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Sample records for neurodevelopmental disorder affecting

  1. ACE: Health - Neurodevelopmental Disorders

    Science.gov (United States)

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

  2. Sleep in Neurodevelopmental Disorders

    Science.gov (United States)

    Esbensen, Anna J; Schwichtenberg, Amy J

    2017-01-01

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

  3. Treatments for Neurodevelopmental Disorders

    DEFF Research Database (Denmark)

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

    2013-01-01

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

  4. Reversing Neurodevelopmental Disorders in Adults

    National Research Council Canada - National Science Library

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

    2008-01-01

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

  5. PURA-related neurodevelopmental disorders

    OpenAIRE

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

    2017-01-01

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

  6. Drug development for neurodevelopmental disorders

    DEFF Research Database (Denmark)

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

    2018-01-01

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

  7. Emerging pharmacotherapies for neurodevelopmental disorders.

    Science.gov (United States)

    Wetmore, Daniel Z; Garner, Craig C

    2010-09-01

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

  8. Sleep in Neurodevelopmental and Neurodegenerative Disorders.

    Science.gov (United States)

    Kotagal, Suresh

    2015-06-01

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

  9. 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.

  10. Antisocial Personality as a Neurodevelopmental Disorder.

    Science.gov (United States)

    Raine, Adrian

    2018-01-25

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

  11. The cerebellum and neurodevelopmental disorders

    Science.gov (United States)

    Stoodley, Catherine J.

    2015-01-01

    Cerebellar dysfunction is evident in several developmental disorders, including autism, attention deficit hyperactivity disorder (ADHD), and developmental dyslexia, and damage to the cerebellum early in development can have long-term effects on movement, cognition, and affective regulation. Early cerebellar damage is often associated with poorer outcomes than cerebellar damage in adulthood, suggesting that the cerebellum is particularly important during development. Differences in cerebellar development and/or early cerebellar damage could impact a wide range of behaviors via the closed-loop circuits connecting the cerebellum with multiple cerebral cortical regions. Based on these anatomical circuits, behavioral outcomes should depend on which cerebro-cerebellar circuits are affected. Here, we briefly review cerebellar structural and functional differences in autism, ADHD, and developmental dyslexia, and discuss clinical outcomes following pediatric cerebellar damage. These data confirm the prediction that abnormalities in different cerebellar subregions produce behavioral symptoms related to the functional disruption of specific cerebro-cerebellar circuits. These circuits might also be crucial to structural brain development, as peri-natal cerebellar lesions have been associated with impaired growth of the contralateral cerebral cortex. The specific contribution of the cerebellum to typical development may therefore involve the optimization of both the structure and function of cerebro-cerebellar circuits underlying skill acquisition in multiple domains; when this process is disrupted, particularly in early development, there could be long-term alterations of these neural circuits, with significant impacts on behavior. PMID:26298473

  12. The Cerebellum and Neurodevelopmental Disorders.

    Science.gov (United States)

    Stoodley, Catherine J

    2016-02-01

    Cerebellar dysfunction is evident in several developmental disorders, including autism, attention deficit-hyperactivity disorder (ADHD), and developmental dyslexia, and damage to the cerebellum early in development can have long-term effects on movement, cognition, and affective regulation. Early cerebellar damage is often associated with poorer outcomes than cerebellar damage in adulthood, suggesting that the cerebellum is particularly important during development. Differences in cerebellar development and/or early cerebellar damage could impact a wide range of behaviors via the closed-loop circuits connecting the cerebellum with multiple cerebral cortical regions. Based on these anatomical circuits, behavioral outcomes should depend on which cerebro-cerebellar circuits are affected. Here, we briefly review cerebellar structural and functional differences in autism, ADHD, and developmental dyslexia, and discuss clinical outcomes following pediatric cerebellar damage. These data confirm the prediction that abnormalities in different cerebellar subregions produce behavioral symptoms related to the functional disruption of specific cerebro-cerebellar circuits. These circuits might also be crucial to structural brain development, as peri-natal cerebellar lesions have been associated with impaired growth of the contralateral cerebral cortex. The specific contribution of the cerebellum to typical development may therefore involve the optimization of both the structure and function of cerebro-cerebellar circuits underlying skill acquisition in multiple domains; when this process is disrupted, particularly in early development, there could be long-term alterations of these neural circuits, with significant impacts on behavior.

  13. School Neuropsychology Consultation in Neurodevelopmental Disorders

    Science.gov (United States)

    Decker, Scott L.

    2008-01-01

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

  14. Drosophila Modeling of Heritable Neurodevelopmental Disorders

    OpenAIRE

    Gatto, Cheryl L.; Broadie, Kendal

    2011-01-01

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

  15. Mental disorders, brain disorders, neurodevelopmental disorders ...

    African Journals Online (AJOL)

    . Amongst DSM's most vocal 'insider' critics has been Thomas Insel, Director of the US National Institute of Mental Health. Insel has publicly criticised DSM's adherence to a symptom-based classification of mental disorder, and used the weight ...

  16. 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.

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

    NARCIS (Netherlands)

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

    2016-01-01

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

  18. Drosophila modeling of heritable neurodevelopmental disorders.

    Science.gov (United States)

    Gatto, Cheryl L; Broadie, Kendal

    2011-12-01

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

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

    Science.gov (United States)

    Weber-Stadlbauer, U

    2017-05-02

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

  20. Which neurodevelopmental disorders get researched and why?

    Science.gov (United States)

    Bishop, Dorothy V M

    2010-11-30

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

  1. Which neurodevelopmental disorders get researched and why?

    Directory of Open Access Journals (Sweden)

    Dorothy V M Bishop

    2010-11-01

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

  2. Complex Neurodevelopmental Disorders And Their Genetic Etiologies

    Directory of Open Access Journals (Sweden)

    Amna Batool

    2015-08-01

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

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

    Science.gov (United States)

    Livingston, Lucy Anne; Happé, Francesca

    2017-06-19

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

  4. Yield of additional metabolic studies in neurodevelopmental disorders

    NARCIS (Netherlands)

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

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

  5. Cross Talk: The Microbiota and Neurodevelopmental Disorders

    Directory of Open Access Journals (Sweden)

    John R. Kelly

    2017-09-01

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

  6. Cross Talk: The Microbiota and Neurodevelopmental Disorders

    Science.gov (United States)

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

    2017-01-01

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

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

    NARCIS (Netherlands)

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

    2014-01-01

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

  8. 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.

  9. GABAergic circuit dysfunctions in neurodevelopmental disorders

    Directory of Open Access Journals (Sweden)

    Bidisha eChattopadhyaya

    2012-05-01

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

  10. Increased nuchal translucency thickness and risk of neurodevelopmental disorders

    DEFF Research Database (Denmark)

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

    2017-01-01

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

  11. Neurodevelopmental disorders in children with neurofibromatosis type 1.

    Science.gov (United States)

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

    2017-11-01

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

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

    Science.gov (United States)

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

    2016-01-01

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

  13. 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…

  14. 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.

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

    Science.gov (United States)

    Ullman, Michael T; Pullman, Mariel Y

    2015-04-01

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

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

    Directory of Open Access Journals (Sweden)

    Mukesh Varshney

    2017-02-01

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

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

    Science.gov (United States)

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

    2014-05-01

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

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

    Directory of Open Access Journals (Sweden)

    E. Rossignol

    2011-01-01

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

  19. Epigenetic Mechanisms and Therapeutic Perspectives for Neurodevelopmental Disorders

    OpenAIRE

    Kubota, Takeo; Takae, Hirasawa; Miyake, Kunio

    2012-01-01

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

  20. Family adjustment and interventions in neurodevelopmental disorders.

    Science.gov (United States)

    Dykens, Elisabeth M

    2015-03-01

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

  1. Early care in children with neurodevelopmental disorders

    Directory of Open Access Journals (Sweden)

    Jacqueline Ponce-Meza

    2017-04-01

    Full Text Available The article analyzes the importance of early care in child development, guiding a neuropsychological perspective of development. The early care model seeks to refer to the set of interventions aimed at children and their work in conjunction with a multidisciplinary team. It presents recommendations for the implementation of programs that allow early intervention in the early years, so that the process of care for the affected children can be optimized by the different early developmental and learning alterations.

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

    Directory of Open Access Journals (Sweden)

    Dichter Gabriel S

    2012-07-01

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

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

    Science.gov (United States)

    Harris, James C

    2003-08-01

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

  4. Translational animal models of autism and neurodevelopmental disorders.

    Science.gov (United States)

    Crawley, Jacqueline N

    2012-09-01

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

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

    National Research Council Canada - National Science Library

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

    2017-01-01

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

  6. "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…

  7. Epigenetic Mechanisms and Therapeutic Perspectives for Neurodevelopmental Disorders

    Directory of Open Access Journals (Sweden)

    Kunio Miyake

    2012-04-01

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

  8. Het hoofdstuk 'neurodevelopmental disorders' in de DSM-5 [DSM-5: neurodevelopmental disorders

    NARCIS (Netherlands)

    Zinkstok, J.; Buitelaar, J.

    2014-01-01

    BACKGROUND: The 5th edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM) was published in May, 2013. AIM: To review the changes in the diagnostic criteria for autism spectrum disorder (ASD) and ADHD in DSM-5, compared to DSM-IV. METHOD: The diagnostic criteria for ASD and ADHD

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

    Science.gov (United States)

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

    2015-08-01

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

  10. Perspectives from neuro-developmental disorders affecting ...

    Indian Academy of Sciences (India)

    Unknown

    theory of principles and parameters, basically argue for a core syntactic module, the operations of which are con- ... explicit theories accounting for this (social interactive) perspective are still in the making. (i) Lesion ..... Disabilities in India: Willing the Mind to Learn (eds) P. Karanth and J Rozario (New Delhi: Sage) pp 62–76.

  11. Management of Sleep Disorders in Children With Neurodevelopmental Disorders: A Review.

    Science.gov (United States)

    Blackmer, Allison Beck; Feinstein, James A

    2016-01-01

    Neurodevelopmental disorders (NDDs) are defined as a group of disorders caused by changes in early brain development, resulting in behavioral and cognitive alterations in sensory and motor systems, speech, and language. NDDs affect approximately 1-2% of the general population. Up to 80% of children with NDDs are reported to have disrupted sleep; subsequent deleterious effects on daytime behaviors, cognition, growth, and overall development of the child are commonly reported. Examples of NDDs discussed in this review include autism spectrum disorder, cerebral palsy, Rett syndrome, Angelman syndrome, Williams syndrome, and Smith-Magenis syndrome. The etiology of sleep disorders in children with NDDs is largely heterogeneous and disease specific. The diagnosis and management of sleep disorders in this population are complex, and little high-quality data exist to guide a consistent approach to therapy. Managing sleep disorders in children with NDDs is critical both for the child and for the family but is often frustrating due to the refractory nature of the problem. Sleep hygiene must be implemented as first-line therapy; if sleep hygiene alone fails, it should be combined with pharmacologic management. The available evidence for the use of common pharmacologic interventions, such as iron supplementation and melatonin, as well as less common interventions, such as melatonin receptor agonists, clonidine, gabapentin, hypnotics, trazodone, and atypical antipsychotics is reviewed. Further, parents and caregivers should be provided with appropriate education on the nature of the sleep disorders and the expectation for modest pharmacologic benefit, at best. Additional data from well-designed trials in children with NDDs are desperately needed to gain a better understanding of sleep pharmacotherapy including efficacy and safety implications. Until then, clinicians must rely on the limited available data, as well as clinical expertise, when managing sleep disorders in the

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

    Science.gov (United States)

    Wentz, Elisabet; Björk, Anna; Dahlgren, Jovanna

    2017-01-01

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

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

    Science.gov (United States)

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

    2013-06-01

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

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

    Science.gov (United States)

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

    2017-08-01

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

  15. Participation in Physical Activity for Children with Neurodevelopmental Disorders

    Directory of Open Access Journals (Sweden)

    Rubab G. Arim

    2012-01-01

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

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

    NARCIS (Netherlands)

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

    2013-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Takuya Higashionna

    2017-12-01

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

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

    Science.gov (United States)

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

    2015-01-01

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

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

    Science.gov (United States)

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

    2015-05-11

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

  20. Neurodevelopmental origins of bipolar disorder: iPSC models.

    Science.gov (United States)

    O'Shea, K Sue; McInnis, Melvin G

    2016-06-01

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

  1. 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

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

    Science.gov (United States)

    Chauhan, Ved; Chauhan, Abha

    2016-06-01

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

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

    Science.gov (United States)

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

    2016-01-01

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

  4. 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.

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

    Science.gov (United States)

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

    2014-10-01

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

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

    Science.gov (United States)

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

    2017-01-01

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

  7. 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,…

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

    Science.gov (United States)

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

    2012-04-01

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

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

    Science.gov (United States)

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

    2014-05-01

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

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

    Science.gov (United States)

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

    2013-04-01

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

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

    Science.gov (United States)

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

    2010-01-01

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

  12. Investigating mechanisms underlying neurodevelopmental phenotypes of autistic and intellectual disability disorders: a perspective

    Directory of Open Access Journals (Sweden)

    Tim eKroon

    2013-10-01

    Full Text Available Brain function and behaviour undergo significant plasticity and refinement, particularly during specific critical and sensitive periods. In autistic and intellectual disability neurodevelopmental disorders (NDDs and their corresponding genetic mouse models, impairments in many neuronal and behavioural phenotypes are temporally regulated and in some cases, transient. However, the links between neurobiological mechanisms governing typically normal brain and behavioural development (referred to also as ‘neurotypical’ development and timing of NDD impairments are not fully investigated.This perspective highlights temporal patterns of synaptic and neuronal impairment, with a restricted focus on autism and intellectual disability types of NDDs. Given the varying known genetic and environmental causes for NDDs, this perspective proposes two strategies for investigation: (1 a focus on neurobiological mechanisms underlying known critical periods in the (typically normal-developing brain (2 investigation of spatio-temporal expression profiles of genes implicated in monogenic syndromes throughout affected brain regions.This approach may help explain why many NDDs with differing genetic causes can result in overlapping phenotypes at similar developmental stages and better predict vulnerable periods within these disorders, with implications for both therapeutic rescue and ultimately, prevention.

  13. Neurodevelopmental Hypothesis about the Etiology of Autism Spectrum Disorders

    Directory of Open Access Journals (Sweden)

    Toshio Inui

    2017-07-01

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

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

    Science.gov (United States)

    Peralta, Victor; Cuesta, Manuel J

    2017-09-01

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

  15. 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…

  16. 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.

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

    Science.gov (United States)

    Kajta, Małgorzata; Wójtowicz, Anna

    2010-01-01

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

  18. 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.

  19. Copy-number variants in neurodevelopmental disorders: promises and challenges.

    LENUS (Irish Health Repository)

    Merikangas, Alison K

    2012-02-01

    Copy-number variation (CNV) is the most prevalent type of structural variation in the human genome. There is emerging evidence that copy-number variants (CNVs) provide a new vista on understanding susceptibility to neuropsychiatric disorders. Some challenges in the interpretation of current CNV studies include the use of overlapping samples, differing phenotypic definitions, an absence of population norms for CNVs and a lack of consensus in methods for CNV detection and analysis. Here, we review current CNV association study methods and results in autism spectrum disorders (ASD) and schizophrenia, and provide suggestions for design approaches to future studies that might maximize the translation of this work to etiological understanding.

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

    NARCIS (Netherlands)

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

    The diuretic agent bumetanide has recently been put forward as a novel, promising treatment of behavioral symptoms in autism spectrum disorder (ASD) and related conditions. Bumetanide can decrease neuronal chloride concentrations and may thereby reinstate γ-aminobutyric acid (GABA)-ergic inhibition

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

    NARCIS (Netherlands)

    Bruining, H.; Passtoors, L.; Goriounova, N.A.; Jansen, F.; Hakvoort, B.; de Jonge, M.; Poil, S.S.

    2015-01-01

    The diuretic agent bumetanide has recently been put forward as a novel, abstract promising treatment of behavioral symptoms in autism spectrum disorder (ASD) and related conditions. Bumetanide can decrease neuronal chloride concentrations and may thereby reinstate g-aminobutyric acid (GABA)-ergic

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

    DEFF Research Database (Denmark)

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

    2011-01-01

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

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

    OpenAIRE

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

    2017-01-01

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

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

    OpenAIRE

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

    2016-01-01

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

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

    OpenAIRE

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

    2013-01-01

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

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

    Science.gov (United States)

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

    2017-06-14

    Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, developmental delay, and hypopigmentation. Mutations in EPG5, a gene that encodes a key autophagy regulator, have been shown to cause VICIS, however, the precise pathomechanism underlying VICIS is yet to be clarified. Here, we describe detailed clinical (including brain MRI and muscle biopsy) and genetic features of nine Japanese patients with VICIS. Genetic dissection of these nine patients from seven families identified 14 causative mutations in EPG5. These included five nonsense, two frameshift, three splicing, one missense, and one multi-exon deletion mutations, and two initiation codon variants. Furthermore, cultured skin fibroblasts (SFs) from two affected patients demonstrated partial autophagic dysfunction. To investigate the function of EPG5, siRNA based EPG5 knock-down, and CRISPR/Cas9 mediated EPG5 knock-out HeLa cells were generated. EPG5-depleted cells exhibited a complete block of autophagic flux caused by defective autophagosome-lysosome fusion. Unexpectedly, endocytic degradation was normal in both VICIS SFs and EPG5 depleted cells, suggesting that EPG5 function is limited to the regulation of autophagosome-lysosome fusion.

  7. Early Prevention of Severe Neurodevelopmental Behavior Disorders: An Integration

    OpenAIRE

    Schroeder, Stephen R.; Courtemanche, Andrea

    2012-01-01

    There is a very substantial literature over the past 50 years on the advantages of early detection and intervention on the cognitive, communicative, and social-emotional development of infants and toddlers at risk for developmental delay due to premature birth or social disadvantage. Most of these studies excluded children with severe delays or other predisposing conditions, such as genetic or brain disorders. Many studies of children with biological or socio-developmental risk suggest that b...

  8. Disparities in Canadian indigenous health research on neurodevelopmental disorders.

    Science.gov (United States)

    Di Pietro, Nina C; Illes, Judy

    2014-01-01

    To map the landscape of research on autism (ASD), cerebral palsy (CP), and fetal alcohol spectrum disorder (FASD) in Canadian Aboriginal children. The authors used a detailed search strategy to identify and access publications on ASD, CP, and FASD involving Canadian Aboriginal children, families, and communities from online databases. They analyzed these materials for the type of research, stated objectives, methodologies, and the level of engagement of Aboriginal Peoples. The authors found a total of 52 reports published since 1981 relevant to Aboriginal children. Of these, 51 focused exclusively on FASD. They also found a near-complete failure to acknowledge community involvement in research decisions or dissemination of results in any of the publications. The focus on FASD in Aboriginal children and the absence of research on the other 2 major childhood disorders are at odds with rates of these disorders across Canadian children. The authors argue that this trend violates fundamental principles ensuring equitable representation of all children regardless of background in research and access to benefits of research in health care and perpetuates stigma in an already marginalized population.

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

    National Research Council Canada - National Science Library

    Nguyen Quoc Vuong Tran; Kunio Miyake

    2017-01-01

    .... 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...

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

    National Research Council Canada - National Science Library

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

    2015-01-01

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

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

    Science.gov (United States)

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

    2014-09-01

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

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

    Science.gov (United States)

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

    2015-06-01

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

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

    Science.gov (United States)

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

    2018-02-01

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

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

    Science.gov (United States)

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

    2013-08-01

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

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

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    Andrea G Edlow

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

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

    Science.gov (United States)

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

    2015-01-01

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

  17. 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

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

    Directory of Open Access Journals (Sweden)

    Yewande O. Oshodi

    2017-01-01

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

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

    Science.gov (United States)

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

    2016-01-01

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

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

    Science.gov (United States)

    Verhoeff, Berend

    2014-06-01

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

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

    Science.gov (United States)

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

    2014-01-01

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

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

    Science.gov (United States)

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

    2017-03-01

    Autosomal recessive inherited neurodevelopmental disorders are highly heterogeneous, and many, possibly most, of the disease genes are still unknown. To promote the identification of disease genes through confirmation of previously described genes and presentation of novel candidates and provide an overview of the diagnostic yield of exome sequencing in consanguineous families. Autozygosity mapping in families and exome sequencing of index patients were performed in 152 consanguineous families (the parents descended from a same ancestor) with at least 1 offspring with intellectual disability (ID). The study was conducted from July 1, 2008, to June 30, 2015, and data analysis was conducted from July 1, 2015, to August 31, 2016. Of the 152 consanguineous families enrolled, 1 child (in 45 families [29.6%]) or multiple children (107 families [70.4%]) had ID; additional features were present in 140 of the families (92.1%). The mean (SD) age of the children was 10.3 (9.0) years, and 171 of 297 (57.6%) were male. In 109 families (71.7%), potentially protein-disrupting and clinically relevant variants were identified. Of these, a clear clinical genetic diagnosis was made in 56 families (36.8%) owing to 57 (likely) pathogenic variants in 50 genes already established in neurodevelopmental disorders (46 autosomal recessive, 2 X-linked, and 2 de novo) or in 7 previously proposed recessive candidates. In 5 of these families, potentially treatable disorders were diagnosed (mutations in PAH, CBS, MTHFR, CYP27A1, and HIBCH), and in 1 family, 2 disease-causing homozygous variants in different genes were identified. In another 48 families (31.6%), 52 convincing recessive variants in candidate genes that were not previously reported in regard to neurodevelopmental disorders were identified. Of these, 14 were homozygous and truncating in GRM7, STX1A, CCAR2, EEF1D, GALNT2, SLC44A1, LRRIQ3, AMZ2, CLMN, SEC23IP, INIP, NARG2, FAM234B, and TRAP1. The diagnostic yield was higher in

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

    Science.gov (United States)

    Andrews, G; Pine, D S; Hobbs, M J; Anderson, T M; Sunderland, M

    2009-12-01

    DSM-IV and ICD-10 are atheoretical and largely descriptive. Although this achieves good reliability, the validity of diagnoses can be increased by an understanding of risk factors and other clinical features. In an effort to group mental disorders on this basis, five clusters have been proposed. We now consider the second cluster, namely neurodevelopmental disorders. We reviewed the literature in relation to 11 validating criteria proposed by a DSM-V Task Force Study Group. This cluster reflects disorders of neurodevelopment rather than a 'childhood' disorders cluster. It comprises disorders subcategorized in DSM-IV and ICD-10 as Mental Retardation; Learning, Motor, and Communication Disorders; and Pervasive Developmental Disorders. Although these disorders seem to be heterogeneous, they share similarities on some risk and clinical factors. There is evidence of a neurodevelopmental genetic phenotype, the disorders have an early emerging and continuing course, and all have salient cognitive symptoms. Within-cluster co-morbidity also supports grouping these disorders together. Other childhood disorders currently listed in DSM-IV share similarities with the Externalizing and Emotional clusters. These include Conduct Disorder, Attention Deficit Hyperactivity Disorder and Separation Anxiety Disorder. The Tic, Eating/Feeding and Elimination disorders, and Selective Mutisms were allocated to the 'Not Yet Assigned' group. Neurodevelopmental disorders meet some of the salient criteria proposed by the American Psychiatric Association (APA) to suggest a classification cluster.

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

    Science.gov (United States)

    2013-01-01

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

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

    Science.gov (United States)

    de Vries, Petrus J

    2010-07-01

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

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

    Science.gov (United States)

    Mizoguchi, Yoshito; Monji, Akira

    2017-01-01

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

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

    Science.gov (United States)

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

    2010-09-01

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

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

    Science.gov (United States)

    Fluegge, Keith

    2016-01-01

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

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

    Science.gov (United States)

    Sheppard, Loretta; Mudie, Heather; Froude, Elspeth

    2007-01-01

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

  10. Neurodevelopmental hypothesis of schizophrenia

    National Research Council Canada - National Science Library

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

    2011-01-01

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

  11. Effect of Neuroinflammation on Synaptic Organization and Function in the Developing Brain: Implications for Neurodevelopmental and Neurodegenerative Disorders

    Directory of Open Access Journals (Sweden)

    Amin Mottahedin

    2017-07-01

    Full Text Available The brain is a plastic organ where both the intrinsic CNS milieu and extrinsic cues play important roles in shaping and wiring neural connections. The perinatal period constitutes a critical time in central nervous system development with extensive refinement of neural connections, which are highly sensitive to fetal and neonatal compromise, such as inflammatory challenges. Emerging evidence suggests that inflammatory cells in the brain such as microglia and astrocytes are pivotal in regulating synaptic structure and function. In this article, we will review the role of glia cells in synaptic physiology and pathophysiology, including microglia-mediated elimination of synapses. We propose that activation of the immune system dynamically affects synaptic organization and function in the developing brain. We will discuss the role of neuroinflammation in altered synaptic plasticity following perinatal inflammatory challenges and potential implications for neurodevelopmental and neurodegenerative disorders.

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

    Science.gov (United States)

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

    2014-04-15

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

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

    Science.gov (United States)

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

    2013-04-24

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

  14. Neurodevelopmental Plasticity in Pre- and Postnatal Environmental Interactions: Implications for Psychiatric Disorders from an Evolutionary Perspective

    Directory of Open Access Journals (Sweden)

    Young-A Lee

    2015-01-01

    Full Text Available Psychiatric disorders are disadvantageous behavioral phenotypes in humans. Accordingly, a recent epidemiological study has reported decreased fecundity in patients with psychiatric disorders, such as schizophrenia and autism spectrum disorders. Moreover, the fecundity of the relatives of these patients is not exceedingly higher compared to the fecundity of the relatives of normal subjects. Collectively, the prevalence of psychiatric disorders among humans is expected to decrease over generations. Nevertheless, in reality, the prevalence rates of psychiatric disorders in humans either have been constant over a long period of time or have even increased more recently. Several attempts to explain this fact have been made using biological mechanisms, such as de novo gene mutations or variants, although none of these explanations is fully comprehensive. Here, we propose a hypothesis towards understanding the biological mechanisms of psychiatric disorders from evolutionary perspectives. This hypothesis considers that behavioral phenotypes associated with psychiatric disorders might have emerged in the evolution of organisms as a neurodevelopmental adaptation against adverse environmental conditions associated with stress.

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

    Science.gov (United States)

    Sukoff Rizzo, Stacey J; Crawley, Jacqueline N

    2017-02-08

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

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

    Science.gov (United States)

    Millan, Mark J

    2013-05-01

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

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

    Science.gov (United States)

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

    2015-10-01

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

  18. Sleep, Plasticity and the Pathophysiology of Neurodevelopmental Disorders: The Potential Roles of Protein Synthesis and Other Cellular Processes

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    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.

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

    Science.gov (United States)

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

    2016-03-01

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

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

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    Harms, Melanie D.

    2013-01-01

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

  1. BLOOD GROUPS AND AFFECTIVE DISORDERS

    OpenAIRE

    Reddy, P. Lakshmi; Puttaram, Sowbhagya; Rao, B.S. Sridhara Rama; Khanna, Sumant; Channabasavanna, S.M.

    1988-01-01

    SUMMARY An analysis was made of the distribution of various blood groups in subjects with affective disorders. A group of healthy subjects served as controls. The distribution showed lack of association of affective disorder and any blood groups.

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

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    Gustaf Waxegård

    2016-09-01

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

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

    Science.gov (United States)

    Waxegård, Gustaf; Thulesius, Hans

    2016-01-01

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

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

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    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

  5. [Etiology of affective disorders].

    Science.gov (United States)

    Shinohara, M; Kariya, T

    1994-05-01

    We discussed mainly neurochemical etiology of affective disorders (A.D.). Neurochemically, decreased 5-HT uptake in the platelet, increased 5-HT2 receptor in the platelet and cortex of suicides, increased beta receptor in the brains of suicide, functional abnormality of alpha 2 receptor in clonidine, DMI test, GABAB receptor up-regulation after chronic administration of antidepressants and mood stabilizers, participation of neuropeptide Y, and abnormality of HPA axis were recognized. Moreover, we referred to the importance of psychosocial and genetic factors. As for the etiology of A.D., while predisposition and environment participate, the method of participation will be different in subtypes. Frailty to stress in a broad sense, however is commonly seen in A.D. Though psychosocial factors are important, the physical condition, which involves fatigue, cannot be ignored. And, it is the most important that the biological and genetical factors which cause A.D., in the face of stimuli, must first be elucidated.

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

    Science.gov (United States)

    Gabriel, Elke; Gopalakrishnan, Jay

    2017-04-14

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

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

    Science.gov (United States)

    Harvey, Louise; Boksa, Patricia

    2012-10-01

    Epidemiological evidence has established links between immune activation during the prenatal or early postnatal period and increased risk of developing a range of neurodevelopment disorders in later life. Animal models have been used to great effect to explore the ramifications of immune activation during gestation and neonatal life. A range of behavioral, neurochemical, molecular, and structural outcome measures associated with schizophrenia, autism, cerebral palsy, and epilepsy have been assessed in models of prenatal and postnatal immune activation. However, the epidemiology-driven disease-first approach taken by some studies can be limiting and, despite the wealth of data, there is a lack of consensus in the literature as to the specific dose, timing, and nature of the immunogen that results in replicable and reproducible changes related to a single disease phenotype. In this review, we highlight a number of similarities and differences in models of prenatal and postnatal immune activation currently being used to investigate the origins of schizophrenia, autism, cerebral palsy, epilepsy, and Parkinson's disease. However, we describe a lack of synthesis not only between but also within disease-specific models. Our inability to compare the equivalency dose of immunogen used is identified as a significant yet easily remedied problem. We ask whether early life exposure to infection should be described as a disease-specific or general vulnerability factor for neurodevelopmental disorders and discuss the implications that either classification has on the design, strengths and limitations of future experiments. Copyright © 2012 Wiley Periodicals, Inc.

  8. 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.

  9. Mice lacking Brinp2 or Brinp3, or both, exhibit behaviours consistent with neurodevelopmental disorders

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    Susie Ruth Berkowicz

    2016-10-01

    Full Text Available Background: Brinps 1 – 3, and Astrotactins (Astn 1 and 2, are members of the Membrane Attack Complex / Perforin (MACPF superfamily that are predominantly expressed in the mammalian brain during development. Genetic variation at the human BRINP2/ASTN1 and BRINP1/ASTN2 loci has been implicated in neurodevelopmental disorders. We, and others, have previously shown that Brinp1-/- mice exhibit behaviour reminiscent of autism spectrum disorder (ASD and attention deficit hyperactivity disorder (ADHD.Method: We created Brinp2-/- mice and Brinp3-/- mice via the Cre-mediated LoxP system to investigate the effect of gene deletion on anatomy and behaviour. Additionally, Brinp2-/-Brinp3-/- double knock-out mice were generated by interbreeding Brinp2-/- and Brinp3-/- mice. Genomic validation was carried out for each knock-out line, followed by histological, weight and behavioural examination. Brinp1-/-Brinp2-/-Brinp3-/- triple knock-out mice were also generated by crossing Brinp2/3 double knock-out mice with previously generated Brinp1-/- mice, and examined by weight and histological analysis.Results: Brinp2-/- and Brinp3-/- mice differ in their behaviour: Brinp2-/- mice are hyperactive, whereas Brinp3-/- mice exhibit marked changes in anxiety-response on the elevated plus maze. Brinp3-/- mice also show evidence of altered sociability. Both Brinp2-/- and Brinp3-/- mice have normal short-term memory, olfactory responses, pre-pulse inhibition and motor learning. The double knock-out mice show behaviours of Brinp2-/- and Brinp3-/- mice, without evidence of new or exacerbated phenotypes. Conclusion: Brinp3 is important in moderation of anxiety, with potential relevance to anxiety disorders. Brinp2 dysfunction resulting in hyperactivity may be relevant to the association of ADHD with chromosome locus 1q25.2. Brinp2-/- and Brinp3-/- genes do not compensate in the mammalian brain and likely have distinct molecular or cell-type specific functions.

