanced paternal age and various neurodevelopmental disorders, but also provides insights into the genetic architecture (role of de novo mutations), neurobiological correlates (altered cell cycle) and some epidemiological features of these disorders. We outline hypotheses to test this model. Conclusions In light of our current understanding of the genetic networks involved in neurocognitive disorders and the principles of selfish spermatogonial selection, we speculate that some pathogenic mutations associated with these disorders are the consequence of a selfish mechanism originating in the aging testis. Given the secular changes for delayed parenthood in most societies, this hypothesis has important public

  12. Sequential cranial ultrasound and cerebellar diffusion weighted imaging contribute to the early prognosis of neurodevelopmental outcome in preterm infants.

    Directory of Open Access Journals (Sweden)

    Margaretha J Brouwer

    Full Text Available OBJECTIVE: To evaluate the contribution of sequential cranial ultrasound (cUS and term-equivalent age magnetic resonance imaging (TEA-MRI including diffusion weighted imaging (DWI to the early prognosis of neurodevelopmental outcome in a cohort of very preterm infants (gestational age [GA] <31 weeks. STUDY DESIGN: In total, 93 preterm infants (median [range] GA in weeks: 28.3 [25.0-30.9] were enrolled in this prospective cohort study and underwent early and term cUS as well as TEA-MRI including DWI. Early cUS abnormalities were classified as normal, mild, moderate or severe. Term cUS was evaluated for ex-vacuo ventriculomegaly (VM and enlargement of the extracerebral cerebrospinal fluid (eCSF space. Abnormalities on T1- and T2-weighted TEA-MRI were scored according to Kidokoro et al. Using DWI at TEA, apparent diffusion coefficients (ADCs were measured in four white matter regions bilaterally and both cerebellar hemispheres. Neurodevelopmental outcome was assessed at two years' corrected age (CA using the Bayley Scales of Infant and Toddler Development, third edition. Linear regression analysis was conducted to explore the correlation between the different neuroimaging modalities and outcome. RESULTS: Moderate/severe abnormalities on early cUS, ex-vacuo VM and enlargement of the eCSF space on term cUS and increased cerebellar ADC values on term DWI were independently associated with worse motor outcome (p<.05. Ex-vacuo VM on term cUS was also related to worse cognitive performance at two years' CA (p<.01. CONCLUSION: These data support the clinical value of sequential cUS and recommend repeating cUS at TEA. In particular, assessment of moderate/severe early cUS abnormalities and ex-vacuo VM on term cUS provides important prognostic information. Cerebellar ADC values may further aid in the prognostication of gross motor function.

  13. Body weight concerns: Cross-national study and identification of factors related to eating disorders

    OpenAIRE

    Silva, Wanderson Roberto da; Santana, Moema de Souza; Maroco, João; Maloa, Benvindo Felismino Samuel; Campos, Juliana Alvares Duarte Bonini

    2017-01-01

    Background Body weight concerns are common among individuals with eating disorders, and this construct can be assessed using psychometric instruments. The Weight Concerns Scale (WCS) is commonly used to assess body weight concerns. Aims To evaluate the psychometric properties of the WCS with Brazilian, Portuguese, and Mozambican female college students; to estimate body weight concerns; and to identify factors related to eating disorders. Methods Confirmatory factor analysis was performed. Fa...

  14. The incidence of unprovoked seizures and occurrence of neurodevelopmental comorbidities in children at the time of their first epileptic seizure and during the subsequent six months.

    Science.gov (United States)

    Åndell, Eva; Tomson, Torbjörn; Carlsson, Sofia; Hellebro, Eva; Andersson, Tomas; Adelöw, Cecilia; Åmark, Per

    2015-07-01

    To evaluate the incidence of unprovoked seizures in children and the prevalence of related neurodevelopmental comorbidities at the time of the presumed first seizure and six months thereafter. The medical records of all children (0-18 years of age) seeking medical attention as the result of a first unprovoked seizure between September 1, 2001 and December 31, 2006, and registered in the population-based Stockholm Incidence Registry of Epilepsy (SIRE) were reviewed. Neurodevelopmental comorbidities were evaluated on the basis of the medical records from this first visit and from other healthcare during the following six months. The incidence of unprovoked seizures was between 30 and 204/100,000 person years (n=766) in the different age groups. It was highest among the youngest children and lowest among the 18-year-olds with small gender differences. The most common neurodevelopment comorbidities were developmental delay (22%, CI: 19-25%), speech/language and learning difficulties (23%, CI: 20-26%) and intellectual disability (16%, CI: 13-18%). The types of neurodevelopmental comorbidity varied by age at the time of seizure onset, with cerebral palsy being more common among the 0-5-year-olds, attention deficits among the 6-16-year-olds, and autism and psychiatric diagnosis among the older children. An associated neurodevelopmental comorbidity was more common among those experiencing recurrent than single seizures during follow-up six months from the index seizure (42% versus 66%). In 68% (CI: 64-71%) of the children there was no known or suspected neurodevelopmental comorbidity. The incidence of unprovoked, non-febrile seizures among 0-18-year-olds included in the SIRE was 67/100,000 person-years. Neurodevelopmental comorbidities were common already at the time of onset of the seizure disorder, indicating that neither seizure treatment nor seizures were the underlying cause of other neurodevelopmental symptoms in these patients during the period studied. Copyright

  15. Crosscutting concerns in J2EE applications

    NARCIS (Netherlands)

    A. Mesbah (Ali); A. van Deursen (Arie)

    2005-01-01

    textabstractWe explore the evolution benefits of adopting aspects in a J2EE setting by studying crosscutting concerns in a typical J2EE application. To identify these concerns, we take a top-down as well as a bottom-up approach. In the top-down view we focus on typical concerns that are known to be

  16. Crosscutting concerns in J2EE applications

    NARCIS (Netherlands)

    A. Mesbah (Ali); A. van Deursen (Arie)

    2005-01-01

    htmlabstract We explore the evolution benefits of adopting aspects in a J2EE setting by studying crosscutting concerns in a typical J2EE application. To identify these concerns, we take a top-down as well as a bottom-up approach. In the topdown view we focus on typical concerns that are known to be

  17. Writing Centre Tutoring Sessions: Addressing Students' Concerns

    Science.gov (United States)

    Winder, Roger; Kathpalia, Sujata S.; Koo, Swit Ling

    2016-01-01

    The guiding principle behind university writing centres is to focus on the process of writing rather than the finished product, prioritising higher order concerns related to organisation and argumentation of texts rather than lower order concerns of grammar and punctuation. Using survey-based data, this paper examines students' concerns regarding…

  18. Neurodevelopmental implications of the use of sedation and analgesia in neonates.

    Science.gov (United States)

    Davidson, Andrew; Flick, Randall P

    2013-09-01

    Laboratory studies have shown that general anesthetics may cause accelerated apoptosis and other adverse morphologic changes in neurons of the developing brain. The mechanism may be related to the neuronal quiescence or inactivity associated with anesthetic exposure. Few data exist on how brief anesthetic exposure may affect neurodevelopment in the newborn. Good evidence however shows that untreated pain and stress have an adverse effect on neurodevelopment, and therefore, at this stage, providing effective analgesia, sedation, and anesthesia would seem to be more important than concern over neurotoxicity. Copyright © 2013 Elsevier Inc. All rights reserved.

