Survival and Neurodevelopmental Outcomes among Periviable Infants.

Science.gov (United States)

Younge, Noelle; Goldstein, Ricki F; Bann, Carla M; Hintz, Susan R; Patel, Ravi M; Smith, P Brian; Bell, Edward F; Rysavy, Matthew A; Duncan, Andrea F; Vohr, Betty R; Das, Abhik; Goldberg, Ronald N; Higgins, Rosemary D; Cotten, C Michael

2017-02-16

Data reported during the past 5 years indicate that rates of survival have increased among infants born at the borderline of viability, but less is known about how increased rates of survival among these infants relate to early childhood neurodevelopmental outcomes. We compared survival and neurodevelopmental outcomes among infants born at 22 to 24 weeks of gestation, as assessed at 18 to 22 months of corrected age, across three consecutive birth-year epochs (2000-2003 [epoch 1], 2004-2007 [epoch 2], and 2008-2011 [epoch 3]). The infants were born at 11 centers that participated in the National Institute of Child Health and Human Development Neonatal Research Network. The primary outcome measure was a three-level outcome - survival without neurodevelopmental impairment, survival with neurodevelopmental impairment, or death. After accounting for differences in infant characteristics, including birth center, we used multinomial generalized logit models to compare the relative risk of survival without neurodevelopmental impairment, survival with neurodevelopmental impairment, and death. Data on the primary outcome were available for 4274 of 4458 infants (96%) born at the 11 centers. The percentage of infants who survived increased from 30% (424 of 1391 infants) in epoch 1 to 36% (487 of 1348 infants) in epoch 3 (Pneurodevelopmental impairment increased from 16% (217 of 1391) in epoch 1 to 20% (276 of 1348) in epoch 3 (P=0.001), whereas the percentage of infants who survived with neurodevelopmental impairment did not change significantly (15% [207 of 1391] in epoch 1 and 16% [211 of 1348] in epoch 3, P=0.29). After adjustment for changes in the baseline characteristics of the infants over time, both the rate of survival with neurodevelopmental impairment (as compared with death) and the rate of survival without neurodevelopmental impairment (as compared with death) increased over time (adjusted relative risks, 1.27 [95% confidence interval {CI}, 1.01 to 1.59] and 1

Comparing disability amongst immigrants and native-born in Canada.

Science.gov (United States)

Newbold, K Bruce; Simone, Dylan

2015-11-01

Given high levels of immigration into Canada and the associated requirement to understand the health needs of new arrivals, an extensive literature has developed over the past decade that has explored immigrant health issues, including the 'healthy immigrant effect'. Surprisingly, however, issues of disability within the immigrant population have received much less attention. Using data from Statistics Canada, 2006a, 2006b Participation and Activity Limitation Survey (PALS), this paper examines disability and its covariates amongst immigrants relative to non-immigrants in Canada. Compared with their native-born counterparts, recent immigrant arrivals (within the past 10 years) were less likely to report disability and less likely to report a severe disability than the native-born. However, differences in the rates and covariates of disabilities between males and female immigrants were observed, which are partially explained by socioeconomic and sociodemographic effects. The conclusion explores potential reasons why differentials in disability rates are observed, and points to future research directions. Copyright © 2015 Elsevier Ltd. All rights reserved.

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

Memory Processes in Learning Disability Subtypes of Children Born Preterm

OpenAIRE

McCoy, Thomasin E.; Conrad, Amy L.; Richman, Lynn C.; Nopoulos, Peg C.; Bell, Edward F.

2012-01-01

The purpose of this study was to evaluate immediate auditory and visual memory processes in learning disability subtypes of 40 children born preterm. Three subgroups of children were examined: (a) primary language disability group (n = 13), (b) perceptual-motor disability group (n = 14), and (c) no learning disability diagnosis group without identified language or perceptual-motor learning disability (n = 13). Between-group comparisons indicate no significant differences in immediate auditory...

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.

Schizophrenia and the neurodevelopmental continuum:evidence from genomics.

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Owen, Michael J; O'Donovan, Michael C

2017-10-01

The idea that disturbances occurring early in brain development contribute to the pathogenesis of schizophrenia, often referred to as the neurodevelopmental hypothesis, has become widely accepted. Despite this, the disorder is viewed as being distinct nosologically, and by implication pathophysiologically and clinically, from syndromes such as autism spectrum disorders, attention-deficit/hyperactivity disorder (ADHD) and intellectual disability, which typically present in childhood and are grouped together as "neurodevelopmental disorders". An alternative view is that neurodevelopmental disorders, including schizophrenia, rather than being etiologically discrete entities, are better conceptualized as lying on an etiological and neurodevelopmental continuum, with the major clinical syndromes reflecting the severity, timing and predominant pattern of abnormal brain development and resulting functional abnormalities. It has also been suggested that, within the neurodevelopmental continuum, severe mental illnesses occupy a gradient of decreasing neurodevelopmental impairment as follows: intellectual disability, autism spectrum disorders, ADHD, schizophrenia and bipolar disorder. Recent genomic studies have identified large numbers of specific risk DNA changes and offer a direct and robust test of the predictions of the neurodevelopmental continuum model and gradient hypothesis. These findings are reviewed in detail. They not only support the view that schizophrenia is a disorder whose origins lie in disturbances of brain development, but also that it shares genetic risk and pathogenic mechanisms with the early onset neurodevelopmental disorders (intellectual disability, autism spectrum disorders and ADHD). They also support the idea that these disorders lie on a gradient of severity, implying that they differ to some extent quantitatively as well as qualitatively. These findings have important implications for nosology, clinical practice and research. © 2017 World

Neurodevelopmental Outcomes of Infants Born at <29 Weeks of Gestation Admitted to Canadian Neonatal Intensive Care Units Based on Location of Birth.

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Amer, Reem; Moddemann, Diane; Seshia, Mary; Alvaro, Ruben; Synnes, Anne; Lee, Kyong-Soon; Lee, Shoo K; Shah, Prakesh S

2018-05-01

To compare mortality and neurodevelopmental outcomes of outborn and inborn preterm infants born at neurodevelopmental impairment (NDI), and overall NDI were compared between outborn and inborn infants at 18-21 months of age, corrected for prematurity. Of 2951 eligible infants, 473 (16%) were outborn. Mean birth weight (940 ± 278 g vs 897 + 237 g), rates of treatment with antenatal steroids (53.9% vs 92.9%), birth weight small for gestational age (5.3% vs 9.4%), and maternal college education (43.7% vs 53.9%) differed between outborn and inborn infants, respectively (all P values neurodevelopmental impairment were significantly higher in outborn compared with inborn infants admitted to Canadian NICUs. Adverse outcomes were mainly attributed to increased mortality and cerebral palsy in outborn neonates. Copyright © 2017 Elsevier Inc. All rights reserved.

Assisted reproduction and child neurodevelopmental outcomes: a systematic review.

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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.

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 disabilities, genetic abnormalities, and/or a Developmental Quotient below normal limits (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.

Retinopathy of prematurity and neurodevelopmental disabilities in premature infants.

Science.gov (United States)

Beligere, Nagamani; Perumalswamy, Vijayalaksmi; Tandon, Manish; Mittal, Amit; Floora, Jayasheele; Vijayakumar, B; Miller, Marilyn T

2015-10-01

Prematurity is a major global health issue leading to high mortality and morbidity among the survivors. Neurodevelopmental disability (NDD) and retinopathy of prematurity (ROP) are the most common complications of prematurity. In fact, ROP is the second leading cause of childhood blindness in the world. Although there is much information regarding the occurrence of ROP and of NDD in premature infants, there have been few studies on ROP and its association with NDD. The objectives of this article are to review the current literature on the subject and to publish our own findings concerning the association between ROP and NDD in premature infants. The review suggests that although NDDs are related to degree of prematurity, NDD could also be the result of visual impairments resulting from ROP. Our own study shows a close association between NDD and zonal involvement of ROP: higher NDD if zone 1 is involved and less if zone 3 is involved. Copyright © 2015 Elsevier Ltd. All rights reserved.

Hypospadias and increased risk for neurodevelopmental disorders.

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Butwicka, Agnieszka; Lichtenstein, Paul; Landén, Mikael; Nordenvall, Anna S; Nordenström, Anna; Nordenskjöld, Agneta; Frisén, Louise

2015-02-01

Hypospadias (aberrant opening of the urethra on the underside of the penis) occurs in 1 per 300 newborn boys. It has been previously unknown whether this common malformation is associated with increased psychiatric morbidity later in life. Studies of individuals with hypospadias also provide an opportunity to examine whether difference in androgen signaling is related to neurodevelopmental disorders. To elucidate the mechanisms behind a possible association, we also studied psychiatric outcomes among brothers of the hypospadias patients. Registry study within a national cohort of all 9,262 males with hypospadias and their 4,936 healthy brothers born in Sweden between 1973 and 2009. Patients with hypospadias and their brothers were matched with controls by year of birth and county. The following outcomes were evaluated (1) any psychiatric (2) psychotic, (3) mood, (4) anxiety, (5) eating, and (6) personality disorders, (7) substance misuse, (8) attention-deficit hyperactivity disorder (ADHD), (9) autism spectrum disorders (ASD), (10) intellectual disability, and (11) other behavioral/emotional disorders with onset in childhood. Patients with hypospadias were more likely to be diagnosed with intellectual disability (OR 3.2; 95% CI 2.8-3.8), ASD (1.4; 1.2-1.7), ADHD (1.5; 1.3-1.9), and behavioral/emotional disorders (1.4; 1.2-1.6) compared with the controls. Brothers of patients with hypospadias had an increased risk of ASD (1.6; 1.3-2.1) and other behavioral/emotional disorders with onset in childhood (1.2; 0.9-1.5) in comparison to siblings of healthy individuals. A slightly higher, although not statistically significant, risk was found for intellectual disability (1.3; 1.0-1.9). No relation between other psychiatric diagnosis and hypospadias was found. This is the first study to identify an increased risk for neurodevelopmental disorders in patients with hypospadias, as well as an increased risk for ASD in their brothers, suggesting a common familial (genetic and

Neurodevelopmental Reflex Testing in Neonatal Rat Pups.

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Nguyen, Antoinette T; Armstrong, Edward A; Yager, Jerome Y

2017-04-24

Neurodevelopmental reflex testing is commonly used in clinical practice to assess the maturation of the nervous system. Neurodevelopmental reflexes are also referred to as primitive reflexes. They are sensitive and consistent with later outcomes. Abnormal reflexes are described as an absence, persistence, reappearance, or latency of reflexes, which are predictive indices of infants that are at high risk for neurodevelopmental disorders. Animal models of neurodevelopmental disabilities, such as cerebral palsy, often display aberrant developmental reflexes, as would be observed in human infants. The techniques described assess a variety of neurodevelopmental reflexes in neonatal rats. Neurodevelopmental reflex testing offers the investigator a testing method that is not otherwise available in such young animals. The methodology presented here aims to assist investigators in examining developmental milestones in neonatal rats as a method of detecting early-onset brain injury and/or determining the effectiveness of therapeutic interventions. The methodology presented here aims to provide a general guideline for investigators.

Early Childhood Neurodevelopmental Outcomes in Infants Exposed to Infectious Syphilis In Utero.

Science.gov (United States)

Verghese, Valsan P; Hendson, Leonora; Singh, Ameeta; Guenette, Tamara; Gratrix, Jennifer; Robinson, Joan L

2018-06-01

There are minimal neurodevelopmental follow-up data for infants exposed to syphilis in utero. This is an inception cohort study of infants exposed to syphilis in utero. We reviewed women with reactive syphilis serology in pregnancy or at delivery in Edmonton (Canada), 2002 through 2010 and describe the neurodevelopmental outcomes of children with and without congenital syphilis. There were 39 births to women with reactive syphilis serology, 9 of whom had late latent syphilis (n = 4), stillbirths (n = 2) or early neonatal deaths (n = 3), leaving 30 survivors of which 11 with and 7 without congenital syphilis had neurodevelopmental assessment. Those with congenital syphilis were all born to women with inadequate syphilis treatment before delivery. Neurodevelopmental impairment was documented in 3 of 11 (27%) infants with congenital syphilis and one of 7 (14%) without congenital syphilis with speech language delays in 4 of 11 (36%) with congenital syphilis and 3 of 7 (42%) without congenital syphilis. Infants born to mothers with reactive syphilis serology during pregnancy are at high risk for neurodevelopmental impairment, whether or not they have congenital syphilis, so should all be offered neurodevelopmental assessments and early referral for services as required.

Neurodevelopmental Disorders in Low- and Middle-Income Countries

Science.gov (United States)

Newton, Charles R.

2012-01-01

In "Global Perspective on Early Diagnosis and Intervention for Children with Developmental Delays and Disabilities" (p1079-1084, this issue), Scherzer et al. highlighted the potential increase in neurodevelopmental impairments and disabilities affecting an increasing number of children in low- and middle-income countries (LMIC). In this…

The Ages and Stages Questionnaire and Neurodevelopmental Impairment in Two-Year-Old Preterm-Born Children.

Directory of Open Access Journals (Sweden)

Jorien M Kerstjens

Full Text Available To test the ability of the Ages and Stages Questionnaire, Third Edition (ASQ3 to help identify or exclude neurodevelopmental impairment (NDI in very preterm-born children at the corrected age of two.We studied the test results of 224 children, born at <32 postmenstrual weeks, who had scores on ASQ3 and Bayley Scales of Infant and Toddler Development, Third Edition (BSIDIII and neurological examination at 22-26 months' corrected age. We defined NDI as a score of <70 on the cognitive--or motor composite scale of BSIDIII, or impairment on neurological examination or audiovisual screening. We compared NDI with abnormal ASQ3 scores, i.e., < -2SDs on any domain, and with ASQ3 total scores. To correct for possible overestimation of BSIDIII, we also analyzed the adjusted BSIDIII thresholds for NDI, i.e., scores <80 and <85.We found 61 (27% children with abnormal ASQ3 scores, and 10 (4.5% children who had NDI with original BSIDIII thresholds (<70. Twelve children had NDI at BSIDIII thresholds at <80, and 15 had <85. None of the 163 (73% children who passed ASQ3 had NDI. The sensitivity of ASQ3 to detect NDI was excellent (100%, its specificity was acceptable (76%, and its negative predictive value (NPV was 100%. Sensitivity and NPV remained high with the adjusted BSIDIII thresholds.The Ages and Stages Questionnaire is a simple, valid and cost-effective screening tool to help identify and exclude NDI in very preterm-born children at the corrected age of two years.

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 ge......, FMR1, has been the focus of intense research. Key alterations in synaptic function thought to underlie this neurodevelopmental disorder have been characterized and rescued in animal models of FXS using genetic and pharmacological approaches. These robust preclinical findings have led...... to the implementation of the most comprehensive drug development programme undertaken thus far for a genetically defined neurodevelopmental disorder, including phase IIb trials of metabotropic glutamate receptor 5 (mGluR5) antagonists and a phase III trial of a GABAB receptor agonist. However, none of the trials has...... been able to unambiguously demonstrate efficacy, and they have also highlighted the extent of the knowledge gaps in drug development for FXS and other neurodevelopmental disorders. In this Review, we examine potential issues in the previous studies and future directions for preclinical and clinical...

Comparing Sociodemographic Factors Associated with Disability between Immigrants and the Chilean-Born: Are There Different Stories to Tell?

Science.gov (United States)

Cabieses, Baltica; Pickett, Kate E.; Tunstall, Helena

2012-01-01

This study explored a range of sociodemographic factors associated with disability among international immigrants in Chile, and compared them to the Chilean-born. Secondary data analysis of the Chilean population-based survey CASEN-2006 was conducted (268,873 participants). Main health outcomes: any disability and six different types of disability: visual, hearing, learning, physical, psychiatric and speaking (binary outcomes). Sociodemographic variables: Demographic factors (age, sex, marital status, urban/rural, ethnicity), socioeconomic status (SES: income, education, employment status, and an integrated indicator combining the SES measures through cluster analysis for the immigrant population), material factors (overcrowding, sanitation, housing quality) and migration related (country of origin and length of stay). Immigrants reported a significantly lower prevalence of any disability (3.55%), visual (1.00%) and physical disability (0.38%). Factors associated with any disability among immigrants were age, low SES or over 20 years duration of residence in Chile; while a range of sociodemographic factors were associated with disability in the Chilean-born. Conditional regression models by age group varied between populations, but SES remained significantly associated with disability across immigrants and the Chilean-born. However, there are no similar patterns of factors associated to different types of disability between the populations under study. Factors associated with disability varied between populations under study, but SES showed a consistent association with any disability in immigrants and the Chilean-born. Types of disability showed different patterns of factors associated to them between populations, which suggest the great complexity of underlying mechanisms related to disability in Chile. PMID:23211607

Comparing sociodemographic factors associated with disability between immigrants and the Chilean-born: are there different stories to tell?

Science.gov (United States)

Cabieses, Baltica; Pickett, Kate E; Tunstall, Helena

2012-12-04

This study explored a range of sociodemographic factors associated with disability among international immigrants in Chile, and compared them to the Chilean-born. Secondary data analysis of the Chilean population-based survey CASEN-2006 was conducted (268,873 participants). Main health outcomes: any disability and six different types of disability: visual, hearing, learning, physical, psychiatric and speaking (binary outcomes). Sociodemographic variables: Demographic factors (age, sex, marital status, urban/rural, ethnicity), socioeconomic status (SES: income, education, employment status, and an integrated indicator combining the SES measures through cluster analysis for the immigrant population), material factors (overcrowding, sanitation, housing quality) and migration related (country of origin and length of stay). Immigrants reported a significantly lower prevalence of any disability (3.55%), visual (1.00%) and physical disability (0.38%). Factors associated with any disability among immigrants were age, low SES or over 20 years duration of residence in Chile; while a range of sociodemographic factors were associated with disability in the Chilean-born. Conditional regression models by age group varied between populations, but SES remained significantly associated with disability across immigrants and the Chilean-born. However, there are no similar patterns of factors associated to different types of disability between the populations under study. Factors associated with disability varied between populations under study, but SES showed a consistent association with any disability in immigrants and the Chilean-born. Types of disability showed different patterns of factors associated to them between populations, which suggest the great complexity of underlying mechanisms related to disability in Chile.

Comparing Sociodemographic Factors Associated with Disability Between Immigrants and the Chilean-Born: Are There Different Stories to Tell?

Directory of Open Access Journals (Sweden)

Baltica Cabieses

2012-12-01

Full Text Available This study explored a range of sociodemographic factors associated with disability among international immigrants in Chile, and compared them to the Chilean-born. Secondary data analysis of the Chilean population-based survey CASEN-2006 was conducted (268,873 participants. Main health outcomes: any disability and six different types of disability: visual, hearing, learning, physical, psychiatric and speaking (binary outcomes. Sociodemographic variables: Demographic factors (age, sex, marital status, urban/rural, ethnicity, socioeconomic status (SES: income, education, employment status, and an integrated indicator combining the SES measures through cluster analysis for the immigrant population, material factors (overcrowding, sanitation, housing quality and migration related (country of origin and length of stay. Immigrants reported a significantly lower prevalence of any disability (3.55%, visual (1.00% and physical disability (0.38%. Factors associated with any disability among immigrants were age, low SES or over 20 years duration of residence in Chile; while a range of sociodemographic factors were associated with disability in the Chilean-born. Conditional regression models by age group varied between populations, but SES remained significantly associated with disability across immigrants and the Chilean-born. However, there are no similar patterns of factors associated to different types of disability between the populations under study. Factors associated with disability varied between populations under study, but SES showed a consistent association with any disability in immigrants and the Chilean-born. Types of disability showed different patterns of factors associated to them between populations, which suggest the great complexity of underlying mechanisms related to disability in Chile.

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

Children with optic nerve hypoplasia face a high risk of neurodevelopmental disorders.

Science.gov (United States)

Dahl, Sara; Wickström, Ronny; Ek, Ulla; Teär Fahnehjelm, Kristina

2018-03-01

Optic nerve hypoplasia (ONH) is a congenital ocular malformation that has been associated with neurodevelopmental disorders, but the prevalence in unilateral disease and less severe visual impairment is unknown. We studied intellectual disability and autism spectrum disorders (ASDs) in patients with ONH. This was a population-based cross-sectional cohort study of 65 patients (33 female) with ONH below 20 years of age, living in Stockholm in December 2009, with data analysed in January 2016. Of these 35 were bilateral and 30 were unilateral. Neurodevelopmental disorders were diagnosed or confirmed by neurological assessments, the Five to Fifteen parent questionnaire and reviewing previous neuropsychological investigations or conducting neuropsychological tests. Bilateral ONH patients had lower mean full scale intelligence quotient scores than unilateral patients (84.4 and 99.4, respectively, p = 0.049). We assessed intellectual disability in 55 eligible patients, and it was more common in patients with bilateral ONH (18 of 32, 56%) than unilateral ONH (two of 23, 9%, p neurodevelopmental disorders, especially intellectual disability. The risk was lower in unilateral ONH, but the levels of neurodevelopmental disorders warrant screening of both groups. ©2017 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

Cryptorchidism and increased risk of neurodevelopmental disorders.

Science.gov (United States)

Chen, Jianping; Sørensen, Henrik Toft; Miao, Maohua; Liang, Hong; Ehrenstein, Vera; Wang, Ziliang; Yuan, Wei; Li, Jiong

2018-01-01

Male congenital malformations as cryptorchidism may contribute to the development of neurodevelopmental disorders directly or via shared familial genetic and/or environmental factors, but the evidence is sparse. Using population-based health registries, we conducted a cohort study of all liveborn singleton boys in Denmark during 1979-2008. Boys with a diagnosis of cryptorchidism were categorized into the exposed cohort and the other boys into the unexposed comparison cohort. The outcomes were diagnoses of any neurodevelopmental disorders and their subtypes. We used Cox proportional hazards regression to compute hazard ratios (HRs), taking into consideration several potential confounders. Among 884,083 male infants, 27,505 received a diagnosis of cryptorchidism during follow-up. Boys with cryptorchidism were more likely to be diagnosed with intellectual disability (HR = 1.77; 95%confidence interval [CI]:1.59,1.97), autism spectrum disorders (ASD) (HR = 1.24; 95% CI:1.13,1.35), attention-deficit hyperactivity disorder (ADHD) (HR = 1.17; 95% CI: 1.08,1.26), anxiety (HR = 1.09; 95% CI: 1.01,1.17), and other behavioral/emotional disorders (HR = 1.16; 95% CI: 1.08,1.26) compared to boys without cryptorchidism. The observed risks of intellectual disability, ASD, and ADHD were increased further in boys with bilateral cryptorchidism. Except for anxiety, cryptorchid boys had higher risks of neurodevelopmental disorders than their non-cryptorchid full brothers. The observed increased risks were similar among boys who underwent orchiopexy, as well as among those with shorter waiting times for this surgery. Cryptorchidism may be associated with increased risks of intellectual disability, ASD, ADHD, and other behavioral/emotional disorders. Cryptorchidism and neurodevelopmental disorders may have shared genetic or in-utero/early postnatal risk factors, which need to be further investigated. Copyright © 2017. Published by Elsevier Ltd.

"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…

Disparity in disability between native-born non-Hispanic white and foreign-born Asian older adults in the United States: effects of educational attainment and age at immigration.

Science.gov (United States)

Lee, Min-Ah

2011-04-01

It is widely known that educational attainment has considerable influence on the prevalence of disability among native-born non-Hispanic older adults in the US. However, few studies have examined whether educational attainment has a similar effect on disability among foreign-born Asian older adults. If it does not have a similar effect on these adults, why not, and is its effect influenced by the age at which they immigrated to the US? This study addresses these questions by using the 2006 American Community Survey Public Use Microdata Sample (ACS PUMS). Logistic regression analyses reveal that education has differential effects on the two racial groups. Education protects foreign-born Asians less than native-born non-Hispanic whites. In addition, Asian adults who immigrated earlier are less likely to experience disability. Interestingly, the interaction between age at immigration and educational attainment for foreign-born Asian older adults indicates that less educated Asians are more likely to benefit from early immigration. Heterogeneity within the Asian group is also examined. The findings suggest that educational attainment has differential effects not only on the two racial groups but also on the foreign-born Asian group depending on age at immigration. Copyright © 2011 Elsevier Ltd. All rights reserved.

Difference in mother-child interaction between preterm- and term-born preschoolers with and without disabilities

NARCIS (Netherlands)

Potharst, Eva S.; Schuengel, Carlo; Last, Bob F.; van Wassenaer, Aleid G.; Kok, Joke H.; Houtzager, Bregje A.

2012-01-01

Aim: To investigate differences in the quality of motherchild interaction between preterm- and term-born children at age 5, and to study the association of motherchild interaction with sociodemographic characteristics and child disability. Methods: Preterm children (n = 94), born at <30 weeks

Risk of Psychiatric and Neurodevelopmental Disorders Among Siblings of Probands With Autism Spectrum Disorders.

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Jokiranta-Olkoniemi, Elina; Cheslack-Postava, Keely; Sucksdorff, Dan; Suominen, Auli; Gyllenberg, David; Chudal, Roshan; Leivonen, Susanna; Gissler, Mika; Brown, Alan S; Sourander, Andre

2016-06-01

Previous research has focused on examining the familial clustering of schizophrenia, bipolar disorder, and autism spectrum disorders (ASD). Little is known about the clustering of other psychiatric and neurodevelopmental disorders among siblings of persons with ASD. To examine the risk for psychiatric and neurodevelopmental disorders among full siblings of probands with ASD. The Finnish Prenatal Study of Autism and Autism Spectrum Disorders used a population-based cohort that included children born from January 1, 1987, to December 31, 2005, who received a diagnosis of ASD by December 31, 2007. Each case was individually matched to 4 control participants by sex and date and place of birth. The siblings of the cases and controls were born from January 1, 1977, to December 31, 2005, and received a diagnosis from January 1, 1987, to December 31, 2009. This nested case-control study included 3578 cases with ASD with 6022 full siblings and 11 775 controls with 22 127 siblings from Finnish national registers. Data were analyzed from March 6, 2014, to February 12, 2016. The adjusted risk ratio (RR) for psychiatric and neurodevelopmental disorders among siblings of probands with ASD vs siblings of matched controls. Additional analyses were conducted separately for ASD subgroups, including childhood autism, Asperger syndrome, and pervasive developmental disorders not otherwise specified. Analyses were further stratified by sex and intellectual disability among the probands. Among the 3578 cases with ASD (2841 boys [79.4%]) and 11 775 controls (9345 boys [79.4%]), 1319 cases (36.9%) and 2052 controls (17.4%) had at least 1 sibling diagnosed with any psychiatric or neurodevelopmental disorder (adjusted RR, 2.5; 95% CI, 2.3-2.6). The largest associations were observed for childhood-onset disorders (1061 cases [29.7%] vs 1362 controls [11.6%]; adjusted RR, 3.0; 95% CI, 2.8-3.3), including ASD (374 cases [10.5%] vs 125 controls [1.1%]; adjusted RR, 11.8; 95% CI, 9

Difference in mother–child interaction between preterm- and term-born preschoolers with and without disabilities

NARCIS (Netherlands)

Potharst, E.S.; Schuengel, C.; Last, B.F.; van Wassenaer, A.G.; Kok, J.H.; Houtzager, B.A.

2012-01-01

Aim: To investigate differences in the quality of mother-child interaction between preterm- and term-born children at age 5, and to study the association of mother-child interaction with sociodemographic characteristics and child disability. Methods: Preterm children (n = 94), born at <30 weeks'

Role of nucleosome remodeling in neurodevelopmental and intellectual disability disorders.

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López, Alberto J; Wood, Marcelo A

2015-01-01

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 (ID) 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 (CSS), Nicolaides-Baraitser syndrome (NBS), schizophrenia, and Autism Spectrum Disorder (ASD). Together, these human developmental and ID 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 ID disorders and whether nucleosome remodeling affects gene expression required for cognition independently of its role in regulating gene expression required for development.

Newly postulated neurodevelopmental risks of pediatric anesthesia.

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Hays, Stephen R; Deshpande, Jayant K

2011-04-01

Recent animal and human studies have raised concern that exposure to anesthetic agents in children may cause neuronal damage and be associated with adverse neurodevelopmental outcomes. Exposure of young animals to anesthetic agents above threshold doses and durations during a critical neurodevelopmental window in the absence of concomitant painful stimuli causes widespread neuronal apoptosis and subsequent abnormal behaviors. The relevance of such animal data to humans is unknown. Untreated neonatal pain and stress also are associated with enhanced neuronal death and subsequent maladaptive behaviors, which can be prevented by exposure to these same anesthetic agents. Retrospective observational human studies have suggested a dose-dependent association between multiple anesthetic exposures in early childhood and subsequent learning disability, the causality of which is unknown. Ongoing prospective investigations are underway, the results of which may clarify if and what neurodevelopmental risks are associated with pediatric anesthesia. No change in current practice is yet indicated.

Paternal Aging Affects Behavior in Pax6 Mutant Mice: A Gene/Environment Interaction in Understanding Neurodevelopmental Disorders.

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Yoshizaki, Kaichi; Furuse, Tamio; Kimura, Ryuichi; Tucci, Valter; Kaneda, Hideki; Wakana, Shigeharu; Osumi, Noriko

2016-01-01

Neurodevelopmental disorders such as autism spectrum disorder (ASD) and attention deficit and hyperactivity disorder (ADHD) have increased over the last few decades. These neurodevelopmental disorders are characterized by a complex etiology, which involves multiple genes and gene-environmental interactions. Various genes that control specific properties of neural development exert pivotal roles in the occurrence and severity of phenotypes associated with neurodevelopmental disorders. Moreover, paternal aging has been reported as one of the factors that contribute to the risk of ASD and ADHD. Here we report, for the first time, that paternal aging has profound effects on the onset of behavioral abnormalities in mice carrying a mutation of Pax6, a gene with neurodevelopmental regulatory functions. We adopted an in vitro fertilization approach to restrict the influence of additional factors. Comprehensive behavioral analyses were performed in Sey/+ mice (i.e., Pax6 mutant heterozygotes) born from in vitro fertilization of sperm taken from young or aged Sey/+ fathers. No body weight changes were found in the four groups, i.e., Sey/+ and wild type (WT) mice born to young or aged father. However, we found important differences in maternal separation-induced ultrasonic vocalizations of Sey/+ mice born from young father and in the level of hyperactivity of Sey/+ mice born from aged fathers in the open-field test, respectively, compared to WT littermates. Phenotypes of anxiety were observed in both genotypes born from aged fathers compared with those born from young fathers. No significant difference was found in social behavior and sensorimotor gating among the four groups. These results indicate that mice with a single genetic risk factor can develop different phenotypes depending on the paternal age. Our study advocates for serious considerations on the role of paternal aging in breeding strategies for animal studies.

Paternal Aging Affects Behavior in Pax6 Mutant Mice: A Gene/Environment Interaction in Understanding Neurodevelopmental Disorders.

Directory of Open Access Journals (Sweden)

Kaichi Yoshizaki

Full Text Available Neurodevelopmental disorders such as autism spectrum disorder (ASD and attention deficit and hyperactivity disorder (ADHD have increased over the last few decades. These neurodevelopmental disorders are characterized by a complex etiology, which involves multiple genes and gene-environmental interactions. Various genes that control specific properties of neural development exert pivotal roles in the occurrence and severity of phenotypes associated with neurodevelopmental disorders. Moreover, paternal aging has been reported as one of the factors that contribute to the risk of ASD and ADHD. Here we report, for the first time, that paternal aging has profound effects on the onset of behavioral abnormalities in mice carrying a mutation of Pax6, a gene with neurodevelopmental regulatory functions. We adopted an in vitro fertilization approach to restrict the influence of additional factors. Comprehensive behavioral analyses were performed in Sey/+ mice (i.e., Pax6 mutant heterozygotes born from in vitro fertilization of sperm taken from young or aged Sey/+ fathers. No body weight changes were found in the four groups, i.e., Sey/+ and wild type (WT mice born to young or aged father. However, we found important differences in maternal separation-induced ultrasonic vocalizations of Sey/+ mice born from young father and in the level of hyperactivity of Sey/+ mice born from aged fathers in the open-field test, respectively, compared to WT littermates. Phenotypes of anxiety were observed in both genotypes born from aged fathers compared with those born from young fathers. No significant difference was found in social behavior and sensorimotor gating among the four groups. These results indicate that mice with a single genetic risk factor can develop different phenotypes depending on the paternal age. Our study advocates for serious considerations on the role of paternal aging in breeding strategies for animal studies.

Neuraxial labor analgesia for vaginal delivery and its effects on childhood learning disabilities.

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Flick, Randall P; Lee, Kunmoo; Hofer, Ryan E; Beinborn, Charles W; Hambel, Ellen M; Klein, Melissa K; Gunn, Paul W; Wilder, Robert T; Katusic, Slavica K; Schroeder, Darrell R; Warner, David O; Sprung, Juraj

2011-06-01

In prior work, children born to mothers who received neuraxial anesthesia for cesarean delivery had a lower incidence of subsequent learning disabilities compared with vaginal delivery. The authors speculated that neuraxial anesthesia may reduce stress responses to delivery, which could affect subsequent neurodevelopmental outcomes. To further explore this possibility, we examined the association between the use of neuraxial labor analgesia and development of childhood learning disabilities in a population-based birth cohort of children delivered vaginally. The educational and medical records of all children born to mothers residing in the area of 5 townships of Olmsted County, Minnesota from 1976 to 1982 and remaining in the community at age 5 years were reviewed to identify those with learning disabilities. Cox proportional hazards regression was used to compare the incidence of learning disabilities between children delivered vaginally with and without neuraxial labor analgesia, including analyses adjusted for factors of either potential clinical relevance or that differed between the 2 groups in univariate analysis. Of the study cohort, 4684 mothers delivered children vaginally, with 1495 receiving neuraxial labor analgesia. The presence of childhood learning disabilities in the cohort was not associated with use of labor neuraxial analgesia (adjusted hazard ratio, 1.05; 95%confidence interval, 0.85-1.31; P = 0.63). The use of neuraxial analgesia during labor and vaginal delivery was not independently associated with learning disabilities diagnosed before age 19 years. Future studies are needed to evaluate potential mechanisms of the previous finding indicating that the incidence of learning disabilities is lower in children born to mothers via cesarean delivery under neuraxial anesthesia compared with vaginal delivery.

[Treatment of sensory information in neurodevelopmental disorders].

Science.gov (United States)

Zoenen, D; Delvenne, V

2018-01-01

The processing of information coming from the elementary sensory systems conditions the development and fulfilment of a child's abilities. A dysfunction in the sensory stimuli processing may generate behavioural patterns that might affect a child's learning capacities as well as his relational sphere. The DSM-5 recognizes the sensory abnormalities as part of the symptomatology of Autism Spectrum Disorders. However, similar features are observed in other neurodevelopmental disorders. Over the years, these conditions have been the subject of numerous controversies. Nowadays, they are all grouped together under the term of Neurodevelopmental Disorders in DSM-5. The semiology of these disorders is rich and complex due to the frequent presence of comorbidities and their impact on cognitive, behavioural, and sensorimotor organization but also on a child's personality, as well as his family, his school, or his social relationships. We carried out a review of the literature on the alterations in the treatment of sensory information in ASD but also on the different neurodevelopmental clinical panels in order to show their impact on child development. Atypical sensory profiles have been demonstrated in several neurodevelopmental clinical populations such as Autism Spectrum Disorder, Attention Deficit/Hyperactivity Disorders, Dysphasia and Intellectual Disability. Abnomalies in the processing of sensory information should be systematically evaluated in child developmental disorders.

Emphasizing the Health Benefits of Vitamin D for Those with Neurodevelopmental Disorders and Intellectual Disabilities

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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.

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

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.

Associations of caesarean delivery and the occurrence of neurodevelopmental disorders, asthma or obesity in childhood based on Taiwan birth cohort study.

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Chen, Ginden; Chiang, Wan-Lin; Shu, Bih-Ching; Guo, Yue Leon; Chiou, Shu-Ti; Chiang, Tung-Liang

2017-09-27

Whether birth by caesarean section (CS) increases the occurrence of neurodevelopmental disorders, asthma or obesity in childhood is controversial. We tried to demonstrate the association between children born by CS and the occurrence of the above three diseases at the age of 5.5 years. The database of the Taiwan Birth Cohort Study which was designed to assess the developmental trajectories of 24 200 children born in 2005 was used in this study. Associations between children born by CS and these three diseases were evaluated before and after controlling for gestational age (GA) at birth, children's characteristics and disease-related predisposing factors. Children born by CS had significant increases in neurodevelopmental disorders (20%), asthma (14%) and obesity (18%) compared with children born by vaginal delivery. The association between neurodevelopmental disorders and CS was attenuated after controlling for GA at birth (OR 1.15; 95% CI 0.98 to 1.34). Occurrence of neurodevelopmental disorders steadily declined with increasing GA up to ≤40-42 weeks. CS and childhood asthma were not significantly associated after controlling for parental history of asthma and GA at birth. Obesity in childhood remained significantly associated with CS (OR 1.13; 95% CI 1.04 to 1.24) after controlling for GA and disease-related factors. Our results implied that the association between CS birth and children's neurodevelopmental disorders was significantly influenced by GA. CS birth was weakly associated with childhood asthma since parental asthma and preterm births are stronger predisposing factors. The association between CS birth and childhood obesity was robust after controlling for disease-related factors. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

An Interview Study of Young Adults Born to Mothers with Mild Intellectual Disability

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Lindblad, Ida; Billstedt, Eva; Gillberg, Christopher; Fernell, Elisabeth

2013-01-01

A group of 10 young adults from a population-based series in Sweden, of originally 42 individuals, born to mothers with mild intellectual disability (ID), were interviewed with regard to their experiences during childhood, adolescence, and their current situation. The interview revealed that 6 of the 10 individuals had been removed from their…

Comparing Sociodemographic Factors Associated with Disability Between Immigrants and the Chilean-Born: Are There Different Stories to Tell?

OpenAIRE

Cabieses, Baltica; Pickett, Kate; Tunstall, Helena

2012-01-01

This study explored a range of sociodemographic factors associated with disability among international immigrants in Chile, and compared them to the Chilean-born. Secondary data analysis of the Chilean population-based survey CASEN-2006 was conducted (268,873 participants). Main health outcomes: any disability and six different types of disability: visual, hearing, learning, physical, psychiatric and speaking (binary outcomes). Sociodemographic variables: Demographic factors (age, sex, marita...

Mental Health Outcomes in US Children and Adolescents Born Prematurely or with Low Birthweight

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Gopal K. Singh

2013-01-01

Full Text Available We examined the effects of prematurity (37 weeks of gestation and low birthweight (2500 g on mental health outcomes among US children aged 2–17 years. The 2011-2012 National Survey of Children’s Health ( = 95,677 was used to estimate prevalence of parent-reported mental health problems in children. Prevalence of mental disorders was 22.9% among children born prematurely, 28.7% among very-low-birth-weight (1500 g children, and 18.9% among moderately low-birth-weight (1500–2499 g children, compared with 15.5% in the general child population. Compared to those born full term, children born prematurely had 61% higher adjusted odds of serious emotional/behavioral problems, 33% higher odds of depression, and 58% higher odds of anxiety. Children born prematurely had 2.3 times higher odds of autism/ASD, 2.9 times higher odds of development delay, and 2.7 times higher odds of intellectual disability than term children. Very-low-birth-weight children had 3.2 times higher odds of autism/ASD, 1.7 times higher odds of ADD/ADHD, 5.4 times higher odds of development delay, and 4.4 times higher odds of intellectual disability than normal-birth-weight children. Social factors were significant predictors of mental disorders in both premature/low-birth-weight and term/normal-birth-weight children. Neurodevelopmental conditions accounted for the relationship between prematurity and depression/anxiety/conduct problems. Prematurity and low birthweight are significant risk factors for mental health problems among children.

A register study of life events in young adults born to mothers with mild intellectual disability.

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Lindblad, Ida; Billstedt, Eva; Gillberg, Christopher; Fernell, Elisabeth

2014-12-01

Young adults, born to population-representative mothers with intellectual disability (ID), were targeted for psychosocial/life event follow-up. The whole group originally comprised 42 individuals but 3 had died and 1 had moved abroad. The remaining 38 were approached and 10 consented to participate in an interview study. However, of the remaining 28, it was not possible to establish contact with 21 who were instead searched for in various official registers. Most (n = 18) individuals in the study group had been in contact with different authorities and clinics. Of the 21 individuals, 10 had contact with social services since childhood and 4 of these had been taken into care (foster family) and 6 had had contact families during childhood. One individual had been taken into a treatment centre and one grew up mainly with the father. Altogether 12 (57%) of 21 individuals did not grow up full-time with their biological mother. Twelve (57%) had major neurodevelopmental/neuropsychiatric conditions, including five with ID and seven with attention-deficit hyperactivity disorder (ADHD). Four individuals were registered within the Prison and Probation Service due to various types of crimes. Individuals born to mothers with ID in our study group were at high risk of adverse experiences and negative outcomes, such as increased childhood mortality, a relatively large proportion of children taken into care, high rates of ID and ADHD in the children and of criminality in young adulthood. Taken together with the results obtained in an in-depth interview study of those in the originally targeted sample with whom it was possible to obtain contact, the present findings suggest that it will be important to provide early support and longitudinal developmental follow-up in groups of children growing up with a mother with ID. Children in this situation appear to be at a number of risks, probably related both to hereditary factors and to social disadvantage. © The Author(s) 2014.

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

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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…

Long-Term Neurodevelopmental Outcomes of Premature Infants in Singapore.

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Teo, Charmaine M; Poon, Woei Bing; Ho, Selina Ky

2018-02-01

Neonatal care advances have resulted in improved survival but have raised concerns of increase in neurodevelopmental impairment. This study looked at long-term neurodevelopmental outcomes at ages 5 and 8 years of very low birthweight infants born in the 2000s as compared to the 1990s. Neurodevelopmental assessment at 2 years old was compared to that at 5 and 8 years to determine if assessment at 2 years was predictive of later outcomes. A retrospective cohort study of consecutive infants with birthweight less than 1250 grams admitted to a tertiary centre in Singapore between January 1994 to December 1995 (Epoch I) and January 2004 to December 2005 (Epoch II) were included. Neurodevelopmental impairment was defined as having intelligence quotient (IQ) of less than 70, cerebral palsy, legal blindness, or hearing impairment requiring hearing aids. Mean gestational age was lower for Epoch II compared to Epoch I (28.1 ± 2.5 vs 29.4 ± 2.7 weeks, P = 0.004). Death or neurodevelopmental impairment rates did not differ (24.3% and 17.1% at 5 years old, P = 0.398; 29.1% and 25.0% at 8 years old, P = 0.709). There was improvement in visual impairment rate at 8 years in Epoch II (10.7% vs 34.0%, P = 0.024). Mean IQ was better in Epoch II (109 and 107 vs 97 and 99 at 5 [ P = 0.001] and 8 years [ P = 0.047], respectively). All infants with no neurodevelopmental impairment at 2 years remained without impairment later on. Over a decade, neurodevelopmental outcomes did not worsen despite lower mean gestational age. Long- term improvement in IQ scores and a reduction in visual impairment rates were seen. Our data suggests that children without neurodevelopmental impairment at 2 years are without impairment later on; therefore, they may need only developmental monitoring with targeted assessments instead of routine formal IQ assessments.

Family functioning, burden and parenting stress 2 years after very preterm birth.

Science.gov (United States)

Treyvaud, Karli; Doyle, Lex W; Lee, Katherine J; Roberts, Gehan; Cheong, Jeanie L Y; Inder, Terrie E; Anderson, Peter J

2011-06-01

Examining rates of difficulties in family functioning following very preterm birth has been a relatively neglected area of research. To examine family functioning, burden and parenting stress in families with very preterm compared with term born children, and investigate influences of parental mental health problems and child neurodevelopmental disability on family outcomes in families with preterm children. Participants were 184 very preterm and 71 term children and their parents. Parents completed the Family Assessment Device, Parenting Stress Index and Impact on Family questionnaires when their children were 2 years old (corrected for prematurity). Parental mental health and social risk information were also collected. Children were assessed for neurodevelopmental disability. Families with very preterm children reported poorer family functioning (p=.03) compared with families with term born children, with less evidence for differences between families with very preterm and term born children in parenting stress and family burden. Within very preterm families, parental mental health problems were associated with higher levels of parenting stress (p=.001), and parents of children with a neurodevelopmental disability were more likely to report higher family burden (p=.04). For families with very preterm children, parental mental health symptoms and child neurodevelopmental disability may identify families at risk of greater stress and burden who may benefit from additional support. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

Systems genetics identifies a convergent gene network for cognition and neurodevelopmental disease.

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Johnson, Michael R; Shkura, Kirill; Langley, Sarah R; Delahaye-Duriez, Andree; Srivastava, Prashant; Hill, W David; Rackham, Owen J L; Davies, Gail; Harris, Sarah E; Moreno-Moral, Aida; Rotival, Maxime; Speed, Doug; Petrovski, Slavé; Katz, Anaïs; Hayward, Caroline; Porteous, David J; Smith, Blair H; Padmanabhan, Sandosh; Hocking, Lynne J; Starr, John M; Liewald, David C; Visconti, Alessia; Falchi, Mario; Bottolo, Leonardo; Rossetti, Tiziana; Danis, Bénédicte; Mazzuferi, Manuela; Foerch, Patrik; Grote, Alexander; Helmstaedter, Christoph; Becker, Albert J; Kaminski, Rafal M; Deary, Ian J; Petretto, Enrico

2016-02-01

Genetic determinants of cognition are poorly characterized, and their relationship to genes that confer risk for neurodevelopmental disease is unclear. Here we performed a systems-level analysis of genome-wide gene expression data to infer gene-regulatory networks conserved across species and brain regions. Two of these networks, M1 and M3, showed replicable enrichment for common genetic variants underlying healthy human cognitive abilities, including memory. Using exome sequence data from 6,871 trios, we found that M3 genes were also enriched for mutations ascertained from patients with neurodevelopmental disease generally, and intellectual disability and epileptic encephalopathy in particular. M3 consists of 150 genes whose expression is tightly developmentally regulated, but which are collectively poorly annotated for known functional pathways. These results illustrate how systems-level analyses can reveal previously unappreciated relationships between neurodevelopmental disease-associated genes in the developed human brain, and provide empirical support for a convergent gene-regulatory network influencing cognition and neurodevelopmental disease.

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.

Neurogenetic and Neurodevelopmental Pathways to Learning Disabilities.

Science.gov (United States)

Mazzocco, Michele M. M.; And Others

1997-01-01

This paper reviews ongoing research designed to specify the cognitive, behavioral, and neuroanatomical phenotypes of specific genetic etiologies of learning disability. The genetic disorders at the focus of the research include reading disability, neurofibromatosis type 1, Tourette syndrome, and fragile X syndrome. Implications for identifying…

Term-equivalent functional brain maturational measures predict neurodevelopmental outcomes in premature infants.

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El Ters, Nathalie M; Vesoulis, Zachary A; Liao, Steve M; Smyser, Christopher D; Mathur, Amit M

2018-04-01

Term equivalent age (TEA) brain MRI identifies preterm infants at risk for adverse neurodevelopmental outcomes. But some infants may experience neurodevelopmental impairments even in the absence of neuroimaging abnormalities. Evaluate the association of TEA amplitude-integrated EEG (aEEG) measures with neurodevelopmental outcomes at 24-36 months corrected age. We performed aEEG recordings and brain MRI at TEA (mean post-menstrual age of 39 (±2) weeks in a cohort of 60 preterm infants born at a mean gestational age of 26 (±2) weeks. Forty-four infants underwent Bayley Scales of Infant Development, 3rd Edition (BSID-III) testing at 24-36 months corrected age. Developmental delay was defined by a score greater than one standard deviation below the mean (neurodevelopmental outcomes was assessed using odds ratio, then adjusted for confounding variables using logistic regression. Infants with developmental delay in any domain had significantly lower values of SEF 90 . Absent cyclicity was more prevalent in infants with cognitive and motor delay. Both left and right SEF 90  neurodevelopmental outcomes. Therefore, a larger study is needed to validate these results in premature infants at low and high risk of brain injury. Copyright © 2018. Published by Elsevier B.V.

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

Language and communication skills are essential aspects of child development, which are often disrupted in children with neurodevelopmental disorders. Cutting edge research in psycholinguistics suggests that multilingualism has potential to influence social, linguistic and cognitive development. Thus, multilingualism has implications for clinical assessment, diagnostic formulation, intervention and support offered to families. We present a systematic review and synthesis of the effects of multilingualism for children with neurodevelopmental disorders and discuss clinical implications. We conducted systematic searches for studies on multilingualism in neurodevelopmental disorders. Keywords for neurodevelopmental disorders were based on Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition categories as follows; Intellectual Disabilities, Communication Disorders, Autism Spectrum Disorder (ASD), Attention-Deficit/Hyperactivity Disorder, Specific Learning Disorder, Motor Disorders, Other Neurodevelopmental Disorders. We included only studies based on empirical research and published in peer-reviewed journals. Fifty studies met inclusion criteria. Thirty-eight studies explored multilingualism in Communication Disorders, 10 in ASD and two in Intellectual Disability. No studies on multilingualism in Specific Learning Disorder or Motor Disorders were identified. Studies which found a disadvantage for multilingual children with neurodevelopmental disorders were rare, and there appears little reason to assume that multilingualism has negative effects on various aspects of functioning across a range of conditions. In fact, when considering only those studies which have compared a multilingual group with developmental disorders to a monolingual group with similar disorders, the findings consistently show no adverse effects on language development or other aspects of functioning. In the case of ASD, a positive effect on communication and social functioning has

Neurodevelopmental outcomes of triplets or higher-order extremely low birth weight infants.

Science.gov (United States)

Wadhawan, Rajan; Oh, William; Vohr, Betty R; Wrage, Lisa; Das, Abhik; Bell, Edward F; Laptook, Abbot R; Shankaran, Seetha; Stoll, Barbara J; Walsh, Michele C; Higgins, Rosemary D

2011-03-01

Extremely low birth weight twins have a higher rate of death or neurodevelopmental impairment than singletons. Higher-order extremely low birth weight multiple births may have an even higher rate of death or neurodevelopmental impairment. Extremely low birth weight (birth weight 401-1000 g) multiple births born in participating centers of the Neonatal Research Network between 1996 and 2005 were assessed for death or neurodevelopmental impairment at 18 to 22 months' corrected age. Neurodevelopmental impairment was defined by the presence of 1 or more of the following: moderate to severe cerebral palsy; mental developmental index score or psychomotor developmental index score less than 70; severe bilateral deafness; or blindness. Infants who died within 12 hours of birth were excluded. Maternal and infant demographic and clinical variables were compared among singleton, twin, and triplet or higher-order infants. Logistic regression analysis was performed to establish the association between singletons, twins, and triplet or higher-order multiples and death or neurodevelopmental impairment, controlling for confounding variables that may affect death or neurodevelopmental impairment. Our cohort consisted of 8296 singleton, 2164 twin, and 521 triplet or higher-order infants. The risk of death or neurodevelopmental impairment was increased in triplets or higher-order multiples when compared with singletons (adjusted odds ratio: 1.7 [95% confidence interval: 1.29-2.24]), and there was a trend toward an increased risk when compared with twins (adjusted odds ratio: 1.27 [95% confidence: 0.95-1.71]). Triplet or higher-order births are associated with an increased risk of death or neurodevelopmental impairment at 18 to 22 months' corrected age when compared with extremely low birth weight singleton infants, and there was a trend toward an increased risk when compared with twins.

Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders.

Science.gov (United States)

Ho, Karen S; Twede, Hope; Vanzo, Rena; Harward, Erin; Hensel, Charles H; Martin, Megan M; Page, Stephanie; Peiffer, Andreas; Mowery-Rushton, Patricia; Serrano, Moises; Wassman, E Robert

2016-01-01

Copy number variants (CNVs) as detected by chromosomal microarray analysis (CMA) significantly contribute to the etiology of neurodevelopmental disorders, such as developmental delay (DD), intellectual disability (ID), and autism spectrum disorder (ASD). This study summarizes the results of 3.5 years of CMA testing by a CLIA-certified clinical testing laboratory 5487 patients with neurodevelopmental conditions were clinically evaluated for rare copy number variants using a 2.8-million probe custom CMA optimized for the detection of CNVs associated with neurodevelopmental disorders. We report an overall detection rate of 29.4% in our neurodevelopmental cohort, which rises to nearly 33% when cases with DD/ID and/or MCA only are considered. The detection rate for the ASD cohort is also significant, at 25%. Additionally, we find that detection rate and pathogenic yield of CMA vary significantly depending on the primary indications for testing, the age of the individuals tested, and the specialty of the ordering doctor. We also report a significant difference between the detection rate on the ultrahigh resolution optimized array in comparison to the array from which it originated. This increase in detection can significantly contribute to the efficient and effective medical management of neurodevelopmental conditions in the clinic.

Two-year neurodevelopmental outcomes of extremely preterm infants treated with early hydrocortisone: treatment effect according to gestational age at birth.

Science.gov (United States)

Baud, Olivier; Trousson, Clémence; Biran, Valérie; Leroy, Emilie; Mohamed, Damir; Alberti, Corinne

2018-01-10

To determine whether early hydrocortisone treatment in extremely preterm infants affects neurodevelopmental outcomes at 2 years of age according to gestational age at birth. This is an exploratory analysis of neurodevelopmental outcomes by gestational age strata from the PREMILOC trial, in which patients were randomly assigned to receive either placebo or low-dose hydrocortisone and randomisation was stratified by gestational age groups (24-25 and 26-27 weeks of gestation). Neurodevelopmental impairment (NDI) was assessed using a standardised neurological examination and the revised Brunet-Lézine scale at 22 months of corrected age. A total of 379 of 406 survivors were evaluated, 96/98 in the gestational age group of 24-25 weeks and 283/308 in the gestational age group of 26-27 weeks. Among surviving infants born at 24-25 weeks, significant improvement in global neurological assessment was observed in the hydrocortisone group compared with the placebo group (P=0.02) with a risk of moderate-to-severe NDI of 2% and 18%, respectively (risk difference 16 (95% CI -28% to -5%)). In contrast, no statistically significant difference between treatment groups was observed in infants born at 26-27 weeks (P=0.95) with a similar risk of moderate-to-severe NDI of 9% in both groups. The incidence of cerebral palsy or other major neurological impairments were found similar between treatment groups in each gestational group. In an exploratory analysis of neurodevelopmental outcomes from the PREMILOC trial, early low-dose hydrocortisone was associated with a statistically significant improvement in neurodevelopmental outcomes in infants born at 24 and 25 weeks of gestation. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Touchscreen learning deficits in Ube3a, Ts65Dn and Mecp2 mouse models of neurodevelopmental disorders with intellectual disabilities.

Science.gov (United States)

Leach, P T; Crawley, J N

2017-12-20

Mutant mouse models of neurodevelopmental disorders with intellectual disabilities provide useful translational research tools, especially in cases where robust cognitive deficits are reproducibly detected. However, motor, sensory and/or health issues consequent to the mutation may introduce artifacts that preclude testing in some standard cognitive assays. Touchscreen learning and memory tasks in small operant chambers have the potential to circumvent these confounds. Here we use touchscreen visual discrimination learning to evaluate performance in the maternally derived Ube3a mouse model of Angelman syndrome, the Ts65Dn trisomy mouse model of Down syndrome, and the Mecp2 Bird mouse model of Rett syndrome. Significant deficits in acquisition of a 2-choice visual discrimination task were detected in both Ube3a and Ts65Dn mice. Procedural control measures showed no genotype differences during pretraining phases or during acquisition. Mecp2 males did not survive long enough for touchscreen training, consistent with previous reports. Most Mecp2 females failed on pretraining criteria. Significant impairments on Morris water maze spatial learning were detected in both Ube3a and Ts65Dn, replicating previous findings. Abnormalities on rotarod in Ube3a, and on open field in Ts65Dn, replicating previous findings, may have contributed to the observed acquisition deficits and swim speed abnormalities during water maze performance. In contrast, these motor phenotypes do not appear to have affected touchscreen procedural abilities during pretraining or visual discrimination training. Our findings of slower touchscreen learning in 2 mouse models of neurodevelopmental disorders with intellectual disabilities indicate that operant tasks offer promising outcome measures for the preclinical discovery of effective pharmacological therapeutics. © 2017 John Wiley & Sons Ltd and International Behavioural and Neural Genetics Society.

Long-term neurodevelopmental outcomes of congenital diaphragmatic hernia survivors not treated with extracorporeal membrane oxygenation.

Science.gov (United States)

Frisk, Virginia; Jakobson, Lorna S; Unger, Sharon; Trachsel, Daniel; O'Brien, Karel

2011-07-01

Although there has been a marked improvement in the survival of children with congenital diaphragmatic hernia (CDH) in the past 2 decades, there are few reports of long-term neurodevelopmental outcome in this population. The present study examined neurodevelopmental outcomes in 10- to 16-year-old CDH survivors not treated with extracorporeal membrane oxygenation (ECMO). Parents of 27 CDH survivors completed questionnaires assessing medical problems, daily living skills, educational outcomes, behavioral problems, and executive functioning. Fifteen CDH survivors and matched full-term controls completed standardized intelligence, academic achievement, phonological processing, and working memory tests. Non-ECMO-treated CDH survivors demonstrated high rates of clinically significant difficulties on standardized academic achievement measures, and 14 of the 27 survivors had a formal diagnosis of specific learning disability, attention deficit hyperactivity disorder, or developmental disability. Specific problems with executive function, cognitive and attentional weaknesses, and social difficulties were more common in CDH patients than controls. Perioperative hypocapnia was linked to executive dysfunction, behavioral problems, lowered intelligence, and poor achievement in mathematics. Non-ECMO-treated CDH survivors are at substantial risk for neurodevelopmental problems in late childhood and adolescence. Copyright © 2011 Elsevier Inc. All rights reserved.

Prevalence and risk factors associated with non-attendance in neurodevelopmental follow-up clinic among infants with CHD.