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

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    Magdalena Stania

    2017-11-01

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

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

    Science.gov (United States)

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

    2015-01-01

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

  12. Overcoming Seasonal Affective Disorder.

    Science.gov (United States)

    Leahy, Laura G

    2017-11-01

    Seasonal affective disorder (SAD) significantly impacts the lives of individuals around the world. The mood fluctuations that occur are not only exhibited during the winter months but also during the spring and summer. The key to identifying SAD is the distinct seasonal onset and spontaneous remission of symptoms over the course of a season. Nurses are in a unique position to identify the symptoms of SAD and offer treatment recommendations to reduce the negative impact of these seasonal mood fluctuations. As holistic health care practitioners, nurses provide patient education regarding healthy lifestyle interventions, which can aid in minimizing the disruptive symptoms of SAD. Advanced practice nurses can offer pharmacotherapy interventions to address symptoms contributing to the individual's inability to function across domains-individual, family, and social. Finally, after reading the article, nurses of all disciplines will have a better understanding of the evidence-based bright light therapy (also known as light box therapy) and how to incorporate this treatment when caring for patients with SAD. [Journal of Psychosocial Nursing and Mental Health Services, 55(11), 10-14.]. Copyright 2017, SLACK Incorporated.

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

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    Reut Gruber

    2016-01-01

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

  14. 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.

  15. 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.

  16. 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

  17. The Role of Noncoding RNAs in Neurodevelopmental Disorders: The Case of Rett Syndrome.

    Science.gov (United States)

    Obiols-Guardia, Aida; Guil, Sònia

    2017-01-01

    Current technologies have demonstrated that only a small fraction of our genes encode for protein products. The vast majority of the human transcriptome corresponds to noncoding RNA (ncRNA) of different size, localization, and expression profile. Despite the fact that a biological function remains yet to be determined for most ncRNAs, growing evidence points to their crucial regulatory roles at all stages in gene expression regulation, including transcriptional and posttranscriptional control, so that proper cell homeostasis seems to depend largely on a variety of ncRNA-mediated regulatory networks. This is particularly relevant in the human brain, which displays the richest repertoire of ncRNA species, and where several different ncRNA molecules are known to be involved in crucial steps for brain development and maturation. Rett syndrome is a neurodevelopmental disorder characterized by loss of function mutations in the X-linked gene encoding for methyl-CpG-binding protein 2 (MeCP2). MECP2 deficiency impacts globally on gene expression programs, mainly through its role as a transcriptional repressor, and growing data also points to an important dysregulation of the noncoding transcriptome in the disease. Here, we review the current knowledge on ncRNA alterations in Rett and explore links with other pathologies that might indicate the potential use of particular noncoding transcripts as therapeutical targets, tools, or disease biomarkers.

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

    Directory of Open Access Journals (Sweden)

    Andrew T Olagunju

    2017-01-01

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

  19. Learning Curve Analyses in Neurodevelopmental Disorders: Are Children with Autism Spectrum Disorder Truly Visual Learners?

    Science.gov (United States)

    Erdodi, Laszlo; Lajiness-O'Neill, Renee; Schmitt, Thomas A.

    2013-01-01

    Visual and auditory verbal learning using a selective reminding format was studied in a mixed clinical sample of children with autism spectrum disorder (ASD) (n = 42), attention-deficit hyperactivity disorder (n = 83), velocardiofacial syndrome (n = 17) and neurotypicals (n = 38) using the Test of Memory and Learning to (1) more thoroughly…

  20. [Affective disorders and impulsivity].

    Science.gov (United States)

    Belzeaux, R; Correard, N; Mazzola-Pomietto, P; Adida, M; Cermolacce, M; Azorin, J-M

    2014-12-01

    Impulsivity is a complex and important phenomenon in mood disorders. Impulse control disorders, as defined in DSM, are more frequent in mood disorders especially in Bipolar Disorder type I, and are associated with a more severe course of illness. Dimensional studies demonstrate that impulsivity is a core manifestation of bipolar disorder both as state- and trait-dependent markers in patients. Comorbid substance use disorders are often associated with a higher level of impulsivity whereas the relation between suicidal behaviors and higher impulsivity remains uncertain. Moreover, neuropsychological tests were used to study correlation between clinical impulsivity and laboratory measurements of impulsivity. Level of correlation remains weak and several explanations are proposed in the literature. Copyright © 2014 L’Encéphale. Published by Elsevier Masson SAS.. All rights reserved.

  1. Mood and affect disorders.

    Science.gov (United States)

    Tang, Michael H; Pinsky, Elizabeth G

    2015-02-01

    Depressive disorders are common in children and adolescents, with estimates for depressive episodes as high as 18.2% for girls and 7.7% for boys by age 17 years, and are a major cause of morbidity and even mortality. The primary care pediatrician should be able to (1) diagnose depressive disorders and use standardized instruments; (2) ask about suicide, self-harm, homicide, substance use, mania, and psychosis; (3) triage the severity of illness; (4) be aware of the differential diagnosis, including normal development, other depressive disorders, bipolar disorders, and comorbid disorders, such as anxiety and substance use; (5) refer to evidenced-based psychotherapies; (6) prescribe first-line medications; and (7) provide ongoing coordination in a medical home. Pediatric bipolar disorders and the new disruptive mood dysregulation disorder (DMDD) diagnoses are controversial but not uncommon, with prevalence estimates ranging from 0.8% to 4.3% in children at various ages. Although the pediatrician is not likely to be prescribing medications for children with bipolar disorder and DMDD diagnoses, all clinicians should be familiar with common neuroleptics and other mood stabilizers, including important potential adverse effects. Basic management of depressive and bipolar disorders is an important skill for primary care pediatricians. © American Academy of Pediatrics, 2015. All rights reserved.

  2. 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.

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

    Science.gov (United States)

    Sun, Jing; Buys, Nicholas

    2012-01-01

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

  4. Family psychoeducation for affective disorders

    DEFF Research Database (Denmark)

    Timmerby, Nina; Austin, Stephen; Bech, Per

    2017-01-01

    The aim of this article was to examine the evidence of family psychoeducation (FPE) for affective disorders. Evidence indicates that FPE can be an effective supplement to the standard treatment of patients with affective disorders. FPE can effectively reduce the patients' risk of relapse and reduce...

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

    Science.gov (United States)

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

    2017-10-21

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

  6. Gender Identity Disorder and Schizophrenia: Neurodevelopmental Disorders with Common Causal Mechanisms?

    Directory of Open Access Journals (Sweden)

    Ravi Philip Rajkumar

    2014-01-01

    Full Text Available Gender identity disorder (GID, recently renamed gender dysphoria (GD, is a rare condition characterized by an incongruity between gender identity and biological sex. Clinical evidence suggests that schizophrenia occurs in patients with GID at rates higher than in the general population and that patients with GID may have schizophrenia-like personality traits. Conversely, patients with schizophrenia may experience alterations in gender identity and gender role perception. Neurobiological research, including brain imaging and studies of finger length ratio and handedness, suggests that both these disorders are associated with altered cerebral sexual dimorphism and changes in cerebral lateralization. Various mechanisms, such as Toxoplasma infection, reduced levels of brain-derived neurotrophic factor (BDNF, early childhood adversity, and links with autism spectrum disorders, may account for some of this overlap. The implications of this association for further research are discussed.

  7. Gender Identity Disorder and Schizophrenia: Neurodevelopmental Disorders with Common Causal Mechanisms?

    Science.gov (United States)

    Rajkumar, Ravi Philip

    2014-01-01

    Gender identity disorder (GID), recently renamed gender dysphoria (GD), is a rare condition characterized by an incongruity between gender identity and biological sex. Clinical evidence suggests that schizophrenia occurs in patients with GID at rates higher than in the general population and that patients with GID may have schizophrenia-like personality traits. Conversely, patients with schizophrenia may experience alterations in gender identity and gender role perception. Neurobiological research, including brain imaging and studies of finger length ratio and handedness, suggests that both these disorders are associated with altered cerebral sexual dimorphism and changes in cerebral lateralization. Various mechanisms, such as Toxoplasma infection, reduced levels of brain-derived neurotrophic factor (BDNF), early childhood adversity, and links with autism spectrum disorders, may account for some of this overlap. The implications of this association for further research are discussed. PMID:25548672

  8. Gender identity disorder and schizophrenia: neurodevelopmental disorders with common causal mechanisms?

    Science.gov (United States)

    Rajkumar, Ravi Philip

    2014-01-01

    Gender identity disorder (GID), recently renamed gender dysphoria (GD), is a rare condition characterized by an incongruity between gender identity and biological sex. Clinical evidence suggests that schizophrenia occurs in patients with GID at rates higher than in the general population and that patients with GID may have schizophrenia-like personality traits. Conversely, patients with schizophrenia may experience alterations in gender identity and gender role perception. Neurobiological research, including brain imaging and studies of finger length ratio and handedness, suggests that both these disorders are associated with altered cerebral sexual dimorphism and changes in cerebral lateralization. Various mechanisms, such as Toxoplasma infection, reduced levels of brain-derived neurotrophic factor (BDNF), early childhood adversity, and links with autism spectrum disorders, may account for some of this overlap. The implications of this association for further research are discussed.

  9. Amelioration of fetal alcohol-related neurodevelopmental disorders in rats: exploring pharmacological and environmental treatments.

    Science.gov (United States)

    Hannigan, J H; Berman, R F

    2000-01-01

    Fetal alcohol syndrome (FAS) and alcohol-related neurodevelopmental disorders (ARNDs) in children are characterized by life-long compromises in learning, memory, and adaptive responses. Until the advent of effective prevention measures, it will remain necessary to seek ways to treat the life-long neurobehavioral consequences of prenatal alcohol exposure. To date, there are no clinical remedies to recommend for either specific or global fetal alcohol effects. This article reviews our basic research in animal models that assesses the potential of global environmental manipulations or specific psychopharmacological treatments to ameliorate the neurobehavioral effects of prenatal exposure to alcohol. Postweaning environmental enrichment can improve behavioral performance and ameliorate or even eliminate deficits in prenatal alcohol-exposed rats, although there is persistent impairment in neuronal plasticity, as indicated by the failure of hippocampal pyramidal cells to increase dendrite spine density. Behavioral and neural responses to CNS stimulants differ in rats exposed prenatally to alcohol, although it is not clear that these shifts in dose-response curves would predict benefit to children. Although the present results may sound a note of optimism for the development of effective treatment strategies for children with FAS or ARNDs, it is important to consider that application of these findings in rodents may not be straightforward. We also need to know the critical features of specific environments that influence brain development, and the limits of pharmacotherapy, as well as critical periods of exposure. Continued study of the beneficial, ameliorative effects of environmental enrichment, rehabilitative training, and of pharmacological therapies in animal models, will remain a valuable source of information for eventually devising treatments specific for children with FAS and ARNDs.

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

    Science.gov (United States)

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

    2014-01-01

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

  11. Seasonal Affective Disorder

    Science.gov (United States)

    ... look different in women, men, seniors, and children. Depression and College Students : This booklet describes what depression is, how it affects college students, and treatment options. Teen Depression : This flier for ...

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

    Science.gov (United States)

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

    2014-11-01

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

  13. Synapse dysfunction in autism: a molecular medicine approach to drug discovery in neurodevelopmental disorders.

    Science.gov (United States)

    Spooren, Will; Lindemann, Lothar; Ghosh, Anirvan; Santarelli, Luca

    2012-12-01

    Autism and autism spectrum disorders (ASDs) affect millions of individuals worldwide. Despite increased autism diagnoses over the past 30 years, therapeutic intervention is often 'trial and error'. This approach has identified some beneficial agents, but complex heterogeneous disorders require a more personalized treatment regimen. Many ASD risk factors are genetic, implicating impaired synaptic development and function. Monogenetic disorders (e.g., fragile X syndrome, Rett syndrome, and neurofibromatosis) that have phenotypic overlap with autism provide insights into ASD pathology through the identification novel drug targets (e.g., glutamatergic receptors). Encouragingly, some of these novel drug targets provide symptomatic improvement, even in patients who have lived with ASDs for protracted periods of time. Consequently, a targeted drug discovery approach is expected to deliver improved agents for the treatment and management of ASDs. Here, we review the opportunities and challenges in drug development for autism and provide insight into the neurobiology of ASDs. Copyright © 2012 Elsevier Ltd. All rights reserved.

  14. Skin disorders affecting the feet

    African Journals Online (AJOL)

    Skin disorders on the feet can affect the glabrous skin on the dorsal aspects, or the thick skin on the plantar aspects, thereof, or both. Some can affect one foot, and others both of them. These diseases can be inflammatory, genetically inherited, infectious and neoplastic in origin. It is important to identify them and to.

  15. Bipolar Affective Disorder and Migraine

    Directory of Open Access Journals (Sweden)

    Birk Engmann

    2012-01-01

    Full Text Available This paper consists of a case history and an overview of the relationship, aetiology, and treatment of comorbid bipolar disorder migraine patients. A MEDLINE literature search was used. Terms for the search were bipolar disorder bipolar depression, mania, migraine, mood stabilizer. Bipolar disorder and migraine cooccur at a relatively high rate. Bipolar II patients seem to have a higher risk of comorbid migraine than bipolar I patients have. The literature on the common roots of migraine and bipolar disorder, including both genetic and neuropathological approaches, is broadly discussed. Moreover, bipolar disorder and migraine are often combined with a variety of other affective disorders, and, furthermore, behavioural factors also play a role in the origin and course of the diseases. Approach to treatment options is also difficult. Several papers point out possible remedies, for example, valproate, topiramate, which acts on both diseases, but no first-choice treatments have been agreed upon yet.

  16. “Selfish spermatogonial selection”: a novel mechanism for the association between advanced paternal age and neurodevelopmental disorders

    Science.gov (United States)

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

    2014-01-01

    Objectives There is robust evidence from epidemiological studies that the offspring of older fathers have an increased risk of neurodevelopmental disorders such as schizophrenia and autism. Here we present a novel mechanism that may contribute to this association. Methods Narrative review. Results Because the male germ cell undergoes many more cell divisions across the reproductive age range, copy-errors taking place in the paternal germline are associated with de novo mutations in the offspring of older men. Recently it has been recognized that somatic mutations in male germ cells that modify proliferation via dysregulation of the RAS pathway can lead to within-testis expansion of mutant clonal lines. First identified in association with rare paternal age-effect disorders (e.g. Apert syndrome, achondroplasia), this process is known as ‘selfish spermatogonial selection’. This mechanism will (a) favor propagation of germ cells carrying pathogenic mutations, (b) increasingly skew the mutational profile of sperm as men age, and (c) result in an enrichment of de novo mutations in the offspring of older fathers that preferentially impact on specific cellular signaling pathways. This mechanism offers a parsimonious explanation not only for the association between advanced paternal age and various neurodevelopmental disorders, but also provides insights into the genetic architecture (role of de novo mutations), neurobiological correlates (altered cell cycle) and some epidemiological features of these disorders. We outline hypotheses to test this model. Conclusions In light of our current understanding of the genetic networks involved in neurocognitive disorders and the principles of selfish spermatogonial selection, we speculate that some pathogenic mutations associated with these disorders are the consequence of a selfish mechanism originating in the aging testis. Given the secular changes for delayed parenthood in most societies, this hypothesis has important public

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

    Science.gov (United States)

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

    2015-04-01

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

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

    Directory of Open Access Journals (Sweden)

    Dipasquale Filippo

    2009-06-01

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

  19. [Affective disorders and biological rhythms].

    Science.gov (United States)

    Le Strat, Y; Ramoz, N; Gorwood, P

    2008-06-01

    Disruptions of circadian rhythms are described in affective disorders, including unipolar and bipolar disorder, but also seasonal affective disorder. Sleep-wake and hormone circadian rhythms are among the most quoted examples. Depression could be conceptualized as a desynchronization between the endogenous circadian pacemaker and the exogenous stimuli, such as sunlight and social rhythms. Accordingly, Clock genes have been studied and the literature suggests that variants in these genes confer a higher risk of relapse, more sleep disturbances associated with depression, as well as incomplete treatment response. Most of therapeutic interventions in depression have an impact on biological rhythms. Some of them exclusively act via a biological pathway, such as sleep deprivation or light therapy. Some psychosocial interventions are specifically focusing on social rhythms, particularly in bipolar disorder, in which the promotion of stabilization is emphasized. Finally, all antidepressant medications could improve biological rhythms, but some new agents are now totally focusing this novel approach for the treatment of depression.

  20. 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.

  1. Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.

    Science.gov (United States)

    Rasmussen, Malene B; Nielsen, Jakob V; Lourenço, Charles M; Melo, Joana B; Halgren, Christina; Geraldi, Camila V L; Marques, Wilson; Rodrigues, Guilherme R; Thomassen, Mads; Bak, Mads; Hansen, Claus; Ferreira, Susana I; Venâncio, Margarida; Henriksen, Karen F; Lind-Thomsen, Allan; Carreira, Isabel M; Jensen, Niels A; Tommerup, Niels

    2014-09-01

    Recently, a number of patients have been described with structural rearrangements at 3q13.31, delineating a novel microdeletion syndrome with common clinical features including developmental delay and other neurodevelopmental disorders (NDD). A smallest region of overlapping deletions (SRO) involved five RefSeq genes, including the transcription factor gene ZBTB20 and the dopamine receptor gene DRD3, considered as candidate genes for the syndrome. We used array comparative genomic hybridization and next-generation mate-pair sequencing to identify key structural rearrangements involving ZBTB20 in two patients with NDD. In a patient with developmental delay, attention-deficit hyperactivity disorder, psychosis, Tourette's syndrome and autistic traits, a de novo balanced t(3;18) translocation truncated ZBTB20. The other breakpoint did not disrupt any gene. In a second patient with developmental delay and autism, we detected the first microdeletion at 3q13.31, which truncated ZBTB20 but did not involve DRD3 or the other genes within the previously defined SRO. Zbtb20 directly represses 346 genes in the developing murine brain. Of the 342 human orthologous ZBTB20 candidate target genes, we found 68 associated with NDD. Using chromatin immunoprecipitation and quantitative PCR, we validated the in vivo binding of Zbtb20 in evolutionary conserved regions in six of these genes (Cntn4, Gad1, Nrxn1, Nrxn3, Scn2a, Snap25). Our study links dosage imbalance of ZBTB20 to a range of neurodevelopmental, cognitive and psychiatric disorders, likely mediated by dysregulation of multiple ZBTB20 target genes, and provides new knowledge on the genetic background of the NDD seen in the 3q13.31 microdeletion syndrome. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  2. Treatment of seasonal affective disorders

    Science.gov (United States)

    Praschak-Rieder, Nicole; Willeit, Matthäus

    2003-01-01

    Seasonal affective disorder (SAD) is a subform of major depressive disorder, recurrent, or bipolar disorder with a regular onset of depressive episodes at a certain time of year, usually the winter. The treatment of SAD is similar to that of other forms of affective disorder, except that bright light therapy is recommended as the first-line option. Light therapy conventionally involves exposure to visible light of at least 2500 lux intensity at eye level. The effects of light therapy are thought to be mediated exclusively by the eyes, not the skin, although this assumption has not yet been verified. Morning light therapy has proven to be superior to treatment regimens in the evening. Response rates to light therapy are about 80% in selected patient populations, with atypical depressive symptoms being the best predictor of a favorable treatment outcome. Data from randomized, controlled trials suggest that antidepressants are effective in the treatment of SAD. Three double-blind, placebo-controlled trials have been conducted showing promising results for the selective serotonin reuptake inhibitors (SSRIs) sertraline and fluoxetine, as well as for moclobemide, a reversible inhibitor of monoamine oxidase A. PMID:22033639

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

    DEFF Research Database (Denmark)

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

    2012-01-01

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

  4. A rapid chemical-genetic screen utilizing impaired movement phenotypes in C. elegans: Input into genetics of neurodevelopmental disorders.

    Science.gov (United States)

    Schmeisser, Kathrin; Fardghassemi, Yasmin; Parker, J Alex

    2017-07-01

    Autism spectrum disorder (ASD) is the most common neurodevelopmental disorder with a constantly increasing prevalence. Model organisms may be tools to identify underlying cellular and molecular mechanisms, as well as aid the discovery and development of novel therapeutic approaches. A simple animal such as the nematode Caenorhabditis elegans may provide insights into the extreme complexity of ASD genetics. Despite its potential, using C. elegans in ASD research is a controversial approach and has not yet been used extensively in this context. In this study, we present a screening approach of potential C. elegans mutants as potential ASD models. We screened these mutants for motor-deficiency phenotypes, which can be exploited to study underlying mechanisms of the disorder. Selected motor-deficient mutants were then used in a comprehensive drug screen of over 3900 compounds, including many FDA-approved and natural molecules, that were analyzed for their ability to suppress motility defects caused by ASD-associated gene orthologues. This genetic-chemical approach, i.e. establishing C. elegans models for ASD and screening of a well-characterized compound library, might be a promising first step to understand the mechanisms of how gene variations cause neuronal dysfunction, leading to ASD and other neurological disorders. Positively acting compounds could also be promising candidates for preclinical studies. Copyright © 2017 Elsevier Inc. All rights reserved.

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

    Directory of Open Access Journals (Sweden)

    David A. Geier

    2014-09-01

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

  6. Children with neurodevelopmental disorders and disabilities: a population-based study of healthcare service utilization using administrative data.

    Science.gov (United States)

    Arim, Rubab G; Miller, Anton R; Guèvremont, Anne; Lach, Lucyna M; Brehaut, Jamie C; Kohen, Dafna E

    2017-12-01

    The aim of this study was to identify children with neurodevelopmental disorders and disabilities (NDD/D) and compare their healthcare service utilization to children without NDD/D using provincial linked administrative data. The sample included children aged 6 to 10 years (n=183 041), who were registered with the British Columbia Medical Services Plan. Diagnostic information was used for the identification and classification of NDD/D in six functional domains. Healthcare service utilization included outcomes based on physician claims, prescription medication use, and hospitalization. Overall, 8.3% of children were identified with NDD/D. Children with NDD/D had higher healthcare service utilization rates than those without NDD/D. Effect sizes were: very large for the number of days a prescription medication was dispensed; large for the number of prescriptions; medium for the number of physician visits, different specialists visited, number of different prescription medications, and ever hospitalized; and small for the number of laboratory visits, X-ray visits, and number of days hospitalized. The findings have policy implications for service and resource planning. Given the high use of psychostimulants, specialized services for both NDD/D and psychiatric conditions may be the most needed services for children with NDD/D. Future studies may examine patterns of physician behaviours and costs attributable to healthcare service utilization for children with NDD/D. Children with neurodevelopmental disorders and disabilities (NDD/D) have higher healthcare service utilization than those without. Based on provincial population-based linked administrative health data, a sizeable number of children are living with NDD/D. Given the high use of psychostimulants, specialized services for children with both NDD/D and psychiatric conditions may be the most needed services for children with NDD/D. © 2017 Mac Keith Press.

  7. The European Prader-Willi Syndrome Clinical Research Database: An Aid in the Investigation of a Rare Genetically Determined Neurodevelopmental Disorder

    Science.gov (United States)

    Holland, A.; Whittington, J.; Cohen, O.; Curfs, L.; Delahaye, F.; Dudley, O.; Horsthemke, B.; Lindgren, A. -C.; Nourissier, C.; Sharma, N.; Vogels, A.

    2009-01-01

    Background: Prader-Willi Syndrome (PWS) is a rare genetically determined neurodevelopmental disorder with a complex phenotype that changes with age. The rarity of the syndrome and the need to control for different variables such as genetic sub-type, age and gender limits clinical studies of sufficient size in any one country. A clinical research…

  8. Responding to Requests of Families for Unproven Interventions in Neurodevelopmental Disorders: Hyperbaric Oxygen "Treatment" and Stem Cell "Therapy" in Cerebral Palsy

    Science.gov (United States)

    Bell, Emily; Wallace, Tessa; Chouinard, Isabelle; Shevell, Michael; Racine, Eric

    2011-01-01

    Faced with the limitations of currently available mainstream medical treatments and interventions, parents of children with neurodevelopmental disorders often seek information about unproven interventions. These interventions frequently have undetermined efficacy and uncertain safety profiles. In this article, we present a general background and…

  9. The Analysis of Genetic Aberrations in Children with Inherited Neurometabolic and Neurodevelopmental Disorders

    Directory of Open Access Journals (Sweden)

    Krystyna Szymańska

    2014-01-01

    Full Text Available Inherited encephalopathies include a broad spectrum of heterogeneous disorders. To provide a correct diagnosis, an integrated approach including genetic testing is warranted. We report seven patients with difficult to diagnose inborn paediatric encephalopathies. The diagnosis could not be attained only by means of clinical and laboratory investigations and MRI. Additional genetic testing was required. Cytogenetics, PCR based tests, and array-based comparative genome hybridization were performed. In 4 patients with impaired language abilities we found the presence of microduplication in the region 16q23.1 affecting two dose-sensitive genes: WWOX (OMIM 605131 and MAF (OMIM 177075 (1 case, an interstitial deletion of the 17p11.2 region (2 patients further diagnosed as Smith-Magenis syndrome, and deletion encompassing first three exons of Myocyte Enhancer Factor gene 2MEF2C (1 case. The two other cases represented progressing dystonia. Characteristic GAG deletion in DYT1 consistently with the diagnosis of torsion dystonia was confirmed in 1 case. Last enrolled patient presented with clinical picture consistent with Krabbe disease confirmed by finding of two pathogenic variants of GALC gene and the absence of mutations in PSAP. The integrated diagnostic approach including genetic testing in selected examples of complicated hereditary diseases of the brain is largely discussed in this paper.

  10. Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome

    OpenAIRE

    Hempel, A.; Pagnamenta, A.T.; Blyth, M; Mansour, S; McConnell, V; Kou, I; Ikegawa, S.; Tsurusaki, Y.; Matsumoto, N.; Lo-Castro, A.; Plessis, G; Albrecht, B; Battaglia, A.; Taylor, J C; Howard, M. F.

    2016-01-01

    Background \\ud \\ud SOX11 is a transcription factor proposed to play a role in brain development. The relevance of SOX11 to human developmental disorders was suggested by a recent report of SOX11 mutations in two patients with Coffin–Siris syndrome. Here we further investigate the role of SOX11 variants in neurodevelopmental disorders.\\ud \\ud Methods \\ud \\ud We used array based comparative genomic hybridisation and trio exome sequencing to identify children with intellectual disability who hav...

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

    Science.gov (United States)

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

    2016-02-01

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

  12. Light Therapy Boxes for Seasonal Affective Disorder

    Science.gov (United States)

    Seasonal affective disorder treatment: Choosing a light therapy box Light therapy boxes can offer an effective treatment for seasonal affective disorder. Features such as light intensity, safety, cost and ...

  13. Further evidence that some male-based neurodevelopmental disorders are associated with high intrauterine testosterone concentrations.

    Science.gov (United States)

    James, William H

    2008-01-01

    It has been suggested that reading disability (RD), autism spectrum disorder (ASD), and attention-deficit-hyperactivity disorder (ADHD) share a measure of genetic overlap. They also share some epidemiological features, and have all been suspected of multifactorial (genetic and environmental) threshold origins. It has also been hypothesized that ASD, pervasive developmental disorder - not otherwise specified, and ADHD are partially caused by high maternal intrauterine testosterone levels. Here I offer a new method of testing this latter hypothesis on some of these disorders (RD, ADHD, and ASD). All these disorders occur more commonly in males. If the intrauterine testosterone hypothesis was correct, then probands should have a statistically significant excess of brothers among their siblings. Data are adduced here to test this. When treated as individual disorders, the data are significant only in the case of RD. However, the data are highly significant when pooled as RD + ADHD or RD + ADHD + ASD. Taken alone, the data on ASD are not significant. These results suggest that: (1) taxonomically, RD and ADHD are moresimilar to one another than either is to ASD; and (2) probands in the pooled samples have a very highly significant excess of brothers. This result stands in need of explanation. Provisionally, the data may be interpreted as suggesting that RD may be caused by high intrauterine testosterone levels, and confirming the hypothesis that ADHD is partially caused by high intrauterine testosterone.

  14. [Prevalence of neurodevelopmental, behavioural and learning disorders in Pediatric Primary Care].

    Science.gov (United States)

    Carballal Mariño, Marta; Gago Ageitos, Ana; Ares Alvarez, Josefa; Del Rio Garma, Mercedes; García Cendón, Clara; Goicoechea Castaño, Ana; Pena Nieto, Josefina

    2017-11-20

    To determine the prevalence of psychiatric disorders in primary care pediatrics in Atlantic Galicia. An observational, descriptive, cross-sectional prevalence study was carried out in 9 outpatient clinics in A Coruña and Pontevedra with a population of 8293 children between September and November 2015. A total of 1286 randomly selected patients from 0 to 14 years of age were included. From the medical history was registered: age, sex, psychiatric diagnosis established by DSM-IV-TR criteria in its five axes, professionals who participated in the diagnosis and treatment of the process and what type of treatment was received. Authorization was obtained from the Research Ethics Committee of Galicia number 2015/427. 148 of 1286 patients presented psychiatric pathology (11,5% IC 95% 9.73-13,29), 68% male. Between 0 and 5years, the prevalence was 4.5%; between 6y and 10y, 18.5% and between 11y and 14y 22%. Symptoms lasted a median of 25 months. The most frequent pathologies in 1286 patients were ADHD (5.36%), language disorders (3.42%), learning disorders (3.26%), anxiety-depressive disorders (2.4%) and behavior disorders (1.87%). Of the 148 cases, 47% had comorbidity with another mental disorder. Most of them required attention by multiple social, health and educational professionals; 33% received psychopharmacological treatment. The prevalence of psychiatric disorders in pediatric primary care is frequent, chronic and complex, increases with age and requires many health, educational and social resources. Copyright © 2017. Publicado por Elsevier España, S.L.U.

  15. Imitation and "Theory of Mind" Competencies in Discrimination of Autism from Other Neurodevelopmental Disorders

    Science.gov (United States)

    Perra, Oliver; Williams, Justin H. G.; Whiten, Andrew; Fraser, Lesley; Benzie, Helen; Perrett, David I.