  19. Coping with sexual concerns after cancer.

    Science.gov (United States)

    Reese, Jennifer Barsky

    2011-07-01

    This review presents an overview of recent developments in research examining coping with the effects of cancer treatment on sexuality. A search was conducted using PubMed and Web of Knowledge to find papers published or in press in 2010. Papers examining coping efforts, effects of cancer treatment in special populations (e.g., advanced cancer, non-western populations), or on broad dimensions of sexuality, and psychosocial and physiological intervention studies addressing sexual issues in cancer were included. Findings underscore the complex effects of treatments (e.g., hormonal therapy for prostate cancer) on patients' sexuality. Studies suggest that successful coping efforts often occur within the context of the relationship and frequently include a process of adjusting one's concept of sexual function and activity through shifting to thoughts and behaviors that center on intimacy and sexual activities other than intercourse (e.g., 'flexible coping'). Results confirm the importance of sexual issues to individuals with cancer and argue for more research on sexual effects of cancer treatment in understudied populations and further empirical studies examining coping with sexual concerns after cancer. Clinical implications include the need for providers to address the broader range of sexual effects of treatments beyond sexual performance.

  20. Environmental Concerns and Conscious Consum: Mine, yours and our Interests

    Directory of Open Access Journals (Sweden)

    Ceres Grehs Beck

    2012-12-01

    Full Text Available Respect the limits of the nature is a challenge that emerges in contemporary society. In this sense, this paper aimed to identify the values ​​and interests that dominate the decision process and that characterize the environmental concerns of consumers. The application of 33 in-depth interviews associated with the projective technique allowed identify if the concerns are related to the preservation of the global environment (our interests and to the welfare of the community (your interests or to fulfill selfish desires (my interests. The qualitative content analysis guided by Bardin (1977 showed high environmental concern, however it is clear that prevails values ​​linked to individualism, passivity, immediate benefits and a strong selfishness predominates in the behaviors of the respondents.

  1. Intellectually disabled students’ conceptions concerning the earth and heavenly bodies

    Directory of Open Access Journals (Sweden)

    Engin Baysen

    2014-08-01

    Full Text Available Learning scientific concepts are crucial for both normally achieving and intellectually disabled students attending inclusion classes. This research study aimed to reveal intellectually disabled students’ conceptions and thinkings utilizing data of interviews and drawings concerning the earth and heavenly bodies and comparing them with the findings belonging to those showing normal mental achievement. Thirty intellectually disabled students (19 boys and 11 girls participated to this research. They were questioned individually using clinical interview technique. Intellectually disabled students have main similarities to those of normally achieving concerning the phenomenon. All the students participating in the present research study do have misconceptions concerning the phenomenon. Their thinking approaches (tendencies and the way they are affected by certain context while constructing their conceptions is similar to those of normally achieving. They used their concepts consistently and showed theory-like mental constructions.

  2. Neuroanatomical basis of concern-based altruism in virtual environment.

    Science.gov (United States)

    Patil, Indrajeet; Zanon, Marco; Novembre, Giovanni; Zangrando, Nicola; Chittaro, Luca; Silani, Giorgia

    2017-02-22

    Costly altruism entails helping others at a cost to the self and prior work shows that empathic concern (EC) for the well-being of distressed and vulnerable individuals is one of the primary motivators of such behavior. However, extant work has investigated costly altruism with paradigms that did not feature self-relevant and severe costs for the altruist and have solely focused on neurofunctional, and not neuroanatomical, correlates. In the current study, we used a contextually-rich virtual reality environment to study costly altruism and found that individuals who risked their own lives in the virtual world to try to save someone in danger had enlarged right anterior insula and exhibited greater empathic concern than those who did not. These findings add to the growing literature showing the role of caring motivation in promoting altruism and prosociality and its neural correlates in the right anterior insula. Copyright © 2017 Elsevier Ltd. All rights reserved.

  3. Concerning the phenomenon of the Kosovan mafia

    Directory of Open Access Journals (Sweden)

    Ćirić Jovan

    2006-01-01

    Full Text Available The theme of Kosovan mafia is a theme about which much is written and carefully scrutinized in the world. A great number of independent analysts from abroad suggests that it represents one of the most successful, highly organized and most dangerous mafias in the world. This is the pivotal theme of this article. The author presents here an entire range of articles and analyses which appear using the principal theme of Albanian mafia in foreign, west-European and American newspapers as well as in expert magazines. The author points out that a whole cross section of high ranking international officials, from representatives of the OECD, UN, the ex-ombudsman for Kosovo up to officials from international organizations such as "Interpol", "Europol", or individual police-experts from the countries of the EU, i.e. the U.S.A. talk completely openly about the fact that Kosovo has become a lawless country almost practically under mafia rule. Hundreds, even thousands of narratives which can be found on the "Internet" concerning this theme, and to which the author alludes, indicate that around 40% of heroin traded in the European markets and the U.S.A. originate from the Albanian mafia in Kosovo, who has used that revenue to finance the acquisition of weapons for the "OVK" ("Kosovo Liberation Army", an organization which precisely due to those activities was at that time on the black lists of both the American State Department and the American Agency for the fight against drugs ("DEA" / Drug Enforcement Agency. However, all those factors did not prevent political figures from the U.S.A. and Europe to neglect all that very rapidly by aligning themselves on the side of that very same "OVK", an organization for which they also had sufficient and reliable proof that it collaborates very closely with many terrorist organizations, above all with those under the leadership of Usama bin-Laden. The essence concerns non-principled alliances with the narco-mafia and

  4. Positional Concerns and Institutions: Some Arguments for Regulation

    Directory of Open Access Journals (Sweden)

    Xavier Landes

    2014-01-01

    Full Text Available People care about their relative standing in the distribution of various goods and positions. This fact is increasingly discussed in heterodox economic circles because it challenges the view of a rational, self-interested individual as presented in mainstream economics. Nevertheless, more than their implications for economics, positional concerns imply important normative dimensions. There have been presumed to be a symptom of envy, reduce people’s happiness, and create problems of social interaction or economic inefficiencies. Individuals are, for instance, prone to pick states of the world that improve their relative standing, but worsen the absolute situation of everyone else, including themselves. This article offers a typology of the normative justifications for why institutions could be required to regulate positional concerns. The intent is to prove that some are more convincing than others, namely that invoking envy or subjective well-being is not fully satisfying for regulating positional concerns. More compelling reasons seem, in complement with efficiency, to be related to considerations for equality. In other words, if institutions could have strong reasons to pay attention to and regulate positional concerns, it would be in virtue of their impact on the social product and individuals’ conditions of living.

  5. Assessing the independent and joint effects of un-medicated prenatal depressive symptoms and alcohol consumption in pregnancy and infant neurodevelopmental outcomes

    Science.gov (United States)

    Bandoli, G; Coles, CD; Kable, JA; Wertelecki, W; Granovska, IV; Pashtepa, AO; Chambers, CD

    2016-01-01

    Background Prenatal alcohol exposure (PAE) is an established risk factor for neurodevelopmental deficits in the offspring. Prenatal depression has been associated with neurodevelopmental deficits in the offspring, although investigations into un-medicated prenatal depression have been inconsistent. We hypothesized that un-medicated prenatal depressive symptoms would independently and jointly with PAE predict neurodevelopmental outcomes in infant offspring. Methods We studied 344 participants from a randomized clinical trial of multivitamin supplements in pregnant women in Ukraine. Women were recruited based upon peri-conceptional alcohol use and followed up to 12 months postpartum. Prenatal depressive symptoms were assessed at approximately 32 weeks of gestation using the Beck Depression Scale. Neurodevelopment was assessed with the Bayley Scales for Infant Development II Mental Development Index (MDI) and Psychomotor Development Index (PDI) at 6 and 12 months postpartum. Generalized linear regression models were constructed to assess the independent and joint effects of prenatal depressive symptoms and PAE in models adjusted for sociodemographic and pregnancy characteristics. Results PAE was independently associated with deficits in neurodevelopmental outcomes at 6 and 12 months, however, level of prenatal depressive symptoms was not. We found marginal evidence of synergism of depressive symptoms and PAE, with larger deficits in those with both exposures observed for the PDI-6 months (p=0.05) and MDI-12 months (p=0.09). Additionally, there was a suggestion of sexual dimorphism; females had stronger deficits from joint exposures than males (depressive symptom (MDI-6 months) female: −8.28, 95% CI −13.06, −3.49; male: 0.68, 95% CI −4.58, 5.94; p for interaction 0.04). While not statistically significant for the MDI or PDI at 12 months, the trend persisted. Conclusion Infants exposed to PAE and prenatal depression may be at an increased risk of