Science.gov (United States)

Loccoh, Eméfah C; Yu, Sunkyung; Donohue, Janet; Lowery, Ray; Butcher, Jennifer; Pasquali, Sara K; Goldberg, Caren S; Uzark, Karen

2018-04-01

Neurodevelopmental impairment is increasingly recognised as a potentially disabling outcome of CHD and formal evaluation is recommended for high-risk patients. However, data are lacking regarding the proportion of eligible children who actually receive neurodevelopmental evaluation, and barriers to follow-up are unclear. We examined the prevalence and risk factors associated with failure to attend neurodevelopmental follow-up clinic after infant cardiac surgery. Survivors of infant (neurodevelopmental clinic attendees and non-attendees in univariate and multivariable analyses. A total of 552 patients were included; median age at surgery was 2.4 months, 15% were premature, and 80% had moderate-severe CHD. Only 17% returned for neurodevelopmental evaluation, with a median age of 12.4 months. In univariate analysis, non-attendees were older at surgery, had lower surgical complexity, fewer non-cardiac anomalies, shorter hospital stay, and lived farther from the surgical center. Non-attendee families had lower income, and fewer were college graduates or had private insurance. In multivariable analysis, lack of private insurance remained independently associated with non-attendance (adjusted odds ratio 1.85, p=0.01), with a trend towards significance for distance from surgical center (adjusted odds ratio 2.86, p=0.054 for ⩾200 miles). The majority of infants with CHD at high risk for neurodevelopmental dysfunction evaluated in this study are not receiving important neurodevelopmental evaluation. Efforts to remove financial/insurance barriers, increase access to neurodevelopmental clinics, and better delineate other barriers to receipt of neurodevelopmental evaluation are needed.

Sex difference in disability and handicap at five years of age in children born at very short gestation

NARCIS (Netherlands)

Verloove-Vanhorick, S.P.; Veen, S.; Ens-Dokkum, M.H.; Schreuder, A.M.; Brand, R.; Ruys, J.H.

1994-01-01

Objective. The objective of this study was to examine the relationship between sex and disabilities or handicaps at 5 years of age in infants born at less than 32 weeks gestation. Design. From the nationwide collaborative survey starting in 1983, including perinatal data obtained during routine

Neurodevelopmental outcome at 5 years of age of a national cohort of extremely low birth weight infants who were born in 1996-1997.

Science.gov (United States)

Mikkola, Kaija; Ritari, Niina; Tommiska, Viena; Salokorpi, Teija; Lehtonen, Liisa; Tammela, Outi; Pääkkönen, Leena; Olsen, Päivi; Korkman, Marit; Fellman, Vineta

2005-12-01

Increasing survival of extremely low birth weight (ELBW; birth weight infants raises a concern regarding the risks of adverse long-term outcome such as cognitive dysfunction. Few studies have reported long-term follow-up of representative regional cohorts. The objective of this study was to assess the 5-year outcome of a prospectively followed national ELBW infant cohort. Of all live-born ELBW infants (n = 351) who were delivered in the 2-year period 1996-1997 in Finland, 206 (59%) survived until the age of 5 years. Of these, 103 were born at infants who were born at memory values of NEPSY assessment were significantly poorer compared with normal population means. Four percent needed a hearing aid, and 30% had ophthalmic findings. Of 21 children who had been treated with laser/cryo for retinopathy of prematurity, 17 (81%) had abnormal ophthalmic findings. Of the whole cohort, 41 (20%) exhibited major disabilities, 38 (19%) exhibited minor disabilities, and 124 (61%) showed development with no functional abnormalities but subtle departures from the norm. Only 53 (26%) of the total ELBW infant cohort were classified to have normal outcome excluding any abnormal ophthalmic, auditory, neurologic, or developmental findings. Being small for gestational age at birth was associated with suboptimal growth at least until age 5. Only one fourth of the ELBW infants were classified as normally developed at age 5. The high rate of cognitive dysfunction suggests an increased risk for learning difficulties that needs to be evaluated at a later age. Extended follow-up should be the rule in outcome studies of ELBW infant cohorts to elucidate the impact of immaturity on school achievement and social behavior later in life.

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

Changes in Mothers' Experiences of Receiving an Autism Diagnosis: A Contextualized Case Study

Science.gov (United States)

Hornstein, Shana

2011-01-01

Autism has a unique history. The definition has broadened and changed over time, from an emotional disturbance with psychogenic origins to a neurodevelopmental disability with suspected environmental and genetic origins. Diagnosis occurs later than children born with obvious disabilities such as cerebral palsy or Down syndrome, but earlier than…

Efficacy of neurodevelopmental treatment combined with the Nintendo(®) Wii in patients with cerebral palsy.

Science.gov (United States)

Acar, Gönül; Altun, Gamze Polen; Yurdalan, SaadetUfuk; Polat, Mine Gülden

2016-03-01

[Purpose] The aim of this study was to investigate the efficiency of Nintendo(®) Wii games in addition to neurodevelopmental treatment in patients with cerebral palsy. [Subjects and Methods] Thirty hemiparetic cerebral palsy patients (16 females, 14 males; mean age, 6-15 years) were included in the study and divided into two groups: a neurodevelopmental treatment+Nintendo Wii group (group 1, n=15) and a neurodevelopmental treatment group (group 2, n=15). Both groups received treatment in 45-minute sessions 2 days/week for six weeks. Use of the upper extremities, speed, disability and functional independence were evaluated using the Quality of Upper Extremity Skills Test, Jebsen Taylor Hand Function Test, ABILHAND-Kids test, and Pediatric Functional Independence Measure (self-care) before and after treatment. [Results] There were statistically significant improvements in all parameters for group 1 and group 2 (except quality of function) after six weeks of treatment. Intergroup analysis showed that group 1 was superior to group 2 in mean change differences in the Jebsen Taylor Hand Function Test. [Conclusion] Our results showed that neurodevelopmental treatment is effective for improving hand functions in hemiplegic cerebral palsy. To provide a enjoyable, motivational, safe, and effective rehabilitation program, the Nintendo(®) Wii may be used in addition to neurodevelopmental treatment.

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

2015-07-01

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.

Autism as early neurodevelopmental disorder: evidence for an sAPPα-mediated anabolic pathway

OpenAIRE

Lahiri, Debomoy K.; Sokol, Deborah K.; Erickson, Craig; Ray, Balmiki; Ho, Chang Y.; Maloney, Bryan

2013-01-01

Autism is a neurodevelopmental disorder marked by social skills and communication deficits and interfering repetitive behavior. Intellectual disability often accompanies autism. In addition to behavioral deficits, autism is characterized by neuropathology and brain overgrowth. Increased intracranial volume often accompanies this brain growth. We have found that the Alzheimer’s disease (AD) associated amyloid-β precursor protein (APP), especially its neuroprotective processing product, secrete...

Evaluation of early childhood social-communication difficulties in children born preterm using the Quantitative Checklist for Autism in Toddlers.

Science.gov (United States)

Wong, Hilary S; Huertas-Ceballos, Angela; Cowan, Frances M; Modi, Neena

2014-01-01

To characterize early childhood social-communication skills and autistic traits in children born very preterm using the Quantitative Checklist for Autism in Toddlers (Q-CHAT) and explore neonatal and sociodemographic factors associated with Q-CHAT scores. Parents of children born before 30 weeks gestation and enrolled in a study evaluating routinely collected neurodevelopmental data between the post-menstrual ages of 20 and 28 months were invited to complete the Q-CHAT questionnaire. Children with severe neurosensory disabilities and cerebral palsy were excluded. Participants received neurodevelopmental assessments using the Bayley Scales of Infant and Toddler Development, 3rd edition (Bayley-III). Q-CHAT scores of this preterm cohort were compared with published general population scores. The association between Bayley-III cognitive and language scores and neonatal and sociodemographic factors with Q-CHAT scores were examined. Q-CHAT questionnaires were completed from 141 participants. At a mean post-menstrual age of 24 months, the Q-CHAT scores of the preterm cohort (mean 33.7, SD 8.3) were significantly higher than published general population scores (mean 26.7; SD 7.8), indicating greater social-communication difficulty and autistic behavior. Preterm children received higher scores, particularly in the categories of restricted, repetitive, stereotyped behavior, communication, and sensory abnormalities. Lower Bayley-III language scores and non-white ethnicity were associated with higher Q-CHAT scores. Preterm children display greater social-communication difficulty and autistic behavior than the general population in early childhood as assessed by the Q-CHAT. The implications for longer-term outcome will be important to assess. Copyright © 2014 Mosby, Inc. All rights reserved.

Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome.

Science.gov (United States)

Alaimo, Joseph T; Barton, Laura V; Mullegama, Sureni V; Wills, Rachel D; Foster, Rebecca H; Elsea, Sarah H

2015-12-01

Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder associated with intellectual disability, sleep disturbances, early onset obesity and vast behavioral deficits. We used the Behavior Problems Inventory-01 to categorize the frequency and severity of behavioral abnormalities in a SMS cohort relative to individuals with intellectual disability of heterogeneous etiology. Self-injurious, stereotyped, and aggressive/destructive behavioral scores indicated that both frequency and severity were significantly higher among individuals with SMS relative to those with intellectual disability. Next, we categorized food behaviors in our SMS cohort across age using the Food Related Problems Questionnaire (FRPQ) and found that problems began to occur in SMS children as early as 5-11 years old, but children 12-18 years old and adults manifested the most severe problems. Furthermore, we evaluated the similarities of SMS adult food-related behaviors to those with intellectual disability and found that SMS adults had more severe behavioral problems. Many neurodevelopmental disorders exhibit syndromic obesity including SMS. Prader-Willi syndrome (PWS) is the most frequent neurodevelopmental disorder with syndromic obesity and has a well-established management and treatment plan. Using the FRPQ we found that SMS adults had similar scores relative to PWS adults. Both syndromes manifest weight gain early in development, and the FRPQ scores highlight specific areas in which behavioral similarities exist, including preoccupation with food, impaired satiety, and negative behavioral responses. SMS food-related behavior treatment paradigms are not as refined as PWS, suggesting that current PWS treatments for prevention of obesity may be beneficial for individuals with SMS. Copyright © 2015 Elsevier Ltd. All rights reserved.

Doxapram and developmental delay at 12 months in children born extremely preterm

DEFF Research Database (Denmark)

Lando, Ane; Klamer, Anja; Jonsbo, Finn

2005-01-01

AIM: To examine the relation of doxapram to a developmental score achieved by a structured telephone interview in a group of extremely-preterm-born children. METHODS: Parents of 88 children born extremely preterm were contacted by telephone and interviewed by a structured questionnaire (R-PDQ) wh...... the corrected age of their child was 9-15 mo. RESULTS: We found that doxapram treatment was associated with a deficit in age-adjusted R-PDQ score. CONCLUSION: Doxapram may have a negative effect on neurodevelopmental outcome....

Parental Perceptions of Family Centered Care in Medical Homes of Children with Neurodevelopmental Disabilities.

Science.gov (United States)

Zajicek-Farber, Michaela L; Lotrecchiano, Gaetano R; Long, Toby M; Farber, Jon Matthew

2015-08-01

Life course theory sets the framework for strong inclusion of family centered care (FCC) in quality medical homes of children with neurodevelopmental disabilities (CNDD). The purpose of this study was to explore the perceptions of families with their experiences of FCC in medical homes for CNDD. Using a structured questionnaire, the Family-Centered Care Self-Assessment Tool developed by Family Voices, this study surveyed 122 parents of CNDD in a large urban area during 2010-2012. Data collected information on FCC in the provision of primary health care services for CNDD and focused on family-provider partnerships, care setting practices and policies, and community services. Frequency analysis classified participants' responses as strengths in the "most of the time" range, and weaknesses in the "never" range. Only 31 % of parents were satisfied with the primary health care their CNDD received. Based on an accepted definition of medical home services, 16 % of parents reported their CNDD had most aspects of a medical home, 64 % had some, and 20 % had none. Strengths in FCC were primarily evident in the family-provider partnership and care settings when focused on meeting the medical care needs of the child. Weaknesses in FCC were noted in meeting the needs of families, coordination, follow-up, and support with community resources. Improvements in key pediatric health care strategies for CNDD are recommended. CNDD and their families have multifaceted needs that require strong partnerships among parents, providers, and communities. Quality medical homes must include FCC and valued partnerships with diverse families and community-based providers.

Neurodevelopmental outcome in isolated mild fetal ventriculomegaly: systematic review and meta-analysis.

Science.gov (United States)

Pagani, G; Thilaganathan, B; Prefumo, F

2014-09-01

similar to that noted in the general population, large prospective cohort studies assessing the prevalence of childhood disability, rather than subtle neurodevelopmental delay, are required. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

Neurodevelopmental Abnormalities and Congenital Heart Disease: Insights into Altered Brain Maturation

Science.gov (United States)

Morton, Paul D.; Ishibashi, Nobuyuki; Jonas, Richard A.

2017-01-01

In the past two decades it has become evident that individuals born with congenital heart disease (CHD) are at risk of developing life-long neurological deficits. Multifactorial risk factors contributing to neurodevelopmental abnormalities associated with CHD have been identified; however the underlying etiologies remain largely unknown and efforts to address this issue have only recently begun. There has been a dramatic shift in focus from newly acquired brain injuries associated with corrective and palliative heart surgery to antenatal and preoperative factors governing altered brain maturation in CHD. In this review, we describe key time windows of development during which the immature brain is vulnerable to injury. Special emphasis is placed on the dynamic nature of cellular events and how CHD may adversely impact the cellular units and networks necessary for proper cognitive and motor function. In addition, we describe current gaps in knowledge and offer perspectives about what can be done to improve our understanding of neurological deficits in CHD. Ultimately, a multidisciplinary approach will be essential in order to prevent or improve adverse neurodevelopmental outcomes in individuals surviving CHD. PMID:28302742

Needs of Adolescents and Young Adults with Neurodevelopmental Disorders: Comparisons of Young People and Parent Perspectives

Science.gov (United States)

Eklund, Hanna; Findon, James; Cadman, Tim; Hayward, Hannah; Murphy, Declan; Asherson, Philip; Glaser, Karen; Xenitidis, Kiriakos

2018-01-01

This study used the Camberwell Assessment of Need for adults with Developmental and Intellectual Disabilities (CANDID) to examine the social, physical health and mental health needs of 168 young people (aged 14-24 years) with neurodevelopmental disorders and compared young person and parent ratings of need. Agreement was poor in 21 out of 25…

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.

[Etiological, clinical and neuroradiological investigation of deaf children with additional neuropsychiatric disabilities].

Science.gov (United States)

Chilosi, A M; Scusa, M F; Comparini, A; Genovese, E; Forli, F; Berrettini, S; Cipriani, P

2012-04-01

Sensorineural hearing loss (SNHL) is complicated by additional disabilities in about 30% of cases, but the epidemiology of associated disorders, in terms of type, frequency and aetiology is still not clearly defined. Additional disabilities in a deaf child have important consequences in assessing and choosing a therapeutic treatment, in particular when considering cochlear implantation (CI) or hearing aids (HA). The aim of this paper was to evaluate frequency, type and severity of additional neurodevelopmental disabilities in children with profound bilateral sensorineural hearing loss and to investigate the relationship between disability and the etiology of deafness. Eighty children with profound bilateral sensorineural hearing loss (mean age 5.4 years) were investigated by means of a diagnostic protocol including clinical, neurodevelopmental, and audiological procedures together with genetic and neurometabolic tests and neuroradiological investigation by brain MRI. Fifty-five percent of the sample exhibited one or more disabilities in addition to deafness, with cognitive, behavioural-emotional and motor disorders being the most frequent. The risk of additional disabilities varied according to aetiology, with a higher incidence in hereditary syndromic deafness, in cases due to pre-perinatal pathology (in comparison to unknown and hereditary non syndromic forms) and in the presence of major brain abnormalities at MRI. Our results suggest that the aetiology of deafness may be a significant risk indicator for the presence of neuropsychiatric disorders. A multidimensional evaluation, including aetiological, neurodevelopmental and MRI investigation is needed for formulating prognosis and for planning therapeutic intervention, especially in those children candidated to cochlear implant.

Human GRIN2B variants in neurodevelopmental disorders

Directory of Open Access Journals (Sweden)

Chun Hu

2016-10-01

Full Text Available The development of whole exome/genome sequencing technologies has given rise to an unprecedented volume of data linking patient genomic variability to brain disorder phenotypes. A surprising number of variants have been found in the N-methyl-d-aspartate receptor (NMDAR gene family, with the GRIN2B gene encoding the GluN2B subunit being implicated in many cases of neurodevelopmental disorders, which are psychiatric conditions originating in childhood and include language, motor, and learning disorders, autism spectrum disorder (ASD, attention deficit hyperactivity disorder (ADHD, developmental delay, epilepsy, and schizophrenia. The GRIN2B gene plays a crucial role in normal neuronal development and is important for learning and memory. Mutations in human GRIN2B were distributed throughout the entire gene in a number of patients with various neuropsychiatric and developmental disorders. Studies that provide functional analysis of variants are still lacking, however current analysis of de novo variants that segregate with disease cases such as intellectual disability, developmental delay, ASD or epileptic encephalopathies reveal altered NMDAR function. Here, we summarize the current reports of disease-associated variants in GRIN2B from patients with multiple neurodevelopmental disorders, and discuss implications, highlighting the importance of functional analysis and precision medicine therapies.

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.

Association of Neurodevelopmental Outcomes and Neonatal Morbidities of Extremely Premature Infants With Differential Exposure to Antenatal Steroids.

Science.gov (United States)

Chawla, Sanjay; Natarajan, Girija; Shankaran, Seetha; Pappas, Athina; Stoll, Barbara J; Carlo, Waldemar A; Saha, Shampa; Das, Abhik; Laptook, Abbot R; Higgins, Rosemary D

2016-12-01

Many premature infants are born without exposure to antenatal steroids (ANS) or with incomplete courses. This study evaluates the dose-dependent effect of ANS on rates of neonatal morbidities and early childhood neurodevelopmental outcomes of extremely premature infants. To compare rates of neonatal morbidities and 18- to 22-month neurodevelopmental outcomes of extremely premature infants exposed to no ANS or partial or complete courses of ANS. In this observational cohort study, participants were extremely premature infants (birth weight range, 401-1000 g; gestational age, 22-27 weeks) who were born at participating centers of the National Institute of Child Health and Human Development Neonatal Research Network between January 2006 and December 2011. Data were analyzed between October 2013 and May 2016. Rates of death or neurodevelopmental impairment at 18 to 22 months' corrected age. Neurodevelopmental impairment was defined as the presence of any of the following: moderate to severe cerebral palsy, a cognitive score less than 85 on the Bayley Scales of Infant and Toddler Development III, blindness, or deafness. There were 848 infants in the no ANS group, 1581 in the partial ANS group, and 3692 in the complete ANS group; the mean (SD) birth weights were 725 (169), 760 (173), and 753 (170) g, respectively, and the mean (SD) gestational ages were 24.5 (1.4), 24.9 (2), and 25.1 (1.1) weeks. Of 6121 eligible infants, 4284 (70.0%) survived to 18- to 22-month follow-up, and data were available for 3892 of 4284 infants (90.8%). Among the no, partial, and complete ANS groups, there were significant differences in the rates of mortality (43.1%, 29.6%, and 25.2%, respectively), severe intracranial hemorrhage among survivors (23.3%, 19.1%, and 11.7%), death or necrotizing enterocolitis (48.1%, 37.1%, and 32.5%), and death or bronchopulmonary dysplasia (74.9%, 68.9%, and 65.5%). Additionally, death or neurodevelopmental impairment occurred in 68.1%, 54.4%, and 48.1% of

Attention deficit hyperactivity disorder and autism spectrum disorder symptoms in school-age children born very preterm

NARCIS (Netherlands)

Bröring, Tinka; Oostrom, Kim J.; van Dijk-Lokkart, Elisabeth M.; Lafeber, Harrie N.; Brugman, Anniek; Oosterlaan, Jaap

2018-01-01

Very preterm (VP) children face a broad range of neurodevelopmental sequelae, including behavioral problems. To investigate prevalence, pervasiveness and co-occurrence of symptoms of attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) in school-age children born very

Variability in Clinical Presentation of Neonatal Stroke: Report of Four Cases

OpenAIRE

Joseph, Sonia; Angelis, Dimitrios; Bennett, Robert; Kola, Bhargavi; Hughes, Amanda

2017-01-01

Neonatal stroke can be a cause of long term neurodevelopmental disability, seizures, and impaired cognitive function. We present four cases of neonatal stroke, associated with different risk factors and clinical presentations. Two of these newborns were born to mothers with no prenatal care.

Antisocial Personality as a Neurodevelopmental Disorder.

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Raine, Adrian

2018-05-07

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.

Neurodevelopmental Impairment among Infants Born to Mothers Infected with Human Immunodeficiency Virus and Uninfected Mothers from Three Peri-Urban Primary Care Clinics in Harare, Zimbabwe

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Kandawasvika, Gwendoline Q.; Ogundipe, Enitan; Gumbo, Felicity Z.; Kurewa, Edith N.; Mapingure, Munyaradzi P.; Stray-Pedersen, Babill

2011-01-01

Aim: The aim of this article is to document the risk of neurodevelopmental impairment (NDI) among infants enrolled in a programme for the prevention of mother-to-child transmission of HIV (human immunodeficiency virus) in Zimbabwe using the Bayley Infant Neurodevelopmental Screener (BINS). Method: We prospectively followed up infants at three…

Childhood neurodevelopmental disorders and violent criminality: a sibling control study.

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Lundström, Sebastian; Forsman, Mats; Larsson, Henrik; Kerekes, Nora; Serlachius, Eva; Långström, Niklas; Lichtenstein, Paul

2014-11-01

The longitudinal relationship between attention deficit hyperactivity disorder (ADHD) and violent criminality has been extensively documented, while long-term effects of autism spectrum disorders (ASDs), tic disorders (TDs), and obsessive compulsive disorder (OCD) on criminality have been scarcely studied. Using population-based registers of all child and adolescent mental health services in Stockholm, we identified 3,391 children, born 1984-1994, with neurodevelopmental disorders, and compared their risk for subsequent violent criminality with matched controls. Individuals with ADHD or TDs were at elevated risk of committing violent crimes, no such association could be seen for ASDs or OCD. ADHD and TDs are risk factors for subsequent violent criminality, while ASDs and OCD are not associated with violent criminality.

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

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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

Sleep Disturbances in Neurodevelopmental Disorders.

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Robinson-Shelton, Althea; Malow, Beth A

2016-01-01

Sleep disturbances are extremely prevalent in children with neurodevelopmental disorders compared to typically developing children. The diagnostic criteria for many neurodevelopmental disorders include sleep disturbances. Sleep disturbance in this population is often multifactorial and caused by the interplay of genetic, neurobiological and environmental overlap. These disturbances often present either as insomnia or hypersomnia. Different sleep disorders present with these complaints and based on the clinical history and findings from diagnostic tests, an appropriate diagnosis can be made. This review aims to provide an overview of causes, diagnosis, and treatment of sleep disturbances in neurodevelopmental disorders that present primarily with symptoms of hypersomnia and/or insomnia.

Abnormal neurodevelopmental outcomes are very likely in cases of bilateral neonatal arterial ischaemic stroke.

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Jin, Ju Hyun; Shin, Jeong Eun; Lee, Soon Min; Eun, Ho Seon; Park, Min Soo; Park, Kook In; Namgung, Ran

2017-02-01

Neonatal arterial ischaemic stroke (AIS) is an important cause of severe neurological disability. This study aimed to analyse the clinical manifestations and outcomes of AIS patients. We enrolled neonates with AIS admitted to Severance Children's Hospital and Gangnam Severance Hospital between 2008 and 2015. AIS was confirmed using magnetic resonance imaging (MRI). We retrospectively reviewed the clinical manifestations, MRI findings, electroencephalography (EEG) findings and neurodevelopmental outcomes. The study comprised 29 neonates (18 boys). The mean follow-up period was 15.4 months (range 6-44 months), and the mean age at diagnosis was 8.1 days. Seizure was the most common symptom (66%). Bilateral involvement was more common than unilateral involvement (52%). The middle cerebral artery was the most commonly identified territory (79%). Abnormal EEG findings were noted in 93% of the cases. Neurodevelopment was normal in 11 (38%) patients, while cerebral palsy and delayed development were noted in eight (28%) and six (21%) patients, respectively. Patients with bilateral involvement were very likely to have abnormal neurodevelopmental outcomes. Our study showed that abnormal neurodevelopmental outcomes were very likely after cases of neonatal AIS with bilateral involvement, and clinicians should consider early and more effective interventions in such cases. ©2016 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

Infant and childhood neurodevelopmental outcomes following prenatal exposure to selective serotonin reuptake inhibitors: overview and design of a Finnish Register-Based Study (FinESSI

Directory of Open Access Journals (Sweden)

Malm Heli

2012-12-01

Full Text Available Abstract Background Experimental animal studies and one population-based study have suggested an increased risk for adverse neurodevelopmental outcome after prenatal exposure to SSRIs. We describe the methods and design of a population-based study examining the association between prenatal SSRI exposure and neurodevelopment until age 14. Methods and design This is a cohort study of national registers in Finland: the Medical Birth Register, the Register of Congenital Malformations, the Hospital Discharge Register including inpatient and outpatient data, the Drug Reimbursement Register, and the Population Register. The total study population includes 845,345 women and their live-born, singleton offspring aged 14 or younger and born during Jan 1st 1996-Dec 31st 2010. We will compare the prevalence of psychiatric and neurodevelopmental outcomes in offspring exposed prenatally to SSRIs to offspring exposed to prenatal depression and unexposed to SSRIs. Associations between exposure and outcome are assessed by statistical methods including specific modeling to account for correlated outcomes within families and differences in duration of follow-up between the exposure groups. Descriptive results. Of all pregnant women with pregnancy ending in delivery (n = 859,359, 1.9% used SSRIs. The prevalence of diagnosed depression and depression-related psychiatric disorders within one year before or during pregnancy was 1.7%. The cumulative incidence of registered psychiatric or neurodevelopmental disorders was 6.9% in 2010 among all offspring born during the study period (age range 0–14 years. Discussion The study has the potential for significant public health importance in providing information on prenatal exposure to SSRIs and long-term neurodevelopment.

Postnatal testosterone may be an important mediator of the association between prematurity and male neurodevelopmental disorders: a hypothesis.

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Rice, Timothy R

2017-04-01

Children born premature are at risk for neurodevelopmental disorders, including autism and schizophrenia. This piece advances the hypothesis that altered androgen exposure observed in premature infants is an important mediator of the neurodevelopmental risk in males associated with prematurity. Specifically, the alterations of normative physiologic postnatal activations of the hypothalamic-pituitary-gonadal axis that occur in preterm males are hypothesized to contribute to the risk of neuropsychiatric pathology of prematurity through altered androgen-mediated organizational effects on the developing brain. The physiology of testosterone and male central nervous system development in full-term births is reviewed and compared to the developmental processes of prematurity. The effects of the altered testosterone physiology observed within prematurity outside of the central nervous system are reviewed as a segue into a discussion of the effects within the nervous system, with a special focus on autism spectrum disorders and attention deficit hyperactivity disorder. The explanatory power of this model is reviewed as a supplement to the preexisting models of prematurity and neurodevelopmental risk, including infection and other perinatal central nervous system insults. The emphasis is placed on altered androgen exposure as serving as just one among many mediators of neurodevelopmental risk that may be of interest for further research and evidence-based investigation. Implications for diagnosis, management and preventative treatments conclude the piece.

Twelve tips for teaching child development and disability to medical students.

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McDonald, Jenny

2018-02-01

Child development is a marker of well-being in childhood and recognition of developmental delay allows timely investigation and intervention for children with developmental disabilities. Despite this, child development and disabilities are not given emphasis in the medical curriculum. This under representation of teaching combined with the stigma associated with disabilities contributes to the sub-optimal health care of people with disabilities. As well as, addressing the stigma of disability a medical undergraduate curriculum should include: the key concepts of child development; the clinical presentation of the most common developmental disabilities; developmental history taking and the infant neurodevelopmental examination. The following twelve tips provide practical advice about how to teach this knowledge and these skills during medical training.

Metabolic alterations and neurodevelopmental outcome of infants with transposition of the great arteries.

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Park, I Sook; Yoon, S Young; Min, J Yeon; Kim, Y Hwue; Ko, J Kok; Kim, K Soo; Seo, D Man; Lee, J Hee

2006-01-01

Abnormal neurodevelopment has been reported for infants who were born with transposition of the great arteries (TGA) and underwent arterial switch operation (ASO). This study evaluates the cerebral metabolism of TGA infants at birth and before ASO and neurodevelopment 1 year after ASO. Proton magnetic resonance spectroscopy (1H-MRS) was performed on 16 full-term TGA brains before ASO within 3-6 days after birth. The brain metabolite ratios of [NAA/Cr], [Cho/Cr], and [mI/Cr] evaluated measured. Ten infants were evaluated at 1 year using the Bayley Scales of Infants Development II (BSED II). Cerebral metabolism of infants with TGA was altered in parietal white matter (PWM) and occipital gray matter (OGM) at birth before ASO. One year after ASO, [Cho/Cr] in PWM remained altered, but all metabolic ratios in OGM were normal. The results of BSID II at 1 year showed delayed mental and psychomotor development. This delayed neurodevelopmental outcome may reflect consequences of the altered cerebral metabolism in PWM measured by 1H-MRS. It is speculated that the abnormal hemodynamics due to TGA in utero may be responsible for the impaired cerebral metabolism and the subsequent neurodevelopmental deficit.

Cognitive, motor, behavioural and academic performances of children born preterm: a meta-analysis and systematic review involving 64 061 children

NARCIS (Netherlands)

Allotey, J.; Zamora, J.; Cheong-See, F.; Kalidindi, M.; Arroyo-Manzano, D.; Asztalos, E.; van der Post, J. A. M.; Mol, B. W.; Moore, D.; Birtles, D.; Khan, K. S.; Thangaratinam, S.

2018-01-01

BackgroundPreterm birth may leave the brain vulnerable to dysfunction. Knowledge of future neurodevelopmental delay in children born with various degrees of prematurity is needed to inform practice and policy. ObjectiveTo quantify the long-term cognitive, motor, behavioural and academic performance

Neurodevelopmental Effects of Antiepileptic Drugs.

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Kellogg, Marissa; Meador, Kimford J

2017-07-01

Increasing evidence suggests that exposure to certain antiepileptic drugs (AEDs) during critical periods of development may induce transient or long-lasting neurodevelopmental deficits across cognitive, motor and behavioral domains. The developing nervous system may endure prolonged chronic exposure to AEDs during pregnancy (in utero) or during childhood, which can lead to neurodevelopmental defects such as congenital neural tube defects, lower IQ, language deficits, autism and ADHD. To date, valproate is the most widely recognized AED to significantly negatively affect neurodevelopment, and demonstrates greater adverse effects than any other AEDs that have been assessed. Although some AEDs appear to have low risk (i.e., lamotrigine, levetiracetam), other AEDs have been implicated in a variety of studies detailed below, and many AEDs have not been adequately assessed. The purpose of this review article is to summarize our current understanding of the neurodevelopmental effects of AEDs.

Weight Status in the First 2 Years of Life and Neurodevelopmental Impairment in Extremely Low Gestational Age Newborns.

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Belfort, Mandy B; Kuban, Karl C K; O'Shea, T Michael; Allred, Elizabeth N; Ehrenkranz, Richard A; Engelke, Stephen C; Leviton, Alan

2016-01-01

To examine the extent to which weight gain and weight status in the first 2 years of life relate to the risk of neurodevelopmental impairment in extremely preterm infants. In a cohort of 1070 infants born between 23 and 27 weeks' gestation, we examined weight gain from 7-28 days of life (in quartiles) and weight z-score at 12 and 24 months corrected age (in 4 categories: Weight gain in the lowest quartile from 7-28 days was not associated with higher risk of adverse outcomes. Children with a 12-month weight z-score weight z-score weight z-score at 24 months with adverse outcomes were attenuated with exclusion of children with motor impairment. Excluding children who have gross motor impairment appears to eliminate the association of low weight status with neurodevelopmental impairments at 2 years in extremely preterm infants. Copyright © 2016 Elsevier Inc. All rights reserved.

The Development of Extremely Preterm Infants Born to Women Who Had Genitourinary Infections During Pregnancy.

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Leviton, Alan; Allred, Elizabeth N; Kuban, Karl C K; O'Shea, T Michael; Paneth, Nigel; Onderdonk, Andrew B; Fichorova, Raina N; Dammann, Olaf

2016-01-01

Gestational genitourinary infections, which have been associated with neurodevelopmental impairments among infants born near term, have not been studied among very preterm infants. The mothers of 989 infants born before 28 weeks of gestation were interviewed about urine, bladder, or kidney infections (UTIs) and cervical or vaginal infections (CVIs) during pregnancy, as well as other exposures and characteristics, and their charts were reviewed for the Extremely Low Gestational Age Newborns (ELGAN) Study (2002-2004). At 2 years of age, these infants underwent a neurodevelopmental assessment. Generalized estimating equation logistic regression models of developmental adversities were used to adjust for potential confounders. Infants born to women who reported a UTI were less likely than were others to have a very low Mental Development Index (adjusted odds ratio = 0.5; 95% confidence interval: 0.3, 0.8), whereas infants born to women who reported a CVI were more likely than others to have a low Psychomotor Development Index (adjusted odds ratio = 1.7; 95% confidence interval: 1.04, 2.7). In this high-risk sample, maternal gestational CVI, but not UTI, was associated with a higher risk of impaired motor development at 2 years of age. The apparent protective effect of UTI might be spurious, reflect confounding due to untreated asymptomatic bacteriuria among women who were not given a diagnosis of UTI, or reflect preconditioning. © The Author 2015. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

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

associated neurological features. With the exception of one patient who experienced a single seizure, all patients had epilepsy, characterised by falls or head drops due to atonic or myoclonic seizures, (myoclonic) absences and/or eyelid myoclonia. Triggers of seizures were frequent (n=7). Seizures were...... pharmacoresistant in half of the patients. The severity of the epilepsy did not correlate with the presence of autistic features or with the severity of cognitive impairment. Mutations were distributed throughout the gene, but spared spliced 3' and 5' exons. Seizures in patients with mutations in exons 4-5 were...... more pharmacoresponsive than in patients with mutations in exons 8-15. CONCLUSIONS: SYNGAP1 encephalopathy is characterised by early neurodevelopmental delay typically preceding the onset of a relatively recognisable epilepsy comprising generalised seizures (absences, myoclonic jerks) and frequent...

Relationship Between Perinatal and Neonatal Indices and Intelligence Quotient in Very Low Birth Weight Infants at the Age of 6 or 8 Years

OpenAIRE

Mu, Shu-Chi; Lin, Cheng-Hui; Chen, Yi-Ling; Chang, Chia-Han; Tsou, Kuo-Inn

2008-01-01

The majority of children born with very low birth weight (VLBW; < 1500 g) enter mainstream schools. They experience significant neurodevelopmental disabilities during childhood. The specific aims of our study were to evaluate the neonatal outcomes of VLBW infants and whether they would influence intelligence quotient (IQ), cognitive function and learning disabilities at the age of 6 or 8 years. Methods: We enrolled VLBW neonates who weighed less than 1500 g and who were delivered at Shin-K...

Neurodevelopmental and Behavioral Outcomes in Extremely Premature Neonates With Ventriculomegaly in the Absence of Periventricular-Intraventricular Hemorrhage.

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Pappas, Athina; Adams-Chapman, Ira; Shankaran, Seetha; McDonald, Scott A; Stoll, Barbara J; Laptook, Abbot R; Carlo, Waldemar A; Van Meurs, Krisa P; Hintz, Susan R; Carlson, Martha D; Brumbaugh, Jane E; Walsh, Michele C; Wyckoff, Myra H; Das, Abhik; Higgins, Rosemary D

2018-01-01

Studies of cranial ultrasonography and early childhood outcomes among cohorts of extremely preterm neonates have linked periventricular-intraventricular hemorrhage and cystic periventricular leukomalacia with adverse neurodevelopmental outcomes. However, the association between nonhemorrhagic ventriculomegaly and neurodevelopmental and behavioral outcomes is not fully understood. To characterize the outcomes of extremely preterm neonates younger than 27 weeks' gestational age who experienced nonhemorrhagic ventriculomegaly that was detected prior to 36 weeks' postmenstrual age. This longitudinal observational study was conducted at 16 centers of the Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network. Infants born prior to 27 weeks' gestational age in any network facility between July 1, 2006, and June 30, 2011, were included if they had a cranial ultrasonogram performed prior to 36 weeks' postmenstrual age. Comparisons were made between those with ventriculomegaly and those with normal cranial sonograms. Data analysis was completed from August 2013 to August 2017. The main outcome was neurodevelopmental impairment, defined as a Bayley Scales of Infant and Toddler Development III cognitive score less than 70, moderate/severe cerebral palsy, a Gross Motor Function Classification System score of level 2 or more, vision impairment, or hearing impairment. Secondary outcomes included Bayley Scales of Infant and Toddler Development III subscores, components of neurodevelopmental impairment, behavioral outcomes, and death/neurodevelopmental impairment. Logistic regression was used to evaluate the association of ventriculomegaly with adverse outcomes while controlling for potentially confounding variables and center differences as a random effect. Linear regression was used similarly for continuous outcomes. Of 4193 neonates with ultrasonography data, 300 had nonhemorrhagic ventriculomegaly (7%); 3045 had normal cranial

Brain imaging and neurodevelopmental outcome at school age in preterm-born infants: Effects of neonatal hydrocortisone treatment

NARCIS (Netherlands)

Rademaker, K.J.

2006-01-01

A 2-year cohort of 236 preterm-born infants (gestational age < 32 weeks and/or birth weight < 1500 grams), born between March 1, 1991 and March 1, 1993 and admitted to the NICU of the Wilhelmina Children's Hospital, was evaluated at school age. This cohort represented 83.4% of the surviving

Mental, psychomotor, neurologic, and behavioral outcomes of 2-year-old children born after preimplantation genetic screening : follow-up of a randomized controlled trial

NARCIS (Netherlands)

Middelburg, Karin J.; van der Heide, Maaike; Houtzager, Bregje; Pereboom, Marjolein; Fidler, Vaclav; Bos, Arend F.; Kok, Joke; Hadders-Algra, Mijna

Objective: To evaluate the effect of preimplantation genetic screening (PGS) on neurodevelopmental outcomes in children. Design: Prospective, assessor-blinded, follow-up study of children born to women randomly assigned to in vitro fertilization or intracytoplasmic sperm injection (IVF/ICSI) with or

Hypoglycemia is associated with increased risk for brain injury and adverse neurodevelopmental outcome in neonates at risk for encephalopathy.

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Tam, Emily W Y; Haeusslein, Laurel A; Bonifacio, Sonia L; Glass, Hannah C; Rogers, Elizabeth E; Jeremy, Rita J; Barkovich, A James; Ferriero, Donna M

2012-07-01

To investigate the contribution of hypoglycemia in the first 24 hours after birth to brain injury in term newborns at risk for neonatal encephalopathy. A prospective cohort of 94 term neonates born between 1994 and 2010 with early postnatal brain magnetic resonance imaging studies were analyzed for regions of brain injury. Neurodevelopmental outcome was assessed at 1 year of age. Hypoglycemia (glucose encephalopathy with increased corticospinal tract injury and adverse motor and cognitive outcomes. Copyright © 2012 Mosby, Inc. All rights reserved.

Neurodevelopmental and Cognitive Outcomes in Children With Intestinal Failure.

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Chesley, Patrick M; Sanchez, Sabrina E; Melzer, Lilah; Oron, Assaf P; Horslen, Simon P; Bennett, F Curt; Javid, Patrick J

2016-07-01

Recent advances in medical and surgical management have led to improved long-term survival in children with intestinal failure. Yet, limited data exist on their neurodevelopmental and cognitive outcomes. The aim of the present study was to measure neurodevelopmental outcomes in children with intestinal failure. Children enrolled in a regional intestinal failure program underwent prospective neurodevelopmental and psychometric evaluation using a validated scoring tool. Cognitive impairment was defined as a mental developmental index Neurodevelopmental impairment was defined as cerebral palsy, visual or hearing impairment, or cognitive impairment. Univariate analyses were performed using the Wilcoxon rank-sum test. Data are presented as median (range). Fifteen children with a remnant bowel length of 18 (5-85) cm were studied at age 17 (12-67) months. Thirteen patients remained dependent on parenteral nutrition. Twelve (80%) subjects scored within the normal range on cognitive testing. Each child with cognitive impairment was noted to have additional risk factors independent of intestinal failure including cardiac arrest and extreme prematurity. On univariate analysis, cognitive impairment was associated with longer inpatient hospital stays, increased number of surgical procedures, and prematurity (P neurodevelopmental impairment. A majority of children with intestinal failure demonstrated normal neurodevelopmental and cognitive outcomes on psychometric testing. These data suggest that children with intestinal failure without significant comorbidity may be at low risk for long-term neurodevelopmental impairment.

Brain metabolite differences in one-year-old infants born small at term and association with neurodevelopmental outcome.

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Simões, Rui V; Cruz-Lemini, Mónica; Bargalló, Núria; Gratacós, Eduard; Sanz-Cortés, Magdalena

2015-08-01

We assessed brain metabolite levels by magnetic resonance spectroscopy (MRS) in 1-year-old infants born small at term, as compared with infants born appropriate for gestational age (AGA), and their association with neurodevelopment at 2 years of age. A total of 40 infants born small (birthweight growth restriction or as small for gestational age, based on the presence or absence of prenatal Doppler and birthweight predictors of an adverse perinatal outcome, respectively. Single-voxel proton magnetic resonance spectroscopy ((1)H-MRS) data were acquired from the frontal lobe at short echo time. Neurodevelopment was evaluated at 2 years of age using the Bayley Scales of Infant and Toddler Development, Third Edition, assessing cognitive, language, motor, social-emotional, and adaptive behavior scales. As compared with AGA controls, infants born small showed significantly higher levels of glutamate and total N-acetylaspartate (NAAt) to creatine (Cr) ratio at age 1 year, and lower Bayley Scales of Infant and Toddler Development, Third Edition scores at 2 years. The subgroup with late intrauterine growth restriction further showed lower estimated glutathione levels at age 1 year. Significant correlations were observed for estimated glutathione levels with adaptive scores, and for myo-inositol with language scores. Significant associations were also noticed for NAA/Cr with cognitive scores, and for glutamate/Cr with motor scores. Infants born small show brain metabolite differences at 1 year of age, which are correlated with later neurodevelopment. These results support further research on MRS to develop imaging biomarkers of abnormal neurodevelopment. Copyright © 2015 Elsevier Inc. All rights reserved.

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.

Parental Choices and Ethical Dilemmas Involving Disabilities: Special Education and the Problem of Deliberately Chosen Disabilities

Science.gov (United States)

Kauffman, James M.; Hallahan, Daniel P.

2009-01-01

Ethical issues regarding children with disabilities have long involved their treatment after they are born. These issues remain important, but children may be deliberately created with or without characteristics that are usually thought of as disabilities. Preimplantation genetic diagnosis (PGD) and related technologies that involve human…

Unwanted Sexual Contact: Students with Autism and Other Disabilities at Greater Risk

Science.gov (United States)

Brown, Kirsten R.; Peña, Edlyn Vallejo; Rankin, Susan

2017-01-01

Ten percent of college students identify as having a disability, and a subsample of this population, students with autism spectrum disorders (ASDs), are increasingly participating in higher education. Autism spectrum disorders represent a spectrum of neurodevelopmental differences that can contribute to difficulties in communication and social…

Cognitive, motor, behavioural and academic performances of children born preterm: a meta-analysis and systematic review involving 64 061 children.

Science.gov (United States)

Allotey, J; Zamora, J; Cheong-See, F; Kalidindi, M; Arroyo-Manzano, D; Asztalos, E; van der Post, Jam; Mol, B W; Moore, D; Birtles, D; Khan, K S; Thangaratinam, S

2018-01-01

Preterm birth may leave the brain vulnerable to dysfunction. Knowledge of future neurodevelopmental delay in children born with various degrees of prematurity is needed to inform practice and policy. To quantify the long-term cognitive, motor, behavioural and academic performance of children born with different degrees of prematurity compared with term-born children. PubMed and Embase were searched from January 1980 to December 2016 without language restrictions. Observational studies that reported neurodevelopmental outcomes from 2 years of age in children born preterm compared with a term-born cohort. We pooled individual estimates of standardised mean differences (SMD) and odds ratios (OR) with 95% confidence intervals using a random effects model. We included 74 studies (64 061 children). Preterm children had lower cognitive scores for FSIQ (SMD: -0.70; 95% CI: -0.73 to -0.66), PIQ (SMD: -0.67; 95% CI: -0.73 to -0.60) and VIQ (SMD: -0.53; 95% CI: -0.60 to -0.47). Lower scores for preterm children in motor skills, behaviour, reading, mathematics and spelling were observed at primary school age, and this persisted to secondary school age, except for mathematics. Gestational age at birth accounted for 38-48% of the observed IQ variance. ADHD was diagnosed twice as often in preterm children (OR: 1.6; 95% CI: 1.3-1.8), with a differential effect observed according to the severity of prematurity (I 2 = 49.4%, P = 0.03). Prematurity of any degree affects the cognitive performance of children born preterm. The poor neurodevelopment persists at various ages of follow up. Parents, educators, healthcare professionals and policy makers need to take into account the additional academic, emotional and behavioural needs of these children. Adverse effect of preterm birth on a child's neurodevelopment persists up to adulthood. © 2017 Royal College of Obstetricians and Gynaecologists.

Mortality, neonatal morbidity and two year follow-up of extremely preterm infants born in The Netherlands in 2007.

Directory of Open Access Journals (Sweden)

Cornelia G de Waal

Full Text Available Extremely preterm infants are at high risk of neonatal mortality and adverse outcome. Survival rates are slowly improving, but increased survival may come at the expense of more handicaps.Prospective population-based cohort study of all infants born at 23 to 27 weeks of gestation in The Netherlands in 2007. 276 of 345 (80% infants were born alive. Early neonatal death occurred in 96 (34.8% live born infants, including 61 cases of delivery room death. 29 (10.5% infants died during the late neonatal period. Survival rates for live born infants at 23, 24, 25 and 26 weeks of gestation were 0%, 6.7%, 57.9% and 71% respectively. 43.1% of 144 surviving infants developed severe neonatal morbidity (retinopathy of prematurity grade ≥3, bronchopulmonary dysplasia and/or severe brain injury. At two years of age 70.6% of the children had no disability, 17.6% was mild disabled and 11.8% had a moderate-to-severe disability. Severe brain injury (p = 0.028, retinopathy of prematurity grade ≥3 (p = 0.024, low gestational age (p = 0.019 and non-Dutch nationality of the mother (p = 0.004 increased the risk of disability.52% of extremely preterm infants born in The Netherlands in 2007 survived. Surviving infants had less severe neonatal morbidity compared to previous studies. At two years of age less than 30% of the infants were disabled. Disability was associated with gestational age and neonatal morbidity.

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 (Pneurodevelopmental 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.

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.

Neurodevelopmental profile of Fetal Alcohol Spectrum Disorder: A systematic review.

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Lange, Shannon; Rovet, Joanne; Rehm, Jürgen; Popova, Svetlana

2017-06-23

In an effort to improve the screening and diagnosis of individuals with Fetal Alcohol Spectrum Disorder (FASD), research has focused on the identification of a unique neurodevelopmental profile characteristic of this population. The objective of this review was to identify any existing neurodevelopmental profiles of FASD and review their classification function in order to identify gaps and limitations of the current literature. A systematic search for studies published up to the end of December 2016 reporting an identified neurodevelopmental profile of FASD was conducted using multiple electronic bibliographic databases. The search was not limited geographically or by language of publication. Original research published in a peer-reviewed journal that involved the evaluation of the classification function of an identified neurodevelopmental profile of FASD was included. Two approaches have been taken to determine the pathognomonic neurodevelopmental features of FASD, namely the utilization of i) behavioral observations/ratings by parents/caregivers and ii) subtest scores from standardized test batteries assessing a variety of neurodevelopmental domains. Both approaches show some promise, with the former approach (which is dominated by research on the Neurobehavioral Screening Tool) having good sensitivity (63% to 98%), but varying specificity (42% to 100%), and the latter approach having good specificity (72% to 96%), but varying sensitivity (60% to 88%). The current review revealed that research in this area remains limited and a definitive neurodevelopmental profile of FASD has not been established. However, the identification of a neurodevelopmental profile will aid in the accurate identification of individuals with FASD, by adding to the armamentarium of clinicians. The full review protocol is available in PROSPERO ( http://www.crd.york.ac.uk/PROSPERO/ ); registration number CRD42016039326; registered 20 May 2016.

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

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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

Post-discharge body weight and neurodevelopmental outcomes among very low birth weight infants in Taiwan: A nationwide cohort study.

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Chung-Ting Hsu

Full Text Available Premature infants are at high risk for developmental delay and cognitive dysfunction. Besides medical conditions, growth restriction is regarded as an important risk factor for cognitive and neurodevelopmental dysfunction throughout childhood and adolescence and even into adulthood. In this study, we analyzed the relationship between post-discharge body weight and psychomotor development using a nationwide dataset.This was a nationwide cohort study conducted in Taiwan. Total of 1791 premature infants born between 2007 and 2011 with a birth weight of less than 1500 g were enrolled into this multi-center study. The data were obtained from the Taiwan Premature Infant Developmental Collaborative Study Group. The growth and neurodevelopmental evaluations were performed at corrected ages of 6, 12 and 24 months. Post-discharge failure to thrive was defined as a body weight below the 3rd percentile of the standard growth curve for Taiwanese children by the corrected age.The prevalence of failure to thrive was 15.8%, 16.9%, and 12.0% at corrected ages of 6, 12, and 24 months, respectively. At corrected ages of 24 months, 12.9% had low Mental Developmental Index (MDI scores (MDI<70, 17.8% had low Psychomotor Developmental Index (PDI scores (PDI<70, 12.7% had cerebral palsy, and 29.5% had neurodevelopmental impairment. Post-discharge failure to thrive was significantly associated with poor neurodevelopmental outcomes. After controlling for potential confounding factors (small for gestational age, extra-uterine growth retardation at discharge, cerebral palsy, gender, mild intraventricular hemorrhage, persistent pulmonary hypertension of newborn, respiratory distress syndrome, chronic lung disease, hemodynamic significant patent ductus arteriosus, necrotizing enterocolitis, surfactant use and indomethacin use, post-discharge failure to thrive remained a risk factor.This observational study observed the association between lower body weight at corrected age

Preschool Neurodevelopmental Outcomes in Children with Congenital Heart Disease.

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Brosig, Cheryl L; Bear, Laurel; Allen, Sydney; Hoffmann, Raymond G; Pan, Amy; Frommelt, Michele; Mussatto, Kathleen A

2017-04-01

To describe preschool neurodevelopmental outcomes of children with complex congenital heart disease (CHD), who were evaluated as part of a longitudinal cardiac neurodevelopmental follow-up program, as recommended by the American Heart Association and the American Academy of Pediatrics, and identify predictors of neurodevelopmental outcomes in these children. Children with CHD meeting the American Heart Association/American Academy of Pediatrics high-risk criteria for neurodevelopmental delay were evaluated at 4-5 years of age. Testing included standardized neuropsychological measures. Parents completed measures of child functioning. Scores were compared by group (single ventricle [1V]; 2 ventricles [2V]; CHD plus known genetic condition) to test norms and classified as: normal (within 1 SD of mean); at risk (1-2 SD from mean); and impaired (>2 SD from mean). Data on 102 patients were analyzed. Neurodevelopmental scores did not differ based on cardiac anatomy (1V vs 2V); both groups scored lower than norms on fine motor and adaptive behavior skills, but were within 1 SD of norms. Patients with genetic conditions scored significantly worse than 1V and 2V groups and test norms on most measures. Children with CHD and genetic conditions are at greatest neurodevelopmental risk. Deficits in children with CHD without genetic conditions were mild and may not be detected without formal longitudinal testing. Parents and providers need additional education regarding the importance of developmental follow-up for children with CHD. Copyright © 2016 Elsevier Inc. All rights reserved.

Neurodevelopmental outcome of infantile spasms: A systematic review and meta-analysis.

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Widjaja, Elysa; Go, Cristina; McCoy, Blathnaid; Snead, O Carter

2015-01-01

The aims of this systematic review and meta-analysis were to assess (i) estimates of good neurodevelopmental outcome in infantile spasms (IS), (ii) if neurodevelopmental outcome has changed since the publication of the first guideline on medical treatment of IS in 2004 and (iii) effect of lead time to treatment (LTTT). The Medline, Embase, Cochrane, PsycINFO, Web of Science and Scopus databases, and reference lists of retrieved articles were searched. Studies inclusion criteria were: (i) >5 patients with IS, (ii) mean/median follow-up of >6 months, (iii) neurodevelopmental outcome, and (iv) randomized and observational studies. The data extracted included proportion of good neurodevelopmental outcome, year of publication, cryptogenic or symptomatic IS and LTTT. Of the 1436 citations screened, 55 articles were included in final analysis, with a total of 2967 patients. The pooled estimate for good neurodevelopmental outcome was 0.236 (95% CI: 0.193-0.286). There was no difference between the proportions of good neurodevelopmental outcome for the 21 studies published after 2004 [0.264 (95% CI: 0.197-0.344)] compared to the 34 studies published before 2004 [0.220 (95% CI: 0.168-0.283)] (Q value=0.862, p=0.353). The pooled estimate of good neurodevelopmental outcome for cryptogenic IS [0.543 (95% CI: 0.458-0.625)] was higher than symptomatic IS [0.125 (95% CI: 0.09-0.171)] (Q value=69.724, p4weeks for good neurodevelopmental outcome of 8 studies was 1.519 (95% CI: 1.064-2.169). Neurodevelopmental outcome was overall poor in patients with IS and has not changed since the publication of first guideline on IS. Although cryptogenic IS has better prognosis than symptomatic IS, the outcome for cryptogenic IS remained poor. There was heterogeneity in neurodevelopmental outcome ascertainment methods, highlighting the need for a more standardized and comprehensive assessment of cognitive, behavioural, emotional and functional outcomes. Copyright © 2014 Elsevier B.V. All rights

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

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Li, Xiuhong; Eiden, Rina D.; Epstein, Leonard H.; Shenassa, Edmond D.; Xie, Chuanbo; Wen, Xiaozhong

2016-01-01

Objectives 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. Methods 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. Results 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. Conclusions 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. PMID:27501456

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.

Estimating the economic cost of disability in Ireland

OpenAIRE

Cullinan, John; Gannon, Brenda; Lyons, Seán

2008-01-01

Addressing the extra economic costs of disability seems a logical step towards alleviating elements of social exclusion for people with disabilities. This paper estimates the economic cost of disability in Ireland in terms of the additional spending needs that arise due to disability. It defines and estimates models of the private costs borne by families with individuals who have a disability in Ireland when compared to the wider population, both in general and by severity of illness. Our mod...

Facts about Developmental Disabilities

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... play, learn, speak, behave, and move (for example, crawling and walking). Children develop at their own pace, ... person’s lifetime. Most developmental disabilities begin before a baby is born, but some can happen after birth ...

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...

Pediatric AIDS. Neuroradiologic and neurodevelopmental findings

Energy Technology Data Exchange (ETDEWEB)

Price, D.B.; Haller, J.O.; Kramer, J.; Hotson, G.C.; Loh, J.P.; Schlusselberg, D.; Inglese, C.M.; Jacobs, J.; Rose, A.L.; Menez-Bautista, R.

1988-09-01

A group of 23 pediatric patients seropositive for HIV antibody were studied by computed tomography and evaluated neurodevelopmentally. Significant neurodevelopmental delays were found in over 95% of the patients studied. CT findings in six patients were normal and thirteen of 23 (57%) had prominence of the CSF spaces. Less frequent findings included calcifications in the basal ganglia and white matter. Cerebral mass lesions included one case of lymphoma and one case of hemorrhage. The CT findings in the pediatric age group differs from the adult population in that that contrast enhancing inflammatory mass lesions are uncommon.

GABAergic circuit dysfunctions in neurodevelopmental disorders

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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.

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

NARCIS (Netherlands)

Schuurs-Hoeijmakers, J.H.M.; Silfhout, A.T. van; Vissers, L.E.L.M.; Vondervoort, I.I.G.M. van de; Bon, B.W.M. van; Ligt, J. de; Gilissen, C.F.; Hehir-Kwa, J.Y.; Neveling, K.; Rosario, M. del; Hira, G.; Reitano, S.; Vitello, A.; Failla, P.; Greco, D.; Fichera, M.; Galesi, O.; Kleefstra, T.; Greally, M.T.; Ockeloen, C.W.; Willemsen, M.H.; Bongers, E.M.; Janssen, I.M.; Pfundt, R.P.; Veltman, J.A.; Romano, C; Willemsen, M.A.; Bokhoven, H. van; Brunner, H.G.; Vries, L.B.A. de; Brouwer, A.P. de

2013-01-01

BACKGROUND: Intellectual disability (ID) is a common neurodevelopmental disorder affecting 1-3% of the general population. Mutations in more than 10% of all human genes are considered to be involved in this disorder, although the majority of these genes are still unknown. OBJECTIVES: We investigated

ASSESSMENT OF NEURODEVELOPMENTAL OUTCOMES IN INFANTS 6-12 MONTHS OF AGE ACCORDING TO IMPACT OF PERINATAL RISK FACTORS.