    2008-01-01

    Several studies have reported imitative deficits in autism spectrum disorder (ASD). However, it is still debated if imitative deficits are specific to ASD or shared with clinical groups with similar mental impairment and motor difficulties. We investigated whether imitative tasks can be used to discriminate ASD children from typically developing…

  16. Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders

    NARCIS (Netherlands)

    Iqbal, Z.; Vandeweyer, G.; Voet, M. van der; Waryah, A.M.; Zahoor, M.Y.; Besseling, J.A.; Roca, L.T.; Silfhout, A.T. van; Nijhof, B.; Kramer, J.M.; Aa, N. van der; Ansar, M.; Peeters, H.; Helsmoortel, C.; Gilissen, C.F.H.A.; Vissers, L.E.L.M.; Veltman, J.A.; Brouwer, A.P.M. de; Kooy, R. van; Riazuddin, S.; Schenck, A.; Bokhoven, H. van; Rooms, L.

    2013-01-01

    AnkyrinG, encoded by the ANK3 gene, is involved in neuronal development and signaling. It has previously been implicated in bipolar disorder and schizophrenia by association studies. Most recently, de novo missense mutations in this gene were identified in autistic patients. However, the causative

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

    Science.gov (United States)

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

    2016-09-01

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

  18. Public health and research funding for childhood neurodevelopmental disorders in Sub-Saharan Africa: a time to balance priorities.

    Science.gov (United States)

    Bakare, Muideen O; Munir, Kerim M; Bello-Mojeed, Mashudat A

    2014-01-01

    Sub-Saharan African (SSA) population consists of about 45% children, while in Europe and North America children population is 10-15%. Lately, attention has been directed at mitigating childhood infectious and communicable diseases to reduce under-five mortality. As the under-five mortality index in Sub-Saharan Africa has relatively improved over the last two decades, more Sub-Saharan African children are surviving beyond the age of five and, apparently, a sizeable percentage of this population would be living with one or more childhood neurodevelopmental disorders (NDD). The distribution of child mental health service resources across the world is unequal. This manifests in the treatment gap of major childhood onset mental health problems in SSA, with the gap being more pronounced for childhood NDD. It is important to balance the public health focus and research funding priorities in Sub-Saharan Africa. We urgently need to define the burden of childhood NDD in the region for healthcare planning and policy formulation.

  19. Public health and research funding for childhood neurodevelopmental disorders in Sub-Saharan Africa: a time to balance priorities

    Directory of Open Access Journals (Sweden)

    Muideen O. Bakare

    2014-01-01

    Full Text Available Sub-Saharan African (SSA population consists of about 45% children, while in Europe and North America children population is 10- 15%. Lately, attention has been directed at mitigating childhood infectious and communicable diseases to reduce under-five mortality. As the under-five mortality index in Sub-Saharan Africa has relatively improved over the last two decades, more Sub-Saharan African children are surviving beyond the age of five and, apparently, a sizeable percentage of this population would be living with one or more childhood neurodevelopmental disorders (NDD. The distribution of child mental health service resources across the world is unequal. This manifests in the treatment gap of major childhood onset mental health problems in SSA, with the gap being more pronounced for childhood NDD. It is important to balance the public health focus and research funding priorities in Sub-Saharan Africa. We urgently need to define the burden of childhood NDD in the region for healthcare planning and policy formulation.

  20. Narrative retelling in children with neurodevelopmental disorders: is there a role for nonverbal temporal-sequencing skills?

    Science.gov (United States)

    Johnels, Jakob Åsberg; Hagberg, Bibbi; Gillberg, Christopher; Miniscalco, Carmela

    2013-10-01

    Oral narrative retelling is often problematic for children with communicative and neurodevelopmental disorders. However, beyond a suggested role of language level, little is known about the basis of narrative performance. In this study we examine whether oral narrative retelling might be associated not just with language level but also with skills related to nonverbal narrative temporal sequencing. A diagnostically heterogeneous sample of Swedish-speaking children with a full scale IQ >70 was included in the study (N = 55; age 6-9 years). Narrative retelling skills were measured using the three subscores from the bus story test (BST). Independent predictors included (1) temporal sequencing skills according to a picture arrangement test and (2) a language skills factor consisting of definitional vocabulary and receptive grammar. Regression analyses show that language skills predicted BST Sentence Length and Subordinate Clauses subscores, while both temporal sequencing and language were independently linked with the BST Information subscore. When subdividing the sample based on nonverbal temporal sequencing level, a significant subgroup difference was found only for BST Information. Finally, a principal component analysis shows that temporal sequencing and BST Information loaded on a common factor, separately from the language measures. It is concluded that language level is an important correlate of narrative performance more generally in this diagnostically heterogeneous sample, and that nonverbal temporal sequencing functions are important especially for conveying story information. Theoretical and clinical implications are discussed. © 2013 The Scandinavian Psychological Associations.

  1. Modulation of GABAergic transmission in development and neurodevelopmental disorders: investigating physiology and pathology to gain therapeutic perspectives.

    Science.gov (United States)

    Deidda, Gabriele; Bozarth, Ignacio F; Cancedda, Laura

    2014-01-01

    During mammalian ontogenesis, the neurotransmitter GABA is a fundamental regulator of neuronal networks. In neuronal development, GABAergic signaling regulates neural proliferation, migration, differentiation, and neuronal-network wiring. In the adult, GABA orchestrates the activity of different neuronal cell-types largely interconnected, by powerfully modulating synaptic activity. GABA exerts these functions by binding to chloride-permeable ionotropic GABAA receptors and metabotropic GABAB receptors. According to its functional importance during development, GABA is implicated in a number of neurodevelopmental disorders such as autism, Fragile X, Rett syndrome, Down syndrome, schizophrenia, Tourette's syndrome and neurofibromatosis. The strength and polarity of GABAergic transmission is continuously modulated during physiological, but also pathological conditions. For GABAergic transmission through GABAA receptors, strength regulation is achieved by different mechanisms such as modulation of GABAA receptors themselves, variation of intracellular chloride concentration, and alteration in GABA metabolism. In the never-ending effort to find possible treatments for GABA-related neurological diseases, of great importance would be modulating GABAergic transmission in a safe and possibly physiological way, without the dangers of either silencing network activity or causing epileptic seizures. In this review, we will discuss the different ways to modulate GABAergic transmission normally at work both during physiological and pathological conditions. Our aim is to highlight new research perspectives for therapeutic treatments that reinstate natural and physiological brain functions in neuro-pathological conditions.

  2. Modulation of GABAergic Transmission in Development and Neurodevelopmental Disorders: Investigating Physiology and Pathology to Gain Therapeutic Perspectives

    Directory of Open Access Journals (Sweden)

    Gabriele eDeidda

    2014-05-01

    Full Text Available During mammalian ontogenesis, the neurotransmitter GABA is a fundamental regulator of neuronal networks. In neuronal development, GABAergic signaling regulates neural proliferation, migration, differentiation, and neuronal-network wiring. In the adult, GABA orchestrates the activity of different neuronal cell-types largely interconnected, by powerfully modulating synaptic activity. GABA exerts these functions by binding to chloride-permeable ionotropic GABAA receptors and metabotropic GABAB receptors. According to its functional importance during development, GABA is implicated in a number of neurodevelopmental disorders such as autism, Fragile X, Rett syndrome, Down syndrome, schizophrenia, Tourette's syndrome and neurofibromatosis.The strength and polarity of GABAergic transmission is continuously modulated during physiological, but also pathological conditions. For GABAergic transmission through GABAA receptors, strength regulation is achieved by different mechanisms such as modulation of GABAA receptors themselves, variation of intracellular chloride concentration, and alteration in GABA metabolism. In the never-ending effort to find possible treatments for GABA-related neurological diseases, of great importance would be modulating GABAergic transmission in a safe and possibly physiological way, without the dangers of either silencing network activity or causing epileptic seizures. In this review, we will discuss the different ways to modulate GABAergic transmission normally at work both during physiological and pathological conditions. Our aim is to highlight new research perspectives for therapeutic treatments that reinstate natural and physiological brain functions in neuro-pathological conditions.

  3. Affective disorders among patients with borderline personality disorder.

    Science.gov (United States)

    Sjåstad, Hege Nordem; Gråwe, Rolf W; Egeland, Jens

    2012-01-01

    The high co-occurrence between borderline personality disorder and affective disorders has led many to believe that borderline personality disorder should be considered as part of an affective spectrum. The aim of the present study was to examine whether the prevalence of affective disorders are higher for patients with borderline personality disorder than for patients with other personality disorders. In a national cross-sectional study of patients receiving mental health treatment in Norway (N = 36 773), we determined whether psychiatric outpatients with borderline personality disorder (N = 1 043) had a higher prevalence of affective disorder in general, and whether they had an increased prevalence of depression, bipolar disorder or dysthymia specifically. They were compared to patients with paranoid, schizoid, dissocial, histrionic, obsessive-compulsive, avoidant, dependent, or unspecified personality disorder, as well as an aggregated group of patients with personality disorders other than the borderline type (N = 2 636). Odds ratios were computed for the borderline personality disorder group comparing it to the mixed sample of other personality disorders. Diagnostic assessments were conducted in routine clinical practice. More subjects with borderline personality disorder suffered from unipolar than bipolar disorders. Nevertheless, borderline personality disorder had a lower rate of depression and dysthymia than several other personality disorder groups, whereas the rate of bipolar disorder tended to be higher. Odds ratios showed 34% lower risk for unipolar depression, 70% lower risk for dysthymia and 66% higher risk for bipolar disorder in patients with borderline personality disorder compared to the aggregated group of other personality disorders. The results suggest that borderline personality disorder has a stronger association with affective disorders in the bipolar spectrum than disorders in the unipolar spectrum. This association may reflect

  4. Affective disorders among patients with borderline personality disorder.

    Directory of Open Access Journals (Sweden)

    Hege Nordem Sjåstad

    Full Text Available BACKGROUND: The high co-occurrence between borderline personality disorder and affective disorders has led many to believe that borderline personality disorder should be considered as part of an affective spectrum. The aim of the present study was to examine whether the prevalence of affective disorders are higher for patients with borderline personality disorder than for patients with other personality disorders. METHODS: In a national cross-sectional study of patients receiving mental health treatment in Norway (N = 36 773, we determined whether psychiatric outpatients with borderline personality disorder (N = 1 043 had a higher prevalence of affective disorder in general, and whether they had an increased prevalence of depression, bipolar disorder or dysthymia specifically. They were compared to patients with paranoid, schizoid, dissocial, histrionic, obsessive-compulsive, avoidant, dependent, or unspecified personality disorder, as well as an aggregated group of patients with personality disorders other than the borderline type (N = 2 636. Odds ratios were computed for the borderline personality disorder group comparing it to the mixed sample of other personality disorders. Diagnostic assessments were conducted in routine clinical practice. RESULTS: More subjects with borderline personality disorder suffered from unipolar than bipolar disorders. Nevertheless, borderline personality disorder had a lower rate of depression and dysthymia than several other personality disorder groups, whereas the rate of bipolar disorder tended to be higher. Odds ratios showed 34% lower risk for unipolar depression, 70% lower risk for dysthymia and 66% higher risk for bipolar disorder in patients with borderline personality disorder compared to the aggregated group of other personality disorders. CONCLUSIONS: The results suggest that borderline personality disorder has a stronger association with affective disorders in the bipolar spectrum than

  5. Affective Disorders among Patients with Borderline Personality Disorder

    Science.gov (United States)

    Sjåstad, Hege Nordem; Gråwe, Rolf W.; Egeland, Jens

    2012-01-01

    Background The high co-occurrence between borderline personality disorder and affective disorders has led many to believe that borderline personality disorder should be considered as part of an affective spectrum. The aim of the present study was to examine whether the prevalence of affective disorders are higher for patients with borderline personality disorder than for patients with other personality disorders. Methods In a national cross-sectional study of patients receiving mental health treatment in Norway (N = 36 773), we determined whether psychiatric outpatients with borderline personality disorder (N = 1 043) had a higher prevalence of affective disorder in general, and whether they had an increased prevalence of depression, bipolar disorder or dysthymia specifically. They were compared to patients with paranoid, schizoid, dissocial, histrionic, obsessive-compulsive, avoidant, dependent, or unspecified personality disorder, as well as an aggregated group of patients with personality disorders other than the borderline type (N = 2 636). Odds ratios were computed for the borderline personality disorder group comparing it to the mixed sample of other personality disorders. Diagnostic assessments were conducted in routine clinical practice. Results More subjects with borderline personality disorder suffered from unipolar than bipolar disorders. Nevertheless, borderline personality disorder had a lower rate of depression and dysthymia than several other personality disorder groups, whereas the rate of bipolar disorder tended to be higher. Odds ratios showed 34% lower risk for unipolar depression, 70% lower risk for dysthymia and 66% higher risk for bipolar disorder in patients with borderline personality disorder compared to the aggregated group of other personality disorders. Conclusions The results suggest that borderline personality disorder has a stronger association with affective disorders in the bipolar spectrum than disorders in the unipolar

  6. Role of serotonin in seasonal affective disorder.

    Science.gov (United States)

    Gupta, A; Sharma, P K; Garg, V K; Singh, A K; Mondal, S C

    2013-01-01

    This review was prepared with an aim to show role of serotonin in seasonal affective disorder. Seasonal affective disorder, which is also called as winter depression or winter blues, is mood disorder in which persons with normal mental health throughout most of the year will show depressive symptoms in the winter or, less commonly, in the summer. Serotonin is an important endogenous neurotransmitter which also acts as neuromodulator. The least invasive, natural, and researched treatment of seasonal affective disorder is natural or otherwise is light therapy. Negative air ionization, which acts by liberating charged particles on the sleep environment, has also become effective in treatment of seasonal affective disorder.  

  7. Altered Placental Tryptophan Metabolism: A Crucial Molecular Pathway for the Fetal Programming of Neurodevelopmental Disorders

    Science.gov (United States)

    2014-07-01

    notwithstanding any other provision of law, no person shall be subject to any penalty for failing to comply with a collection of information if it does...disorders such as ASD. 15. SUBJECT TERMS Autism, placenta, tryptophan, serotonin, kynurenine, maternal immune activation, fetal brain 16...Several reference genes were tested, and TPB was found to be the most stable between treatment groups and time points in our samples. In order for

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

    OpenAIRE

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

    2014-01-01

    Anthropogenic release of pollutants into the environment is especially harmful to growing fetuses and young children. These populations are at an increased risk of damage because exposure to pollutants during critical periods of development can cause many impairments. Children’s exposure to mixtures of metals could be responsible for the rising numbers of neurological disorders surfacing in Iraqi children. Titanium (Ti) and magnesium (Mg) are heavily used in war industries. Exposure to Ti and...

  9. Sleep disorders in children with cerebral palsy: neurodevelopmental and behavioral correlates.

    Science.gov (United States)

    Romeo, Domenico M; Brogna, Claudia; Quintiliani, Michela; Baranello, Giovanni; Pagliano, Emanuela; Casalino, Tiziana; Sacco, Annalisa; Ricci, Daniela; Mallardi, Maria; Musto, Elisa; Sivo, Serena; Cota, Francesco; Battaglia, Domenica; Bruni, Oliviero; Mercuri, Eugenio

    2014-02-01

    We aimed to estimate the frequency of sleep disorders in children with cerebral palsy (CP) using the Sleep Disturbance Scale for Children (SDSC) and to evaluate the relations between sleep disorders and motor, cognitive, and behavioral problems. One hundred and sixty-five children with CP ages 6-16 years (mean age, 11years) were assessed using the SDSC, the Gross Motor Function Classification System (GMFCS), the Wechsler Intelligence Scale for Children and the Child Behavior Check List (CBCL) to assess sleep, motor, cognitive, and behavioral problems, respectively. An abnormal total sleep score was found in 19% of children with CP; more than 40% of children had an abnormal score on at least one SDSC factor. The SDSC total score was significantly associated (P<.01) with mental retardation, epilepsy, CBCL scores, and level 5 on the GMFCS. Our results confirm that sleep disorders are common in children with cerebral palsy. The relationship between motor and cognitive behavior and epilepsy should be further explored to better understand how these factors influence one another to identify effective treatments and to improve the well-being of the child. Copyright © 2014 Elsevier B.V. All rights reserved.

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

    Science.gov (United States)

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

    2013-08-06

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

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

    Science.gov (United States)

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

    2013-01-01

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

  12. 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.

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

    DEFF Research Database (Denmark)

    Carpente, John; Manne, Stela; Gattino, Gustavo

    2018-01-01

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

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

    Science.gov (United States)

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

    2018-03-01

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

  15. Heritability of bipolar affective disorder: Family study

    Directory of Open Access Journals (Sweden)

    Obradović Tanja

    2011-01-01

    Full Text Available Background/Aim. Bipolar affective disorder is mental disorder with polygenic type of heredity. Heritability - relation between genetic and environmental variance is used to estimate the level of influence of genetic variance to phenotype variance. Study results show decreasing trend in the value of heritability of bipolar affective disorder, thus indicating that this disorder is a complex behavioral threshold characteristic. Therefore, the aim of this study was to estimate the contribution of genetic variance to phenotype variance of bipolar affective disorder, i.e. to estimate heritability of this disorder. Methods. By the use of a questionnaire, 80 patients with over crossed threshold for bipolar affective disorder were asked for functional information about the members of their families belonging to the first degree of relation (fathers, mothers and full- sibs. By using ”Applet for calculating heritability for threshold traits (disease“, and regression analysis, heritability of bipolar affective disorder as well as its statistical significance, were estimated (χ2 test. Results. Heritability and relationship of genetic and environmental variance of bipolar affective disorder is 0.2 with statistically significant difference from zero (p < 0.001. Conclusion. The estimated contribution of genetic variance to phenotype variance of bipolar affective disorder is low being 20%, while the contribution of environmental variance is 80%. This result contributes to the understanding of bipolar affective disorder as a complex behavioral threshold trait.

  16. Sleep in children with neurodevelopmental disabilities.

    Science.gov (United States)

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

    2015-06-01

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

  17. Attention and working memory training: A feasibility study in children with neurodevelopmental disorders.

    Science.gov (United States)

    Kerns, Kimberly A; Macoun, Sarah; MacSween, Jenny; Pei, Jacqueline; Hutchison, Marnie

    2017-01-01

    The current study investigated the efficacy of a game-based process specific intervention for improving attention and working memory in children with Fetal Alcohol Spectrum Disorders (FASD) and Autism Spectrum Disorders (ASD). The Caribbean Quest (CQ) is a 'serious game' that consists of five hierarchically structured tasks, delivered in an adaptive format, targeting different aspects of attention and/or working memory. In addition to game play, the intervention incorporates metacognitive strategies provided by trained educational assistants (EAs), to facilitate generalization and far transfer to academic and daily skills. EAs delivered the intervention to children (ages 6-13) during their regular school day, providing children with instruction in metacognitive strategies to improve game play, with participants completing approximately 12 hours of training over an 8 to 12 school week period. Pre- and post-test analyses revealed significant improvement on measures of working memory and attention, including reduced distractibility and improved divided attention skills. Additionally, children showed significant gains in performance on an academic measure of reading fluency, suggesting that training-related gains in attention and working memory transferred to classroom performance. Exit interviews with EAs revealed that the intervention was easily delivered within the school day, that children enjoyed the intervention, and that children transferred metacognitive strategies learned in game play into the classroom. Preliminary results support this game-based process specific intervention as a potentially effective treatment and useful tool for supporting cognitive improvements in children with FASD or ASD, when delivered as part of an overall treatment plan.

  18. Child functional characteristics explain child and family outcomes better than diagnosis: Population-based study of children with autism or other neurodevelopmental disorders/disabilities.

    Science.gov (United States)

    Miller, Anton; Shen, Jane; Mâsse, Louise C

    2016-06-15

    Allocation of resources for services and supports for children with neurodevelopmental disorders/disabilities (NDD/D) is often based on the presence of specific health conditions. This study investigated the relative roles of a child's diagnosed health condition and neurodevelopmental and related functional characteristics in explaining child and family health and well-being. The data on children with NDD/D (ages 5 to 14; weighted n = 120,700) are from the 2006 Participation and Activity Limitation Survey (PALS), a population-based Canadian survey of parents of children with functional limitations/disabilities. Direct and indirect effects of child diagnosis status-autism spectrum disorder (ASD)/not ASD-and functional characteristics (particularly, ASD-related impairments in speech, cognition, and emotion and behaviour) on child participation and family health and well-being were investigated in a series of structural equation models, while controlling for covariates. All models adequately fitted the data. Child ASD diagnosis was significantly associated with child participation and family health and well-being. When ASD-related child functional characteristics were added to the model, all direct effects from child diagnosis on child and family outcomes disappeared; the effect of child diagnosis on child and family outcomes was fully mediated via ASD-related child functional characteristics. Children's neurodevelopmental functional characteristics are integral to understanding the child and family health-related impact of neurodevelopmental disorders such as ASD. These findings have implications for the relative weighting given to functional versus diagnosis-specific factors in considering needs for services and supports.

  19. A Descriptive Study on the Neonatal Morbidity Profile of Autism Spectrum Disorders, Including a Comparison with Other Neurodevelopmental Disorders

    Science.gov (United States)

    Atladóttir, H. Ó.; Schendel, D. E.; Parner, E. T.; Henriksen, T. B.

    2015-01-01

    The aim of this study was to describe the profile of specific neonatal morbidities in children later diagnosed with autism spectrum disorder (ASD), and to compare this profile with the profile of children with hyperkinetic disorder, cerebral palsy, epilepsy or intellectual disability. This is a Danish population based cohort study, including all…

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

    Directory of Open Access Journals (Sweden)

    Karen S. Ho

    2016-12-01

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

  1. Visual sensorial impairments in neurodevelopmental disorders: evidence for a retinal phenotype in Fragile X Syndrome.

    Science.gov (United States)

    Rossignol, Rafaëlle; Ranchon-Cole, Isabelle; Pâris, Arnaud; Herzine, Ameziane; Perche, Astrid; Laurenceau, David; Bertrand, Pauline; Cercy, Christine; Pichon, Jacques; Mortaud, Stéphane; Briault, Sylvain; Menuet, Arnaud; Perche, Olivier

    2014-01-01

    Visual sensory impairments are common in Mental Deficiency (MD) and Autism Spectrum Disorder (ASD). These defects are linked to cerebral dysfunction in the visual cortical area characterized by the deregulation of axon growth/guidance and dendrite spine immaturity of neurons. However, visual perception had not been addressed, although the retina is part of the central nervous system with a common embryonic origin. Therefore, we investigated retinal perception, the first event of vision, in a murine model of MD with autistic features. We document that retinal function is altered in Fmr1 KO mice, a model of human Fragile X Syndrome. Indeed, In Fmr1 KO mice had a lower retinal function characterized by a decreased photoreceptors neuron response, due to a 40% decrease in Rhodopsin content and to Rod Outer Segment destabilization. In addition, we observed an alteration of the visual signal transmission between photoreceptors and the inner retina which could be attributed to deregulations of pre- and post- synaptic proteins resulting in retinal neurons synaptic destabilization and to retinal neurons immaturity. Thus, for the first time, we demonstrated that retinal perception is altered in a murine model of MD with autistic features and that there are strong similarities between cerebral and retinal cellular and molecular defects. Our results suggest that both visual perception and integration must be taken into account in assessing visual sensory impairments in MD and ASD.

  2. Facilitating support groups for siblings of children with neurodevelopmental disorders using audio-conferencing: a longitudinal feasibility study.

    Science.gov (United States)

    Gettings, Sheryl; Franco, Fabia; Santosh, Paramala J

    2015-01-01

    Siblings of children with chronic illness and disabilities are at increased risk of negative psychological effects. Support groups enable them to access psycho-education and social support. Barriers to this can include the distance they have to travel to meet face-to-face. Audio-conferencing, whereby three or more people can connect by telephone in different locations, is an efficient means of groups meeting and warrants exploration in this healthcare context. This study explored the feasibility of audio-conferencing as a method of facilitating sibling support groups. A longitudinal design was adopted. Participants were six siblings (aged eight to thirteen years) and parents of children with complex neurodevelopmental disorders attending the Centre for Interventional Paediatric Psychopharmacology (CIPP). Four of the eight one-hour weekly sessions were held face-to-face and the other four using audio-conferencing. Pre- and post-intervention questionnaires and interviews were completed and three to six month follow-up interviews were carried out. The sessions were audio-recorded, transcribed and thematic analysis was undertaken. Audio-conferencing as a form of telemedicine was acceptable to all six participants and was effective in facilitating sibling support groups. Audio-conferencing can overcome geographical barriers to children being able to receive group therapeutic healthcare interventions such as social support and psycho-education. Psychopathology ratings increased post-intervention in some participants. Siblings reported that communication between siblings and their family members increased and siblings' social network widened. Audio-conferencing is an acceptable, feasible and effective method of facilitating sibling support groups. Siblings' clear accounts of neuropsychiatric symptoms render them reliable informants. Systematic assessment of siblings' needs and strengthened links between Child and Adolescent Mental Health Services, school counsellors and

  3. Induction of the GABA cell phenotype: an in vitro model for studying neurodevelopmental disorders.

    Directory of Open Access Journals (Sweden)

    Sivan Subburaju

    Full Text Available Recent studies of the hippocampus have suggested that a network of genes is associated with the regulation of the GAD₆₇ (GAD1 expression and may play a role in γ-amino butyric acid (GABA dysfunction in schizophrenia (SZ and bipolar disorder (BD. To obtain a more detailed understanding of how GAD₆₇ regulation may result in GABAergic dysfunction, we have developed an in vitro model in which GABA cells are differentiated from the hippocampal precursor cell line, HiB5. Growth factors, such as PDGF, and BDNF, regulate the GABA phenotype by inducing the expression of GAD₆₇ and stimulating the growth of cellular processes, many with growth cones that form appositions with the cell bodies and processes of other GAD₆₇-positive cells. These changes are associated with increased expression of acetylated tubulin, microtubule-associated protein 2 (MAP2 and the post-synaptic density protein 95 (PSD95. The addition of BDNF, together with PDGF, increases the levels of mRNA and protein for GAD₆₇, as well as the high affinity GABA uptake protein, GAT1. These changes are associated with increased concentrations of GABA in the cytoplasm of "differentiated" HiB5 neurons. In the presence of Ca²⁺ and K⁺, newly synthesized GABA is released extracellularly. When the HiB5 cells appear to be fully differentiated, they also express GAD₆₅, parvalbumin and calbindin, and GluR subtypes as well as HDAC1, DAXX, PAX5, Runx2, associated with GAD₆₇ regulation. Overall, these results suggest that the HiB5 cells can differentiate into functionally mature GABA neurons in the presence of gene products that are associated with GAD₆₇ regulation in the adult hippocampus.

  4. Mastication dyspraxia: a neurodevelopmental disorder reflecting disruption of the cerebellocerebral network involved in planned actions.

    Science.gov (United States)

    Mariën, Peter; Vidts, Annelies; Van Hecke, Wim; De Surgeloose, Didier; De Belder, Frank; Parizel, Paul M; Engelborghs, Sebastiaan; De Deyn, Peter P; Verhoeven, Jo

    2013-04-01

    This paper reports the longitudinal clinical, neurocognitive, and neuroradiological findings in an adolescent patient with nonprogressive motor and cognitive disturbances consistent with a diagnosis of developmental coordination disorder (DCD). In addition to prototypical DCD, the development of mastication was severely impaired, while no evidence of swallowing apraxia, dysphagia, sensorimotor disturbances, abnormal tone, or impaired general cognition was found. He suffered from bronchopulmonary dysplasia and was ventilated as a newborn for 1.5 months. At the age of 3 months, a ventriculoperitoneal shunt was surgically installed because of obstructive hydrocephalus secondary to perinatal intraventricular bleeding. At the age of 5 years, the patient's attempts to masticate were characterized by rough, effortful, and laborious biting movements confined to the vertical plane. Solid food particles had a tendency to get struck in his mouth and there was constant spillage. As a substitute for mastication, he moved the unground food with his fingers in a lateral direction to the mandibular and maxillary vestibule to externally manipulate and squeeze the food between cheek and teeth with the palm of his hand. Once the food was sufficiently soft, the bolus was correctly transported by the tongue in posterior direction and normal deglutition took place. Repeat magnetic resonance imaging (MRI) during follow-up disclosed mild structural abnormalities as the sequelae of the perinatal intraventricular bleeding, but this could not explain impaired mastication behavior. Quantified Tc-99m-ethylcysteinate dimer single-photon emission computed tomography (Tc-99m-ECD SPECT), however, revealed decreased perfusion in the left cerebellar hemisphere, as well as in both inferior lateral frontal regions, both motor cortices, and the right anterior and lateral temporal areas. Anatomoclinical findings in this patient with DCD not only indicate that the functional integrity of the

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

    DEFF Research Database (Denmark)

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

    2014-01-01

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

  6. Oppositional defiant- and conduct disorder-like problems: neurodevelopmental predictors and genetic background in boys and girls, in a nationwide twin study.

    Science.gov (United States)

    Kerekes, Nóra; Lundström, Sebastian; Chang, Zheng; Tajnia, Armin; Jern, Patrick; Lichtenstein, Paul; Nilsson, Thomas; Anckarsäter, Henrik

    2014-01-01

    Background. Previous research has supported gender-specific aetiological factors in oppositional defiant disorder (ODD) and conduct disorder (CD). The aims of this study were to identify gender-specific associations between the behavioural problems-ODD/CD-like problems-and the neurodevelopmental disorders-attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD)-and to investigate underlying genetic effects. Methods. 17,220 twins aged 9 or 12 were screened using the Autism-Tics, AD/HD and other Comorbidities inventory. The main covariates of ODD- and CD-like problems were investigated, and the relative importance of unique versus shared hereditary and environmental effects was estimated using twin model fitting. Results. Social interaction problems (one of the ASD subdomains) was the strongest neurodevelopmental covariate of the behavioural problems in both genders, while ADHD-related hyperactivity/impulsiveness in boys and inattention in girls stood out as important covariates of CD-like problems. Genetic effects accounted for 50%-62% of the variance in behavioural problems, except in CD-like problems in girls (26%). Genetic and environmental effects linked to ADHD and ASD also influenced ODD-like problems in both genders and, to a lesser extent, CD-like problems in boys, but not in girls. Conclusions. The gender-specific patterns should be considered in the assessment and treatment, especially of CD.