  6. MR imaging of term infants with hypoxic-ischaemic encephalopathy as a predictor of neurodevelopmental outcome and late MRI appearances

    Energy Technology Data Exchange (ETDEWEB)

    Twomey, Eilish; Ryan, Stephanie [Children' s University Hospital, Department of Radiology, Dublin (Ireland); Twomey, Anne; Murphy, John [National Maternity Hospital, Department of Neonatology, Dublin (Ireland); Donoghue, Veronica B. [National Maternity Hospital, Department of Radiology, Dublin (Ireland); Children' s University Hospital, Department of Radiology, Dublin (Ireland)

    2010-09-15

    Morbidity attributable to hypoxic-ischaemic injury (HIE) in the perinatal period remains problematic, and timely and accurate assessment of the degree of injury is required for clinical management and prognosis. Conventional MR sequences typically appear normal in the first 48 h post HIE. While diffusion-weighted imaging (DWI) and apparent diffusion coefficient (ADC) maps register the injury earlier, perhaps within the first 24 h, it has been suggested that there may be a propensity at that early stage to underestimate the lesion severity or extent. To assess whether MR imaging that included DWI, measured ADC values and T1- and T2-weighted sequences ultimately correlated with either neurodevelopmental outcome or with late MR imaging at 2 years of age. In addition, we wished to compare the performance of MR imaging with cranial US imaging. All infants presenting with HIE who had an MRI within 10 days of life were eligible for enrollment and subsequently underwent a full neurodevelopmental assessment at 2 years of age. All children underwent repeat MRI at this time. All neonates had at least one cranial US study. The US findings were categorized as normal, abnormalities confined to the cerebral cortex and subcortical white matter, isolated central grey matter hyperechogenicity, and central hyperechogenicity combined with cerebral cortical/subcortical changes. All MRI studies were retrospectively reviewed by three radiologists. The patterns of injury on the early DWI and ADC maps and early T1- and T2-W studies were recorded as diffuse, central, watershed or atypical. The patterns of signal abnormality were assessed using a scoring system that yielded four separate scores [basal ganglia (BG), watershed (W), BG/W and summation (S)] for the three sets of images, a total of 12 scores in all. The appearance of the posterior limb of the internal capsule (PLIC) on T1-W inversion recovery sequences and of the corpus callosum on all sequences was also documented. After

  7. Concerns of anophthalmic patients wearing artificial eyes.

    Science.gov (United States)

    Pine, Keith; Sloan, Brian; Stewart, Joanna; Jacobs, Robert J

    2011-01-01

    To identify the concerns of experienced artificial eye wearers and investigate whether these had changed since they lost their eye. A retrospective study of private practice patients. Sixty-three experienced artificial eye wearers. An anonymous questionnaire was posted to participants. Paired Wilcoxon tests were used to investigate changes to concern levels over time. Ordinal logistic regression was used to investigate associations of demographic variables with concern levels. Changes in level of concern over time. At the time of initial eye loss, participants were mainly concerned about the health of their remaining eye, coping with monocularity and receiving good advice. Between initial eye loss and the present, reductions in concern occurred with judging distance, peripheral vision, appearance, receiving good advice, comfort, retention, colour and movement of the artificial eye, fullness of orbit, loss of balance and postoperative pain. Patients whose jobs involved the public were more concerned about appearance and reduced visual range than those in other occupations. Participants' chief present-day concerns were health of the remaining eye and watering, crusting and discharge. All results above had a probability vision and appearance all decrease over time may help clinicians in counselling these patients. Watering, crusting and discharge was the chief present-day concern after health of the remaining eye. © 2010 The Authors. Clinical and Experimental Ophthalmology © 2010 Royal Australian and New Zealand College of Ophthalmologists.

  8. Early-Term Birth in Single-Ventricle Congenital Heart Disease After the Fontan Procedure: Neurodevelopmental and Psychiatric Outcomes.

    Science.gov (United States)

    Calderon, Johanna; Stopp, Christian; Wypij, David; DeMaso, David R; Rivkin, Michael; Newburger, Jane W; Bellinger, David C

    2016-12-01

    To investigate the long-term impact of early-term birth (37-38 weeks' gestation) relative to full-term birth (≥39 weeks' gestation) on neurodevelopmental and psychiatric outcomes in adolescents with single-ventricle congenital heart disease (CHD). This cross-sectional cohort study analyzed retrospective medical records from full term adolescents with single-ventricle CHD who underwent the Fontan procedure. Participants underwent neurodevelopmental and psychiatric evaluations, as well as structural brain magnetic resonance imaging. Early-term born adolescents were compared with full-term born adolescents using regression models with adjustments for family social status, birth weight, and genetic abnormality status. Medical and demographic risk factors were examined as well. Compared with the full-term group (n = 100), adolescents born early term (n = 33) scored significantly worse on daily-life executive functions, as measured by the Behavior Rating Inventory of Executive Function parent-report (mean scores: early term, 62.0 ± 10.9; full-term, 55.6 ± 12.2; P = .009) and self-report (P = .02) composites. Adolescents born early term were more likely than those born full term to have a lifetime attention-deficit/hyperactivity disorder (ADHD) diagnosis (early term, 55%; full term, 26%; P = .001). The early-term group also displayed greater psychiatric symptom severity, as indicated by the clinician-reported Brief Psychiatric Rating Scale (mean score: early term, 16.1 ± 8.6; full-term, 12.5 ± 8.2; P = .007). Early-term birth is associated with greater prevalence of executive dysfunction, ADHD diagnosis, and psychiatric problems in adolescents with single-ventricle CHD. Early-term birth should be included as a potential risk factor in the algorithm for closer developmental surveillance in CHD. Copyright © 2016 Elsevier Inc. All rights reserved.