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Tskimanauri, N; Khachapuridze, N; Imnadze, P; Chanadiri, T; Bakhtadze, S

2017-12-01

The purpose of this research was to investigate the developmental follow-up of infants (at age of 6 month and 12 month), exposed to separate and combination impact of perinatal risk factors, compared with not exposed cases, within the prospective cohort study. Between January 2015 and January 2017, in this research we prospectively enrolled 1018 live-born infants from the medical reports of the participating clinics in Tbilisi (capital of Republic of Georgia) and Mtskheta, Dusheti (districts of Georgia). Within postnatal follow-up, the children from whole population were assessed at 6 and 12 months of age by family doctors using the Denver Developmental Screening Test (Denver II). The association between the risk factors and neurodevelopmental outcomes was analyzed by Chi-square test of independence. Statistical analysis of these data was performed using the SPSS version 12. (SPSS Inc., Chicago, IL). A P value of less than 0.05 was considered as significant. Prevalence of abnormal development in whole population was revealed 9.0% or 92 cases at age of 6 month and 36 cases or 3.5% at age of 12 month. Point prevalence of farther neurodevelopmental adversities for healthy born children not influenced by studied risk factors was 0.1% and for infants with impact of the risk factors - 1.5%; on the other hand, prevalence of observed abnormal development in infant's population who had neonatal pathologies was 2.3% if risk factors were not exposed and 21.6% under influence of risk factors. Statistical analysis showed that an abnormal developmental outcomes were more frequent when researched risk factors were exposed (OR-23.18, CI 95% - 11.83 to 45.41 - at age of 6 month; OR - 26.12, CI 95% - 7.95 to 85.85 - at age of 12 month) as well, as correlation of these risk factors with neurodevelopmental adverse outcomes was significant (prisk factors, such as maternal age (35Y), pathologies of pregnancy and delivery as well as gestation age (risk factors increased probability of

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.

Long-term neurodevelopmental outcome after selective feticide in monochorionic pregnancies.

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van Klink, Jmm; Koopman, H M; Middeldorp, J M; Klumper, F J; Rijken, M; Oepkes, D; Lopriore, E

2015-10-01

To assess the incidence of and risk factors for adverse long-term neurodevelopmental outcome in complicated monochorionic pregnancies treated with selective feticide at our centre between 2000 and 2011. Observational cohort study. National referral centre for fetal therapy (Leiden University Medical Centre, the Netherlands). Neurodevelopmental outcome was assessed in 74 long-term survivors. Children, at least 2 years of age, underwent an assessment of neurologic, motor and cognitive development using standardised psychometric tests and the parents completed a behavioural questionnaire. A composite outcome termed neurodevelopmental impairment including cerebral palsy (GMFCS II-V), cognitive and/or motor test score of Neurodevelopmental impairment was detected in 5/74 [6.8%, 95% confidence interval (CI), 1.1-12.5] of survivors. Overall adverse outcome, including perinatal mortality or neurodevelopmental impairment was 48/131 (36.6%). In multivariate analysis, parental educational level was associated with cognitive test scores (regression coefficient B 3.9, 95% CI 1.8-6.0). Behavioural problems were reported in 10/69 (14.5%). Adverse long-term outcome in survivor twins of complicated monochorionic pregnancies treated with selective feticide appears to be more prevalent than in the general population. Cognitive test scores were associated with parental educational level. Neurodevelopmental impairment after selective feticide was detected in 5/74 (6.8%, 95% CI 1.1-12.5) of survivors. © 2015 Royal College of Obstetricians and Gynaecologists.

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

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Hög, Friederike; Dentici, Maria Lisa; Tan, Perciliz L.; Sowada, Nadine; Medeira, Ana; Gueneau, Lucie; Thiele, Holger; Kousi, Maria; Lepri, Francesca; Wenzeck, Larissa; Blumenthal, Ian; Radicioni, Antonio; Schwarzenberg, Tito Livio; Mandriani, Barbara; Fischetto, Rita; Morris-Rosendahl, Deborah J.; Altmüller, Janine; Reymond, Alexandre; Nürnberg, Peter; Merla, Giuseppe; Dallapiccola, Bruno; Katsanis, Nicholas; Cramer, Patrick; Kubisch, Christian

2015-01-01

RNA polymerase III (Pol III) synthesizes tRNAs and other small noncoding RNAs to regulate protein synthesis. Dysregulation of Pol III transcription has been linked to cancer, and germline mutations in genes encoding Pol III subunits or tRNA processing factors cause neurogenetic disorders in humans, such as hypomyelinating leukodystrophies and pontocerebellar hypoplasia. Here we describe an autosomal recessive disorder characterized by cerebellar hypoplasia and intellectual disability, as well as facial dysmorphic features, short stature, microcephaly, and dental anomalies. Whole-exome sequencing revealed biallelic missense alterations of BRF1 in three families. In support of the pathogenic potential of the discovered alleles, suppression or CRISPR-mediated deletion of brf1 in zebrafish embryos recapitulated key neurodevelopmental phenotypes; in vivo complementation showed all four candidate mutations to be pathogenic in an apparent isoform-specific context. BRF1 associates with BDP1 and TBP to form the transcription factor IIIB (TFIIIB), which recruits Pol III to target genes. We show that disease-causing mutations reduce Brf1 occupancy at tRNA target genes in Saccharomyces cerevisiae and impair cell growth. Moreover, BRF1 mutations reduce Pol III–related transcription activity in vitro. Taken together, our data show that BRF1 mutations that reduce protein activity cause neurodevelopmental anomalies, suggesting that BRF1-mediated Pol III transcription is required for normal cerebellar and cognitive development. PMID:25561519

Executive and Memory Function in Adolescents Born Very Preterm

Science.gov (United States)

Ment, Laura; Allan, Walter; Schneider, Karen; Vohr, Betty R.

2011-01-01

BACKGROUND: Many preterm children display school difficulties, which may be mediated by impairment in executive function and memory. OBJECTIVE: To evaluate executive and memory function among adolescents born preterm compared with term controls at 16 years. METHODS: A total of 337 of 437 (77%) adolescents born in 1989 to 1992 with a birth weight executive function and memory tasks. Multiple regression analyses were used to compare groups and to identify associations between selected factors and outcomes among preterm subjects. RESULTS: Adolescents born preterm, compared with term controls, showed deficits in executive function in the order of 0.4 to 0.6 SD on tasks of verbal fluency, inhibition, cognitive flexibility, planning/organization, and working memory as well as verbal and visuospatial memory. After exclusion of adolescents with neurosensory disabilities and full-scale IQ executive dysfunction, as measured with the Behavior Rating Inventory of Executive Function, on the Metacognition Index (odds ratio [OR]: 2.5 [95% confidence interval (CI): 1.2–5.1]) and the Global Executive Composite (OR: 4.2 [95% CI: 1.6–10.9]), but not on the Behavioral Regulation index (OR: 1.5 [95% CI: 0.7–3.5]). Among adolescents born preterm, severe brain injury on neonatal ultrasound and lower maternal education were the most consistent factors associated with poor outcomes. CONCLUSIONS: Even after exclusion of preterm subjects with significant disabilities, adolescents born preterm in the early 1990s were at increased risk of deficits in executive function and memory. PMID:21300680

The birth of a child with disability. Coping by parents and siblings.

Science.gov (United States)

Kandel, Isack; Merrick, Joav

2003-08-20

When a child is born, the life of the family changes significantly and each of its members must adapt to the new situation. When the child is born with a disability, in addition to regular adaptation, the family must cope with stress, grief, disappointments, and challenges, which may lead to a serious crisis or even disruption of family life. Parents must coordinate assessments, evaluations, and various treatments while maintaining contact with many professionals and numerous institutions or services. They find themselves faced with important decisions on behalf of the child, decisions on management of the child with disability, and economic decisions that will affect the whole family. This paper reviews the literature on the topic of coping when a child with disability is born and also studies the question as to whether a connection exists between parental orientation toward feelings of guilt and the family relationships system. The event of a child born with a disability is always a tragedy for the family, but early intervention and support may help the family to adjust and become positively involved in the care and development of the child, even if that child is different and in need of special treatment.

Epigenetic Etiology of Intellectual Disability.

Science.gov (United States)

Iwase, Shigeki; Bérubé, Nathalie G; Zhou, Zhaolan; Kasri, Nael Nadif; Battaglioli, Elena; Scandaglia, Marilyn; Barco, Angel

2017-11-08

Intellectual disability (ID) is a prevailing neurodevelopmental condition associated with impaired cognitive and adaptive behaviors. Many chromatin-modifying enzymes and other epigenetic regulators have been genetically associated with ID disorders (IDDs). Here we review how alterations in the function of histone modifiers, chromatin remodelers, and methyl-DNA binding proteins contribute to neurodevelopmental defects and altered brain plasticity. We also discuss how progress in human genetics has led to the generation of mouse models that unveil the molecular etiology of ID, and outline the direction in which this field is moving to identify therapeutic strategies for IDDs. Importantly, because the chromatin regulators linked to IDDs often target common downstream genes and cellular processes, the impact of research in individual syndromes goes well beyond each syndrome and can also contribute to the understanding and therapy of other IDDs. Furthermore, the investigation of these disorders helps us to understand the role of chromatin regulators in brain development, plasticity, and gene expression, thereby answering fundamental questions in neurobiology. Copyright © 2017 the authors 0270-6474/17/3710773-10$15.00/0.

Correlates of Early Assessment of Neurodevelopmental Disorders in Lebanon

Science.gov (United States)

Dirani, Leyla Akoury; Salamoun, Mariana

2014-01-01

Children with neurodevelopmental disorders who receive early therapeutic interventions present a better developmental pathway than children who do not. Early assessment of neurodevelopmental disorders is the first step in this process. This study aims at describing the variables that are in play in the first assessment of children with autism…

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

Relationship between brain function (aEEG) and brain structure (MRI) and their predictive value for neurodevelopmental outcome of preterm infants.

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Hüning, Britta; Storbeck, Tobias; Bruns, Nora; Dransfeld, Frauke; Hobrecht, Julia; Karpienski, Julia; Sirin, Selma; Schweiger, Bernd; Weiss, Christel; Felderhoff-Müser, Ursula; Müller, Hanna

2018-05-22

To improve the prediction of neurodevelopmental outcome in very preterm infants, this study used the combination of amplitude-integrated electroencephalography (aEEG) within the first 72 h of life and cranial magnetic resonance imaging (MRI) at term equivalent age. A single-center cohort of 38 infants born before 32 weeks of gestation was subjected to both investigations. Structural measurements were performed on MRI. Multiple regression analysis was used to identify independent factors including functional and structural brain measurements associated with outcome at a corrected age of 24 months. aEEG parameters significantly correlated with MRI measurements. Reduced deep gray matter volume was associated with low Burdjalov Score on day 3 (p neurodevelopmental outcome: intraventricular hemorrhage (p = 0.0060) and interhemispheric distance (p = 0.0052) for mental developmental index; Burdjalov Score day 1 (p = 0.0201) and interhemispheric distance (p = 0.0142) for psychomotor developmental index. Functional aEEG parameters were associated with altered brain maturation on MRI. The combination of aEEG and MRI contributes to the prediction of outcome at 24 months. What is Known: • Prematurity remains a risk factor for impaired neurodevelopment. • aEEG is used to measure brain activity in preterm infants and cranial MRI is performed to identify structural gray and white matter abnormalities with impact on neurodevelopmental outcome. What is New: • aEEG parameters observed within the first 72 h of life were associated with altered deep gray matter volumes, biparietal width, and transcerebellar diameter at term equivalent age. • The combination of aEEG and MRI contributes to the prediction of neurodevelopmental outcome at 2 years of corrected age in very preterm infants.

Neurodevelopmental Disorders and Environmental Toxicants: Epigenetics as an Underlying Mechanism

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2017-01-01

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. PMID:28567415

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.

Genetic controls balancing excitatory and inhibitory synaptogenesis in neurodevelopmental disorder models

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Cheryl L Gatto

2010-06-01

Full Text Available Proper brain function requires stringent balance of excitatory and inhibitory synapse formation during neural circuit assembly. Mutation of genes that normally sculpt and maintain this balance results in severe dysfunction, causing neurodevelopmental disorders including autism, epilepsy and Rett syndrome. Such mutations may result in defective architectural structuring of synaptic connections, molecular assembly of synapses and/or functional synaptogenesis. The affected genes often encode synaptic components directly, but also include regulators that secondarily mediate the synthesis or assembly of synaptic proteins. The prime example is Fragile X syndrome (FXS, the leading heritable cause of both intellectual disability and autism spectrum disorders. FXS results from loss of mRNA-binding FMRP, which regulates synaptic transcript trafficking, stability and translation in activity-dependent synaptogenesis and plasticity mechanisms. Genetic models of FXS exhibit striking excitatory and inhibitory synapse imbalance, associated with impaired cognitive and social interaction behaviors. Downstream of translation control, a number of specific synaptic proteins regulate excitatory versus inhibitory synaptogenesis, independently or combinatorially, and loss of these proteins is also linked to disrupted neurodevelopment. The current effort is to define the cascade of events linking transcription, translation and the role of specific synaptic proteins in the maintenance of excitatory versus inhibitory synapses during neural circuit formation. This focus includes mechanisms that fine-tune excitation and inhibition during the refinement of functional synaptic circuits, and later modulate this balance throughout life. The use of powerful new genetic models has begun to shed light on the mechanistic bases of excitation/inhibition imbalance for a range of neurodevelopmental disease states.

Loss-of-function of neuroplasticity-related genes confers risk for human neurodevelopmental disorders.

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Smith, Milo R; Glicksberg, Benjamin S; Li, Li; Chen, Rong; Morishita, Hirofumi; Dudley, Joel T

2018-01-01

High and increasing prevalence of neurodevelopmental disorders place enormous personal and economic burdens on society. Given the growing realization that the roots of neurodevelopmental disorders often lie in early childhood, there is an urgent need to identify childhood risk factors. Neurodevelopment is marked by periods of heightened experience-dependent neuroplasticity wherein neural circuitry is optimized by the environment. If these critical periods are disrupted, development of normal brain function can be permanently altered, leading to neurodevelopmental disorders. Here, we aim to systematically identify human variants in neuroplasticity-related genes that confer risk for neurodevelopmental disorders. Historically, this knowledge has been limited by a lack of techniques to identify genes related to neurodevelopmental plasticity in a high-throughput manner and a lack of methods to systematically identify mutations in these genes that confer risk for neurodevelopmental disorders. Using an integrative genomics approach, we determined loss-of-function (LOF) variants in putative plasticity genes, identified from transcriptional profiles of brain from mice with elevated plasticity, that were associated with neurodevelopmental disorders. From five shared differentially expressed genes found in two mouse models of juvenile-like elevated plasticity (juvenile wild-type or adult Lynx1-/- relative to adult wild-type) that were also genotyped in the Mount Sinai BioMe Biobank we identified multiple associations between LOF genes and increased risk for neurodevelopmental disorders across 10,510 patients linked to the Mount Sinai Electronic Medical Records (EMR), including epilepsy and schizophrenia. This work demonstrates a novel approach to identify neurodevelopmental risk genes and points toward a promising avenue to discover new drug targets to address the unmet therapeutic needs of neurodevelopmental disease.

NEURODEVELOPMENTAL EFFECTS OF ENVIRONMENTAL EXPOSURES

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Neurodevelopmental Effects of Environmental ExposuresSherry G. Selevan, Pauline Mendola, Deborah C. Rice (US EPA, Washington,DC) The nervous system starts development early in gestation and continues to develop through adolescence. Thus, critical windows of vuln...

Drosophila mutants of the autism candidate gene neurobeachin (rugose) exhibit neuro-developmental disorders, aberrant synaptic properties, altered locomotion, impaired adult social behavior and activity patterns

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Wise, Alexandra; Tenezaca, Luis; Fernandez, Robert W.; Schatoff, Emma; Flores, Julian; Ueda, Atsushi; Zhong, Xiaotian; Wu, Chun-Fang; Simon, Anne F.; Venkatesh, Tadmiri

2015-01-01

Autism spectrum disorder (ASD) is a neurodevelopmental disorder in humans characterized by complex behavioral deficits, including intellectual disability, impaired social interactions and hyperactivity. ASD exhibits a strong genetic component with underlying multi-gene interactions. Candidate gene studies have shown that the neurobeachin gene is disrupted in human patients with idiopathic autism (Castermans et al., 2003). The gene for neurobeachin (NBEA) spans the common fragile site FRA 13A ...

The Baby Moves prospective cohort study protocol: using a smartphone application with the General Movements Assessment to predict neurodevelopmental outcomes at age 2 years for extremely preterm or extremely low birthweight infants.

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Spittle, A J; Olsen, J; Kwong, A; Doyle, L W; Marschik, P B; Einspieler, C; Cheong, Jly

2016-10-03

Infants born extremely preterm (EP; smartphone application (app) developed for caregivers to video and upload their infant's general movements to be scored remotely by a certified GMA assessor. The aim of this study is to determine the predictive ability of using the GMA via the Baby Moves app for neurodevelopmental impairment in infants born EP/ELBW. This prospective cohort study will recruit infants born EP/ELBW across the state of Victoria, Australia in 2016 and 2017. A control group of normal birth weight (>2500 g birth weight), term-born (≥37 weeks' gestation) infants will also be recruited as a local reference group. Parents will video their infant's general movements at two time points between 3 and 4 months' corrected age using the Baby Moves app. Videos will be scored by certified GMA assessors and classified as normal or abnormal. Parental satisfaction using the Baby Moves app will be assessed via survey. Neurodevelopmental outcome at 2 years' corrected age includes developmental delay according to the Bayley Scales of Infant and Toddler Development-III and cerebral palsy diagnosis. This study was approved by the Human Research and Ethics Committees at the Royal Children's Hospital, The Royal Women's Hospital, Monash Health and Mercy Health in Melbourne, Australia. Study findings will be disseminated via peer-reviewed publications and conference presentations. 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/.

Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case.

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Thurm, Audrey; Himelstein, Daniel; DʼSouza, Precilla; Rennert, Owen; Jiang, Susanqi; Olatunji, Damilola; Longo, Nicola; Pasquali, Marzia; Swedo, Susan; Salomons, Gajja S; Carrillo, Nuria

2016-05-01

Creatine transporter deficiency (CTD) is an X-linked, neurometabolic disorder associated with intellectual disability that is characterized by brain creatine (Cr) deficiency and caused by mutations in SLC6A8, the Cr transporter 1 protein gene. CTD is identified by elevated urine creatine/creatinine (Cr/Crn) ratio or reduced Cr peak on brain magnetic resonance spectroscopy; the diagnosis is confirmed by decreased Cr uptake in cultured fibroblasts, and/or identification of a mutation in the SLC6A8 gene. Prevalence studies suggest this disorder may be underdiagnosed. We sought to identify cases from a well-characterized cohort of children diagnosed with neurodevelopmental disorders. Urine screening for CTD was performed on a cohort of 46 males with autism spectrum disorder (ASD) and 9 males with a history of non-ASD developmental delay (DD) classified with intellectual disability. We identified 1 patient with CTD in the cohort based on abnormal urine Cr/Crn, and confirmed the diagnosis by the identification of a novel frameshift mutation in the SLC6A8 gene. This patient presented without ASD but with intellectual disability, and was characterized by a nonspecific phenotype of early language delay and DD that persisted into moderate-to-severe intellectual disability, consistent with previous descriptions of CTD. Identification of patients with CTD is possible by measuring urine Cr and Crn levels and the current case adds to the growing literature of neurocognitive deficits associated with the disorder that affect cognition, language and behavior in childhood.

Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents.

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Houcinat, N; Llanas, B; Moutton, S; Toutain, J; Cailley, D; Arveiler, B; Combe, C; Lacombe, D; Rooryck, C

2015-11-01

The use of array-comparative genomic hybridization (array-CGH) in routine clinical work has allowed the identification of many new copy number variations (CNV). The 16p13.11 duplication has been implicated in various congenital anomalies and neurodevelopmental disorders, but it has also been identified in healthy individuals. We report a clinical observation of two brothers from related parents each carrying a homozygous 16p13.11 duplication. The propositus had mild intellectual disability and posterior urethral valves with chronic renal disease. His brother was considered a healthy child with only learning disabilities and poor academic performances. However, a routine medical examination at 25-years-old revealed a mild chronic renal disease and ureteropelvic junction obstruction. Furthermore, the father presented with a unilateral renal agenesis, thus it seemed that a "congenital anomalies of kidney and urinary tract" (CAKUT) phenotype segregated in this family. This may be related to the duplication, but we cannot exclude the involvement of additional genetic or non-genetic factors in the urological phenotype. Several cohort studies showed association between this chromosomal imbalance and different clinical manifestations, but rarely with CAKUT. The duplication reported here was similar to the larger one of 3.4 Mb previously described versus the more common of 1.6 Mb. It encompassed at least 11 known genes, including the five ohnologs previously identified. Our observation, in addition to expanding the clinical spectrum of the duplication provides further support to understanding the underlying pathogenic mechanism. © 2015 Wiley Periodicals, Inc.

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.

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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 �

[Autism: An early neurodevelopmental disorder].

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Bonnet-Brilhault, F

2017-04-01

With approximately 67 million individuals affected worldwide, autism spectrum disorder (ASD) is the fastest growing neurodevelopmental disorder (United Nations, 2011), with a prevalence estimated to be 1/100. In France ASD affects approximately 600,000 individuals (from childhood to adulthood, half of whom are also mentally retarded), who thus have a major handicap in communication and in adapting to daily life, which leads autism to be recognized as a national public health priority. ASD is a neurodevelopmental disorder that affects several domains (i.e., socio-emotional, language, sensori-motor, executive functioning). These disorders are expressed early in life with an age of onset around 18 months. Despite evidence suggesting a strong genetic link with ASD, the genetic determinant remains unclear. The clinical picture is characterized by impairments in social interaction and communication and the presence of restrictive and repetitive behaviors (DSM-5, ICD-10). However, in addition to these two main dimensions there is significant comorbidity between ASD and other neurodevelopmental disorders such as attention deficit hyperactivity disorder or with genetic and medical conditions. One of the diagnostic features of ASD is its early emergence: symptoms must begin in early childhood for a diagnosis to be given. Due to brain plasticity, early interventions are essential to facilitate clinical improvement. Therefore, general practitioners and pediatricians are on the front line to detect early signs of ASD and to guide both medical explorations and early rehabilitation. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Neurodevelopmental risk factors in schizophrenia

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Lobato M.I.

2001-01-01

Full Text Available The authors review environmental and neurodevelopmental risk factors for schizophrenic disorders, with emphasis on minor physical anomalies, particularly craniofacial anomalies and dermatoglyphic variations. The high prevalence of these anomalies among schizophrenic subjects supports the neurodevelopmental theory of the etiology of schizophrenia, since they suggest either genetically or epigenetically controlled faulty embryonic development of structures of ectodermal origin like brain and skin. This may disturb neurodevelopment that in turn may cause these subjects to be at increased risk for the development of schizophrenia and related disorders. The precise confirmation of this theory, at least in some cases, will provide further understanding of these illnesses, allowing easy and inexpensive identification of subjects at risk and providing guidelines for the development of new pharmacological interventions for early treatment and even for primary prevention of the illness.

Children with intellectual disability in rural South Africa: prevalence and associated disability.

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Christianson, A L; Zwane, M E; Manga, P; Rosen, E; Venter, A; Downs, D; Kromberg, J G R

2002-02-01

The objective of the present study was to determine the prevalence of intellectual disability (ID) and its associated disabilities in rural South African children aged 2-9 years. It was undertaken in eight villages in the district of Bushbuckridge, Northern Province, South Africa. A two-phase design was utilized. The first phase involved screening children on a house-to-house basis by interviewing mothers or caregivers using an internationally validated questionnaire for detecting childhood disability in developing countries. The second phase consisted of a paediatric/neurodevelopmental assessment of the children who screened positive. A total of 6692 children were screened; 722 (10.8%) had a paediatric evaluation and 238 children were diagnosed with ID, giving a minimum observed prevalence of 35.6 per 1000 children in this population. The prevalence of severe and mild ID was 0.64 per 1000 and 29.1 per 1000 children, respectively. The male:female ratio of children with ID was 3:2. In the affected children, a congenital aetiology for the ID was determined in 49 subjects (20.6%), an acquired aetiology in 15 (6.3%) and the aetiology was undetermined in 174 children (73.1%). Epilepsy (15.5%) and cerebral palsy (8.4%) were the commonest associated disabilities. The present study represents the first data on the prevalence of ID and associated disabilities in rural South African children. The prevalence of ID was comparable with results from a study performed in one other African country (Zambia) as well as those from other developing countries. The data provide an initial factual insight into ID and its associated disabilities for healthcare, social service and educational policy planners. This study provides a basis for the initiation and development of appropriate and integrated services for the best possible care of individuals affected with these disabilities, and for their possible prevention.

Nonverbal learning disabilities and developmental dyscalculia: Differential diagnosis of two Brazilian children

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Magda Solange Vanzo Pestun

Full Text Available Nonverbal learning disabilities (NVLD, a clinical condition still little reported in Brazil, are characterized by damages in the visual spatial domains, visual motor integration, fine motor skills, math skills and social and emotional difficulties. Developmental Dyscalculia (DD is a neurodevelopmental disorder that affects basic arithmetic skills acquisition, including storage and recovery of arithmetic facts, calculation fluency and precision and number sense domain. Although both are persistent Math learning disorder/disability, they cause different damages. The objective of this case report is to describe, compare and analyze the neuropsychological profile of two Brazilian children with similar complaints but distinct diagnosis.

Assessing neurodevelopmental effects of arsenolipids in pre-differentiated human neurons.

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Witt, Barbara; Ebert, Franziska; Meyer, Sören; Francesconi, Kevin A; Schwerdtle, Tanja

2017-11-01

In the general population exposure to arsenic occurs mainly via diet. Highest arsenic concentrations are found in seafood, where arsenic is present predominantly in its organic forms including arsenolipids. Since recent studies have provided evidence that arsenolipids could reach the brain of an organism and exert toxicity in fully differentiated human neurons, this work aims to assess the neurodevelopmental toxicity of arsenolipids. Neurodevelopmental effects of three arsenic-containing hydrocarbons (AsHC), two arsenic-containing fatty acids (AsFA), arsenite and dimethylarsinic acid (DMA V ) were characterized in pre-differentiated human neurons. AsHCs and arsenite caused substantial cytotoxicity in a similar, low concentration range, whereas AsFAs and DMA V were less toxic. AsHCs were highly accessible for cells and exerted pronounced neurodevelopmental effects, with neurite outgrowth and the mitochondrial membrane potential being sensitive endpoints; arsenite did not substantially decrease those two endpoints. In fully differentiated neurons, arsenite and AsHCs caused neurite toxicity. These results indicate for a neurodevelopmental potential of AsHCs. Taken into account the possibility that AsHCs might easily reach the developing brain when exposed during early life, neurotoxicity and neurodevelopmental toxicity cannot be excluded. Further studies are needed in order to progress the urgently needed risk assessment. © 2017 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Learning disabilities among extremely preterm children without neurosensory impairment: Comorbidity, neuropsychological profiles and scholastic outcomes.

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Johnson, Samantha; Strauss, Victoria; Gilmore, Camilla; Jaekel, Julia; Marlow, Neil; Wolke, Dieter

2016-12-01

Children born extremely preterm are at high risk for intellectual disability, learning disabilities, executive dysfunction and special educational needs, but little is understood about the comorbidity of intellectual and learning disabilities in this population. This study explored comorbidity in intellectual disability (ID) and learning disabilities (LD) in children born extremely preterm (EP; disabilities. LD were associated with a 3 times increased risk for SEN. However, EP children with ID alone had poorer neuropsychological abilities and curriculum-based attainment than children with no disabilities, yet there was no increase in SEN provision among this group. EP children are at high risk for comorbid intellectual and learning disabilities. Education professionals should be aware of the complex nature of EP children's difficulties and the need for multi-domain assessments to guide intervention. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Which neurodevelopmental disorders get researched and why?

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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.

The neurobiology of psychopathy: a neurodevelopmental perspective.

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Gao, Yu; Glenn, Andrea L; Schug, Robert A; Yang, Yaling; Raine, Adrian

2009-12-01

We provide an overview of the neurobiological underpinnings of psychopathy. Cognitive and affective-emotional processing deficits are associated with abnormal brain structure and function, particularly the amygdala and orbitofrontal cortex. There is limited evidence of lower cortisol levels being associated with psychopathic personality. Initial developmental research is beginning to suggest that these neurobiological processes may have their origins early in life. Findings suggest that psychopathic personality may, in part, have a neurodevelopmental basis. Future longitudinal studies delineating neurobiological correlates of the analogues of interpersonal-affective and antisocial features of psychopathy in children are needed to further substantiate a neurodevelopmental hypothesis of psychopathy.

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

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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.

The Right to Live--Disability Is Not a Crime.

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Blumberg, Lisa

1984-01-01

A physically disabled individual shares her horror at decisions of parents and doctors to deny medical treatment to handicapped infants. She avers that every child is born with a mix of talents and shortcomings, some more marked than others, and that disability should not be punished. (CL)

Post-discharge body weight and neurodevelopmental outcomes among very low birth weight infants in Taiwan: A nationwide cohort study

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Hsu, Chung-Ting; Chen, Chao-Huei; Wang, Teh-Ming; Hsu, Ya-Chi

2018-01-01

Background Premature infants are at high risk for developmental delay and cognitive dysfunction. Besides medical conditions, growth restriction is regarded as an important risk factor for cognitive and neurodevelopmental dysfunction throughout childhood and adolescence and even into adulthood. In this study, we analyzed the relationship between post-discharge body weight and psychomotor development using a nationwide dataset. Materials and methods This was a nationwide cohort study conducted in Taiwan. Total of 1791 premature infants born between 2007 and 2011 with a birth weight of less than 1500 g were enrolled into this multi-center study. The data were obtained from the Taiwan Premature Infant Developmental Collaborative Study Group. The growth and neurodevelopmental evaluations were performed at corrected ages of 6, 12 and 24 months. Post-discharge failure to thrive was defined as a body weight below the 3rd percentile of the standard growth curve for Taiwanese children by the corrected age. Results The prevalence of failure to thrive was 15.8%, 16.9%, and 12.0% at corrected ages of 6, 12, and 24 months, respectively. At corrected ages of 24 months, 12.9% had low Mental Developmental Index (MDI) scores (MDIneurodevelopmental impairment. Post-discharge failure to thrive was significantly associated with poor neurodevelopmental outcomes. After controlling for potential confounding factors (small for gestational age, extra-uterine growth retardation at discharge, cerebral palsy, gender, mild intraventricular hemorrhage, persistent pulmonary hypertension of newborn, respiratory distress syndrome, chronic lung disease, hemodynamic significant patent ductus arteriosus, necrotizing enterocolitis, surfactant use and indomethacin use), post-discharge failure to thrive remained a risk factor. Conclusion This observational study observed the association between lower body weight at corrected age of 6, 12, and 24 months and poor neurodevelopmental outcomes among VLBW

Improving Neurodevelopmental Surveillance and Follow-up in Infants with Congenital Heart Disease.

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Michael, Mark; Scharf, Rebecca; Letzkus, Lisa; Vergales, Jeffrey

2016-01-01

We hypothesize that neurodevelopmental surveillance of targeted patients with congenital heart disease during the admission for their cardiac surgery would improve neurodevelopmental assessment and outpatient follow-up rates. All patients under 12 months of age who were operated on between October 2013 and October 2014 and were considered at risk for neurodevelopmental delay in accordance with the 2012 American Heart Association Scientific Statement were included. A protocol was implemented to increase surveillance of targeted patients during the hospitalization for their cardiac surgery. A historical control cohort was used from a 6-month period that preceded initiation of the program from July 2012 to December 2012. Univariate analysis assessed the effects of patient demographics, anatomy, postoperative course, and distance from clinic on inpatient screening and follow-up to evaluate areas for future improvement. Neurodevelopmental surveillance in the post-protocol period increased from 21% to 82% (P neurodevelopmental surveillance of high risk patients. Individuals that were younger and in the hospital longer were more likely to be successfully seen and comply with outpatient follow-up than those not receiving inpatient risk assessment. Patients with single ventricle anatomy may benefit from a modified follow-up schedule to improve compliance rates. Travel distance has no effect on likelihood of outpatient cardiac neurodevelopmental follow-up. © 2016 Wiley Periodicals, Inc.

Developmental trajectories of attention and executive functioning in infants born preterm: The influence of perinatal risk factors and maternal interactive styles

NARCIS (Netherlands)

van de Weijer-Bergsma, E.

2009-01-01

Infants born preterm (born before 37 weeks of gestation) are at a heightened risk for developmental delay and learning disabilities. Even children born preterm who have intellectual abilities within the normal range at school age often require special educational services. The preterm population is

Outcomes and related factors in a cohort of infants born in Taiwan over a period of five years (2007–2011 with borderline viability

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Jui-Hsing Chang

2018-05-01

Full Text Available Background: Advances in perinatal and neonatal care have increased the survival of extremely preterm infants, but the viability limit is still debated. Here we assess the survival, neonatal morbidity, and neurodevelopmental outcomes at 2 years of age of infants born at 22–26 weeks of gestation in Taiwan between 2007 and 2011. Methods: This is a prospective longitudinal multicenter cohort study on extremely preterm infants registered in the Taiwan Premature Infant Developmental Collaborative Study Group from 2007 to 2011, including 22 neonatal care centers. We extracted demographic and clinical data of infants born at 22–26 weeks, and obtained growth and developmental outcome data from the follow-up clinic at 24 months of corrected age. Multivariate analyses using a logistic regression model identified factors significantly impacting survival. Results: 647 of the 1098 infants included in the study (58.9% survived to discharge. Survival rates were 8% (4/50, 25% (27/108, 46.8% (117/250, 67.0% (211/315, and 76.8% (288/375 for infants born at 22, 23, 24, 25, and 26 weeks, respectively. Most survivors (567/647, 87.6% had major morbidities during hospitalization, and we identified factors that positively and negatively affected survival. 514 (79.4% patients received follow-up evaluation at 2 years, and 204 (39.7% of them had neurodevelopmental impairment (NDI with an incidence of 75%, 65.2%, 49.5%, 39.5%, and 32.8% for infants born at 22, 23, 24, 25, and 26 weeks, respectively. Conclusion: Infants born at 22 and 23 weeks have a very low likelihood of surviving with little or no impairment. These findings are valuable for parental counseling and perinatal care decisions. Keywords: Extremely preterm, Morbidity, Mortality, Outcomes

Maternal thyroid hormone insufficiency during pregnancy and risk of neurodevelopmental disorders in offspring: A systematic review and meta-analysis.

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Thompson, William; Russell, Ginny; Baragwanath, Genevieve; Matthews, Justin; Vaidya, Bijay; Thompson-Coon, Jo

2018-04-01

In the last 2 decades, several studies have examined the association between maternal thyroid hormone insufficiency during pregnancy and neurodevelopmental disorders in children and shown conflicting results. This systematic review aimed to assess the evidence for an association between maternal thyroid hormone insufficiency during pregnancy and neurodevelopmental disorders in children. We also sought to assess whether levothyroxine treatment for maternal thyroid hormone insufficiency improves child neurodevelopment outcomes. We performed systematic literature searches in MEDLINE, EMBASE, PSYCinfo, CINAHL, AMED, BNI, Cochrane, Scopus, Web of Science, GreyLit, Grey Source and Open Grey (latest search: March 2017). We also conducted targeted web searching and performed forwards and backwards citation chasing. Meta-analyses of eligible studies were carried out using the random-effects model. We identified 39 eligible articles (37 observational studies and 2 randomized controlled trials [RCT]). Meta-analysis showed that maternal subclinical hypothyroidism and hypothyroxinaemia are associated with indicators of intellectual disability in offspring (odds ratio [OR] 2.14, 95% confidence interval [CI] 1.20 to 3.83, P = .01, and OR 1.63, 95% CI 1.03 to 2.56, P = .04, respectively). Maternal subclinical hypothyroidism and hypothyroxinaemia were not associated with attention deficit hyperactivity disorder, and their effect on the risk of autism in offspring was unclear. Meta-analysis of RCTs showed no evidence that levothyroxine treatment for maternal hypothyroxinaemia or subclinical hypothyroidism reduces the incidence of low intelligence quotient in offspring. Although studies were generally of good quality, there was evidence of heterogeneity between the included observational studies (I 2 72%-79%). Maternal hypothyroxinaemia and subclinical hypothyroidism may be associated with intellectual disability in offspring. Currently, there is no evidence that levothyroxine

Temporal changes in the incidence of treated psychiatric and neurodevelopmental disorders during adolescence: an analysis of two national Finnish birth cohorts.

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Gyllenberg, David; Marttila, Mikko; Sund, Reijo; Jokiranta-Olkoniemi, Elina; Sourander, André; Gissler, Mika; Ristikari, Tiina

2018-03-01

Comprehensive overviews of the temporal changes in treated psychiatric and neurodevelopmental disorders during adolescence are scarce. We reviewed data from two national cohorts, 10 years apart, to establish the change in use of specialised services for psychiatric and neurodevelopmental diagnoses in Finland. We compared the nationwide register-based incidence of psychiatric and neurodevelopmental diagnoses between the 12th birthday and 18th birthday of adolescents born in Finland in 1987 and 1997. Adolescents who emigrated or died before their 12th birthday and those with missing covariate data were excluded, as were those who, when aged 11 years, had lived in a municipality belonging to a hospital district with obviously incomplete data reports during any follow-up years in our study. Our primary outcomes were time to incident specialised service use for any psychiatric or neurodevelopmental disorder and for 17 specific diagnostic classes. We also investigated whether adolescents who died by suicide had accessed specialised services before their deaths. The cumulative incidence of psychiatric or neurodevelopmental disorders increased from 9·8 in the 1987 cohort to 14·9 in the 1997 cohort (difference 5·2 percentage points [95% CI 4·8-5·5]) among girls, and from 6·2 in the 1987 cohort to 8·8 in the 1997 (2·6 percentage points [2·4-2·9]) among boys. The hazard ratio for the overall relative increase in neurodevelopment and psychiatric disorders in the 1997 cohort compared with the 1987 cohort was 1·6 (95% CI 1·5-1·8) among girls and 1·5 (1·4-1·6) among boys. Of the studied diagnostic classes, we noted significant (ie, pneurodevelopmental disorders points to the need to deliver effective treatment to a rapidly increased patient population, whereas the relative increase in specific diagnoses should inform clinical practice. Despite increasing service use, identification of adolescents at risk of suicide remains a major public health priority. Academy

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

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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,…

Epigenetics as a basis for diagnosis of neurodevelopmental disorders: challenges and opportunities.

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Kubota, Takeo; Miyake, Kunio; Hariya, Natsuyo; Mochizuki, Kazuki

2014-07-01

Neurodevelopmental disorders, such as autism, are complex entities that can be caused by biological and social factors. In a subset of patients with congenital neurodevelopmental disorders, clear diagnosis can be achieved using DNA sequence-based analysis to identify changes in the DNA sequence (genetic variation). However, it has recently become clear that changes to the secondary modifications of DNA and histone structures (epigenetic variation) can also cause neurodevelopmental disorders via alteration of neural gene function. Moreover, it has recently been demonstrated that epigenetic modifications are more susceptible to alterations induced by environmental factors than are DNA sequences, and that some drugs commonly used reverse mental-stress induced alterations to histone modifications in neural genes. Therefore, application of diagnostic assays to detect epigenetic alterations will provide new insight into the characterization and treatment of neurodevelopmental disorders.

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

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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.

Predicting additional care in young children with neurodevelopmental disability: a systematic literature review

NARCIS (Netherlands)

Meester-Delver, Anke; Beelen, Anita; Hennekam, Raoul; Hadders-Algra, Mijna; Nollet, Frans

2006-01-01

Children with developmental disabilities often show a variety of associated impairments that lead to a lifelong need for additional care. Careful assessment of these impairments is required not only for diagnostic purposes but also to inform the parents about the expected additional care needs in

Tourette syndrome and learning disabilities

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Klug Marilyn G

2005-09-01

Full Text Available Abstract Background Tourette Syndrome (TS is a neurodevelopmental disorder of childhood. Learning disabilities are frequently comorbid with TS. Using the largest sample of TS patients ever reported, we sought to identify differences between subjects with TS only and subjects with TS and a comorbid learning disability. Methods We used the Tourette Syndrome International Consortium database (TIC to compare subjects with comorbid Tourette Syndrome and learning disabilities (TS + LD to subjects who did not have a comorbid learning disability (TS - LD. The TIC database contained 5,500 subjects. We had usable data on 5,450 subjects. Results We found 1,235 subjects with TS + LD. Significant differences between the TS + LD group and the TS - LD group were found for gender (.001, age onset (.030, age first seen (.001, age at diagnosis (.001, prenatal problems (.001, sibling or other family member with tics (.024, two or more affected family members (.009, and severe tics (.046. We used logistic modeling to identify the optimal prediction model of group membership. This resulted in a five variable model with the epidemiologic performance characteristics of accuracy 65.2% (model correctly classified 4,406 of 5,450 subjects, sensitivity 66.1%, and specificity 62.2%. Conclusion Subjects with TS have high prevalence rates of comorbid learning disabilities. We identified phenotype differences between the TS - LD group compared to TS + LD group. In the evaluation of subjects with TS, the presence of a learning disability should always be a consideration. ADHD may be an important comorbid condition in the diagnosis of LD or may also be a potential confounder. Further research on etiology, course and response to intervention for subjects with TS only and TS with learning disabilities is needed.

Psychosocial outcomes in adult men born with hypospadias: A register-based study.

Directory of Open Access Journals (Sweden)

Anna Skarin Nordenvall

Full Text Available In this nationwide matched cohort study, we have investigated whether being born with hypospadias affect subsequent psychosocial outcomes in adulthood. We analyzed prospectively collected data from national Swedish registers. Data on the diagnoses were collected from the National Patient Register and the Medical Birth Register. Data on psychosocial outcomes such as educational and income level, marital status and disability pension were collected from Statistics Sweden. The effects of covariates, such as age, county of birth, presence of other malformations and psychiatric illness, were taken into account. The associations between hypospadias and psychosocial outcomes were calculated using conditional logistic regression and expressed as odds ratios (OR and 95% confidence intervals (CI. We included 4378 men diagnosed with hypospadias, born between 1969 and 1993 in Sweden. Patients with hypospadias were matched with unaffected men by year of birth and birth county. We did not detect any differences in educational or income level. The probability of entering marriage (OR 1.02, 95% CI 0.90-1.14 did not differ, regardless of phenotype. We did, however, detect a 40% increased probability of receiving a disability pension, (OR 1.39, 95% CI 1.20-1.61. In conclusion, men born with hypospadias in Sweden do not differ from unaffected men with respect to the majority of psychosocial outcomes studied. They are, however, at increased risk of receiving a disability pension, which motivates further investigations.

Hotspots of missense mutation identify novel neurodevelopmental disorder genes and functional domains

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Geisheker, Madeleine R.; Heymann, Gabriel; Wang, Tianyun; Coe, Bradley P.; Turner, Tychele N.; Stessman, Holly A.F.; Hoekzema, Kendra; Kvarnung, Malin; Shaw, Marie; Friend, Kathryn; Liebelt, Jan; Barnett, Christopher; Thompson, Elizabeth M.; Haan, Eric; Guo, Hui; Anderlid, Britt-Marie; Nordgren, Ann; Lindstrand, Anna; Vandeweyer, Geert; Alberti, Antonino; Avola, Emanuela; Vinci, Mirella; Giusto, Stefania; Pramparo, Tiziano; Pierce, Karen; Nalabolu, Srinivasa; Michaelson, Jacob J.; Sedlacek, Zdenek; Santen, Gijs W.E.; Peeters, Hilde; Hakonarson, Hakon; Courchesne, Eric; Romano, Corrado; Kooy, R. Frank; Bernier, Raphael A.; Nordenskjöld, Magnus; Gecz, Jozef; Xia, Kun; Zweifel, Larry S.; Eichler, Evan E.

2017-01-01

Although de novo missense mutations have been predicted to account for more cases of autism than gene-truncating mutations, most research has focused on the latter. We identified the properties of de novo missense mutations in patients with neurodevelopmental disorders (NDDs) and highlight 35 genes with excess missense mutations. Additionally, 40 amino acid sites were recurrently mutated in 36 genes, and targeted sequencing of 20 sites in 17,689 NDD patients identified 21 new patients with identical missense mutations. One recurrent site (p.Ala636Thr) occurs in a glutamate receptor subunit, GRIA1. This same amino acid substitution in the homologous but distinct mouse glutamate receptor subunit Grid2 is associated with Lurcher ataxia. Phenotypic follow-up in five individuals with GRIA1 mutations shows evidence of specific learning disabilities and autism. Overall, we find significant clustering of de novo mutations in 200 genes, highlighting specific functional domains and synaptic candidate genes important in NDD pathology. PMID:28628100

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

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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.

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity

NARCIS (Netherlands)

Witteveen, Josefine S.; Willemsen, Marjolein H.; Dombroski, Thais C. D.; van Bakel, Nick H. M.; Nillesen, Willy M.; van Hulten, Josephus A.; Jansen, Eric J. R.; Verkaik, Dave; Veenstra-Knol, Hermine E.; van Ravenswaaij-Arts, Conny M. A.; Wassink-Ruiter, Jolien S. Klein; Vincent, Marie; David, Albert; Le Caignec, Cedric; Schieving, Jolanda; Gilissen, Christian; Foulds, Nicola; Rump, Patrick; Strom, Tim; Cremer, Kirsten; Zink, Alexander M.; Engels, Hartmut; de Munnik, Sonja A.; Visser, Jasper E.; Brunner, Han G.; Martens, Gerard J. M.; Pfundt, Rolph; Kleefstra, Tjitske; Kolk, Sharon M.

Numerous genes are associated with neurodevelopmental disorders such as intellectual disability and autism spectrum disorder ( ASD), but their dysfunction is often poorly characterized. Here we identified dominant mutations in the gene encoding the transcriptional repressor and MeCP2 interactor

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity

NARCIS (Netherlands)

Witteveen, J.S.; Willemsen, M.H.; Dombroski, T.C.; Bakel, N.H. van; Nillesen, W.M.; Hulten, J.A. van; Jansen, E.J.; Verkaik, D.; Veenstra-Knol, H.E.; Ravenswaaij-Arts, C.M.A. van; Wassink-Ruiter, J.S.; Vincent, M.; David, A.; Le Caignec, C.; Schieving, J.; Gilissen, C.; Foulds, N.; Rump, P.; Strom, T.; Cremer, K.; Zink, A.M.; Engels, H.; Munnik, S.A. de; Visser, J.E.; Brunner, H.G.; Martens, G.J.; Pfundt, R.P.; Kleefstra, T.; Kolk, S.M.

2016-01-01

Numerous genes are associated with neurodevelopmental disorders such as intellectual disability and autism spectrum disorder (ASD), but their dysfunction is often poorly characterized. Here we identified dominant mutations in the gene encoding the transcriptional repressor and MeCP2 interactor

Prevalence of neurodevelopmental disorders among low-income African Americans at a clinic on Chicago's south side.

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Bell, Carl C; Chimata, Radhika

2015-05-01

This study examined the point prevalence of neurodevelopmental disorders among predominantly low-income, African-American psychiatric patients at Jackson Park Hospital's Family Medicine Clinic on Chicago's South Side. Using active case ascertainment methodology, the authors assessed the records of 611 psychiatric patients visiting the clinic between May 23, 2013, and January 14, 2014, to identify those with DSM-5 neurodevelopmental disorders. A total of 297 patients (49%) met criteria for a neurodevelopmental disorder during childhood. Moreover, 237 (39%) had clinical profiles consistent with neurobehavioral disorder associated with prenatal alcohol exposure, and 53 (9%) had other neurodevelopmental disorders. The authors disagreed on the specific type of neurodevelopmental disorder of seven (1% of 611) of the 297 patients with neurodevelopmental disorders. A high prevalence of neurodevelopmental disorders was found among low-income predominantly African-American psychiatric patients on Chicago's South Side. If replicated, these findings should bring about substantial changes in medical practice with African-American patients.

Neurodevelopmental disease-associated de novo mutations and rare sequence variants affect TRIO GDP/GTP exchange factor activity.

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Katrancha, Sara M; Wu, Yi; Zhu, Minsheng; Eipper, Betty A; Koleske, Anthony J; Mains, Richard E

2017-12-01

Bipolar disorder, schizophrenia, autism and intellectual disability are complex neurodevelopmental disorders, debilitating millions of people. Therapeutic progress is limited by poor understanding of underlying molecular pathways. Using a targeted search, we identified an enrichment of de novo mutations in the gene encoding the 330-kDa triple functional domain (TRIO) protein associated with neurodevelopmental disorders. By generating multiple TRIO antibodies, we show that the smaller TRIO9 isoform is the major brain protein product, and its levels decrease after birth. TRIO9 contains two guanine nucleotide exchange factor (GEF) domains with distinct specificities: GEF1 activates both Rac1 and RhoG; GEF2 activates RhoA. To understand the impact of disease-associated de novo mutations and other rare sequence variants on TRIO function, we utilized two FRET-based biosensors: a Rac1 biosensor to study mutations in TRIO (T)GEF1, and a RhoA biosensor to study mutations in TGEF2. We discovered that one autism-associated de novo mutation in TGEF1 (K1431M), at the TGEF1/Rac1 interface, markedly decreased its overall activity toward Rac1. A schizophrenia-associated rare sequence variant in TGEF1 (F1538Intron) was substantially less active, normalized to protein level and expressed poorly. Overall, mutations in TGEF1 decreased GEF1 activity toward Rac1. One bipolar disorder-associated rare variant (M2145T) in TGEF2 impaired inhibition by the TGEF2 pleckstrin-homology domain, resulting in dramatically increased TGEF2 activity. Overall, genetic damage to both TGEF domains altered TRIO catalytic activity, decreasing TGEF1 activity and increasing TGEF2 activity. Importantly, both GEF changes are expected to decrease neurite outgrowth, perhaps consistent with their association with neurodevelopmental disorders. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Mental health assessed by the Strengths and Difficulties Questionnaire for children born extremely preterm without severe disabilities at 11 years of age: a Norwegian, national population-based study.

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Fevang, Silje Katrine Elgen; Hysing, Mari; Sommerfelt, Kristian; Elgen, Irene

2017-12-01

The aims were to investigate mental health problems with the Strength and Difficulties Questionnaire (SDQ) in children born extremely preterm/extremely low birth weight (EP/ELBW) without severe disabilities compared to controls, and to identify peri-, or neonatal factors possibly predicting later mental health problems. A national Norwegian cohort of 11-year-old EP/ELBW children, excluding those with intellectual disabilities, non-ambulatory cerebral palsy, blindness and/or deafness, was assessed. Parents and teachers completed the SDQ. Mean scores and scores ≥90th percentile for the control group, combined (parent and/or teacher reporting the child ≥90th percentile), and pervasive ratings (both parent and teacher reporting the child ≥90th percentile) were presented. The controls consisted of an unselected population of all 11-year-old children born in 1995 who attended public or private schools in Bergen. Of the eligible children, 216 (64%) EP/ELBW and 1882 (61%) control children participated. The EP/ELBW children had significantly higher scores and/or increased risk of parent, teacher, combined, and pervasive rated hyperactivity/inattention, emotional-, and peer problems (OR 2.1-6.3). Only parents reported the EP/ELBW children to be at an increased risk of conduct problems (OR 1.6, 95% CI 1.1-2.6). Only low maternal education at birth was significantly associated with mental health problems at 11 years of age (OR 2.5, 95% CI 1.2-5.4). EP/ELBW children without severe disabilities had increased risk of symptoms of hyperactivity/inattention, emotional-, and peer problems. None of the peri- or neonatal factors were significantly associated with later mental health problems, except for low maternal education.

Early Conventional MRI for Prediction of Neurodevelopmental Impairment in Extremely-Low-Birth-Weight Infants.

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Slaughter, Laurel A; Bonfante-Mejia, Eliana; Hintz, Susan R; Dvorchik, Igor; Parikh, Nehal A

2016-01-01

Extremely-low-birth-weight (ELBW; ≤1,000 g) infants are at high risk for neurodevelopmental impairments. Conventional brain MRI at term-equivalent age is increasingly used for prediction of outcomes. However, optimal prediction models remain to be determined, especially for cognitive outcomes. The aim was to evaluate the accuracy of a data-driven MRI scoring system to predict neurodevelopmental impairments. 122 ELBW infants had a brain MRI performed at term-equivalent age. Conventional MRI findings were scored with a standardized algorithm and tested using a multivariable regression model to predict neurodevelopmental impairment, defined as one or more of the following at 18-24 months' corrected age: cerebral palsy, bilateral blindness, bilateral deafness requiring amplification, and/or cognitive/language delay. Results were compared with a commonly cited scoring system. In multivariable analyses, only moderate-to-severe gyral maturational delay was a significant predictor of overall neurodevelopmental impairment (OR: 12.6, 95% CI: 2.6, 62.0; p neurodevelopmental impairment/death. Diffuse cystic abnormality was a significant predictor of cerebral palsy (OR: 33.6, 95% CI: 4.9, 229.7; p neurodevelopmental impairment. In our cohort, conventional MRI at term-equivalent age exhibited high specificity in predicting neurodevelopmental outcomes. However, sensitivity was suboptimal, suggesting additional clinical factors and biomarkers are needed to enable accurate prognostication. © 2016 S. Karger AG, Basel.

Emerging Vector-Borne Diseases.

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Huntington, Mark K; Allison, Jay; Nair, Dilip

2016-10-01

Several mosquito-borne viral infections have recently emerged in North America; West Nile virus is the most common in the United States. Although West Nile virus generally causes a self-limited, flulike febrile illness, a serious neuroinvasive form may occur. Dengue is the most common vector-borne viral disease worldwide, and it has been a significant public health threat in the United States since 2009. Known as breakbone fever for its severe myalgias and arthralgias, dengue may cause a hemorrhagic syndrome. Chikungunya also causes flulike febrile illness and disabling arthralgias. Although meningoencephalitis may occur with chikungunya, bleeding is uncommon. Symptoms of Zika virus infection are similar to those of dengue, but milder. Zika virus increases the risk of fetal brain abnormalities, including microcephaly, if a pregnant woman is infected. Zika virus is spread through Aedes albopictus mosquito bites, is transmitted sexually, and may rarely spread nonsexually from person to person. Diagnosis of these vectorborne infections is clinical and serologic, and treatment is supportive. Other, well-established vector-borne diseases are also important. Ehrlichiosis is a tick-borne bacterial disease that presents as a nonspecific syndrome of fever, headache, malaise, and myalgias. It is diagnosed via blood smear testing, with confirmatory serology. Ehrlichiosis is treated with doxycycline. Rickettsial infections are transmitted by fleas, mites, and ticks, and severity ranges from mild to life threatening. Rocky Mountain spotted fever, the most significant rickettsial infection, is primarily a clinical diagnosis that presents as fever, headache, myalgias, petechial rash, and tick exposure. Doxycycline is effective for rickettsial infections if administered promptly. Vector avoidance strategies are critical to the prevention of all of these infections.

Epigenetics, autism spectrum, and neurodevelopmental disorders.

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Rangasamy, Sampathkumar; D'Mello, Santosh R; Narayanan, Vinodh

2013-10-01

Epigenetic marks are modifications of DNA and histones. They are considered to be permanent within a single cell during development, and are heritable across cell division. Programming of neurons through epigenetic mechanisms is believed to be critical in neural development. Disruption or alteration in this process causes an array of neurodevelopmental disorders, including autism spectrum disorders (ASDs). Recent studies have provided evidence for an altered epigenetic landscape in ASDs and demonstrated the central role of epigenetic mechanisms in their pathogenesis. Many of the genes linked to the ASDs encode proteins that are involved in transcriptional regulation and chromatin remodeling. In this review we highlight selected neurodevelopmental disorders in which epigenetic dysregulation plays an important role. These include Rett syndrome, fragile X syndrome, Prader-Willi syndrome, Angelman syndrome, and Kabuki syndrome. For each of these disorders, we discuss how advances in our understanding of epigenetic mechanisms may lead to novel therapeutic approaches.

Development, validation, and utility of an instrument to assess core competencies in the Leadership Education in Neurodevelopmental and Related Disabilities (LEND) program.

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Leff, Stephen S; Baum, Katherine T; Bevans, Katherine B; Blum, Nathan J

2015-02-01

To describe the development and psychometric evaluation of the Core Competency Measure (CCM), an instrument designed to assess professional competencies as defined by the Maternal Child Health Bureau (MCHB) and targeted by Leadership Education in Neurodevelopmental and Related Disabilities (LEND) programs. The CCM is a 44-item self-report measure comprised of six subscales to assess clinical, interdisciplinary, family-centered/cultural, community, research, and advocacy/policy competencies. The CCM was developed in an iterative fashion through participatory action research, and then nine cohorts of LEND trainees (N = 144) from 14 different disciplines completed the CCM during the first week of the training program. A 6-factor confirmatory factor analysis model was fit to data from the 44 original items. After three items were removed, the model adequately fit the data (comparative fit indices = .93, root mean error of approximation = .06) with all factor loadings exceeding .55. The measure was determined to be quite reliable as adequate internal consistency and test-retest reliability were found for each subscale. The instrument's construct validity was supported by expected differences in self-rated competencies among fellows representing various disciplines, and the convergent validity was supported by the pattern of inter-correlations between subscale scores. The CCM appears to be a reliable and valid measure of MCHB core competencies for our sample of LEND trainees. It provides an assessment of key training areas addressed by the LEND program. Although the measure was developed within only one LEND Program, with additional research it has the potential to serve as a standardized tool to evaluate the strengths and limitations of MCHB training, both within and between programs.

The long-term neurodevelopmental and psychological outcomes of gastroschisis: A cohort study.