  7. Oppositional defiant- and conduct disorder-like problems: neurodevelopmental predictors and genetic background in boys and girls, in a nationwide twin study

    Directory of Open Access Journals (Sweden)

    Nóra Kerekes

    2014-04-01

    Full Text Available Background. Previous research has supported gender-specific aetiological factors in oppositional defiant disorder (ODD and conduct disorder (CD. The aims of this study were to identify gender-specific associations between the behavioural problems–ODD/CD-like problems–and the neurodevelopmental disorders–attention deficit hyperactivity disorder (ADHD, autism spectrum disorder (ASD–and to investigate underlying genetic effects.Methods. 17,220 twins aged 9 or 12 were screened using the Autism–Tics, AD/HD and other Comorbidities inventory. The main covariates of ODD- and CD-like problems were investigated, and the relative importance of unique versus shared hereditary and environmental effects was estimated using twin model fitting.Results. Social interaction problems (one of the ASD subdomains was the strongest neurodevelopmental covariate of the behavioural problems in both genders, while ADHD-related hyperactivity/impulsiveness in boys and inattention in girls stood out as important covariates of CD-like problems. Genetic effects accounted for 50%–62% of the variance in behavioural problems, except in CD-like problems in girls (26%. Genetic and environmental effects linked to ADHD and ASD also influenced ODD-like problems in both genders and, to a lesser extent, CD-like problems in boys, but not in girls.Conclusions. The gender-specific patterns should be considered in the assessment and treatment, especially of CD.

  8. Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia.

    Science.gov (United States)

    Rajakulendran, Sanjeev; Roberts, Joanna; Koltzenburg, Martin; Hanna, Michael G; Stewart, Helen

    2013-11-01

    To describe the clinical and genetic findings in a family affected by neurodevelopmental delay and cerebellar ataxia. The affected mother and her two children underwent clinical assessments followed by radiological, neurophysiological and cytogenetic investigations. All three affected members exhibited varying degrees of delay in attaining motor and cognitive milestones, along with learning difficulties and cerebellar ataxia. All three harboured a new 670 kb deletion of chromosome 12q21. Two genes, KCNC2 and ATXN7L3B, lie within the deleted region. This family's complex phenotype is associated with a new chromosomal deletion, which suggests potential roles for the two genes, KCNC2 and ATXN7L3B, in human neurological disease.

  9. Behavioral and Neurodevelopmental Precursors to Binge-Type Eating Disorders: Support for the Role of Negative Valence Systems

    Science.gov (United States)

    Vannucci, Anna; Nelson, Eric E.; Bongiorno, Diana M.; Pine, Daniel S.; Yanovski, Jack A.; Tanofsky-Kraff, Marian

    2015-01-01

    Background Pediatric loss-of-control eating is a robust behavioral precursor to binge-type eating disorders. Elucidating precursors to loss-of-control eating and binge-type eating disorders may refine developmental risk models of eating disorders and inform interventions. Method We review evidence within constructs of the Negative Valence Systems (NVS)-domain, as specified by the Research Domain Criteria framework. Based on published studies, we propose an integrated NVS model of binge-type eating disorder risk. Results Data implicate altered corticolimbic functioning, neuroendocrine dysregulation, and self-reported negative affect as possible risk-factors. However, neuroimaging and physiological data in children and adolescents are sparse, and most prospective studies are limited to self-report measures. Conclusions We discuss a broad NVS framework for conceptualizing early risk for binge-type eating disorders. Future neural and behavioral research on the developmental trajectory of loss-of-control and binge-type eating disorders is required. PMID:26040923

  10. Confounding diagnoses in the neurodevelopmental disabilities population: a child with hearing loss, absence epilepsy, and attention-deficit hyperactivity disorder (ADHD).

    Science.gov (United States)

    Lance, Eboni I; Shapiro, Bruce K

    2013-05-01

    We report the case of a school-age child with a history of hearing loss presenting with staring spells. Electroencephalography (EEG) revealed a pattern consistent with absence epilepsy, and the patient was started on antiepileptic medication with decreased frequency of staring spells but he then continued to have behavioral issues. The patient was diagnosed subsequently with combined-type attention-deficit hyperactivity disorder (ADHD) and started on stimulant medication with subsequent improvement in attention and school performance. Multiple confounding diagnoses are common in children with neurodevelopmental disabilities, and comprehensive evaluation is required for appropriate management.

  11. Thyroid Functions and Bipolar Affective Disorder

    Directory of Open Access Journals (Sweden)

    Subho Chakrabarti

    2011-01-01

    Full Text Available Accumulating evidence suggests that hypothalamo-pituitary-thyroid (HPT axis dysfunction is relevant to the pathophysiology and clinical course of bipolar affective disorder. Hypothyroidism, either overt or more commonly subclinical, appears to the commonest abnormality found in bipolar disorder. The prevalence of thyroid dysfunction is also likely to be greater among patients with rapid cycling and other refractory forms of the disorder. Lithium-treatment has potent antithyroid effects and can induce hypothyroidism or exacerbate a preexisting hypothyroid state. Even minor perturbations of the HPT axis may affect the outcome of bipolar disorder, necessitating careful monitoring of thyroid functions of patients on treatment. Supplementation with high dose thyroxine can be considered in some patients with treatment-refractory bipolar disorder. Neurotransmitter, neuroimaging, and genetic studies have begun to provide clues, which could lead to an improved understanding of the thyroid-bipolar disorder connection, and more optimal ways of managing this potentially disabling condition.

  12. Seasonal affective disorder, grief reaction, and adjustment disorder.

    Science.gov (United States)

    Osborn, Justin; Raetz, Jacqueline; Kost, Amanda

    2014-09-01

    Seasonal affective disorder is a subtype of other affective disorders. The most studied treatment is light therapy, although second-generation antidepressants are also an option. Grief reactions are normal for patients experiencing loss, and primary care providers (PCPs) should be aware of both the expected course of grief and the more severe symptoms that indicate complex grief. Adjustment disorder is a time-limited abnormal response to a stressor. PCPs can manage patients with adjustment disorder by arranging counseling, screening for suicidality, assessing for substance abuse, and ruling out other psychiatric diagnoses. At present there are no reliable data to suggest medication management. Copyright © 2014 Elsevier Inc. All rights reserved.

  13. Neural systems supporting cognitive-affective interactions in adolescence: The role of puberty and implications for affective disorders

    Directory of Open Access Journals (Sweden)

    Cecile D. Ladouceur

    2012-08-01

    Full Text Available Evidence from longitudinal studies suggests that adolescence may represent a period of vulnerability that, in the context of adverse events, could contribute to developmental trajectories toward behavioral and emotional health problems, including affective disorders. Adolescence is also a sensitive period for the development of neural systems supporting cognitive-affective processes, which have been implicated in the pathophysiology of affective disorders such as anxiety and mood disorders. In particular, the onset of puberty brings about a cascade of physical, hormonal, psychological, and social changes that contribute in complex ways to the development of these systems. This article provides a brief overview of neuroimaging research pertaining to the development of cognitive-affective processes in adolescence. It also includes a brief review of evidence from animal and human neuroimaging studies suggesting that sex steroids influence the connectivity between prefrontal cortical and subcortical limbic regions in ways that contribute to increased reactivity to emotionally salient stimuli. We integrate these findings in the context of a developmental affective neuroscience framework suggesting that the impact of rising levels of sex steroids during puberty on fronto-limbic connectivity may be even greater in the context of protracted development of prefrontal cortical regions in adolescence. We conclude by discussing the implications of these findings for future research aimed at identifying neurodevelopmental markers of risk for future onset of affective disorders.

  14. Genetics Home Reference: seasonal affective disorder

    Science.gov (United States)

    ... is genetic testing? How can I find a genetics professional in my area? Other Names for This Condition affective disorder, seasonal depression in a seasonal pattern depression; seasonal major depressive ...

  15. Seasonal affective disorder and non-seasonal affective disorders : Results from the NESDA study

    NARCIS (Netherlands)

    Winthorst, Wim H; Roest, Annelieke M; Bos, Elisabeth H; Meesters, Ybe; Penninx, Brenda W J H; Nolen, Willem A; de Jonge, Peter

    BACKGROUND: Seasonal affective disorder (SAD) is considered to be a subtype of depression. AIMS: To compare the clinical picture of SAD to non-seasonal affective disorders (non-SADs). METHOD: Diagnoses according to the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) were established

  16. [Life style and affective disorders].

    Science.gov (United States)

    Raboch, Jiří

    2017-01-01

    Life style significantly affects the health status of each person. Life style medicine is an evidence based practice, which is trying to develop patterns of healthy behavior. Most evidence exists about the effect of suitable diet (eg. unsaturated fatty acids) and adequate aerobic exercise. Combination of lifestyle modification to standard psychopharmacologic and psychotherapeutic techniques can improve the results of preventive and therapeutic programs for people with depressive issues.

  17. [Comorbidity of affective disorders and alcohol use disorder].

    Science.gov (United States)

    Pringuey, D; Cherikh, F; Lunacek, S; Giordana, B; Fakra, E; Belzeaux, R; Adida, M; Azorin, J-M

    2014-12-01

    The comorbidity of affective disorders with alcohol use disorder remains insufficiently taken into account. In spite of the well-known frequency of the addict comorbidity in most psychiatric disorders, the level of association between affective disorders and alcohol is still underestimated and poorly understood. The label of "double diagnosis" relates to a simple addition of two independent pathologies. It is suggested to consider a "dual psychopathology" combining the effects of one disorder on the other. Interactions between the two disorders commit a complex state calling a new clinical reading, an adapted therapeutic strategy through a necessary integration of care. Association of alcohol use disorder and affective disorder, particularly in bipolar disorders, is correlated with severity, unstable course, treatment resistance and a greater risk of suicide. Alcohol aggravates depression and hampers therapeutics. Alcohol and mania remain a dreaded danger. The mechanism of the comorbid association does not only refer to a behavioral strategy of compensation but seems strongly based on a shared and crossed vulnerability, related to the genetics of the 5HT carrier and gene Clock. Therapeutic limitations do suggest the implementation of an "integrated" device which supposes a new organization of care and facilitation of collaborations between Addiction and Psychiatry. Copyright © 2014 L’Encéphale. Published by Elsevier Masson SAS.. All rights reserved.

  18. The use of MElatonin in children with neurodevelopmental disorders and impaired sleep: a randomised, double-blind, placebo-controlled, parallel study (MENDS).

    Science.gov (United States)

    Appleton, R E; Jones, A P; Gamble, C; Williamson, P R; Wiggs, L; Montgomery, P; Sutcliffe, A; Barker, C; Gringras, P

    2012-01-01

    Difficulties in initiating and maintaining sleep are common in children with neurodevelopmental disorders. Melatonin is unlicensed in children yet widely prescribed for sleep problems. To determine whether or not immediate-release melatonin is beneficial compared with placebo in improving total duration of night-time sleep in children with neurodevelopmental problems. Randomised, double-blind, placebo-controlled, parallel study. Hospitals throughout England and Wales recruited patients referred by community paediatricians and other clinical colleagues. Children with neurodevelopmental problems aged from 3 years to 15 years 8 months who did not fall asleep within 1 hour of lights out or who had children were screened to enter the trial; 263 (96%) children were registered and completed the 4- to 6-week behaviour therapy period and 146 (56%) children were randomised, of whom 110 (75%) contributed data for the primary outcome. The difference in TST time between the melatonin and placebo groups adjusted for baseline was 22.43 minutes [95% confidence interval (CI) 0.52 to 44.34 minutes; p = 0.04] measured using sleep diaries. A reduction in SOL, adjusted for baseline, was seen for melatonin compared with placebo when measured by sleep diaries (-37.49 minutes, 95% CI -55.27 to -19.71 minutes; p children treated with melatonin slept 23 minutes longer than those in the placebo group; however, the upper limit of the confidence interval was less than 1 hour, the minimum clinically worthwhile difference specified at the outset of the trial. Melatonin is effective in reducing SOL in children with neurodevelopmental delay by a mean of 45 minutes; a value of 30 minutes was specified a priori to be clinically important. Future studies should be conducted over longer periods and directly compare different formulations of melatonin with conventional hypnotic and sedative medications. It would also be important to study groups of children with specific neurological disorders. Current

  19. Plasma Pharmacokinetic Characteristics of Risperidone and Their Relationship to Saliva Concentrations in Children with Psychiatric or Neurodevelopmental Disorders

    Science.gov (United States)

    Aman, Michael G.; Vinks, Alexander A.; Remmerie, Bart; Mannaert, Erik; Ramadan, Yaser; Masty, Jessica; Lindsay, Ronald L.; Malone, Krista

    2013-01-01

    Background Risperidone is a second-generation antipsychotic agent widely used in the treatment of schizophrenia and other psychotic disorders in adults. Risperidone is probably the most frequently used atypical antipsychotic in the pediatric population. Objectives The goals of this study were to estimate the pharmacokinetic parameters of risperidone and its enantiomers in a pediatric population and explore relationships between saliva and plasma concentrations. Methods Eligible patients, between 4 and 15 years of age, included those taking a stable dose of oral risperidone ranging from 0.01 to 0.07 mg/kg BID for ≥4 weeks to treat psychiatric or neurodevelopmental conditions. A trough blood level and predose saliva sample were collected at study initiation; the regular risperidone dose was administered; and paired samples of blood and saliva were collected at 1, 2, 4, and 7 hours postdose. Plasma/saliva concentrations of risperidone and enantiomers of its principal active metabolite, 9-hydroxyrisperidone (9-OH-risperidone), were measured using a chiral liquid chromatography–tandem mass spectrometry assay. Standard pharmacokinetic parameters were calculated. Cytochrome P450 2D6 genotypes of *3,*4,*5 deletion and duplication were determined. Results The study included 19 patients (age range, 4 years 2 months to 15 years 11 months). Mean (SD) values for Cmax, t1/2, and AUC 0 to 12 hours for risperidone in plasma were 15.9 (22.2) ng/mL, 3.0 (2.3) h, and 92.1 (200.6) ng · h/mL, respectively. Corresponding values in saliva were 12.0 (21.0) ng/mL, 3.4 (3.2) h, and 27.8 (38.7) ng · h/mL, respectively. Mean (SD) plasma enantiomer values for Cmax and AUC calculated up to the last observation were: (+)-9-OH-risperidone, 13.6 (10.0) ng/mL and 73.6 (52.3) ng · h/mL; (−)-9-OH-risperidone, 4.9 (3.1) ng/mL and 29.3 (19.1) ng · h/mL. Corresponding enantiomer values in saliva were: (+)-9-OH-risperidone, 5.2 (8.8) ng/mL and 15.6 (8.9) ng · h/mL; (−)-9-OH-risperidone, 5

  20. Neurodevelopmental Disorders across the Lifespan: A Neuroconstructivist Approach. Edited by Emily K. Farran and Annette Karmiloff-Smith, Oxford University Press, 2012; 394 pages. Price: £49.99, ISBN 978-0-19-959481-8

    Directory of Open Access Journals (Sweden)

    Shu-Kun Lin

    2013-01-01

    Full Text Available The first book to consider atypical development across multiple levels (genes, brain, behavior, environment, encouraging readers to think dynamically and developmentally, rather than examining static snapshots of neurodevelopmental disorders.Provides the most comprehensive review of development across cognitive domains (and their interactions, making clinicians more sensitive to looking for underlying cognitive and neural differences even when behavioral scores are in the normal range.Considers development from infancy to adulthood, encouraging the reader to think about the importance of development in understanding neurodevelopmental disorders, for example, by considering the impact that differences in low-level processes in infancy can have on later developing cognitive processes.

  1. [Etiopathology and therapy of seasonal affective disorder].

    Science.gov (United States)

    Molnar, Eszter; Gonda, Xenia; Rihmer, Zoltan; Bagdy, Gyorgy

    2010-12-01

    To understand the etiology of seasonal affective disorder (SAD) heterogeneous biological, psychological and environmental mechanisms needs to be considered. The aim of our study was to review theoretical hypotheses and therapeutic possibilities for seasonal affective disorder, which focus on alterations of circadian rhythms and monoaminergic neurotransmitter function as well as the role of vitamin D3 and possible implications of the cognitive-behavioral model. These discrepant hypotheses are insufficient alone to interpret the pathophysiology of SAD, but the integrative dual vulnerability hypothesis is an option to explain emergence of seasonal affective disorder. In addition to summarizing theoretical approaches we also review and evaluate the therapeutic possibilities derive form these hypotheses. In practice the most effective treatment for SAD is the combination of light therapy, antidepressants and psychotherapy.

  2. Developmental neurotoxicity of inhaled ambient ultrafine particle air pollution: Parallels with neuropathological and behavioral features of autism and other neurodevelopmental disorders.

    Science.gov (United States)

    Allen, J L; Oberdorster, G; Morris-Schaffer, K; Wong, C; Klocke, C; Sobolewski, M; Conrad, K; Mayer-Proschel, M; Cory-Slechta, D A

    2017-03-01

    Accumulating evidence from both human and animal studies show that brain is a target of air pollution. Multiple epidemiological studies have now linked components of air pollution to diagnosis of autism spectrum disorder (ASD), a linkage with plausibility based on the shared mechanisms of inflammation. Additional plausibility appears to be provided by findings from our studies in mice of exposures from postnatal day (PND) 4-7 and 10-13 (human 3rd trimester equivalent), to concentrated ambient ultrafine (UFP) particles, considered the most reactive component of air pollution, at levels consistent with high traffic areas of major U.S. cities and thus highly relevant to human exposures. These exposures, occurring during a period of marked neuro- and gliogenesis, unexpectedly produced a pattern of developmental neurotoxicity notably similar to multiple hypothesized mechanistic underpinnings of ASD, including its greater impact in males. UFP exposures induced inflammation/microglial activation, reductions in size of the corpus callosum (CC) and associated hypomyelination, aberrant white matter development and/or structural integrity with ventriculomegaly (VM), elevated glutamate and excitatory/inhibitory imbalance, increased amygdala astrocytic activation, and repetitive and impulsive behaviors. Collectively, these findings suggest the human 3rd trimester equivalent as a period of potential vulnerability to neurodevelopmental toxicity to UFP, particularly in males, and point to the possibility that UFP air pollution exposure during periods of rapid neuro- and gliogenesis may be a risk factor not only for ASD, but also for other neurodevelopmental disorders that share features with ASD, such as schizophrenia, attention deficit disorder, and periventricular leukomalacia. Copyright © 2015 Elsevier B.V. All rights reserved.

  3. Affect regulation and Depressive Personality Disorder.

    Science.gov (United States)

    Chen, Yung-Tsen; Huprich, Steven K; Hsiao, Wei-Cheng

    2011-12-01

    Depressive Personality Disorder (DPD) has been under consideration for inclusion in the Diagnostic and Statistical Manual of Mental Disorders since 1994; yet, few studies have been published that test whether those with DPD have affective experiences that are characterized exclusively by depression and negative affect. One hundred ninety-seven undergraduate students were interviewed for DPD and Borderline Personality Disorder with the Personality Disorder Interview for DSM-IV (Widiger, Mangine, Corbitt, Ellis, & Thomas, 1995), in order to control for frequently co-occurring BPD which is characterized by affective lability. Participants also were administered measures of affective lability, affective intensity, anxious and depressive states, and more trait-like manifestations of depression, anxiety, and anger. Results indicate that those with DPD may be described as having a mood state characterized by transitions from a baseline neutral mood to one of anxiety, with their experiences being more prominently depressed and dysphoric. They also have tendencies toward angry hostility, though they may not report frequent shifts from a baseline neutral mood to anger. Those with DPD also report intense, frequent experiences of depression and dysphoria, with many shifts between depression and anxiety.

  4. Affective Bipolar Disorder and Borderline Personality Disorder - Comorbidity or Continuum

    Directory of Open Access Journals (Sweden)

    Berta Ferreira

    2014-10-01

    Full Text Available The association between bipolar disorder and borderline personality has been studied by several researchers. Comorbidity has been emphasized by some authors which observe a prognostic impairment of bipolar disorder because the delay of the diagnostic. Symptoms related with alcohol and drugs abuse, suicidary behaviour and impulsivity, often present in borderline patients, make the treatment difficult. Other authors consider these symptoms as being part of the bipolar disease, proposing a continuum between the two entities. In this case, borderline personality would be a mild form of an affective disorder. We will discuss different opinions and their cli- nical and therapeutic consequences.

  5. Circadian polymorphisms associated with affective disorders

    Directory of Open Access Journals (Sweden)

    Shekhtman Tatyana

    2009-01-01

    Full Text Available Abstract Background Clinical symptoms of affective disorders, their response to light treatment, and sensitivity to other circadian interventions indicate that the circadian system has a role in mood disorders. Possibly the mechanisms involve circadian seasonal and photoperiodic mechanisms. Since genetic susceptibilities contribute a strong component to affective disorders, we explored whether circadian gene polymorphisms were associated with affective disorders in four complementary studies. Methods Four groups of subjects were recruited from several sources: 1 bipolar proband-parent trios or sib-pair-parent nuclear families, 2 unrelated bipolar participants who had completed the BALM morningness-eveningness questionnaire, 3 sib pairs from the GenRed Project having at least one sib with early-onset recurrent unipolar depression, and 4 a sleep clinic patient group who frequently suffered from depression. Working mainly with the SNPlex assay system, from 2 to 198 polymorphisms in genes related to circadian function were genotyped in the participant groups. Associations with affective disorders were examined with TDT statistics for within-family comparisons. Quantitative trait associations were examined within the unrelated samples. Results In NR1D1, rs2314339 was associated with bipolar disorder (P = 0.0005. Among the unrelated bipolar participants, 3 SNPs in PER3 and CSNK1E were associated with the BALM score. A PPARGC1B coding SNP, rs7732671, was associated with affective disorder with nominal significance in bipolar family groups and independently in unipolar sib pairs. In TEF, rs738499 was associated with unipolar depression; in a replication study, rs738499 was also associated with the QIDS-SR depression scale in the sleep clinic patient sample. Conclusion Along with anti-manic effects of lithium and the antidepressant effects of bright light, these findings suggest that perturbations of the circadian gene network at several levels may

  6. Ophthalmic implications of seasonal affective disorder

    Energy Technology Data Exchange (ETDEWEB)

    Paramore, J.E.; King, V.M. (Ferris State Univ., Big Rapids, MI (USA))

    1989-07-01

    A review of seasonal affective disorder (SAD) is presented with a discussion of its standard treatment of phototherapy. A number of ophthalmic implications related to SAD are proposed. These implications relate to both the condition and the phototherapy used in its treatment, especially the use of full spectrum light which contains ultraviolet and near ultraviolet radiation. 12 references.

  7. On the chronobiology of seasonal affective disorder

    NARCIS (Netherlands)

    Koorengevel, Kathelijne Mara

    2002-01-01

    Chronobiological hypotheses about the pathogenesis of affective disorders have a long history. According to the modern variants, abnormalities of either a sleep-wake cycle dependent process S, or a circadian pacemaker related process C, or an abnor-mal interaction between these two processes

  8. 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

  9. Brain Networks Implicated in Seasonal Affective Disorder

    DEFF Research Database (Denmark)

    Nørgaard, Martin; Ganz, Melanie; Svarer, Claus

    2017-01-01

    Background: Seasonal Affective Disorder (SAD) is a subtype of Major Depressive Disorder characterized by seasonally occurring depression that often presents with atypical vegetative symptoms such as hypersomnia and carbohydrate craving. It has recently been shown that unlike healthy people......, patients with SAD fail to globally downregulate their cerebral serotonin transporter (5-HTT) in winter, and that this effect seemed to be particularly pronounced in female S-carriers of the 5-HTTLPR genotype. The purpose of this study was to identify a 5-HTT brain network that accounts for the adaption...

  10. Concurrent validity of the differential ability scales, second edition with the Mullen Scales of Early Learning in young children with and without neurodevelopmental disorders.

    Science.gov (United States)

    Farmer, Cristan; Golden, Christine; Thurm, Audrey

    2016-01-01

    Estimates of intelligence in young children with neurodevelopmental disorders are critical for making diagnoses, in characterizing symptoms of disorders, and in predicting future outcomes. The limitations of standardized testing for children with developmental delay or cognitive impairment are well known: Tests do not exist that provide developmentally appropriate material along with norms that extend to the lower reaches of ability. Two commonly used and interchanged instruments are the Mullen Scales of Early Learning (MSEL), a test of developmental level, and the Differential Ability Scales, second edition (DAS-II), a more traditional cognitive test. We evaluated the correspondence of contemporaneous MSEL and the DAS-II scores in a mixed sample of children aged 2-10 years with autism spectrum disorder (ASD), non-ASD developmental delays, and typically developing children across the full spectrum of cognitive ability. Consistent with published data on the original DAS and the MSEL, scores on the DAS-II and MSEL were highly correlated. However, curve estimation revealed large mean differences that varied as a function of the child's cognitive ability level. We conclude that interchanging MSEL and DAS-II scores without regard to the discrepancy in scores may produce misleading results in both cross-sectional and longitudinal studies of children with and without ASD, and, thus, this practice should be implemented with caution.

  11. Neurobehavioral and neurodevelopmental effects of pesticide exposures

    NARCIS (Netherlands)

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

    2012-01-01

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

  12. 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 ...

  13. Climatic factors and bipolar affective disorder

    DEFF Research Database (Denmark)

    Christensen, Ellen Margrethe; Larsen, Jens Knud; Gjerris, Annette

    2008-01-01

    In bipolar disorder, the factors provoking a new episode are unknown. As a seasonal variation has been noticed, it has been suggested that weather conditions may play a role. The aim of the study was to elucidate whether meteorological parameters influence the development of new bipolar phases....... A group of patients with at least three previous hospitalizations for bipolar disorder was examined every 3 months for up to 3 years. At each examination an evaluation of the affective phase was made according to the Hamilton Depression Scale (HAM-D(17)), and the Bech-Rafaelsen Mania Rating Scale (MAS......). In the same period, daily recordings from the Danish Meteorological Institute were received. We found no correlations between onset of bipolar episodes [defined as MAS score of 11 or more (mania) and as HAM-D(17) score of 12 or more (depression)] and any meteorological parameters. We found a statistical...

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

    Science.gov (United States)

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

    2003-01-01

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

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

    NARCIS (Netherlands)

    Sollis, E; Graham, S.A.; Vino, A.; Froehlich, H.; Vreeburg, M.; Dimitropoulou, D.; Gilissen, C.; Pfundt, R.; Rappold, G.A.; Brunner, H.G; Deriziotis, P.; Fisher, S.E.

    2016-01-01

    De novo disruptions of the neural transcription factor FOXP1 are a recently discovered, rare cause of sporadic intellectual disability (ID). We report three new cases of FOXP1-related disorder identified through clinical whole-exome sequencing. Detailed phenotypic assessment confirmed that global

  16. Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders

    DEFF Research Database (Denmark)

    Isles, Anthony R; Ingason, Andrés; Lowther, Chelsea

    2016-01-01

    Duplications at 15q11.2-q13.3 overlapping the Prader-Willi/Angelman syndrome (PWS/AS) region have been associated with developmental delay (DD), autism spectrum disorder (ASD) and schizophrenia (SZ). Due to presence of imprinted genes within the region, the parental origin of these duplications m...

  17. Assessing Parent Perceptions of Physical Activity in Families of Toddlers With Neurodevelopmental Disorders: The Parent Perceptions of Physical Activity Scale (PPPAS).

    Science.gov (United States)

    Lakes, Kimberley D; Abdullah, Maryam M; Youssef, Julie; Donnelly, Joseph H; Taylor-Lucas, Candice; Goldberg, Wendy A; Cooper, Dan; Aizik, Shlomit

    2017-08-01

    The purpose of this study was to examine a new tool (PPPAS = Parent Perceptions of Physical Activity Scale-Preschool) developed to study parental perceptions of physical activity (PA) among parents of toddler and preschool age children. 143 children (mean age 31.65 months; 75% male) and their parents were recruited from a neurodevelopmental clinic. Parents completed questionnaires, and both a psychologist and a physician evaluated the children. Eighty-three percent of the children received a diagnosis of Autism Spectrum Disorder; 20% of the children had a BMI > 85th percentile. Analyses were conducted to evaluate the reliability, concurrent validity, discriminant validity, and predictive validity of PPPAS scores. Results supported a two-factor structure: Perceptions of the Benefits of PA and the Barriers to PA. The internal consistency of scores was good for both PPPAS subscales, derived from the two factors. Parent perceptions of barriers to PA were significantly correlated with delays in overall adaptive functioning, daily living skills, socialization, and motor skills. When a child's motor skills were delayed, parents were less likely to believe PA was beneficial and perceived more barriers to PA. Parent perceptions of barriers to PA predicted parent-reported weekly unstructured PA and ratings of how physically active their child was compared with other children. We present the PPPAS-Preschool for use in pediatric exercise research and discuss potential applications for the study of parent perceptions of PA in young children.

  18. Genetic predictors of celiac disease, lactose intolerance, and vitamin D function and presence of peptide morphins in urine of children with neurodevelopmental disorders.

    Science.gov (United States)

    Bojović, Katarina; Stanković, Biljana; Kotur, Nikola; Krstić-Milošević, Dijana; Gašić, Vladimir; Pavlović, Sonja; Zukić, Branka; Ignjatović, Đurđica

    2017-07-24

    Gastrointestinal disturbances, nutritional deficiencies, and food intolerances are frequently observed in children with neurodevelopmental disorders (NDD). To reveal possible association of celiac disease risk variants (HLA-DQ), lactose intolerance associated variant (LCT-13910C>T) as well as variant associated with vitamin D function (VDR FokI) with NDD, polymerase chain reaction-based methodology was used. Additionally, intestinal peptide permeability was estimated in NDD patients and healthy children by measuring the level of peptides in urine using high-performance liquid chromatography. Levels of opioid peptides, casomorphin 8, and gluten exorphin C were significantly elevated in urine samples of NDD patients (P = 0.004 and P = 0.005, respectively), but no association of genetic risk variants for celiac disease and lactose intolerance with NDD was found. Our results indicate that increased intestinal peptide permeability observed in analyzed NDD patients is not associated with genetic predictors of celiac disease or lactose intolerance. We have also found that FF genotype of VDR FokI and lower serum levels of vitamin D (25-OH) showed association with childhood autism (CHA), a subgroup of NDD. We hypothesize that vitamin D might be important for the development of CHA.

  19. Affective Priming in Major Depressive Disorder

    Directory of Open Access Journals (Sweden)

    Joelle eLeMoult

    2012-10-01

    Full Text Available Research on cognitive biases in depression has provided considerable evidence for the impact of emotion on cognition. Individuals with depression tend to preferentially process mood-congruent material and to show deficits in the processing of positive material leading to biases in attention, memory, and judgments. More research is needed, however, to fully understand which cognitive processes are affected. The current study further examines the impact of emotion on cognition using a priming design with facial expressions of emotion. Specifically, this study tested whether the presentation of facial expressions of emotion affects subsequent processing of affective material in participants with major depressive disorder (MDD and healthy controls (CTL. Facial expressions displaying happy, sad, angry, disgusted, or neutral expressions were presented as primes for 500ms, and participants’ speed to identify a subsequent target’s emotional expression was assessed. All participants displayed greater interference from emotional versus neutral primes, marked by slower response times to judge the emotion of the target face when it was preceded by an emotional prime. Importantly, the CTL group showed the strongest interference when happy emotional expressions served as primes whereas the MDD group failed to show this bias. These results add to a growing literature that shows that depression is associated with difficulties in the processing of positive material.

  20. Febrile Seizures and Epilepsy: Association With Autism and Other Neurodevelopmental Disorders in the Child and Adolescent Twin Study in Sweden.