  9. Neurodevelopmental effects of chronic exposure to elevated levels of pro-inflammatory cytokines in a developing visual system

    Directory of Open Access Journals (Sweden)

    Ruthazer Edward S

    2010-01-01

    Full Text Available Abstract Background Imbalances in the regulation of pro-inflammatory cytokines have been increasingly correlated with a number of severe and prevalent neurodevelopmental disorders, including autism spectrum disorder, schizophrenia and Down syndrome. Although several studies have shown that cytokines have potent effects on neural function, their role in neural development is still poorly understood. In this study, we investigated the link between abnormal cytokine levels and neural development using the Xenopus laevis tadpole visual system, a model frequently used to examine the anatomical and functional development of neural circuits. Results Using a test for a visually guided behavior that requires normal visual system development, we examined the long-term effects of prolonged developmental exposure to three pro-inflammatory cytokines with known neural functions: interleukin (IL-1β, IL-6 and tumor necrosis factor (TNF-α. We found that all cytokines affected the development of normal visually guided behavior. Neuroanatomical imaging of the visual projection showed that none of the cytokines caused any gross abnormalities in the anatomical organization of this projection, suggesting that they may be acting at the level of neuronal microcircuits. We further tested the effects of TNF-α on the electrophysiological properties of the retinotectal circuit and found that long-term developmental exposure to TNF-α resulted in enhanced spontaneous excitatory synaptic transmission in tectal neurons, increased AMPA/NMDA ratios of retinotectal synapses, and a decrease in the number of immature synapses containing only NMDA receptors, consistent with premature maturation and stabilization of these synapses. Local interconnectivity within the tectum also appeared to remain widespread, as shown by increased recurrent polysynaptic activity, and was similar to what is seen in more immature, less refined tectal circuits. TNF-α treatment also enhanced the

  10. Neurodevelopmental outcome in extremely preterm infants at 2.5 years after active perinatal care in Sweden.

    Science.gov (United States)

    Serenius, Fredrik; Källén, Karin; Blennow, Mats; Ewald, Uwe; Fellman, Vineta; Holmström, Gerd; Lindberg, Eva; Lundqvist, Pia; Maršál, Karel; Norman, Mikael; Olhager, Elisabeth; Stigson, Lennart; Stjernqvist, Karin; Vollmer, Brigitte; Strömberg, Bo

    2013-05-01

    Active perinatal care increases survival of extremely preterm infants; however, improved survival might be associated with increased disability among survivors. To determine neurodevelopmental outcome in extremely preterm children at 2.5 years (corrected age). Population-based prospective cohort of consecutive extremely preterm infants born before 27 weeks of gestation in Sweden between 2004 and 2007. Of 707 live-born infants, 491 (69%) survived to 2.5 years. Survivors were assessed and compared with singleton control infants who were born at term and matched by sex, ethnicity, and municipality. Assessments ended in February 2010 and comparison estimates were adjusted for demographic differences. Cognitive, language, and motor development was assessed with Bayley Scales of Infant and Toddler Development (3rd edition; Bayley-lll), which are standardized to mean (SD) scores of 100 (15). Clinical examination and parental questionnaires were used for diagnosis of cerebral palsy and visual and hearing impairments. Assessments were made by week of gestational age. At a median age of 30.5 months (corrected), 456 of 491 (94%) extremely preterm children were evaluated (41 by chart review only). For controls, 701 had information on health status and 366 had Bayley-lll assessments. Mean (SD) composite Bayley-III scores (cognition, 94 [12.3]; language, 98 [16.5]; motor, 94 [15.9]) were lower than the corresponding mean scores for controls (cognition, 104 [10.6]; P Cognitive disability was moderate in 5% of the extremely preterm group vs 0.3% in controls (P blindness (0.9% vs 0%; P = .02), and for hearing impairment (moderate and severe, 0.9% vs 0%; P = .02, respectively). Overall, 42% (99% CI, 36%-48%) of extremely preterm children had no disability, 31% (99% CI, 25%-36%) had mild disability, 16% (99% CI, 12%-21%) had moderate disability, and 11% (99% CI, 7.2%-15%) had severe disability. Moderate or severe overall disability decreased with gestational age at birth (22 weeks

  11. Climate change concerns, weather expectations, and willingness to adapt

    Science.gov (United States)

    Klima, K.; Bruine de Bruin, W.; Dessai, S.; Lefevre, C.; Taylor, A.

    2016-12-01

    Adaptation will become necessary as climate change causes more extreme weather worldwide. People with lower climate change concerns may be less willing to act. Yet, people who dismiss climate change may still perceive that extreme weather events are becoming more frequent or more intense. It is possible that weather perceptions and change concerns are partially independent constructs, even if they do inform each other. In this research, we ask: 1) How likely do people think that wet, windy, and hot weather events will become worse by 2050? 2) How willing are people to implement climate change adaptation? and 3) Is willingness to adapt to climate change motivated by perceptions of extreme weather, independent of concerns about climate change? To answer these questions, we surveyed two areas with different political views on climate change and extreme weather events, the United States (474 participants) and the United Kingdom (607 participants). We find expectations for extreme weather and willingness to adapt vary between countries; US residents expect hot weather to worsen the most, and for UK residents the least. Willingness to adapt varies as well. Yet, for each type of weather, weather expectations and climate change concerns independently predict willingness to adapt, in the US and the UK. Our findings have implications for communications about climate change adaptation. Willingness to prepare for extreme weather may be higher among individuals with low climate change concerns if the term `climate change' is omitted from communications.

  12. New measures to capture end of life concerns in Huntington disease: Meaning and Purpose and Concern with Death and Dying from HDQLIFE (a patient reported outcomes measurement system)

    Science.gov (United States)

    Carlozzi, N.E.; Downing, N.R.; McCormack, M.K.; Schilling, S.G.; Perlmutter, J.S.; Hahn, E. A.; Lai, J.-S.; Frank, S.; Quaid, K.A.; Paulsen, J. S.; Cella, D.; Goodnight, S.M.; Miner, J.A.; Nance, M.A.

    2016-01-01

    Purpose Huntington disease (HD) is an incurable terminal disease. Thus, end of life (EOL) concerns are common in these individuals. A quantitative measure of EOL concerns in HD would enable a better understanding of how these concerns impact health-related quality of life. Therefore, we developed new measures of EOL for use in HD. Methods An EOL item pool of 45 items was field tested in 507 individuals with prodromal or manifest HD. Exploratory and confirmatory factor analyses (EFA and CFA, respectively) were conducted to establish unidimensional item pools. Item response theory (IRT) and differential item functioning analyses were applied to the identified unidimensional item pools to select the final items. Results EFA and CFA supported two separate unidimensional sets of items: Concern with Death and Dying (16 items), and Meaning and Purpose (14 items). IRT and DIF supported the retention of 12 Concern with Death and Dying items and 4 Meaning and Purpose items. IRT data supported the development of both a computer adaptive test (CAT) and a 6-item, static short-form for Concern with Death and Dying. Conclusions The HDQLIFE Concern with Death and Dying CAT and corresponding 6-item short form, and the 4-item calibrated HDQLIFE Meaning and Purpose Scale demonstrate excellent psychometric properties. These new measures have the potential to provide clinically meaningful information about end of life preferences and concerns to clinicians and researchers working with individuals with HD. In addition, these measures may also be relevant and useful for other terminal conditions. PMID:27393121

  13. International Students' Concerns: Directions for Supportive Programming.

    Science.gov (United States)

    Bontrager, Terry; And Others

    1990-01-01

    Questionnaire responses from over 75 international students from 40 nations revealed that newly arrived and continuing students had similar concerns. The concern that students ranked highest was finding or keeping a job. Homesickness and general worries ranked second, followed by time for recreational and artistic activities, a need for more…

  14. Teacher Concerns Pertaining to Response to Intervention

    Science.gov (United States)

    Thompson, Leah J.; Fearrington, Jamie Yarbrough

    2013-01-01

    This article examines teacher concerns during the implementation of response to intervention at a small, rural elementary school. The Stages of Concern Questionnaire (George, Hall, & Stiegelbauer, 2008) was administered three times over the course of the academic year to 46 teachers and school staff. The hypothesis was that teacher concerns…

  15. Isolated thoughts and feelings and unsolved concerns

    DEFF Research Database (Denmark)

    Carstensøe-Seidenfaden, Pernille; Teilmann, Grete Katrine; Kensing, Finn

    2017-01-01

    , (2) striving for normality, (3) striving for independence and (4) worrying about future. Although adolescents and parents had same concerns and challenges living with type 1 diabetes, they were experienced differently. Their thoughts and feelings mostly remained isolated and their concerns...