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Harris, Emma L; Hart, Susannah J; Minutillo, Corrado; Ravikumara, Madur; Warner, Teresa M; Williams, Yvette; Nathan, Elizabeth A; Dickinson, Jan E

2016-04-01

Previous gastroschisis specific neurodevelopmental studies have focused on the first 3years of life. The aim of this study was to assess the intellectual, behavioral and neurological outcomes of older children and adolescents born with gastroschisis. Of 99 gastroschisis survivors born in Western Australia, 1992 to 2005, and who were at least 5years old, 42 agreed to take part in this study. The study assessed: intellectual ability, with age appropriate Wechsler intelligence scales; neurological status; hearing; vision; behavioral status with the Strengths and Difficulties Questionnaire (SDQ); and parenting style with the Parenting Relationship Questionnaire (PRQ). All results were compared to normative means. Median age at follow-up was 10years (range 5-17). No child had evidence of cerebral palsy or hearing loss; 1 child had amblyopia. Psychometric tests were completed in 39 children: mean full scale IQ was 98.2 (standard deviation [SD] 10.7); the working memory index was the only subscale to show a significant decrease from the normative mean (mean 95.5, SD 12.4, p=0.038). The mean SDQ behavioral scores were significantly lower for 3 of 5 domains and the Total Difficulties score. PRQ scores were significantly abnormal for 4 of 7 domains: Communication, Discipline, Satisfaction with School and Relational Frustration. Overall intellectual abilities were within a normal range. The decrease in working memory index and the behavioral and parenting relationship impairments could be an effect of perinatal factors, gastroschisis management and complications or the complexity of the socio-economic environment. Crown Copyright © 2016. Published by Elsevier Inc. All rights reserved.

Genetic contribution to neurodevelopmental outcomes in congenital heart disease: are some patients predetermined to have developmental delay?

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Rollins, Caitlin K; Newburger, Jane W; Roberts, Amy E

2017-10-01

Neurodevelopmental impairment is common in children with moderate to severe congenital heart disease (CHD). As children live longer and healthier lives, research has focused on identifying causes of neurodevelopmental morbidity that significantly impact long-term quality of life. This review will address the role of genetic factors in predicting neurodevelopmental outcome in CHD. A robust literature suggests that among children with various forms of CHD, those with known genetic/extracardiac anomalies are at highest risk of neurodevelopmental impairment. Advances in genetic technology have identified genetic causes of CHD in an increasing percentage of patients. Further, emerging data suggest substantial overlap between mutations in children with CHD and those that have previously been associated with neurodevelopmental disorders. Innate and patient factors appear to be more important in predicting neurodevelopmental outcome than medical/surgical variables. Future research is needed to establish a broader understanding of the mutations that contribute to neurodevelopmental disorders and the variations in expressivity and penetrance.

Electroencephalogram and magnetic resonance imaging comparison as a predicting factor for neurodevelopmental outcome in hypoxic ischemic encephalopathy infant treated with hypothermia

Directory of Open Access Journals (Sweden)

Francesca Del Balzo

2014-10-01

Full Text Available Hypoxic-ischemic encephalopathy (HIE is an important cause of acute neurological damage in newborns at (or near term. Several trials in recent years have shown that moderate hypothermia by total body cooling or selective head is an effective intervention to reduce mortality and major disability in infants survived a perinatal hypoxic-ischemic attack. Follow-up in these patients is very important to establish neurodevelopmental outcome, and specific markers can lead us to detect predicting sign for good or poor outcome. We reported a few cases of newborn with HIE treated with hypothermia, in whom the comparison between electroencephalogram (EEG and magnetic resonance imaging (MRI represents the first marker for neurodevelopment outcome prediction. The continuous EEG monitoring showed a depressed EEG activity with diffuse burst depression in 7 patients. No epileptic abnormalities were registered. In 10 out of 20 patients no abnormalities of the background activity and no epileptic abnormalities were observed. We found that a depressed EEG activity during the first 72 h of life and a diffused alteration of basal ganglia at MRI were correlated with a poor neurodevelopmental outcome at 18 months of follow-up.

School Neuropsychology Consultation in Neurodevelopmental Disorders

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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…

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 ...

Increased nuchal translucency thickness and the risk of neurodevelopmental disorders

DEFF Research Database (Denmark)

Hellmuth, Signe G; Pedersen, L H; Miltoft, Caroline B

2016-01-01

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......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...

Neurodevelopmental outcome after cardiac surgery utilizing cardiopulmonary bypass in children

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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

Place of birth,age of immigration,and disability in Hispanics with multiple sclerosis.

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Amezcua, Lilyana; Conti, David V; Liu, Lihua; Ledezma, Karina; Langer-Goulda, Annette M

2015-01-01

Hispanics in the US are a diverse community where their knowledge and risk for developing disability in multiple sclerosis (MS) may relate to their level of acculturation. To compare the risk of disability in Hispanics with MS in the US by place of birth and age of immigration. We conducted a cross-sectional study of 304 Hispanics with MS residing in Southern California. Place of birth and age of immigration were used as proxies to acculturation. Individuals were classified as US-born, early and late-immigrant (immigration to the US, respectively). Risk of disability (expanded disability status scale ≥6) was adjusted for age at symptom onset, sex, socioeconomic status, and disease duration, using logistic regression. Late-immigrants were older at symptom onset (34.2±11.9 vs. 31.9±12.9 vs. 28.5±9.7 years, pimmigrant and US-born respectively. There was no difference between groups by female sex, type of MS, ethnicity, chronic medical conditions, and disease duration while differences were noted by socioeconomic status. Being late-immigrant was independently associated with increased disability (adjusted OR 2.3 95% CIs 1.07–4.82; p=0.03) compared to US-born. Later immigration to the US in Hispanics with MS is associated with greater disability. These findings may reflect differences in social, environmental and cultural factors that may act as barriers for accessibility and utilization of health services. An in-depth assessment of the perceptions and attitudes about MS are warranted in this population.

Epigenetics in autism and other neurodevelopmental diseases.

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Miyake, Kunio; Hirasawa, Takae; Koide, Tsuyoshi; Kubota, Takeo

2012-01-01

Autism was previously thought to be caused by environmental factors. However, genetic factors are now considered to be more contributory to the pathogenesis of autism, based on the recent findings of mutations in the genes which encode synaptic molecules associated with the communication between neurons. Epigenetic is a mechanism that controls gene expression without changing DNA sequence but by changing chromosomal histone modifications and its abnormality is associated with several neurodevelopmental diseases. Since epigenetic modifications are known to be affected by environmental factors such as nutrition, drugs and mental stress, autistic diseases are not only caused by congenital genetic defects, but may also be caused by environmental factors via epigenetic mechanism. In this chapter, we introduce autistic diseases caused by epigenetic failures and discuss epigenetic changes by environmental factors and discuss new treatments for neurodevelopmental diseases based on the recent epigenetic findings.

Genetic and Environmental Control of Neurodevelopmental Robustness in Drosophila.

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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.

Factors affecting vocabulary acquisition at age 2 in children born between 23 and 28 weeks' gestation.

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Marston, Louise; Peacock, Janet L; Calvert, Sandra A; Greenough, Anne; Marlow, Neil

2007-08-01

Language development is often slower in preterm children compared with their term peers. We investigated factors associated with vocabulary acquisition at 2 years in a cohort of children born at 28 weeks' gestation or less. For children entered into the United Kingdom Oscillation Study, language development was evaluated by using the MacArthur-Bates Communicative Development Inventories score, completed by parents as part of a developmental questionnaire. The effect of demographic, neonatal, socioeconomic factors, growth, and disability were investigated using multifactorial random effects modelling. Questionnaires were returned by 288 participants (148 males, 140 females). The mean number of words vocalized was 42 (SD 29). Multifactorial analysis showed only four factors were significantly associated with vocabulary acquisition. These were: (1) level of disability (mean words: no disability, 45; other disability, 38; severe disability, 30 [severe disability is defined as at least one extreme response in one of the following clinical domains: neuromotor, vision, hearing, communication, or other physical disabilities]; 95% confidence interval [CI] for the difference between no and severe disability 7- 23); (2) sex (39 males, 44 females; 95% CI 0.4-11); (3) length of hospital stay (lower quartile, 47; upper quartile, 38; 95% CI -12 to -4); and (4) weight SD score at 12 months (lower quartile, 39; upper quartile, 44; 95% CI 1-9). There was no significant association between gestational age and vocabulary after multifactorial analysis. There was no significant effect of any socioeconomic factor on vocabulary acquisition. We conclude that clinical factors, particularly indicators of severe morbidity, dominate the correlates of vocabulary acquisition at age 2 in children born very preterm.

7,8-Dihydroxyflavone as a pro-neurotrophic treatment for neurodevelopmental disorders.

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Du, X; Hill, R A

2015-10-01

Neurodevelopmental disorders are a group of conditions that arises from impairments of the central nervous system during its development. The causes of the various disorders are heterogeneous and the symptoms likewise are multifarious. Most of these disorders currently have very little available treatment that is effective in combating the plethora of serious symptoms. Brain-derived neurotrophic factor (BDNF) is a fundamental neurotrophin with vital functions during brain development. Pre-clinical studies have shown that increasing BDNF signalling may be a potent way to prevent, arrest or even reverse abnormal neurodevelopmental events arising from a variety of genetic or environmental causes. However, many difficulties make BDNF problematic to administer in an efficient manner. The recent discovery of a small BDNF-mimetic, the naturally occurring flavonoid 7,8-dihydroxyflavone (7,8-DHF), may provide an avenue to allow efficient and safe activation of the BDNF pathway in tackling the symptoms of neurodevelopmental disorders. Here, evidence will be provided to support the potential of 7,8-DHF as a novel treatment for several neurodevelopmental disorders where the BDNF signalling pathway is implicated in the pathophysiology and where benefits are therefore most likely to be derived from its implementation. Copyright © 2015 Elsevier Ltd. All rights reserved.

An Open Conversation on Using Eye-Gaze Methods in Studies of Neurodevelopmental Disorders

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Venker, Courtney E.; Kover, Sara T.

2015-01-01

Purpose: Eye-gaze methods have the potential to advance the study of neurodevelopmental disorders. Despite their increasing use, challenges arise in using these methods with individuals with neurodevelopmental disorders and in reporting sufficient methodological detail such that the resulting research is replicable and interpretable. Method: This…

The Burden of Tick-Borne Encephalitis in Disability-Adjusted Life Years (DALYs) for Slovenia.

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Šmit, Renata; Postma, Maarten J

2015-01-01

Tick-borne encephalitis (TBE) presents an increasing burden in many parts of Europe, Asian Russia, Siberia, Asian former USSR and Far East. Incidence can be considered as one way to express the burden. A more comprehensive measure concerns disability-adjusted life years (DALYs), better characterizing the full burden of TBE. TBE burden in DALYs has not yet been estimated, nor has it been specified by the Global Burden of Disease (GBD) studies. The purpose of the present study is to estimate the burden of TBE in Slovenia, expressed in DALYs, both from the population and individual perspectives. We discuss the impact of TBE burden on public health and potential strategies to reduce this burden in Slovenia. The burden of TBE is estimated by using the updated DALYs' methodology first introduced in the GBD project. The DALYs᾽ calculations are based on the health outcomes of the natural course of the disease being modelled. Corrections for under-reporting and under-ascertainment are applied. The impact of uncertainty in parameters in the model was assessed using sensitivity analyses. From the population perspective, total DALYs amount to 3,450 (167.8 per 100,000 population), while from the individual perspective they amount to 3.1 per case in 2011. Notably, the consequences of TBE present a larger burden than TBE itself. TBE presents a relatively high burden expressed in DALYs compared with estimates for other infectious diseases from the GBD 2010 study for Slovenia. Raising awareness and increasing vaccination coverage are needed to reduce TBE and its consequences.

Improving Neurodevelopmental Outcomes in Children with Congenital Heart Disease: An Intervention Study

Science.gov (United States)

2017-10-01

AWARD NUMBER: W81XWH-16-1-0741 TITLE: Improving Neurodevelopmental Outcomes in Children with Congenital Heart Disease: An Intervention Study...2017 4. TITLE AND SUBTITLE Improving Neurodevelopmental Outcomes in Children with Congenital Heart Disease: An Intervention Study 5a. CONTRACT NUMBER...the most prevalent, and arguably the most distressing, long-term morbidity in the burgeoning population with congenital heart disease (CHD). Deficits

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

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

2018-02-01

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. [AJP at 175: Remembering Our Past As We Envision Our Future November 1938: Electroencephalographic Analyses of Behavior Problem Children Herbert Jasper and colleagues found that brain abnormalities revealed by EEG are a potential causal factor in childhood behavioral disorders. (Am J Psychiatry 1938; 95:641-658 )].

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

Male-specific deficits in natural reward learning in a mouse model of neurodevelopmental disorders

NARCIS (Netherlands)

Grissom, N M; McKee, S E; Schoch, H; Bowman, N; Havekes, R; O'Brien, W T; Mahrt, E; Siegel, S; Commons, K; Portfors, C; Nickl-Jockschat, T; Reyes, T M; Abel, T

Neurodevelopmental disorders, including autism spectrum disorders, are highly male biased, but the underpinnings of this are unknown. Striatal dysfunction has been strongly implicated in the pathophysiology of neurodevelopmental disorders, raising the question of whether there are sex differences in

Cerebral Palsy and Intellectual Disability in the Children of Women With Chronic Kidney Disease.

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Tsuchiyama, Fumika; Makino, Yasuo; Hirasawa, Kyoko; Nagata, Satoru; Matsui, Hideo

2017-08-01

This study examined the risk of adverse maternal and neonatal outcomes, especially cerebral palsy and intellectual disability, in pregnant women with and without chronic kidney disease and their children. In total, 156 pregnancies involving 139 women with chronic kidney disease who were treated at our center between 2001 and 2010 were identified. We also selected 3067 women without chronic kidney disease who delivered their infants without suffering any medical complications during the same period as control groups. Long-term neonatal prognosis was assessed based on the frequencies of cerebral palsy and/or intellectual disability. The pregnant women had the following types of chronic kidney disease: immunoglobulin A nephropathy (n = 54), glomerulonephritis (n = 17), chronic renal failure (n = 16), nephrotic syndrome (n = 12), nephritis (n = 11), diabetic nephropathy (n = 10), congenital malformations and deformations (n = 10), purpura nephritis (n = 7), and others (n = 19). Of the children who were born to mothers with chronic kidney disease, one developed cerebral palsy, and another developed cerebral palsy with intellectual disability. Seven of the children who were born to mothers without chronic kidney disease developed cerebral palsy. The posterior probability of these conditions was 0.01900 and 0.002610 in the children born to mothers with and without chronic kidney disease, respectively. A primiparous mother (odds ratio [OR]: 4.07, 95% confidence interval [CI]): 2.78 to 5.95), preeclampsia (OR: 6.44, 95% CI: 3.92 to 10.59), grade 1 to 4 intraventricular hemorrhaging (OR: 7.71, 95% CI: 2.05 to 28.92), and an Apgar score of less than 7 at five minutes (OR: 0.51, 95% CI: 0.27 to 0.96) were found to influence the risk of cerebral palsy and/or intellectual disability in children born to women with chronic kidney disease. We found that the incidence of cerebral palsy and/or intellectual disability is 7.2-fold higher in children born to women

Preliminary Study of Neurodevelopmental Outcomes and Parenting Stress in Pediatric Mitochondrial Disease.

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Eom, Soyong; Lee, Young-Mock

2017-06-01

Little is known regarding the neuropsychological profiles of pediatric patients with mitochondrial diseases or their parents, information that is crucial for improving the quality of life (QOL) for both patients and parents. We aimed to delineate neurodevelopment and psychological comorbidity in children with mitochondrial diseases in the preliminary investigation of adequate intervention methods, better prognoses, and improved QOL for both patients and parents. Seventy children diagnosed with mitochondrial diseases were neuropsychologically evaluated. Neurocognitive (development, intelligence) and psychological (behavior, daily living function, maternal depression, parenting stress) functions were analyzed. Clinical variables, including the first symptom, epileptic classification, organ involvement, lactic acidosis, brain magnetic resonance imaging findings, muscle pathology, biochemical enzyme assay results, and syndromic diagnosis of mitochondrial diseases, were also reviewed. Prediagnostic assessments indicated that cognitive and psychomotor developments were significantly delayed. Group mean full scale intelligence quotient (IQ) scores indicated mild levels of intellectual disability, borderline levels of verbal IQ impairment, and mild levels of intellectual disability on performance IQ. Many children exhibited clinically significant levels of behavioral problems, whereas mothers of children with mitochondrial diseases exhibited significant increases in parenting stress relative to mothers of healthy children. Furthermore, 65% of mothers exhibited significant levels of depression. Early onset of the first symptoms, diffuse brain atrophy, and drug-resistant epilepsy negatively influenced neurodevelopmental and adaptive functions. Better understanding of the functional levels and profiles of neurodevelopment and psychological comorbidity in children with mitochondrial diseases in the prediagnostic period is essential for adequate support and QOL of children with

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

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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.

Neurodevelopment of preterm infants born at 28 to 36 weeks of gestational age: the role of hypothyroxinemia and long-term outcome at 4 years.

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Ares, Susana; Quero, José; Diez, Jesus; Morreale de Escobar, Gabriella

2011-01-01

Hypothyroxinemia in premature neonates may affect long-term neurodevelopment. This study aimed to examine the effects of hypothyroxinemia of the newborn preterm infants born at 28-36 weeks of gestational age (GA) on the neurodevelopment at 4 years of age. Prospective observational cohort study conducted in Madrid, Spain. Forty-six preterm infants were included in the study. The effects of the exposure to neonatal hypothyroxinemia on mental development were examined. Using regression analyses we found that neonatal T4 had a positive association with general cognitive index and Verbal index, and neonatal FT4 with general cognitive and Memory indexes at 4 years of age. The exposure to hypothyroxinemia during the neonatal period of late preterm infants may play role in neurodevelopmental delays. Higher T4 level means a trend to higher indexes and low T4 level means a lower neurodevelopmental indexes at 4 years of age.

Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.

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Maria Tropeano

Full Text Available Copy number variants (CNVs at chromosome 16p13.11 have been associated with a range of neurodevelopmental disorders including autism, ADHD, intellectual disability and schizophrenia. Significant sex differences in prevalence, course and severity have been described for a number of these conditions but the biological and environmental factors underlying such sex-specific features remain unclear. We tested the burden and the possible sex-biased effect of CNVs at 16p13.11 in a sample of 10,397 individuals with a range of neurodevelopmental conditions, clinically referred for array comparative genomic hybridisation (aCGH; cases were compared with 11,277 controls. In order to identify candidate phenotype-associated genes, we performed an interval-based analysis and investigated the presence of ohnologs at 16p13.11; finally, we searched the DECIPHER database for previously identified 16p13.11 copy number variants. In the clinical referral series, we identified 46 cases with CNVs of variable size at 16p13.11, including 28 duplications and 18 deletions. Patients were referred for various phenotypes, including developmental delay, autism, speech delay, learning difficulties, behavioural problems, epilepsy, microcephaly and physical dysmorphisms. CNVs at 16p13.11 were also present in 17 controls. Association analysis revealed an excess of CNVs in cases compared with controls (OR = 2.59; p = 0.0005, and a sex-biased effect, with a significant enrichment of CNVs only in the male subgroup of cases (OR = 5.62; p = 0.0002, but not in females (OR = 1.19, p = 0.673. The same pattern of results was also observed in the DECIPHER sample. Interval-based analysis showed a significant enrichment of case CNVs containing interval II (OR = 2.59; p = 0.0005, located in the 0.83 Mb genomic region between 15.49-16.32 Mb, and encompassing the four ohnologs NDE1, MYH11, ABCC1 and ABCC6. Our data confirm that duplications and deletions at 16p13

Pilot study of EEG in neonates born to mothers with gestational diabetes mellitus.

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Léveillé-, Pauline; Hamel, Mathieu; Ardilouze, Jean-Luc; Pasquier, Jean-Charles; Deacon, Charles; Whittingstall, Kevin; Plourde, Mélanie

2018-05-01

The goal was to evaluate whether there was neurodevelopmental deficits in newborns born to mothers with gestational diabetes mellitus (GDM) compared to control newborns born to healthy mothers. Forty-six pregnant women (21 controls and 25 GDM) were recruited. Electroencephalogram (EEG) was recorded in the newborns within 48 h after birth. The EEG signal was quantitatively analyzed using power spectral density (PSD); coherence between hemispheres was calculated in paired channels of frontal, temporal, central and occipital regions. The left centro-occipital PSD in control newborns was 12% higher than in GDM newborns (p = 0.036) but was not significant after adjustment for gestational age. While coherence was higher in the frontal regions compared to the occipital regions (p gestational age and less by GDM status of the mothers. However, there is a need to confirm this result with a higher number of mother-newborns. Quantitative EEG in GDM newborns within 48 h after birth is feasible. This study emphasizes the importance of controlling blood glucose during GDM to protect infant brain development. Copyright © 2018 ISDN. Published by Elsevier Ltd. All rights reserved.

Health Status Among Adults Born With an Oral Cleft in Norway.

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Berg, Erik; Haaland, Øystein A; Feragen, Kristin B; Filip, Charles; Vindenes, Hallvard A; Moster, Dag; Lie, Rolv T; Sivertsen, Åse

2016-11-01

Parents regularly express concern about long-term health outcomes for children who are born with an oral cleft. To assess whether oral clefts affect the health and ability to work of young adults. A population-based cohort study was conducted on all individuals born in Norway between calendar years 1967 and 1992 (n = 1 490 401). All patients treated for clefts in Norway during the study period were invited to participate (n = 2860). This study used population-based, long-term follow-up data from national registries to focus on the future health outcomes of individuals with cleft and no additional chronic medical conditions or congenital anomalies. A total of 523 individuals were excluded from the study cohort because they declined participation, could not be reached by mail, or had birth defects other than clefts. The final cohort, consisting of 2337 cases with isolated clefts and 1 413 819 unaffected individuals, was followed up until December 31, 2010, using compulsory national registries and clinical data. Data analysis was conducted from February 13, 2014, to April 18, 2016. Oral clefts. Death, intellectual disability, schizophrenia, mood affective disorders, anxiety disorders, autism spectrum disorders, attention deficit/hyperactivity disorder, severe learning disability, cerebral palsy, epilepsy, muscle or skeletal disorders, trauma, and episodes of reduced health. Of 2860 individuals born with an oral cleft, 2337 were included in the analysis; of these, 1401 were male (59.9%). Mean (SD) age in 2010 was 30.6 (7.7) years. Compared with unaffected individuals, no increased risks were found regarding morbidity or mortality among persons with isolated cleft lip only. Among individuals with isolated cleft lip and cleft palate, increased risks of intellectual disability (relative risk [RR], 2.2; 95% CI, 1.2-4.1) and cerebral palsy (RR, 2.6; 95% CI, 1.1-6.2) were found. Individuals with isolated cleft palate (ie, without cleft lip) had increased mortality

Immunization Safety Review: Thimerosal - Containing Vaccines and Neurodevelopmental Disorders

National Research Council Canada - National Science Library

Stratton, Kathleen; Gable, Alicia; McCormick, Marie C

2001-01-01

In this report, the Immunization Safety Review committee examines the hypothesis of whether or not the use of vaccines containing the preservative thimerosal can cause neurodevelopmental disorders (NDDs...

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

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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.

Language functions in preterm-born children: a systematic review and meta-analysis.

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van Noort-van der Spek, Inge L; Franken, Marie-Christine J P; Weisglas-Kuperus, Nynke

2012-04-01

Preterm-born children (language function problems compared with term-born children. It is unknown whether these problems decrease, deteriorate, or remain stable over time. The goal of this research was to determine the developmental course of language functions in preterm-born children from 3 to 12 years of age. Computerized databases Embase, PubMed, Web of Knowledge, and PsycInfo were searched for studies published between January 1995 and March 2011 reporting language functions in preterm-born children. Outcome measures were simple language function assessed by using the Peabody Picture Vocabulary Test and complex language function assessed by using the Clinical Evaluation of Language Fundamentals. Pooled effect sizes (in terms of Cohen's d) and 95% confidence intervals (CI) for simple and complex language functions were calculated by using random-effects models. Meta-regression was conducted with mean difference of effect size as the outcome variable and assessment age as the explanatory variable. Preterm-born children scored significantly lower compared with term-born children on simple (d = -0.45 [95% CI: -0.59 to -0.30]; P language function tests, even in the absence of major disabilities and independent of social economic status. For complex language function (but not for simple language function), group differences between preterm- and term-born children increased significantly from 3 to 12 years of age (slope = -0.05; P = .03). While growing up, preterm-born children have increasing difficulties with complex language function.

The demography of disability and the effects of immigrant history: older Asians in the United States.

Science.gov (United States)

Mutchler, Jan E; Prakash, Archana; Burr, Jeffrey A

2007-05-01

Using data from the 2000 U.S. census, we compare the older Asian population with U.S.-born, non-Hispanic whites with respect to three indicators of disability. Insofar as any Asian "advantage" in health vis-a-vis whites exists among the population aged 65 and over, our evidence suggests that it occurs primarily among the U.S.-born segments of this population. We also investigate how differences in disability levels among Asian immigrant groups are influenced by country of birth and by the combined effects of duration of residence in the United States and life cycle stage at entry. These results highlight the diversity of the older Asian population with respect to the ways in which immigration and origin history are linked to disability outcomes. We conclude that in later life, immigrant status confers few disability advantages among the Asian population in the United States.

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

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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

High prevalence/low severity language delay in preschool children born very preterm.

Science.gov (United States)

Foster-Cohen, Susan H; Friesen, Myron D; Champion, Patricia R; Woodward, Lianne J

2010-10-01

To examine the language development at corrected age 4 years of a regionally representative cohort of children born very preterm (VPT). Of particular interest was the identification of biological and socioenvironmental risk and protective factors that influence VPT children's early language development. Data were collected as part of a prospective longitudinal study of 110 VPT (VPT: ≤ 33 weeks gestation) and 113 full-term children (full term: 37-41 weeks gestation) born in Canterbury, New Zealand from 1998 to 2000. At corrected age 4 years, all children were assessed with the preschool version of the Clinical Evaluation of Language Fundamentals. Extensive information was also collected about children's family social background, perinatal health, childrearing environment, education/intervention exposures, and neurodevelopmental progress from birth to age 4. At the age of 4 years, VPT children were characterized by poorer receptive and expressive language development than full-term children. These differences persisted after exclusion of children with neurosensory impairment as well as statistical adjustment for the effects of social risk. Within the VPT group, the key predictors of children's overall language development were family social risk at birth (p =.05), severity of white matter abnormalities on neonatal magnetic resonance imaging (p =.49), observed parent-child synchrony (p =.001), and concurrent child cognitive ability (p =.001). Together, these factors accounted for 45% of the variance in children's total Clinical Evaluation of Language Fundamentals-Preschool scores. By preschool age, children born VPT show early emerging mild to moderate language delays that are likely to affect their school success and longer-term developmental progress. Findings highlight the importance of potentially modifiable factors such as early brain injury and parenting quality in predicting the language outcomes of children born VPT.

Association of Patent Ductus Arteriosus Ligation With Death or Neurodevelopmental Impairment Among Extremely Preterm Infants

Science.gov (United States)

Mirea, Lucia; Rosenberg, Erin; Jang, Maximus; Ly, Linh; Church, Paige T.; Kelly, Edmond; Kim, S. Joseph; Jain, Amish; McNamara, Patrick J.; Shah, Prakesh S.

2017-01-01

Importance Observational studies have associated patent ductus arteriosus (PDA) ligation among preterm infants with adverse neonatal outcomes and neurodevelopmental impairment in early childhood, with a resultant secular trend away from surgical treatment. However, to our knowledge, studies have inadequately addressed sources of residual bias, including survival bias and major neonatal morbidities arising before exposure to ligation. Objective Evaluate the association between PDA ligation vs medical management and neonatal and neurodevelopmental outcomes. Design, Setting, and Participants This retrospective cohort study of preterm infants younger than 28 weeks gestational age born between January 1, 2006, and December 31, 2012, with clinical and echocardiography diagnoses of hemodynamically significant PDA was conducted at 3 tertiary neonatal intensive care units and affiliated follow-up programs. Exposure Surgical ligation vs medical management. Main Outcomes and Measures The primary outcome was a composite of death or neurodevelopmental impairment (NDI) at 18 to 24 months corrected age. Secondary outcomes included death before discharge, NDI, moderate-severe chronic lung disease, and severe retinopathy of prematurity. Multivariable logistic regression analysis was used to adjust for perinatal and postnatal confounders. Results Of 754 infants with hemodynamically significant PDA (mean [standard deviation] gestational age 25.7 [1.2] weeks and birth weight 813 [183] grams), 184 (24%) underwent ligation. Infants who underwent ligation had a higher frequency of morbidities before PDA closure, including sepsis, necrotizing enterocolitis, and a dependence on mechanical ventilation. After adjusting for perinatal characteristics and preligation morbidities, there was no difference in the odds of death or NDI (adjusted odds ratio (aOR), 0.83; 95% CI, 0.52-1.32), NDI (aOR, 1.27; 95% CI, 0.78-2.06), chronic lung disease (aOR, 1.36; 95% CI, 0.78-2.39) or severe retinopathy of

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.

Relationship Between Amino Acid and Energy Intake and Long-Term Growth and Neurodevelopmental Outcomes in Very Low Birth Weight Infants.

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Yang, Jinghui; Chang, Serena Su Ying; Poon, Woei Bing

2016-08-01

Inadequate nutrition may contribute to adverse neurodevelopmental and growth outcomes in very low birth weight (VLBW) infants. A retrospective cohort study was conducted of infants born weighing growth at 2 years. Parenteral amino acid intake in week 2 of life correlated with higher language and motor scores on the 2-year Bayley Scales of Infant and Toddler Development Third Edition (Bayley III). Conversely, higher total amino acid intake during week 1 of life (≥1.5 g/kg/d) was associated with a shorter duration of hospitalization, shorter intensive care stay, fewer days receiving mechanical ventilation, fewer days receiving supplemental oxygen, and a lower incidence of chronic lung disease (CLD). Higher caloric intake in the first 4 weeks correlated strongly with shorter duration of hospitalization, shorter intensive care stay, fewer days on the ventilator, and fewer days receiving supplemental oxygen. In patients with CLD, week 1 and 2 parenteral and total amino acid intake correlated with higher cognitive and motor scores on the Bayley III at 2 years old. Weeks 1-4 amino acid and calorie intake correlated with fewer days on the ventilator, fewer days of supplemental oxygen, and fewer days of hospitalization. Amino acid intake within the first weeks of life correlated positively with neurodevelopmental outcomes at 2 years, and patients with CLD were found to be particularly at risk. Caloric intake may affect protein accretion. © 2015 American Society for Parenteral and Enteral Nutrition.

Neurodevelopmental Disorders (ASD and ADHD): DSM-5, ICD-10, and ICD-11.

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Doernberg, Ellen; Hollander, Eric

2016-08-01

Neurodevelopmental disorders, specifically autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) have undergone considerable diagnostic evolution in the past decade. In the United States, the current system in place is the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), whereas worldwide, the International Statistical Classification of Diseases and Related Health Problems, Tenth Revision (ICD-10) serves as a general medical system. This review will examine the differences in neurodevelopmental disorders between these two systems. First, we will review the important revisions made from the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM-IV-TR) to the DSM-5, with respect to ASD and ADHD. Next, we will cover the similarities and differences between ASD and ADHD classification in the DSM-5 and the ICD-10, and how these differences may have an effect on neurodevelopmental disorder diagnostics and classification. By examining the changes made for the DSM-5 in 2013, and critiquing the current ICD-10 system, we can help to anticipate and advise on the upcoming ICD-11, due to come online in 2017. Overall, this review serves to highlight the importance of progress towards complementary diagnostic classification systems, keeping in mind the difference in tradition and purpose of the DSM and the ICD, and that these systems are dynamic and changing as more is learned about neurodevelopmental disorders and their underlying etiology. Finally this review will discuss alternative diagnostic approaches, such as the Research Domain Criteria (RDoC) initiative, which links symptom domains to underlying biological and neurological mechanisms. The incorporation of new diagnostic directions could have a great effect on treatment development and insurance coverage for neurodevelopmental disorders worldwide.

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

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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

Validity of the ages and stages questionnaires in Korean compared to Bayley Scales of infant development-II for screening preterm infants at corrected age of 18-24 months for neurodevelopmental delay.

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Kwun, Yoojin; Park, Hye Won; Kim, Min-Ju; Lee, Byong Sop; Kim, Ellen Ai-Rhan

2015-04-01

This study aimed to evaluate the validity of the ages and stages questionnaire in Korean (ASQ 1st edition, Korean Questionnaires, Seoul Community Rehabilitation Center, 2000) for premature infants. The study population consisted of 90 premature infants born between January 1, 2005, and December 31, 2011, who were tested using the ASQ (Korean) and Bayley Scales of Infant Development (BSID) (II) at a corrected age of 18-24 months. The validity of the ASQ (Korean) using cut-off values set at < -2 SD was examined by comparing it to the BSID (II) components, namely, the mental developmental index (MDI) or psychomotor developmental index (PDI), which were both set at < 85. The calculation of the sensitivities, specificities, positive predictive values, and negative predictive values of the ASQ (Korean) components revealed that they detected infants with neurodevelopmental delay with low sensitivity and positive predictive values, however, the communication domain showed moderate correlations with MDI. The failure in more than one domain of the ASQ (Korean) was significantly correlated with the failure in MDI. The ASQ (Korean) showed low validity for screening neurodevelopmentally delayed premature infants.

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

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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.

National screening program vs. standardized neurodevelopmental follow-up

NARCIS (Netherlands)

Maschke, Cornelia; Ellenrieder, Birte; Hecher, Kurt; Bartmann, Peter

Background: Long-term follow-up is urgently needed to decide on the consequences of new therapies. Objective: This study assesses the use of a national child development screening program for a follow-up examination of a defined patient group. Patients and methods: Neurodevelopmental outcome of 139

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

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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…

Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus

DEFF Research Database (Denmark)

Holman, Sk; Morgan, T; Baujat, G

2013-01-01

Osteopathia striata congenita with cranial sclerosis (OSCS) is a skeletal dysplasia caused by germline deletions of or truncating point mutations in the X-linked gene WTX (FAM123B, AMER1). Females present with longitudinal striations of sclerotic bone along the long axis of long bones and cranial...... sclerosis, with a high prevalence of cleft palate and hearing loss. Intellectual disability or neurodevelopmental delay is not observed in females with point mutations in WTX leading to OSCS. One female has been described with a deletion spanning multiple neighbouring genes suggesting that deletion of some...... neighbouring loci may result in abnormal neurodevelopment. In this cohort of 13 females with OSCS resulting from deletions of WTX, a relationship is observed where deletion of ARHGEF9 and/or MTMR8 in conjunction with WTX results in an additional neurodevelopmental phenotype whereas deletion of ASB12 along...

Neighborhood Characteristics and Disability in Older Adults

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Blaney, Shannon; Cerda, Magda; Frye, Victoria; Lovasi, Gina S.; Ompad, Danielle; Rundle, Andrew; Vlahov, David

2009-01-01

Objective To characterize the influence of the residential neighborhood of older adults on the prevalence of disability. Methods We combined Census data on disability in older adults living in New York City with environmental information from a comprehensive geospatial database. We used factor analysis to derive dimensions of compositional and physical neighborhood characteristics and linear regression to model their association with levels of disability. Measures of neighborhood collective efficacy were added to these models to explore the impact of the social environment. Results Low neighborhood socioeconomic status, residential instability, living in areas with low proportions of foreign born and high proportions of Black residents, and negative street characteristics were associated with higher prevalence of both “physical” disability and “going outside the home” disability. High crime levels were additionally associated with physical disability, although this relationship disappeared when misdemeanor arrests were removed from the crime variable. Low levels of collective efficacy were associated with more going-outside-the-home disability, with racial/ethnic composition dropping out of this model to be replaced by an interaction term. Conclusion The urban environment may have a substantial impact on whether an older adult with a given level of functional impairment is able to age actively and remain independent. PMID:19181694

Brain neurodevelopmental markers related to the deficit subtype of schizophrenia.

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Takahashi, Tsutomu; Takayanagi, Yoichiro; Nishikawa, Yumiko; Nakamura, Mihoko; Komori, Yuko; Furuichi, Atsushi; Kido, Mikio; Sasabayashi, Daiki; Noguchi, Kyo; Suzuki, Michio

2017-08-30

Deficit schizophrenia is a homogeneous subtype characterized by a trait-like feature of primary and prominent negative symptoms, but the etiologic factors related to this specific subtype remain largely unknown. This magnetic resonance imaging study aimed to examine gross brain morphology that probably reflects early neurodevelopment in 38 patients with deficit schizophrenia, 37 patients with non-deficit schizophrenia, and 59 healthy controls. Potential brain neurodevelopmental markers investigated in this study were the adhesio interthalamica (AI), cavum septi pellucidi (CSP), and surface morphology (i.e., olfactory sulcus depth, sulcogyral pattern, and number of orbital sulci) of the orbitofrontal cortex (OFC). The subtype classification of schizophrenia patients was based on the score of Proxy for the Deficit Syndrome. The deficit schizophrenia group had a significantly shorter AI compared with the non-deficit group and controls. The deficit group, but not the non-deficit group, was also characterized by an altered distribution of the OFC sulcogyral pattern, as well as fewer posterior orbital sulcus compared with controls. Other neurodevelopmental markers did not differentiate the deficit and non-deficit subgroups. These results suggest that the deficit subtype of schizophrenia and its clinical manifestation may be at least partly related to prominent neurodevelopmental pathology. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

Neurodevelopmental delay among children under the age of three years at immunization clinics in Lagos State, Nigeria - Preliminary report.

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Bakare, Muideen O; Bello-Mojeed, Mashudat A; Munir, Kerim M; Ogun, Oluwayemi C; Eaton, Julian

2016-04-29

Late diagnosis and interventions characterize childhood neurodevelopmental disorders in Sub-Saharan Africa. This has negatively impacted on the prognosis of the children with neurodevelopmental disorders. This study examined the prevalence and pattern of neurodevelopmental delays among children under the age of 3 years attending immunization clinics in Lagos State, Nigeria and also affords opportunity of early follow-up and interventions, which had been documented to improve prognosis. The study involved two stage assessments; which consisted of first phase screening of the children for neurodevelopmental delays in immunization clinics at primary healthcare centers Lagos State, Nigeria and second phase which consists of definitive clinical evaluation and follow-up interventions for children screened positive for neurodevelopmental delays. Twenty seven (0.9%) of a total of 3,011 children under the age of 3 years were screened positive for neurodevelopmental delays and subsequently undergoing clinical evaluation and follow-up interventions. Preliminary working diagnoses among these children include cerebral palsy, autism spectrum disorder trait, nutritional deficiency, Down syndrome and Non-specific neurodevelopmental delay with co-morbid seizure disorder accounting for 33.3%, 14.8%, 18.5%, 7.4% and 25.9% respectively. This is a preliminary report that would be followed up with information on medium and long term intervention phase.

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

Maternal Metabolic Conditions and Risk for Autism and Other Neurodevelopmental Disorders

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Walker, Cheryl K.; Bremer, Andrew A.; Baker, Alice S.; Ozonoff, Sally; Hansen, Robin L.; Hertz-Picciotto, Irva

2012-01-01

OBJECTIVE: We examined whether metabolic conditions (MCs) during pregnancy (diabetes, hypertension, and obesity) are associated with autism spectrum disorder (ASD), developmental delays (DD), or impairments in specific domains of development in the offspring. METHODS: Children aged 2 to 5 years (517 ASD, 172 DD, and 315 controls) were enrolled in the CHARGE (Childhood Autism Risks from Genetics and the Environment) study, a population-based, case-control investigation between January 2003 and June 2010. Eligible children were born in California, had parents who spoke English or Spanish, and were living with a biological parent in selected regions of California. Children’s diagnoses were confirmed by using standardized assessments. Information regarding maternal conditions was ascertained from medical records or structured interview with the mother. RESULTS: All MCs were more prevalent among case mothers compared with controls. Collectively, these conditions were associated with a higher likelihood of ASD and DD relative to controls (odds ratio: 1.61 [95% confidence interval: 1.10–2.37; odds ratio: 2.35 [95% confidence interval: 1.43–3.88], respectively). Among ASD cases, children of women with diabetes had Mullen Scales of Early Learning (MSEL) expressive language scores 0.4 SD lower than children of mothers without MCs (P neurodevelopmental problems in children. With obesity rising steadily, these results appear to raise serious public health concerns. PMID:22492772

Pharmacogenetics of the Neurodevelopmental Impact of Anticancer Chemotherapy

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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…

Neonatal outcomes following extensive cardiopulmonary resuscitation in the delivery room for infants born at less than 33 weeks gestational age.

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Soraisham, Amuchou Singh; Lodha, Abhay Kumar; Singhal, Nalini; Aziz, Khalid; Yang, Junmin; Lee, Shoo K; Shah, Prakesh S

2014-02-01

To examine the neonatal mortality and morbidity of infants born at CPR) immediately after birth. In this retrospective cohort study, we performed secondary analyses of data from infants born at Neonatal Network between January 2010 and December 2011. Infants were divided into two groups based on birth weight (neonatal morbidity and mortality compared using bivariate and multivariate analyses. Of the 8033 eligible infants, 419 (5.2%) received DR-CPR. For infants weighing CPR, whereas 3.4% (outborn: 9.6%, inborn: 2.2%) of those weighing ≥1000 g received DR-CPR. If infants received DR-CPR there was increased risk of mortality, bronchopulmonary dysplasia (BPD) and severe brain injury. Logistic regression analysis showed DR-CPR was associated with increased mortality (adjusted odds ratio [aOR]: 2.09, 95% CI [1.39, 3.14]) in infants born weighing CPR was associated with increased mortality (aOR: 7.16, 95% CI [3.88, 13.2]), severe brain injury (aOR: 3.08, 95% CI [1.82, 5.22]), BPD (aOR: 2.14, 95% CI [1.25, 3.65]), pneumothorax (aOR: 3.11, 95% CI [1.53, 6.31]) and intestinal perforation (aOR: 3.47, 95% CI [1.46, 8.24]). DR-CPR is associated with increased risk of mortality and morbidity especially in preterm infants born weighing ≥1000 g. Long-term neurodevelopmental follow up is warranted for these infants.

Program Director Survey: Attitudes Regarding Child Neurology Training and Testing.

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Valencia, Ignacio; Feist, Terri B; Gilbert, Donald L

2016-04-01

As a result of major clinical and scientific advances and changes in clinical practice, the role of adult neurology training for Child Neurology and Neurodevelopmental Disability (NDD) certification has become controversial. The most recently approved requirements for board eligibility for child neurology and neurodevelopmental disability residents still include 12 months in adult neurology rotations. The objective of this study was to assess United States child neurology and neurodevelopmental disability residency program directors' opinions regarding optimal residency training. The authors developed an 18-item questionnaire and contacted all 80 child neurology and neurodevelopmental disability program directors via e-mail, using SurveyMonkey. A total of 44 program directors responded (55%), representing programs that train 78 categorical and 94 total resident positions, approximately 70% of those filled in the match. Respondents identified multiple areas where child neurology residents need more training, including genetics and neuromuscular disease. A substantial majority (73%) believed child neurology and neurodevelopmental disability residents need less than 12 adult neurology training months; however, most (75%) also believed adult hospital service and man-power needs (55%) and finances (34%) would pose barriers to reducing adult neurology. Most (70%) believed reductions in adult neurology training should be program flexible. A majority believed the written initial certification examination should be modified with more child neurology and fewer basic neuroscience questions. Nearly all (91%) felt the views of child neurology and neurodevelopmental disability program directors are under-represented within the Accreditation Council for Graduate Medical Education Residency Review Committee. The requirement for 12 adult neurology months for Child Neurology and Neurodevelopmental Disability certification is not consistent with the views of the majority of program

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.

A compensatory role for declarative memory in neurodevelopmental disorders

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Ullman, Michael T.; Pullman, Mariel Y.

2015-01-01

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, and because this system can learn and retain numerous types of information, functions, and tasks, it 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. PMID:25597655

Liver transplantation may prevent neurodevelopmental deterioration in high-risk patients with urea cycle disorders.

Science.gov (United States)

Kido, Jun; Matsumoto, Shirou; Momosaki, Ken; Sakamoto, Rieko; Mitsubuchi, Hiroshi; Endo, Fumio; Nakamura, Kimitoshi

2017-09-01

UCDs are among the most common inherited metabolic diseases in Japan. We investigated the clinical manifestations, treatment, and prognoses of 177 patients with UCDs who were evaluated and treated from January 1999 to March 2009 in Japan, using a questionnaire survey. Among these 177 patients, 42 (seven with carbamoyl phosphate synthetase 1 deficiency, 27 with ornithine transcarbamylase deficiency, seven with argininosuccinate synthetase deficiency, and one with arginase 1 deficiency) underwent living-donor LT. Although this study was retrospective and included limited neurodevelopmental information before and after LT, we evaluated whether LT could improve neurodevelopmental outcomes in patients with UCDs. The neurodevelopmental outcomes of patients with a MAC of <300 μmol/L at the time of onset were not significantly different between the LT and non-LT groups (P=.222). LT may have prevented further neurodevelopmental complications in children with MAC ≥300 μmol/L (P=.008) compared with non-transplant management. Therefore, Liver transplant should be considered in patients with UCD with a MAC of ≥300 μmol/L at the time of disease onset. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Brain magnetic resonance imaging and motor and intellectual functioning in 86 patients born at term with spastic diplegia.

Science.gov (United States)

Numata, Yurika; Onuma, Akira; Kobayashi, Yasuko; Sato-Shirai, Ikuko; Tanaka, Soichiro; Kobayashi, Satoru; Wakusawa, Keisuke; Inui, Takehiko; Kure, Shigeo; Haginoya, Kazuhiro

2013-02-01

To investigate the association between magnetic resonance imaging (MRI) patterns and motor function, epileptic episodes, and IQ or developmental quotient in patients born at term with spastic diplegia. Eighty-six patients born at term with cerebral palsy (CP) and spastic diplegia (54 males, 32 females; median age 20 y, range 7-42 y) among 829 patients with CP underwent brain MRI between 1990 and 2008. The MRI and clinical findings were analysed retrospectively. Intellectual disability was classified according to the Enjoji developmental test or the Wechsler Intelligence Scale for Children (3rd edition). The median ages at diagnosis of CP, assignment of Gross Motor Function Classification System (GMFCS) level, cognitive assessment, and MRI were 2 years (range 5 mo-8 y), 6 years (2 y 8 mo-19 y), 6 years (1 y 4 mo-19 y), and 7 years (10 mo-30 y) respectively. MRI included normal findings (41.9%), periventricular leukomalacia, hypomyelination, and porencephaly/periventricular venous infarction. The frequency of patients in GMFCS levels III to V and intellectual disability did not differ between those with normal and abnormal MRI findings. Patients with normal MRI findings had significantly fewer epileptic episodes than those with abnormal ones (p=0.001). Varied MRI findings, as well as the presence of severe motor dysfunction and intellectual disability (despite normal MRI), suggest that patients born at term with spastic diplegia had heterogeneous and unidentified pathophysiology. © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.

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…

Executive Functioning and Learning Skills of Adolescent Children Born at Fewer than 26 Weeks of Gestation.

Directory of Open Access Journals (Sweden)

A Farooqi

neurodevelopmental disabilities. Even mild to moderate executive dysfunctions has a significant impact on learning skills. These findings suggest the need for timely interventions that address specific cognitive vulnerabilities and executive dysfunctions.

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

2013-12-01

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 of

Do children born to teenage parents have lower adult intelligence? A prospective birth cohort study.

Science.gov (United States)

Khatun, Mohsina; Al Mamun, Abdullah; Scott, James; William, Gail M; Clavarino, Alexandra; Najman, Jake M

2017-01-01

Teenage motherhood has been associated with a wide variety of negative offspring outcomes including poorer cognitive development. In the context of limitations of previous research, this paper assesses the contemporary relevance of this finding. In this study we investigate the long-term cognitive status (IQ) among 21 year adult offspring born to teenage parents using the Mater University Study of Pregnancy- a prospective birth cohort study, which recruited all pregnant mothers attending a large obstetrical hospital in Brisbane, Australia, from 1981 to 1983. The analyses were restricted to a sub-sample of 2643 mother-offspring pair. Offspring IQ was measured using the Peabody Picture Vocabulary Test at 21 year. Parental age was reported at first clinic visit. Offspring born to teenage mothers (parental socioeconomic status, maternal IQ, maternal smoking and binge drinking in pregnancy, birthweight, breastfeeding and parenting style attenuates the association, though the effect remains statistically significant (-1.4 IQ points; 95% CI: -2.8,-0.1). Similarly the risk of offspring having low IQ remained marginally significantly higher in those born to teenage mothers (OR 1.3; 95% CI: 1.0, 1.9). In contrast, teenage fatherhood is not associated with adult offspring IQ, when adjusted for maternal age. Although the reduction in IQ is quantitatively small, it is indicative of neurodevelopmental disadvantage experienced by the young adult offspring of teenage mothers. Our results suggest that public policy initiatives should be targeted not only at delaying childbearing in the population but also at supporting early life condition of children born to teenage mothers to minimize the risk for disadvantageous outcomes of the next generation.

Hypospadias and increased risk for neurodevelopmental disorders

OpenAIRE

Butwicka, Agnieszka; Lichtenstein, Paul; Landén, Mikael; Nordenvall, Anna; Nordenström, Anna; Nordenskjöld, Agneta; Frisén, Louise

2014-01-01

BACKGROUND: Hypospadias (aberrant opening of the urethra on the underside of the penis) occurs in 1 per 300 newborn boys. It has been previously unknown whether this common malformation is associated with increased psychiatric morbidity later in life. Studies of individuals with hypospadias also provide an opportunity to examine whether difference in androgen signaling is related to neurodevelopmental disorders. To elucidate the mechanisms behind ...

Negative subthreshold psychotic symptoms distinguish 22q11.2 deletion syndrome from other neurodevelopmental disorders: A two-site study.

Science.gov (United States)

Mekori-Domachevsky, Ehud; Guri, Yael; Yi, James; Weisman, Omri; Calkins, Monica E; Tang, Sunny X; Gross, Raz; McDonald-McGinn, Donna M; Emanuel, Beverly S; Zackai, Elaine H; Zalsman, Gil; Weizman, Abraham; Gur, Ruben C; Gur, Raquel E; Gothelf, Doron

2017-10-01

About one third of individuals with 22q11.2 deletion syndrome (22q11.2DS) develop schizophrenia. Notably, a full-blown psychotic disorder is usually preceded by subthreshold symptoms. Therefore, it is important to identify early signs of psychosis in this population, a task that is complicated by the intellectual disabilities typically seen in 22q11.2DS. We aimed to identify subthreshold psychotic symptoms that distinguish 22q11.2DS from other neurodevelopmental disorders. The study included two independent cohorts from Tel Aviv and Philadelphia. 22q11.2DS (N=171) and typically developing (TD; N=832) individuals were enrolled at both sites and further compared to two groups with intellectual disabilities: Williams syndrome (WS; N=21) in the Tel Aviv cohort and idiopathic developmental disabilities (IDD; N=129) in the Philadelphia cohort. Participants and their primary caregivers were interviewed with the Structured Interview for Prodromal Symptoms (SIPS) and psychopathologies were assessed using standardized tools; general cognitive abilities were assessed with the Computerized Neurocognitive Battery. Negative/disorganized subthreshold syndrome was significantly more common in the 22q11.2DS group than in the WS (OR=3.90, 95% CI=1.34-11.34) or IDD (OR=5.05, 95% CI=3.01-10.08) groups. The 22q11.2DS group had higher scores than the two intellectual disabilities groups on several SIPS negative items, including avolition and decreased expression of emotion. Overall, there were few significant correlations between level of cognitive deficits and severity of negative symptoms in 22q11.2DS and only in the Tel Aviv cohort. Our findings suggest that 22q11.2DS individuals at the age of risk for developing psychosis should be closely monitored for negative symptoms. Copyright © 2016 Elsevier B.V. All rights reserved.

Different Neurodevelopmental Symptoms Have a Common Genetic Etiology

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Pettersson, Erik; Anckarsäter, Henrik; Gillberg, Christopher; Lichtenstein, Paul

2013-01-01

Background: Although neurodevelopmental disorders are demarcated as discrete entities in the Diagnostic Statistical Manual of mental disorders, empirical evidence indicates that there is a high degree of overlap among them. The first aim of this investigation was to explore if a single general factor could account for the large degree of observed…

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

African Journals Online (AJOL)

South African Journal of Child Health ... (p=0.026). This difference is probably a result of cultural differences between the groups, as 76% of HEU and only 15% of HUU participants were of Xhosa origin. Discussion. There was no difference in neurodevelopmental outcome at 18 months between the HEU and HUU groups.

Auditory Processing Learning Disability, Suicidal Ideation, and Transformational Faith

Science.gov (United States)

Bailey, Frank S.; Yocum, Russell G.

2015-01-01

The purpose of this personal experience as a narrative investigation is to describe how an auditory processing learning disability exacerbated--and how spirituality and religiosity relieved--suicidal ideation, through the lived experiences of an individual born and raised in the United States. The study addresses: (a) how an auditory processing…

Neurodevelopmental Delay Diagnosis Rates Are Increased in a Region with Aerial Pesticide Application

Directory of Open Access Journals (Sweden)

Steven D. Hicks

2017-05-01

Full Text Available A number of studies have implicated pesticides in childhood developmental delay (DD and autism spectrum disorder (ASD. The influence of the route of pesticide exposure on neurodevelopmental delay is not well defined. To study this factor, we examined ASD/DD diagnoses rates in an area near our regional medical center that employs yearly aerial pyrethroid pesticide applications to combat mosquito-borne encephalitis. The aim of this study was to determine if areas with aerial pesticide exposure had higher rates of ASD/DD diagnoses. This regional study identified higher rates of ASD/DD diagnoses in an area with aerial pesticides application. Zip codes with aerial pyrethroid exposure were 37% more likely to have higher rates of ASD/DD (adjusted RR = 1.37, 95% CI = 1.06–1.78, p = 0.02. A Poisson regression model controlling for regional characteristics (poverty, pesticide use, population density, and distance to medical center, subject characteristics (race and sex, and local birth characteristics (prematurity, low birthweight, and birth rates identified a significant relationship between aerial pesticide use and ASD/DD rates. The relationship between pesticide application and human neurodevelopment deserves additional study to develop safe and effective methods of mosquito prevention, particularly as communities develop plans for Zika virus control.

Neurodevelopmental Delay Diagnosis Rates Are Increased in a Region with Aerial Pesticide Application.

Science.gov (United States)

Hicks, Steven D; Wang, Ming; Fry, Katherine; Doraiswamy, Vignesh; Wohlford, Eric M

2017-01-01

A number of studies have implicated pesticides in childhood developmental delay (DD) and autism spectrum disorder (ASD). The influence of the route of pesticide exposure on neurodevelopmental delay is not well defined. To study this factor, we examined ASD/DD diagnoses rates in an area near our regional medical center that employs yearly aerial pyrethroid pesticide applications to combat mosquito-borne encephalitis. The aim of this study was to determine if areas with aerial pesticide exposure had higher rates of ASD/DD diagnoses. This regional study identified higher rates of ASD/DD diagnoses in an area with aerial pesticides application. Zip codes with aerial pyrethroid exposure were 37% more likely to have higher rates of ASD/DD (adjusted RR = 1.37, 95% CI = 1.06-1.78, p  = 0.02). A Poisson regression model controlling for regional characteristics (poverty, pesticide use, population density, and distance to medical center), subject characteristics (race and sex), and local birth characteristics (prematurity, low birthweight, and birth rates) identified a significant relationship between aerial pesticide use and ASD/DD rates. The relationship between pesticide application and human neurodevelopment deserves additional study to develop safe and effective methods of mosquito prevention, particularly as communities develop plans for Zika virus control.

Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures

Science.gov (United States)

Baple, Emma L.; Maroofian, Reza; Chioza, Barry A.; Izadi, Maryam; Cross, Harold E.; Al-Turki, Saeed; Barwick, Katy; Skrzypiec, Anna; Pawlak, Robert; Wagner, Karin; Coblentz, Roselyn; Zainy, Tala; Patton, Michael A.; Mansour, Sahar; Rich, Phillip; Qualmann, Britta; Hurles, Matt E.; Kessels, Michael M.; Crosby, Andrew H.

2014-01-01

The proper development of neuronal circuits during neuromorphogenesis and neuronal-network formation is critically dependent on a coordinated and intricate series of molecular and cellular cues and responses. Although the cortical actin cytoskeleton is known to play a key role in neuromorphogenesis, relatively little is known about the specific molecules important for this process. Using linkage analysis and whole-exome sequencing on samples from families from the Amish community of Ohio, we have demonstrated that mutations in KPTN, encoding kaptin, cause a syndrome typified by macrocephaly, neurodevelopmental delay, and seizures. Our immunofluorescence analyses in primary neuronal cell cultures showed that endogenous and GFP-tagged kaptin associates with dynamic actin cytoskeletal structures and that this association is lost upon introduction of the identified mutations. Taken together, our studies have identified kaptin alterations responsible for macrocephaly and neurodevelopmental delay and define kaptin as a molecule crucial for normal human neuromorphogenesis. PMID:24239382

Maternal obesity and neurodevelopmental and psychiatric disorders in offspring

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Edlow, Andrea G.

2017-01-01

There is a growing body of evidence from both human epidemiologic and animal studies that prenatal and lactational exposure to maternal obesity and high-fat diet are associated with neurodevelopmental and psychiatric disorders in offspring. These disorders include cognitive impairment, autism spectrum disorders, attention deficit hyperactivity disorder, cerebral palsy, anxiety and depression, schizophrenia, and eating disorders. This review synthesizes human and animal data linking maternal obesity and high-fat diet consumption to abnormal fetal brain development and neurodevelopmental and psychiatric morbidity in offspring. In addition, it highlights key mechanisms by which maternal obesity and maternal diet might impact fetal and offspring neurodevelopment, including neuroinflammation; increased oxidative stress, dysregulated insulin, glucose, and leptin signaling; dysregulated serotonergic and dopaminergic signaling; and perturbations in synaptic plasticity. Finally, the review summarizes available evidence regarding investigational therapeutic approaches to mitigate the harmful effects of maternal obesity on fetal and offspring neurodevelopment. PMID:27684946

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

OpenAIRE

Wade, Mark; Prime, Heather; Madigan, Sheri

2015-01-01

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. Speci...

Born too soon: preterm birth matters.