    Science.gov (United States)

    Gillberg, Christopher; Lundström, Sebastian; Fernell, Elisabeth; Nilsson, Gill; Neville, Brian

    2017-09-01

    There is a recently well-documented association between childhood epilepsy and earlysymptomaticsyndromeselicitingneurodevelopmentalclinicalexaminations (ESSENCE) including autism spectrum disorder, but the relationship between febrile seizures and ESSENCE is less clear. The Child and Adolescent Twin Study in Sweden (CATSS) is an ongoing population-based study targeting twins born in Sweden since July 1, 1992. Parents of 27,092 twins were interviewed using a validated DSM-IV-based interview for ESSENCE, in connection with the twins' ninth or twelfth birthday. Diagnoses of febrile seizures (n = 492) and epilepsy (n = 282) were based on data from the Swedish National Patient Register. Prevalence of ESSENCE in individuals with febrile seizures and epilepsy was compared with prevalence in the twin population without seizures. The association between febrile seizures and ESSENCE was considered before and after adjustment for epilepsy. Age of diagnosis of febrile seizures and epilepsy was considered as a possible correlate of ESSENCE in febrile seizures and epilepsy. The rate of ESSENCE in febrile seizures and epilepsy was significantly higher than in the total population without seizures (all P < 0.001). After adjusting for epilepsy, a significant association between febrile seizures and autism spectrum disorder, developmental coordination disorder, and intellectual disability remained. Earlier age of onset was associated with all ESSENCE except attention-deficit/hyperactivity disorder in epilepsy but not with ESSENCE in febrile seizures. In a nationally representative sample of twins, there was an increased rate of ESSENCE in childhood epilepsy and in febrile seizures. Febrile seizures alone could occur as a marker for a broader ESSENCE phenotype. Copyright © 2017 Elsevier Inc. All rights reserved.

  1. Translational Approaches for Studying Neurodevelopmental Disorders Utilizing in Vivo Proton (+H) Magnetic Resonance Spectroscopic Imaging in Rats

    Science.gov (United States)

    Ronca, April E.

    2014-01-01

    Intrauterine complications have been implicated in the etiology of neuripsychiatric disorders including schizophrenia, autism and ADHD. This presentation will describe new translational studies derived from in vivo magnetic resonance imaging of developing and adult brain following perinatal asphyxia (PA). Our findings reveal significant effects of PA on neurometabolic profiles at one week of age, and significant relationships between early metabolites and later life phenotypes including behavior and brain morphometry

  2. Behavioral alterations in rat offspring following maternal immune activation and ELR-CXC chemokine receptor antagonism during pregnancy: implications for neurodevelopmental psychiatric disorders.

    Science.gov (United States)

    Ballendine, Stephanie A; Greba, Quentin; Dawicki, Wojciech; Zhang, Xiaobei; Gordon, John R; Howland, John G

    2015-03-03

    Research suggests that maternal immune activation (MIA) during pregnancy increases the risk of neurodevelopmental disorders including schizophrenia and autism in the offspring. Current theories suggest that inflammatory mediators including cytokines and chemokines may underlie the increased risk of these disorders in humans. For example, elevated maternal interleukin-8 (IL-8) during pregnancy is associated with increased risk of schizophrenia in the offspring. Given this association, the present experiments examined ELR-CXC chemokines CXCL1 and CXCL2, rodent homologues of human IL-8, and activation of their receptors (CXCR1 and CXCR2) in an established rodent model of MIA. Pregnant Long Evans rats were treated with the viral mimetic polyinosinic-polycytidylic acid (polyI:C; 4 mg/kg, i.v.) on gestational day 15. Protein analysis using multiplex assays and ELISA showed that polyI:C significantly increased maternal serum concentrations of interleukin-1β, tumor necrosis factor, and CXCL1 3h after administration. Subsequent experiments tested the role of elevated maternal CXCL1 on behavior of the offspring by administering a CXCR1/CXCR2 antagonist (G31P; 500 μg/kg, i.p.; 1h before, 48 and 96 h after polyI:C treatment). The male offspring of dams treated with polyI:C demonstrated subtle impairments in prepulse inhibition (PPI), impaired associative and crossmodal recognition memory, and altered behavioral flexibility in an operant test battery. While G31P did not completely reverse the behavioral impairments caused by polyI:C, it enhanced PPI during adolescence and strategy set-shifting and reversal learning during young adulthood. These results suggest that while polyI:C treatment significantly increases maternal CXCL1, elevations of this chemokine are not solely responsible for the effects of polyI:C on the behavior of the offspring. Copyright © 2014 Elsevier Inc. All rights reserved.

  3. Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.

    Science.gov (United States)

    Hempel, Annmarie; Pagnamenta, Alistair T; Blyth, Moira; Mansour, Sahar; McConnell, Vivienne; Kou, Ikuyo; Ikegawa, Shiro; Tsurusaki, Yoshinori; Matsumoto, Naomichi; Lo-Castro, Adriana; Plessis, Ghislaine; Albrecht, Beate; Battaglia, Agatino; Taylor, Jenny C; Howard, Malcolm F; Keays, David; Sohal, Aman Singh; Kühl, Susanne J; Kini, Usha; McNeill, Alisdair

    2016-03-01

    SOX11 is a transcription factor proposed to play a role in brain development. The relevance of SOX11 to human developmental disorders was suggested by a recent report of SOX11 mutations in two patients with Coffin-Siris syndrome. Here we further investigate the role of SOX11 variants in neurodevelopmental disorders. We used array based comparative genomic hybridisation and trio exome sequencing to identify children with intellectual disability who have deletions or de novo point mutations disrupting SOX11. The pathogenicity of the SOX11 mutations was assessed using an in vitro gene expression reporter system. Loss-of-function experiments were performed in xenopus by knockdown of Sox11 expression. We identified seven individuals with chromosome 2p25 deletions involving SOX11. Trio exome sequencing identified three de novo SOX11 variants, two missense (p.K50N; p.P120H) and one nonsense (p.C29*). The biological consequences of the missense mutations were assessed using an in vitro gene expression system. These individuals had microcephaly, developmental delay and shared dysmorphic features compatible with mild Coffin-Siris syndrome. To further investigate the function of SOX11, we knocked down the orthologous gene in xenopus. Morphants had significant reduction in head size compared with controls. This suggests that SOX11 loss of function can be associated with microcephaly. We thus propose that SOX11 deletion or mutation can present with a Coffin-Siris phenotype. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  4. Somatic therapies for seasonal affective disorder.

    Science.gov (United States)

    Howland, Robert H

    2009-01-01

    The syndrome of seasonal affective disorder (SAD) is defined as a history of major depressive episodes that recur regularly at a particular time of year, typically fall or winter, and completely remit in the spring. It has been hypothesized that photoperiod-related changes in the duration of melatonin secretion may be involved in the seasonal mood cycles of SAD in human beings, suggesting that artificial bright lights (mimicking daylight) might be used to treat SAD. This article reviews studies on the use of bright light therapy and antidepressant medication for the treatment of SAD. Studies have found that bright light therapy and antidepressant medication are both effective for the treatment of SAD. Bright light therapy may also be effective for treating nonseasonal depression.

  5. Seasonal affective disorder: a clinical update.

    Science.gov (United States)

    Westrin, Asa; Lam, Raymond W

    2007-01-01

    Seasonal affective disorder (SAD) consists of recurrent major depressive episodes in the fall/winter with remissions in spring/summer. A Medline search was conducted to identify studies relating to clinical management of SAD using the Medical Subject Heading, seasonal affective disorder, and key words, depress* and season*, focusing on studies published in the past 10 years. The Cochrane library of systematic reviews was also searched for relevant studies. A careful history is important to make the diagnosis and differentiate SAD from other similar conditions such as subsyndromal SAD and atypical depression. Seasonal patterns with winter worsening are also recognized in "nonseasonal" depression as well as many other psychiatric conditions, and comorbidity with SAD is common. The pathophysiology of SAD seems to be heterogeneous as research on circadian, neurotransmitter function and genetic hypotheses have shown discrepant results. A dual vulnerability model with differential loading on separate seasonal and depression factors has been proposed to explain these findings. Recent systematic reviews have shown that light therapy is an efficacious and well-tolerated treatment for SAD. There is also evidence for efficacy of pharmacotherapy to treat and prevent SAD. Clinical studies show equal effectiveness with light and antidepressants, so patient preference should be considered in the selection of initial treatment. Dawn stimulation, negative air ions, exercise and cognitve behaviour therapy are under investigation and may also be helpful treatments for SAD. SAD is a common condition with significant psychosocial impairment. Clinicians should be vigilant in recognizing seasonal patterns of depressive episodes because there are effective, evidence-based treatments for SAD.

  6. Neurodevelopmental disorder associated with prenatal exposure to alcohol (ND-PAE): A proposed diagnostic method of capturing the neurocognitive phenotype of FASD.

    Science.gov (United States)

    Kable, Julie A; Mukherjee, Raja A S

    2017-01-01

    Neurobehavioral Disorder associated with Prenatal Alcohol Exposure (ND-PAE) was proposed as a diagnostic formulation intended to capture the range of mental health problems occurring in alcohol-affected individuals with a history of prenatal alcohol exposure. The proposed criteria for the disorder are reviewed as well as various factors considered in the development of the disorder and its associated criteria. The taxonomic research related to the disorder is reviewed with preliminary analyses indicating that clinicians are readily able to agree when applying the diagnostic criteria but that the adaptive functioning criteria may need to be modified to expand its coverage of alcohol-affected individuals and to aid in discriminating these individuals from others not alcohol-affected. Finally, the challenges with translating the diagnosis into European medical and mental healthcare systems are discussed and recommendations for facilitating implementation are made. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  7. Potential animal models of seasonal affective disorder.

    Science.gov (United States)

    Workman, Joanna L; Nelson, Randy J

    2011-01-01

    Seasonal affective disorder (SAD) is characterized by depressive episodes during winter that are alleviated during summer and by morning bright light treatment. Currently, there is no animal model of SAD. However, it may be possible to use rodents that respond to day length (photoperiod) to understand how photoperiod can shape the brain and behavior in humans. As nights lengthen in the autumn, the duration of the nightly elevation of melatonin increase; seasonally breeding animals use this information to orchestrate seasonal changes in physiology and behavior. SAD may originate from the extended duration of nightly melatonin secretion during fall and winter. These similarities between humans and rodents in melatonin secretion allows for comparisons with rodents that express more depressive-like responses when exposed to short day lengths. For instance, Siberian hamsters, fat sand rats, Nile grass rats, and Wistar rats display a depressive-like phenotype when exposed to short days. Current research in depression and animal models of depression suggests that hippocampal plasticity may underlie the symptoms of depression and depressive-like behaviors, respectively. It is also possible that day length induces structural changes in human brains. Many seasonally breeding rodents undergo changes in whole brain and hippocampal volume in short days. Based on strict validity criteria, there is no animal model of SAD, but rodents that respond to reduced day lengths may be useful to approximate the neurobiological phenomena that occur in people with SAD, leading to greater understanding of the etiology of the disorder as well as novel therapeutic interventions. Copyright © 2010 Elsevier Ltd. All rights reserved.

  8. Effect of Neuroinflammation on Synaptic Organization and Function in the Developing Brain: Implications for Neurodevelopmental and Neurodegenerative Disorders

    DEFF Research Database (Denmark)

    Mottahedin, Amin; Ardalan, Maryam; Chumak, Tetyana

    2017-01-01

    The brain is a plastic organ where both the intrinsic CNS milieu and extrinsic cues play important roles in shaping and wiring neural connections. The perinatal period constitutes a critical time in central nervous system development with extensive refinement of neural connections, which are highly...... physiology and pathophysiology, including microglia-mediated elimination of synapses. We propose that activation of the immune system dynamically affects synaptic organization and function in the developing brain. We will discuss the role of neuroinflammation in altered synaptic plasticity following...

  9. A neurodevelopmental approach to understanding memory processes among intellectually gifted youth with attention-deficit hyperactivity disorder.

    Science.gov (United States)

    Whitaker, Ashley M; Bell, Terece S; Houskamp, Beth M; O'Callaghan, Erin T

    2015-01-01

    Intellectual giftedness is associated with strong strategic verbal memory while attention-deficit hyperactivity disorder (ADHD) is associated with strategic verbal memory deficits; however, no previous research has explored how this contradiction manifests in gifted populations with diagnoses of ADHD. The purpose of this study was to explore strategic verbal memory processes among intellectually gifted youth with and without ADHD to provide clarification regarding this specific aspect of neuropsychological functioning within this population. One hundred twenty-five youth completed neuropsychological evaluations including the Wechsler Intelligence Scale for Children-Fourth Edition and California Verbal Learning Test-Children's Version (CVLT-C). Results revealed significant differences between groups, with intellectually gifted youth with ADHD achieving lower T scores on CVLT-C Trials 1 through 5 compared with intellectually gifted youth without ADHD, and intellectually gifted youth with ADHD achieving higher T scores than youth of average intellectual abilities with ADHD. Additionally, repeated-measures analysis of variance revealed a main effect improvement among gifted youth with ADHD in short-delay recall when provided with organizational cues. Findings revealed new evidence about the role of twice exceptionality (specifically intellectual giftedness and ADHD) in strategic verbal memory and have important implications for parents, educators, psychologists and neuropsychologists, and other mental health professionals working with this population.

  10. Animal-Assisted Therapy on Children with Autism Spectrum Disorder

    OpenAIRE

    Méndez Moreno, Alba

    2017-01-01

    Autism Spectrum Disorder (ASD) is a common, incurable neurodevelopmental disorder impairing the individual’s capacity of social communication and interaction. There is not any pharmacological treatment available for this disorder affecting about 1% of children worldwide, which creates a need for complementary therapeutic interventions for ASD management. Animal-assisted therapy (AAT) has been proved as effective for the management of other neurodevelopmental and psychiatric disorders – such a...

  11. Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders.

    Directory of Open Access Journals (Sweden)

    Anthony R Isles

    2016-05-01

    Full Text Available Duplications at 15q11.2-q13.3 overlapping the Prader-Willi/Angelman syndrome (PWS/AS region have been associated with developmental delay (DD, autism spectrum disorder (ASD and schizophrenia (SZ. Due to presence of imprinted genes within the region, the parental origin of these duplications may be key to the pathogenicity. Duplications of maternal origin are associated with disease, whereas the pathogenicity of paternal ones is unclear. To clarify the role of maternal and paternal duplications, we conducted the largest and most detailed study to date of parental origin of 15q11.2-q13.3 interstitial duplications in DD, ASD and SZ cohorts. We show, for the first time, that paternal duplications lead to an increased risk of developing DD/ASD/multiple congenital anomalies (MCA, but do not appear to increase risk for SZ. The importance of the epigenetic status of 15q11.2-q13.3 duplications was further underlined by analysis of a number of families, in which the duplication was paternally derived in the mother, who was unaffected, whereas her offspring, who inherited a maternally derived duplication, suffered from psychotic illness. Interestingly, the most consistent clinical characteristics of SZ patients with 15q11.2-q13.3 duplications were learning or developmental problems, found in 76% of carriers. Despite their lower pathogenicity, paternal duplications are less frequent in the general population with a general population prevalence of 0.0033% compared to 0.0069% for maternal duplications. This may be due to lower fecundity of male carriers and differential survival of embryos, something echoed in the findings that both types of duplications are de novo in just over 50% of cases. Isodicentric chromosome 15 (idic15 or interstitial triplications were not observed in SZ patients or in controls. Overall, this study refines the distinct roles of maternal and paternal interstitial duplications at 15q11.2-q13.3, underlining the critical importance of

  12. Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders

    Science.gov (United States)

    Isles, Anthony R.; Ingason, Andrés; Lowther, Chelsea; Gawlick, Micha; Stöber, Gerald; Potter, Harry; Georgieva, Lyudmila; Pizzo, Lucilla; Ozaki, Norio; Kushima, Itaru; Ikeda, Masashi; Iwata, Nakao; Levinson, Douglas F.; Gejman, Pablo V.; Shi, Jianxin; Sanders, Alan R.; Duan, Jubao; Sisodiya, Sanjay; Costain, Gregory; Degenhardt, Franziska; Giegling, Ina; Rujescu, Dan; Hreidarsson, Stefan J.; Saemundsen, Evald; Ahn, Joo Wook; Ogilvie, Caroline; Stefansson, Hreinn; Stefansson, Kari; O’Donovan, Michael C.; Owen, Michael J.; Bassett, Anne; Kirov, George

    2016-01-01

    Duplications at 15q11.2-q13.3 overlapping the Prader-Willi/Angelman syndrome (PWS/AS) region have been associated with developmental delay (DD), autism spectrum disorder (ASD) and schizophrenia (SZ). Due to presence of imprinted genes within the region, the parental origin of these duplications may be key to the pathogenicity. Duplications of maternal origin are associated with disease, whereas the pathogenicity of paternal ones is unclear. To clarify the role of maternal and paternal duplications, we conducted the largest and most detailed study to date of parental origin of 15q11.2-q13.3 interstitial duplications in DD, ASD and SZ cohorts. We show, for the first time, that paternal duplications lead to an increased risk of developing DD/ASD/multiple congenital anomalies (MCA), but do not appear to increase risk for SZ. The importance of the epigenetic status of 15q11.2-q13.3 duplications was further underlined by analysis of a number of families, in which the duplication was paternally derived in the mother, who was unaffected, whereas her offspring, who inherited a maternally derived duplication, suffered from psychotic illness. Interestingly, the most consistent clinical characteristics of SZ patients with 15q11.2-q13.3 duplications were learning or developmental problems, found in 76% of carriers. Despite their lower pathogenicity, paternal duplications are less frequent in the general population with a general population prevalence of 0.0033% compared to 0.0069% for maternal duplications. This may be due to lower fecundity of male carriers and differential survival of embryos, something echoed in the findings that both types of duplications are de novo in just over 50% of cases. Isodicentric chromosome 15 (idic15) or interstitial triplications were not observed in SZ patients or in controls. Overall, this study refines the distinct roles of maternal and paternal interstitial duplications at 15q11.2-q13.3, underlining the critical importance of maternally

  13. Top-down proteomics with mass spectrometry imaging: a pilot study towards discovery of biomarkers for neurodevelopmental disorders.

    Directory of Open Access Journals (Sweden)

    Hui Ye

    Full Text Available In the developing mammalian brain, inhibition of NMDA receptor can induce widespread neuroapoptosis, inhibit neurogenesis and cause impairment of learning and memory. Although some mechanistic insights into adverse neurological actions of these NMDA receptor antagonists exist, our understanding of the full spectrum of developmental events affected by early exposure to these chemical agents in the brain is still limited. Here we attempt to gain insights into the impact of pharmacologically induced excitatory/inhibitory imbalance in infancy on the brain proteome using mass spectrometric imaging (MSI. Our goal was to study changes in protein expression in postnatal day 10 (P10 rat brains following neonatal exposure to the NMDA receptor antagonist dizocilpine (MK801. Analysis of rat brains exposed to vehicle or MK801 and comparison of their MALDI MS images revealed differential relative abundances of several proteins. We then identified these markers such as ubiquitin, purkinje cell protein 4 (PEP-19, cytochrome c oxidase subunits and calmodulin, by a combination of reversed-phase (RP HPLC fractionation and top-down tandem MS platform. More in-depth large scale study along with validation experiments will be carried out in the future. Overall, our findings indicate that a brief neonatal exposure to a compound that alters excitatory/inhibitory balance in the brain has a long term effect on protein expression patterns during subsequent development, highlighting the utility of MALDI-MSI as a discovery tool for potential biomarkers.

  14. Seasonal affective disorder and non-seasonal affective disorders: results from the NESDA study

    Science.gov (United States)

    Roest, Annelieke M.; Bos, Elisabeth H.; Meesters, Ybe; Penninx, Brenda W.J.H.; Nolen, Willem A.; de Jonge, Peter

    2017-01-01

    Background Seasonal affective disorder (SAD) is considered to be a subtype of depression. Aims To compare the clinical picture of SAD to non-seasonal affective disorders (non-SADs). Method Diagnoses according to the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) were established in 2185 participants of the Netherlands Study of Depression and Anxiety. The Seasonal Pattern Assessment Questionnaire was administered to diagnose SAD. Symptoms of depression and anxiety were measured with the Inventory of Depressive Symptoms, the Beck Anxiety Inventory and the Fear Questionnaire. Results Participants with SAD, participants with a lifetime bipolar disorder and participants with a lifetime comorbid anxiety and depressive disorder scored highest in terms of psychopathology in the past year. The seasonal distribution of major depressive episodes was not different for participants with or without SAD. Conclusions SAD may be a measure of severity of depression with a subjectively perceived worsening of symptoms in the winter months. Declaration of interest Y.M. has received research funding and served as a consultant for Royal Philips Electronics NV and The Litebook Company Ltd. W.A.N. has received grants from the Netherlands Organization for Health Research and Development, the European Union, the Stanley Medical Research Institute, Astra Zeneca, Eli Lilly, GlaxoSmithKline and Wyeth; has received honoraria/speaker’s fees from Astra Zeneca, Pfizer, Servier and Wyeth; and has served in advisory boards for Astra Zeneca, Pfizer and Servier. Copyright and usage © The Royal College of Psychiatrists 2017. This is an open access article distributed under the terms of the Creative Commons Non-Commercial, No Derivatives (CC BY-NC-ND) license. PMID:28904813

  15. Seasonal affective disorder and non-seasonal affective disorders: results from the NESDA study.

    Science.gov (United States)

    Winthorst, Wim H; Roest, Annelieke M; Bos, Elisabeth H; Meesters, Ybe; Penninx, Brenda W J H; Nolen, Willem A; de Jonge, Peter

    2017-07-01

    Seasonal affective disorder (SAD) is considered to be a subtype of depression. To compare the clinical picture of SAD to non-seasonal affective disorders (non-SADs). Diagnoses according to the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) were established in 2185 participants of the Netherlands Study of Depression and Anxiety. The Seasonal Pattern Assessment Questionnaire was administered to diagnose SAD. Symptoms of depression and anxiety were measured with the Inventory of Depressive Symptoms, the Beck Anxiety Inventory and the Fear Questionnaire. Participants with SAD, participants with a lifetime bipolar disorder and participants with a lifetime comorbid anxiety and depressive disorder scored highest in terms of psychopathology in the past year. The seasonal distribution of major depressive episodes was not different for participants with or without SAD. SAD may be a measure of severity of depression with a subjectively perceived worsening of symptoms in the winter months. Y.M. has received research funding and served as a consultant for Royal Philips Electronics NV and The Litebook Company Ltd. W.A.N. has received grants from the Netherlands Organization for Health Research and Development, the European Union, the Stanley Medical Research Institute, Astra Zeneca, Eli Lilly, GlaxoSmithKline and Wyeth; has received honoraria/speaker's fees from Astra Zeneca, Pfizer, Servier and Wyeth; and has served in advisory boards for Astra Zeneca, Pfizer and Servier. © The Royal College of Psychiatrists 2017. This is an open access article distributed under the terms of the Creative Commons Non-Commercial, No Derivatives (CC BY-NC-ND) license.

  16. The Neurobiology of Retinoic Acid in Affective Disorders

    OpenAIRE

    Bremner, J. Douglas; McCaffery, Peter

    2007-01-01

    Current models of affective disorders implicate alterations in norepinephrine, serotonin, dopamine, and CRF/cortisol; however treatments targeted at these neurotransmitters or hormones have led to imperfect resolution of symptoms, suggesting that the neurobiology of affective disorders is incompletely understood. Until now retinoids have not been considered as possible contributors to affective disorders. Retinoids represent a family of compounds derived from Vitamin A that perform a large nu...

  17. Salivary cortisol in unaffected twins discordant for affective disorder

    DEFF Research Database (Denmark)

    Vinberg, Maj; Bennike, Bente; Kyvik, Kirsten Ohm

    2008-01-01

    Dysfunction in the hypothalamic-pituitary-adrenal (HPA) axis has been proposed as a biological endophenotype for affective disorders. In the present study the hypothesis that a high genetic liability to affective disorder is associated with higher cortisol levels was tested in a cross-sectional h......Dysfunction in the hypothalamic-pituitary-adrenal (HPA) axis has been proposed as a biological endophenotype for affective disorders. In the present study the hypothesis that a high genetic liability to affective disorder is associated with higher cortisol levels was tested in a cross...

  18. Oxytocin and social cognition in affective and psychotic disorders.

    Science.gov (United States)

    Mercedes Perez-Rodriguez, M; Mahon, Katie; Russo, Manuela; Ungar, Allison K; Burdick, Katherine E

    2015-02-01

    Impairments in social cognition are now recognized as core illness features in psychotic and affective disorders. Despite the significant disability caused by social cognitive abnormalities, treatments for this symptom dimension are lacking. Here, we describe the evidence demonstrating abnormalities in social cognition in schizophrenia, major depressive disorder, and bipolar disorder, as well as the neurobiology of social cognition including the role of oxytocin. We then review clinical trials of oxytocin administration in psychotic and affective disorders and the impact of this agent on social cognition. To date, several studies have demonstrated that oxytocin may improve social cognition in schizophrenia; too few studies have been conducted in affective disorders to determine the effect of oxytocin on social cognition in these disorders. Future work is needed to clarify which aspects of social cognition may be improved with oxytocin treatment in psychotic and affective disorders. Copyright © 2014 Elsevier B.V. and ECNP. All rights reserved.

  19. Oxytocin and Social Cognition in Affective and Psychotic Disorders

    Science.gov (United States)

    Perez-Rodriguez, M. Mercedes; Mahon, Katie; Russo, Manuela; Ungar, Allison K.; Burdick, Katherine E.

    2014-01-01

    Impairments in social cognition are now recognized as core illness features in psychotic and affective disorders. Despite the significant disability caused by social cognitive abnormalities, treatments for this symptom dimension are lacking. Here, we describe the evidence demonstrating abnormalities in social cognition in schizophrenia, major depressive disorder, and bipolar disorder, as well as the neurobiology of social cognition including the role of oxytocin. We then review clinical trials of oxytocin administration in psychotic and affective disorders and the impact of this agent on social cognition. To date, several studies have demonstrated that oxytocin may improve social cognition in schizophrenia; too few studies have been conducted in affective disorders to determine the effect of oxytocin on social cognition in these disorders. Future work is needed to clarify which aspects of social cognition may be improved with oxytocin treatment in psychotic and affective disorders. PMID:25153535

  20. Descriptive epidemiology of affective disorders in multiple sclerosis.

    Science.gov (United States)

    Patten, Scott B; Svenson, Lawrence W; Metz, Luanne M

    2005-05-01

    Affective disorders present an important clinical challenge in multiple sclerosis (MS). Due to prohibitive sample size requirements, population-based studies have not yet provided an adequate description of the underlying epidemiology of this association. To describe the epidemiology of affective disorders in MS in a general population sample. The study presented here accessed administrative data from a universal healthcare insurance plan in the Canadian province of Alberta. Physician billing data recorded in the Alberta Health Care Insurance Plan was used to identify members of the population >15 years of age with and without MS. Crude and stratified estimates of the association between affective disorders and MS were made. Logistic regression analysis was used to evaluate statistical interactions and to provide adjusted estimates of the association. The estimated prevalence of MS in the population within the targeted age range (2.3 million individuals) was 386/100,000 and that of affective disorders was 7.7%. As expected, an association between MS and affective disorders was identified (crude relative prevalence: 2.2). The association varied in strength over age-sex categories. Although the prevalence of affective disorder was higher in women with MS than men with MS, the association of MS with affective disorders was stronger in men. The strength of association declined with age in both men and women. Affective disorder prevalence in people with MS becomes similar to that of the general population in older age groups. Affective disorders occur with an increased frequency in MS. This is true in men and women and across all relevant age groups, although the association gets weaker with advancing age. Higher frequencies of affective disorder occur in women with MS than in men with MS. The frequency of affective disorder in people with MS is highest in the 25-44 age group, and declines in older age categories.

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

    Science.gov (United States)

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

    2015-06-01

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

  2. Treatment-refractory, juvenile-onset bipolar affective disorder

    OpenAIRE

    Vijay Sagar, K. John

    2005-01-01

    A case of juvenile-onset bipolar affective disorder with a childhood history of attention-deficit hyperactivity disorder (ADHD) is presented. As the patient was refractory to treatment with mood stabilizers, clozapine was given, which succeeded in achieving remission. The disorder's natural history needs further study. Data also need to be collected for optimal pharmacotherapeutic guidance.

  3. Copy number variations in affective disorders and meta-analysis

    DEFF Research Database (Denmark)

    Olsen, Line; Hansen, Thomas; Djurovic, Srdjan

    2011-01-01

    In two recent studies 10 copy number variants (CNV) were found to be overrepresented either among patients suffering from affective disorders in an Amish family or in the Wellcome Trust Case-Control Consortium study. Here, we investigate if these variants are associated with affective disorders...

  4. 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.

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

    DEFF Research Database (Denmark)

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

    2016-01-01

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

  6. Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases

    OpenAIRE

    Blackburn, Patrick; Barnett, Sarah S.; Zimmermann, Michael T.; Cousin, Margot A.; Kaiwar, Charu; Pinto e Vairo,Filippo; Niu, Zhiyv; Ferber, Matthew J.; Urrutia, Raul A.; Selcen, Duygu; Eric W. Klee; Pichurin, Pavel N.

    2017-01-01

    Pathogenic variants in EBF3 were recently described in three back-to-back publications in association with a novel neurodevelopmental disorder characterized by intellectual disability, speech delay, ataxia, and facial dysmorphisms. In this report, we describe an additional patient carrying a de novo missense variant in EBF3 (c.487C>T, p.(Arg163Trp)) that falls within a conserved residue in the zinc knuckle motif of the DNA binding domain. Without a solved structure of the DNA binding domain, ...