  16. Addressing Teachers' Concerns about Teaching Evolution

    Science.gov (United States)

    Sanders, Martie; Ngxola, Nonyameko

    2009-01-01

    Evolution was introduced into the senior secondary school Life Sciences curriculum in South Africa for the first time in 2008. Research in other countries shows that evolution is an extremely controversial topic to teach, raising serious concerns for teachers. Curriculum change theory dealing with "stages of concern" suggests that…

  17. A review of IPv 6 security concerns

    CSIR Research Space (South Africa)

    Van Heerden, RP

    2012-08-01

    Full Text Available This study focuses on the security concerns of IPv 6. We make a broad introduction to IPv 6 then briefly look at the differences between the IPv 6 and IPv4 protocols, their known vulnerabilities and identify some security concerns when implementing IPv...

  18. Health Concern and Challenges Among School Adolescents

    African Journals Online (AJOL)

    Health Concern and Challenges Among School Adolescents Abebe G. et al 37. ORIGINAL „4 RTJ CLE. Health Concern and ... of adolescents behavioral, social and physical health problems should be given high priority; establishment of special ..... approach dealing with the full range of their health problems (7, 8, 21).

  19. Concerns about the implantable cardioverter defibrillator

    DEFF Research Database (Denmark)

    Pedersen, Susanne S.; van Domburg, Ron T; Theuns, Dominic A M J

    2005-01-01

    Patients with an implantable cardioverter defibrillator (ICD) are at increased risk of anxiety disorders. In turn, anxiety has been identified as a precipitant of ventricular arrhythmias. Anxiety may in part be attributed to concerns about the ICD firing, but the relationship between ICD concerns...

  20. Synapse dysfunction in autism: a molecular medicine approach to drug discovery in neurodevelopmental disorders.

    Science.gov (United States)

    Spooren, Will; Lindemann, Lothar; Ghosh, Anirvan; Santarelli, Luca

    2012-12-01

    Autism and autism spectrum disorders (ASDs) affect millions of individuals worldwide. Despite increased autism diagnoses over the past 30 years, therapeutic intervention is often 'trial and error'. This approach has identified some beneficial agents, but complex heterogeneous disorders require a more personalized treatment regimen. Many ASD risk factors are genetic, implicating impaired synaptic development and function. Monogenetic disorders (e.g., fragile X syndrome, Rett syndrome, and neurofibromatosis) that have phenotypic overlap with autism provide insights into ASD pathology through the identification novel drug targets (e.g., glutamatergic receptors). Encouragingly, some of these novel drug targets provide symptomatic improvement, even in patients who have lived with ASDs for protracted periods of time. Consequently, a targeted drug discovery approach is expected to deliver improved agents for the treatment and management of ASDs. Here, we review the opportunities and challenges in drug development for autism and provide insight into the neurobiology of ASDs. Copyright © 2012 Elsevier Ltd. All rights reserved.

  1. Neurodevelopmental consequences of gestational and lactational exposure to pyrethroids in rats.

    Science.gov (United States)

    Syed, Farah; John, P J; Soni, Inderpal

    2016-12-01

    Indiscriminate use of pyrethroids has raised serious health related concerns, especially about their effects on children. The present study was designed to assess the developmental neurotoxicity of two pyrethroids; bifenthrin (BIF) and β-cyfluthrin (CYF) administered at 1/15 of LD50 in rats. Pregnant females were exposed to the test compounds orally throughout gestation and lactation periods. Neonates were weighed and sexed at birth and were observed for any gross abnormality. Growth, viability and weaning indices were calculated during the lactation period. Exposure to both the compounds did not alter the physical developmental parameters viz. eye opening, pinna detachment, and fur appearance. CYF significantly impaired growth and survivability of pups. Behavioral endpoints assessed in neonates (surface righting, pivoting, and negative geotaxis reflex) as well as adults (motor activity and motor coordination) exhibited marked effect of CYF treatment. Administration of BIF to pregnant dams impaired pivoting in neonates. Decreased locomotion in the open-field and impaired rota-rod performance were also witnessed in BIF-exposed animals. Enhanced oxidative stress was seen in corpus striatum, cerebellum, and hippocampus regions of the brain; reduced catalase, superoxide dismutase, and glutathione peroxidase activities were measured in BIF and CYF treated weanlings. Acetylcholinesterase activity was also found to be lowered following administration of both compounds at PND 21. The present results suggest that exposure to pyrethroids during critical periods of growth can induce long term effects on the behavior of animals. © 2015 Wiley Periodicals, Inc. Environ Toxicol 31: 1761-1770, 2016. © 2015 Wiley Periodicals, Inc.

  2. Moral individualism and elective death.

    Science.gov (United States)

    Prado, C G

    2013-01-01

    Moral individualism (Brooks, 2011; Smith, 2011) is a contemporary interpretation of morality as entirely a matter of personal choice. It is a popular rather than theory-based interpretation and has a number of social generative sources related to present-day preoccupation with individuality and personal distinctiveness. A key generative source is popularization of postmodernism, which prioritizes self-reinvention and provides moral individualism with the appearance of intellectual legitimacy. Moral individualism is a deeply flawed misconception of morality because it abolishes moral communality. My concern in this paper is that in doing so, it seriously jeopardizes productive discussion of the moral permissibility of elective death or choosing to die in despairingly and dire circumstances. Copyright © 2013 Elsevier Ltd. All rights reserved.

  3. A rapid chemical-genetic screen utilizing impaired movement phenotypes in C. elegans: Input into genetics of neurodevelopmental disorders.

    Science.gov (United States)

    Schmeisser, Kathrin; Fardghassemi, Yasmin; Parker, J Alex

    2017-07-01

    Autism spectrum disorder (ASD) is the most common neurodevelopmental disorder with a constantly increasing prevalence. Model organisms may be tools to identify underlying cellular and molecular mechanisms, as well as aid the discovery and development of novel therapeutic approaches. A simple animal such as the nematode Caenorhabditis elegans may provide insights into the extreme complexity of ASD genetics. Despite its potential, using C. elegans in ASD research is a controversial approach and has not yet been used extensively in this context. In this study, we present a screening approach of potential C. elegans mutants as potential ASD models. We screened these mutants for motor-deficiency phenotypes, which can be exploited to study underlying mechanisms of the disorder. Selected motor-deficient mutants were then used in a comprehensive drug screen of over 3900 compounds, including many FDA-approved and natural molecules, that were analyzed for their ability to suppress motility defects caused by ASD-associated gene orthologues. This genetic-chemical approach, i.e. establishing C. elegans models for ASD and screening of a well-characterized compound library, might be a promising first step to understand the mechanisms of how gene variations cause neuronal dysfunction, leading to ASD and other neurological disorders. Positively acting compounds could also be promising candidates for preclinical studies. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. Public health and research funding for childhood neurodevelopmental disorders in Sub-Saharan Africa: a time to balance priorities.

    Science.gov (United States)

    Bakare, Muideen O; Munir, Kerim M; Bello-Mojeed, Mashudat A

    2014-01-01

    Sub-Saharan African (SSA) population consists of about 45% children, while in Europe and North America children population is 10-15%. Lately, attention has been directed at mitigating childhood infectious and communicable diseases to reduce under-five mortality. As the under-five mortality index in Sub-Saharan Africa has relatively improved over the last two decades, more Sub-Saharan African children are surviving beyond the age of five and, apparently, a sizeable percentage of this population would be living with one or more childhood neurodevelopmental disorders (NDD). The distribution of child mental health service resources across the world is unequal. This manifests in the treatment gap of major childhood onset mental health problems in SSA, with the gap being more pronounced for childhood NDD. It is important to balance the public health focus and research funding priorities in Sub-Saharan Africa. We urgently need to define the burden of childhood NDD in the region for healthcare planning and policy formulation.