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Howson, Christopher P; Kinney, Mary V; McDougall, Lori; Lawn, Joy E

2013-01-01

Urgent action is needed to address preterm birth given that the fi rst country-level estimates show that globally 15 million babies are born too soon and rates are increasing in most countries with reliable time trend data. As the fi rst in a supplement entitled “Born Too Soon”, this paper focuses on the global policy context. Preterm birth is critical for progress on Millennium Development Goal 4 (MDG) for child survival by 2015 and beyond, and gives added value to maternal health (MDG 5) investments also linking to non-communicable diseases. For preterm babies who survive, the additional burden of prematurity-related disability may aff ect families and health systems. Prematurity is an explicit priority in many high-income settings; however, more attention is needed especially in low- and middle-income countries where the invisibility of preterm birth as well as its myths and misconceptions have slowed action on prevention and care. Recent global attention to preterm birth hit a tipping point in 2012, with the May 2 publication of Born Too Soon: The Global Action Report on Preterm Birth and with the 2nd annual World Prematurity Day on November 17 which mobilised the actions of partners in many countries to address preterm birth and newborn health. Interventions to strengthen preterm birth prevention and care span the continuum of care for reproductive, maternal, newborn and child health. Both prevention of preterm birth and implementation of care of premature babies require more research, as well as more policy attention and programmatic investment.

The Birth of a Child with Disability. Coping by Parents and Siblings

OpenAIRE

Kandel, Isack; Merrick, Joav

2003-01-01

When a child is born, the life of the family changes significantly and each of its members must adapt to the new situation. When the child is born with a disability, in addition to regular adaptation, the family must cope with stress, grief, disappointments, and challenges, which may lead to a serious crisis or even disruption of family life.Parents must coordinate assessments, evaluations, and various treatments while maintaining contact with many professionals and numerous institutions or s...

Factors affecting neurodevelopmental outcome at 2 years in very preterm infants below 1250 grams: a prospective study.

Science.gov (United States)

Agarwal, Pratibha Keshav; Shi, Luming; Rajadurai, Victor Samuel; Zheng, Qishi; Yang, Phey Hong; Khoo, Poh Choo; Quek, Bin Huey; Daniel, Lourdes Mary

2018-06-01

To evaluate the neurodevelopmental outcomes of preterm very-low birth weight (PT/VLBW) infants at 2 years and identify risk factors associated with significant developmental delay or neurodevelopmental impairment (NDI). We evaluated 165 PT/VLBW infants born between January 2010 and December 2011, using the Bayley Scales of Infant and Toddler Development 3rd Edition (Bayley-III). NDI was defined as the presence of neurosensory impairment or significant delay with Bayley-III score deaf and none were blind. Regression models identified significant positive associations of delayed cognitive skills with male gender (Odds ratio (OR) 22.4, 95% confidence interval (CI) 1.5-341.1; P = 0.025), lack of anntenatal steroids (ANS) (OR 41.5, 95% CI 3.5-485.7; P = 0.003), and hypotension needing inotropes (OR 36.0, 95% CI 2.6-506.0; P = 0.008); delayed language skills with lower maternal education (OR 3.8, 95% CI 1.4-10.3; P = 0.10), lack of ANS (OR 2.8, 95% CI 1.1-7.4; P = 0.04), and 5 minute Apgar Score ≤ 5 (OR 7.4, 95% CI 1.4-38.4; P = 0.017) and delayed motor skills with chronic lung disease at 36 weeks (OR 38.3, 95% CI 2.4-603.4; P = 0.010). NDI was associated with lack of ANS (OR 2.91, 95% CI 1.21-7.00; P = 0.02) and use of postnatal steroids (OR 3.36, 95% CI 1.07-10.54; P = 0.0374). Risk factors for both NDI and individual domain delay were identified and will be helpful in planning of specific and targeted early intervention services.

Epigenetic Mechanisms and Therapeutic Perspectives for Neurodevelopmental Disorders

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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.

High glucose variability is associated with poor neurodevelopmental outcomes in neonatal hypoxic ischemic encephalopathy.

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Al Shafouri, N; Narvey, M; Srinivasan, G; Vallance, J; Hansen, G

2015-01-01

In neonatal hypoxic ischemic encephalopathy (HIE), hypo- and hyperglycemia have been associated with poor outcomes. However, glucose variability has not been reported in this population. To examine the association between serum glucose variability within the first 24 hours and two-year neurodevelopmental outcomes in neonates cooled for HIE. In this retrospective cohort study, glucose, clinical and demographic data were documented from 23 term newborns treated with whole body therapeutic hypothermia. Severe neurodevelopmental outcomes from planned two-year assessments were defined as the presence of any one of the following: Gross Motor Function Classification System levels 3 to 5, Bayley III Motor Standard Score neurodevelopmental outcomes from 8 of 23 patients were considered severe, and this group demonstrated a significant increase of mean absolute glucose (MAG) change (-0.28 to -0.03, 95% CI, p = 0.032). There were no significant differences between outcome groups with regards to number of patients with hyperglycemic means, one or multiple hypo- or hyperglycemic measurement(s). There were also no differences between both groups with mean glucose, although mean glucose standard deviation was approaching significance. Poor neurodevelopmental outcomes in whole body cooled HIE neonates are significantly associated with MAG changes. This information may be relevant for prognostication and potential management strategies.

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

NARCIS (Netherlands)

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

2012-01-01

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

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…

Age at migration and disability-free life expectancy among the elder Mexican-origin population

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Marc Garcia

2016-12-01

Full Text Available Background: Migration selectivity is thought to shape the health profiles of Mexican immigrants. Objective: This study examines how the experience of Mexican migration to the United States affects the health process and the quality of life in old age by age at migration, specific to sex. Methods: We use 20 years of data from the Hispanic Established Populations for the Epidemiologic Study of the Elderly to estimate the proportion of life spent disability-free prior to death across eight subgroups by sex, nativity, and age at migration among Mexican-origin elderly in the United States. Results: Female migrants are at a significant disadvantage in terms of IADL disability-free life expectancy relative to US-born women, particularly late-life migrants. Conversely, mid- and late-life male migrants exhibit an advantage in ADL disability-free life expectancy compared to their US-born counterparts. Conclusions: Foreign-born Mexican elders are not a homogeneous group. This issue merits special attention in the development of community-based long-term care programs in order to appropriately target the specific needs of different subgroups of older Mexican individuals entering their last decades of life. Contribution: This study contributes to immigrant health literature by providing a more comprehensive documentation of nativity differentials, by distinguishing subgroups of Mexican elderly by sex, nativity, and age at migration.

Prominent extraaxial CSF space on cranial ultrasound in infants: correlation with neurodevelopmental outcome

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Kim, Bo Kyung; Lee, Mun Hyang; Yoon, Hye Kyung; Jung, Kyung Jae; Park, Won Soon; Chang, Yun Sil; Kim, Chan Gyo [Sungkyunkwan Univ. School of Medicine, Seoul (Korea, Republic of)

1999-08-01

To determine the clinical significance of prominent extra-axial CSF space (EACSFS) in infants, as seen on cranial ultrasound. Between March 1996 and November 1997, all infants who had undergone head ultrasound at our institution and were found to have prominent EACSFS were evaluated. The width of the interhemispheric fissure was measured at three locations at the level of the frontal horn, body and atrium of the lateral ventricles. The depth of the CSF space over the convexity was also measured. The average of these measurements was calculated and each patient was assigned to one of three groups: mild, moderate, or marked. Ultrasound findings were evaluated for other associated abnormalities. Clinical neurodevelopment was evaluated by a pediatric neurologist, and ultrasound and neurodevelopmental findings were correlated. Prominent EACSFS was found in 153 patients, and neurodevelopmental evaluation up to a corrected age of 9 months was available in 133. One hundred and eight of 117 infants with normal neurodevelopment had no other associated abnormality(n=81), or abnormality associated only with grade I subependymal hemorrhage or cyst(n=27). Twelve of 16 infants with an abnormal neurodevelopmental outcome had major abnormalities including PVL, grade IV hemorrhage, and marked ventriculomegaly. Prominent EACSFS alone does not appear to be clinically significant. An abnormal neurodevelopmental outcome is associated with major abnormalities seen on ultrasound. Follow-up examination for prominent EACSFS is not indicated unless the associated abnormality requires further evaluations.

Prominent extraaxial CSF space on cranial ultrasound in infants: correlation with neurodevelopmental outcome

International Nuclear Information System (INIS)

Kim, Bo Kyung; Lee, Mun Hyang; Yoon, Hye Kyung; Jung, Kyung Jae; Park, Won Soon; Chang, Yun Sil; Kim, Chan Gyo

1999-01-01

To determine the clinical significance of prominent extra-axial CSF space (EACSFS) in infants, as seen on cranial ultrasound. Between March 1996 and November 1997, all infants who had undergone head ultrasound at our institution and were found to have prominent EACSFS were evaluated. The width of the interhemispheric fissure was measured at three locations at the level of the frontal horn, body and atrium of the lateral ventricles. The depth of the CSF space over the convexity was also measured. The average of these measurements was calculated and each patient was assigned to one of three groups: mild, moderate, or marked. Ultrasound findings were evaluated for other associated abnormalities. Clinical neurodevelopment was evaluated by a pediatric neurologist, and ultrasound and neurodevelopmental findings were correlated. Prominent EACSFS was found in 153 patients, and neurodevelopmental evaluation up to a corrected age of 9 months was available in 133. One hundred and eight of 117 infants with normal neurodevelopment had no other associated abnormality(n=81), or abnormality associated only with grade I subependymal hemorrhage or cyst(n=27). Twelve of 16 infants with an abnormal neurodevelopmental outcome had major abnormalities including PVL, grade IV hemorrhage, and marked ventriculomegaly. Prominent EACSFS alone does not appear to be clinically significant. An abnormal neurodevelopmental outcome is associated with major abnormalities seen on ultrasound. Follow-up examination for prominent EACSFS is not indicated unless the associated abnormality requires further evaluations

Neurodevelopmental malformations of the cerebellar vermis in genetically engineered rats

Science.gov (United States)

The cerebellar vermis is particularly vulnerable to neurodevelopmental malformations in humans and rodents. Sprague-Dawley, and Long-Evans rats exhibit spontaneous cerebellar malformations consisting of heterotopic neurons and glia in the molecular layer of the vermis. Malformati...

Language development in preschool children born after asymmetrical intrauterine growth retardation.

Science.gov (United States)

Simić Klarić, Andrea; Kolundžić, Zdravko; Galić, Slavka; Mejaški Bošnjak, Vlatka

2012-03-01

After intrauterine growth retardation, many minor neurodevelopmental disorders may occur, especially in the motor skills domain, language and speech development, and cognitive functions. The assessment of language development and impact of postnatal head growth in preschool children born with asymmetrical intrauterine growth retardation. Examinees were born at term with birth weight below the 10th percentile for gestational age, parity and gender. Mean age at the time of study was six years and four months. The control group was matched according to chronological and gestational age, gender and maternal education with mean age six years and five months. There were 50 children with intrauterine growth retardation and 50 controls, 28 girls and 22 boys in each group. For the assessment of language development Reynell Developmental Language Scale, the Naming test and Mottier test were performed. There were statistically significant differences (p language comprehension, total expressive language (vocabulary, structure, content), naming skills and non-words repetition. Statistically significant positive correlations were found between relative growth of the head [(Actual head circumference - head circumference at birth)/(Body weight - birth weight)] and language outcome. Children with neonatal complications had lower results (p language comprehension and total expressive language. Intrauterine growth retardation has a negative impact on language development which is evident in preschool years. Slow postnatal head growth is correlated with poorer language outcome. Neonatal complications were negatively correlated with language comprehension and total expressive language. Copyright © 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Understanding Neurodevelopmental Disorders: The Promise of Regulatory Variation in the 3'UTRome.

Science.gov (United States)

Wanke, Kai A; Devanna, Paolo; Vernes, Sonja C

2018-04-01

Neurodevelopmental disorders have a strong genetic component, but despite widespread efforts, the specific genetic factors underlying these disorders remain undefined for a large proportion of affected individuals. Given the accessibility of exome sequencing, this problem has thus far been addressed from a protein-centric standpoint; however, protein-coding regions only make up ∼1% to 2% of the human genome. With the advent of whole genome sequencing we are in the midst of a paradigm shift as it is now possible to interrogate the entire sequence of the human genome (coding and noncoding) to fill in the missing heritability of complex disorders. These new technologies bring new challenges, as the number of noncoding variants identified per individual can be overwhelming, making it prudent to focus on noncoding regions of known function, for which the effects of variation can be predicted and directly tested to assess pathogenicity. The 3'UTRome is a region of the noncoding genome that perfectly fulfills these criteria and is of high interest when searching for pathogenic variation related to complex neurodevelopmental disorders. Herein, we review the regulatory roles of the 3'UTRome as binding sites for microRNAs or RNA binding proteins, or during alternative polyadenylation. We detail existing evidence that these regions contribute to neurodevelopmental disorders and outline strategies for identification and validation of novel putatively pathogenic variation in these regions. This evidence suggests that studying the 3'UTRome will lead to the identification of new risk factors, new candidate disease genes, and a better understanding of the molecular mechanisms contributing to neurodevelopmental disorders. Copyright © 2017 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

Treatments for Neurodevelopmental Disorders: Evidence, Advocacy, and the Internet

Science.gov (United States)

Di Pietro, Nina C.; Whiteley, Louise; Mizgalewicz, Ania; Illes, Judy

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…

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries

Science.gov (United States)

Talkowski, Michael E.; Rosenfeld, Jill A.; Blumenthal, Ian; Pillalamarri, Vamsee; Chiang, Colby; Heilbut, Adrian; Ernst, Carl; Hanscom, Carrie; Rossin, Elizabeth; Lindgren, Amelia; Pereira, Shahrin; Ruderfer, Douglas; Kirby, Andrew; Ripke, Stephan; Harris, David; Lee, Ji-Hyun; Ha, Kyungsoo; Kim, Hyung-Goo; Solomon, Benjamin D.; Gropman, Andrea L.; Lucente, Diane; Sims, Katherine; Ohsumi, Toshiro K.; Borowsky, Mark L.; Loranger, Stephanie; Quade, Bradley; Lage, Kasper; Miles, Judith; Wu, Bai-Lin; Shen, Yiping; Neale, Benjamin; Shaffer, Lisa G.; Daly, Mark J.; Morton, Cynthia C.; Gusella, James F.

2012-01-01

SUMMARY Balanced chromosomal abnormalities (BCAs) represent a reservoir of single gene disruptions in neurodevelopmental disorders (NDD). We sequenced BCAs in autism and related NDDs, revealing disruption of 33 loci in four general categories: 1) genes associated with abnormal neurodevelopment (e.g., AUTS2, FOXP1, CDKL5), 2) single gene contributors to microdeletion syndromes (MBD5, SATB2, EHMT1, SNURF-SNRPN), 3) novel risk loci (e.g., CHD8, KIRREL3, ZNF507), and 4) genes associated with later onset psychiatric disorders (e.g., TCF4, ZNF804A, PDE10A, GRIN2B, ANK3). We also discovered profoundly increased burden of copy number variants among 19,556 neurodevelopmental cases compared to 13,991 controls (p = 2.07×10−47) and enrichment of polygenic risk alleles from autism and schizophrenia genome-wide association studies (p = 0.0018 and 0.0009, respectively). Our findings suggest a polygenic risk model of autism incorporating loci of strong effect and indicate that some neurodevelopmental genes are sensitive to perturbation by multiple mutational mechanisms, leading to variable phenotypic outcomes that manifest at different life stages. PMID:22521361

Neurodevelopmental Outcome of Young Children with Biliary Atresia and Native Liver: Results from the ChiLDReN Study.

Science.gov (United States)

Ng, Vicky L; Sorensen, Lisa G; Alonso, Estella M; Fredericks, Emily M; Ye, Wen; Moore, Jeff; Karpen, Saul J; Shneider, Benjamin L; Molleston, Jean P; Bezerra, Jorge A; Murray, Karen F; Loomes, Kathleen M; Rosenthal, Philip; Squires, Robert H; Wang, Kasper; Arnon, Ronen; Schwarz, Kathleen B; Turmelle, Yumirle P; Haber, Barbara H; Sherker, Averell H; Magee, John C; Sokol, Ronald J

2018-05-01

To assess neurodevelopmental outcomes among participants with biliary atresia with their native liver at ages 12 months (group 1) and 24 months (group 2), and to evaluate variables predictive of neurodevelopmental impairment. Participants enrolled in a prospective, longitudinal, multicenter study underwent neurodevelopmental testing with either the Bayley Scales of Infant Development, 2nd edition, or Bayley Scales of Infant and Toddler Development, 3rd edition. Scores (normative mean = 100 ± 15) were categorized as ≥100, 85-99, and Development, 2nd edition, or Bayley Scales of Infant and Toddler Development, 3rd edition, scales) was analyzed using logistic regression. There were 148 children who completed 217 Bayley Scales of Infant and Toddler Development, 3rd edition, examinations (group 1, n = 132; group 2, n = 85). Neurodevelopmental score distributions significantly shifted downward compared with test norms at 1 and 2 years of age. Multivariate analysis identified ascites (OR, 3.17; P = .01) and low length z-scores at time of testing (OR, 0.70; P cognitive/language impairment at 1 year of age. An unsuccessful hepatoportoenterostomy was predictive of both physical/motor (OR, 4.88; P cognitive/language impairment (OR, 4.76; P = .02) at 2 years of age. Participants with biliary atresia surviving with native livers after hepatoportoenterostomy are at increased risk for neurodevelopmental delays at 12 and 24 months of age. Those with unsuccessful hepatoportoenterostomy are >4 times more likely to have neurodevelopmental impairment compared with those with successful hepatoportoenterostomy. Growth delays and/or complications indicating advanced liver disease should alert clinicians to the risk for neurodevelopmental delays, and expedite appropriate interventions. Clinicaltrials.gov: NCT00061828 and NCT00294684. Copyright © 2018 Elsevier Inc. All rights reserved.

Translating Neurodevelopmental Care Policies Into Practice: The Experience of Neonatal ICUs in France-The EPIPAGE-2 Cohort Study.

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Pierrat, Veronique; Coquelin, Anaëlle; Cuttini, Marina; Khoshnood, Babak; Glorieux, Isabelle; Claris, Olivier; Durox, Mélanie; Kaminski, Monique; Ancel, Pierre-Yves; Arnaud, Catherine

2016-10-01

To describe the implementation of neurodevelopmental care for newborn preterm infants in neonatal ICUs in France in 2011, analyze changes since 2004, and investigate factors associated with practice. Prospective national cohort study of all births before 32 weeks of gestation. Twenty-five French regions. All neonatal ICUs (n = 66); neonates surviving at discharge (n = 3,005). None. Neurodevelopmental care policies and practices were assessed by structured questionnaires. Proportions of neonates initiating kangaroo care during the first week of life and those whose mothers expressed breast milk were measured as neurodevelopmental care practices. Multilevel logistic regression analyses were used to investigate relationships between kangaroo care or breast-feeding practices and unit policies, taking into account potential confounders. Free visiting policies, bed availability for parents, and kangaroo care encouragement significantly improved between 2004 and 2011 but with large variabilities between units. Kangaroo care initiation varied from 39% for neonates in the most restrictive units to 68% in less restrictive ones (p neurodevelopmental care significantly influenced kangaroo care initiation (odds ratio, 3.5; 95% CI, 1.8-7.0 for Newborn Individualized Developmental Care and Assessment Program implementation compared with no training). Breast milk expression by mothers was greater in units with full-time availability professionals trained for breast-feeding support (60% vs 73%; p neurodevelopmental practices occurred between 2004 and 2011, but large variabilities between units persist. Practices increased in units with supportive policies. Specific neurodevelopmental care training with multifaceted interventions strengthened the implementation of policies.

Improving treatment of neurodevelopmental disorders: recommendations based on preclinical studies

NARCIS (Netherlands)

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

2016-01-01

INTRODUCTION: Neurodevelopmental disorders (NDDs) are common and severely debilitating. Their chronic nature and reliance on both genetic and environmental factors makes studying NDDs and their treatment a challenging task. AREAS COVERED: Herein, the authors discuss the neurobiological mechanisms of

Do children born to teenage parents have lower adult intelligence? A prospective birth cohort study.

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Mohsina Khatun

Full Text Available Teenage motherhood has been associated with a wide variety of negative offspring outcomes including poorer cognitive development. In the context of limitations of previous research, this paper assesses the contemporary relevance of this finding. In this study we investigate the long-term cognitive status (IQ among 21 year adult offspring born to teenage parents using the Mater University Study of Pregnancy- a prospective birth cohort study, which recruited all pregnant mothers attending a large obstetrical hospital in Brisbane, Australia, from 1981 to 1983. The analyses were restricted to a sub-sample of 2643 mother-offspring pair. Offspring IQ was measured using the Peabody Picture Vocabulary Test at 21 year. Parental age was reported at first clinic visit. Offspring born to teenage mothers (<20 years have -3.0 (95% Confidence Interval (CI: -4.3, -1.8 points lower IQ compared to children born to mothers ≥20 years and were more likely to have a low IQ (Odds Ratio (OR 1.7; 95% CI: 1.3, 2.3. Adjustment for a range of confounding and mediating factors including parental socioeconomic status, maternal IQ, maternal smoking and binge drinking in pregnancy, birthweight, breastfeeding and parenting style attenuates the association, though the effect remains statistically significant (-1.4 IQ points; 95% CI: -2.8,-0.1. Similarly the risk of offspring having low IQ remained marginally significantly higher in those born to teenage mothers (OR 1.3; 95% CI: 1.0, 1.9. In contrast, teenage fatherhood is not associated with adult offspring IQ, when adjusted for maternal age. Although the reduction in IQ is quantitatively small, it is indicative of neurodevelopmental disadvantage experienced by the young adult offspring of teenage mothers. Our results suggest that public policy initiatives should be targeted not only at delaying childbearing in the population but also at supporting early life condition of children born to teenage mothers to minimize the risk

New insights into the role of motion and form vision in neurodevelopmental disorders.

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Johnston, Richard; Pitchford, Nicola J; Roach, Neil W; Ledgeway, Timothy

2017-12-01

A selective deficit in processing the global (overall) motion, but not form, of spatially extensive objects in the visual scene is frequently associated with several neurodevelopmental disorders, including preterm birth. Existing theories that proposed to explain the origin of this visual impairment are, however, challenged by recent research. In this review, we explore alternative hypotheses for why deficits in the processing of global motion, relative to global form, might arise. We describe recent evidence that has utilised novel tasks of global motion and global form to elucidate the underlying nature of the visual deficit reported in different neurodevelopmental disorders. We also examine the role of IQ and how the sex of an individual can influence performance on these tasks, as these are factors that are associated with performance on global motion tasks, but have not been systematically controlled for in previous studies exploring visual processing in clinical populations. Finally, we suggest that a new theoretical framework is needed for visual processing in neurodevelopmental disorders and present recommendations for future research. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.

Neurodevelopmental outcomes in infants exposed in utero to antipsychotics: a systematic review of published data.

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Gentile, Salvatore; Fusco, Maria Luigia

2017-06-01

The proportion of pregnancies exposed to either second-generation antipsychotics (SGAs) or first-generation antipsychotics (FGAs) varies between 0.3%-2% of all pregnancies, but, until now, little is known about the potential neurobehavioral teratogenicity of antipsychotics. Assessing this safety facet is the aim of this article. PubMed, Scopus, and Google Scholar were searched for eligible articles. PubMed (1954 to May 2016) was searched using several medical subject headings, variously combined. PubMed search results were also limited using the search filter for human studies published in English. Scopus and Google Scholar searches were filtered for article title (antipsychotics/neuroleptics, pregnancy). After excluding duplicates, 9,250 articles were identified and 29 met the following inclusion criteria: only articles that provided original/primary data on neurodevelopmental outcome in human offspring older than 4 months of age, independently of the study design, were selected for review. Indeed, some relevant neurodevelopmental milestones are achieved at this time. Length of study and neurodevelopmental assessment methodology did not influence the study selection. Unfortunately, published data on neurodevelopmental teratogenicity of SGAs mainly derive from case reports and small case-series studies. Even findings emerging from case-control and prospective/retrospective studies are of limited clinical relevance because of their small sample sizes. Limited data are also available on FGAs. Hence, we have to conclude that the long-term neurodevelopmental outcomes for children exposed in utero remain unclear. Low to very low quality evidence of retrieved data makes impossible to confirm or exclude potential long-lasting untoward effects on infant neurocognitive development associate with antenatal exposure to either SGAs or FGAs.

Translating Neurodevelopmental Care Policies Into Practice: The Experience of Neonatal ICUs in France—The EPIPAGE-2 Cohort Study

Science.gov (United States)

Coquelin, Anaëlle; Cuttini, Marina; Khoshnood, Babak; Glorieux, Isabelle; Claris, Olivier; Durox, Mélanie; Kaminski, Monique; Ancel, Pierre-Yves; Arnaud, Catherine

2016-01-01

Objectives: To describe the implementation of neurodevelopmental care for newborn preterm infants in neonatal ICUs in France in 2011, analyze changes since 2004, and investigate factors associated with practice. Design: Prospective national cohort study of all births before 32 weeks of gestation. Setting: Twenty-five French regions. Participants: All neonatal ICUs (n = 66); neonates surviving at discharge (n = 3,005). Interventions: None. Measurements and Main Results: Neurodevelopmental care policies and practices were assessed by structured questionnaires. Proportions of neonates initiating kangaroo care during the first week of life and those whose mothers expressed breast milk were measured as neurodevelopmental care practices. Multilevel logistic regression analyses were used to investigate relationships between kangaroo care or breast-feeding practices and unit policies, taking into account potential confounders. Free visiting policies, bed availability for parents, and kangaroo care encouragement significantly improved between 2004 and 2011 but with large variabilities between units. Kangaroo care initiation varied from 39% for neonates in the most restrictive units to 68% in less restrictive ones (p neurodevelopmental care significantly influenced kangaroo care initiation (odds ratio, 3.5; 95% CI, 1.8–7.0 for Newborn Individualized Developmental Care and Assessment Program implementation compared with no training). Breast milk expression by mothers was greater in units with full-time availability professionals trained for breast-feeding support (60% vs 73%; p neurodevelopmental practices occurred between 2004 and 2011, but large variabilities between units persist. Practices increased in units with supportive policies. Specific neurodevelopmental care training with multifaceted interventions strengthened the implementation of policies. PMID:27518584

Maternal Thyroid Function in Early Pregnancy and Child Neurodevelopmental Disorders

DEFF Research Database (Denmark)

Andersen, Stine Linding; Andersen, Stig; Vestergaard, Peter

2018-01-01

of abnormal maternal thyroid function was 12.5% in the sub-cohort and significantly higher among cases of ASD (17.9%; aHR = 1.5 [CI 1.1-2.1]), but not among other types of neurodevelopmental disorders (febrile seizures: 12.7%; epilepsy: 13.1%; SDD: 12.6%; and ADHD: 14.0%). However, evaluation of subtypes......: The design was a case-cohort study within the Danish National Birth Cohort (1997-2003). From the eligible cohort of 71,706 women, a random 12% sub-cohort (n = 7624) was selected, and all women (n = 2276) whose child was diagnosed with seizures, specific developmental disorder (SDD), autism spectrum disorder......BACKGROUND: Maternal thyroid dysfunction may adversely affect fetal brain development, but more evidence is needed to refine this hypothesis. The aim of this study was to evaluate potential fetal programming by abnormal maternal thyroid function on child neurodevelopmental disorders. METHODS...

Therapeutic Targets for Neurodevelopmental Disorders Emerging from Animal Models with Perinatal Immune Activation

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Daisuke Ibi

2015-11-01

Full Text Available Increasing epidemiological evidence indicates that perinatal infection with various viral pathogens enhances the risk for several psychiatric disorders. The pathophysiological significance of astrocyte interactions with neurons and/or gut microbiomes has been reported in neurodevelopmental disorders triggered by pre- and postnatal immune insults. Recent studies with the maternal immune activation or neonatal polyriboinosinic polyribocytidylic acid models of neurodevelopmental disorders have identified various candidate molecules that could be responsible for brain dysfunction. Here, we review the functions of several candidate molecules in neurodevelopment and brain function and discuss their potential as therapeutic targets for psychiatric disorders.

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.

Disruption in a Neurodevelopmental Model of Schizophrenia

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Benjamin Rolland

2012-01-01

Full Text Available Oxidative stress has been implicated in neurodevelopmental theories of schizophrenia. Antioxidant Peroxysome Proliferator-Activated Receptors α (PPARα agonist fenofibrate has neuroprotective properties and could reverse early preclinical infringements that could trigger the illness. We have evaluated the neuroprotective interest of fenofibrate in a neurodevelopmental rat model of schizophrenia. The oxidative lesion induced by Kainic Acid (KA injection at postnatal day (PND 7 has previously been reported to disrupt Prepulse Inhibition (PPI at PND56 but not at PND35. In 4 groups of 15 male rats each, KN (KA-PND7 + normal postweaning food, KF (KA-PND7 + fenofibrate 0.2% food, ON (saline-PND7 + normal food, and OF (saline + fenofibrate food, PPI was recorded at PND35 and PND56. Three levels of prepulse were used: 73 dB, 76 dB, and 82 dB for a pulse at 120 dB. Four PPI scores were analyzed: PPI73, PPI76, PPI82, and mean PPI (PPIm. Two-way ANOVAs were used to evaluate the effects of both factors (KA + fenofibrate, and, in case of significant results, intergroup Student’s t-tests were performed. We notably found a significant difference (P<0.05 in PPIm between groups KN and KF at PND56, which supposes that fenofibrate could be worthy of interest for early neuroprotection in schizophrenia.

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

Science.gov (United States)

Durlak, Wojciech; Herman-Sucharska, Izabela; Urbanik, Andrzej; Klimek, Małgorzata; Karcz, Paulina; Dutkowska, Grażyna; Nitecka, Magdalena; Kwinta, Przemko

2016-01-01

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.

RISK FACTORS AND EARLY DEVELOPMENT OF CHILDREN BORN WITH AN ASSISTED FERTILIZATION

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Milena MILICHEVIKJ

2011-09-01

Full Text Available The aim of this paper is to present a systematic literature review of the researches conducted in the area of risk factors and difficulties in the early development of children born after assisted conception, to systematize current knowledge in this field and allocate the factors of importance for the early intervention.In order to evaluate the published data on risk factors and early development of children born after assisted conception, an extensive literature search was conducted to identify the published papers related to the obstetric and neonatal outcome of pregnancies after assisted repro­duction technology, the incidence of multiple pregnancy and the risk of preterm delivery, the neonatal status, the mean gestational age, the average birth weight, the neuro-developmental outcomes and early cognitive and motor development. The research identified the following factors as the most important for the early intervention: increased rates of multiple gestations, prematurity, delivery by cesarean section, lower average gestational development and average birth weight, small fetal development for gestational age and low Apgar score, related to the an increased risk of developing neurological problems, such as the cerebral palsy.Accepting this research results, it can be concluded that all of these information should be available for couples seeking an Assisted Reproductive Technology (ART treatment.The success of the early intervention is directly related to the early detection and assessment that precedes this treatment, creating individual programs and evaluation of the effects of the treatment.

Neurobehaviour between birth and 40 weeks' gestation in infants born parental psychological wellbeing: predictors of brain development and child outcomes.

Science.gov (United States)

Spittle, Alicia J; Thompson, Deanne K; Brown, Nisha C; Treyvaud, Karli; Cheong, Jeanie L Y; Lee, Katherine J; Pace, Carmen C; Olsen, Joy; Allinson, Leesa G; Morgan, Angela T; Seal, Marc; Eeles, Abbey; Judd, Fiona; Doyle, Lex W; Anderson, Peter J

2014-04-24

Infants born long term neurodevelopmental problems compared with term born peers. The predictive value of neurobehavioural examinations at term equivalent age in very preterm infants has been reported for subsequent impairment. Yet there is little knowledge surrounding earlier neurobehavioural development in preterm infants prior to term equivalent age, and how it relates to perinatal factors, cerebral structure, and later developmental outcomes. In addition, maternal psychological wellbeing has been associated with child development. Given the high rate of psychological distress reported by parents of preterm children, it is vital we understand maternal and paternal wellbeing in the early weeks and months after preterm birth and how this influences the parent-child relationship and children's outcomes. Therefore this study aims to examine how 1) early neurobehaviour and 2) parental mental health relate to developmental outcomes for infants born preterm compared with infants born at term. This prospective cohort study will describe the neurobehaviour of 150 infants born at term equivalent age, and explore how early neurobehavioural deficits relate to brain growth or injury determined by magnetic resonance imaging, perinatal factors, parental mental health and later developmental outcomes measured using standardised assessment tools at term, one and two years' corrected age. A control group of 150 healthy term-born infants will also be recruited for comparison of outcomes. To examine the effects of parental mental health on developmental outcomes, both parents of preterm and term-born infants will complete standardised questionnaires related to symptoms of anxiety, depression and post-traumatic stress at regular intervals from the first week of their child's birth until their child's second birthday. The parent-child relationship will be assessed at one and two years' corrected age. Detailing the trajectory of infant neurobehaviour and parental psychological

Structural brain abnormalities in a single gene disorder associated with epilepsy, language impairment and intellectual disability

Directory of Open Access Journals (Sweden)

Joe Bathelt

2016-01-01

Full Text Available Childhood speech and language deficits are highly prevalent and are a common feature of neurodevelopmental disorders. However, it is difficult to investigate the underlying causal pathways because many diagnostic groups have a heterogeneous aetiology. Studying disorders with a shared genetic cause and shared cognitive deficits can provide crucial insight into the cellular mechanisms and neural systems that give rise to those impairments. The current study investigated structural brain differences of individuals with mutations in ZDHHC9, which is associated with a specific neurodevelopmental phenotype including prominent speech and language impairments and intellectual disability. We used multiple structural neuroimaging methods to characterise neuroanatomy in this group, and observed bilateral reductions in cortical thickness in areas surrounding the temporo-parietal junction, parietal lobule, and inferior frontal lobe, and decreased microstructural integrity of cortical, subcortical-cortical, and interhemispheric white matter projections. These findings are compared to reports for other genetic groups and genetically heterogeneous disorders with a similar presentation. Overlap in the neuroanatomical phenotype suggests a common pathway that particularly affects the development of temporo-parietal and inferior frontal areas, and their connections.

Neurodevelopmental outcome at 2 years in twin-twin transfusion syndrome survivors randomized for the Solomon trial.

Science.gov (United States)

van Klink, Jeanine M M; Slaghekke, Femke; Balestriero, Marina A; Scelsa, Barbara; Introvini, Paola; Rustico, Mariangela; Faiola, Stefano; Rijken, Monique; Koopman, Hendrik M; Middeldorp, Johanna M; Oepkes, Dick; Lopriore, Enrico

2016-01-01

The preferred treatment for twin-twin transfusion syndrome is fetoscopic laser coagulation of inter-twin vascular anastomoses on the monochorionic placenta. Severe postoperative complications can occur when inter-twin vascular anastomoses remain patent including twin-anemia polycythemia sequence or recurrent twin-twin transfusion syndrome. To minimize the occurrence of residual anastomoses, a modified laser surgery technique, the Solomon technique, was developed in which the entire vascular equator is coagulated. In the Solomon randomized controlled trial (NTR1245), the Solomon technique was associated with a significant reduction in twin-anemia polycythemia sequence and recurrence of twin-twin transfusion syndrome when compared with the standard laser surgery technique. Although a significant improvement in perinatal outcome was shown after the Solomon technique, the clinical importance should also be ascertained with long-term follow-up evaluation of the surviving children. The purpose of this study was to compare the long-term neurodevelopmental outcome in surviving children with twin-twin transfusion syndrome who were included in the Solomon randomized trial and treated with either the Solomon technique or standard laser surgery technique. Routine standardized follow-up evaluation in survivors, at least 2 years after the estimated date of delivery, was performed at 2 of the 5 centers that participated in the Solomon trial: Buzzi Hospital Milan (Italy) and Leiden University Medical Center (The Netherlands). The primary outcome of this follow-up study was survival without long-term neurodevelopmental impairment at age 2 years. Neurodevelopmental impairment was defined as cerebral palsy, cognitive and/or motor development score of neurodevelopmental impairment) was detected in 95 of 141 cases (67%) in the Solomon group and in 99 of 146 cases (68%) in the standard group (P = .92). Neurodevelopmental impairment in long-term survivors who were included for follow

Prenatal Maternal Serum Concentrations of Per- and Polyfluoroalkyl Substances in Association with Autism Spectrum Disorder and Intellectual Disability.

Science.gov (United States)

Lyall, Kristen; Yau, Vincent M; Hansen, Robin; Kharrazi, Martin; Yoshida, Cathleen K; Calafat, Antonia M; Windham, Gayle; Croen, Lisa A

2018-01-02

Emerging work has examined neurodevelopmental outcomes following prenatal exposure to per- and polyfluoroalkyl substances (PFAS), but few studies have assessed associations with autism spectrum disorder (ASD). Our objective was to estimate associations of maternal prenatal PFAS concentrations with ASD and intellectual disability (ID) in children. Participants were from a population-based nested case-control study of children born from 2000 to 2003 in southern California, including children diagnosed with ASD ( n =553), ID without autism ( n =189), and general population (GP) controls ( n =433). Concentrations of eight PFAS from stored maternal sera collected at 15-19 wk gestational age were quantified and compared among study groups. We used logistic regression to obtain adjusted odds ratios for the association between prenatal PFAS concentrations (parameterized continuously and as quartiles) and ASD versus GP controls, and separately for ID versus GP controls. Geometric mean concentrations of most PFAS were lower in ASD and ID groups relative to GP controls. ASD was not significantly associated with prenatal concentrations of most PFAS, though significant inverse associations were found for perfluorooctanoate (PFOA) and perfluorooctane sulfonate (PFOS) [adjusted ORs for the highest vs. lowest quartiles 0.62 (95% CI: 0.41, 0.93) and 0.64 (95% CI: 0.43, 0.97), respectively]. Results for ID were similar. Results from this large case-control study with prospectively collected prenatal measurements do not support the hypothesis that prenatal exposure to PFAS is positively associated with ASD or ID. https://doi.org/10.1289/EHP1830.

Devil in disguise: Does drinking lead to a disability pension?

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Böckerman, Petri; Hyytinen, Ari; Maczulskij, Terhi

2016-05-01

To examine whether alcohol consumption in adulthood is related to the incidence of receiving a disability pension later in life. Twin data for Finnish men and women born before 1958 were matched to register-based individual information on disability pensions. Twin differences were used to eliminate both shared environmental and genetic factors. The quantity of alcohol consumption was measured as the weekly average consumption using self-reported data from three surveys (1975, 1981 and 1990). The disability pension data were evaluated from 1990-2004. The models that account for shared environmental and genetic factors reveal that heavy drinkers are significantly more likely to receive a disability pension than moderate drinkers or constant abstainers. Heavy drinking that leads to passing out is also positively related to receiving a disability pension. The results were robust to the use of potential confounders that twins do not share, such as education years, the number of chronic diseases, physical activity at work and leisure, and stressful life events. Drinking profiles in early adulthood are an important predictor of receiving a disability pension later in life. Copyright © 2015 Elsevier Inc. All rights reserved.

Correlation of serum KL-6 and CC16 levels with neurodevelopmental outcome in premature infants at 12 months corrected age

Science.gov (United States)

Zhang, Zhiqun; Lu, Hui; Zhu, Yunxia; Xiang, Junhua; Huang, Xianmei

2015-01-01

The aim of this study was to evaluate KL-6 and CC16 levels and their correlation with neurodevelopmental outcome among very low birth weight pre-term infants at 12 months corrected age. This prospective cohort study was performed from 2011 to 2013 by enrolling pre-term neonates of gestational age ≤ 32 weeks and birth weight ≤ 1500 g. Serum KL-6 and CC16 levels were determined 7 days after birth and their correlation with neurodevelopment was evaluated using Gesell Mental Developmental Scales. Of the 86 eligible pre-term infants, 63 completed follow-up, of which 15 had bronchopulmonary dysplasia. At 12 months corrected age, 49 infants had favorable outcomes and 14 infants had poor neurodevelopmental outcome. KL-6 levels were higher and CC16 levels were lower in infants with poor neurodevelopmental outcome compared with those infants who had favourable neurodevelopmental outcome. Serum KL-6 levels less than 90.0 ng/ml and CC16 levels greater than 320.0 pg/ml at 7 days of life were found to be predictive of a favourable outcome at 12 months corrected age. These biological markers could predict neurodevelopmental outcome at 12 months corrected age in very low birth weight premature infants, and help the clinician plan early therapeutic interventions to minimize or avoid poor neurodevelopmental outcome. PMID:25631862

Newly postulated neurodevelopmental risks of pediatric anesthesia: theories that could rock our world.

Science.gov (United States)

Hays, Stephen Robert; Deshpande, Jayant K

2013-04-01

General anesthetics can induce apoptotic neurodegeneration and subsequent maladaptive behaviors in animals. Retrospective human studies suggest associations between early anesthetic exposure and subsequent adverse neurodevelopmental outcomes. The relevance of animal data to clinical practice is unclear and to our knowledge the causality underlying observed associations in humans is unknown. We reviewed newly postulated neurodevelopmental risks of pediatric anesthesia and discuss implications for the surgical care of children. We queried the MEDLINE®/PubMed® and EMBASE® databases for citations in English on pediatric anesthetic neurotoxicity with the focus on references from the last decade. Animal studies in rodents and primates demonstrate apoptotic neuropathology and subsequent maladaptive behaviors after exposure to all currently available general anesthetics with the possible exception of α2-adrenergic agonists. Similar adverse pathological and clinical effects occur after untreated pain. Anesthetic neurotoxicity in animals develops only after exposure above threshold doses and durations during a critical neurodevelopmental window of maximal synaptogenesis in the absence of concomitant painful stimuli. Anesthetic exposure outside this window or below threshold doses and durations shows no apparent neurotoxicity, while exposure in the context of concomitant painful stimuli is neuroprotective. Retrospective human studies suggest associations between early anesthetic exposure and subsequent adverse neurodevelopmental outcomes, particularly after multiple exposures. The causality underlying the associations is unknown. Ongoing investigations may clarify the risks associated with current practice. Surgical care of all patients mandates appropriate anesthesia. Neurotoxic doses and the duration of anesthetic exposure in animals may have little relevance to clinical practice, particularly surgical anesthesia for perioperative pain. The causality underlying the

Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy.

Science.gov (United States)

Iourov, Ivan Y; Vorsanova, Svetlana G; Korostelev, Sergei A; Zelenova, Maria A; Yurov, Yuri B

2015-01-01

Long contiguous stretches of homozygosity (LCSH) (regions/runs of homozygosity) are repeatedly detected by single-nucleotide polymorphism (SNP) chromosomal microarrays. Providing important clues regarding parental relatedness (consanguinity), uniparental disomy, chromosomal recombination or rearrangements, LCSH are rarely considered as a possible epigenetic cause of neurodevelopmental disorders. Additionally, despite being relevant to imprinting, LCSH at imprinted loci have not been truly addressed in terms of pathogenicity. In this study, we examined LCSH in children with unexplained intellectual disability, autism, congenital malformations and/or epilepsy focusing on chromosomal regions which harbor imprinted disease genes. Out of 267 cases, 14 (5.2 %) were found to have LCSH at imprinted loci associated with a clinical outcome. There were 5 cases of LCSH at 15p11.2, 4 cases of LCSH at 7q31.2, 3 cases of LCSH at 11p15.5, and 2 cases of LCSH at 7q21.3. Apart from a case of LCSH at 7q31.33q32.3 (~4 Mb in size), all causative LCSH were 1-1.5 Mb in size. Clinically, these cases were characterized by a weak resemblance to corresponding imprinting diseases (i.e., Silver-Russell, Beckwith-Wiedemann, and Prader-Willi/Angelman syndromes), exhibiting distinctive intellectual disability, autistic behavior, developmental delay, seizures and/or facial dysmorphisms. Parental consanguinity was detected in 8 cases (3 %), and these cases did not exhibit LCSH at imprinted loci. This study demonstrates that shorter LCSH at chromosomes 7q21.3, 7q31.2, 11p15.5, and 15p11.2 occur with a frequency of about 5 % in the children with intellectual disability, autism, congenital malformations and/or epilepsy. Consequently, this type of epigenetic mutations appears to be the most common one among children with neurodevelopmental diseases. Finally, since LCSH less than 2.5-10 Mb in size are generally ignored in diagnostic SNP microarray studies, one can conclude that an important

Seroprevalence of Toxoplasma gondii infection among patients with non-schizophrenic neurodevelopmental disorders in Alexandria, Egypt.

Science.gov (United States)

Shehata, Amany I; Hassanein, Faika I; Abdul-Ghani, Rashad

2016-02-01

Toxoplasma gondii is an opportunistic parasite with neurotropic characteristics that can mediate neurodevelopmental disorders, including mental, behavioral and personality aspects of their hosts. Therefore, the seroprevalence of anti-Toxoplasma antibodies has been studied in patients with different neurological disorders from different localities. On searching online databases, however, we could not find published studies on the seroprevalence of anti-Toxoplasma antibodies among patients with neurodevelopmental disorders in Egypt. Therefore, the present preliminary study was conducted to determine the serological profile of T. gondii infection among patients with non-schizophrenic neurodevelopmental disorders in Alexandria, Egypt. Data and blood samples were collected from 188 patients recruited for the study from four mental rehabilitation centers in the period from July 2014 to March 2015. The overall seropositivity rates of IgM and IgG among patients were 16.5% (31/188) and 50.0% (94/188), respectively. Of the studied patients' characteristics, only age was significantly associated with anti-Toxoplasma IgG seropositivity, with older patients being about twice more likely exposed to infection. However, no statistically significant association was found with IgM. In addition, seropositivity of anti-Toxoplasma IgG, but not IgM, was significantly associated with non-schizophrenic neurodevelopmental disorders; however, neither IgG nor IgM showed a significant association with cognitive impairment as indicated by the intelligence quotient scores. Copyright © 2015 Elsevier B.V. All rights reserved.

Tooth loss and subsequent disability and mortality in old age

DEFF Research Database (Denmark)

Holm-Pedersen, Poul; Schultz-Larsen, Kirsten; Christiansen, Niels

2008-01-01

OBJECTIVES: To examine whether tooth loss at age 70 is associated with onset of disability at 5-, 10-, 15-, and 20-year follow-up and to mortality at 21-year follow-up. SETTING: Community-based population in Copenhagen. DESIGN: A baseline study of a random sample of 70-year-old people born in 1914...... interviews and a medical and oral examination. Oral health was measured according to number of teeth (0, 1-9, 10-19, > or = 20). Disability was measured using the Avlund Mob-H scale at age 75, 80, 85, and 90. Mortality data were obtained from the National Death Register. RESULTS: Being edentulous or having...... one to nine teeth was associated with onset of disability at age 75 and 80. Health-related variables and education attenuated the associations between edentulism and onset of disability, although they remained marginally significant, whereas the association between having one to nine teeth and onset...

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities

DEFF Research Database (Denmark)

Martin, Sonja; Chamberlin, Adam; Shinde, Deepali N

2017-01-01

Using trio whole-exome sequencing, we have identified de novo heterozygous pathogenic variants in GRIA4 in five unrelated individuals with intellectual disability and other symptoms. GRIA4 encodes an AMPA receptor subunit known as GluR4, which is found on excitatory glutamatergic synapses...... and is important for learning and memory. Four of the variants are located in the highly conserved SYTANLAAF motif in the transmembrane protein M3, and the fifth is in an extra-cellular domain. Molecular modeling of the altered protein showed that three of the variants in the SYTANLAAF motif orient toward...... information and genetic results, and the fact that other subunits of the AMPA receptor have already been associated with neurodevelopmental disorders, we suggest that pathogenic de novo variants in GRIA4 lead to intellectual disability with or without seizures, gait abnormalities, problems of social behavior...

Brain injury in very preterm children and neurosensory and cognitive disabilities during childhood: the EPIPAGE cohort study.

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Stéphane Marret

Full Text Available OBJECTIVE: To investigate the association of motor and cognitive/learning deficiencies and overall disabilities in very preterm (VPT children and their relations to gestational age (GA and brain lesions. DESIGN SETTING AND PARTICIPANTS: EPIPAGE is a longitudinal population-based cohort study of children born before 33 weeks' gestation (WG in 9 French regions in 1997-1998. Cumulating data from all follow up stages, neurodevelopmental outcomes were available for 90% of the 2480 VPT survivors at 8 years. Main outcomes were association of motor and cognitive deficiencies and existence of at least one deficiency (motor, cognitive, behavioral/psychiatric, epileptic, visual, and/or hearing deficiencies in three GA groups (24-26, 27-28, and 29-32WG and four groups of brain lesions (none, minor, moderate, or severe. RESULTS: VPT had high rates of motor (14% and cognitive (31% deficiencies. Only 6% had an isolated motor deficiency, 23% an isolated cognitive one and 8% both types. This rate reached 20% among extremely preterm. Psychiatric disorders and epilepsy were observed in 6% and 2% of children, respectively. The risks of at least one severe or moderate deficiency were 11 and 29%. These risks increased as GA decreased; only 36% of children born extremely preterm had no reported deficiency. Among children with major white matter injury (WMI, deficiency rates reached 71% at 24-26WG, 88% at 27-28WG, and 80% at 29-32WG; more than 40% had associated motor and cognitive deficiencies. By contrast, isolated cognitive deficiency was the most frequent problem among children without major lesions. CONCLUSIONS: In VPT, the lower the GA, the higher the neurodisability rate. Cerebral palsy is common. Impaired cognitive development is more frequent. Its occurrence in case without WMI or early motor disorders makes long-term follow up necessary. The strong association between motor impairments, when they exist, and later cognitive dysfunction supports the hypothesis

Executive Functioning and Learning Skills of Adolescent Children Born at Fewer than 26 Weeks of Gestation

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Farooqi, A.; Adamsson, M.; Serenius, F.; Hägglöf, B.

2016-01-01

�� ratings, the EPT children were less well adjusted to the school environment. Conclusion EPT children born in the 1990s who received active perinatal care are at an increased risk of executive dysfunction, even after excluding children with significant neurodevelopmental disabilities. Even mild to moderate executive dysfunctions has a significant impact on learning skills. These findings suggest the need for timely interventions that address specific cognitive vulnerabilities and executive dysfunctions. PMID:26999522

Disabled children and their families in Ukraine: health and mental health issues for families caring for their disabled child at home.

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Bridge, Gillian

2004-01-01

In the Eastern European countries included in the communist system of the USSR, parents of disabled children were encouraged to commit their disabled child to institutional care. There were strict legal regulations excluding them from schools. Medical assessments were used for care decisions. Nevertheless many parents decided to care for their disabled child at home within the family. Ukraine became an independent country in 1991, when communism was replaced by liberal democracy within a free market system. Western solutions have been sought for many social problems existing, but 'hidden,' under the old regime. For more of the parents of disabled children, this has meant embracing ideas of caring for their disabled children in the community, and providing for their social, educational, and medical needs, which have previously been denied. The issue of disability is a serious one for Ukraine where the nuclear disaster at Chernobyl in 1986 caused extensive radiation poisoning. This almost certainly led to an increase in the number of disabled children being born and an increase in the incidence of various forms of cancer. This paper is based on a series of observation visits to some of the many self-help groups established by parents, usually mothers, for their disabled children. It draws attention to the emotional stress experienced both by parents and their disabled children in the process of attempting to come to terms with the disabling conditions, and the denial of the normal rights of childhood resulting from prejudice, poor resources, ignorance, and restrictive legislation. Attempts have been made to identify the possible role and tasks of professional social workers within this context. International comparisons show that many parents and their children do not benefit from the medical model of disability, and that serious consequences include the development of depressive illness among those who find that little help is available from public services.

Resilience in persons with disabilities: the logotherapy vision

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Silvana Canalhe Garcia

2013-06-01

Full Text Available Viktor Frank’s logotherapy (1905-1990 offers a vision of humankind which can instrument, and provide tools to understand and foster resilience in persons with disabilities. This theoretical approach anticipates the human spirit’s potential for resistance to face adversity, which includes being born with or acquiring a disability throughout life. Both logotherapy, as well as the concept of resilience have in common the recognition of protective factors, and the transformation of difficulties into new opportunities, distancing itself from a pathological focus on deficits to prioritize potential mechanisms that every human being possesses when it comes to resistance and recovery. The perspective which encompasses a biological, psychological and spiritual view, and the logotherapy concepts of the meaning of suffering, the possibility of realization of values in any situation, the ability of human beings to distance themselves from problems, as well as the ability to self-transcend, offers the theoretical and practical reference for the pillars of resilience in persons with disabilities.

Hypertensive disorders of pregnancy and risk of neurodevelopmental disorders in the offspring: a systematic review and meta-analysis protocol.

LENUS (Irish Health Repository)

Maher, Gillian M

2017-10-05

Hypertensive disorders of pregnancy (HDPs), that is chronic hypertension, gestational hypertension, pre-eclampsia (de novo or superimposed on chronic hypertension) and white coat hypertension, affect approximately 5%-15% of pregnancies. HDP exposure has been linked to an increased risk of autism spectrum disorder, attention deficit\\/hyperactivity disorder and other neurodevelopmental disorders in children. However, findings are inconsistent, and a clear consensus on the impact of HDPs on the risk of neurodevelopmental disorders is needed. Therefore, we aim to synthesise the published literature on the relationship between HDPs and the risk of neurodevelopmental disorders in the form of a systematic review and meta-analysis.

Neurodevelopmental comorbidities and seizure control 24 months after a first unprovoked seizure in children.

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Jason, Eva Åndell; Tomson, Torbjörn; Carlsson, Sofia; Tedroff, Kristina; Åmark, Per

2018-07-01

To follow children with newly diagnosed unprovoked seizures to determine (1) whether the prevalence of neurodevelopmental comorbidities and cerebral palsy (CP) changed after the initial seizure, and (2) the association between studied comorbidities and seizures 13-24 months after seizure onset or initiation of treatment. Analyses were based on 750 children (28 days-18 years) with a first unprovoked seizure (index) included in a population-based Incidence Registry in Stockholm between 2001 and 2006. The children were followed for two years and their medical records were examined for a priori defined neurodevelopmental/psychiatric comorbidities and CP and seizure frequency. Baseline information was collected from medical records from before, and up to six months after, the index seizure. Odds ratios (OR) of repeated seizures 13-24 months after the first seizure or after initiation of anti-epileptic drug treatment was calculated by logistic regression and adjusted for age and sex. At baseline, 32% of the children had neurodevelopmental/psychiatric comorbidities or CP compared to 35%, 24 months later. Children with such comorbidities more often experienced seizures 13-24 months after the index seizure (OR 2.87, CI 2.07-3.99) with the highest OR in those with CP or attention deficit hyperactivity disorder (ADHD). Children diagnosed at age neurodevelopmental comorbidities and CP in children with epilepsy tend to be present already at seizure onset and that such comorbidities are strong indicators of poor outcome regarding seizure control with or without treatment. Copyright © 2018 Elsevier B.V. All rights reserved.

Changing Survival Rate of Infants Born Before 26 Gestational Weeks

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Rahman, Asad; Abdellatif, Mohamed; Sharef, Sharef W.; Fazalullah, Muhammad; Al-Senaidi, Khalfan; Khan, Ashfaq A.; Ahmad, Masood; Kripail, Mathew; Abuanza, Mazen; Bataclan, Flordeliza

2015-01-01

Objectives: This study aimed to evaluate the changing survival rate and morbidities among infants born before 26 gestational weeks at the Sultan Qaboos University Hospital (SQUH) in Muscat, Oman. Methods: This retrospective study assessed the mortality and morbidities of all premature infants born alive at 23–26 gestational weeks at SQUH between June 2006 and May 2013. Infants referred to SQUH within 72 hours of birth during this period were also included. Electronic records were reviewed for gestational age, gender, birth weight, maternal age, mode and place of delivery, antenatal steroid administration, morbidity and outcome. The survival rate was calculated and findings were then compared with those of a previous study conducted in the same hospital from 1991 to 1998. Rates of major morbidities were also calculated. Results: A total of 81 infants between 23–26 gestational weeks were admitted to the neonatal unit during the study period. Of these, 58.0% were male and 42.0% were female. Median gestational age was 25 weeks and mean birth weight was 770 ± 150 g. Of the 81 infants, 49 survived. The overall survival rate was 60.5% compared to 41% reported in the previous study. Respiratory distress syndrome (100.0%), retinopathy of prematurity (51.9%), bronchopulmonary dysplasia (34.6%), intraventricular haemorrhage (30.9%) and patent ductus arteriosus (28.4%) were the most common morbidities. Conclusion: The overall survival rate of infants between 23–26 gestational weeks during the study period had significantly improved in comparison to that found at the same hospital from 1991 to 1998. There is a need for the long-term neurodevelopmental follow-up of premature infants. PMID:26357555

Survival and Neurodevelopmental Outcomes of Preterms Resuscitated With Different Oxygen Fractions

NARCIS (Netherlands)

Boronat, Nuria; Aguar, Marta; Rook, Denise; Iriondo, Martin; Brugada, María; Cernada, María; Nuñez, Antonio; Izquierdo, Montserrat; Cubells, Elena; Martinez, María; Parra, Anna; van Goudoever, Hans; Vento, Máximo

2016-01-01

Stabilization of preterm infants after birth frequently requires oxygen supplementation. At present the optimal initial oxygen inspiratory fraction (Fio2) for preterm stabilization after birth is still under debate. We aimed to compare neurodevelopmental outcomes of extremely preterm infants at 24

77 FR 60745 - Proposed Information Collection (Application for Benefits for Certain Children With Disabilities...

Science.gov (United States)

2012-10-04

... laws, benefits will be paid under 38 U.S.C. 1815. Affected Public: Individuals or households. Estimated... (Application for Benefits for Certain Children With Disabilities Born of Vietnam and Certain Korea Service Veterans) Activity: Comment Request AGENCY: Veterans Benefits Administration, Department of Veterans...