  7. Bipolar Disorder and Early Affective Trauma.

    Science.gov (United States)

    de Codt, Aloise; Monhonval, Pauline; Bongaerts, Xavier; Belkacemi, Ikram; Tecco, Juan Martin

    2016-09-01

    Bipolar disorder is a chronic psychiatric disease with a high prevalence and is a major psychosocial and medical burden. The exact etiological pathways of bipolar disorder are not fully understood. Genetic factors are known to play an important role in the etiology of bipolar disorder. However, high rates of discordance among identical twins and a growing body of evidence that environmental factors such as early stress can influence the onset and course of psychiatric diseases underline the importance of additional etiological mechanisms of bipolar disorders. There has been little investigation about early trauma in bipolar disorder. The aim of this study was to review the literature on the association between early traumatic interactions like child neglect, mistreatment, abuse or early parental separation and the occurrence of bipolar disorder in adulthood or impact on the course of the disease. Studies investigating associations between child neglect, mistreatment, abuse or early parental separation and occurrence of bipolar disorder in adulthood or impact on the course of the disease were searched in the Pubmed database. More than 700 articles were sorted independently by two of the authors using predefined criteria. Only research articles, reviews and meta-analyses were selected for this review. 53 articles met the inclusion criteria. To date, four systematic reviews partially addressed our research question. Early trauma is more frequently found in the past of bipolar patients than in the general population. Studies support a harmful effect of childhood trauma on the course of bipolar disease, with more anxious, depressive or psychotic symptoms, an early age of onset and a worse prognosis. Early trauma is more often found in the past of bipolar adult patients than the general population and studies support a harmful effect of childhood trauma on the course of bipolar disease, with more anxious, depressive or psychotic symptoms, an early age of onset and a

  8. Psychological therapies for preventing seasonal affective disorder.

    Science.gov (United States)

    Forneris, Catherine A; Nussbaumer, Barbara; Kaminski-Hartenthaler, Angela; Morgan, Laura C; Gaynes, Bradley N; Sonis, Jeffrey H; Greenblatt, Amy; Wipplinger, Jörg; Lux, Linda J; Winkler, Dietmar; Van Noord, Megan G; Hofmann, Julia; Gartlehner, Gerald

    2015-11-11

    Seasonal affective disorder (SAD) is a seasonal pattern of recurrent major depressive episodes that most commonly occurs during autumn or winter and remits in spring. The prevalence of SAD ranges from 1.5% to 9%, depending on latitude. The predictable seasonal aspect of SAD provides a promising opportunity for prevention. This is one of four reviews on the efficacy and safety of interventions to prevent SAD; we focus on psychological therapies as preventive interventions. To assess the efficacy and safety of psychological therapies (in comparison with no treatment, other types of psychological therapy, second-generation antidepressants (SGAs), light therapy, melatonin or agomelatine or lifestyle interventions) in preventing SAD and improving patient-centred outcomes among adults with a history of SAD. We conducted a search of the Cochrane Depression, Anxiety and Neurosis Review Group Specialised Register (CCDANCTR) to 11 August 2015. The CCDANCTR contains reports of relevant randomised controlled trials from EMBASE (1974 to date), MEDLINE (1950 to date), PsycINFO (1967 to date) and the Cochrane Central Register of Controlled Trials (CENTRAL). Furthermore, we searched the Cumulative Index to Nursing and Allied Health Literature (CINAHL), Web of Knowledge, The Cochrane Library and the Allied and Complementary Medicine Database (AMED) (to 26 May 2014). We conducted a grey literature search (e.g. in clinical trial registries) and handsearched the reference lists of all included studies and pertinent review articles. To examine efficacy, we planned to include randomised controlled trials on adults with a history of winter-type SAD who were free of symptoms at the beginning of the study. To examine adverse events, we intended to include non-randomised studies. We planned to include studies that compared psychological therapy versus any other type of psychological therapy, placebo, light therapy, SGAs, melatonin, agomelatine or lifestyle changes. We also intended to

  9. Neurobehavioural and neurodevelopmental effects of pesticide exposures

    Science.gov (United States)

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

    2012-01-01

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

  10. Bipolar affective disorder, pregnancy and childbirth: clinical characteristics and heredity

    Directory of Open Access Journals (Sweden)

    Rositsa Vladimirova

    2016-09-01

    Full Text Available Bipolar affective disorder has higher frequency among women of reproductive age and can relapse both during pregnancy and immediately after childbirth. The presence of family history is one of the leading risk factors for bipolar affective disorder. A cross-sectional study was performed as part of a large naturalistic study. It included 81 women with pronounced symptoms of bipolar disorder who required hospitalization. The clinical method included comprehensive assessment of patients in the cohort, assessment of the severity of symptoms and the family history. The results showed that more than 50% of the women were at an average age of 25 years and experienced bipolar affective disorder mostly in the first and third trimester, whereas, in the puerperal period, the risk was highest in the first two weeks after childbirth. There was previous history of bipolar affective disorder in about 50% of the women. In 55.6% of the women, there was family history of bipolar affective disorder. The presence of previous history of bipolar affective disorder, first-degree family history and pregnancy at later age were shown to be risk factors for a new relapse during pregnancy and after childbirth. Clinical expression of manic–psychotic symptoms was more typical of the period of lactation than manic symptoms, which were associated rather with younger age and the period of pregnancy. In the studied cohort of patients, the risk of repeatability of affective episodes was significantly higher with each subsequent pregnancy.

  11. Bipolar Affective Disorder and Parkinson's Disease

    Directory of Open Access Journals (Sweden)

    Birk Engmann

    2011-01-01

    Full Text Available Little is known about comorbidities of bipolar disorder such as Parkinson's disease. A case history and a literature survey indicate that bipolar disorder is linked with or influences Parkinson's disease and vice versa. Underlying mechanisms are poorly understood, and, more importantly, no treatment options are established in such double diagnoses. The few data in comorbid Parkinson cases seem to point to a rapid cycling pattern of bipolar symptoms. With regard to therapeutic intervention, the literature supports pramipexole for treatment of both Parkinson and depressive symptoms in bipolar depression. Lithium, the mood stabilizer of choice for treating manic states, is problematical for use in Parkinson patients because of its side effects. Valproate might be an alternative, especially for treatment of rapid cycling.

  12. Studies of anticipation in bipolar affective disorder.

    Science.gov (United States)

    Lange, Kezia J; McInnis, Melvin G

    2002-03-01

    Anticipation refers to the increase in disease severity or decrease in age of onset in successive generations. The concept evolved from the theories and dogma of degeneration that were pervasive in psychiatry and medicine in the late 19th century and into the early 20th century. The term was set aside with the criticism of geneticist Lionel Penrose, who argued that anticipation was the result of ascertainment biases. The renewed interest in anticipation followed the identification of its molecular genetic basis in the form of unstable trinucleotide repeats. Subsequently, several diseases have been studied clinically for the presence of anticipation. Although anticipation has been identified in many diseases, including bipolar disorder, only diseases showing a pattern of progressive neurodegeneration have been associated with unstable trinucleotide repeats. This review summarizes the research on anticipation in bipolar disorder and other secular trends in the patterns of the illness such as the cohort effect. The changing nature of bipolar disorder is likely to be a result of combined influences from several genes, some of which are likely to be in a state of flux, as well as environmental or cultural forces that converge to give the clinical picture of anticipation.

  13. Light therapy for preventing seasonal affective disorder.

    Science.gov (United States)

    Nussbaumer, Barbara; Kaminski-Hartenthaler, Angela; Forneris, Catherine A; Morgan, Laura C; Sonis, Jeffrey H; Gaynes, Bradley N; Greenblatt, Amy; Wipplinger, Jörg; Lux, Linda J; Winkler, Dietmar; Van Noord, Megan G; Hofmann, Julia; Gartlehner, Gerald

    2015-11-08

    Seasonal affective disorder (SAD) is a seasonal pattern of recurrent major depressive episodes that most commonly occurs during autumn or winter and remits in spring. The prevalence of SAD ranges from 1.5% to 9%, depending on latitude. The predictable seasonal aspect of SAD provides a promising opportunity for prevention. This review - one of four reviews on efficacy and safety of interventions to prevent SAD - focuses on light therapy as a preventive intervention. Light therapy is a non-pharmacological treatment that exposes people to artificial light. Mode of delivery (e.g. visors, light boxes) and form of light (e.g. bright white light) vary. To assess the efficacy and safety of light therapy (in comparison with no treatment, other types of light therapy, second-generation antidepressants, melatonin, agomelatine, psychological therapies, lifestyle interventions and negative ion generators) in preventing SAD and improving patient-centred outcomes among adults with a history of SAD. A search of the Specialised Register of the Cochrane Depression, Anxiety and Neuorosis Review Group (CCDANCTR) included all years to 11 August 2015. The CCDANCTR contains reports of relevant randomised controlled trials derived from EMBASE (1974 to date), MEDLINE (1950 to date), PsycINFO (1967 to date) and the Cochrane Central Register of Controlled Trails (CENTRAL). Furthermore, we searched the Cumulative Index to Nursing and Allied Health Literature (CINAHL), Web of Knowledge, The Cochrane Library and the Allied and Complementary Medicine Database (AMED) (to 26 May 2014). We also conducted a grey literature search and handsearched the reference lists of all included studies and pertinent review articles. For efficacy, we included randomised controlled trials on adults with a history of winter-type SAD who were free of symptoms at the beginning of the study. For adverse events, we also intended to include non-randomised studies. We intended to include studies that compared any type of

  14. Prevalence of Maternal Affective Disorders in Chinese Mothers of Preschool Children with Autism Spectrum Disorders.

    Science.gov (United States)

    Yu, Y W; Chung, K H; Lee, Y K; Lam, W C; Yiu, M Gc

    2016-12-01

    To evaluate the prevalence of affective disorders and identify their associated factors among Chinese mothers of preschool children diagnosed with autism spectrum disorders. This cross-sectional study was conducted at the Autism Spectrum Disorders Multidisciplinary Clinic of the United Christian Hospital from August 2012 to June 2013. All mothers of a consecutive series of preschool children diagnosed with autism spectrum disorders at their first visit to the clinic were recruited. Information regarding the child-related, maternal, and environmental factors was collected. Psychiatric diagnoses were made according to the Chinese-Bilingual Structured Clinical Interview for DSM-IV Axis I Disorders. Independent factors associated with maternal affective disorders were determined by univariate and multivariate analyses. Of the 121 subjects, the point prevalence of affective disorders as a group was 29.8%. The point prevalence of major depressive disorders, adjustment disorders, anxiety disorders, and bipolar affective disorders was 14.9%, 10.7%, 3.3% and 0.8%, respectively. A higher level of disruptive and self-absorbed behaviours in the children (as assessed by the Developmental Behaviour Checklist), a higher level of affiliate stigma (as assessed by 22-item Affiliate Stigma Scale), and a history of psychiatric disorders were independently associated with current affective disorders. Psychiatric disorders, predominantly affective disorders, are common among Chinese mothers of preschool children with autism spectrum disorders. Identification of independent factors associated with maternal affective disorders can aid in the early detection of cases and planning of early intervention programmes to address both child and maternal psychological needs.

  15. Personality traits in unaffected twins discordant for affective disorder

    DEFF Research Database (Denmark)

    Vinberg, M; Kyvik, Kirsten Ohm; Mortensen, E L

    2007-01-01

    OBJECTIVE: To examine whether a high genetic liability to develop affective disorder is associated with specific personality traits. METHOD: A cross-sectional, high-risk, case-control study. Through nation-wide registers, healthy monozygotic (MZ) and dizygotic (DZ) twins with (high-risk twins......) and without (the control group/low-risk twins) a co-twin history of affective disorder were identified. Personality traits were compared for a total of 211 high-risk and low-risk twins. RESULTS: In univariate analyses, the high-risk twins had a higher level of neuroticism than the control twins (P = 0.......03). In multivariate analyses, a high genetic liability to affective disorder was not significantly associated with neuroticism but correlated to sex, minor psychopathology and recent life events. CONCLUSION: A high genetic liability to affective disorder showed an association with neuroticism, but the association...

  16. Seasonal affective disorder, winter type: current insights and treatment options

    National Research Council Canada - National Science Library

    Meesters Y; Gordijn MCM

    2016-01-01

    ...., Groningen, the Netherlands Abstract: Seasonal affective disorder (SAD), winter type, is a seasonal pattern of recurrent major depressive episodes most commonly occurring in autumn or winter and remitting in spring/summer...

  17. Affect regulation and psychopathology in women with borderline personality disorder

    DEFF Research Database (Denmark)

    Simonsen, Erik; Andersen, Rune; Timmerby, Nina

    2012-01-01

    INTRODUCTION: Dysfunction in affect regulation is a prominent feature that grossly impairs behavioural and interpersonal domains of experience and underlies a great deal of the psychopathology in borderline personality disorder (BPD). However, no study has yet been published that evaluates...

  18. Impairments in facial affect recognition associated with autism spectrum disorders: a meta-analysis.

    Science.gov (United States)

    Lozier, Leah M; Vanmeter, John W; Marsh, Abigail A

    2014-11-01

    Autism spectrum disorders (ASDs) are characterized by social impairments, including inappropriate responses to affective stimuli and nonverbal cues, which may extend to poor face-emotion recognition. However, the results of empirical studies of face-emotion recognition in individuals with ASD have yielded inconsistent findings that occlude understanding the role of face-emotion recognition deficits in the development of ASD. The goal of this meta-analysis was to address three as-yet unanswered questions. Are ASDs associated with consistent face-emotion recognition deficits? Do deficits generalize across multiple emotional expressions or are they limited to specific emotions? Do age or cognitive intelligence affect the magnitude of identified deficits? The results indicate that ASDs are associated with face-emotion recognition deficits across multiple expressions and that the magnitude of these deficits increases with age and cannot be accounted for by intelligence. These findings suggest that, whereas neurodevelopmental processes and social experience produce improvements in general face-emotion recognition abilities over time during typical development, children with ASD may experience disruptions in these processes, which suggested distributed functional impairment in the neural architecture that subserves face-emotion processing, an effect with downstream developmental consequences.

  19. Risperidone Mono - Therapy as Prophylaxis in Bipolar Affective Disorders

    OpenAIRE

    Trivedi, Mohit; Pinto, Denzil; Safeekh, A.T.

    2004-01-01

    Risperidone has been found to be useful in the treatment of acute bipolar disorders. This is a case report where risperidone mono therapy has been found to be effective in prophylaxis of bipolar affective disorder. The pharmacological and clinical implications of risperidone in the management of BPAD are discussed

  20. An Autistic Male Presenting Seasonal Affective Disorder (SAD) and Trichotillomania.

    Science.gov (United States)

    Kurita, Hiroshi; Nakayasu, Nobuo

    1994-01-01

    This paper presents a case report of a young adult Japanese male with infantile autism who also met diagnostic criteria for seasonal affective disorder and trichotillomania (compulsive hair pulling). The case report deals with difficulties in diagnosing mood disorder in such individuals, potential treatment effectiveness of valproic acid, and…

  1. Theoretical and clinical overview of affective temperaments in mood disorders

    Directory of Open Access Journals (Sweden)

    Xenia Gonda

    2015-07-01

    Full Text Available Temperaments are imperturbable variations of personality, traits and ways of reacting to the environment that characterize individuals and remain constant throughout several different situations. Temperaments usually play a central role in determining emotional reactions, therefore several temperamental models have attempted to establish the potential relationship between temperaments and affective disorders. According to Hagop Akiskal, affective temperaments are subclinical and subaffective trait-like manifestations of affective disorders. Unlike several models of temperament which were exclusively developed theoretically in order to describe healthy human functioning, later extrapolated to capture the pathological domains of mental and behavioral features, the current model of affective temperaments was developed on classical traditions and mainly based on the observation of subjects with mood disorders and their healthy first degree relatives. There is accumulating evidence concerning the development of affective temperaments based on their adaptive evolutionary characteristics and genetic background, and normative data from large national studies on general and healthy samples indicate their universal characteristics. Studies in affective patient populations indicate that the relationship between affective temperaments and affective illness is more complex than a simple extrapolation from psychopathology and mental health, and affective temperaments may represent a latent state of the staging model, playing a pathoplastic role in mood disorders determining their evolution, clinical features, main characteristics and outcome. A large body of data on affective temperaments has been published during the last decade, deserving a critical analysis presented in this overview.

  2. Implicit affectivity in patients with borderline personality disorder.

    Science.gov (United States)

    Dukalski, Bibiana; Quirin, Markus; Kersting, Anette; Suslow, Thomas; Donges, Uta-Susan

    2017-01-01

    It has been argued that borderline personality disorder (BPD) is related to an enhanced affective reactivity. According to findings from research based on self-report, individuals with BPD develop and feel more negative and less positive affect than healthy individuals. Implicit affectivity, which can be measured using indirect assessment methods, relates to processes of the impulsive, intuitive system. In the present study, implicit and explicit affectivity was examined in patients suffering from BPD compared to healthy persons. Thirty-five women with BPD and 35 healthy women participated in the study. Implicit affectivity was assessed using the Implicit Positive and Negative Affect Test (IPANAT). Measures of explicit state and trait affectivity were also administered. BPD women had lower explicit positive state and trait affect scores and higher negative state and trait affect scores than healthy women. They had also lower implicit positive affect but they did not differ from healthy women regarding implicit negative affect. Total number of comorbid disorders was correlated with both implicit positive and implicit negative affect. According to our data, BPD patients exhibit reduced implicit positive affect as well as reduced explicit positive affect compared to healthy persons. According to our IPANAT data, BPD patients are characterized by a normal disposition to develop negative affective reactions which is in line with a number of findings from psycho-physiological research on BPD. Self-reports of negative affectivity in BPD could be biased by negative distortion.

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

    Science.gov (United States)

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

    2015-01-01

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

  4. Affective instability in borderline personality disorder: experience sampling findings.

    Science.gov (United States)

    Nica, Elena Irina; Links, Paul S

    2009-02-01

    Affective instability, defined as repeated, rapid, and abrupt shifts in mood, is considered the core pathology in borderline personality disorder. The temporal pattern of affective instability can be best captured with the experience sampling method-longitudinal assessment of people's affective states as they occur in real time and in their natural environment. A review of the experience sampling studies published to date for borderline personality disorder suggests the following mood variability pattern: intense negative mood, more frequent and abrupt mood changes than healthy controls and patients with major depression, and partial triggering of affect by external events. The method also has great potential to investigate the links between affective instability and other psychological and behavioral correlates of the disorder, such as suicide, lack of self-esteem, and erratic behaviors. However, the method requires systematic study to determine best data collection designs and mathematical models of mood variability.

  5. Quality of life in unaffected twins discordant for affective disorder

    DEFF Research Database (Denmark)

    Vinberg, Maj; Bech, Per; Kyvik, Kirsten Ohm

    2006-01-01

    BACKGROUND: The disability and hardship associated with affective disorder is shared by the family members of affective patients and might affect the family member's quality of life. METHOD: In a cross-sectional, high-risk, case-control study, monozygotic (MZ) and dizygotic (DZ) twins with (High......-Risk twins) and without (the control group/Low-Risk twins) a co-twin history of affective disorder were identified through nationwide registers. The aim of the present study was to investigate the hypothesis that a genetic liability to affective disorder is associated with a lower perception of quality...... of life. RESULTS: Univariate analyses showed that quality of life in all domains was impaired for the 121 High-Risk twins compared to the 84 Low-Risk twins. In multiple regression analyses, the differences remained significant after adjustment for sex, age, marital status and years of education. Adjusted...

  6. Coping styles in healthy individuals at risk of affective disorder

    DEFF Research Database (Denmark)

    Vinberg, Maj; Froekjaer, Vibe Gedsoe; Kessing, Lars Vedel

    2010-01-01

    .001) and Avoidance coping (p = 0.04) than individuals not at risk. Adjusted for gender, age, years of education, and recent stressful life events the high-risk individuals used more emotion-oriented coping (p = 0.03). In conclusion, maladaptive coping style may represent a trait marker for mood disorder improving......Coping styles may influence the perceived life stress experienced by an individual and, therefore, also be critical in the development of affective disorders. This study examined whether familial risk of affective disorder is associated with the use of maladaptive coping styles, in healthy...... maladaptive coping styles may be a target for selective prevention focusing on subgroups at high risk of developing an affective disorder....

  7. Coping styles in healthy individuals at risk of affective disorder

    DEFF Research Database (Denmark)

    Vinberg, Maj; Froekjaer, Vibe Gedsoe; Kessing, Lars Vedel

    2010-01-01

    Coping styles may influence the perceived life stress experienced by an individual and, therefore, also be critical in the development of affective disorders. This study examined whether familial risk of affective disorder is associated with the use of maladaptive coping styles, in healthy.......001) and Avoidance coping (p = 0.04) than individuals not at risk. Adjusted for gender, age, years of education, and recent stressful life events the high-risk individuals used more emotion-oriented coping (p = 0.03). In conclusion, maladaptive coping style may represent a trait marker for mood disorder improving...... maladaptive coping styles may be a target for selective prevention focusing on subgroups at high risk of developing an affective disorder....

  8. Analysis of affective disorders in patients with vascular dementia

    Directory of Open Access Journals (Sweden)

    D. V. Zakharchenko

    2012-01-01

    Full Text Available The outpatient records of 147 patients followed up for diagnosed vascular dementia were analyzed to assess the relationship between affective disorders and severe cognitive impairments. It was found that 7% of the examinees had a history of depressive states. Estimating the development time for vascular dementia could divide the patients into 2 groups: 1 60% of the patients in whom cognitive impairments began to determine its clinical picture just within the first 2 years after identification of affective disorders and 2 40%, in whom cognitive impairments occurred 10—20 years later. In both groups, mental disorders occurred at an equal age in the presence of depressive disorders; in Group 1, vascular dementia developed nearly twice as often as that in Group 2. At the same time, the occurrence of cognitive impairments in Group 1 patients just in the early disease stages is indicative of the organic genesis of affective disorders, as confirmed by the moderately rapid progression of psychopathological symptoms, such as sharpening of personality traits, increased rigidity of psychic processes, emotional lability, variations in affective symptomatology, inadequate remissions, and the presence of neurological symptoms. Another type of a ratio of depressive to severe cognitive disorders was found in the elderly persons in Group 2. The long existence of affective disorders without signs of cognitive diminution leads one to say that they have recurrent depressive disorder with further addition of a comorbid vascular process. These patients showed a fairly high severity of affective pathology that was responsible for more frequent admissions, as well as a phase course with relatively pure remissions without any clear intellectual-mnestic reduction and a predominance of hysterical character traits.

  9. Skin disorders affecting the feet | Motswaledi | South African Family ...

    African Journals Online (AJOL)

    Skin disorders of the feet can affect the glabrous skin on the dorsal aspects, or the thick skin on the plantar aspects, thereof, or both. Some can affect one foot, and others both of them. These diseases can be inflammatory, genetically inherited, infectious and neoplastic in origin. It is important to identify them and to start ...

  10. Trajectories Leading to Autism Spectrum Disorders Are Affected by Paternal Age: Findings from Two Nationally Representative Twin Studies

    Science.gov (United States)

    Lundstrom, Sebastian; Haworth, Claire M. A.; Carlstrom, Eva; Gillberg, Christopher; Mill, Jonathan; Rastam, Maria; Hultman, Christina M.; Ronald, Angelica; Anckarsater, Henrik; Plomin, Robert; Lichtenstein, Paul; Reichenberg, Abraham

    2010-01-01

    Background: Despite extensive efforts, the causes of autism remain unknown. Advancing paternal age has been associated with various neurodevelopmental disorders. We aim to investigate three unresolved questions: (a) What is the association between paternal age and autism spectrum disorders (ASD)?; (b) Does paternal age moderate the genetic and…

  11. Course and cognitive outcome in major affective disorder

    DEFF Research Database (Denmark)

    Kessing, Lars Vedel

    2015-01-01

    function as an expression of brain function affected during a longer period. Previous studies of the course of affective episodes are flawed by a number of drawbacks such as various definitions of recovery and recurrence, various kinds of bias and confounders, low statistical power, and statistical...... as an expression of an affective episode. On average, a progressive course with increasing risk of recurrence with every new episode was found for unipolar and bipolar affective disorders. Initially, the two types of disorders followed markedly different courses, but later in the course of the illness the risk...... of illness played a role. The chances of recovery from an episode were found not to change during the course of unipolar or bipolar disorder. In contrast, a review of studies from the era before active treatment revealed that the duration of untreated episodes seemed to increase during the course of illness...

  12. Identification of an age-dependent biomarker signature in children and adolescents with autism spectrum disorders

    NARCIS (Netherlands)

    Ramsey, J.M.; Guest, P.C.; Broek, J.A.C.; Glennon, J.C.; Rommelse, N.N.; Franke, B.; Rahmoune, H.; Buitelaar, J.K.; Bahn, S.

    2013-01-01

    BACKGROUND: Autism spectrum disorders (ASDs) are neurodevelopmental conditions with symptoms manifesting before the age of 3, generally persisting throughout life and affecting social development and communication. Here, we have investigated changes in protein biomarkers in blood during childhood

  13. Identification of an age-dependent biomarker signature in children and adolescents with autism spectrum disorders

    NARCIS (Netherlands)

    J.M. Ramsey (Jordan); P.C. Guest (Paul); J.A.C. Broek (Jantine A.); J.C. Glennon (Jeffrey C); N. Rommelse (Nanda); B. Franke (Barbara); H. Rahmoune (Hassan); J.K. Buitelaar (Jan); S. Bahn (Sabine)

    2013-01-01

    textabstractBackground: Autism spectrum disorders (ASDs) are neurodevelopmental conditions with symptoms manifesting before the age of 3, generally persisting throughout life and affecting social development and communication. Here, we have investigated changes in protein biomarkers in blood during

  14. 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.

  15. Abnormal hypothalamic response to light in Seasonal Affective Disorder

    OpenAIRE

    Vandewalle, Gilles; Hébert, M.; C. Beaulieu; Richard, L; Daneault, V.; Garon, M.-L.; LeBlanc, J; Grandjean, D.; Maquet, Pierre; Schwartz, S; M. Dumont; Doyon, J.; Carrier, J

    2011-01-01

    Vulnerability to the reduction in natural light associated with fall/winter is generally accepted as the main trigger of seasonal affective disorder (SAD), whereas light therapy is a treatment of choice of the disorder. However, the relationship between exposure to light and mood regulation remains unclear. As compared with green light, blue light was shown to acutely modulate emotion brain processing in healthy individuals. Here, we investigated the impact of light on emotion brain processin...

  16. Disrupted startle modulation in animal models for affective disorders.

    Science.gov (United States)

    Bijlsma, E Y; Oosting, R S; Olivier, B; Groenink, L

    2010-04-02

    Affective startle modulation is used to study emotional reactivity in humans, and blunted affective startle modulation has been reported in depressed patients. To determine whether blunted affective startle modulation is also a common feature in animal models for affective disorders, light-enhanced startle was studied in three models: inescapable foot shock (IFS), repeated restraint stress (RRS) and olfactory bulbectomy (OBX). In addition, prepulse inhibition was studied in these models. Light-enhanced startle was blunted following IFS and OBX and RRS decreased overall startle responding. Prepulse inhibition, however, was unaffected. These findings indicate that induction models for affective disorders may be associated with long term effects on affective startle modulation. The lack of changes in sensory motor gating suggests that these changes can be ascribed to alterations in emotional reactivity. In conclusion, our results indicate that the blunted affective startle modulation seen in animal models for affective disorders may be used to examine the mechanisms underlying altered emotional reactivity. Copyright 2009 Elsevier B.V. All rights reserved.

  17. Predictors of recurrence in affective disorder - analyses accounting for individual heterogeneity

    DEFF Research Database (Denmark)

    Kessing, Lars Vedel; Andersen, Elisabeth Anne Wreford; Andersen, Per Kragh

    2000-01-01

    affective disorder, depression, unipolar, bipolar, recurrence, predictors, life event, individual heterogeneity......affective disorder, depression, unipolar, bipolar, recurrence, predictors, life event, individual heterogeneity...

  18. Seasonal Affective Disorder: An Overview of Assessment and Treatment Approaches.

    Science.gov (United States)

    Melrose, Sherri

    2015-01-01

    Seasonal affective disorder or SAD is a recurrent major depressive disorder with a seasonal pattern usually beginning in fall and continuing into winter months. A subsyndromal type of SAD, or S-SAD, is commonly known as "winter blues." Less often, SAD causes depression in the spring or early summer. Symptoms center on sad mood and low energy. Those most at risk are female, are younger, live far from the equator, and have family histories of depression, bipolar disorder, or SAD. Screening instruments include the Seasonal Pattern Assessment Questionnaire (SPAQ). Typical treatment includes antidepressant medications, light therapy, Vitamin D, and counselling. This paper provides an overview of SAD.

  19. Sense of humor disorders in patients with schizophrenia and affective disorders

    Directory of Open Access Journals (Sweden)

    Enikolopov, Sergey N.

    2014-03-01

    Full Text Available The article presents an empirical study of sense of humor disorders in patients with schizophrenia and affective disorders. Several parameters of analysis are distinguished: humor recognition, humor preferences and the level of laughing activity. It is showed that patients with schizophrenia are characterized by inability to recognize humor. As soon as patients with schizotypal disorder do recognize humor, this may be used as a diagnostic criterion in clinical practice. Sense of humor in patients with schizophrenia and affective disorders acquires peculiarities which are defined here as preferences of certain cognitive mechanisms and topics of jokes.

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

    Science.gov (United States)

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

    2010-04-01

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

  1. Variants in TTC25 affect autistic trait in patients with autism spectrum disorder and general population.

    Science.gov (United States)

    Vojinovic, Dina; Brison, Nathalie; Ahmad, Shahzad; Noens, Ilse; Pappa, Irene; Karssen, Lennart C; Tiemeier, Henning; van Duijn, Cornelia M; Peeters, Hilde; Amin, Najaf

    2017-08-01

    Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder with a complex genetic architecture. To identify genetic variants underlying ASD, we performed single-variant and gene-based genome-wide association studies using a dense genotyping array containing over 2.3 million single-nucleotide variants in a discovery sample of 160 families with at least one child affected with non-syndromic ASD using a binary (ASD yes/no) phenotype and a quantitative autistic trait. Replication of the top findings was performed in Psychiatric Genomics Consortium and Erasmus Rucphen Family (ERF) cohort study. Significant association of quantitative autistic trait was observed with the TTC25 gene at 17q21.2 (effect size=10.2, P-value=3.4 × 10-7) in the gene-based analysis. The gene also showed nominally significant association in the cohort-based ERF study (effect=1.75, P-value=0.05). Meta-analysis of discovery and replication improved the association signal (P-valuemeta=1.5 × 10-8). No genome-wide significant signal was observed in the single-variant analysis of either the binary ASD phenotype or the quantitative autistic trait. Our study has identified a novel gene TTC25 to be associated with quantitative autistic trait in patients with ASD. The replication of association in a cohort-based study and the effect estimate suggest that variants in TTC25 may also be relevant for broader ASD phenotype in the general population. TTC25 is overexpressed in frontal cortex and testis and is known to be involved in cilium movement and thus an interesting candidate gene for autistic trait.

  2. 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.