  5. Public health and research funding for childhood neurodevelopmental disorders in Sub-Saharan Africa: a time to balance priorities

    Directory of Open Access Journals (Sweden)

    Muideen O. Bakare

    2014-01-01

    Full Text Available Sub-Saharan African (SSA population consists of about 45% children, while in Europe and North America children population is 10- 15%. Lately, attention has been directed at mitigating childhood infectious and communicable diseases to reduce under-five mortality. As the under-five mortality index in Sub-Saharan Africa has relatively improved over the last two decades, more Sub-Saharan African children are surviving beyond the age of five and, apparently, a sizeable percentage of this population would be living with one or more childhood neurodevelopmental disorders (NDD. The distribution of child mental health service resources across the world is unequal. This manifests in the treatment gap of major childhood onset mental health problems in SSA, with the gap being more pronounced for childhood NDD. It is important to balance the public health focus and research funding priorities in Sub-Saharan Africa. We urgently need to define the burden of childhood NDD in the region for healthcare planning and policy formulation.

  6. A systematic review of US state environmental legislation and regulation with regards to the prevention of neurodevelopmental disabilities and asthma.

    Science.gov (United States)

    Zajac, Lauren; Sprecher, Eli; Landrigan, Philip J; Trasande, Leonardo

    2009-03-26

    While much attention is focused on national policies intended to protect human health from environmental hazards, states can also prevent environmentally mediated disease through legislation and regulation. However, relatively few analyses have examined the extent to which states protect children from chemical factors in the environment. Using Lexis Nexis and other secondary sources, we systematically reviewed environmental regulation and legislation in the fifty states and the District of Columbia as of July 2007 intended to protect children against neurodevelopmental disabilities and asthma. States rarely address children specifically in environmental regulation and legislation, though many state regulations go far to limit children's exposures to environmental hazards. Northeast and Midwest states have implemented model regulation of mercury emissions, and regulations in five states set exposure limits to volatile organic compound emissions that are more stringent than US Environmental Protection Agency standards. Differences in state environmental regulation and legislation are likely to lead to differences in exposure, and thus to impacts on children's health. The need for further study should not inhibit other states and the federal government from pursuing the model regulation and legislation we identified to prevent diseases of environmental origin in children.

  7. Joint Exposure to Chemical and Nonchemical Neurodevelopmental Stressors in U.S. Women of Reproductive Age in NHANES

    Directory of Open Access Journals (Sweden)

    Amanda M. Evans

    2014-04-01

    Full Text Available Lead (Pb and methyl mercury (MeHg are well established neurodevelopmental toxicants (NDTs, but joint exposure to chemical and nonchemical (e.g., maternal stress stressors has rarely been considered. We characterized exposure to Pb, MeHg and a measure of physiological dysregulation associated with chronic stress and examined race/ethnicity as a predictor of joint NDT exposure. Using data from the 2003−2004 NHANES, potential chronic stress exposure was estimated using allostatic load (AL, a quantitative measure of physiological dysregulation. A Hazard Index was calculated for joint exposure to Pb and MeHg (HINDT. Logistic regression was used to assess the relationship between an indicator of elevated joint NDT exposures (HINDT > 1 and race/ethnicity. The multivariate model was stratified by AL groups to examine effect measure modification. African American (adjusted odds ratio [OR] [95% confidence interval] = 2.2 [1.4, 3.3] and Mexican American (1.4 [0.7, 2.6] women were more likely to have an HINDT > 1 compared to Caucasian women. Chronic stress was identified as an effect measure modifier with the largest ORs among women with high AL scores (African Americans = 4.3 [2.0, 9.5]; Mexican Americans = 4.2 [1.3, 14.1]. Chronic stress was found to modify the association between elevated joint NDT exposure and race/ethnicity, highlighting the importance of evaluating chemical and nonchemical stressor exposures leading to a common endpoint.

  8. Narrative retelling in children with neurodevelopmental disorders: is there a role for nonverbal temporal-sequencing skills?

    Science.gov (United States)

    Johnels, Jakob Åsberg; Hagberg, Bibbi; Gillberg, Christopher; Miniscalco, Carmela

    2013-10-01

    Oral narrative retelling is often problematic for children with communicative and neurodevelopmental disorders. However, beyond a suggested role of language level, little is known about the basis of narrative performance. In this study we examine whether oral narrative retelling might be associated not just with language level but also with skills related to nonverbal narrative temporal sequencing. A diagnostically heterogeneous sample of Swedish-speaking children with a full scale IQ >70 was included in the study (N = 55; age 6-9 years). Narrative retelling skills were measured using the three subscores from the bus story test (BST). Independent predictors included (1) temporal sequencing skills according to a picture arrangement test and (2) a language skills factor consisting of definitional vocabulary and receptive grammar. Regression analyses show that language skills predicted BST Sentence Length and Subordinate Clauses subscores, while both temporal sequencing and language were independently linked with the BST Information subscore. When subdividing the sample based on nonverbal temporal sequencing level, a significant subgroup difference was found only for BST Information. Finally, a principal component analysis shows that temporal sequencing and BST Information loaded on a common factor, separately from the language measures. It is concluded that language level is an important correlate of narrative performance more generally in this diagnostically heterogeneous sample, and that nonverbal temporal sequencing functions are important especially for conveying story information. Theoretical and clinical implications are discussed. © 2013 The Scandinavian Psychological Associations.

  9. Associations of Newborn Brain Magnetic Resonance Imaging with Long-Term Neurodevelopmental Impairments in Very Preterm Children.

    Science.gov (United States)

    Anderson, Peter J; Treyvaud, Karli; Neil, Jeffrey J; Cheong, Jeanie L Y; Hunt, Rodney W; Thompson, Deanne K; Lee, Katherine J; Doyle, Lex W; Inder, Terrie E

    2017-08-01

    To determine the relationship between brain abnormalities on newborn magnetic resonance imaging (MRI) and neurodevelopmental impairment at 7 years of age in very preterm children. A total of 223 very preterm infants (brain MRI scan at term equivalent age. Scans were scored using a standardized system that assessed structural abnormality of cerebral white matter, cortical gray matter, deep gray matter, and cerebellum. Children were assessed at 7 years on measures of general intelligence, motor functioning, academic achievement, and behavior. One hundred eighty-six very preterm children (83%) had both an MRI at term equivalent age and a 7-year follow-up assessment. Higher global brain, cerebral white matter, and deep gray matter abnormality scores were related to poorer intelligence quotient (IQ) (Ps MRI abnormality scores and outcomes. Moderate-severe global abnormality on newborn MRI was associated with a reduction in IQ (-6.9 points), math computation (-7.1 points), and motor (-1.9 points) scores independent of the other potential confounders. Structured evaluation of brain MRI at term equivalent is predictive of outcome at 7 years of age, independent of clinical and social factors. Copyright © 2017 Elsevier Inc. All rights reserved.

  10. Participation of children with neurodevelopmental risk factors in the early rehabilitation program in relation to the level of parental education.