Minor Neurological Dysfunctions (MNDs in Autistic Children without Intellectual Disability

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Gabriele Tripi

2018-04-01

Full Text Available Background: Children with autism spectrum disorder (ASD require neurological evaluation to detect sensory-motor impairment. This will improve understanding of brain function in children with ASD, in terms of minor neurological dysfunctions (MNDs. Methods: We compared 32 ASD children without intellectual disability (IQ ≥ 70 with 32 healthy controls. A standardized and age-specific neurological examination according to Touwen was used to detect the presence of MNDs. Particular attention was paid to severity and type of MNDs. Results: Children with ASD had significantly higher rates of MNDs compared to controls (96.9% versus 15.6%: 81.3% had simple MNDs (p < 0.0001 and 15.6% had complex MNDs (p = 0.053. The prevalence of MNDs in the ASD group was significantly higher (p < 0.0001 than controls. With respect to specific types of MNDs, children with ASD showed a wide range of fine manipulative disability, sensory deficits and choreiform dyskinesia. We also found an excess of associated movements and anomalies in coordination and balance. Conclusions: Results replicate previous findings which found delays in sensory-motor behavior in ASD pointing towards a role for prenatal, natal and neonatal risk factors in the neurodevelopmental theory of autism.

Intellectual Profiles in the Autism Spectrum and Other Neurodevelopmental Disorders

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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…

Influence of the presence of a child with intellectual disability on ...

African Journals Online (AJOL)

Marriages that are able to produce children are considered fruitful in Nigeria, and most often this determines the stability of such marriages. In Nigeria, it was observed that when a child is born with a disability, there is the tendency for the home to experience low level of instability. This study investigated the influence of the ...

Neurodevelopmental Outcomes in Infants with Retinopathy of Prematurity and Bevacizumab Treatment.

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Reyin Lien

Full Text Available The current study aims to investigate the neurodevelopment of premature infants after intravitreal injections of bevacizumab (IVB for the treatment of retinopathy of prematurity (ROP up to the age of 2 years.The study design was retrospective observational case series conducted at an institutional referral center. Infants with type 1 ROP were classified into 3 groups: laser only, IVB only, and a combination of IVB and laser treatment. Main Outcome Measures were neurodevelopmental outcomes of the patients after treatment were assessed by Bayley Scales for Infant Development.Sixty-one patients who finished the neurodevelopmental survey were included. No detrimental effects on neurodevelopment were found in IVB group compared with the patients who received laser treatment only. The patients in the IVB + laser group had a higher incidence of significant mental (p = 0.028 and psychomotor (p = 0.002 impairment at 24 months than the patients in the laser group. The odds ratio of having severe psychomotor defects in the IVB + laser group was 5.3 compared with the laser group (p = 0.041. The causal source for the differences that were detected remained unknown due to lack of randomization in the study and accompanying bias in patient selection.Two years after laser and/or intravitreal injections of bevacizumab for infants with retinopathy of prematurity, no difference on neurodevelopment for those who received only bevacizumab versus only laser treatment were found. Those infants who required rescue therapy with laser or bevacizumab injection after initial, unsuccessful treatment showed some detrimental, neurodevelopmental effects.

Autism as early neurodevelopmental disorder: evidence for an sAPPα-mediated anabolic pathway.

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Lahiri, Debomoy K; Sokol, Deborah K; Erickson, Craig; Ray, Balmiki; Ho, Chang Y; Maloney, Bryan

2013-01-01

Autism is a neurodevelopmental disorder marked by social skills and communication deficits and interfering repetitive behavior. Intellectual disability often accompanies autism. In addition to behavioral deficits, autism is characterized by neuropathology and brain overgrowth. Increased intracranial volume often accompanies this brain growth. We have found that the Alzheimer's disease (AD) associated amyloid-β precursor protein (APP), especially its neuroprotective processing product, secreted APP α, is elevated in persons with autism. This has led to the "anabolic hypothesis" of autism etiology, in which neuronal overgrowth in the brain results in interneuronal misconnections that may underlie multiple autism symptoms. We review the contribution of research in brain volume and of APP to the anabolic hypothesis, and relate APP to other proteins and pathways that have already been directly associated with autism, such as fragile X mental retardation protein, Ras small GTPase/extracellular signal-regulated kinase, and phosphoinositide 3 kinase/protein kinase B/mammalian target of rapamycin. We also present additional evidence of magnetic resonance imaging intracranial measurements in favor of the anabolic hypothesis. Finally, since it appears that APP's involvement in autism is part of a multi-partner network, we extend this concept into the inherently interactive realm of epigenetics. We speculate that the underlying molecular abnormalities that influence APP's contribution to autism are epigenetic markers overlaid onto potentially vulnerable gene sequences due to environmental influence.

Early and intensive nutritional strategy combining parenteral and enteral feeding promotes neurodevelopment and growth at 18months of corrected age and 3years of age in extremely low birth weight infants.

Science.gov (United States)

Ohnishi, Satoshi; Ichiba, Hiroyuki; Tanaka, Yuko; Harada, Sayaka; Matsumura, Hisako; Kan, Ayako; Asada, Yuki; Shintaku, Haruo

2016-09-01

To evaluate whether aggressive nutrition can improve long-term neurodevelopmental outcomes and growth in extremely low birth weight (ELBW) infants born appropriate for gestational age (AGA). This single-center cohort study included 137 ELBW AGA infants born in two epochs. The first group received standard nutrition (SN; n=79) consisting of amino acids started at 0.5g/kg/day on Day 4 of life and increased to 1.0g/kg/day. The second aggressive nutrition (AN) group received amino acids started at 1.5-2.0g/kg/day within 24h of life and increased to 3.5g/kg/day. Parenteral and enteral feedings were combined in both groups. Neurodevelopmental outcomes by the Kyoto Scale of Psychological Development and growth were followed up to 18months of corrected age or 3years of age and compared by univariate and multivariate analyses. Baseline characteristics were similar between the two groups. At 3years of age, AN children had a significantly greater mean value of head circumference, but not length or weight, than SN children (49.1 vs 48.0cm, p=0.014). The cognitive-adaptive (C-A) score in the AN group was also significantly higher than that in the SN group (98.3 vs 91.9 at 18months, p=0.039 and 89.5 vs 83.1 at 3years, p=0.047). AN infants born ≥26weeks of gestation were less likely to develop borderline disability in C-A, language-social and overall developmental scores compared to gestational age-matched SN infants. Parenteral and enteral AN after birth improved the long-term cognitive neurodevelopment in ELBW AGA infants, especially in those born ≥26weeks of gestational age, however results need to be confirmed in a larger, multi-site randomized trial. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Elevated cranial ultrasound resistive indices are associated with improved neurodevelopmental outcomes one year after pediatric cardiac surgery: A single center pilot study.

Science.gov (United States)

Jenks, Christopher L; Hernandez, Ana; Stavinoha, Peter L; Morris, Michael C; Tian, Fenghua; Liu, Hanli; Garg, Parvesh; Forbess, Joseph M; Koch, Joshua

To determine if a non-invasive, repeatable test can be used to predict neurodevelopmental outcomes in patients with congenital heart disease. This was a prospective study of pediatric patients less than two months of age undergoing congenital heart surgery at the Children's Health Children's Medical Center at Dallas. Multichannel near-infrared spectroscopy (NIRS) was utilized during the surgery, and ultrasound (US) resistive indices (RI) of the major cranial vessels were obtained prior to surgery, immediately post-operatively, and prior to discharge. Pearson's correlation, Fischer exact t test, and Fischer r to z transformation were used where appropriate. A total of 16 patients were enrolled. All had US data. Of the sixteen patients, two died prior to the neurodevelopmental testing, six did not return for the neurodevelopmental testing, and eight patients completed the neurodevelopmental testing. There were no significant correlations between the prior to surgery and prior to discharge US RI and neurodevelopmental outcomes. The immediate post-operative US RI demonstrated a strong positive correlation with standardized neurodevelopmental outcome measures. We were able to demonstrate qualitative differences using multichannel NIRS during surgery, but experienced significant technical difficulties implementing consistent monitoring. A higher resistive index in the major cerebral blood vessels following cardiac surgery in the neonatal period is associated with improved neurological outcomes one year after surgery. Obtaining an ultrasound with resistive indices of the major cerebral vessels prior to and after surgery may yield information that is predictive of neurodevelopmental outcomes. Copyright © 2017 Elsevier Inc. All rights reserved.

Cerebral imaging and neurodevelopmental outcome after entero- and human parechovirus sepsis in young infants.

Science.gov (United States)

de Jong, Eveline P; Holscher, Herma C; Steggerda, Sylke J; Van Klink, Jeanine M M; van Elzakker, Erika P M; Lopriore, Enrico; Walther, Frans J; Brus, Frank

2017-12-01

Enterovirus (EV) and human parechovirus (HPeV) are major causes of sepsis-like illness in infants under 90 days of age and have been identified as neurotropic. Studies about acute and long-term neurodevelopment in infants with sepsis-like illness without the need for intensive care are few. This study investigates cerebral imaging and neurodevelopmental outcome following EV and HPeV infection in these infants. We studied infants under 90 days of age who were admitted to a medium care unit with proven EV- or HPeV-induced sepsis-like illness. In addition to standard care, we did a cerebral ultrasound and cerebral magnetic resonance imaging (MRI), as well as neurodevelopmental follow-up at 6 weeks and 6 months and Bayley Scale of Infant and Toddler Development 3rd edition (BSID-III) investigation at 1 year of age. Twenty-six infants, 22 with EV and 4 with HPeV, were analysed. No abnormalities were detected at cerebral imaging. At 1 year of age, two infants had a moderate delay on both the motor and cognitive scale, one on the cognitive scale only and three others on the gross motor scale only. Although our study population, especially the number of HPeV positive infants is small, our study shows that these infants do not seem to develop severe neurodevelopmental delay and neurologic sequelae more often than the normal Dutch population. Follow-up to school age allows for more reliable assessments of developmental outcome and is recommended for further studies to better assess outcome. What is known: • Enterovirus and Human Parechovirus infections are a major cause of sepsis-like illness in young infants. • After intensive care treatment for EV or HPeV infection, white matter abnormalities and neurodevelopmental delay have been described. What is new: • In our 'medium care' population, no abnormalities at cerebral imaging after EV- or HPeV-induced sepsis-like illness have been found. • At 1 year of age, infants who had EV- or HPeV-induced sepsis

Comparison of 24 months neurodevelopmental outcome in twins and singletons ≤ 34 weeks gestation at birth

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Maria Kyriakidou

2013-04-01

Full Text Available The aim of this study was to screen neurodevelopmental impairment of preterm twins born at less than 34 weeks of gestation, compare them with the outcome of preterm singletons, and to determine potential neonatal factors adversely related to motor and cognitive outcome. Twins of 25-34 weeks gestation were included in the study. In total, 46 twins were matched with 46 singletons and were followed prospectively to 24 months corrected age. Obstetrical and neonatal data were recorded. All infants were assessed using the Bayley Scales of Infant and Toddler Development III For all morbidities, a significant difference could not be demonstrated. At 24 month follow up there was no significant difference in the cognitive outcome for the twins compared to singletons [98.6 (± 10.4 vs 97.8 (± 9.7, respectively]. There was also no significant difference in the motor outcome for the twins compared to singletons [94.8 (± 12.4 vs 98.1 (± 9.6., respectively]. For the twins, we found a link between pre-eclampsia and abnormal cognitive (p = 0.012 and motor (p = 0.030 results. With the number of twins steadily increasing, close developmental monitoring and probably early intervention services are needed to determine future directions for research.

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

Science.gov (United States)

Wade, Mark; Prime, Heather; Madigan, Sheri

2015-01-01

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.

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.

Fixel-based analysis reveals alterations is brain microstructure and macrostructure of preterm-born infants at term equivalent age

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Kerstin Pannek

Full Text Available Preterm birth causes significant disruption in ongoing brain development, frequently resulting in adverse neurodevelopmental outcomes. Brain imaging using diffusion MRI may provide valuable insight into microstructural properties of the developing brain. The aim of this study was to establish whether the recently introduced fixel-based analysis method, with its associated measures of fibre density (FD, fibre bundle cross-section (FC, and fibre density and bundle cross-section (FDC, is suitable for the investigation of the preterm infant brain at term equivalent age. High-angular resolution diffusion weighted images (HARDI of 55 preterm-born infants and 20 term-born infants, scanned around term-equivalent age, were included in this study (3 T, 64 directions, b = 2000 s/mm2. Postmenstrual age at the time of MRI, and intracranial volume (FC and FDC only, were identified as confounding variables. Gestational age at birth was correlated with all fixel measures in the splenium of the corpus callosum. Compared to term-born infants, preterm infants showed reduced FD, FC, and FDC in a number of regions, including the corpus callosum, anterior commissure, cortico-spinal tract, optic radiations, and cingulum. Preterm infants with minimal macroscopic brain abnormality showed more extensive reductions than preterm infants without any macroscopic brain abnormality; however, little differences were observed between preterm infants with no and with minimal brain abnormality. FC showed significant reductions in preterm versus term infants outside regions identified with FD and FDC, highlighting the complementary role of these measures. Fixel-based analysis identified both microstructural and macrostructural abnormalities in preterm born infants, providing a more complete picture of early brain development than previous diffusion tensor imaging (DTI based approaches. Keywords: Fixel-based analysis, Diffusion, Prematurity, Neonate

Offspring neuroimmune consequences of maternal malnutrition: Potential mechanism for behavioral impairments that underlie metabolic and neurodevelopmental disorders.

Science.gov (United States)

Smith, B L; Reyes, T M

2017-10-01

Maternal malnutrition significantly increases offspring risk for both metabolic and neurodevelopmental disorders. Animal models of maternal malnutrition have identified behavioral changes in the adult offspring related to executive function and reward processing. Together, these changes in executive and reward-based behaviors likely contribute to the etiology of both metabolic and neurodevelopmental disorders associated with maternal malnutrition. Concomitant with the behavioral effects, maternal malnutrition alters offspring expression of reward-related molecules and inflammatory signals in brain pathways that control executive function and reward. Neuroimmune pathways and microglial interactions in these specific brain circuits, either in early development or later in adulthood, could directly contribute to the maternal malnutrition-induced behavioral phenotypes. Understanding these mechanisms will help advance treatment strategies for metabolic and neurodevelopmental disorders, especially noninvasive dietary supplementation interventions. Copyright © 2017 Elsevier Inc. All rights reserved.

77 FR 20822 - Disease, Disability, and Injury Prevention and Control Special Emphasis Panel (SEP): Initial Review

Science.gov (United States)

2012-04-06

... DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Disease, Disability, and Injury Prevention and Control Special Emphasis Panel (SEP): Initial Review The meeting announced below concerns Detecting Emerging Vector- Borne Zoonotic Pathogens in Indonesia, Funding...

77 FR 12844 - Disease, Disability, and Injury Prevention and Control Special Emphasis Panel (SEP): Initial Review

Science.gov (United States)

2012-03-02

... DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Disease, Disability, and Injury Prevention and Control Special Emphasis Panel (SEP): Initial Review The meeting announced below concerns Detecting Emerging Vector- Borne Zoonotic Pathogens in Indonesia, Funding...

Human Parechovirus Meningitis with Adverse Neurodevelopmental Outcome: A Case Report.

Science.gov (United States)

Berk, Mylene C; Bruning, Andrea Hl; van Wassenaer-Leemhuis, Aleid G; Wolthers, Katja C; Pajkrt, Dasja

2018-03-14

Human parechovirus (HPeV) infections usually cause mild symptoms in children. Although their contribution to severe disease in young children - such as neonatal sepsis and meningo-encephalitis - is increasingly recognized, data on long-term consequences are scarce. Here we present the case of a five-year old boy with severe long-term neurodevelopmental sequelae following HPeV-3 meningitis.

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.

Exposure to Alumina Nanoparticles in Female Mice During Pregnancy Induces Neurodevelopmental Toxicity in the Offspring.

Science.gov (United States)

Zhang, Qinli; Ding, Yong; He, Kaihong; Li, Huan; Gao, Fuping; Moehling, Taylor J; Wu, Xiaohong; Duncan, Jeremy; Niu, Qiao

2018-01-01

Alumina nanoparticles (AlNP) have been shown to accumulate in organs and penetrate biological barriers which lead to toxic effects in many organ systems. However, it is not known whether AlNP exposure to female mice during pregnancy can affect the development of the central nervous system or induce neurodevelopmental toxicity in the offspring. The present study aims to examine the effect of AlNP on neurodevelopment and associated underlying mechanism. ICR strain adult female mice were randomly divided into four groups, which were treated with normal saline (control), 10 μm particle size of alumina (bulk-Al), and 50 and 13 nm AlNP during entire pregnancy period. Aluminum contents in the hippocampus of newborns were measured and neurodevelopmental behaviors were tracked in the offspring from birth to 1 month of age. Furthermore, oxidative stress and neurotransmitter levels were measured in the cerebral cortex of the adolescents. Our results showed that aluminum contents in the hippocampus of newborns in AlNP-treated groups were significantly higher than those in bulk-Al and controls. Moreover, the offspring delivered by AlNP-treated female mice displayed stunted neurodevelopmental behaviors. Finally, the offspring of AlNP-treated mice demonstrated significantly increased anxiety-like behavior with impaired learning and memory performance at 1 month of age. The underlying mechanism could be related to increased oxidative stress and decreased neurotransmitter levels in the cerebral cortex. We therefore conclude that AlNP exposure of female mice during pregnancy can induce neurodevelopmental toxicity in offspring.

Neurodevelopmental Outcome of Children with Congenital Hypothyroidism Diagnosed in a National Screening Program in Turkey.

Science.gov (United States)

Baysal, Bahar Toklu; Baysal, Bora; Genel, Ferah; Erdur, Baris; Ozbek, Erhan; Demir, Korcan; Ozkan, Behzat

2017-05-15

To study the factors affecting a neurodevelopmental status of children with congenital hypothyroidism, diagnosed on national screening program. The study was performed in the Pediatric Endocrinology Department of Dr. Behcet Uz Children's Hospital between May 2012 and May 2013. Children with congenital hypothyroidism, aged between 24 and 36 months, diagnosed by national screening program were included in the study group. Healthy subjects at the same age group consisted of the control group. For the neurodevelopmental evaluation, Bayley Scale of Infant Development- II (BSID-II) was used. Factors possibly effective on neurodevelopment were evaluated. 42 patients and 40 healthy children (mean (SD) age, 29.4 (3.7) and 29.2 (3.5), respectively were included in the study. The mean MDI score [92.6 (7.07) vs 97.1 (9.69), P=0.14)] and the mean PDI score [97.8 (15.68) vs 99.1 (10.57), P=0.66)] in the study group and control group were not significantly different. Among the patient, 4.6% and 4.7% children were moderately retarded as per the MDI scores and PPI scores, respectively. The sex, socioeconomic status, birth weight, screening levels of TSH, severity of the congenital hypothyroidism, initiation time and the dosage of thyroid hormone replacement, length of the normalization period of TSH, and adherence to treatment were not found to affect the MDI and PDI scores of the patients. Some children with congenital hypothyrodism may have mild to moderate neurodevelopmental retardation, despite the early diagnosis and treatment, and thus need to be under regular follow-up for neurodevelopmental status.

78 FR 732 - Disease, Disability, and Injury Prevention and Control Special Emphasis Panel (SEP): Initial Review

Science.gov (United States)

2013-01-04

... DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Disease, Disability, and Injury Prevention and Control Special Emphasis Panel (SEP): Initial Review The meeting announced below concerns Identification, Surveillance, and Control of Vector-Borne and Zoonotic Infectious...

Postnatal treadmill exercise alleviates short-term memory impairment by enhancing cell proliferation and suppressing apoptosis in the hippocampus of rat pups born to diabetic rats.

Science.gov (United States)

Kim, Young Hoon; Sung, Yun-Hee; Lee, Hee-Hyuk; Ko, Il-Gyu; Kim, Sung-Eun; Shin, Mal-Soon; Kim, Bo-Kyun

2014-08-01

During pregnancy, diabetes mellitus exerts detrimental effects on the development of the fetus, especially the central nervous system. In the current study, we evaluated the effects of postnatal treadmill exercise on short-term memory in relation with cell proliferation and apoptosis in the hippocampus of rat pups born to streptozotocin (STZ)-induced diabetic maternal rats. Adult female rats were mated with male rats for 24 h. Two weeks after mating, the pregnant female rats were divided into two groups: control group and STZ injection group. The pregnant rats in the STZ injection group were administered 40 mg/kg of STZ intraperitoneally. After birth, the rat pups were divided into the following four groups: control group, control with postnatal exercise group, maternal STZ-injection group, and maternal STZ-injection with postnatal exercise group. The rat pups in the postnatal exercise groups were made to run on a treadmill for 30 min once a day, 5 times per week for 2 weeks beginning 4 weeks after birth. The rat pups born to diabetic rats were shown to have short-term memory impairment with suppressed cell proliferation and increased apoptosis in the hippocampal dentate gyrus. Postnatal treadmill exercise alleviated short-term memory impairment by increased cell proliferation and suppressed apoptosis in the rat pups born to diabetic rats. These findings indicate that postnatal treadmill exercise may be used as a valuable strategy to ameliorate neurodevelopmental problems in children born to diabetics.

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...

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

Intellectual developmental disorders: towards a new name, definition and framework for "mental retardation/intellectual disability" in ICD-11.

Science.gov (United States)

Salvador-Carulla, Luis; Reed, Geoffrey M; Vaez-Azizi, Leila M; Cooper, Sally-Ann; Martinez-Leal, Rafael; Bertelli, Marco; Adnams, Colleen; Cooray, Sherva; Deb, Shoumitro; Akoury-Dirani, Leyla; Girimaji, Satish Chandra; Katz, Gregorio; Kwok, Henry; Luckasson, Ruth; Simeonsson, Rune; Walsh, Carolyn; Munir, Kemir; Saxena, Shekhar

2011-10-01

Although "intellectual disability" has widely replaced the term "mental retardation", the debate as to whether this entity should be conceptualized as a health condition or as a disability has intensified as the revision of the World Health Organization (WHO)'s International Classification of Diseases (ICD) advances. Defining intellectual disability as a health condition is central to retaining it in ICD, with significant implications for health policy and access to health services. This paper presents the consensus reached to date by the WHO ICD Working Group on the Classification of Intellectual Disabilities. Literature reviews were conducted and a mixed qualitative approach was followed in a series of meetings to produce consensus-based recommendations combining prior expert knowledge and available evidence. The Working Group proposes replacing mental retardation with intellectual developmental disorders, defined as "a group of developmental conditions characterized by significant impairment of cognitive functions, which are associated with limitations of learning, adaptive behaviour and skills". The Working Group further advises that intellectual developmental disorders be incorporated in the larger grouping (parent category) of neurodevelopmental disorders, that current subcategories based on clinical severity (i.e., mild, moderate, severe, profound) be continued, and that problem behaviours be removed from the core classification structure of intellectual developmental disorders and instead described as associated features.

77 FR 74281 - Agency Information Collection (Application for Benefits for Certain Children With Disabilities...

Science.gov (United States)

2012-12-13

..., benefits will be paid under 38 U.S.C. 1815. An agency may not conduct or sponsor, and a person is not... (Application for Benefits for Certain Children With Disabilities Born of Vietnam and Certain Korea Service Veterans): Activity Under OMB Review AGENCY: Veterans Benefits Administration, Department of Veterans...

Parental Stress in Families of Children With Autism and Other Developmental Disabilities.

Science.gov (United States)

Valicenti-McDermott, Maria; Lawson, Katharine; Hottinger, Kathryn; Seijo, Rosa; Schechtman, Merryl; Shulman, Lisa; Shinnar, Shlomo

2015-11-01

The level of parental stress in families of children with autism and other developmental disabilities and its association with child comorbid symptoms was studied in an ethnically diverse population, in a cross-sectional study with structured interview. The sample included 50 families of children with autism and 50 families of children with other developmental disabilities, matched by age/gender. Interview included Parenting Stress Index-Short Form, Gastrointestinal Questionnaire, Child Sleep Habits Questionnaire, and Aberrant Behavior Checklist. In this ethnically diverse sample, parental stress was significantly higher for the autism group and for non-Hispanic and US-born mothers. In both study groups, parental stress was related to child irritability. Parental stress was also related to gastrointestinal problems in the autism group and to sleep difficulties in the developmental disabilities group. Targeting child irritability may be particularly important in reducing parental stress for families of children with autism and other developmental disabilities. © The Author(s) 2015.

Prenatal Maternal Serum Concentrations of Per- and Polyfluoroalkyl Substances in Association with Autism Spectrum Disorder and Intellectual Disability

Science.gov (United States)

Yau, Vincent M.; Hansen, Robin; Kharrazi, Martin; Yoshida, Cathleen K.; Calafat, Antonia M.; Windham, Gayle; Croen, Lisa A.

2018-01-01

Background: Emerging work has examined neurodevelopmental outcomes following prenatal exposure to per- and polyfluoroalkyl substances (PFAS), but few studies have assessed associations with autism spectrum disorder (ASD). Objectives: Our objective was to estimate associations of maternal prenatal PFAS concentrations with ASD and intellectual disability (ID) in children. Methods: Participants were from a population-based nested case–control study of children born from 2000 to 2003 in southern California, including children diagnosed with ASD (n=553), ID without autism (n=189), and general population (GP) controls (n=433). Concentrations of eight PFAS from stored maternal sera collected at 15–19 wk gestational age were quantified and compared among study groups. We used logistic regression to obtain adjusted odds ratios for the association between prenatal PFAS concentrations (parameterized continuously and as quartiles) and ASD versus GP controls, and separately for ID versus GP controls. Results: Geometric mean concentrations of most PFAS were lower in ASD and ID groups relative to GP controls. ASD was not significantly associated with prenatal concentrations of most PFAS, though significant inverse associations were found for perfluorooctanoate (PFOA) and perfluorooctane sulfonate (PFOS) [adjusted ORs for the highest vs. lowest quartiles 0.62 (95% CI: 0.41, 0.93) and 0.64 (95% CI: 0.43, 0.97), respectively]. Results for ID were similar. Conclusions: Results from this large case–control study with prospectively collected prenatal measurements do not support the hypothesis that prenatal exposure to PFAS is positively associated with ASD or ID. https://doi.org/10.1289/EHP1830 PMID:29298162

[Formula: see text]Selecting measures for the neurodevelopmental assessment of children in low- and middle-income countries.

Science.gov (United States)

Semrud-Clikeman, Margaret; Romero, Regilda Anne A; Prado, Elizabeth L; Shapiro, Elsa G; Bangirana, Paul; John, Chandy C

2017-10-01

Diseases affecting millions of children in low- and middle-income countries (LMICs), such as malnutrition, micronutrient deficiency, malaria, and HIV, can lead to adverse neurodevelopmental outcomes. Thus, a key health outcome in children is neurodevelopmental status. In this paper, the neurodevelopmental screening and testing measures most commonly utilized in LMICs are reviewed, and a matrix is presented to help researchers and clinicians determine which measures may be most useful for various LMIC inquiries. The matrix is based on an Internet literature review of 114 publications for the period January 1998 to February 2016, reporting the psychometric properties of instruments tested in LMIC children. The measures are classified as screening tests or more detailed tests that include both comprehensive batteries of general development and tests of specific domains. For completeness, two experts have reviewed this paper, as well as the authors. An overview of the tests used to date is presented, including the benefits and drawbacks of each test, in order to provide researchers and developmental clinicians with a way to decide which tests may be best suited to their developmental assessment goals. Remarkable progress has been made in neurodevelopmental testing in children in LMICs over the past two decades but there remains a need for additional research in this area to develop new tests, better evaluate and adapt current tests, and assess test validity and reliability across cultures.

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 neurodevelopmental questionnaires (Behavior Assessment System for 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.

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.

Advanced paternal age effects in neurodevelopmental disorders-review of potential underlying mechanisms.

Science.gov (United States)

Janecka, M; Mill, J; Basson, M A; Goriely, A; Spiers, H; Reichenberg, A; Schalkwyk, L; Fernandes, C

2017-01-31

Multiple epidemiological studies suggest a relationship between advanced paternal age (APA) at conception and adverse neurodevelopmental outcomes in offspring, particularly with regard to increased risk for autism and schizophrenia. Conclusive evidence about how age-related changes in paternal gametes, or age-independent behavioral traits affect neural development is still lacking. Recent evidence suggests that the origins of APA effects are likely to be multidimensional, involving both inherited predisposition and de novo events. Here we provide a review of the epidemiological and molecular findings to date. Focusing on the latter, we present the evidence for genetic and epigenetic mechanisms underpinning the association between late fatherhood and disorder in offspring. We also discuss the limitations of the APA literature. We propose that different hypotheses relating to the origins of the APA effects are not mutually exclusive. Instead, multiple mechanisms likely contribute, reflecting the etiological complexity of neurodevelopmental disorders.

Early Recollections of First-Borns.

Science.gov (United States)

Fakouri, M. Ebrahim; Hafner, James L.

1984-01-01

Compared the early recollections of 50 first-borns and 98 later-borns. The first-borns mentioned significantly more nonfamily members, illness/injury, hospital/doctor's office. Later-borns mentioned significantly more siblings than did first-borns. Findings were discussed in the context of Adler's personality theory. (JAC)

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

Neurodevelopmental Outcome and Health-related Quality of Life in Children With Single-ventricle Heart Disease Before Fontan Procedure.

Science.gov (United States)

Reich, Bettina; Heye, Kristina; Tuura, Ruth; Beck, Ingrid; Wetterling, Kristina; Hahn, Andreas; Hofmann, Karoline; Schranz, Dietmar; Akintürk, Hakan; Latal, Beatrice; Knirsch, Walter

2017-12-05

Neurodevelopmental impairment and impaired quality of life constitute a major source of morbidity among children with complex congenital heart disease, in particular for single-ventricle (SV) morphologies. Risk factors and quality of life determining clinical and neurodevelopmental outcome at 2 years of age are examined. In a 2-center cohort study, 48 patients with SV morphology (26 hypoplastic left heart syndrome and 22 other types of univentricular heart defect) have been examined before Fontan procedure between 2010 and 2015. Patients were assessed with the Bayley Scales of Infant and Toddler Development, Third Version (Bayley-III), and the Preschool Children Quality of Life (TAPQOL) questionnaire. A total of 44 patients underwent hybrid procedure (n = 25), Norwood procedure (n = 7), or shunt or banding procedure (n = 12) as first surgery before subsequent bidirectional cavopulmonary anastomosis (n = 48). Median cognitive, language, and motor composite scores on the Bayley-III were 100 (range 65-120), 97 (68-124), and 97 (55-124), respectively. The language composite score was significantly below the norm (P = 0.025). Risk factors for poorer neurodevelopmental outcome were prolonged mechanical ventilation, longer days of hospital stay, and more reinterventions (all P neurodevelopmental outcome of this high-risk patient population. Copyright © 2017 Elsevier Inc. All rights reserved.

Impact of Tight Glycemic Control on Neurodevelopmental Outcomes at 1 Year of Age for Children with Congenital Heart Disease: A Randomized Controlled Trial

Science.gov (United States)

Sadhwani, Anjali; Asaro, Lisa A.; Goldberg, Caren; Ware, Janice; Butcher, Jennifer; Gaies, Michael; Smith, Cynthia; Alexander, Jamin L.; Wypij, David; Agus, Michael S. D.

2016-01-01

Objective To assess the association of postoperative tight glycemic control and hypoglycemia in children undergoing cardiac surgery with neurodevelopmental outcomes at 1 year of age. Study design A 2-center, prospective, randomized trial of postoperative tight glycemic control vs standard care was conducted in 980 children undergoing cardiac surgery. Neurodevelopmental outcomes were assessed at nine to 18 months using the Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III), the Adaptive Behavior Assessment System, Second Edition, the Ages and Stages Questionnaire, Third Edition, and the Brief Infant Toddler Social-Emotional Assessment. Results Neurodevelopmental follow-up was performed on 237 patients with a mean age of 13 months. No significant treatment group differences were found in the Bayley-III and Adaptive Behavior Assessment System, Second Edition composite scores or percentage at risk based on the Ages and Stages Questionnaire, Third Edition and the Brief Infant Toddler Social-Emotional Assessment. Patients who experienced moderate to severe hypoglycemia (n = 8) had lower Bayley-III composite scores compared with patients with no to mild hypoglycemia, even after controlling for factors known to be associated with poorer neurodevelopmental outcomes. Conclusion For infants undergoing cardiac surgery, tight glycemic control did not impact neurodevelopmental outcomes compared with standard care. These data suggest a possible association between moderate to severe hypoglycemia and poorer neurodevelopmental outcomes at 1 year of age. PMID:27112038

Generalization and maintenance of a self-management program for drooling in children with neurodevelopmental disabilities: A second case series

NARCIS (Netherlands)

Burg, J.J.W. van der; Sohier, J.; Jongerius, P.H.

2018-01-01

In this case series (n = 10) with a non-concurrent multiple baseline design, a self-management program was shown to be effective during inpatient training in eight participants with oral-motor problems and normal intelligence or mild intellectual disabilities. They were taught to perform a

Improving the outcome of infants born at <30 weeks' gestation - a randomized controlled trial of preventative care at home

Directory of Open Access Journals (Sweden)

Orton Jane

2009-12-01

Full Text Available Abstract Background Early developmental interventions to prevent the high rate of neurodevelopmental problems in very preterm children, including cognitive, motor and behavioral impairments, are urgently needed. These interventions should be multi-faceted and include modules for caregivers given their high rates of mental health problems. Methods/Design We have designed a randomized controlled trial to assess the effectiveness of a preventative care program delivered at home over the first 12 months of life for infants born very preterm ( Discussion This paper presents the background, study design and protocol for a randomized controlled trial in very preterm infants utilizing a preventative care program in the first year after discharge home designed to improve cognitive, motor and behavioral outcomes of very preterm children and caregiver mental health at two-years' corrected age. Clinical Trial Registration Number ACTRN12605000492651

Two-year follow-up study on neurodevelopmental outcomes after term intrapartum asphyxia using age and stages questionnaire.

Science.gov (United States)

Keihani-Doust, Zarrin; Saeedi, Maryam; Esmaeilni, Tahere; Habibi, Massoud; Nazari, Seyed Saeed Hashemi

2013-12-01

Birth asphyxia is one of the multiple causes of neonatal encephalopathy. The objective of this study was to evaluate neurodevelopmental outcomes of newborn term infants with definitive asphyxia. Thirty infants met study criteria for asphyxia. The 5-year incidence of asphyxia was estimated to be 5.5 in 1000. According to the Age and Stage Questionnaire, 10.5% of 6-month-old infants, 14.3% of 12- and 18-month-old infants, and 5.3% of 24-month-old infants had neurodevelopmental delay in gross motor function in the absence of cerebral palsy. In 7.3% of 18-month-old infants, neurodevelopmental delay in problem-solving ability was observed. Higher values of Apgar score and bicarbonate levels were associated with higher Age and Stage Questionnaire total score. Delivery type, maternal age, gravidity of mother, and existence of mother disease during pregnancy were also associated with lower Age and Stage Questionnaire total score in different stages of life.

Long-Term Neurodevelopmental Outcome after Doxapram for Apnea of Prematurity.

Science.gov (United States)

Ten Hove, Christine H; Vliegenthart, Roseanne J; Te Pas, Arjan B; Brouwer, Emma; Rijken, Monique; van Wassenaer-Leemhuis, Aleid G; van Kaam, Anton H; Onland, Wes

2016-01-01

Doxapram has been advocated as a treatment for persistent apnea of prematurity (AOP). To evaluate the effect of doxapram on long-term neurodevelopmental outcome in preterm infants as its safety still needs to be established. From a retrospective cohort of preterm infants with a gestational age (GA) large, well-designed, placebo-controlled randomized trial. © 2016 The Author(s) Published by S. Karger AG, Basel.

The role of magnetic resonance imaging in the prediction of the neurodevelopmental outcome of acute bilirubin encephalopathy in newborns

OpenAIRE

TATLI, Mustafa Mansur

2009-01-01

Aim: Magnetic resonance imaging (MRI) is widely used in the diagnosis of acute bilirubin encephalopathy, but the relationship between MRI findings and neurodevelopmental outcome in newborns with acute bilirubin encephalopathy remains unclear. The aim of this study was to investigate the relationship between acute bilirubin encephalopathy, MRI findings, and neurodevelopmental outcome. Materials and Methods: The study included 13 infants with acute bilirubin encephalopathy. MRI was performed ...

Autism as early neurodevelopmental disorder: evidence for an sAPPα-mediated anabolic pathway

Directory of Open Access Journals (Sweden)

Debomoy K Lahiri

2013-06-01

Full Text Available Autism is a neurodevelopmental disorder marked by social skills and communication deficits and interfering repetitive behavior. Intellectual disability often accompanies autism. In addition to behavioral deficits, autism is characterized by neuropathology and brain overgrowth. Increased intracranial volume often accompanies this brain growth. We have found that the Alzheimer’s disease (AD associated amyloid-β precursor protein (APP, especially its neuroprotective processing product, secreted APP α (sAPPα, is elevated in persons with autism. This has led to the anabolic hypothesis of autism etiology, in which neuronal overgrowth in the brain results in interneuronal misconnections that may underlie multiple autism symptoms. We review the contribution of research in brain volume and of APP to the anabolic hypothesis, and relate APP to other proteins and pathways that have already been directly associated with autism, such as fragile X mental retardation protein (FMRP, Ras small GTPase/Extracellular Signal-Regulated Kinase (Ras/ERK, and phosphoinositide 3 kinase/protein kinase B/mammalian target of rapamycin (PI3K/Akt/mTOR. We also present additional evidence of MRI intracranial measurements in favor of the anabolic hypothesis. Finally, since it appears that APP’s involvement in autism is part of a multi-partner network, we extend this concept into the inherently interactive realm of epigenetics. We speculate that the underlying molecular abnormalities that influence APP’s contribution to autism are epigenetic markers overlaid onto potentially vulnerable gene sequences due to environmental influence.

Congenital Disabilities (Civil Liability) Act 1976 of 22 July 1976

International Nuclear Information System (INIS)

1976-01-01

The Nuclear Installations Act 1965 has been amended to enable children born disabled in consequence of a breach of duty under the 1965 Act to claim compensation. Although the latter Act is therefore amended, it is provided that the general rules now laid down do not, in themselves, affect operation of the special liability regime provided by the 1965 Act. An injury, for the purposes of the 1965 Act, means that the persons concerned will be able to recover compensation for that injury under that Act from the operator of the nuclear installation concerned, if they can establish that they have been affected in this way and that the cause was a nuclear occurrence or an emission of ionizing radiation for which the operator is liable under the 1965 Act. A woman involved in such an occurrence while she is pregnant with the result that her child is born disabled will be regarded as having been injured, even if she herself has suffered no physical or mental injury. Compensation may be reduced by reason of the fault of the claimant only to the extent that the cause of the injury is attributable to an act of the claimant committed with intent to cause harm or wantonly. (N.E.A.) [fr

Changing outcome for infants of birth-weight 500-999 g born outside level 3 centres in Victoria. The Victorian Infant Collaborative Study Group.

Science.gov (United States)

1997-08-01

The aim of this study of extremely low birth-weight (ELBW, birth weight 500-999 g) infants born in Victoria was to determine the changes between 3 distinct eras; 1979-80, 1985-87, and 1991-2, in the proportions who were born outside level 3 perinatal centres (outborn), the proportions of outborn infants who were transferred after birth to a level 3 neonatal unit, the survival rate for outborn infants, and sensorineural impairment and disability rates in outborn survivors. The proportion of ELBW livebirths who were outborn fell significantly over successive eras, from 30.2% (106 of 351) in 1979-80, to 23.0% (129 of 560) in 1985-87, and to 15.6% (67 of 429) in 1991-92. Between 1979-80 and 1985-87, the proportions who were outborn fell predominantly in those of birth-weight from 800-999 g, whereas between 1985-87 and 1991-92 the proportions who were outborn fell predominantly in those of birth weight 500-799 g. The proportions of outborn infants who were transferred after birth to a level 3 neonatal unit were similar in the 3 eras, at 49.1%, 38.0% and 41.2%, respectively. The survival rates for outborn infants were lower in each era than for infants born in a level 3 perinatal centre. Only 1 outborn infant not transferred after birth to a level-3 unit survived in any era. The survival rates for infants transferred after birth were similar in the first 2 eras, but rose significantly in 1991-92 (34.6%, 36.7% and 60.7%, respectively). The rates of sensorineural impairments and disabilities in survivors fell significantly between the first 2 eras, and remained low in the last era. It is pleasing that the proportion of tiny babies who were outborn fell significantly over time, reflecting increased referral of high-risk mothers to level 3 perinatal centres before birth. For ELBW outborn infants, survival prospects free of substantial disability are reasonable, but not as good as for those born in level 3 perinatal centres.

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…

Neurodevelopmental Outcomes Following Regional Cerebral Perfusion with Neuromonitoring for Neonatal Aortic Arch Reconstruction

Science.gov (United States)

Andropoulos, Dean B.; Easley, R. Blaine; Brady, Ken; McKenzie, E. Dean; Heinle, Jeffrey S.; Dickerson, Heather A.; Shekerdemian, Lara S.; Meador, Marcie; Eisenman, Carol; Hunter, Jill V.; Turcich, Marie; Voigt, Robert G.; Fraser, Charles D.

2013-01-01

Background In this study we report magnetic resonance imaging (MRI) brain injury, and 12 month neurodevelopmental outcomes, when regional cerebral perfusion (RCP) is utilized for neonatal aortic arch reconstruction. Methods Fifty seven neonates receiving RCP during aortic arch reconstruction were enrolled in a prospective outcome study. RCP flows were determined by near-infrared spectroscopy and transcranial Doppler monitoring. Brain MRI were performed preoperatively and 7 days postoperatively. Bayley Scales of Infant Development III was performed at 12 months. Results Mean RCP time was 71 ± 28 minutes (range 5–121), mean flow 56.6 ± 10.6 ml/kg/min. New postoperative MRI brain injury was seen in 40% of patients. For 35 RCP patients at age 12 months, mean Bayley III composite standard scores were: Cognitive = 100.1 ± 14.6,(range 75–125); Language = 87.2 ± 15.0, (range 62–132); Motor = 87.9 ± 16.8, (range 58–121).Increasing duration of RCP was not associated with adverse neurodevelopmental outcomes. Conclusions Neonatal aortic arch repair with RCP utilizing a neuromonitoring strategy results in 12-month cognitive outcomes that are at reference population norms; language and motor outcomes are lower than the reference population norms by 0.8–0.9 standard deviation. This largest RCP group with neurodevelopmental outcomes published to date demonstrates that this technique is effective and safe in supporting the brain during neonatal aortic arch reconstruction. PMID:22766302

[Tick-borne diseases].

Science.gov (United States)

Tissot Dupont, H; Raoult, D

1993-05-01

Due to their worldwide distribution, from hottest to coldest climates, and due to their behaviour, ticks are capable of transmitting numerous human and animal bacterial viral or parasitous diseases. Depending on the disease, they play the role of biological vector or intermediate host. In France, six tick borne diseases are of epidemiologic importance. Q fever (not often tick-borne), Mediterranean Spotted Fever, Lyme disease, Turalemia (human and animal), Babesiosis and Tick-borne Viral Encephalitis.

Reducing distress in mothers of children with autism and other disabilities: a randomized trial.

Science.gov (United States)

Dykens, Elisabeth M; Fisher, Marisa H; Taylor, Julie Lounds; Lambert, Warren; Miodrag, Nancy

2014-08-01

Compared with other parents, mothers of children with autism spectrum disorder or other neurodevelopmental disabilities experience more stress, illness, and psychiatric problems. Although the cumulative stress and disease burden of these mothers is exceptionally high, and associated with poorer outcomes in children, policies and practices primarily serve the identified child with disabilities. A total of 243 mothers of children with disabilities were consented and randomized into either Mindfulness-Based Stress Reduction (mindfulness practice) or Positive Adult Development (positive psychology practice). Well-trained, supervised peer mentors led 6 weeks of group treatments in 1.5-hour weekly sessions, assessing mothers 6 times before, during, and up to 6 months after treatment. Mothers had children with autism (65%) or other disabilities (35%). At baseline, 85% of this community sample had significantly elevated stress, 48% were clinically depressed, and 41% had anxiety disorders. Using slopes-as-outcomes, mixed random effects models, both treatments led to significant reductions in stress, depression, and anxiety, and improved sleep and life satisfaction, with large effects in depression and anxiety. Mothers in Mindfulness-Based Stress Reduction versus Positive Adult Development had greater improvements in anxiety, depression, sleep, and well-being. Mothers of children with autism spectrum disorder improved less in anxiety, but did not otherwise differ from their counterparts. Future studies are warranted on how trained mentors and professionals can address the unmet mental health needs of mothers of children with developmental disabilities. Doing so improves maternal well-being and furthers their long-term caregiving of children with complex developmental, physical, and behavioral needs. Copyright © 2014 by the American Academy of Pediatrics.

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 rhythmic auditory stimulation (P rhythmic auditory stimulation (P rhythmic auditory stimulation showed aggravated maximal internal rotation in the transverse plane (P rhythmic auditory stimulation or neurodevelopmental treatment elicited differential effects on gait patterns in adults with cerebral palsy.

The Influence of Maternal Prenatal and Early Childhood Nutrition and Maternal Prenatal Stress on Offspring Immune System Development and Neurodevelopmental Disorders

Directory of Open Access Journals (Sweden)

Andrea Horvath Marques

2013-07-01

Full Text Available The developing immune system and central nervous system in the fetus and child are extremely sensitive to both exogenous and endogenous signals. Early immune system programming, leading to changes that can persist over the life course, has been suggested, and other evidence suggests that immune dysregulation in the early developing brain may play a role in neurodevelopmental disorders such as autism spectrum disorder and schizophrenia. The timing of immune dysregulation with respect to gestational age and neurologic development of the fetus may shape the elicited response. This creates a possible sensitive window of programming or vulnerability. This review will explore the effects of prenatal maternal and infant nutritional status (from conception until early childhood as well as prenatal maternal stress and anxiety on early programming of immune function, and how this might influence neurodevelopment. We will describe fetal immune system development and maternal-fetal immune interactions to provide a better context for understanding the influence of nutrition and stress on the immune system. Finally, we will discuss the implications for prevention of neurodevelopmental disorders, with a focus on nutrition. Although certain micronutrient supplements have shown to both reduce the risk of neurodevelopmental disorders and enhance fetal immune development, we do not know whether their impact on immune development contributes to the preventive effect on neurodevelopmental disorders. Future studies are needed to elucidate this relationship, which may contribute to a better understanding of preventative mechanisms. Integrating studies of neurodevelopmental disorders and prenatal exposures with the simultaneous evaluation of neural and immune systems will shed light on mechanisms that underlie individual vulnerability or resilience to neurodevelopmental disorders and ultimately contribute to the development of primary preventions and early

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.

Perspectives on Early Power Mobility Training, Motivation, and Social Participation in Young Children with Motor Disabilities

Directory of Open Access Journals (Sweden)

Hsiang-Han Huang

2018-01-01

Full Text Available The efficacy of traditional training programs (e.g., neurodevelopmental therapy in promoting independent mobility and early child development across all three International Classification of Functioning, Disability, and Health levels lacks rigorous research support. Therefore, early power mobility training needs to be considered as a feasible intervention for very young children who are unlikely to achieve independent mobility. This perspective article has three aims: (1 to provide empirical evidence of differences in early independent mobility, motivation, daily life activities, and social participation between young children with typical development and motor disabilities; (2 to discuss the contemporary concepts of and approaches to early power mobility training for young children with motor disabilities and the current need for changes to such training; and (3 to provide recommendations for early power mobility training in pediatric rehabilitation. Independent mobility is critical for social participation; therefore, power mobility can be accessible and implemented as early as possible, specifically for infants who are at risk for mobility or developmental delay. To maximize the positive effects of independent mobility on children’s social participation, early power mobility training must consider their levels of functioning, the amount of exploration and contextual factors, including individual and environmental factors.

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

Regional differences in fiber tractography predict neurodevelopmental outcomes in neonates with infantile Krabbe disease

Directory of Open Access Journals (Sweden)

A. Gupta

2015-01-01

Interpretation: Neonatal microstructural abnormalities correlate with neurodevelopmental treatment outcomes in patients treated for infantile Krabbe disease. DTI with quantitative tractography is an excellent biomarker for evaluating infants with Krabbe disease identified through newborn screening.

Innovative Born Globals

DEFF Research Database (Denmark)

Kraus, Sascha; Brem, Alexander; Muench, Miriam

2017-01-01

Internationalization is a hot topic in innovation management, whereby the phenomenon of “Born Globals” is still limited to research in the domains of Entrepreneurship and International Management. As business model design plays a key role for Born Globals, we link these two concepts. For this, we...... propose hypotheses about the influence of efficiency-centered and novelty-entered business model design on international firm performance. To test these hypotheses, we performed a quantitative survey with 252 founders of international companies in Germany, Switzerland and Liechtenstein. Additionally, we...... gained further insights through a case study analysis of 11 Born Globals. The results show that business model design matters to international firm performance and the business model design of Born Globals tends to be more efficiency-centered. Based on a multiple case study, we analyzed business models...

U.S.-born compared to non-U.S.-born abused women: analysis of baseline data.

Science.gov (United States)

Montalvo-Liendo, Nora; Koci, Anne; McFarlane, Judith; Gilroy, Heidi; Maddoux, John

2013-01-01

It is evident from recent studies that a woman's citizenship status does not exempt her from exposure to partner violence. The purpose of this article was to examine if social support, self-efficacy, and marginalization of abused women differ based on U.S. born compared to non-U.S. born with and without documentation. The findings suggest that women who were born in the United States had significantly higher self-efficacy scores compared to non-U.S.-born women without documents. There were no significant differences in social support among abused women who are U.S. born compared to non-U.S. born with and without documentation. In addition, women who were not born in the United States and did not have documents had higher marginalization.

Subjective Experience of Episodic Memory and Metacognition: A Neurodevelopmental Approach

Science.gov (United States)

Souchay, Céline; Guillery-Girard, Bérengère; Pauly-Takacs, Katalin; Wojcik, Dominika Zofia; Eustache, Francis

2013-01-01

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 (NDDs) 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 NDDs 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. PMID:24399944

Prenatal and early postnatal supplementation with long-chain polyunsaturated fatty acids : neurodevelopmental considerations

NARCIS (Netherlands)

Hadders-Algra, Mijna

2011-01-01

It takes >20 y before the human brain obtains its complex adult configuration. Most dramatic neurodevelopmental changes occur prenatally and early postnatally, including a major transformation in cortical organization 3-4 mo after term. The long-lasting changes have practical implications for

Trends in the Relationship Between Obesity and Disability, 1988-2012.

Science.gov (United States)

Chang, Virginia W; Alley, Dawn E; Dowd, Jennifer Beam

2017-09-15

Rising obesity rates, coupled with population aging, have elicited serious concern over the impact of obesity on disability in later life. Prior work showed a significant increase in the association between obesity and disability from 1988 to 2004, calling attention to disability as a cost of longer lifetime exposure to obesity. It is not known whether this trend has continued. We examined functional impairment and impairment in activities of daily living (ADL) (defined as severe or moderate to severe) for adults aged 60 years or older (n = 16,770) over 3 time periods in the National Health and Nutrition Examination Survey. The relative odds of impairment for obese individuals versus normal-weight individuals significantly increased from period 1 (1988-1994) to period 2 (1999-2004) for all outcomes. In period 3 (2005-2012), this association remained stable for functional and severe ADL impairment and decreased for moderate-to-severe ADL impairment. The fraction of population disability attributable to obesity followed a similar trend. The trend of an increasing association between obesity and disability has leveled off in more recent years, and is even improving for some measures. These findings suggest that public health and policy concerns that obesity would continue to become more disabling over time have not been borne out. © The Author(s) 2017. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Refining the clinical phenotype of Okur–Chung neurodevelopmental syndrome

Science.gov (United States)

Akahira-Azuma, Moe; Tsurusaki, Yoshinori; Enomoto, Yumi; Mitsui, Jun; Kurosawa, Kenji

2018-01-01

We describe an 8-year-old Japanese boy with a de novo recurrent missense mutation in CSNK2A1, c.593A>G, that is causative of Okur–Chung neurodevelopmental syndrome. He exhibited distinctive facial features, severe growth retardation with relative macrocephaly, and friendly, hyperactive behavior. His dysmorphic features might suggest a congenital histone modification defect syndrome, such as Kleefstra, Coffin–Siris, or Rubinstein–Taybi syndromes, which are indicative of functional interactions between the casein kinase II, alpha 1 gene and histone modification factors. PMID:29619237

Inattention and hyperactivity/impulsivity among children with attention-deficit/hyperactivity-disorder, autism spectrum disorder, and intellectual disability.

Science.gov (United States)

McClain, Maryellen Brunson; Hasty Mills, Amber M; Murphy, Laura E

2017-11-01

Attention-Deficit/Hyperactivity Disorder (ADHD), Autism Spectrum Disorder (ASD), and Intellectual Disability (ID) are common co-occurring neurodevelopmental disorders; however, limited research exists regarding the presentation and severity of overlapping symptomology, particularly inattention and hyperactivity/impulsivity, when a child is diagnosed with one of more of these neurodevelopmental disorders. As difficulties with inattention and hyperactivity/impulsivity are symptoms frequently associated with these disorders, the current study aims to determine the differences in the severity of inattention and hyperactivity/impulsivity in children diagnosed with ADHD, ASD, ID, and co-occurring diagnosis of ADHD/ID, ASD/ADHD, and ASD/ID. Participants in the current study included 113 children between the ages of 6 and 11 who were diagnosed with ADHD, ASD, ID, ADHD/ID, ASD/ADHD, or ASD/ID. Two MANOVA analyses were used to compare these groups witih respsect to symptom (i.e., inattention, hyperactivity/impulsivity) severity. Results indicated that the majority of diagnostic groups experienced elevated levels of both inattention and hyperactivity/impulsivity. However, results yielded differences in inattention and hyperactivity/impulsivity severity. In addition, differences in measure sensitivity across behavioral instruments was found. Children with neurodevelopmental disorders often exhibit inattention and hyperactivity/impulsivity, particularly those with ADHD, ASD, ASD/ADHD, and ADHD/ID; therefore, differential diagnosis may be complicated due to similarities in ADHD symptom severity. However, intellectual abilities may be an important consideration for practitioners in the differential diagnosis process as children with ID and ASD/ID exhibited significantly less inattention and hyperactive/impulsive behaviors. Additionally, the use of multiple behavior rating measures in conjunction with other assessment procedures may help practitioners determine the most

Neurodevelopmental outcomes after regional cerebral perfusion with neuromonitoring for neonatal aortic arch reconstruction.

Science.gov (United States)

Andropoulos, Dean B; Easley, R Blaine; Brady, Ken; McKenzie, E Dean; Heinle, Jeffrey S; Dickerson, Heather A; Shekerdemian, Lara S; Meador, Marcie; Eisenman, Carol; Hunter, Jill V; Turcich, Marie; Voigt, Robert G; Fraser, Charles D

2013-02-01

In this study we report magnetic resonance imaging (MRI) brain injury and 12-month neurodevelopmental outcomes when regional cerebral perfusion (RCP) is used for neonatal aortic arch reconstruction. Fifty-seven neonates receiving RCP during aortic arch reconstruction were enrolled in a prospective outcome study. RCP flows were determined by near-infrared spectroscopy and transcranial Doppler monitoring. Brain MRI was performed preoperatively and 7 days postoperatively. Bayley Scales of Infant Development III was performed at 12 months. Mean RCP time was 71 ± 28 minutes (range, 5 to 121 minutes) and mean flow was 56.6 ± 10.6 mL/kg/min. New postoperative MRI brain injury was seen in 40% of patients. For 35 RCP patients at age 12 months, mean Bayley Scales III Composite standard scores were: Cognitive, 100.1 ± 14.6 (range, 75 to 125); Language, 87.2 ± 15.0 (range, 62 to 132); and Motor, 87.9 ± 16.8 (range, 58 to 121). Increasing duration of RCP was not associated with adverse neurodevelopmental outcomes. Neonatal aortic arch repair with RCP using a neuromonitoring strategy results in 12-month cognitive outcomes that are at reference population norms. Language and motor outcomes are lower than the reference population norms by 0.8 to 0.9 standard deviations. The neurodevelopmental outcomes in this RCP cohort demonstrate that this technique is effective and safe in supporting the brain during neonatal aortic arch reconstruction. Copyright © 2013 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

Differences in the self-reported racism experiences of US-born and foreign-born Black pregnant women

OpenAIRE

Dominguez, Tyan Parker; Strong, Emily Ficklin; Krieger, Nancy; Gillman, Matthew W.; Rich-Edwards, Janet W.

2009-01-01

Differential exposure to minority status stressors may help explain differences in United States (US)-born and foreign-born Black women’s birth outcomes. We explored self-reports of racism recorded in a survey of 185 US-born and 114 foreign-born Black pregnant women enrolled in Project Viva, a prospective cohort study of pregnant women in Boston, Massachusetts, USA. Self-reported prevalence of personal racism and group racism was significantly higher among US-born than foreign-born Black preg...

Understanding differences in access and use of healthcare between international immigrants to Chile and the Chilean-born: a repeated cross-sectional population-based study in Chile.

Science.gov (United States)

Cabieses, Baltica; Tunstall, Helena; Pickett, Kate E; Gideon, Jasmine

2012-11-16

International evidence indicates consistently lower rates of access and use of healthcare by international immigrants. Factors associated with this phenomenon vary significantly depending on the context. Some research into the health of immigrants has been conducted in Latin America, mostly from a qualitative perspective. This population-based study is the first quantitative study to explore healthcare provision entitlement and use of healthcare services by immigrants in Chile and compare them to the Chilean-born. Data come from the nationally representative CASEN (Socioeconomic characterization of the population in Chile) surveys, conducted in 2006 and 2009. Self-reported immigrants were compared to the Chilean-born, by demographic characteristics (age, sex, urban/rural, household composition, ethnicity), socioeconomic status (SES: education, household income, contractual status), healthcare provision entitlement (public, private, other, none), and use of primary services. Weighted descriptive, stratified and adjusted regression models were used to analyse factors associated with access to and use of healthcare. There was an increase in self-reported immigrant status and in household income inequality among immigrants between 2006 and 2009. Over time there was a decrease in the rate of immigrants reporting no healthcare provision and an increase in reporting of private healthcare provision entitlement. Compared to the Chilean-born, immigrants reported higher rates of use of antenatal and gynaecological care, lower use of well-baby care, and no difference in the use of Pap smears or the number of attentions received in the last three months. Immigrants in the bottom income quintile were four times more likely to report no healthcare provision than their equivalent Chilean-born group (with different health needs, i.e. vertical inequity). Disabled immigrants were more likely to have no healthcare provision compared to the disabled Chilean-born (with similar health

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.