  3. Neuropeptide Y in Alcohol Addiction and Affective Disorders.

    Science.gov (United States)

    Thorsell, Annika; Mathé, Aleksander A

    2017-01-01

    Neuropeptide Y (NPY), a neuropeptide highly conserved throughout evolution, is present at high levels in the central nervous system (CNS), as well as in peripheral tissues such as the gut and cardiovascular system. The peptide exerts its effects via multiple receptor subtypes, all belonging to the G-protein-coupled receptor superfamily. Of these subtypes, the Y1 and the Y2 are the most thoroughly characterized, followed by the Y5 subtype. NPY and its receptors have been shown to be of importance in central regulation of events underlying, for example, affective disorders, drug/alcohol use disorders, and energy homeostasis. Furthermore, within the CNS, NPY also affects sleep regulation and circadian rhythm, memory function, tissue growth, and plasticity. The potential roles of NPY in the etiology and pathophysiology of mood and anxiety disorders, as well as alcohol use disorders, have been extensively studied. This focus was prompted by early indications for an involvement of NPY in acute responses to stress, and, later, also data pointing to a role in alterations within the CNS during chronic, or repeated, exposure to adverse events. These functions of NPY, in addition to the peptide's regulation of disease states, suggest that modulation of the activity of the NPY system via receptor agonists/antagonists may be a putative treatment mechanism in affective disorders as well as alcohol use disorders. In this review, we present an overview of findings with regard to the NPY system in relation to anxiety and stress, acute as well as chronic; furthermore we discuss post-traumatic stress disorder and, in part depression. In addition, we summarize findings on alcohol use disorders and related behaviors. Finally, we briefly touch upon genetic as well as epigenetic mechanisms that may be of importance for NPY function and regulation. In conclusion, we suggest that modulation of NPY-ergic activity within the CNS, via ligands aimed at different receptor subtypes, may be

  4. Neuropeptide Y in Alcohol Addiction and Affective Disorders

    Directory of Open Access Journals (Sweden)

    Annika Thorsell

    2017-07-01

    Full Text Available Neuropeptide Y (NPY, a neuropeptide highly conserved throughout evolution, is present at high levels in the central nervous system (CNS, as well as in peripheral tissues such as the gut and cardiovascular system. The peptide exerts its effects via multiple receptor subtypes, all belonging to the G-protein-coupled receptor superfamily. Of these subtypes, the Y1 and the Y2 are the most thoroughly characterized, followed by the Y5 subtype. NPY and its receptors have been shown to be of importance in central regulation of events underlying, for example, affective disorders, drug/alcohol use disorders, and energy homeostasis. Furthermore, within the CNS, NPY also affects sleep regulation and circadian rhythm, memory function, tissue growth, and plasticity. The potential roles of NPY in the etiology and pathophysiology of mood and anxiety disorders, as well as alcohol use disorders, have been extensively studied. This focus was prompted by early indications for an involvement of NPY in acute responses to stress, and, later, also data pointing to a role in alterations within the CNS during chronic, or repeated, exposure to adverse events. These functions of NPY, in addition to the peptide’s regulation of disease states, suggest that modulation of the activity of the NPY system via receptor agonists/antagonists may be a putative treatment mechanism in affective disorders as well as alcohol use disorders. In this review, we present an overview of findings with regard to the NPY system in relation to anxiety and stress, acute as well as chronic; furthermore we discuss post-traumatic stress disorder and, in part depression. In addition, we summarize findings on alcohol use disorders and related behaviors. Finally, we briefly touch upon genetic as well as epigenetic mechanisms that may be of importance for NPY function and regulation. In conclusion, we suggest that modulation of NPY-ergic activity within the CNS, via ligands aimed at different receptor

  5. Neuromagnetic Indication of Dysfunctional Emotion Regulation in Affective Disorders

    Directory of Open Access Journals (Sweden)

    Christian Pietrek

    2012-01-01

    Full Text Available Dysfunctional emotion regulation is often reported in affective disorders, but it is unclear whether this dysfunction concerns initial processing of emotional input or regulation of resulting emotion. The present study addressed these aspects in 27 depressive and 15 borderline personality disorder patients and 28 healthy controls who were instructed to either passively view unpleasant and neutral pictures or downregulate emotional responses by reappraisal, while neuromagnetic brain activity was measured. All three groups showed more early response to unpleasant than to neutral pictures, whereas patients failed to show subsequent activity suppression under instructions to down-regulate. This deficient emotion regulation was evident primarily in those subjects reporting high childhood adversity. Results support intact emotional input processing but impaired emotion regulation in affective disorders and indicate a moderating influence of early life stress.

  6. Maternal Affective Disorder and Children's Representation of Their Families

    Science.gov (United States)

    Arteche, Adriane; Murray, Lynne

    2011-01-01

    Children's perceptions of family relationship are related to their later emotional and social adjustment. This is of particular relevance in the context of family stressors such as maternal affective disorder. This study investigated the effects of maternal postnatal depression and anxiety on children's family representations. In our sample of…

  7. Light Therapy for Seasonal Affective Disorder. The Effects of Timing

    NARCIS (Netherlands)

    MEESTERS, Y; JANSEN, JHC; BEERSMA, DGM; BOUHUYS, AL; VANDENHOOFDAKKER, RH

    Background. Sixty-eight patients with seasonal affective disorder participated in a 10 000-lux light treatment study in which two questions were addressed: do response rates differ when the light is applied at different times of the day and does short-term rank ordering of morning and evening light

  8. affective, schizophrenic and mood disorders in patients admitted at ...

    African Journals Online (AJOL)

    Findings from clinical, genetic, neuropsychological and neurophysiological studies have failed to highlight a clear demarcation between the two main psychotic syndromes i.e.. MD and SCZ12, while evidence from brain imaging,. The relationship between schizo- affective, schizophrenic and mood disorders in patients ...

  9. Symptom dimensions of affective disorders in migraine patients

    NARCIS (Netherlands)

    Louter, M. A.; Pijpers, J. A.; Wardenaar, K. J.; van Zwet, E. W.; van Hemert, A. M.; Zitman, F. G.; Ferrari, M. D.; Penninx, B. W.; Tervvindt, G. M.

    2015-01-01

    Objective: A strong association has been established between migraine and depression. However, this is the first study to differentiate in a large sample of migraine patients for symptom dimensions of the affective disorder spectrum. Methods: Migraine patients (n = 3174) from the LUMINA (Leiden

  10. affective, schizophrenic and mood disorders in patients admitted at ...

    African Journals Online (AJOL)

    SCZ, SAD and MD regarding: affective and core symptoms of schizophrenia (with the exception of core symptoms of schizophrenia between SCZ and SAD); presence of past trauma; a past suicide attempt; and comorbidity with alcohol and drug abuse disorders. SAD and MD patients took significantly more mood stabilizers ...

  11. Seasonal affective disorder, winter type : current insights and treatment options

    NARCIS (Netherlands)

    Meesters, Ybe; Gordijn, Margaretha

    2016-01-01

    Seasonal affective disorder (SAD), winter type, is a seasonal pattern of recurrent major depressive episodes most commonly occurring in autumn or winter and remitting in spring/summer. The syndrome has been well-known for more than three decades, with light treatment being the treatment of first

  12. Symptom dimensions of affective disorders in migraine patients

    NARCIS (Netherlands)

    Louter, M.A.; Pijpers, J.A.; Wardenaar, K.J.; van Zwet, E.W.; van Hemert, A.M.; Zitman, F. G.; Ferrari, M.D.; Penninx, B.W.; Terwindt, G.M.

    2015-01-01

    Objective: A strong association has been established between migraine and depression. However, this is the first study to differentiate in a large sample of migraine patients for symptom dimensions of the affective disorder spectrum. Methods: Migraine patients (n. =. 3174) from the LUMINA (Leiden

  13. Electronic monitoring of patients with bipolar affective disorder

    DEFF Research Database (Denmark)

    Jacoby, Anne Sophie; Faurholt-Jepsen, Maria; Vinberg, Maj

    2012-01-01

    Bipolar disorder is a great challenge to patients, relatives and clinicians, and there is a need for development of new methods to identify prodromal symptoms of affective episodes in order to provide efficient preventive medical and behavioural intervention. Clinical trials prove that electronic...

  14. Cognitive function in unaffected twins discordant for affective disorder

    DEFF Research Database (Denmark)

    Christensen, Maj Vinberg; Kyvik, Kirsten Ohm; Kessing, Lars Vedel

    2006-01-01

    is associated with cognitive impairment. METHOD: In a cross-sectional high-risk case-control study, healthy monozygotic (MZ) and dizygotic (DZ) twins with (High-Risk twins) and without (the control group/Low-Risk twins) a co-twin history of affective disorder were identified through nationwide registers...

  15. International telemedicine consultations for neurodevelopmental disabilities.

    Science.gov (United States)

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

    2014-06-01

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

  16. Melanopsin, photosensitive ganglion cells, and seasonal affective disorder.

    Science.gov (United States)

    Roecklein, Kathryn A; Wong, Patricia M; Miller, Megan A; Donofry, Shannon D; Kamarck, Marissa L; Brainard, George C

    2013-03-01

    In two recent reports, melanopsin gene variations were associated with seasonal affective disorder (SAD), and in changes in the timing of sleep and activity in healthy individuals. New studies have deepened our understanding of the retinohypothalamic tract, which translates environmental light received by the retina into neural signals sent to a set of nonvisual nuclei in the brain that are responsible for functions other than sight including circadian, neuroendocrine and neurobehavioral regulation. Because this pathway mediates seasonal changes in physiology, behavior, and mood, individual variations in the pathway may explain why approximately 1-2% of the North American population develops mood disorders with a seasonal pattern (i.e., Major Depressive and Bipolar Disorders with a seasonal pattern, also known as seasonal affective disorder/SAD). Components of depression including mood changes, sleep patterns, appetite, and cognitive performance can be affected by the biological and behavioral responses to light. Specifically, variations in the gene sequence for the retinal photopigment, melanopsin, may be responsible for significant increased risk for mood disorders with a seasonal pattern, and may do so by leading to changes in activity and sleep timing in winter. The retinal sensitivity of SAD is hypothesized to be decreased compared to controls, and that further decrements in winter light levels may combine to trigger depression in winter. Here we outline steps for new research to address the possible role of melanopsin in seasonal affective disorder including chromatic pupillometry designed to measure the sensitivity of melanopsin containing retinal ganglion cells. Copyright © 2013 Elsevier Ltd. All rights reserved.

  17. Age- and sex-dependent laterality of rat hippocampal cholinergic system in relation to animal models of neurodevelopmental and neurodegenerative disorders.

    Science.gov (United States)

    Kristofiková, Zdena; Stástný, Frantisek; Bubeniková, Vera; Druga, Rastislav; Klaschka, Jan; Spaniel, Filip

    2004-04-01

    Studies suggest age- and sex-dependent structural and functional patterns of human cerebral lateralization underlie hemisphere specialization and its alterations in schizophrenia. Recent works report sexual dimorphism of neurons in the hippocampal formation and specialization of hemispheres in rats. Our experiments indicate for the first time functional lateralization of the high-affinity choline uptake (HACU) system directly associated with a synthesis of acetylcholine in the hippocampus of Wistar rats. The markedly increased HACU activity was found in the left compared to the right hippocampus of adult male but not female animals. Lineweaver-Burk plot analysis revealed a statistically significant increase of Vmax in the left hippocampus of 14-day-old when compared to 7-day-old males. It appears that laterality of HACU occurs during late postnatal maturation, and its degree is markedly enhanced after puberty and attenuated during aging. Quinolinic acid (QUIN), an endogenous agonist of N-methyl-D-aspartate type glutamate receptors, was used in this study to evaluate the neurodevelopmental hypothesis of schizophrenia. It is known that elevated levels of QUIN accompany viral infections, increasing the risk of developing schizophrenia. Bilateral intracerebroventricular application of QUIN (250 nmoles/ventricle) to pups aged 12 days significantly impaired the cholinergic hippocampal system of adolescent male and female rats and reversed lateralization of male HACU. Morphological analysis indicated marked changes in brain lesion sizes (extensive 24 h and moderate 38 days after the operation). Asymmetry of lesions was observed in the majority of cases, but the left hemisphere was not generally more vulnerable to QUIN effects than the right side. Moreover, no lateral differences were found between lesioned hippocampi in the specific binding of [3H]hemicholinium-3 (10%-15% loss of binding sites when compared to sham-operated animals). In summary, our results indicate a

  18. Daily Interpersonal and Affective Dynamics in Personality Disorder

    Science.gov (United States)

    Wright, Aidan G.C.; Hopwood, Christopher J.; Simms, Leonard J.

    2015-01-01

    In this naturalistic study we adopt the lens of interpersonal theory to examine between-and within-person differences in dynamic processes of daily affect and interpersonal behaviors among individuals (N = 101) previously diagnosed with personality disorders who completed daily diaries over the course of 100 days. Dispositional ratings of interpersonal problems and measures of daily stress were used as predictors of daily shifts in interpersonal behavior and affect in multilevel models. Results indicate that ~40%–50% of the variance in interpersonal behavior and affect is due to daily fluctuations, which are modestly related to dispositional measures of interpersonal problems but strongly related to daily stress. The findings support conceptions of personality disorders as a dynamic form of psychopathology involving the individuals interacting with and regulating in response to the contextual features of their environment. PMID:26200849

  19. Understanding the Comorbidity between Dyslexia and Attention-Deficit/Hyperactivity Disorder

    Science.gov (United States)

    Boada, Richard; Willcutt, Erik G.; Pennington, Bruce F.

    2012-01-01

    Dyslexia and attention-deficit/hyperactivity disorder (ADHD) are 2 of the most prevalent complex neurodevelopmental disorders of childhood, each affecting approximately 5% of the population in the United States. These disorders are also each comorbid with speech sound disorder and language impairment. Understanding the nature of the comorbidity…

  20. Autistic disorder : Current psychopharmacological treatments and areas of interest for future developments

    NARCIS (Netherlands)

    Nikolov, R; Jonker, Jacob Jan; Scahill, L

    Autistic disorder and the group of related conditions defined as pervasive developmental disorders are chronic neurodevelopmental disorders starting in early childhood and affecting a significant number of children and families. Although the causes and much of the pathophysiology of the disorder

  1. Attitudes towards "disorders of sex development" nomenclature among affected individuals.

    Science.gov (United States)

    Johnson, Emilie K; Rosoklija, Ilina; Finlayson, Courtney; Chen, Diane; Yerkes, Elizabeth B; Madonna, Mary Beth; Holl, Jane L; Baratz, Arlene B; Davis, Georgiann; Cheng, Earl Y

    2017-05-08

    Although now commonly used in medicine, the updated "disorders of sex development" (DSD) nomenclature formally introduced in 2006 has never been universally accepted by members of the affected community, particularly advocacy groups. Use of this nomenclature by medical professionals may unintentionally negatively affect access to healthcare and research for individuals with DSD conditions. Among individuals affected by various DSD diagnoses, this study sought to (1) evaluate attitudes towards potentially controversial DSD terminology, (2) determine potential impact of terminology on how affected individuals access healthcare, and (3) explore alternate terms. A web-based survey was developed in collaboration with the AIS-DSDSG (Androgen Insensitivity Syndrome-DSD Support Group) leadership. AIS-DSDSG members (caregivers and affected individuals) were surveyed about attitudes towards DSD, potential impact on healthcare utilization, and alternate terms. A qualitative analysis of reasons for using/avoiding specific terms was performed. Surveys were completed by 202 out of 580 (35%) AIS-DSDSG members (61% affected, 39% caregivers; 16% non-gender binary; age range of affected individuals 0-86 years). Only 24% use disorder of sex development to describe themselves/their child. A majority (69%) had a negative emotional experience because of clinical use of nomenclature; 81% changed their care because of it. Preferred and non-preferred terms for clinical care and research are illustrated in the figure. Preferred diagnostic terms were intersex, variation in sex development, and difference of sex development (55%, 52%, and 50% liked/strongly liked, respectively). Disorder of sex development was not preferred (17% liked/strongly liked). About one-third reported that they would not attend a clinic named the Disorder of Sex Development Clinic. Overall, 81% provided qualitative comments; flexible terminology use was a key theme. These study findings are consistent with previous

  2. Increased mortality among patients admitted with major psychiatric disorders: a register-based study comparing mortality in unipolar depressive disorder, bipolar affective disorder, schizoaffective disorder, and schizophrenia

    DEFF Research Database (Denmark)

    Laursen, Thomas Munk; Munk-Olsen, Trine; Nordentoft, Merete

    2007-01-01

    disorder has never been examined in a population-based study. OBJECTIVE: Our objective was to examine and compare mortality rates after admission with schizophrenia, schizoaffective disorder, unipolar depressive disorder, or bipolar affective disorder and to examine the impact of family history......: Unipolar depressive disorder, bipolar affective disorder, and schizoaffective disorder were associated with the same pattern of excess mortality. Schizophrenia had a lower mortality from unnatural causes of death and a higher mortality from natural causes compared to the 3 other disorders. Family history......CONTEXT: Persons suffering from severe mental disorder have an excess mortality compared to persons with no mental disorder. However, the magnitude of the excess mortality differs from one mental disorder to another, and the impact on mortality if a first-degree family member suffers from a mental...

  3. Underlying personality differences between alcohol/substance-use disorder patients with and without an affective disorder.

    Science.gov (United States)

    Janowsky, D S; Hong, L; Morter, S; Howe, L

    1999-01-01

    The Myers-Briggs Type Indicator (MBTI), a popular personality test, was used to profile the personalities of in-patient alcoholics/substance-use disorder patients who had, and those who did not have, a concurrent affective disorder diagnosis. The MBTI divides individuals into eight categories: Extroverts and Introverts, Sensors and Intuitives, Thinkers and Feelers, and Judgers and Perceivers. Alcohol/substance-use disorder patients with no affective disorder differed from a normative population only in being significantly more often Sensing and significantly less often Intuitive single-factor types. The Extroverted/Sensing/ Feeling/Judging four-factor type was also significantly over-represented in this group, compared to a normative population. In contrast, mood-disordered alcohol/substance-use disorder patients were significantly more often Introverted, Sensing, Feeling, and Perceiving and significantly less often Extroverted, Intuitive, Thinking, and Judging single-factor types. They were also significantly more often Introverted/Sensing/ Feeling/Perceiving and Introverted/Intuitive/Feeling/Perceiving four-factor types. 'Pure' alcohol/ substance-use disorder patients differed from alcohol/substance-use disorder patients with a mood disorder in that they were significantly more often Extroverted and Thinking and significantly less often Introverted and Feeling single-factor types; and significantly less often were an Introverted/Sensing/ Feeling/Perceiving four-factor type. The above results may have psychogenetic, diagnostic, and psychotherapeutic implications.

  4. Assessing affective variability in eating disorders: affect spins less in anorexia nervosa of the restrictive type.

    Science.gov (United States)

    Vansteelandt, Kristof; Probst, Michel; Pieters, Guido

    2013-08-01

    Differences in affective variability in eating disorders are examined using an ecological momentary assessment (EMA) protocol. It is hypothesized that restriction serves to pre-empt the activation of affect whereas bulimic behavior serves to cope with overwhelming affect once activated. Therefore, we expect anorexia nervosa (AN) patients of the restricting type (AN-RT) to have lower mean levels of affect and less affective variability than Bulimia Nervosa (BN) patients. Patients' successive affective states over time are represented as different positions in a two-dimensional space defined by the orthogonal dimensions of valence and activation. Affective variability is measured by the within person variance and the new concepts of pulse and spin. Results of this exploratory study suggest that the diagnostic groups have the same mean levels of affect but affect spins less in patients with AN-RT. Using an EMA protocol and measures like pulse and spin may reveal insights in eating disorders that remain hidden with more traditional assessment methods. Copyright © 2013 Elsevier Ltd. All rights reserved.

  5. Daily weather variables and affective disorder admissions to psychiatric hospitals

    Science.gov (United States)

    McWilliams, Stephen; Kinsella, Anthony; O'Callaghan, Eadbhard

    2014-12-01

    Numerous studies have reported that admission rates in patients with affective disorders are subject to seasonal variation. Notwithstanding, there has been limited evaluation of the degree to which changeable daily meteorological patterns influence affective disorder admission rates. A handful of small studies have alluded to a potential link between psychiatric admission rates and meteorological variables such as environmental temperature (heat waves in particular), wind direction and sunshine. We used the Kruskal-Wallis test, ARIMA and time-series regression analyses to examine whether daily meteorological variables—namely wind speed and direction, barometric pressure, rainfall, hours of sunshine, sunlight radiation and temperature—influence admission rates for mania and depression across 12 regions in Ireland over a 31-year period. Although we found some very weak but interesting trends for barometric pressure in relation to mania admissions, daily meteorological patterns did not appear to affect hospital admissions overall for mania or depression. Our results do not support the small number of papers to date that suggest a link between daily meteorological variables and affective disorder admissions. Further study is needed.

  6. Stochastic Signatures of Involuntary Head Micro-movements Can Be Used to Classify Females of ABIDE into Different Subtypes of Neurodevelopmental Disorders

    Directory of Open Access Journals (Sweden)

    Elizabeth B. Torres

    2017-06-01

    Full Text Available Background: The approximate 5:1 male to female ratio in clinical detection of Autism Spectrum Disorder (ASD prevents research from characterizing the female phenotype. Current open access repositories [such as those in the Autism Brain Imaging Data Exchange (ABIDE I-II] contain large numbers of females to help begin providing a new characterization of females on the autistic spectrum. Here we introduce new methods to integrate data in a scale-free manner from continuous biophysical rhythms of the nervous systems and discrete (ordinal observational scores.Methods: New data-types derived from image-based involuntary head motions and personalized statistical platform were combined with a data-driven approach to unveil sub-groups within the female cohort. Further, to help refine the clinical DSM-based ASD vs. Asperger's Syndrome (AS criteria, distributional analyses of ordinal score data from Autism Diagnostic Observation Schedule (ADOS-based criteria were used on both the female and male phenotypes.Results: Separate clusters were automatically uncovered in the female cohort corresponding to differential levels of severity. Specifically, the AS-subgroup emerged as the most severely affected with an excess level of noise and randomness in the involuntary head micro-movements. Extending the methods to characterize males of ABIDE revealed ASD-males to be more affected than AS-males. A thorough study of ADOS-2 and ADOS-G scores provided confounding results regarding the ASD vs. AS male comparison, whereby the ADOS-2 rendered the AS-phenotype worse off than the ASD-phenotype, while ADOS-G flipped the results. Females with AS scored higher on severity than ASD-females in all ADOS test versions and their scores provided evidence for significantly higher severity than males. However, the statistical landscapes underlying female and male scores appeared disparate. As such, further interpretation of the ADOS data seems problematic, rather suggesting the

  7. Seasonal Affective Disorder: An Overview of Assessment and Treatment Approaches

    Directory of Open Access Journals (Sweden)

    Sherri Melrose

    2015-01-01

    Full Text Available Seasonal affective disorder or SAD is a recurrent major depressive disorder with a seasonal pattern usually beginning in fall and continuing into winter months. A subsyndromal type of SAD, or S-SAD, is commonly known as “winter blues.” Less often, SAD causes depression in the spring or early summer. Symptoms center on sad mood and low energy. Those most at risk are female, are younger, live far from the equator, and have family histories of depression, bipolar disorder, or SAD. Screening instruments include the Seasonal Pattern Assessment Questionnaire (SPAQ. Typical treatment includes antidepressant medications, light therapy, Vitamin D, and counselling. This paper provides an overview of SAD.

  8. Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.

    Science.gov (United States)

    Blackburn, Patrick R; Barnett, Sarah S; Zimmermann, Michael T; Cousin, Margot A; Kaiwar, Charu; Pinto E Vairo, Filippo; Niu, Zhiyv; Ferber, Matthew J; Urrutia, Raul A; Selcen, Duygu; Klee, Eric W; Pichurin, Pavel N

    2017-05-01

    Pathogenic variants in EBF3 were recently described in three back-to-back publications in association with a novel neurodevelopmental disorder characterized by intellectual disability, speech delay, ataxia, and facial dysmorphisms. In this report, we describe an additional patient carrying a de novo missense variant in EBF3 (c.487C>T, p.(Arg163Trp)) that falls within a conserved residue in the zinc knuckle motif of the DNA binding domain. Without a solved structure of the DNA binding domain, we generated a homology-based atomic model and performed molecular dynamics simulations for EBF3, which predicted decreased DNA affinity for p.(Arg163Trp) compared with wild-type protein and control variants. These data are in agreement with previous experimental studies of EBF1 showing the paralogous residue is essential for DNA binding. The conservation and experimental evidence existing for EBF1 and in silico modeling and dynamics simulations to validate comparable behavior of multiple variants in EBF3 demonstrates strong support for the pathogenicity of p.(Arg163Trp). We show that our patient presents with phenotypes consistent with previously reported patients harboring EBF3 variants and expands the phenotypic spectrum of this newly identified disorder with the additional feature of a bicornuate uterus.

  9. A Comparative Study of Affective Bipolar Disorder with Schizoaffective Disorder from a Longitudinal Perspective

    Directory of Open Access Journals (Sweden)

    Miruna Milin

    2013-08-01

    Full Text Available Introduction: In the last years there is a great interest for the theory of the “psychotic continuum”, which accepts that there is a transition between schizophrenia and affective pathology, including bipolar disorder with psychotic interferences and the recently introduced diagnosis of schizoaffective disorder. There are few studies that analyze bipolar disorder with mood-incongruent psychosis. The purpose of this study was to observe the way in which the interference of mood-incongruent psychotic symptoms can influence the long term evolution of patients diagnosed with bipolar disorder and the similarities that exists between this type of pathology and schizoaffective disorder. Material and methods: Sixty subjects were selected, who are now diagnosed with schizoaffective disorder and bipolar disorder, with and without psychotic features. All cases have at least 15 years of evolution since the first episode of psychosis and were analyzed in term of their age of onset and longitudinal evolution. Results: The results showed that bipolar patients who had mood incongruent psychotic symptoms had an earlier age of onset and a higher rate of hospitalizations in their long term evolution compared to bipolar patients without psychotic features, which brings them closer to patients with schizoaffective disorder in term of their pattern of evolution. Conclusions: This study has demonstrated that the interference of mood-incongruent psychosis with bipolar disorder determines a worse prognosis of this disease, very similar with the evolution of patients with schizoaffective disorder

  10. Attention deficit hyperactivity disorder (ADHD): an affect-processing and thought disorder?

    Science.gov (United States)

    Günter, Michael

    2014-02-01

    In the literature on child and adolescent psychoanalysis attention deficit hyperactivity disorder (ADHD) is described as complex syndrome with wide-ranging psychodynamic features. Broadly speaking, the disorder is divided into three categories: 1. a disorder in early object relations leading to the development of a maniform defence organization in which object-loss anxieties and depressed affects are not worked through via symbolization but are organized in a body-near manner; 2. a triangulation disorder in which the cathexis of the paternal position is not stable; structures providing little support alternate with excessive arousal, affect regulation is restricted; 3. current emotional stress or a traumatic experience. I suggest taking a fresh look at ADHD from a psychoanalytic vantage point. With respect to the phenomenology of the disorder, the conflict-dynamic approach should be supplemented by a perspective regarding deficits in α-function as constitutive for ADHD. These deficits cause affect-processing and thought disorders compensated for (though not fully) by the symptomatology. At a secondary level, a vicious circle develops through the mutual reinforcement of defective processing of sense data and affects into potential thought content, on the one hand, and secondary, largely narcissistic defence processes on the other. These considerations have major relevance for the improved understanding of ADHD and for psychoanalytic technique. Copyright © 2013 Institute of Psychoanalysis.

  11. Atypical perception of affective prosody in Autism Spectrum Disorder.

    Science.gov (United States)

    Gebauer, Line; Skewes, Joshua; Hørlyck, Lone; Vuust, Peter

    2014-01-01

    Autism Spectrum Disorder (ASD) is characterized by impairments in language and social-emotional cognition. Yet, findings of emotion recognition from affective prosody in individuals with ASD are inconsistent. This study investigated emotion recognition and neural processing of affective prosody in high-functioning adults with ASD relative to neurotypical (NT) adults. Individuals with ASD showed mostly typical brain activation of the fronto-temporal and subcortical brain regions in response to affective prosody. Yet, the ASD group showed a trend towards increased activation of the right caudate during processing of affective prosody and rated the emotional intensity lower than NT individuals. This is likely associated with increased attentional task demands in this group, which might contribute to social-emotional impairments.

  12. Atypical perception of affective prosody in Autism Spectrum Disorder

    Directory of Open Access Journals (Sweden)

    Line Gebauer

    2014-01-01

    Full Text Available Autism Spectrum Disorder (ASD is characterized by impairments in language and social–emotional cognition. Yet, findings of emotion recognition from affective prosody in individuals with ASD are inconsistent. This study investigated emotion recognition and neural processing of affective prosody in high-functioning adults with ASD relative to neurotypical (NT adults. Individuals with ASD showed mostly typical brain activation of the fronto-temporal and subcortical brain regions in response to affective prosody. Yet, the ASD group showed a trend towards increased activation of the right caudate during processing of affective prosody and rated the emotional intensity lower than NT individuals. This is likely associated with increased attentional task demands in this group, which might contribute to social–emotional impairments.

  13. A Case of Bipolar Affective Disorder and Aspiration Pneumonia

    Directory of Open Access Journals (Sweden)

    Alessandro Gerada

    2013-01-01

    Full Text Available Adults with mental illness are at a higher risk of aspiration pneumonia than the general population. We describe the case of a patient with bipolar affective disorder and two separate episodes of aspiration pneumonia associated with acute mania. We propose that he had multiple predisposing factors, including hyperverbosity, sedative medications, polydipsia (psychogenic and secondary to a comorbidity of diabetes insipidus, and neuroleptic side effects.

  14. Prevalence and correlates of binge eating in seasonal affective disorder

    OpenAIRE

    Donofry, Shannon D.; Kathryn A. Roecklein; Rohan, Kelly J.; Wildes, Jennifer E.; Kamarck, Marissa L.

    2014-01-01

    Eating pathology in Seasonal Affective Disorder (SAD) may be more severe than hyperphagia during winter. Although research has documented elevated rates of subclinical binge eating in women with SAD, the prevalence and correlates of BED in SAD remain largely uncharacterized. We examined the prevalence and correlates of binge eating, weekly binge eating with distress, and BED as defined by the DSM-IV-TR in SAD. We also tested whether binge eating exhibits a seasonal pattern among individuals w...