    Science.gov (United States)

    Mikelić, Valentina Matijević; Kosicek, Tena; Crnković, Maja; Radanović, Branko

    2011-12-01

    Many factors that have an adverse effect on fetal growth and development can manifest later in the child's development. Because of the biological basis, children born under the influence of these factors belong to the group of neurorisk children. They need special attention and prompt participation in the early rehabilitation program to encourage the use of brain plasticity. In addition to the biological influences, socioeconomic status affects a wide array of medical, cognitive and socio-emotional consequences in children, which begin before birth and continue into adulthood. This retrospective study included 50 children aged one to three years, hospitalized at Department of Pediatric Rehabilitation, University Department of Rheumatology, Physical Medicine and Rehabilitation, Sestre milosrdnice University Hospital Center in Zagreb. The aim was to determine the frequency of inclusion of children with neurodevelopmental risks in the early rehabilitation program according to the level of parental education. The results showed the highest percentage of parents of neurorisk children to have high school education, while the smallest number of parents had elementary school education. These data pointed to the lack of public awareness of the importance of the early period of life. However, they also indicated the lack of parental knowledge of their rights and opportunities for involvement of their neurorisk children in the early rehabilitation programs.

  11. Assessing mental health in boys with Duchenne muscular dystrophy: Emotional, behavioural and neurodevelopmental profile in an Italian clinical sample.

    Science.gov (United States)

    Colombo, Paola; Nobile, Maria; Tesei, Alessandra; Civati, Federica; Gandossini, Sandra; Mani, Elisa; Molteni, Massimo; Bresolin, Nereo; D'Angelo, Grazia

    2017-07-01

    To evaluate through a comprehensive protocol, the psychopathological profile of DMD boys. The primary aim of this observational study was to describe the emotional and behavioural profile and the neurodevelopmental problems of Italian boys with Duchenne Muscular Dystrophy (DMD); the secondary aim was to explore the relation between psychopathological profile and DMD genotype. 47 DMD boys, aged 2-18, were included in the study and assessed through structured and validated tools including Wechsler scales or Griffiths for cognitive ability, Child Behavior Check List (CBCL), Youth Self Report (YSR) and Strengths and Difficulties Questionnaire (SDQ) for emotional and behavioural features. Patients "at risk" based on questionnaires scores were evaluated by a clinical structured interview using Development and Well Being Assessment (DAWBA) or Autism Diagnostic Observation Schedule (ADOS), as required. The 47 enrolled patients, defined with a Full Scale Intelligence Quotient (FSIQ) of 80.38 (one SD below average), and presenting a large and significant difference in FSIQ in relation to the site of mutation along the dystrophin gene (distal mutations associated with a more severe cognitive deficit), were showing Internalizing Problems (23.4%) and Autism Spectrum Disorders (14.8%). Interestingly, an association of internalizing problems with distal deletion of the DMD gene is documented. Even though preliminary, these data show that the use of validated clinical instruments, that focus on the impact of emotional/behaviour problems on everyday life, allows to carefully identify clinically significant psychopathology. Copyright © 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  12. A systematic review of US state environmental legislation and regulation with regards to the prevention of neurodevelopmental disabilities and asthma

    Directory of Open Access Journals (Sweden)

    Landrigan Philip J

    2009-03-01

    Full Text Available Abstract Background While much attention is focused on national policies intended to protect human health from environmental hazards, states can also prevent environmentally mediated disease through legislation and regulation. However, relatively few analyses have examined the extent to which states protect children from chemical factors in the environment. Methods Using Lexis Nexis and other secondary sources, we systematically reviewed environmental regulation and legislation in the fifty states and the District of Columbia as of July 2007 intended to protect children against neurodevelopmental disabilities and asthma. Results States rarely address children specifically in environmental regulation and legislation, though many state regulations go far to limit children's exposures to environmental hazards. Northeast and Midwest states have implemented model regulation of mercury emissions, and regulations in five states set exposure limits to volatile organic compound emissions that are more stringent than US Environmental Protection Agency standards. Discussion Differences in state environmental regulation and legislation are likely to lead to differences in exposure, and thus to impacts on children's health. The need for further study should not inhibit other states and the federal government from pursuing the model regulation and legislation we identified to prevent diseases of environmental origin in children.

  13. Effects of Johnstone pressure splints combined with neurodevelopmental therapy on spasticity and cutaneous sensory inputs in spastic cerebral palsy.

    Science.gov (United States)

    Kerem, M; Livanelioglu, A; Topcu, M

    2001-05-01

    The purpose of this study was to investigate the effectiveness of Johnstone pressure splints (JPSs) on spasticity and cutaneous sensory inputs in children with spastic cerebral palsy (CP). Thirty-four children with spastic diplegic CP participated in this study. Children whose motor development levels were similar were divided into a treatment and a control group. Each group consisted of 17 participants (six females and 11 males). Mean age of the treatment group was 48.82 months (SEM 4.42), and the control group, 47.52 months (SEM 5.27). The treatment group underwent Bobath's neurodevelopmental therapy (NDT) combined with JPSs. The control group underwent NDT alone five days a week for three months. Before and after treatments, lower-extremity passive range of motion (ROM) by goniometric measurements, spasticity by Modified Ashworth Scale (MAS), and somatosensory evoked potentials (SEPs) were measured. Passive ROM showed significant improvements in both groups (p<0.01). In the treatment group, all MAS scores increased. In the control group, the difference was significant except for values of internal rotator muscles. Improvements in passive ROM in the treatment group were significantly higher than the control group except in hip abduction and external rotation (p<0.05). MAS scores of the treatment group were significantly higher than the control group (p<0.05). SEP values increased in both groups but values of the treatment group were significantly higher than the control group (p<0.05).

  14. Modulation of GABAergic transmission in development and neurodevelopmental disorders: investigating physiology and pathology to gain therapeutic perspectives.

    Science.gov (United States)

    Deidda, Gabriele; Bozarth, Ignacio F; Cancedda, Laura

    2014-01-01

    During mammalian ontogenesis, the neurotransmitter GABA is a fundamental regulator of neuronal networks. In neuronal development, GABAergic signaling regulates neural proliferation, migration, differentiation, and neuronal-network wiring. In the adult, GABA orchestrates the activity of different neuronal cell-types largely interconnected, by powerfully modulating synaptic activity. GABA exerts these functions by binding to chloride-permeable ionotropic GABAA receptors and metabotropic GABAB receptors. According to its functional importance during development, GABA is implicated in a number of neurodevelopmental disorders such as autism, Fragile X, Rett syndrome, Down syndrome, schizophrenia, Tourette's syndrome and neurofibromatosis. The strength and polarity of GABAergic transmission is continuously modulated during physiological, but also pathological conditions. For GABAergic transmission through GABAA receptors, strength regulation is achieved by different mechanisms such as modulation of GABAA receptors themselves, variation of intracellular chloride concentration, and alteration in GABA metabolism. In the never-ending effort to find possible treatments for GABA-related neurological diseases, of great importance would be modulating GABAergic transmission in a safe and possibly physiological way, without the dangers of either silencing network activity or causing epileptic seizures. In this review, we will discuss the different ways to modulate GABAergic transmission normally at work both during physiological and pathological conditions. Our aim is to highlight new research perspectives for therapeutic treatments that reinstate natural and physiological brain functions in neuro-pathological conditions.