Science.gov (United States)

Witteveen, Josefine S; Willemsen, Marjolein H; Dombroski, Thaís C D; van Bakel, Nick H M; Nillesen, Willy M; van Hulten, Josephus A; Jansen, Eric J R; Verkaik, Dave; Veenstra-Knol, Hermine E; van Ravenswaaij-Arts, Conny M A; Wassink-Ruiter, Jolien S Klein; Vincent, Marie; David, Albert; Le Caignec, Cedric; Schieving, Jolanda; Gilissen, Christian; Foulds, Nicola; Rump, Patrick; Strom, Tim; Cremer, Kirsten; Zink, Alexander M; Engels, Hartmut; de Munnik, Sonja A; Visser, Jasper E; Brunner, Han G; Martens, Gerard J M; Pfundt, Rolph; Kleefstra, Tjitske; Kolk, Sharon M

2016-08-01

Numerous genes are associated with neurodevelopmental disorders such as intellectual disability and autism spectrum disorder (ASD), but their dysfunction is often poorly characterized. Here we identified dominant mutations in the gene encoding the transcriptional repressor and MeCP2 interactor switch-insensitive 3 family member A (SIN3A; chromosome 15q24.2) in individuals who, in addition to mild intellectual disability and ASD, share striking features, including facial dysmorphisms, microcephaly and short stature. This phenotype is highly related to that of individuals with atypical 15q24 microdeletions, linking SIN3A to this microdeletion syndrome. Brain magnetic resonance imaging showed subtle abnormalities, including corpus callosum hypoplasia and ventriculomegaly. Intriguingly, in vivo functional knockdown of Sin3a led to reduced cortical neurogenesis, altered neuronal identity and aberrant corticocortical projections in the developing mouse brain. Together, our data establish that haploinsufficiency of SIN3A is associated with mild syndromic intellectual disability and that SIN3A can be considered to be a key transcriptional regulator of cortical brain development.

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

NARCIS (Netherlands)

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

2016-01-01

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

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

Changing Survival Rate of Infants Born Before 26 Gestational Weeks; Single-centre study

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Asad Rahman

2015-08-01

Full Text Available Objectives: This study aimed to evaluate the changing survival rate and morbidities among infants born before 26 gestational weeks at the Sultan Qaboos University Hospital (SQUH in Muscat, Oman. Methods: This retrospective study assessed the mortality and morbidities of all premature infants born alive at 23–26 gestational weeks at SQUH between June 2006 and May 2013. Infants referred to SQUH within 72 hours of birth during this period were also included. Electronic records were reviewed for gestational age, gender, birth weight, maternal age, mode and place of delivery, antenatal steroid administration, morbidity and outcome. The survival rate was calculated and findings were then compared with those of a previous study conducted in the same hospital from 1991 to 1998. Rates of major morbidities were also calculated. Results: A total of 81 infants between 23–26 gestational weeks were admitted to the neonatal unit during the study period. Of these, 58.0% were male and 42.0% were female. Median gestational age was 25 weeks and mean birth weight was 770 ± 150 g. Of the 81 infants, 49 survived. The overall survival rate was 60.5% compared to 41% reported in the previous study. Respiratory distress syndrome (100.0%, retinopathy of prematurity (51.9%, bronchopulmonary dysplasia (34.6%, intraventricular haemorrhage (30.9% and patent ductus arteriosus (28.4% were the most common morbidities. Conclusion: The overall survival rate of infants between 23–26 gestational weeks during the study period had significantly improved in comparison to that found at the same hospital from 1991 to 1998. There is a need for the long-term neurodevelopmental follow-up of premature infants.

Changing Survival Rate of Infants Born Before 26 Gestational Weeks: Single-centre study.

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Rahman, Asad; Abdellatif, Mohamed; Sharef, Sharef W; Fazalullah, Muhammad; Al-Senaidi, Khalfan; Khan, Ashfaq A; Ahmad, Masood; Kripail, Mathew; Abuanza, Mazen; Bataclan, Flordeliza

2015-08-01

This study aimed to evaluate the changing survival rate and morbidities among infants born before 26 gestational weeks at the Sultan Qaboos University Hospital (SQUH) in Muscat, Oman. This retrospective study assessed the mortality and morbidities of all premature infants born alive at 23-26 gestational weeks at SQUH between June 2006 and May 2013. Infants referred to SQUH within 72 hours of birth during this period were also included. Electronic records were reviewed for gestational age, gender, birth weight, maternal age, mode and place of delivery, antenatal steroid administration, morbidity and outcome. The survival rate was calculated and findings were then compared with those of a previous study conducted in the same hospital from 1991 to 1998. Rates of major morbidities were also calculated. A total of 81 infants between 23-26 gestational weeks were admitted to the neonatal unit during the study period. Of these, 58.0% were male and 42.0% were female. Median gestational age was 25 weeks and mean birth weight was 770 ± 150 g. Of the 81 infants, 49 survived. The overall survival rate was 60.5% compared to 41% reported in the previous study. Respiratory distress syndrome (100.0%), retinopathy of prematurity (51.9%), bronchopulmonary dysplasia (34.6%), intraventricular haemorrhage (30.9%) and patent ductus arteriosus (28.4%) were the most common morbidities. The overall survival rate of infants between 23-26 gestational weeks during the study period had significantly improved in comparison to that found at the same hospital from 1991 to 1998. There is a need for the long-term neurodevelopmental follow-up of premature infants.

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

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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.

Multimodal predictor of neurodevelopmental outcome in newborns with hypoxic-ischaemic encephalopathy.

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Temko, Andriy; Doyle, Orla; Murray, Deirdre; Lightbody, Gordon; Boylan, Geraldine; Marnane, William

2015-08-01

Automated multimodal prediction of outcome in newborns with hypoxic-ischaemic encephalopathy is investigated in this work. Routine clinical measures and 1h EEG and ECG recordings 24h after birth were obtained from 38 newborns with different grades of HIE. Each newborn was reassessed at 24 months to establish their neurodevelopmental outcome. A set of multimodal features is extracted from the clinical, heart rate and EEG measures and is fed into a support vector machine classifier. The performance is reported with the statistically most unbiased leave-one-patient-out performance assessment routine. A subset of informative features, whose rankings are consistent across all patients, is identified. The best performance is obtained using a subset of 9 EEG, 2h and 1 clinical feature, leading to an area under the ROC curve of 87% and accuracy of 84% which compares favourably to the EEG-based clinical outcome prediction, previously reported on the same data. The work presents a promising step towards the use of multimodal data in building an objective decision support tool for clinical prediction of neurodevelopmental outcome in newborns with hypoxic-ischaemic encephalopathy. Copyright © 2015 Elsevier Ltd. All rights reserved.

Neurodevelopmental disruption of cortico-striatal function caused by degeneration of habenula neurons.

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Young-A Lee

2011-04-01

Full Text Available The habenula plays an important role on cognitive and affective functions by regulating monoamines transmission such as the dopamine and serotonin, such that its dysfunction is thought to underlie a number of psychiatric conditions. Given that the monoamine systems are highly vulnerable to neurodevelopmental insults, damages in the habenula during early neurodevelopment may cause devastating effects on the wide-spread brain areas targeted by monoamine innervations.Using a battery of behavioral, anatomical, and biochemical assays, we examined the impacts of neonatal damage in the habenula on neurodevelopmental sequelae of the prefrontal cortex (PFC and nucleus accumbens (NAcc and associated behavioral deficits in rodents. Neonatal lesion of the medial and lateral habenula by ibotenic acid produced an assortment of behavioral manifestations consisting of hyper-locomotion, impulsivity, and attention deficit, with hyper-locomotion and impulsivity being observed only in the juvenile period, whereas attention deficit was sustained up until adulthood. Moreover, these behavioral alterations were also improved by amphetamine. Our study further revealed that impulsivity and attention deficit were associated with disruption of PFC volume and dopamine (DA receptor expression, respectively. In contrast, hyper-locomotion was associated with decreased DA transporter expression in the NAcc. We also found that neonatal administration of nicotine into the habenula of neonatal brains produced selective lesion of the medial habenula. Behavioral deficits with neonatal nicotine administration were similar to those caused by ibotenic acid lesion of both medial and lateral habenula during the juvenile period, whereas they were different in adulthood.Because of similarity between behavioral and brain alterations caused by neonatal insults in the habenula and the symptoms and suggested neuropathology in attention deficit/hyperactivity disorder (ADHD, these results

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

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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.

Motor trajectories from birth to 5 years of children born at less than 30 weeks' gestation: early predictors and functional implications. Protocol for a prospective cohort study.

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Spittle, Alicia J; McGinley, Jennifer L; Thompson, Deanne; Clark, Ross; FitzGerald, Tara L; Mentiplay, Benjamin F; Lee, Katherine J; Olsen, Joy E; Burnett, Alice; Treyvaud, Karli; Josev, Elisha; Alexander, Bonnie; Kelly, Claire E; Doyle, Lex W; Anderson, Peter J; Cheong, Jeanie Ly

2016-10-01

Motor impairments are one of the most frequently reported adverse neurodevelopmental consequences in children born motor impairment at school age. The first 5 years of life are critical for the development of fundamental motor skills. These skills form the basis for more complex skills that are required to competently and confidently participate in schooling, sporting and recreational activities. In children born at motor development from birth to 5 years is not fully understood. The neural alterations that underpin motor impairments in these children are also unclear. It is essential to determine if early clinical evaluations and neuroimaging biomarkers can predict later motor impairment and associated functional problems at 5 years of age. This will help to identify children who will benefit the most from early intervention and improve functional outcomes at school age. The primary aim of this study is to compare the prevalence of motor impairment from birth to 5 years of age between children born at motor assessments in the newborn period in those born at motor functioning at 5 years of age. Secondary aims for children born at motor impairments at 5 years are detectable in the neonatal period; 2) to investigate the association between motor impairments and concurrent deficits in body structure and function at 5 years of age; and 3) to explore how motor impairments at 5 years (including abnormalities of gait, postural control and strength) are associated with concurrent functional outcomes, including physical activity, cognitive ability, learning ability, and behavioural and emotional problems. Prospective longitudinal cohort study. 150 preterm children (born at 36 completed weeks' gestation and weighing > 2499g) admitted to the Royal Women's Hospital, Melbourne, were recruited at birth and will be invited to participate in a 5-year follow-up study. This study will examine previously collected data (from birth to 2 years) that comprise detailed motor assessments

One-stage tooth-borne distraction versus two stage bone-borne distraction in surgically assisted maxillary expansion (SARME).

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Seeberger, Robin; Abe-Nickler, Dorothee; Hoffmann, Jürgen; Kunzmann, Kevin; Zingler, Sebastian

2015-12-01

To evaluate and compare the effects of tooth-borne and bone-borne distraction devices in surgically assisted maxillary expansion (SARME) on dental and skeletal structures. A sample of 33 skeletally mature patients with transverse maxillary deficiencies was examined with cone beam computed tomography (CBCT) before and 3 months after surgery. Fourteen patients were treated with tooth-borne devices and 19 patients with bone-borne devices. Dental crown expansion in the first premolars did not differ significantly between the two groups, and median expansion was 5.55 mm (interquartile range [IQR] 5.23) in the tooth-borne device group and 4.6 mm (IQR 3.4) in the bone-borne device group. In the first molars, crown expansion and lateral tipping were significantly greater in the tooth-borne device group (P ≤ .02). The median skeletal nasal isthmus increase was significantly more in the bone-borne device group at 3.0 mm than in the tooth-borne device group at 0.98 mm (P ≤ .02). Both tooth-borne and bone-borne devices are effective treatment modalities to correct maxillary transverse deficiencies. Bone-borne devices produced greater widening of the skeletal nasal floor and fewer dental side effects in the first molars. Copyright © 2015 Elsevier Inc. All rights reserved.

Neurodevelopmental disorders: cluster 2 of the proposed meta-structure for DSM-V and ICD-11.

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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.

Analysis of Intellectual Disability Copy Number Variants for Association With Schizophrenia.

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Rees, Elliott; Kendall, Kimberley; Pardiñas, Antonio F; Legge, Sophie E; Pocklington, Andrew; Escott-Price, Valentina; MacCabe, James H; Collier, David A; Holmans, Peter; O'Donovan, Michael C; Owen, Michael J; Walters, James T R; Kirov, George

2016-09-01

At least 11 rare copy number variants (CNVs) have been shown to be major risk factors for schizophrenia (SZ). These CNVs also increase the risk for other neurodevelopmental disorders, such as intellectual disability. It is possible that additional intellectual disability-associated CNVs increase the risk for SZ but have not yet been implicated in SZ because of previous studies being underpowered. To examine whether additional CNVs implicated in intellectual disability represent novel SZ risk loci. We used single-nucleotide polymorphism (SNP) array data to evaluate a set of 51 CNVs implicated in intellectual disability (excluding the known SZ loci) in a large data set of patients with SZ and healthy persons serving as controls recruited in a variety of settings. We analyzed a new sample of 6934 individuals with SZ and 8751 controls and combined those data with previously published large data sets for a total of 20 403 cases of SZ and 26 628 controls. Burden analysis of CNVs implicated in intellectual disability (excluding known SZ CNVs) for association with SZ. Association of individual intellectual disability CNV loci with SZ. Of data on the 20 403 cases (6151 [30.15%] female) and 26 628 controls (14 252 [53.52%] female), 51 intellectual disability CNVs were analyzed. Collectively, intellectual disability CNVs were significantly enriched for SZ (P = 1.0 × 10-6; odds ratio [OR], 1.9 [95% CI, 1.46-2.49]). Of the 51 CNVs tested, 19 (37%) were more common in SZ cases; only 4 (8%) were more common in controls (no observations were made for the remaining 28 [55%] loci). One novel locus, deletion at 16p12.1, was significantly associated with SZ after correction for multiple testing (rate in SZ, 33 [0.16%]; rate in controls, 12 [0.05%]; corrected P = .017; OR, 3.3; 95% CI, 1.61-7.05), and 2 loci reached nominal levels of significance (deletions at 2q11.2: 6 [0.03%] vs 1 [0.004%]; OR, 9.3; 95% CI, 1.03-447.76; corrected P > .99; and duplications

Legal aspects of public health: difficulties in controlling vector-borne and zoonotic diseases in Brazil.

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Mendes, Marcílio S; de Moraes, Josué

2014-11-01

In recent years, vector-borne and zoonotic diseases have become a major challenge for public health. Dengue fever and leptospirosis are the most important communicable diseases in Brazil based on their prevalence and the healthy life years lost from disability. The primary strategy for preventing human exposure to these diseases is effective insect and rodent control in and around the home. However, health authorities have difficulties in controlling vector-borne and zoonotic diseases because residents often refuse access to their homes. This study discusses aspects related to the activities performed by Brazilian health authorities to combat vector-borne and zoonotic diseases, particularly difficulties in relation to the legal aspect, which often impede the quick and effective actions of these professionals. How might it be possible to reconcile the need to preserve public health and the rule on the inviolability of the home, especially in the case of abandoned properties or illegal residents and the refusal of residents to allow the health authority access? Do residents have the right to hinder the performance of health workers even in the face of a significant and visible focus of disease transmission? This paper argues that a comprehensive legal plan aimed at the control of invasive vector-borne and zoonotic diseases including synanthropic animals of public health importance should be considered. In addition, this paper aims to bridge the gap between lawyers and public health professionals and to facilitate communication between them. Copyright © 2014 Elsevier B.V. All rights reserved.

Neurodevelopmental outcomes of near-term small-for-gestational-age infants with and without signs of placental underperfusion.

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Parra-Saavedra, Miguel; Crovetto, Francesca; Triunfo, Stefania; Savchev, Stefan; Peguero, Anna; Nadal, Alfons; Parra, Guido; Gratacos, Eduard; Figueras, Francesc

2014-04-01

To evaluate 2-year neurodevelopmental outcomes of near-term, small-for-gestational-age (SGA) newborns segregated by presence or absence of histopathology reflecting placental underperfusion (PUP). A cohort of consecutive near-term (≥ 34.0 weeks) SGA newborns with normal prenatal umbilical artery Doppler studies was selected. All placentas were inspected for evidence of underperfusion and classified in accordance with established histologic criteria. Neurodevelopmental outcomes at 24 months (age-corrected) were then evaluated, applying the Bayley Scale for Infant and Toddler Development, Third Edition (Bayley-III) to assess cognitive, language, and motor competencies. The impact of PUP on each domain was measured via analysis of covariance, logistic and ordinal regression, with adjustment for smoking, socioeconomic status, gestational age at birth, gender, and breastfeeding. A total of 83 near-term SGA deliveries were studied, 46 (55.4%) of which showed signs of PUP. At 2 years, adjusted neurodevelopmental outcomes were significantly poorer in births involving PUP (relative to SGA infants without PUP) for all three domains of the Bayley scale: cognitive (105.5 vs 96.3, adjusted-p = 0.03), language (98.6 vs 87.8, adjusted-p<0.001), and motor (102.7 vs 94.5, adjusted-p = 0.007). Similarly, the adjusted likelihood of abnormal cognitive, language, and motor competencies in instances of underperfusion was 9.3-, 17.5-, and 1.44-fold higher, respectively, differing significantly for the former two domains. In a substantial fraction of near-term SGA babies without Doppler evidence of placental insufficiency, histologic changes compatible with PUP are still identifiable. These infants are at greater risk of abnormal neurodevelopmental outcomes at 2 years. Copyright © 2014 Elsevier Ltd. All rights reserved.

Estimates of state-level health-care expenditures associated with disability.

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Anderson, Wayne L; Armour, Brian S; Finkelstein, Eric A; Wiener, Joshua M

2010-01-01

We estimated state-level disability-associated health-care expenditures (DAHE) for the U.S. adult population. We used a two-part model to estimate DAHE for the noninstitutionalized U.S. civilian adult population using data from the 2002-2003 Medical Expenditure Panel Survey and state-level data from the Behavioral Risk Factor Surveillance System. Administrative data for people in institutions were added to generate estimates for the total adult noninstitutionalized population. Individual-level data on total health-care expenditures along with demographic, socioeconomic, geographic, and payer characteristics were used in the models. The DAHE for all U.S. adults totaled $397.8 billion in 2006, with state expenditures ranging from $598 million in Wyoming to $40.1 billion in New York. Of the national total, the DAHE were $118.9 billion for the Medicare population, $161.1 billion for Medicaid recipients, and $117.8 billion for the privately insured and uninsured populations. For the total U.S. adult population, 26.7% of health-care expenditures were associated with disability, with proportions by state ranging from 16.9% in Hawaii to 32.8% in New York. This proportion varied greatly by payer, with 38.1% for Medicare expenditures, 68.7% for Medicaid expenditures, and 12.5% for nonpublic health-care expenditures associated with disability. DAHE vary greatly by state and are borne largely by the public sector, and particularly by Medicaid. Policy makers need to consider initiatives that will help reduce the prevalence of disabilities and disability-related health disparities, as well as improve the lives of people with disabilities.

[Socioeconomic costs of food-borne disease using the cost-of-illness model: applying the QALY method].

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Shin, Hosung; Lee, Suehyung; Kim, Jong Soo; Kim, Jinsuk; Han, Kyu Hong

2010-07-01

This study estimated the annual socioeconomic costs of food-borne disease in 2008 from a societal perspective and using a cost-of-illness method. Our model employed a comprehensive set of diagnostic disease codes to define food-borne diseases with using the Korea National Health Insurance (KNHI) reimbursement data. This study classified the food borne illness as three types of symptoms according to the severity of the illness: mild, moderate, severe. In addition to the traditional method of assessing the cost-of-illness, the study included measures to account for the lost quality of life. We estimated the cost of the lost quality of life using quality-adjusted life years and a visual analog scale. The direct cost included medical and medication costs, and the non-medical costs included transportation costs, caregiver's cost and administration costs. The lost productivity costs included lost workdays due to illness and lost earnings due to premature death. The study found the estimated annual socioeconomic costs of food-borne disease in 2008 were 954.9 billion won (735.3 billion won-996.9 billion won). The medical cost was 73.4 - 76.8% of the cost, the lost productivity cost was 22.6% and the cost of the lost quality of life was 26.0%. Most of the cost-of-illness studies are known to have underestimated the actual socioeconomic costs of the subjects, and these studies excluded many important social costs, such as the value of pain, suffering and functional disability. The study addressed the uncertainty related to estimating the socioeconomic costs of food-borne disease as well as the updated cost estimates. Our estimates could contribute to develop and evaluate policies for food-borne disease.

Vitamin D deficiency: infertility and neurodevelopmental diseases (attention deficit hyperactivity disorder, autism, and schizophrenia).

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Berridge, Michael J

2018-02-01

The process of development depends on a number of signaling systems that regulates the progressive sequence of developmental events. Infertility and neurodevelopmental diseases, such as attention deficit hyperactivity disorder, autism spectrum disorders, and schizophrenia, are caused by specific alterations in these signaling processes. Calcium signaling plays a prominent role throughout development beginning at fertilization and continuing through early development, implantation, and organ differentiation such as heart and brain development. Vitamin D plays a major role in regulating these signaling processes that control development. There is an increase in infertility and an onset of neurodevelopmental diseases when vitamin D is deficient. The way in which vitamin D deficiency acts to alter development is a major feature of this review. One of the primary functions of vitamin D is to maintain the phenotypic stability of both the Ca 2+ and redox signaling pathways that play such a key role throughout development.

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

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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.

Neurodevelopmental marker for limbic maldevelopment in antisocial personality disorder and psychopathy

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

2010-01-01

Background Antisocial personality disorder and psychopathy have been hypothesised to have a neurodevelopmental basis, but this proposition has not been formally tested. Aims 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. Method 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. Results 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. Conclusions 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. PMID:20807962

Participation of children with neurodevelopmental risk factors in the early rehabilitation program in relation to the level of parental education.

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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.

A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features.

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Vinkler, Chana; Leshinsky-Silver, Esther; Michelson, Marina; Haas, Dorothea; Lerman-Sagie, Tally; Lev, Dorit

2014-01-01

Genetic syndromes with proportionate severe short stature are rare. We describe two sisters born to nonconsanguineous parents with severe linear growth retardation, poor weight gain, microcephaly, characteristic facial features, cutaneous syndactyly of the toes, high myopia, and severe intellectual disability. During infancy and early childhood, the girls had transient hepatosplenomegaly and low blood cholesterol levels that normalized later. A thorough evaluation including metabolic studies, radiological, and genetic investigations were all normal. Cholesterol metabolism and transport were studied and no definitive abnormality was found. No clinical deterioration was observed and no metabolic crises were reported. After due consideration of other known hereditary causes of post-natal severe linear growth retardation, microcephaly, and intellectual disability, we propose that this condition represents a newly recognized autosomal recessive multiple congenital anomaly-intellectual disability syndrome. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Becoming disabled: The association between disability onset in younger adults and subsequent changes in productive engagement, social support, financial hardship and subjective wellbeing.

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Emerson, Eric; Kariuki, Maina; Honey, Anne; Llewellyn, Gwynnyth

2014-10-01

Very few population-based studies have investigated the association between the onset of health conditions/impairments associated with disability and subsequent well-being. To examine the association between the onset of disability and four indicators of well-being (full-time engagement in employment or education, financial hardship, social support, subjective well-being) among a nationally representative sample of Australian adolescents and young adults. Secondary analysis of the first eight waves (2001-2008) of the survey of Household Income and Labour Dynamics in Australia. For financial hardship and subjective well-being, the majority of participants belonged to trajectory classes for which there was no evidence that the onset of disability was associated with a subsequent lowering of well-being. For participation in employment and education, the majority of participants belonged to trajectory classes for which there was evidence of a modest immediate reduction in participation rates followed by subsequent stability. For social support, the majority of participants belonged to trajectory classes for which there was evidence of a modest temporary reduction in support followed by rebound back to initial levels. Membership of classes associated with poorer outcomes was associated with a number of covariates including: male gender; younger age of disability onset; being born overseas; not living with both parents at age 14; lower proficiency in the English language; and parental education being year 12 or below. The results of our analyses illustrate the existence of clear empirically defined trajectory classes following the onset of disability across a range of indicators of well-being. Copyright © 2014 Elsevier Inc. All rights reserved.

Clinical feasibility of pre-operative neurodevelopmental assessment of infants undergoing open heart surgery.

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Campbell, Miranda; Rabbidge, Bridgette; Ziviani, Jenny; Sakzewski, Leanne

2017-08-01

Assessing the neurodevelopmental status of infants with congenital heart disease before surgery provides a means of identifying those at heightened risk of developmental delay. This study aimed to investigate factors impacting clinical feasibility of pre-operative neurodevelopmental assessment of infants undergoing early open heart surgery. Infants who underwent open heart surgery prior to 4 months of age participated in this cross-sectional study. The Test of Infant Motor Performance and Prechtl's Assessment of General Movements were undertaken on infants pre-operatively. When assessments could not be undertaken, reasons were ascribed to either infant or environmental circumstances. Demographic data and Aristotle scores were compared between groups of infants who did or did not undergo assessment. Binary logistic regression was used to explore associations. A total of 60 infants participated in the study. Median gestational age was 38.78 weeks (interquartile range: 36.93-39.72). Of these infants, 37 (62%) were unable to undergo pre-operative assessment. Twenty-four (40%) could not complete assessment due to infant-related factors and 13 (22%) due to environmental-related factors. For every point increase in the Aristotle Patient-Adjusted Complexity score, the infants likelihood of being unable to undergo assessment increased by 35% (odds ratio: 0.35; 95% confidence interval: 1.03-1.77, P = 0.03). Over half of the infants undergoing open heart surgery were unable to complete pre-operative neurodevelopmental assessment. The primary reason for this was infant-related medical instability. Findings suggest further research is warranted to investigate whether the Aristotle Patient-Adjusted Complexity score might serve as an indicator to inform developmental surveillance with this medically fragile cohort. © 2017 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).

Tick-Borne Encephalitis (TBE)

Science.gov (United States)

... virus, Siberian tick-borne encephalitis virus, and Far eastern Tick-borne encephalitis virus (formerly known as Russian ... viruses are closely related to TBEV and Far-eastern TBE, and include Omsk hemorrhagic fever virus in ...

Influence of CHDs on psycho-social and neurodevelopmental outcomes in children with Down syndrome.

Science.gov (United States)

Visootsak, Jeannie; Huddleston, Lillie; Buterbaugh, Allison; Perkins, Adrienne; Sherman, Stephanie; Hunter, Jessica

2016-02-01

To evaluate the family psycho-social outcomes of children with Down syndrome and atrioventricular septal defect, and examine the impact of these variables on the child's neurodevelopmental outcome. This was a cross-sectional study that consisted of 57 children with Down syndrome - 20 cases and 37 controls - of ~12-14 months of age. In both groups, we assessed the development of the child, the quality of the child's home environment, and parenting stress. Compared with the Down syndrome without CHD group, the atrioventricular septal defect group revealed lower scores in all developmental domains, less optimal home environments, and higher parental stress. Significant differences in development were seen in the areas of cognition (p=0.04), expressive language (p=0.05), and gross motor (pneurodevelopmental deficits. Finding that parental stress and home environment may play a role in the neurodevelopmental outcomes may prompt new family-directed interventions and anticipatory guidance for the families of children with Down syndrome who have a CHD.

Racial/ethnic disparities in obesity among US-born and foreign-born adults by sex and education.

Science.gov (United States)

Barrington, Debbie S; Baquero, Maria C; Borrell, Luisa N; Crawford, Natalie D

2010-02-01

This study examines sex and education variations in obesity among US- and foreign-born whites, blacks, and Hispanics utilizing 1997-2005 data from the National Health Interview Survey on 267,585 adults aged > or =18 years. After adjusting for various demographic, health, and socioeconomic factors via logistic regression, foreign-born black men had the lowest odds for obesity relative to US-born white men. The largest racial/ethnic disparity in obesity was between US-born black and white women. High educational attainment diminished the US-born black-white and Hispanic-white disparities among women, increased these disparities among men, and had minimal effect on foreign-born Hispanic-white disparities among women and men. Comprehension of these relationships is vital for conducting effective obesity research and interventions within an increasingly diverse United States.

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.

Differences in sleep habits, study time, and academic performance between US-born and foreign-born college students.

Science.gov (United States)

Eliasson, Arne H; Eliasson, Arn H; Lettieri, Christopher J

2017-05-01

To inform the design of a sleep improvement program for college students, we assessed academic performance, sleep habits, study hours, and extracurricular time, hypothesizing that there would be differences between US-born and foreign-born students. Questionnaires queried participants on bedtimes, wake times, nap frequency, differences in weekday and weekend sleep habits, study hours, grade point average, time spent at paid employment, and other extracurricular activities. Comparisons were made using chi square tests for categorical data and t tests for continuous data between US-born and foreign-born students. Of 120 participants (55 % women) with racial diversity (49 whites, 18 blacks, 26 Hispanics, 14 Asians, and 13 other), 49 (41 %) were foreign-born. Comparisons between US-born and foreign-born students showed no differences in average age or gender though US-born had more whites. There were no differences between US-born and foreign-born students for grade point averages, weekday bedtimes, wake times, or total sleep times. However, US-born students averaged 50 min less study time per day (p = 0.01), had almost 9 h less paid employment per week (14.5 vs 23.4 h per week, p = 0.001), and stayed up to socialize more frequently (63 vs 43 %, p = 0.03). Foreign-born students awakened an hour earlier and averaged 40 min less sleep per night on weekends. Cultural differences among college students have a profound effect on sleep habits, study hours, and extracurricular time. The design of a sleep improvement program targeting a population with diverse cultural backgrounds must factor in such behavioral variations in order to have relevance and impact.

Twin Birth Study: 2-year neurodevelopmental follow-up of the randomized trial of planned cesarean or planned vaginal delivery for twin pregnancy.

Science.gov (United States)

Asztalos, Elizabeth V; Hannah, Mary E; Hutton, Eileen K; Willan, Andrew R; Allen, Alexander C; Armson, B Anthony; Gafni, Amiram; Joseph, K S; Ohlsson, Arne; Ross, Susan; Sanchez, J Johanna; Mangoff, Kathryn; Barrett, Jon F R

2016-03-01

The Twin Birth Study randomized women with uncomplicated pregnancies, between 32(0/7)-38(6/7) weeks' gestation where the first twin was in cephalic presentation, to a policy of either a planned cesarean or planned vaginal delivery. The primary analysis showed that planned cesarean delivery did not increase or decrease the risk of fetal/neonatal death or serious neonatal morbidity as compared with planned vaginal delivery. This study presents the secondary outcome of death or neurodevelopmental delay at 2 years of age. A total of 4603 children from the initial cohort of 5565 fetuses/infants (83%) contributed to the outcome of death or neurodevelopmental delay. Surviving children were screened using the Ages and Stages Questionnaire with abnormal scores validated by a clinical neurodevelopmental assessment. The effect of planned cesarean vs planned vaginal delivery on death or neurodevelopmental delay was quantified using a logistic model to control for stratification variables and using generalized estimating equations to account for the nonindependence of twin births. Baseline maternal, pregnancy, and infant characteristics were similar. Mean age at assessment was 26 months. There was no significant difference in the outcome of death or neurodevelopmental delay: 5.99% in the planned cesarean vs 5.83% in the planned vaginal delivery group (odds ratio, 1.04; 95% confidence interval, 0.77-1.41; P = .79). A policy of planned cesarean delivery provides no benefit to children at 2 years of age compared with a policy of planned vaginal delivery in uncomplicated twin pregnancies between 32(0/7)-38(6/7)weeks' gestation where the first twin is in cephalic presentation. Copyright © 2016 Elsevier Inc. All rights reserved.

The child neurology clinical workforce in 2015: Report of the AAP/CNS Joint Taskforce.

Science.gov (United States)

Kang, Peter B; Bale, James F; Mintz, Mark; Joshi, Sucheta M; Gilbert, Donald L; Radabaugh, Carrie; Ruch-Ross, Holly

2016-09-27

More than a decade has passed since the last major workforce survey of child neurologists in the United States; thus, a reassessment of the child neurology workforce is needed, along with an inaugural assessment of a new related field, neurodevelopmental disabilities. The American Academy of Pediatrics and the Child Neurology Society conducted an electronic survey in 2015 of child neurologists and neurodevelopmental disabilities specialists. The majority of respondents participate in maintenance of certification, practice in academic medical centers, and offer subspecialty care. EEG reading and epilepsy care are common subspecialty practice areas, although many child neurologists have not had formal training in this field. In keeping with broader trends, medical school debts are substantially higher than in the past and will often take many years to pay off. Although a broad majority would choose these fields again, there are widespread dissatisfactions with compensation and benefits given the length of training and the complexity of care provided, and frustrations with mounting regulatory and administrative stresses that interfere with clinical practice. Although not unique to child neurology and neurodevelopmental disabilities, such issues may present barriers for the recruitment of trainees into these fields. Creative approaches to enhance the recruitment of the next generation of child neurologists and neurodevelopmental disabilities specialists will benefit society, especially in light of all the exciting new treatments under development for an array of chronic childhood neurologic disorders. © 2016 American Academy of Neurology.

The child neurology clinical workforce in 2015

Science.gov (United States)

Bale, James F.; Mintz, Mark; Joshi, Sucheta M.; Gilbert, Donald L.; Radabaugh, Carrie; Ruch-Ross, Holly

2016-01-01

Objectives: More than a decade has passed since the last major workforce survey of child neurologists in the United States; thus, a reassessment of the child neurology workforce is needed, along with an inaugural assessment of a new related field, neurodevelopmental disabilities. Methods: The American Academy of Pediatrics and the Child Neurology Society conducted an electronic survey in 2015 of child neurologists and neurodevelopmental disabilities specialists. Results: The majority of respondents participate in maintenance of certification, practice in academic medical centers, and offer subspecialty care. EEG reading and epilepsy care are common subspecialty practice areas, although many child neurologists have not had formal training in this field. In keeping with broader trends, medical school debts are substantially higher than in the past and will often take many years to pay off. Although a broad majority would choose these fields again, there are widespread dissatisfactions with compensation and benefits given the length of training and the complexity of care provided, and frustrations with mounting regulatory and administrative stresses that interfere with clinical practice. Conclusions: Although not unique to child neurology and neurodevelopmental disabilities, such issues may present barriers for the recruitment of trainees into these fields. Creative approaches to enhance the recruitment of the next generation of child neurologists and neurodevelopmental disabilities specialists will benefit society, especially in light of all the exciting new treatments under development for an array of chronic childhood neurologic disorders. PMID:27566740

Employment, disability pension and income for children with parental multiple sclerosis

DEFF Research Database (Denmark)

Moberg, Julie Yoon; Laursen, Bjarne; Koch-Henriksen, N.

2017-01-01

BACKGROUND: Little is known about the consequences of parental multiple sclerosis (MS) on offspring's socioeconomic circumstances. OBJECTIVE: To investigate employment, disability pension and income in offspring of parents with MS compared with matched reference persons in a nationwide register......-based cohort study. METHODS: All Danish-born persons with onset of MS during 1950-1986 were retrieved from the Danish Multiple Sclerosis Registry. Their offspring were identified using the Civil Registration System. One random offspring from each sibship was matched by sex and year of birth with eight random...... reference persons. RESULTS: We included 2456 MS offspring and 19,648 reference persons. At age 30, employment was lower among MS offspring than reference children (odds ratio (OR): 0.89; 95% confidence interval (CI): 0.84-0.95; p = 0.0003), and they more often received disability pension (OR: 1.31; 95% CI...

Learning Disabilities and Intellectual Functioning in School-Aged Children With Prenatal Cocaine Exposure

OpenAIRE

Morrow, Connie E.; Culbertson, Jan L.; Accornero, Veronica H.; Xue, Lihua; Anthony, James C.; Bandstra, Emmalee S.

2006-01-01

Risk for developing a learning disability (LD) or impaired intellectual functioning by age 7 was assessed in full-term children with prenatal cocaine exposure drawn from a cohort of 476 children born full term and enrolled prospectively at birth. Intellectual functioning was assessed using the Wechsler Intelligence Scale for Children–Third Edition (Wechsler,1991) shortform, and academic functioning was assessed using the Wechsler Individual Achievement Test (WIAT; Wechsler,1993) Screener by e...

Neuro-developmental outcome at 18 months in premature infants with diffuse excessive high signal intensity on MR imaging of the brain

International Nuclear Information System (INIS)

Hart, Anthony; Whitby, Elspeth; Paley, Martyn; Wilkinson, Stuart; Smith, Michael; Alladi, Sathya

2011-01-01

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.)

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

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 (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

[Tick borne diseases].

Science.gov (United States)

Holzer, B R

2005-11-01

It is known for many years that tick-borne diseases have worldwide a high economical impact on farming industry and veterinary medicine. But only in the last twenty years the importance of such diseases were notified in human medicine by the medical community and the public with emerging of the tick borne encephalitis virus and the description of Borrelia burgdorferi. It is often forgotten that many other infectious agents as bacteria, virus, Rickettsia or protozoa can be transmitted by ticks. Such diseases are rarely diagnosed in Europe either they are overlooked and misdiagnosed or they are connected with special professional activities. The development of new regions for tourism with different out door activities (adventure trips, trekking, hunting) leads to an exposure to different tick borne diseases, which are often misdiagnosed.

Infants born preterm, stress, and neurodevelopment in the neonatal intensive care unit: might music have an impact?

Science.gov (United States)

Anderson, Dane E; Patel, Aniruddh D

2018-03-01

The neonatal intensive care unit (NICU) provides life-saving medical care for an increasing number of newborn infants each year. NICU care, while lifesaving, does have attendant consequences which can include repeated activation of the stress response and reduced maternal interaction, with possible negative long-term impacts on brain development. Here we present a neuroscientific framework for considering the impact of music on neurodevelopment in the NICU of infants born preterm and evaluate current literature on the use of music with this population to determine what is most reliably known of the physiological effects of music interventions. Using online academic databases we collected relevant, experimental studies aimed at determining effects of music listening in infants in the NICU. These articles were evaluated for methodological rigor, ranking the 10 most experimentally stringent as a representative sample. The selected literature seems to indicate that effects are present on the cardio-pulmonary system and behavior of neonates, although the relative effect size remains unclear. These findings indicate a need for more standardized longitudinal studies aimed at determining not only whether NICU music exposure has beneficial effects on the cardio-pulmonary system, but also on the hypothalamic-pituitary-adrenal axis, brain structures, and cognitive behavioral status of these children as well. Provides a neuroscience framework for considering how music might attenuate stress in neonatal intensive care unit (NICU) infants. Considers how repeated stress may cause negative neurodevelopmental impacts in infants born preterm. Posits epigenetics can serve as a mechanistic pathway for music moderating the stress response. © 2018 Mac Keith Press.

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,…

Where was Joseph Babinski born?

Directory of Open Access Journals (Sweden)

H A G Teive

2011-01-01

Full Text Available There is controversy in the neurological literature about where Joseph Babinski was born, including a myth propounded by various important authors that he was born in Lima, Peru. However, according to the most consistent biographical data, he was in fact born in Paris, France, and became a medical celebrity there and in Poland as well as around the world.

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.

Tick-borne disease.

Science.gov (United States)

Bratton, Robert L; Corey, Ralph

2005-06-15

Tick-borne diseases in the United States include Rocky Mountain spotted fever, Lyme disease, ehrlichiosis, tularemia, babesiosis, Colorado tick fever, and relapsing fever. It is important for family physicians to consider these illnesses when patients present with influenza-like symptoms. A petechial rash initially affecting the palms and soles of the feet is associated with Rocky Mountain spotted fever, whereas erythema migrans (annular macule with central clearing) is associated with Lyme disease. Various other rashes or skin lesions accompanied by fever and influenza-like illness also may signal the presence of a tick-borne disease. Early, accurate diagnosis allows treatment that may help prevent significant morbidity and possible mortality. Because 24 to 48 hours of attachment to the host are required for infection to occur, early removal can help prevent disease. Treatment with doxycycline or tetracycline is indicated for Rocky Mountain spotted fever, Lyme disease, ehrlichiosis, and relapsing fever. In patients with clinical findings suggestive of tick-borne disease, treatment should not be delayed for laboratory confirmation. If no symptoms follow exposure to tick bites, empiric treatment is not indicated. The same tick may harbor different infectious pathogens and transmit several with one bite. Advising patients about prevention of tick bites, especially in the summer months, may help prevent exposure to dangerous vector-borne diseases.

Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3

NARCIS (Netherlands)

Kariminejad, Ariana; Nafissi, Shahriar; Nilipoor, Yalda; Tavasoli, Alireza; van Veldhoven, Paul P.; Bonnard, Carine; Ng, Yeng Ting; Majoie, Charles B.; Reversade, Bruno; Hennekam, Raoul C.

2015-01-01

We report on a sister and two brothers born to healthy Iranian parents with mild intellectual disability, progressive muscle weakness, and characteristic facies. including highly arched eyebrows, down-slanting palpebral fissures, prominent nasal bridge, prominent nose, columella extending below alae

Studies of brain and cognitive maturation through childhood and adolescence: a strategy for testing neurodevelopmental hypotheses.

Science.gov (United States)

Luna, B; Sweeney, J A

2001-01-01

Although neurodevelopmental models of schizophrenia are now widely accepted, there is minimal direct human evidence of dysmaturation in schizophrenia to support this theory. This is especially the case regarding maturational changes during late childhood and adolescence, which immediately precede the typical age of onset of the disorder. By integrating new noninvasive methods of functional magnetic resonance imaging with techniques of developmental cognitive neuroscience, it is now possible to begin systematic research programs to directly test hypotheses of neurodevelopmental abnormalities in schizophrenia. In this article, we describe strategies for characterizing developmental changes taking place during the critical period of adolescence that can elucidate dysmaturation processes in schizophrenia. We emphasize the need for studies characterizing normal development before examining at-risk or clinical populations, and the potential value of using neurobehavioral and neuroimaging approaches to directly characterize the dysmaturation associated with schizophrenia.

Economic outcome for intensive care of infants of birthweight 500-999 g born in Victoria in the post surfactant era. The Victorian Infant Collaborative Study Group.

Science.gov (United States)

1997-06-01

To determine the incremental cost of improving the outcome for extremely low birthweight (ELBW, birthweight 500-999 g) infants born in Victoria after the introduction of exogenous surfactant (the post surfactant era). This was a geographically determined cohort study of ELBW children in Victoria, Australia of consecutive livebirths born in three distinct eras: (i) 1979-80 (n = 351); (ii) 1985-87 (n = 560); and (iii) 1991-92 (n = 429). Exogenous surfactant was first used in Victoria in March, 1991. The consumption of nursery resources per livebirth, and the survival and sensorineural disability rates at 2 years of age for each era were investigated. Utilities were assigned as follows: 0 for dead, 0.4 for severe disability, 0.6 for moderate disability, 0.8 for mild disability, and 1 for no disability. Utilities were multiplied for more than one disability. Dollar costs were assumed to be $1470 ($A 1992) per day of assisted ventilation, and one dose of exogenous surfactant was assumed to be equivalent to one third of a day of assisted ventilation. Cost-effectiveness (additional costs per additional survivor or life-year gained) and cost-utility (additional costs per additional quality-adjusted survivor or life-year gained) ratios were calculated for the pre-surfactant era (1985-87 vs 1979-80), and for the post surfactant era (1991-92 vs 1985-87). Considering only the costs incurred during the primary hospitalization, cost-effectiveness and cost-utility ratios were lower (i.e. economically better) in the post surfactant era than in the pre-surfactant era (pre-surfactant vs post surfactant; $7040 vs $4040 per life year gained; $6700 vs $5360 per quality-adjusted life year gained). Both ratios fell with increasing birthweight. In contrast with the pre-surfactant era, cost-utility ratios were less favourable than cost-effectiveness ratios in the post surfactant era. With costs for long-term care of severely disabled children added, both cost ratios were higher in the post

Hypoplastic Left Heart Syndrome is not Associated with Worse Clinical or Neurodevelopmental Outcomes Than Other Cardiac Pathologies After the Norwood-Sano Operation.

Science.gov (United States)

Martin, Billie-Jean; De Villiers Jonker, I; Joffe, Ari R; Bond, Gwen Y; Acton, Bryan V; Ross, David B; Robertson, Charlene M T; Rebeyka, Ivan M; Atallah, Joseph

2017-06-01

There is evidence to suggest that patients undergoing a Norwood for non-HLHS anatomy may have lower mortality than classic HLHS, but differences in neurodevelopmental outcome have not been assessed. Our objective was to compare survival and neurodevelopmental outcome during the same surgical era in a large, well-described cohort. All subjects who underwent a Norwood-Sano operation between 2005 and 2014 were included. Follow-up clinical, neurological, and developmental data were obtained from the Western Canadian Complex Pediatric Therapies Follow-up Program database. Developmental outcomes were assessed at 2 years of age using the Bayley Scales of Infant and Toddler Development (Bayley-III). Survival was assessed using Kaplan-Meier analysis. Baseline characteristics, survival, and neurodevelopmental outcomes were compared between those with HLHS and those with non-HLHS anatomy (non-HLHS). The study comprised 126 infants (75 male), 87 of whom had HLHS. Five-year survival was the same for subjects with HLHS and those with non-HLHS (HLHS 71.8%, non-HLHS 76.9%; p = 0.592). Ninety-three patients underwent neurodevelopmental assessment including Bayley-III scores. The overall mean cognitive composite score was 91.5 (SD 14.6), language score was 86.6 (SD 16.7) and overall mean motor composite score was 85.8 (SD 14.5); being lower than the American normative population mean score of 100 (SD 15) for each (p-value for each comparison,  0.05). In the generalized linear models, dominant right ventricle anatomy (present in 117 (93%) of patients) was predictive of lower language and motor scores. Comparative analysis of the HLHS and non-HLHS groups undergoing single ventricle palliation including a Norwood-Sano, during the same era, showed comparable 2-year survival and neurodevelopmental outcomes.

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.

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 (pneurodevelopmental hypothesis of schizophrenia. PMID:25066026

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.

Neurobiological circuits regulating attention, cognitive control, motivation, and emotion: disruptions in neurodevelopmental psychiatric disorders.

Science.gov (United States)

Arnsten, Amy F T; Rubia, Katya

2012-04-01

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. Studies of animals, normally developing children, and patients with neurodevelopmental disorders were reviewed, with focus on neuroimaging studies. The PFC provides "top-down" regulation of attention, inhibition/cognitive control, motivation, and emotion through connections with posterior cortical and subcortical structures. Dorsolateral and inferior PFC regulate attention and cognitive/inhibitory control, whereas orbital and ventromedial structures regulate motivation and affect. PFC circuitries are very sensitive to their neurochemical environment, and small changes in the underlying neurotransmitter systems, e.g. by medications, can produce large effects on mediated function. Neuroimaging studies of children with neurodevelopmental disorders show altered brain structure and function in distinctive circuits respecting this organization. Children with attention-deficit/hyperactivity disorder show prominent abnormalities in the inferior PFC and its connections to striatal, cerebellar, and parietal regions, whereas children with conduct disorder show alterations in the paralimbic system, comprising ventromedial, lateral orbitofrontal, and superior temporal cortices together with specific underlying limbic regions, regulating motivation and emotion control. Children with major depressive disorder show alterations in ventral orbital and limbic activity, particularly in the left hemisphere, mediating emotions. Finally, children with obsessive-compulsive disorder appear to have a dysregulation in orbito-fronto-striatal inhibitory control pathways, but also deficits in dorsolateral fronto-parietal systems of attention. Altogether, there is a good correspondence

The Arab Community in Israel Coping with Intellectual and Developmental Disability

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Isack Kandel

2004-01-01

Full Text Available The Arab family in Israel is still embedded in the traditional society with extended family support systems, but we see a population in transition influenced by the surrounding society. This paper looks at the different religious attitudes toward the exceptional people in our society (i.e., the family reaction to a child born with intellectual or developmental disability, reviews recent studies on the Arab and Bedouin families in Israel, and presents data on the Arab population in residential care centers.Today, out of 57 residential care centers in Israel for persons with intellectual disability, 13 (22.8% are providing service to the non-Jewish population. The Arab population constitutes 12–13% of the total residential care population, lower than the 19–20% in the total population. In residential care, the Arab population is characterized by younger children with severe and profound intellectual disability. The informal family support system is still a very important factor in the Arab family in Israel, a fact that we believe should be strengthened by implementing the British and Danish model of nurse home visitation.

Employment, disability pension and income for children with parental multiple sclerosis.

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Moberg, Julie Yoon; Laursen, Bjarne; Koch-Henriksen, Nils; Thygesen, Lau Caspar; Brødsgaard, Anne; Soelberg Sørensen, Per; Magyari, Melinda

2017-07-01

Little is known about the consequences of parental multiple sclerosis (MS) on offspring's socioeconomic circumstances. To investigate employment, disability pension and income in offspring of parents with MS compared with matched reference persons in a nationwide register-based cohort study. All Danish-born persons with onset of MS during 1950-1986 were retrieved from the Danish Multiple Sclerosis Registry. Their offspring were identified using the Civil Registration System. One random offspring from each sibship was matched by sex and year of birth with eight random reference persons. We included 2456 MS offspring and 19,648 reference persons. At age 30, employment was lower among MS offspring than reference children (odds ratio (OR): 0.89; 95% confidence interval (CI): 0.84-0.95; p = 0.0003), and they more often received disability pension (OR: 1.31; 95% CI: 1.15-1.50; p pension and low income in adult life.

Delinquency and Recidivism: A Multicohort, Matched-Control Study of the Role of Early Adverse Experiences, Mental Health Problems, and Disabilities

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Barrett, David E.; Katsiyannis, Antonis; Zhang, Dalun; Zhang, Dake

2014-01-01

The authors examined the role of early adverse experiences, mental health problems, and disabilities in the prediction of juvenile delinquency and recidivism, using a matched-control group design. The delinquent group comprised 99,602 youth, born between 1981 and 1988, whose cases had been processed by the South Carolina Department of Juvenile…

Adaptation of the "Ten Questions" to Screen for Autism and other Neurodevelopmental Disorders in Uganda

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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.

2014-01-01

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…

Disability Overview

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... About CDC.gov . Disability & Health Home Disability Overview Disability Inclusion Barriers to Inclusion Inclusion Strategies Inclusion in Programs & Activities Resources Healthy Living Disability & Physical Activity Disability & Obesity Disability & Smoking Disability & Breast ...

Stigma, discrimination, or symptomatology differences in self-reported mental health between US-born and Somalia-born Black Americans.

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Henning-Smith, Carrie; Shippee, Tetyana P; McAlpine, Donna; Hardeman, Rachel; Farah, Farhiya

2013-05-01

We examined differences in self-reported mental health (SRMH) between US-born and Somalia-born Black Americans compared with White Americans. We tested how SRMH was affected by stigma toward seeing a mental health provider, discrimination in the health care setting, or symptoms of depression. Data were from a 2008 survey of adults in Minnesota and were limited to US-born and Somalia-born Black and White Americans (n = 938). Somalia-born adults were more likely to report better SRMH than either US-born Black or White Americans. They also reported lower levels of discrimination (18.6%) than US-born Black Americans (33.4%), higher levels of stigma (23.6% vs 4.7%), and lower levels of depressive symptoms (9.1% vs 31.6%). Controlling for stigma, discrimination, and symptomatology, Somalia-born Black Americans reported better SRMH than White and Black Americans (odds ratio = 4.76). Mental health programming and health care providers who focus on Black Americans' mental health might be missing important sources of heterogeneity. It is essential to consider the role of race and ethnicity, but also of nativity, in mental health policy and programming.

Altered social behaviours in neurexin 1α knockout mice resemble core symptoms in neurodevelopmental disorders.

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Hannah Mary Grayton

Full Text Available BACKGROUND: Copy number variants have emerged as an important genomic cause of common, complex neurodevelopmental disorders. These usually change copy number of multiple genes, but deletions at 2p16.3, which have been associated with autism, schizophrenia and mental retardation, affect only the neurexin 1 gene, usually the alpha isoform. Previous analyses of neurexin 1α (Nrxn1α knockout (KO mouse as a model of these disorders have revealed impairments in synaptic transmission but failed to reveal defects in social behaviour, one of the core symptoms of autism. METHODS: We performed a detailed investigation of the behavioural effects of Nrxn1α deletion in mice bred onto a pure genetic background (C57BL/6J to gain a better understanding of its role in neurodevelopmental disorders. Wildtype, heterozygote and homozygote Nrxn1α KO male and female mice were tested in a battery of behavioural tests (n = 9-16 per genotype, per sex. RESULTS: In homozygous Nrxn1α KO mice, we observed altered social approach, reduced social investigation, and reduced locomotor activity in novel environments. In addition, male Nrxn1α KO mice demonstrated an increase in aggressive behaviours. CONCLUSIONS: These are the first experimental data that associate a deletion of Nrxn1α with alterations of social behaviour in mice. Since this represents one of the core symptom domains affected in autism spectrum disorders and schizophrenia in humans, our findings suggest that deletions within NRXN1 found in patients may be responsible for the impairments seen in social behaviours, and that the Nrxn1α KO mice are a useful model of human neurodevelopmental disorder.

Altered Social Behaviours in Neurexin 1α Knockout Mice Resemble Core Symptoms in Neurodevelopmental Disorders

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Grayton, Hannah Mary; Missler, Markus

2013-01-01

Background Copy number variants have emerged as an important genomic cause of common, complex neurodevelopmental disorders. These usually change copy number of multiple genes, but deletions at 2p16.3, which have been associated with autism, schizophrenia and mental retardation, affect only the neurexin 1 gene, usually the alpha isoform. Previous analyses of neurexin 1α (Nrxn1α) knockout (KO) mouse as a model of these disorders have revealed impairments in synaptic transmission but failed to reveal defects in social behaviour, one of the core symptoms of autism. Methods We performed a detailed investigation of the behavioural effects of Nrxn1α deletion in mice bred onto a pure genetic background (C57BL/6J) to gain a better understanding of its role in neurodevelopmental disorders. Wildtype, heterozygote and homozygote Nrxn1α KO male and female mice were tested in a battery of behavioural tests (n = 9–16 per genotype, per sex). Results In homozygous Nrxn1α KO mice, we observed altered social approach, reduced social investigation, and reduced locomotor activity in novel environments. In addition, male Nrxn1α KO mice demonstrated an increase in aggressive behaviours. Conclusions These are the first experimental data that associate a deletion of Nrxn1α with alterations of social behaviour in mice. Since this represents one of the core symptom domains affected in autism spectrum disorders and schizophrenia in humans, our findings suggest that deletions within NRXN1 found in patients may be responsible for the impairments seen in social behaviours, and that the Nrxn1α KO mice are a useful model of human neurodevelopmental disorder. PMID:23840597

Born Too Soon: Care for the preterm baby

Science.gov (United States)

2013-01-01

As part of a supplement entitled "Born Too Soon", this paper focuses on care of the preterm newborn. An estimated 15 million babies are born preterm, and the survival gap between those born in high and low income countries is widening, with one million deaths a year due to direct complications of preterm birth, and around one million more where preterm birth is a risk factor, especially amongst those who are also growth restricted. Most premature babies (>80%) are between 32 and 37 weeks of gestation, and many die needlessly for lack of simple care. We outline a series of packages of care that build on essential care for every newborn comprising support for immediate and exclusive breastfeeding, thermal care, and hygienic cord and skin care. For babies who do not breathe at birth, rapid neonatal resuscitation is crucial. Extra care for small babies, including Kangaroo Mother Care, and feeding support, can halve mortality in babies weighing Neonatal intensive care units in high income settings are de-intensifying care, for example increasing use of continuous positive airway pressure (CPAP) and this makes comprehensive preterm care more transferable. For health systems in low and middle income settings with increasing facility births, district hospitals are the key frontier for improving obstetric and neonatal care, and some large scale programmes now include specific newborn care strategies. However there are still around 50 million births outside facilities, hence home visits for mothers and newborns, as well as women's groups are crucial for reaching these families, often the poorest. A fundamental challenge is improving programmatic tracking data for coverage and quality, and measuring disability-free survival. The power of parent's voices has been important in high-income countries in bringing attention to preterm newborns, but is still missing from the most affected countries. Declaration This article is part of a supplement jointly funded by Save the Children

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

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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

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

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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.

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

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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.

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...... by occupational health researchers and practitioners from the need to protect pregnant workers. Due to the vulnerability of the brain during early development, a precautionary approach to neurodevelopmental toxicity needs to be applied in occupational health....

Disability impact and coping in mothers of children with intellectual disabilities and multiple disabilities.

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Kishore, M Thomas

2011-12-01

Understanding the disability impact on parenting and caregiving is important for intervention. The present study was designed to understand the differences in perceived disability impact and related coping in mothers having children with intellectual disabilities alone compared to those having children with intellectual disabilities and additional disabilities. Accordingly, 30 mothers of children with intellectual disabilities and 30 mothers of children with intellectual and additional disabilities were assessed for disability impact and coping. Group differences for disability impact were present in specific domains but not overall. Despite variations in coping pattern, both positive and negative coping strategies were observed in both groups. The results may imply that the impact of intellectual disability is so pervasive that except in certain domains mothers may not perceive the further impact of additional disabilities. Positive coping does not rule out negative coping strategies. These findings have specific relevance to service delivery in a cultural context.

Smaller Cerebellar Growth and Poorer Neurodevelopmental Outcomes in Very Preterm Infants Exposed to Neonatal Morphine.

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Zwicker, Jill G; Miller, Steven P; Grunau, Ruth E; Chau, Vann; Brant, Rollin; Studholme, Colin; Liu, Mengyuan; Synnes, Anne; Poskitt, Kenneth J; Stiver, Mikaela L; Tam, Emily W Y

2016-05-01

To examine the relationship between morphine exposure and growth of the cerebellum and cerebrum in very preterm neonates from early in life to term-equivalent age, as well as to examine morphine exposure and brain volumes in relation to neurodevelopmental outcomes at 18 months corrected age (CA). A prospective cohort of 136 very preterm neonates (24-32 weeks gestational age) was serially scanned with magnetic resonance imaging near birth and at term-equivalent age for volumetric measurements of the cerebellum and cerebrum. Motor outcomes were assessed with the Peabody Developmental Motor Scales, Second Edition and cognitive outcomes with the Bayley Scales of Infant and Toddler Development, Third Edition at 18 months CA. Generalized least squares models and linear regression models were used to assess relationships between morphine exposure, brain volumes, and neurodevelopmental outcomes. A 10-fold increase in morphine exposure was associated with a 5.5% decrease in cerebellar volume, after adjustment for multiple clinical confounders and total brain volume (P = .04). When infants exposed to glucocorticoids were excluded, the association of morphine was more pronounced, with an 8.1% decrease in cerebellar volume. Morphine exposure was not associated with cerebral volume (P = .30). Greater morphine exposure also predicted poorer motor (P growth. Morphine exposure in very preterm neonates is independently associated with impaired cerebellar growth in the neonatal period and poorer neurodevelopmental outcomes in early childhood. Alternatives to better manage pain in preterm neonates that optimize brain development and functional outcomes are urgently needed. Copyright © 2016 Elsevier Inc. All rights reserved.

Young adult outcomes of children born to teen mothers: effects of being born during their teen or later years.

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Lipman, Ellen L; Georgiades, Katholiki; Boyle, Michael H

2011-03-01

Children of teen mothers exhibit adverse outcomes through adolescence. It is unclear whether these adverse outcomes extend to adulthood and apply to all of her children, or only those born when she was a teen. We examine the associations between young adult functioning and being born to a teen mother aged ≤20 years at the time of birth (current teen), and being born to a teen mother later in her life (>21 years, prior teen). The 1983 Ontario Child Health Study (OCHS) and 2001 follow-up are used, including 2,355 participants 4 to 16 years old in 1983 with 2001 data. Using multilevel modeling we assessed the association between being born to a current versus prior teen mother, relative to a nonteen mother, and 2001 outcomes, controlling for individual and family level characteristics assessed in childhood. Being born to a teen mother (versus a nonteen mother) is associated with poorer educational achievement, life satisfaction, and personal income. Accounting for time of sample children's birth in teen mothers' lives, individuals born to current and prior teen mothers showed a ~0.8-year educational deficit, relative to individuals born to nonteen mothers in fully adjusted models. Individuals born to current teen mothers reported lower life satisfaction and personal income (-$7,262). There were no significant group differences at follow-up in mental or physical health between individuals born to nonteen mothers and those born to current or prior teen mothers. Although being born to a teen mother exerts a pervasive adverse effect on educational attainment, the adverse effects on life satisfaction and personal income appear to be selective for individuals born to a current teen mother. Further research is required to understand these differential effects. Copyright © 2011 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.

Home-based, early intervention with mechatronic toys for preterm infants at risk of neurodevelopmental disorders (CARETOY): a RCT protocol.

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Sgandurra, Giuseppina; Bartalena, Laura; Cioni, Giovanni; Greisen, Gorm; Herskind, Anna; Inguaggiato, Emanuela; Lorentzen, Jakob; Nielsen, Jens Bo; Sicola, Elisa

2014-10-15

Preterm infants are at risk for neurodevelopmental disorders, including motor, cognitive or behavioural problems, which may potentially be modified by early intervention. The EU CareToy Project Consortium (http://www.caretoy.eu) has developed a new modular system for intensive, individualized, home-based and family-centred early intervention, managed remotely by rehabilitation staff. A randomised controlled trial (RCT) has been designed to evaluate the efficacy of CareToy training in a first sample of low-risk preterm infants. The trial, randomised, multi-center, evaluator-blinded, parallel group controlled, is designed according to CONSORT Statement. Eligible subjects are infants born preterm without major complications, aged 3-9 months of corrected age with specific gross-motor abilities defined by Ages & Stages Questionnaire scores. Recruited infants, whose parents will sign a written informed consent for participation, will be randomized in CareToy training and control groups at baseline (T0). CareToy group will perform four weeks of personalized activities with the CareToy system, customized by the rehabilitation staff. The control group will continue standard care. Infant Motor Profile Scale is the primary outcome measure and a total sample size of 40 infants has been established. Bayley-Cognitive subscale, Alberta Infants Motor Scale and Teller Acuity Cards are secondary outcome measures. All measurements will be performed at T0 and at the end of training/control period (T1). For ethical reasons, after this first phase infants enrolled in the control group will perform the CareToy training, while the training group will continue standard care. At the end of open phase (T2) all infants will be assessed as at T1. Further assessment will be performed at 18 months corrected age (T3) to evaluate the long-term effects on neurodevelopmental outcome. Caregivers and rehabilitation staff will not be blinded whereas all the clinical assessments will be performed

Prostate Cancer Prognostic Factors Among Asian Patients Born in the US Compared to Those Born Abroad.

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Xu, Junjun; Goodman, Michael; Jemal, Ahemdin; Fedewa, Stacey A

2015-06-01

US surveillance data indicate that incidence of prostate cancer differs by place of birth among Asian men. However, it is less clear if the prognostic factors for prostate cancer also differ by place of birth. The study included 7,824 Asian prostate cancer patients diagnosed between 2004 and 2009 and reported to the Surveillance Epidemiology and End Results (SEER) program. Logistic regression models were used to evaluate the relation of place of birth (foreign born vs. US born) to three outcomes: prostate specific antigen (PSA) level, Gleason score, and T classification, adjusting for age, marital status, Rural-Urban Continuum Code, and SEER registry. All outcome variables were binary using different cutoffs: ≥ 4, ≥ 10 and ≥ 20 ng/ml for PSA; ≥ 7 and ≥ 8 for Gleason score; and ≥ T2 and ≥ T3 for T classification. Elevated PSA was more common among foreign born Asian men regardless of the cut point used. In the analysis comparing foreign born versus US born patients by ethnic group, the association with PSA was most pronounced at cut point of ≥ 20 ng/ml for Chinese men (OR 1.68, 95% CI 1.02-2.75), and at cut point of ≥ 4 ng/ml for Japanese men (OR 2.73, 95% CI 1.20-6.21). A statistically significant association with Gleason score was only found for Japanese men and only for the cutoff ≥ 7 (OR 1.71, 95% CI 1.12-2.61). There was no difference in clinical T classification between foreign-born and US-born Asian men. Inclusion of cases with missing place of birth or restriction of data to those who underwent radical prostatectomy did not substantially change the results. The data suggest that foreign-born Asian prostate cancer patients may have moderately elevated PSA levels at diagnosis compared with their US born counterparts. For the other prognostic markers, the associations were less consistent and did not form a discernible pattern.

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.

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

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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.

The Role of Senior High School Experiences in Shaping a Life Project Linked to Higher Education for Students With Disabilities

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Rodolfo Cruz-Vadillo

2016-05-01

Full Text Available This article aims to approach the school experiences of 13 students with disabilities. It corresponds to a cross, synchronous and non experimental study, whose scope is mainly descriptive. The data collection was carried out through a semi-structured interview and transcribed from audio recordings to make a category analysis. The main results showed that in the case of students who were born with disabilities, the fact that an institution was inclusive turned out essential for them to have adequate transit through the educational system and thus become apt for higher education. The combination disability-inclusion-right to education-higher education is what this paper aimed to weave, trying to follow as thread or anchor, the previous school experiences of students with disabilities. We recognize that an adequate, inclusive, positive experience besides a subjective construction of the body and disability by family members, become important conditions to access schooling. Education is a right, therefore it can not be seen as an act of charity; it should be required as a quality practice.

Isolated neurodevelopmental delay in childhood: clinicoradiological correlation in 170 patients

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Demaerel, P. (Department of Neuroradiology, Hospital for Sick Children, London (United Kingdom)); Kingsley, D.P.E. (Department of Neuroradiology, Hospital for Sick Children, London (United Kingdom)); Kendall, B.E. (Department of Neuroradiology, Hospital for Sick Children, London (United Kingdom))

1993-03-01

CT findings on 170 patients presenting with isolated moderate to severe neurodevelopmental delay have been compared with the final diagnosis. MRI was undertaken in 29 patients. Eighty per cent of the patients remained undiagnosed, and although the MRI findings were abnormal in 65.5% compared with only 30% of the CT examinations, imaging uncommonly suggested a specific diagnosis. Biochemical and chromosomal investigations were significantly more diagnostic. The results of these studies should restrict the number of non-contributory neuroradiological examinations. The superior intrinsic contrast of MRI will detect more lesions, particularly in white matter, but these are rarely diagnostic and where access to MRI is limited, CT is usually adequate. (orig.)

Isolated neurodevelopmental delay in childhood: clinicoradiological correlation in 170 patients

International Nuclear Information System (INIS)

Demaerel, P.; Kingsley, D.P.E.; Kendall, B.E.

1993-01-01

CT findings on 170 patients presenting with isolated moderate to severe neurodevelopmental delay have been compared with the final diagnosis. MRI was undertaken in 29 patients. Eighty per cent of the patients remained undiagnosed, and although the MRI findings were abnormal in 65.5% compared with only 30% of the CT examinations, imaging uncommonly suggested a specific diagnosis. Biochemical and chromosomal investigations were significantly more diagnostic. The results of these studies should restrict the number of non-contributory neuroradiological examinations. The superior intrinsic contrast of MRI will detect more lesions, particularly in white matter, but these are rarely diagnostic and where access to MRI is limited, CT is usually adequate. (orig.)

Structure-borne noise at hotels

Science.gov (United States)

Wilson, George Paul; Jue, Deborah A.

2002-11-01

Hotels present a challenging environment for building designers to provide suitable noise and vibration isolation between very incompatible uses. While many are familiar with ways to reduce traditional sources of airborne noise and vibration, structure-borne noise and vibration are often overlooked, often with costly repercussions. Structure-borne noise can be very difficult to pinpoint, and troubleshooting the sources of the vibration can be a tedious process. Therefore, the best approach is to avoid the problem altogether during design, with attention to the building construction, potential vibration sources, building uses and equipment locations. In this paper, the relationship between structure-borne vibration and noise are reviewed, typical vibration sources discussed (e.g., aerobic rooms, laundry rooms, mechanical equipment/building services, and subway rail transit), and key details and design guidance to minimize structure-borne noise provided.

Long-term follow-up of mental health, health-related quality of life and associations with motor skills in young adults born preterm with very low birth weight.

Science.gov (United States)

Husby, Ingrid Marie; Stray, Kaia Mølbach-Thellefsen; Olsen, Alexander; Lydersen, Stian; Indredavik, Marit Sæbø; Brubakk, Ann-Mari; Skranes, Jon; Evensen, Kari Anne I

2016-04-07

Being born with very low birth weight (VLBW: ≤ 1,500 g) is related to long-term disability and neurodevelopmental problems, possibly affecting mental health and health-related quality of life (HRQoL). However, studies in young adulthood yield mixed findings. The aim of this study was to examine mental health and HRQoL at 23 years, including changes from 20 to 23 years and associations with motor skills in VLBW young adults compared with controls. In a geographically based follow-up study, 35 VLBW and 37 term-born young adults were assessed at 23 years by using Achenbach Adult Self-Report (ASR), Short Form 36 Health Survey (SF-36), Beck Depression Inventory (BDI) and various motor tests. The ASR and SF-36 were also used at 20 years. Longitudinal changes in ASR and SF-36 from 20 to 23 years were analysed by linear mixed models and associations with motor skills at 23 years by linear regression. At 23 years, total ASR score was 38.6 (SD: 21.7) in the VLBW group compared with 29.0 (SD: 18.6) in the control group (p = 0.048). VLBW participants had higher scores for attention problems, internalizing problems and critical items, and they reported to drink less alcohol than controls. BDI total score did not differ between groups. On SF-36, VLBW participants reported significantly poorer physical and social functioning, more role-limitations due to physical and emotional problems, more bodily pain and lower physical and mental component summaries than controls. In the VLBW group, total ASR score increased by 9.0 (95 % CI: 3.3 to 14.7) points from 20 to 23 years (p = 0.009 vs controls), physical and mental component summaries of SF-36 decreased by 2.9 (95 % CI: -4.8 to -1.1) and 4.4 (95 % CI: -7.1 to -1.7) points, respectively (p = 0.012 and p = 0.022 vs controls). Among VLBW participants, more mental health problems and lower physical and mental HRQoL were associated with poorer motor skills at 23 years. VLBW young adults reported poorer and declining

Born : vastutustundlikud tulevikus edukad / Kerstin Born ; interv. Kristo Kiviorg

Index Scriptorium Estoniae

Born, Kerstin

2007-01-01

Vastutustundliku ettevõtluse Euroopa organisatsiooni CSR Europe'i juht Kerstin Born vastab küsimustele ettevõtete vastutustundlikkuse kohta ühiskonnas. Vt. samas: Käivitus vastutustundliku ettevõtluse indeks

[Climate- and vector-borne diseases

DEFF Research Database (Denmark)

Bygbjerg, I.C.; Schioler, K.L.; Konradsen, F.

2009-01-01

The predicted changes in climate have raised concerns that vector-borne diseases may emerge or expand in tempered regions. Malaria, leishmaniasis and tick-borne illnesses are discussed in terms of climate change and their endemic potential, especially in Denmark. While climate may play an important...... role in disease patterns, it is evident that transmission potential is governed by a complex of factors, including socio-economy, health-care capacity and ecology. In Denmark, malaria and leishmaniasis are unlikely to become public health problems, whereas the potential for tick-borne illnesses may...

Prevalence of Hepatitis B Surface Antigen in US-Born and Foreign-Born Asian/Pacific Islander College Students

Science.gov (United States)

Quang, Yen N.; Vu, Joanne; Yuk, Jihey; Li, Chin-Shang; Chen, Moon; Bowlus, Christopher L.

2010-01-01

The prevalence of chronic hepatitis B (HBV) among college-age US-born Asian and Pacific Islanders (A/PI) is not well known. Objectives: To compare the prevalence of hepatitis B surface antigen (HBsAg) seropositivity in US-born to A/PI-born students at a public university. Participants: Undergraduate who self-identified themselves as A/PI. Results:…

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

Science.gov (United States)

Dichter, Gabriel S; Damiano, Cara A; Allen, John A

2012-07-06

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.

Learning and memory disabilities in IUGR babies: Functional and molecular analysis in a rat model.

Science.gov (United States)

Camprubí Camprubí, Marta; Balada Caballé, Rafel; Ortega Cano, Juan A; Ortega de la Torre, Maria de Los Angeles; Duran Fernández-Feijoo, Cristina; Girabent-Farrés, Montserrat; Figueras-Aloy, Josep; Krauel, Xavier; Alcántara, Soledad

2017-03-01

1Intrauterine growth restriction (IUGR) is the failure of the fetus to achieve its inherent growth potential, and it has frequently been associated with neurodevelopmental problems in childhood. Neurological disorders are mostly associated with IUGR babies with an abnormally high cephalization index (CI) and a brain sparing effect. However, a similar correlation has never been demonstrated in an animal model. The aim of this study was to determine the correlations between CI, functional deficits in learning and memory and alterations in synaptic proteins in a rat model of IUGR. 2Utero-placental insufficiency was induced by meso-ovarian vessel cauterization (CMO) in pregnant rats at embryonic day 17 (E17). Learning performance in an aquatic learning test was evaluated 25 days after birth and during 10 days. Some synaptic proteins were analyzed (PSD95, Synaptophysin) by Western blot and immunohistochemistry. 3Placental insufficiency in CMO pups was associated with spatial memory deficits, which are correlated with a CI above the normal range. CMO pups presented altered levels of synaptic proteins PSD95 and synaptophysin in the hippocampus. 4The results of this study suggest that learning disabilities may be associated with altered development of excitatory neurotransmission and synaptic plasticity. Although interspecific differences in fetal response to placental insufficiency should be taken into account, the translation of these data to humans suggest that both IUGR babies and babies with a normal birth weight but with intrauterine Doppler alterations and abnormal CI should be closely followed to detect neurodevelopmental alterations during the postnatal period.

Foreign-born Peers and Academic Performance.

Science.gov (United States)

Conger, Dylan

2015-04-01

The academic performance of foreign-born youth in the United States is well studied, yet little is known about whether and how foreign-born students influence their classmates. In this article, I develop a set of expectations regarding the potential consequences of immigrant integration across schools, with a distinction between the effects of sharing schools with immigrants who are designated as English language learners (ELL) and those who are not. I then use administrative data on multiple cohorts of Florida public high school students to estimate the effect of immigrant shares on immigrant and native-born students' academic performance. The identification strategy pays careful attention to the selection problem by estimating the effect of foreign-born peers from deviations in the share foreign-born across cohorts of students attending the same school in different years. The assumption underlying this approach is that students choose schools based on the composition of the entire school, not on the composition of each entering cohort. The results of the analysis, which hold under several robustness checks, indicate that foreign-born peers (both those who are ELL and those who are non-ELL) have no effect on their high school classmates' academic performance.

Offending Behavior, Drug Use, and Mental Health Among Foreign-Born versus U.S. Born Latino Criminal Justice Clients.

Science.gov (United States)

Ibañez, Gladys E; Agudo, Michelle; Martin, Steve S; O'Connell, Daniel J; Auf, Rehab; Sheehan, Diana M

2017-06-01

Little is known about the offending behavior and recidivism factors of Latinos by nativity (U.S. born, foreign-born). The present study focused on Latinos in community corrections (n = 201) in Miami, Florida, and examined differences in criminal activity, drug use, and mental health by nativity. Data were collected utilizing convenience sampling between June 2014 and December 2015. The research question was: what are the offending, drug use, and mental health histories of Latinos involved in community corrections? Participants were mostly male (n = 120; 59.7%), White (n = 105; 52.2%), and Cuban (n = 97; 48.3%). U.S. born community corrections clients (n = 141) were more likely to report more lifetime and recent criminal activity; and more likely to report lifetime and recent drug use behavior than foreign-born Latinos (n = 60). No differences were found in recent mental health. Correctional healthcare should tailor services such as substance abuse treatment differently toward U.S. born and foreign-born Latinos.

Altered Amygdala Development and Fear Processing in Prematurely Born Infants

Science.gov (United States)

Cismaru, Anca Liliana; Gui, Laura; Vasung, Lana; Lejeune, Fleur; Barisnikov, Koviljka; Truttmann, Anita; Borradori Tolsa, Cristina; Hüppi, Petra S.

2016-01-01

Context: Prematurely born children have a high risk of developmental and behavioral disabilities. Cerebral abnormalities at term age have been clearly linked with later behavior alterations, but existing studies did not focus on the amygdala. Moreover, studies of early amygdala development after premature birth in humans are scarce. Objective: To compare amygdala volumes in very preterm infants at term equivalent age (TEA) and term born infants, and to relate premature infants’ amygdala volumes with their performance on the Laboratory Temperament Assessment Battery (Lab-TAB) fear episode at 12 months. Participants: Eighty one infants born between 2008 and 2014 at the University Hospitals of Geneva and Lausanne, taking part in longitudinal and functional imaging studies, who had undergone a magnetic resonance imaging (MRI) scan at TEA enabling manual amygdala delineation. Outcomes: Amygdala volumes assessed by manual segmentation of MRI scans; volumes of cortical and subcortical gray matter, white matter and cerebrospinal fluid (CSF) automatically segmented in 66 infants; scores for the Lab-TAB fear episode for 42 premature infants at 12 months. Results: Amygdala volumes were smaller in preterm infants at TEA than term infants (mean difference 138.03 mm3, p amygdala volumes were larger than left amygdala volumes (mean difference 36.88 mm3, p Amygdala volumes showed significant correlation with the intensity of the escape response to a fearsome toy (rs = 0.38, p = 0.013), and were larger in infants showing an escape response compared to the infants showing no escape response (mean difference 120.97 mm3, p = 0.005). Amygdala volumes were not significantly correlated with the intensity of facial fear, distress vocalizations, bodily fear and positive motor activity in the fear episode. Conclusion: Our results indicate that premature birth is associated with a reduction in amygdala volumes and white matter volumes at TEA, suggesting that altered amygdala development

Three-dimensional prospective evaluation of tooth-borne and bone-borne surgically assisted rapid maxillary expansion

NARCIS (Netherlands)

Nada, R.M.; Fudalej, P.S.; Maal, T.J.J.; Berge, S.J.; Mostafa, Y.A.; Kuijpers-Jagtman, A.M.

2012-01-01

AIM: To three-dimensionally (3D) assess the long-term effects of tooth-borne and bone-borne surgically assisted rapid maxillary expansion (SARME). SUBJECTS AND METHODS: This prospective cohort study comprised 45 consecutive skeletally mature non-syndromic patients with transverse maxillary

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.

The impact of prenatal and neonatal infection on neurodevelopmental outcomes in very preterm infants

OpenAIRE

Lee, Iris; Neil, Jeffrey J.; Huettner, Phyllis C.; Smyser, Christopher D.; Rogers, Cynthia E.; Shimony, Joshua S.; Kidokoro, Hiroyuki; Mysorekar, Indira U.; Inder, Terrie E.

2014-01-01

Objective Determine the association of prenatal and neonatal infections with neurodevelopmental outcomes in very preterm infants. Study Design Secondary retrospective analysis of 155 very preterm infants at a single tertiary referral center. General linear or logistic regression models were used to evaluate the association with hospital factors; brain injury, growth, and development; and neurobehavioral outcome. Result Necrotizing enterocolitis with sepsis was associated with reduced transcer...

Non-abelian Born-Infeld revisited

NARCIS (Netherlands)

Roo, M. de

2002-01-01

We discuss the non-abelian Born-Infeld action, including fermions, as a series in α'. We review recent work establishing the complete result to α'2, and its impact on our earlier attempts to derive the Born-Infeld action using κ-symmetry.

[Climate- and vector-borne diseases

DEFF Research Database (Denmark)

Bygbjerg, I.C.; Schioler, K.L.; Konradsen, F.

2009-01-01

The predicted changes in climate have raised concerns that vector-borne diseases may emerge or expand in tempered regions. Malaria, leishmaniasis and tick-borne illnesses are discussed in terms of climate change and their endemic potential, especially in Denmark. While climate may play an important...

The wild life of tick-borne pathogens

OpenAIRE

Hofmeester, Tim R.

2016-01-01

Diseases that are transmitted by arthropod vectors from animal hosts to humans – so called zoonotic vector-borne diseases – have increased in incidence in the last decades. In North America and Europe, tick-borne pathogens cause the majority of vector-borne diseases, including Lyme borreliosis and tick-borne encephalitis. The pathogens causing these diseases are transmitted by tick species within the Ixodes ricinus complex. These are generalist ticks that have a multi-year lifecycle with thre...

Conceptualizing Innovation in Born Global Firms

DEFF Research Database (Denmark)

Zijdemans, Erik; Tanev, Stoyan

2014-01-01

This research provides insights from recent literature on innovativeness in the environment of born globals. This article will be relevant to researchers interested in born globals and their business environments and, more specifically, the role that innovation plays in their foundation and devel...... of knowledge acquisition, networking capabilities and the lean startup approach in born global innovation. Finally, the article addresses the issue of quantifying and measuring innovativeness....

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism

Science.gov (United States)

Lüdecke, H.-J.; Pettersson, M.; Albrecht, B.; Bernier, R. A.; Cremer, K.; Eichler, E. E.; Falkenstein, D.; Gerdts, J.; Jansen, S.; Kuechler, A.; Kvarnung, M.; Lindstrand, A.; Nilsson, D.; Nordgren, A.; Pfundt, R.; Spruijt, L.; Surowy, H. M.; de Vries, B. B. A.; Wieland, T.; Engels, H.; Strom, T. M.; Kleefstra, T.; Wieczorek, D.

2018-01-01

The ubiquitin pathway is an enzymatic cascade including activating E1, conjugating E2, and ligating E3 enzymes, which governs protein degradation and sorting. It is crucial for many physiological processes. Compromised function of members of the ubiquitin pathway leads to a wide range of human diseases, such as cancer, neurodegenerative diseases, and neurodevelopmental disorders. Mutations in the thyroid hormone receptor interactor 12 (TRIP12) gene (OMIM 604506), which encodes an E3 ligase in the ubiquitin pathway, have been associated with autism spectrum disorder (ASD). In addition to autistic features, TRIP12 mutation carriers showed intellectual disability (ID). More recently, TRIP12 was postulated as a novel candidate gene for intellectual disability in a meta-analysis of published ID cohorts. However, detailed clinical information characterizing the phenotype of these individuals was not provided. In this study, we present seven novel individuals with private TRIP12 mutations including two splice site mutations, one nonsense mutation, three missense mutations, and one translocation case with a breakpoint in intron 1 of the TRIP12 gene and clinically review four previously published cases. The TRIP12 mutation-positive individuals presented with mild to moderate ID (10/11) or learning disability [intelligence quotient (IQ) 76 in one individual], ASD (8/11) and some of them with unspecific craniofacial dysmorphism and other anomalies. In this study, we provide detailed clinical information of 11 TRIP12 mutation-positive individuals and thereby expand the clinical spectrum of the TRIP12 gene in non-syndromic intellectual disability with or without ASD. PMID:27848077

Congenital hypothyroidism: insights into pathogenesis and treatment

OpenAIRE

Cherella, Christine E.; Wassner, Ari J.

2017-01-01

Congenital hypothyroidism occurs in approximately 1 in 2000 newborns and can have devastating neurodevelopmental consequences if not detected and treated promptly. While newborn screening has virtually eradicated intellectual disability due to severe congenital hypothyroidism in the developed world, more stringent screening strategies have resulted in increased detection of mild congenital hypothyroidism. Recent studies provide conflicting evidence about the potential neurodevelopmental risks...

The wild life of tick-borne pathogens

NARCIS (Netherlands)

Hofmeester, Tim R.

2016-01-01

Diseases that are transmitted by arthropod vectors from animal hosts to humans – so called zoonotic vector-borne diseases – have increased in incidence in the last decades. In North America and Europe, tick-borne pathogens cause the majority of vector-borne diseases, including Lyme borreliosis

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.

Factors Associated With Participation and Change Over Time in Domestic Life, Peer Relations, and School for Adolescents With and Without Self-Reported Neurodevelopmental Disorders. A Follow-Up Prospective Study

Directory of Open Access Journals (Sweden)

Frida Lygnegård

2018-04-01

Full Text Available Even though participation in everyday events is a vital part in the fulfillment of human rights, adolescents with neurodevelopmental disorders (NDD often face participation restrictions in every-day activities. Few studies have investigated the predictors for participation in different contexts, over time and in relation to the same outcome variables.Objective: Objective of the current study was therefore to investigate predictors of change in participation operationalized as frequency of attendance and perceived importance in domestic life activities, peer related activities, and school activities as experienced by adolescents with and without self-reported neurodevelopmental disorders.Method: Associations with participation, both in terms of frequency and perceived importance, in domestic life, peer relations, and the school setting were investigated using six independent variables measuring experience of time and self, sex, age, stress, support from siblings, and atmosphere in family at two-time (with ~2 years in between. The sample consisted of adolescents with and without self-reported NDD (n = 916. Adolescents with self-reported NDD were n = 154 and adolescents without self-reported NDD was n = 762. Data was collected via self-reported questionnaires administered in schools.Results: Three key findings are presented. (1 more factors were associated with participation outcomes at time1 for adolescents without NDD than for adolescents with NDD, but this difference in the number of factors decreases with time; (2 few associations were related to time for both adolescents with and without NDD; and (3 patterns of predicting variables were different for adolescents with and without NDD.Conclusion: The findings indicate that the factors related to participation in and outside school differs between groups, when the impairment or disability is not considered as a predictor for participation. This study supports the need for using a multidimensional

Birth weight and postnatal growth in preterm born children are associated with cortisol in early infancy, but not at age 8 years.

Science.gov (United States)

Ruys, Charlotte A; van der Voorn, Bibian; Lafeber, Harrie N; van de Lagemaat, Monique; Rotteveel, Joost; Finken, Martijn J J

2017-08-01

Preterm birth has been associated with altered hypothalamic-pituitary-adrenal (HPA-) axis activity as well as cardiometabolic diseases and neurodevelopmental impairments later in life. We assessed cortisol from term age to age 8 y in children born preterm, to explore the development of HPA-axis activity in association with intrauterine and early-postnatal growth until 6 mo. corrected age. In 152 children born at a gestational age ≤32 wks. and/or with a birth weight ≤1,500g, random serum cortisol was assessed at term age (n=150), 3 mo. (n=145) and 6 mo. corrected age (n=144), and age 8 y (n=59). Salivary cortisol was assessed at age 8 y (n=75): prior to bedtime, at awakening, 15min after awakening, and before lunch. Cortisol was analyzed in association with birth weight-standard deviation score (SDS), being born small for gestational age (SGA), and combinations of intrauterine and postnatal growth: appropriate for gestational age (AGA) with or without growth restriction (AGA GR+ or AGA GR-) at 6 mo. corrected age, and SGA with or without catch-up growth (SGA CUG+ or SGA CUG-) at 6 mo. corrected age. Cross-sectional associations at all time points were analyzed using linear regression, and longitudinal associations were analyzed using generalized estimating equations. Longitudinally, birth weight-SDS was associated with cortisol (β [95%CI]): lower cortisol over time was seen in infants with a birth weight ≤-2 SDS (-50.69 [-94.27; -7.11], p=0.02), infants born SGA (-29.70 [-60.58; 1.19], p=0.06), AGA GR+ infants (-55.10 [-106.02; -4.17], p=0.03) and SGA CUG- infants (-61.91 [-104.73; -19.10], p=0.01). In cross-sectional analyses at age 8 y, no associations were found between either serum or salivary cortisol and birth weight-SDS, SGA-status, or growth from birth to 6 mo. corrected age. In children born preterm, poor intrauterine and postnatal growth were associated with lower cortisol in early infancy, but not at age 8 y. Even though HPA-axis activity no longer

Comparison of Body Image between Disabled Athletes, Disabled Non-Athletes and Non-Disable Non-Athletes Males

Directory of Open Access Journals (Sweden)

Abdollah Ghasemi

2010-01-01

Full Text Available Objective: The aim of this research was to compare the body image between disabled athletes with disabled and non-disabled non- athletes. Materials & Methods: In this cross sectional and comparative study, fifty disabled athletes from the handicapped sports club, fifty disabled non athletes from Kahrizak disabled rest house and fifty non athlete healthy persons from governmental administrations were selected randomly by classified clustered method and their body image were compared. Data collection tools included a personal information questionnaire and a physical self description questionnaire (PSDQ which included 11 sub-scales such as power, endurance, coordination, general health, flexibility, self-esteem, athletic competence, fat, body appearance, body activity and the global physical. The statistical procedures used in this study comprised one way ANOVA and the Newman-keuls test. Results: Body image of disabled athletes in the sub-scales of power, endurance, coordination, flexibility, self-esteem, athletic competence, body activity were higher than disabled and non-disabled individuals who were not athletes (P&le0.001. In addition the sub-scales of the body fat (P=0.012, body appearance (P=0.002 and general health (P=0.001, the results showed that a higher significance for the disabled athletes, however, there wasn’t significant difference for the non-disabled athletes. Conclusion: Thus the result showed that the attitude of the disabled and non-disabled individual in due to their continuous physical activity in that the disabled athletes have got better body images as compared to the disabled and non-disabled individual who have not physical activity.

Same or different: Common pathways of behavioral biomarkers in infants and children with neurodevelopmental disorders?

Science.gov (United States)

Marschik, Peter B; Zhang, Dajie; Esposito, Gianluca; Bölte, Sven; Einspieler, Christa; Sigafoos, Jeff

2017-01-01

The extent to which early motor patterns represent antecedents to later communicative functions, and the emergence of gesture and/or sign as potential communicative acts in neurodevelopmental disorders (NDDs), are research questions that have received recent attention. It is important to keep in mind that different NDDs have different neurological underpinnings, with correspondingly different implications for their conceptualization, detection, and treatment.

Disability and Obesity

Science.gov (United States)

... About CDC.gov . Disability & Health Home Disability Overview Disability Inclusion Barriers to Inclusion Inclusion Strategies Inclusion in Programs & Activities Resources Healthy Living Disability & Physical Activity Disability & Obesity Disability & Smoking Disability & Breast ...

Enlarged cavum septum pellucidum as a neurodevelopmental marker in adolescent-onset opiate dependence.

Directory of Open Access Journals (Sweden)

Jaeuk Hwang

Full Text Available Adolescent-onset exposure to highly addictive substances such as opiates may induce far-reaching deleterious effects on later mental and physical health. However, little is known about the neurodevelopmental basis for adolescent-onset opiate dependence. Here we examined whether having an abnormally large cavum septum pellucidum (CSP, a putative marker of limbic structural maldevelopment, is associated with opiate dependence particularly beginning in adolescence.The overall length of the CSP and the prevalence of abnormal enlargement of the CSP were assessed and compared in 65 opiate-dependent subjects (41 adolescent-onset opiate users and 24 adult-onset opiate users and 67 healthy subjects.Opiate-dependent subjects showed a greater prevalence of abnormal CSP enlargement relative to healthy subjects (odds ratio [OR]=3.64, p=0.034. The overall CSP length of adolescent-onset opiate-dependent subjects was greater, as compared not only with healthy subjects (F₁,₁₀₄=11.03, p=0.001 but also with those who began opiate use during adulthood (F₁,₆₁=4.43, p=0.039.The current findings provide the first evidence that abnormal CSP enlargement, which reflects limbic system dysgenesis of neurodevelopmental origin, may be linked to later development of opiate dependence. In addition, a greater CSP length, which indicates more severe limbic abnormalities, appears to confer higher risk for earlier onset of opiate use.

Urinary amino acid alterations in 3-year-old children with neurodevelopmental effects due to perinatal dioxin exposure in Vietnam: a nested case-control study for neurobiomarker discovery.

Science.gov (United States)

Nishijo, Muneko; Tai, Pham The; Anh, Nguyen Thi Nguyet; Nghi, Tran Ngoc; Nakagawa, Hideaki; Van Luong, Hoang; Anh, Tran Hai; Morikawa, Yuko; Waseda, Tomoo; Kido, Teruhiko; Nishijo, Hisao

2015-01-01

In our previous study of 3-year-old children in a dioxin contamination hot spot in Vietnam, the high total dioxin toxic equivalent (TEQ-PCDDs/Fs)-exposed group during the perinatal period displayed lower Bayley III neurodevelopmental scores, whereas the high 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD)-exposed group displayed increased autistic traits. In autistic children, urinary amino acid profiles have revealed metabolic alterations in the amino acids that serve as neurotransmitters in the developing brain. Therefore, our present study aimed to investigate the use of alterations in urinary amino acid excretion as biomarkers of dioxin exposure-induced neurodevelopmental deficits in highly exposed 3-year-old children in Vietnam. A nested case-control study of urinary analyses was performed for 26 children who were selected from 111 3-year-old children whose perinatal dioxin exposure levels and neurodevelopmental status were examined in follow-up surveys conducted in a dioxin contaminated hot spot. We compared urinary amino acid levels between the following 4 groups: (1) a high TEQ-PCDDs/Fs and high TCDD-exposed group; (2) a high TEQ-PCDDs/Fs but low TCDD-exposed group; (3) a low TEQ-PCDDs/Fs exposed and poorly developed group; and (4) a low TEQ-PCDDs/Fs exposed and well-developed group. Urinary levels of histidine and tryptophan were significantly decreased in the high TEQ-PCDDs/Fs and high TCDD group, as well as in the high TEQ-PCDDs/Fs but low TCDD group, compared with the low TEQ-PCDDs/Fs and well-developed group. However, the ratio of histidine to glycine was significantly lower only in the high TEQ-PCDDs/Fs and high TCDD group. Furthermore, urinary histidine levels and the ratio of histidine to glycine were significantly correlated with neurodevelopmental scores, particularly for language and fine motor skills. These results indicate that urinary histidine is specifically associated with dioxin exposure-induced neurodevelopmental deficits, suggesting that

Memory deficits with intact cognitive control in the methylazoxymethanol acetate (MAM) exposure model of neurodevelopmental insult.

Science.gov (United States)

O'Reilly, Kally C; Perica, Maria I; Fenton, André A

2016-10-01

Cognitive impairments are amongst the most debilitating deficits of schizophrenia and the best predictor of functional outcome. Schizophrenia is hypothesized to have a neurodevelopmental origin, making animal models of neurodevelopmental insult important for testing predictions that early insults will impair cognitive function. Rats exposed to methylazoxymethanol acetate (MAM) at gestational day 17 display morphological, physiological and behavioral abnormalities relevant to schizophrenia. Here we investigate the cognitive abilities of adult MAM rats. We examined brain activity in MAM rats by histochemically assessing cytochrome oxidase enzyme activity, a metabolic marker of neuronal activity. To assess cognition, we used a hippocampus-dependent two-frame active place avoidance paradigm to examine learning and spatial memory, as well as cognitive control and flexibility using the same environment and evaluating the same set of behaviors. We confirmed that adult MAM rats have altered hippocampal morphology and brain function, and that they are hyperactive in an open field. The latter likely indicates MAM rats have a sensorimotor gating deficit that is common to many animal models used for schizophrenia research. On first inspection, cognitive control seems impaired in MAM rats, indicated by more errors during the two-frame active place avoidance task. Because MAM rats are hyperactive throughout place avoidance training, we considered the possibility that the hyperlocomotion may account for the apparent cognitive deficits. These deficits were reduced on the basis of measures of cognitive performance that account for motor activity differences. However, though other aspects of memory are intact, the ability of MAM rats to express trial-to-trial memory is delayed compared to control rats. These findings suggest that spatial learning and cognitive abilities are largely intact, that the most prominent cognitive deficit is specific to acquiring memory in the MAM

Choline status and neurodevelopmental outcomes at 5 years of age in the Seychelles Child Development Nutrition Study.

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Strain, J J; McSorley, Emeir M; van Wijngaarden, Edwin; Kobrosly, Roni W; Bonham, Maxine P; Mulhern, Maria S; McAfee, Alison J; Davidson, Philip W; Shamlaye, Conrad F; Henderson, Juliette; Watson, Gene E; Thurston, Sally W; Wallace, Julie M W; Ueland, Per M; Myers, Gary J

2013-07-28

Choline is an essential nutrient that is found in many food sources and plays a critical role in the development of the central nervous system. Animal studies have shown that choline status pre- and postnatally can have long-lasting effects on attention and memory; however, effects in human subjects have not been well studied. The aim of the present study was to examine the association between plasma concentrations of free choline and its related metabolites in children and their neurodevelopment in the Seychelles Child Development Nutrition Study, an ongoing longitudinal study assessing the development of children born to mothers with high fish consumption during pregnancy. Plasma concentrations of free choline, betaine, dimethylglycine (DMG), methionine and homocysteine and specific measures of neurodevelopment were measured in 210 children aged 5 years. The children's plasma free choline concentration (9·17 (sd 2·09) μmol/l) was moderately, but significantly, correlated with betaine (r 0·24; P= 0·0006), DMG (r 0·15; P= 0·03), methionine (r 0·24; P= 0·0005) and homocysteine (r 0·19; P= 0·006) concentrations. Adjusted multiple linear regression revealed that betaine concentrations were positively associated with Preschool Language Scale – total language scores (β = 0·066; P= 0·04), but no other associations were evident. We found no indication that free choline concentration or its metabolites, within the normal physiological range, are associated with neurodevelopmental outcomes in children at 5 years of age. As there is considerable animal evidence suggesting that choline status during development is associated with cognitive outcome, the issue deserves further study in other cohorts.

Processing Disability.

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Harris, Jasmine

2015-01-01

This Article argues that the practice of holding so many adjudicative proceedings related to disability in private settings (e.g., guardianship, special education due process, civil commitment, and social security) relative to our strong normative presumption of public access to adjudication may cultivate and perpetuate stigma in contravention of the goals of inclusion and enhanced agency set forth in antidiscrimination laws. Descriptively, the law has a complicated history with disability--initially rendering disability invisible; later, underwriting particular narratives of disability synonymous with incapacity; and, in recent history, promoting the full socio-economic visibility of people with disabilities. The Americans with Disabilities Act (ADA), the marquee civil rights legislation for people with disabilities (about to enter its twenty-fifth year), expresses a national approach to disability that recognizes the role of society in its construction, maintenance, and potential remedy. However, the ADA’s mission is incomplete. It has not generated the types of interactions between people with disabilities and nondisabled people empirically shown to deconstruct deeply entrenched social stigma. Prescriptively, procedural design can act as an "ntistigma agent"to resist and mitigate disability stigma. This Article focuses on one element of institutional design--public access to adjudication--as a potential tool to construct and disseminate counter-narratives of disability. The unique substantive focus in disability adjudication on questions of agency provides a potential public space for the negotiation of nuanced definitions of disability and capacity more reflective of the human condition.

Persistent smoking as a predictor of disability pension due to musculoskeletal diagnoses: a 23 year prospective study of Finnish twins.

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Ropponen, Annina; Korhonen, Tellervo; Svedberg, Pia; Koskenvuo, Markku; Silventoinen, Karri; Kaprio, Jaakko

2013-12-01

To investigate whether stability or changes in smoking predict disability pension (DP) due to low back diagnoses (LBD) and musculoskeletal diagnoses (MSD) after taking familial confounding into account using a co-twin design. Longitudinal smoking patterns and multiple covariates in a population-based cohort of 17,451 Finnish twins (6959 complete pairs) born before 1958 were surveyed through questionnaires in 1975 and 1981. The outcome data were collected from the national pension registers until the end of 2004. Cox proportional hazards regression models were used for statistical analyses. Disability pension due to low back diagnoses was granted to 408 individuals and disability pension due to musculoskeletal diagnoses to 1177 individuals during the follow-up of 23 years. Being a persistent smoker (current smoker both 1975 and 1981) predicted a significantly increased risk for disability pension (hazard ratio 1.69, 95% confidence interval 1.46, 1.97) compared to those individuals who had never smoked. The association remained when several confounding factors, including familial factors, were taken into account. Persistent smoking predicts early disability pension due to musculoskeletal diagnoses and low back diagnoses independently from numerous confounding factors, including familial effects shared by the co-twins. © 2013.

Genetic Defects Underlie the Non-syndromic Autosomal Recessive Intellectual Disability (NS-ARID

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Saleha Shamim

2017-05-01

Full Text Available Intellectual disability (ID is a neurodevelopmental disorder which appears frequently as the result of genetic mutations and may be syndromic (S-ID or non-syndromic (NS-ID. ID causes an important economic burden, for patient's family, health systems, and society. Identifying genes that cause S-ID can easily be evaluated due to the clinical symptoms or physical anomalies. However, in the case of NS-ID due to the absence of co-morbid features, the latest molecular genetic techniques can be used to understand the genetic defects that underlie it. Recent studies have shown that non-syndromic autosomal recessive (NS-ARID is extremely heterogeneous and contributes much more than X-linked ID. However, very little is known about the genes and loci involved in NS-ARID relative to X-linked ID, and whose complete genetic etiology remains obscure. In this review article, the known genetic etiology of NS-ARID and possible relationships between genes and the associated molecular pathways of their encoded proteins has been reviewed which will enhance our understanding about the underlying genes and mechanisms in NS-ARID.

Neurodevelopmental status of infants and young children treated for brain tumors with preirradiation chemotherapy

International Nuclear Information System (INIS)

Mulhern, R.K.; Horowitz, M.E.; Kovnar, E.H.; Langston, J.; Sanford, R.A.; Kun, L.E.

1989-01-01

In an effort to reduce the severity of late neurotoxicities associated with cranial irradiation, 14 infants and young children with malignant brain tumors were given preirradiation chemotherapy for 2 to 22 months (median, 8 months). Prospective neurodevelopmental evaluations were routinely conducted and now extend from 35 to 60 months (median, 41 months) postdiagnosis, and 10 to 52 months (median, 31 months) postirradiation in the 12 surviving children. At the initiation of chemotherapy, less than one fourth of the patients displayed normal performance status or mental functioning on age-corrected tests; the majority remained stable or declined while receiving chemotherapy. Declining mental development and adaptive behavior were noted in six patients following radiation therapy with only two patients now functioning in the normal range for age. The analysis suggests that neurodevelopmental progress is a function of multiple factors, including neurologic and sensorimotor deficits associated with the tumor, surgical intervention, and chemotherapy that antedated radiation therapy. This implies that delaying irradiation will not necessarily improve the patients' functional status. Whether the interval of postponement of irradiation evidenced in this sample will translate into an ultimately better quality of life remains unknown. Given the probable interaction of multiple risk factors, well-controlled prospective clinical trials are needed to definitively analyze this issue

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

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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.

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

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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.

Can ω-3 fatty acids and tocotrienol-rich vitamin E reduce symptoms of neurodevelopmental disorders?

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Gumpricht, Eric; Rockway, Susie

2014-01-01

The incidence of childhood neurodevelopmental disorders, which include autism, attention-deficit hyperactivity disorders, and apraxia, are increasing worldwide and have a profound effect on the behaviors, cognitive skills, mood, and self-esteem of these children. Although the etiologies of these disorders are unclear, they often accompany genetic and biochemical abnormalities resulting in cognitive and communication difficulties. Because cognitive and neural development require essential fatty acids (particularly long-chain ω-3 fatty acids often lacking in mother's and children's diets) during critical growth periods, the potential behavior-modifying effects of these fatty acids as "brain nutrients" has attracted considerable attention. Additionally, there is compelling evidence for increased oxidative stress, altered antioxidant defenses, and neuroinflammation in these children. The purpose of this review is to provide a scientific rationale based on cellular, experimental animal model, observational, and clinical intervention studies for incorporating the combination of ω-3 fatty acids and tocotrienol-rich vitamin E as complementary nutritional therapies in children with neurodevelopmental disorders. Should this nutritional combination correct key clinical or biochemical outcomes and/or improve behavioral patterns, it would provide a safe, complementary option for these children. Copyright © 2014 Elsevier Inc. All rights reserved.

Cerebral oxygenation is associated with neurodevelopmental outcome of preterm children at age 2 to 3 years

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Verhagen, Elise A.; Van Braeckel, Koenraad N. J. A.; van der Veere, Christa N.; Groen, Henk; Dijk, Peter H.; Hulzebos, Christian V.; Bos, Arend F.

AIM: The aim of the study was to determine whether regional cerebral tissue oxygen saturation (rc SO2 ) and fractional tissue oxygen extraction (FTOE), using near-infrared spectroscopy, are associated with neurodevelopmental outcome of preterm infants. METHOD: We measured rc SO2 on days 1, 2, 3, 4,

Growth and Neurodevelopmental Outcomes of Early, High-Dose Parenteral Amino Acid Intake in Very Low Birth Weight Infants: A Randomized Controlled Trial.

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Balakrishnan, Maya; Jennings, Alishia; Przystac, Lynn; Phornphutkul, Chanika; Tucker, Richard; Vohr, Betty; Stephens, Bonnie E; Bliss, Joseph M

2017-03-01

Administration of high-dose parenteral amino acids (AAs) to premature infants within hours of delivery is currently recommended. This study compared the effect of lower and higher AA administration starting close to birth on short-term growth and neurodevelopmental outcomes at 18-24 months corrected gestational age (CGA). Infants Toddler Development, Third Edition at 18-24 months CGA. Secondary outcomes were growth parameters at 36 weeks CGA among infants surviving to hospital discharge, serum bicarbonate, serum urea nitrogen, creatinine, AA profiles in the first week of life, and incidence of major morbidities and mortality. No differences in neurodevelopmental outcome were detected between the high and low AA groups. Infants in the high AA group had significantly lower mean weight, length, and head circumference percentiles than those in the standard AA group at 36 weeks CGA and at hospital discharge. These differences did not persist after controlling for birth growth parameters, except for head circumference. Infants in the high AA group had higher mean serum urea nitrogen than the standard group on each day throughout the first week. Current recommendations for high-dose AA starting at birth are not associated with improved growth or neurodevelopmental outcomes.

Defining Disability: Understandings of and Attitudes Towards Ableism and Disability

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Carli Friedman

2017-03-01

Full Text Available Disabled people, amidst political and social gains, continue to experience discrimination in multiple areas. Understanding how such discrimination, named here as ableism, operates is important and may require studying perspectives of people who do not claim a disability identity.  Ableism may be expressed in a number of ways, and examining how a particular group, in this case siblings of disabled people, understand and value disability may contribute to overall understandings about how ableism works. Thus, the purpose of this study is to explore relationships between siblings of disabled people's broad societal understandings of disability and their attitudes towards it. In order to tease out this relationship further we have also examined factors that impact how people define disability. Using both social psychological and sociological approaches, we have contextualized individual attitudes as providing additional new information about social meanings of disability, and set this study's results against the larger backdrops of debates over meanings of disability within Disability Studies. In our research, participants revealed complex understandings of disability, but most often defined disability as preventing or slowing action, as an atypical function, a lack of independence, and as a socially constructed obstacle. Participants' unconscious (implicit disability attitudes significantly related to their understandings of disability as lacking independence, impairment, and/or in relation to the norm, and their conscious (explicit disability attitudes. Moreover, longer employment in a disability-related industry was correlated with defining disability as a general difference, rather than as slowing or limiting of tasks.

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

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Lowther, Chelsea; Speevak, Marsha; Armour, Christine M.; Goh, Elaine S.; Graham, Gail E.; Li, Chumei; Zeesman, Susan; Nowaczyk, Malgorzata J.M.; Schultz, Lee-Anne; Morra, Antonella; Nicolson, Rob; Bikangaga, Peter; Samdup, Dawa; Zaazou, Mostafa; Boyd, Kerry; Jung, Jack H.; Siu, Victoria; Rajguru, Manjulata; Goobie, Sharan; Tarnopolsky, Mark A.; Prasad, Chitra; Dick, Paul T.; Hussain, Asmaa S.; Walinga, Margreet; Reijenga, Renske G.; Gazzellone, Matthew; Lionel, Anath C.; Marshall, Christian R.; Scherer, Stephen W.; Stavropoulos, Dimitri J.; McCready, Elizabeth; Bassett, Anne S.

2016-01-01

Purpose The purpose of the current study was to assess the penetrance of NRXN1 deletions. Methods We compared the prevalence and genomic extent of NRXN1 deletions identified among 19,263 clinically referred cases to that of 15,264 controls. The burden of additional clinically relevant CNVs was used as a proxy to estimate the relative penetrance of NRXN1 deletions. Results We identified 41 (0.21%) previously unreported exonic NRXN1 deletions ascertained for developmental delay/intellectual disability, significantly greater than in controls [OR=8.14 (95% CI 2.91–22.72), p< 0.0001)]. Ten (22.7%) of these had a second clinically relevant CNV. Subjects with a deletion near the 3′ end of NRXN1 were significantly more likely to have a second rare CNV than subjects with a 5′ NRXN1 deletion [OR=7.47 (95% CI 2.36–23.61), p=0.0006]. The prevalence of intronic NRXN1 deletions was not statistically different between cases and controls (p=0.618). The majority (63.2%) of intronic NRXN1 deletion cases had a second rare CNV, a two-fold greater prevalence than for exonic NRXN1 deletion cases (p=0.0035). Conclusions The results support the importance of exons near the 5′ end of NRXN1 in the expression of neurodevelopmental disorders. Intronic NRXN1 deletions do not appear to substantially increase the risk for clinical phenotypes. PMID:27195815

Physical Fitness in Young Adults Born Preterm.

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Tikanmäki, Marjaana; Tammelin, Tuija; Sipola-Leppänen, Marika; Kaseva, Nina; Matinolli, Hanna-Maria; Miettola, Satu; Eriksson, Johan G; Järvelin, Marjo-Riitta; Vääräsmäki, Marja; Kajantie, Eero

2016-01-01

Young adults born preterm have higher levels of cardiometabolic risk factors than their term-born peers. Muscular and cardiorespiratory fitness have important cardiometabolic and other health benefits. We assessed muscular, cardiorespiratory, and self-rated fitness in preterm-born young adults. We studied unimpaired participants of the ESTER (Ennenaikainen syntymä ja aikuisiän terveys [Preterm Birth and Early-Life Programming of Adult Health and Disease]) birth cohort study at age 23.3 (SD: 1.2) years: 139 born early preterm (EPT; Young adults born EPT (-0.8; 95% confidence interval: -1.5 to -0.1; adjusted for gender, age, and source cohort) and LPT (-0.8; -1.4 to -0.3) performed fewer modified push-ups than controls. Handgrip strength was 23.8 (0.9-46.8) N lower in EPT participants. Cardiorespiratory fitness, measured by submaximal step test, was similar. On a self-rated fitness scale (1-5), the EPT adults reported 0.2 (0.0-0.4) lower scores than controls. After adjustment for early-life confounders, the results remained. They attenuated after further adjustment for mediating factors. Young adults born EPT and LPT had lower muscular fitness than controls, which may predispose them to cardiometabolic and other chronic diseases. Adults born EPT also perceived themselves as less fit than controls. Copyright © 2016 by the American Academy of Pediatrics.

Targeting Glia with N-Acetylcysteine Modulates Brain Glutamate and Behaviors Relevant to Neurodevelopmental Disorders in C57BL/6J Mice

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Durieux, Alice M. S.; Fernandes, Cathy; Murphy, Declan; Labouesse, Marie Anais; Giovanoli, Sandra; Meyer, Urs; Li, Qi; So, Po-Wah; McAlonan, Grainne

2015-01-01

An imbalance between excitatory (E) glutamate and inhibitory (I) GABA transmission may underlie neurodevelopmental conditions such as autism spectrum disorder (ASD) and schizophrenia. This may be direct, through alterations in synaptic genes, but there is increasing evidence for the importance of indirect modulation of E/I balance through glial mechanisms. Here, we used C57BL/6J mice to test the hypothesis that striatal glutamate levels can be shifted by N-acetylcysteine (NAC), which acts at the cystine-glutamate antiporter of glial cells. Striatal glutamate was quantified in vivo using proton magnetic resonance spectroscopy. The effect of NAC on behaviors relevant to ASD was examined in a separate cohort. NAC induced a time-dependent decrease in striatal glutamate, which recapitulated findings of lower striatal glutamate reported in ASD. NAC-treated animals were significantly less active and more anxious in the open field test; and NAC-treated females had significantly impaired prepulse inhibition of startle response. This at least partly mimics greater anxiety and impaired sensorimotor gating reported in neurodevelopmental disorders. Thus glial mechanisms regulate glutamate acutely and have functional consequences even in adulthood. Glial cells may be a potential drug target for the development of new therapies for neurodevelopmental disorders across the life-span. PMID:26696857

Targeting glia with N-Acetylcysteine modulates brain glutamate and behaviours relevant to neurodevelopmental disorders in C57BL/6J mice

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Alice Marie Sybille Durieux

2015-12-01

Full Text Available An imbalance between excitatory (E glutamate and inhibitory (I GABA transmission may underlie neurodevelopmental conditions such as Autism Spectrum Disorder (ASD and schizophrenia. This may be direct, through alterations in synaptic genes, but there is increasing evidence for the importance of indirect modulation of E/I balance through glial mechanisms. Here we used C57BL/6J mice to test the hypothesis that striatal glutamate levels can be shifted by N-acetylcysteine (NAC, which acts at the cystine-glutamate antiporter of glial cells. Striatal glutamate was quantified in-vivo using proton magnetic resonance spectroscopy. The effect of NAC on behaviours relevant to ASD was examined in a separate cohort. NAC induced a time-dependent decrease in striatal glutamate, which recapitulated findings of lower striatal glutamate reported in ASD. NAC-treated animals were significantly less active and more anxious in the open field test; and NAC-treated females had significantly impaired prepulse inhibition of startle response. This at least partly mimics greater anxiety and impaired sensorimotor gating reported in neurodevelopmental disorders. Thus glial mechanisms regulate glutamate acutely and have functional consequences even in adulthood. Glial cells may be a potential drug target for the development of new therapies for neurodevelopmental disorders across the life-span.

Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment.

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Ying F Liu

Full Text Available Cell-adhesion molecules of the immunoglobulin superfamily play critical roles in brain development, as well as in maintaining synaptic plasticity, the dysfunction of which is known to cause cognitive impairment. Recently dysfunction of KIRREL3, a synaptic molecule of the immunoglobulin superfamily, has been implicated in several neurodevelopmental conditions including intellectual disability, autism spectrum disorder, and in the neurocognitive delay associated with Jacobsen syndrome. However, the molecular mechanisms of its physiological actions remain largely unknown. Using a yeast two-hybrid screen, we found that the KIRREL3 extracellular domain interacts with brain expressed proteins MAP1B and MYO16 and its intracellular domain can potentially interact with ATP1B1, UFC1, and SHMT2. The interactions were confirmed by co-immunoprecipitation and colocalization analyses of proteins expressed in human embryonic kidney cells, mouse neuronal cells, and rat primary neuronal cells. Furthermore, we show KIRREL3 colocalization with the marker for the Golgi apparatus and synaptic vesicles. Previously, we have shown that KIRREL3 interacts with the X-linked intellectual disability associated synaptic scaffolding protein CASK through its cytoplasmic domain. In addition, we found a genomic deletion encompassing MAP1B in one patient with intellectual disability, microcephaly and seizures and deletions encompassing MYO16 in two unrelated patients with intellectual disability, autism and microcephaly. MAP1B has been previously implicated in synaptogenesis and is involved in the development of the actin-based membrane skeleton. MYO16 is expressed in hippocampal neurons and also indirectly affects actin cytoskeleton through its interaction with WAVE1 complex. We speculate KIRREL3 interacting proteins are potential candidates for intellectual disability and autism spectrum disorder. Moreover, our findings provide further insight into understanding the molecular