  15. Modulation of GABAergic Transmission in Development and Neurodevelopmental Disorders: Investigating Physiology and Pathology to Gain Therapeutic Perspectives

    Directory of Open Access Journals (Sweden)

    Gabriele eDeidda

    2014-05-01

    Full Text Available During mammalian ontogenesis, the neurotransmitter GABA is a fundamental regulator of neuronal networks. In neuronal development, GABAergic signaling regulates neural proliferation, migration, differentiation, and neuronal-network wiring. In the adult, GABA orchestrates the activity of different neuronal cell-types largely interconnected, by powerfully modulating synaptic activity. GABA exerts these functions by binding to chloride-permeable ionotropic GABAA receptors and metabotropic GABAB receptors. According to its functional importance during development, GABA is implicated in a number of neurodevelopmental disorders such as autism, Fragile X, Rett syndrome, Down syndrome, schizophrenia, Tourette's syndrome and neurofibromatosis.The strength and polarity of GABAergic transmission is continuously modulated during physiological, but also pathological conditions. For GABAergic transmission through GABAA receptors, strength regulation is achieved by different mechanisms such as modulation of GABAA receptors themselves, variation of intracellular chloride concentration, and alteration in GABA metabolism. In the never-ending effort to find possible treatments for GABA-related neurological diseases, of great importance would be modulating GABAergic transmission in a safe and possibly physiological way, without the dangers of either silencing network activity or causing epileptic seizures. In this review, we will discuss the different ways to modulate GABAergic transmission normally at work both during physiological and pathological conditions. Our aim is to highlight new research perspectives for therapeutic treatments that reinstate natural and physiological brain functions in neuro-pathological conditions.

  16. Prefrontal cortical responses in children with prenatal alcohol-related neurodevelopmental impairment: A functional near-infrared spectroscopy study.

    Science.gov (United States)

    Kable, Julie A; Coles, Claire D

    2017-11-01

    Disruption in the neural activation of the prefrontal cortex (PFC) in modulating arousal was explored in children with heavy prenatal alcohol exposure (PAE), who have known neurobehavioral impairment. During a task that elicits frustration, functional near-infrared spectroscopy (fNIRS) was used to measure PFC activation, specifically levels of oxygenated (HBO) and deoxygenated (HBR) hemoglobin, in children with PAE (n=18) relative to typically developing Controls (n=12) and a Clinical Contrast group with other neurodevelopmental or behavioral problems (n=14). Children with PAE had less activation during conditions with positive emotional arousal, as indicated by lower levels of HBO in the medial areas of the PFC and higher levels of HBR in all areas of the PFC sampled relative to both other groups. Children in the Control group demonstrated greater differentiation of PFC activity than did children with PAE. Children in the Clinical Contrast group demonstrated the greatest differences in PFC activity between valences of task conditions. Specific patterns of PFC activation differentiated children with PAE from typically developing children and children with other clinical problems. FNIRS assessments of PFC activity provide new insights regarding the mechanisms of commonly seen neurobehavioral dysfunction in children with PAE. Copyright © 2017 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.

  17. Child functional characteristics explain child and family outcomes better than diagnosis: Population-based study of children with autism or other neurodevelopmental disorders/disabilities.

    Science.gov (United States)

    Miller, Anton; Shen, Jane; Mâsse, Louise C

    2016-06-15

    Allocation of resources for services and supports for children with neurodevelopmental disorders/disabilities (NDD/D) is often based on the presence of specific health conditions. This study investigated the relative roles of a child's diagnosed health condition and neurodevelopmental and related functional characteristics in explaining child and family health and well-being. The data on children with NDD/D (ages 5 to 14; weighted n = 120,700) are from the 2006 Participation and Activity Limitation Survey (PALS), a population-based Canadian survey of parents of children with functional limitations/disabilities. Direct and indirect effects of child diagnosis status-autism spectrum disorder (ASD)/not ASD-and functional characteristics (particularly, ASD-related impairments in speech, cognition, and emotion and behaviour) on child participation and family health and well-being were investigated in a series of structural equation models, while controlling for covariates. All models adequately fitted the data. Child ASD diagnosis was significantly associated with child participation and family health and well-being. When ASD-related child functional characteristics were added to the model, all direct effects from child diagnosis on child and family outcomes disappeared; the effect of child diagnosis on child and family outcomes was fully mediated via ASD-related child functional characteristics. Children's neurodevelopmental functional characteristics are integral to understanding the child and family health-related impact of neurodevelopmental disorders such as ASD. These findings have implications for the relative weighting given to functional versus diagnosis-specific factors in considering needs for services and supports.

  18. Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome

    OpenAIRE

    Hempel, A.; Pagnamenta, A.T.; Blyth, M; Mansour, S; McConnell, V; Kou, I; Ikegawa, S.; Tsurusaki, Y.; Matsumoto, N.; Lo-Castro, A.; Plessis, G; Albrecht, B; Battaglia, A.; Taylor, J C; Howard, M. F.

    2016-01-01

    Background \\ud \\ud SOX11 is a transcription factor proposed to play a role in brain development. The relevance of SOX11 to human developmental disorders was suggested by a recent report of SOX11 mutations in two patients with Coffin–Siris syndrome. Here we further investigate the role of SOX11 variants in neurodevelopmental disorders.\\ud \\ud Methods \\ud \\ud We used array based comparative genomic hybridisation and trio exome sequencing to identify children with intellectual disability who hav...

  19. An evaluation of speech production in two boys with neurodevelopmental disorders who received communication intervention with a speech-generating device.

    Science.gov (United States)

    Roche, Laura; Sigafoos, Jeff; Lancioni, Giulio E; O'Reilly, Mark F; Schlosser, Ralf W; Stevens, Michelle; van der Meer, Larah; Achmadi, Donna; Kagohara, Debora; James, Ruth; Carnett, Amarie; Hodis, Flaviu; Green, Vanessa A; Sutherland, Dean; Lang, Russell; Rispoli, Mandy; Machalicek, Wendy; Marschik, Peter B

    2014-11-01

    Children with neurodevelopmental disorders often present with little or no speech. Augmentative and alternative communication (AAC) aims to promote functional communication using non-speech modes, but it might also influence natural speech production. To investigate this possibility, we provided AAC intervention to two boys with neurodevelopmental disorders and severe communication impairment. Intervention focused on teaching the boys to use a tablet computer-based speech-generating device (SGD) to request preferred stimuli. During SGD intervention, both boys began to utter relevant single words. In an effort to induce more speech, and investigate the relation between SGD availability and natural speech production, the SGD was removed during some requesting opportunities. With intervention, both participants learned to use the SGD to request preferred stimuli. After learning to use the SGD, both participants began to respond more frequently with natural speech when the SGD was removed. The results suggest that a rehabilitation program involving initial SGD intervention, followed by subsequent withdrawal of the SGD, might increase the frequency of natural speech production in some children with neurodevelopmental disorders. This effect could be an example of response generalization. Copyright © 2014 ISDN. Published by Elsevier Ltd. All rights reserved.

  20. Sit-to-stand movement changes in preschool-aged children with spastic diplegia following one neurodevelopmental treatment session--a pilot study.

    Science.gov (United States)

    Yonetsu, Ryo; Iwata, Akira; Surya, John; Unase, Kazunori; Shimizu, Junichi

    2015-01-01

    This study was designed to provide a better understanding of how a single neurodevelopmental treatment (NDT) session affects sit-to-stand (STS) movements in children with cerebral palsy (CP). Eight children with spastic diplegia and five typically developing children, aged 4-6 years, participated in this study. The CP participants performed STS movements immediately before and after a 40-min NDT session. Using a three-dimensional, four-camera analysis system, angular movements involving the hip, knee and ankle joints of the participants were obtained. During forward tilt of the trunk, the maximum and final angles after the NDT session significantly decreased compared with those before the session (p diplegia, with limited ability to independently transfer from a sitting position, and dependent on a wheelchair for mobility experience obstacles to enhanced activities of daily life and social participation. A single neurodevelopmental treatment session would enable children with spastic diplegia to perform sit-to-stand movements more efficiently, with selective muscle control. Understanding how a single neurodevelopmental treatment session affects sit-to-stand movements in children with spastic diplegia is invaluable for therapists planning more efficient therapeutic programs and may enable children with spastic diplegia to develop improved mobility.