  15. The neurobiology of retinoic acid in affective disorders.

    Science.gov (United States)

    Bremner, J Douglas; McCaffery, Peter

    2008-02-15

    Current models of affective disorders implicate alterations in norepinephrine, serotonin, dopamine, and CRF/cortisol; however treatments targeted at these neurotransmitters or hormones have led to imperfect resolution of symptoms, suggesting that the neurobiology of affective disorders is incompletely understood. Until now retinoids have not been considered as possible contributors to affective disorders. Retinoids represent a family of compounds derived from vitamin A that perform a large number of functions, many via the vitamin A product, retinoic acid. This signaling molecule binds to specific retinoic acid receptors in the brain which, like the glucocorticoid and thyroid hormone receptors, are part of the nuclear receptor superfamily and regulate gene transcription. Research in the field of retinoic acid in the CNS has focused on the developing brain, in part stimulated by the observation that isotretinoin (13-cis retinoic acid), an isomer of retinoic acid used in the treatment of acne, is highly teratogenic for the CNS. More recent work has suggested that retinoic acid may influence the adult brain; animal studies indicated that the administration of isotretinoin is associated with alterations in behavior as well as inhibition of neurogenesis in the hippocampus. Clinical evidence for an association between retinoids and depression includes case reports in the literature, studies of health care databases, and other sources. A preliminary PET study in human subjects showed that isotretinoin was associated with a decrease in orbitofrontal metabolism. Several studies have shown that the molecular components required for retinoic acid signaling are expressed in the adult brain; the overlap of brain areas implicated in retinoic acid function and stress and depression suggest that retinoids could play a role in affective disorders. This report reviews the evidence in this area and describes several systems that may be targets of retinoic acid and which contribute to

  16. Affective Cognition and its Disruption in Mood Disorders

    Science.gov (United States)

    Elliott, Rebecca; Zahn, Roland; Deakin, J F William; Anderson, Ian M

    2011-01-01

    In this review, we consider affective cognition, responses to emotional stimuli occurring in the context of cognitive evaluation. In particular, we discuss emotion categorization, biasing of memory and attention, as well as social/moral emotion. We discuss limited neuropsychological evidence suggesting that affective cognition depends critically on the amygdala, ventromedial frontal cortex, and the connections between them. We then consider neuroimaging studies of affective cognition in healthy volunteers, which have led to the development of more sophisticated neural models of these processes. Disturbances of affective cognition are a core and specific feature of mood disorders, and we discuss the evidence supporting this claim, both from behavioral and neuroimaging perspectives. Serotonin is considered to be a key neurotransmitter involved in depression, and there is a considerable body of research exploring whether serotonin may mediate disturbances of affective cognition. The final section presents an overview of this literature and considers implications for understanding the pathophysiology of mood disorder as well as developing and evaluating new treatment strategies. PMID:20571485

  17. Tryptophan hydroxylase 2 in seasonal affective disorder: underestimated perspectives?

    Science.gov (United States)

    Kulikov, Alexander V; Popova, Nina K

    2015-01-01

    Seasonal affective disorder (SAD) is characterized by recurrent depression occurring generally in fall/winter. Numerous pieces of evidence indicate the association of SAD with decreased brain neurotransmitter serotonin (5-HT) system functioning. Tryptophan hydroxylase 2 (TPH2) is the key and rate-limiting enzyme in 5-HT synthesis in the brain. This paper concentrates on the relationship between TPH2 activity and mood disturbances, the association between human TPH2 gene expression and the risk of affective disorder, application of tryptophan to SAD treatment and the animal models of SAD. The main conclusions of this review are as follows: (i) the brain 5-HT deficiency contributes to the mechanism underlying SAD, (ii) TPH2 is involved in the regulation of some kinds of genetically defined affective disorders and (iii) the activation of 5-HT synthesis with exogenous l-tryptophan alone or in combination with light therapy could be effective in SAD treatment. The synergic effect of these combined treatments will have several advantages compared to light or tryptophan therapy alone. First, it is effective in the treatment of patients resistant to light therapy. Secondly, l-tryptophan treatment prolongs the antidepressant effect of light therapy.

  18. Risk factors that influence suicidal behavior in affective disorders

    Directory of Open Access Journals (Sweden)

    Stanojević Albina

    2016-01-01

    Full Text Available It is known in the literature that the incidence and prevalence of suicide and attempted suicide in psychiatric patients is significantly higher than in the general population. The paper examined risk factors for suicidal behavior in the category of admitted patients hospitalized with the diagnosis of sleep disorders and affective (Unipolar resp. Bipolar depression. Study activated by 80 patients, 40 in both diagnostic groups received treatment at the Special Psychiatric Hospital in Gornja Toponica near Nis. The work methodology used are: psychiatric interview, Hamilton Depression Rating Scale (HAMD, and the C-SSRS (Columbia-Suicide Severity Rating Scale- assessment tool that assesses suicidal ideation and behavior. The study results show that there is a relationship between suicidal behavior (suicide attempts and suicidal ideation and the diagnosis of bipolar affective disorder, positive history of previous suicide attempts, so that these factors are stronger, to the degree of suicidality higher. On this sample, clearly suicidal behavior, with the same purpose, intensity of suicidal thoughts and medical impairment after suicide attempts were significantly more frequent in patients with Bipolar Affective Disorder in the depressive phase of the illness. Patients with a previous suicide attempt, and poor personal and social circumstances had a higher rate of attempted suicide.

  19. Affective temperaments: familiality and clinical use in mood disorders.

    Science.gov (United States)

    Aguiar Ferreira, Alexandre de; Vasconcelos, Alina Gomide; Neves, Fernando Silva; Laks, Jerson; Correa, Humberto

    2013-05-15

    The affective temperament profiles among patients with mood disorders may be an important parameter in the clinical evaluation of these patients. It has been proposed that temperament traits have familiality and may represent vulnerability markers to identify the risk to developing specific clinical type of mood disorders. To test these theories, measures of temperament were examined in bipolar patients (BP), unipolar major depressive patients (UP), healthy relatives of these patients (HRP) and normal controls (NC). We compared affective temperament scores, using the brief Brazilian version of TEMPS-A--TEMPS-Rio de Janeiro, between 90 BP, 88 UP, 132 HRP and 136 NC. A MANCOVA model was constructed. Dependent variables were the six subscales of the TEMPS-RJ (depressive, cyclothymic, irritable, hyperthymic, anxious and worrying temperaments). The effects of age and gender were adjusted as covariates. Furthermore, we performed a comparison between a subgroup of 68 HRP, relatives of bipolar patients (HRBP), and the remainders 64 HRP, relatives of unipolar patients (HRUP) and controls. The clinical group (BP, UP) showed higher temperament scores than NC, except for hyperthymic scores. BP showed higher cyclothymic (pBipolar I and II subjects were placed in the same group. The cyclothymic and hyperthymic traits were associated with bipolarity in patients and cyclothymic temperament could be a characteristic trait of the healthy relatives of bipolar patients. Our data support that affective temperament might become a useful tool for clinical evaluation and research purposes in mood disorders. Copyright © 2012 Elsevier B.V. All rights reserved.

  20. Smooth pursuit deficits in schizophrenia, affective disorder and obsessive-compulsive disorder.

    Science.gov (United States)

    Lencer, R; Trillenberg, P; Trillenberg-Krecker, K; Junghanns, K; Kordon, A; Broocks, A; Hohagen, F; Heide, W; Arolt, V

    2004-04-01

    In schizophrenia, affective disorders, and obsessive-compulsive disorder (OCD) dysfunction of frontal neuronal circuits has been suggested. Such impairments imply corresponding oculomotor deficits. Eye movement response to foveofugal and foveopetal step-ramp stimuli was recorded within the same study design in patients with schizophrenia (N= 16), affective disorder (N= 15), and OCD (N= 18) and compared with controls (N=23) using infra-red reflection oculography. In the foveofugal task steady-state velocity was lower in all patient groups compared with controls. Post-saccadic eye velocity was also decreased in patients with schizophrenia and affective disorder. In the foveopetal stimulus steady-state velocity was reduced in schizophrenic patients, only. Changes of saccadic latencies or position errors were not found in any of the patient groups. Also, pursuit latency was unchanged and initial eye acceleration was not decreased. Unaltered saccadic parameters indicate intact motion perception in cortical visual area V5. Therefore, the observed deficit of pursuit maintenance implies a dysfunction of frontal networks in all patient groups including the pursuit region of the frontal eye field (FEF). In patients with schizophrenia and affective disorder reduced post-saccadic pursuit initiation may indicate an impaired interaction between the pursuit and the saccadic system.

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

    Science.gov (United States)

    Stern, Francine Martin; Gorga, Delia

    1988-01-01

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

  2. Posttraumatic stress disorder symptom trajectories in Hurricane Katrina affected youth.

    Science.gov (United States)

    Self-Brown, Shannon; Lai, Betty S; Thompson, Julia E; McGill, Tia; Kelley, Mary Lou

    2013-05-01

    This study examined trajectories of posttraumatic stress disorder symptoms in Hurricane Katrina affected youth. A total of 426 youth (51% female; 8-16 years old; mean age=11 years; 75% minorities) completed assessments at 4 time points post-disaster. Measures included Hurricane impact variables (initial loss/disruption and perceived life threat); history of family and community violence exposure, parent and peer social support, and post-disaster posttraumatic stress symptoms. Latent class growth analysis demonstrated that there were three distinct trajectories of posttraumatic stress disorder symptoms identified for this sample of youth (resilient, recovering, and chronic, respectively). Youth trajectories were associated with Hurricane-related initial loss/disruption, community violence, and peer social support. The results suggest that youth exposed to Hurricane Katrina have variable posttraumatic stress disorder symptom trajectories. Significant risk and protective factors were identified. Specifically, youth Hurricane and community violence exposure increased risk for a more problematic posttraumatic stress disorder symptom trajectory, while peer social support served as a protective factor for these youth. Identification of these factors suggests directions for future research as well as potential target areas for screening and intervention with disaster exposed youth. The convenience sample limits the external validity of the findings to other disaster exposed youth, and the self-report data is susceptible to response bias. Copyright © 2012 Elsevier B.V. All rights reserved.

  3. Skipping breakfast adversely affects menstrual disorders in young college students.

    Science.gov (United States)

    Fujiwara, Tomoko; Sato, Natsuyo; Awaji, Hiroyo; Sakamoto, Hiroko; Nakata, Rieko

    2009-01-01

    In the present study we conducted a questionnaire survey to examine the relationship between dietary habits and menstrual disorders in young women. Subjects were recruited from 315 college students and were classified as: Group I, eating breakfast; Group II, skipping breakfast; Group III, not eating fast foods; Group IV, eating fast foods; Group V, not eating processed foods; and Group VI, eating processed foods. The intensity of dysmenorrhea was scored using three grades. All participants were further divided into groups based on having regular or irregular menstruation, having premenstrual symptoms or not, and self-perception of good or poor general health. General health was poor in Groups II and VI, and dysmenorrhea scores were high in Groups II, IV and VI. The incidence of irregular menses was also high in Group II. However, there was no apparent relation between premenstrual symptoms and dietary habits. These findings suggest that skipping breakfast adversely affects menstrual disorders in young college students.

  4. The chronobiology and neurobiology of winter seasonal affective disorder

    Science.gov (United States)

    Levitan, Robert D.

    2007-01-01

    This review summarizes research on the chronobiology and neurobiology of winter seasonal affective disorder (SAD), a recurrent subtype of depression characterized by a predictable onset in the fall/winter months and spontaneous remission in the spring/summer period. Chronobiological mechanisms related to circadian rhythms, melatonin, and photoperiodism play a significant role in many cases of SAD, and treatment of SAD can be optimized by considering individual differences in key chronobiological markers. Converging evidence also points to a role for the major monoamine neurotransmitters serotonin, norepinephrine, and dopamine in one or more aspects of SAD. Ultimately, as with other psychiatric illnesses, SAD is best considered as a complex disorder resulting from the interaction of several vulnerability factors acting at different levels, the various genetic mechanisms that underlie them, and the physical environment. Models of SAD that emphasize its potential role in human evolution will also be discussed. PMID:17969868

  5. Amygdala response to emotional faces in seasonal affective disorder

    DEFF Research Database (Denmark)

    Borgsted, Camilla; Ozenne, Brice; Mc Mahon, Brenda

    2018-01-01

    BACKGROUND: Seasonal affective disorder (SAD) is characterized by seasonally recurring depression. Heightened amygdala activation to aversive stimuli is associated with major depressive disorder but its relation to SAD is unclear. We evaluated seasonal variation in amygdala activation in SAD...... and healthy controls (HC) using a longitudinal design targeting the asymptomatic/symptomatic phases of SAD. We hypothesized increased amygdala activation to aversive stimuli in the winter in SAD individuals (season-by-group interaction). METHODS: Seventeen SAD individuals and 15 HCs completed an implicit...... emotional faces BOLD-fMRI paradigm during summer and winter. We computed amygdala activation (SPM5) to an aversive contrast (angry & fearful minus neutral) and angry, fearful and neutral faces, separately. Season-by-group and main effects were evaluated using Generalized Least Squares. In SAD individuals...

  6. Cognitions in bipolar affective disorder and unipolar depression: imagining suicide.

    Science.gov (United States)

    Hales, Susie A; Deeprose, Catherine; Goodwin, Guy M; Holmes, Emily A

    2011-01-01

    Bipolar disorder has the highest rate of suicide of all the psychiatric disorders. In unipolar depression, individuals report vivid, affect-laden images of suicide or the aftermath of death (flashforwards to suicide) during suicidal ideation but this phenomenon has not been explored in bipolar disorder. Therefore the authors investigated and compared imagery and verbal thoughts related to past suicidality in individuals with bipolar disorder (n = 20) and unipolar depression (n = 20). The study used a quasi-experimental comparative design. The Structured Clinical Interview for DSM-IV was used to confirm diagnoses. Quantitative and qualitative data were gathered through questionnaire measures (e.g., mood and trait imagery use). Individual interviews assessed suicidal cognitions in the form of (i) mental images and (ii) verbal thoughts. All participants reported imagining flashforwards to suicide. Both groups reported greater preoccupation with these suicide-related images than with verbal thoughts about suicide. However, compared to the unipolar group, the bipolar group were significantly more preoccupied with flashforward imagery, rated this imagery as more compelling, and were more than twice as likely to report that the images made them want to take action to complete suicide. In addition, the bipolar group reported a greater trait propensity to use mental imagery in general. Suicidal ideation needs to be better characterized, and mental imagery of suicide has been a neglected but potentially critical feature of suicidal ideation, particularly in bipolar disorder. Our findings suggest that flashforward imagery warrants further investigation for formal universal clinical assessment procedures. © 2011 John Wiley and Sons A/S.

  7. Neurodevelopmental processes and psychological functioning in autism.

    Science.gov (United States)

    Gillberg, C

    1999-01-01

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

  8. Seasonal affective disorder, winter type: current insights and treatment options.

    Science.gov (United States)

    Meesters, Ybe; Gordijn, Marijke Cm

    2016-01-01

    Seasonal affective disorder (SAD), winter type, is a seasonal pattern of recurrent major depressive episodes most commonly occurring in autumn or winter and remitting in spring/summer. The syndrome has been well-known for more than three decades, with light treatment being the treatment of first choice. In this paper, an overview is presented of the present insights in SAD. Description of the syndrome, etiology, and treatment options are mentioned. Apart from light treatment, medication and psychotherapy are other treatment options. The predictable, repetitive nature of the syndrome makes it possible to discuss preventive treatment options. Furthermore, critical views on the concept of SAD as a distinct diagnosis are discussed.

  9. Post-traumatic stress disorder symptoms, underlying affective vulnerabilities, and smoking for affect regulation.

    Science.gov (United States)

    Mathew, Amanda R; Cook, Jessica W; Japuntich, Sandra J; Leventhal, Adam M

    2015-01-01

    Post-traumatic stress disorder (PTSD) is overrepresented among cigarette smokers. It has been hypothesized that those with PTSD smoke to alleviate negative affect and counteract deficient positive affect commonly associated with the disorder; however, limited research has examined associations between PTSD symptoms, smoking motives, and affective vulnerability factors. In the current study, we examined (1) whether PTSD symptoms were associated with positive reinforcement and negative reinforcement smoking motives; and (2) whether two affective vulnerability factors implicated in PTSD-anxiety sensitivity and anhedonia-mediated relationships between PTSD symptoms and smoking motives. Data were drawn from a community sample of non-treatment-seeking smokers recruited without regard for trauma history (N = 342; 10+ cig/day). We used the Posttraumatic Stress Disorder Checklist-Civilian Version (PCL-C) to assess overall PTSD symptom severity as well as individual PTSD subfactors. Overall, PTSD symptom severity was significantly associated with negative reinforcement, but not positive reinforcement, smoking motives. Variation in anxiety sensitivity significantly mediated the relation between PTSD symptom severity and negative reinforcement smoking motives, whereas anhedonia did not. Regarding PTSD subfactors, emotional numbing was the only PTSD subfactor associated with smoking rate, while re-experiencing symptoms were uniquely associated with both positive reinforcement and negative reinforcement smoking motives. Findings suggest that anxiety sensitivity may be an important feature associated with PTSD that enhances motivation to smoke for negative reinforcement purposes. Smoking cessation interventions that alleviate anxiety sensitivity and enhance coping with negative affect may be useful for smokers with elevated PTSD symptoms. © American Academy of Addiction Psychiatry.

  10. Affective temperaments and neurocognitive functioning in bipolar disorder.

    Science.gov (United States)

    Russo, Manuela; Mahon, Katie; Shanahan, Megan; Ramjas, Elizabeth; Solon, Carly; Braga, Raphael J; Burdick, Katherine E

    2014-12-01

    There is evidence that patients with bipolar disorder (BD) score higher on affective temperament ratings compared to healthy controls (HCs). Moreover, unaffected relatives demonstrate similar patterns as BD patients suggesting that such temperaments are related to the genetic risk for BD and may serve as endophenotypes for the disorder. It is unknown whether affective temperaments are associated with other core features of BD, such as impairments in neurocognition. This study examined the relationship between affective temperaments and neurocognition in patients with BD and in HCs. Temperaments were evaluated using the Temperament Evaluation of Memphis, Pisa, Paris, and San Diego, Auto-questionnaire version (TEMPS-A) in 64 patients with BD and 109 HCs. Neurocognitive functioning was evaluated using the MATRICS Consensus Cognitive Battery (MCCB). Correlational analyses between temperaments and cognition were conducted in BD and HC subjects. Data suggest that affective temperaments and neurocognition are correlated. In BD higher ratings of cyclothymia and irritability were associated with better processing speed, working memory, reasoning and problem-solving. In the HC group, increased irritability was related to worse performance on measures of attention and social cognition. Lack of functional outcome measures to evaluate the impact of temperaments and cognition on psychosocial functioning. It would be useful to test these findings on unaffected relatives of BD patients. Cyclothymic and irritable temperaments are correlated with specific aspects of neurocognition in BD. This study is among the few exploring the dimensional relationship between temperaments and cognition in BD, and provides preliminary evidence for future studies investigating the neural and genetic mechanisms underlying the association between these variables. Copyright © 2014 Elsevier B.V. All rights reserved.

  11. [Diagnostic features, epidemiology, and pathophysiology of seasonal affective disorder].

    Science.gov (United States)

    Molnár, Eszter; Gonda, Xénia; Rihmer, Zoltán; Bagdy, György

    2010-01-01

    Seasonal Affective Disorder (SAD) is characterized by patterns of major depressive episodes that occur and remit with the change of seasons. Two seasonal patterns have been identified: summer-type depression with typical depressive signs and symptoms, and winter-type depression with atypical features of depression. In the subsyndromal form of SAD (S-SAD) symptoms are milder, although vegetative symptoms are clinically significant. SAD needs to be differentiated from atypical depression, cyclothymic disorder, and dysthymia or chronic MDD which may be characterized by a winter worsening of symptoms. Full remission of symptoms must occur after the passing of the season for the disorder to merit the diagnosis of SAD. The mean prevalence of SAD in the temperate zone is 3 to 10%, while that of S-SAD is 6 to 20%. In Hungarian general population the occurrence of SAD is 4.6%, and S-SAD is 7.2%. The pathophysiology of SAD seems to be heterogeneous, studies suggest abnormal circadian rhythm and neurotransmitter function (phase shift hypothesis, role of serotonin, dopamin and norepinephrine). Genetic studies focusing on candidate genes involve 5-HTR2A, 5-HTR2C, DRD4, G protein, and clock-related genes.

  12. Dysfunctional affect regulation in borderline personality disorder and in somatoform disorder

    Directory of Open Access Journals (Sweden)

    Annemiek van Dijke

    2012-09-01

    Full Text Available Background: Although affect dysregulation is considered a core component of borderline personality disorder (BPD and somatoform disorders (SoD, remarkably little research has focused on the prevalence and nature of affect dysregulation in these disorders. Also, despite apparent similarities, little is known about how dysfunctional under- and overregulation of affect and positive and negative somatoform and psychoform dissociative experiences inter-relate. Prior studies suggest a clear relationship between early childhood psychological trauma and affect dysregulation, especially when the caretaker is emotionally, sexually, or physically abusing the child, but how these relate to under- and overregulation while differentiating for developmental epochs is not clear. Although an elevated risk of childhood trauma exposure or complex posttraumatic stress disorder (CPTSD symptoms has been reported in BPD and SoD, trauma histories, dysfunctional affect regulation, dissociation, PTSD, and CPTSD were never assessed in unison in BPD and/or SoD. Method: BPD and/or SoD diagnoses were confirmed or ruled out in 472 psychiatric inpatients using clinical interviews. Dysfunctional under- and overregulation of affect and somatoform and psychoform dissociation, childhood trauma-by-primary-caretaker (TPC, PTSD, and CPTSD were all measured using self reports. Results: No disorder-specific form of dysfunctional affect regulation was found. Although both BPD and SoD can involve affect dysregulation and dissociation, there is a wide range of intensity of dysfunctional regulation phenomena in patients with these diagnoses. Evidence was found for the existence of three qualitatively different forms of experiencing states: inhibitory experiencing states (overregulation of affect and negative psychoform dissociation most commonly found in SoD, excitatory experiencing states (underregulation of affect and positive psychoform dissociation most commonly found in BPD, and

  13. Seasonal affective disorder, winter type: current insights and treatment options

    Directory of Open Access Journals (Sweden)

    Meesters Y

    2016-11-01

    Full Text Available Ybe Meesters,1 Marijke CM Gordijn,2,3 1University Center for Psychiatry, University Medical Center Groningen, 2Department of Chronobiology, GeLifes, University of Groningen, Groningen, the Netherlands; 3Chrono@Work B.V., Groningen, the Netherlands Abstract: Seasonal affective disorder (SAD, winter type, is a seasonal pattern of recurrent major depressive episodes most commonly occurring in autumn or winter and remitting in spring/summer. The syndrome has been well-known for more than three decades, with light treatment being the treatment of first choice. In this paper, an overview is presented of the present insights in SAD. Description of the syndrome, etiology, and treatment options are mentioned. Apart from light treatment, medication and psychotherapy are other treatment options. The predictable, repetitive nature of the syndrome makes it possible to discuss preventive treatment options. Furthermore, critical views on the concept of SAD as a distinct diagnosis are discussed. Keywords: seasonal affective disorder, review, light treatment, medication, psychotherapy, prevention

  14. Theory of mind deficits in bipolar affective disorder.

    Science.gov (United States)

    Kerr, Natalie; Dunbar, Robin I M; Bentall, Richard P

    2003-02-01

    Bipolar affective disorder patients often show cognitive deficits that are similar to those found in schizophrenia patients. Theory of mind (the ability to understand others' mental states) is compromised in currently ill schizophrenia patients. This study aimed to establish whether similar deficits are found in bipolar patients. We measured theory of mind ability in 20 bipolar-manic patients, 15 bipolar-depressed patients, 13 bipolar patients in remission and 15 normal controls. The task, which controlled for memory and comprehension, had previously been used in a study of schizophrenia patients. Impaired performance on theory of mind was found for both bipolar-depressed and bipolar-manic patients, even when memory was controlled for. No impairment was observed in the remitted patients. The manic patients scored lower than the remitted patients on a brief measure of intelligence; no other group differences in IQ were significant. Theory of mind deficits are found in currently symptomatic bipolar patients. These findings add to growing evidence that common mechanisms may contribute to bipolar affective disorder and schizophrenia.

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

    Directory of Open Access Journals (Sweden)

    Paula A Garay

    2010-09-01

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

  16. Schizophrenia and Bipolar Affective Disorder: a Dimensional Approach.

    Science.gov (United States)

    Aykut, Demet Sağlam; Arslan, Filiz Civil; Özkorumak, Evrim; Tiryaki, Ahmet

    2017-06-01

    Schizophrenia (SCH) and bipolar affective disorder (BAD) are currently classified separately according to the DSM (The Diagnostic and Statistical Manual of Mental Disorders) and ICD (International Statistical Classification of Diseases and Related Health Problems) standardized diagnostic guidelines. However, the validity of this categorical approach is controversial because psychotic symptoms may be observed in both diagnoses. The purpose of this study was to compare the clinical and social characteristics in a sample group consisting of patients diagnosed with SCH or BAD to help demonstrate the basic difficulty in the current classification of SCH and BAD as two etiologically distinct diseases. The study sample group consisted of 102 patients diagnosed with SCH and 92 patients diagnosed with BAD. All of the participants were evaluated by Structured Clinical Interview for Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition with regard to beginning symptoms of the disease, the symptoms and signs of active disease period within total disease duration, continuining residual symptoms in intermediate period. The patients were administered the Positive and Negative Syndrome Scale, the Quality of Life Enjoyment and Satisfaction Questionnaire and the Social Functioning Scale. The SCH and BAD groups in this study were statistically similar in terms of sex, length of education, age at disease onset, attempted suicide, quality of life and social functioning. Our study findings indicated that the course of disease in patients with BAD-1, in which psychotic features predominate and which exhibits a recurring course, shares various characteristics with SCH. It can be concluded that further phenomenological and neurobiological evaluations are required for intermediate cases with similiar clinical characteristics with schizophrenia and bipolar disorders.

  17. Reactivity of affect and self-esteem during remission in bipolar affective disorder: an experimental investigation.

    Science.gov (United States)

    Pavlova, Barbara; Uher, Rudolf; Dennington, Louis; Wright, Kim; Donaldson, Catherine

    2011-11-01

    Bipolar affective disorder (BPAD) is characterised by a lifelong vulnerability to develop episodes of depressed or elevated mood in response to stressful life events involving achievement or failure. We hypothesised that this latent vulnerability can manifest as reactivity of affect and self-esteem to experimentally induced experiences of success and failure and is shaped by history of childhood adversity. Twenty-four people with remitted BPAD and twenty-four healthy controls underwent anagram-solving tasks designed to generate experiences of success and failure in two separate sessions. Positive and negative affect and implicit and explicit self-esteem were measured before and after each task. Early adversity was measured by Childhood Trauma Questionnaire. People with BPAD showed larger reactivity of affect and explicit self-esteem in response to experimental success and failure than did healthy controls. There were no significant differences in reactivity of implicit self-esteem. History of childhood trauma predicted increased affective reactivity to failure but not to success. We used a convenience sample. The present experimental paradigm reveals reactivity of affect and self-esteem as features of BPAD, which are present even during good remission and thus are accessible as targets of interventions aiming at relapse prevention. Differential associations with childhood adversity indicate aetiological heterogeneity, with reactivity to failure influenced by early trauma and reactivity to success driven by other mechanisms. Copyright © 2011 Elsevier B.V. All rights reserved.

  18. Why and how to assess the aetiological diagnosis of children with intellectual disability/mental retardation and other neurodevelopmental disorders: description of the Finnish approach.

    Science.gov (United States)

    Wilska, M L; Kaski, M K

    2001-01-01

    One of the most important tasks of a physician who has patients with delayed development is to assess the cause of the problem. To help with this work, an aetiological classification based on timing and type of the injury to the central nervous system (CNS), has been created. The main divisions are: genetic causes; CNS malformations and multiple malformation syndromes of unknown origin; external prenatal factors; paranatally acquired disorders (-1 to +4 weeks from delivery); postnatally acquired disorders; and untraceable or unclassified causes. In the classification, the earliest factor injuring the CNS is the primary diagnosis. The first stage, which consists of a quite simple workup, reveals the timing of the injury and allows the possibility for family counselling. The overview of the second stage assessment is also given. The 'aetiological tree' illustrates the classification method and serves as a reference and teaching aid. It can also be used for genetic counselling to demonstrate the situation. This method has been used for almost 20 years and has been proven to enhance diagnostic activity and family counselling.

  19. Beyond survival: 5-year neurodevelopmental follow-up of a cohort of preterm infants in Colombo, Sri Lanka.

    Science.gov (United States)

    Sumanasena, S P; Vipulaguna, D V; Mendis, M M; Gunawardena, N S

    2017-10-18

    There is a lack of information on long-term neurodevelopmental outcome in preterm neonates in low- and middle-income countries. To describe the developmental attainments of preterm neonates followed up for 5 years and to identify the risk factors for impairment. A prospective descriptive cohort study was undertaken in neonates of 34 weeks gestation born within a period of 12 months at a single tertiary maternity and neonatal unit in Colombo, Sri Lanka. Infants were assessed for neurodevelopment using the Bayley Infant and Toddler III® Assessments at 6, 12 and 24 months of corrected age and school readiness assessment at 5 years. Fifty-one infants were assessed at least once, 45 were assessed at 2 years and 39 had a final assessment at 5 years. Neurodevelopmental attainment deteriorated significantly in the cognitive and motor composite scores from 6 to 24 months (p < 0.05). By 5 years the number of children with delay in cognitive, language and motor domains had reduced significantly from 24 months (p < 0.05) but the cognitive skills remained most affected (10/39). At 5 years, 13 of 39 children had a confirmed diagnosis of a neurodevelopmental disorder: eight had attention deficit hyperactivity disorder, three autism spectrum disorder, one cerebral palsy and one visual impairment. Surfactant administration and retinopathy of prematurity were the most significant risks for delayed development at 5 years (p < 0.05). Deterioration of cognitive and motor composite scores over the first 24 months highlights the need for regular surveillance of premature infants. There was a discrepancy between the diagnosis of neurodevelopmental delay at 24 months and at 5 years. But the notable impact on school readiness skills requires public health initiatives to cater for the needs of these children.

  20. A study of hippocampal shape anomaly in schizophrenia and in families multiply affected by schizophrenia or bipolar disorder

    Energy Technology Data Exchange (ETDEWEB)

    Connor, S.E.J. [Department of Neuroradiology, Kings Healthcare NHS Trust, King' s College Hospital, Denmark Hill, SE5 9RS, London (United Kingdom); Ng, V. [Department of Neuroimaging, Maudsley Hospital, London (United Kingdom); McDonald, C.; Schulze, K.; Morgan, K.; Dazzan, P.; Murray, R.M. [Division of Psychological Medicine, Institute of Psychiatry, London (United Kingdom)

    2004-07-01

    Hippocampal shape anomaly (HSA), characterised by a rounded hippocampus, has been documented in congenital malformations and epileptic patients. Subtle structural hippocampal abnormalities have been demonstrated in patients with schizophrenia. We tested the hypothesis that HSA is more frequent in schizophrenia, particularly in patients from families multiply affected by schizophrenia, and that HSA is transmitted within these families. We also aimed to define the anatomical features of the hippocampus and other cerebral structures in the HSA spectrum and to determine the prevalence of HSA in a control group. We reviewed the magnetic resonance imaging of a large number of subjects with schizophrenia and bipolar disorder, many of who came from multiply affected families, relatives of the affected probands, and controls. Quantitative measures of hippocampal shape and position and other qualitative anatomical measures were performed (including depth of dominant sulcus cortical cap, angle of dominant sulcus and hippocampal fissure, bulk of collateral white matter, prominence of temporal horn lateral recess and blurring of internal hippocampal architecture) on subjects with HSA. A spectrum of mild, moderate and severe HSA was defined. The prevalence of HSA was, 7.8% for the controls (n=218), 9.3% for all schizophrenic subjects (n=151) and 12.3% for familial schizophrenic subjects (n=57). There was a greater prevalence of moderate or severe forms of HSA in familial schizophrenics than controls. However, there was no increase in the prevalence of HSA in the unaffected first-degree relatives of schizophrenic patients or in patients with familial bipolar disorder. HSA was rarely transmitted in families. HSA was frequently associated with a deep, vertical collateral/occipito-temporal sulcus and a steep hippocampal fissure. Our data raise the possibility that HSA is linked to disturbances of certain neurodevelopmental genes associated with schizophrenia. However, the lack of

  1. Negative Affect Instability among Individuals with Comorbid Borderline Personality Disorder and Posttraumatic Stress Disorder

    Science.gov (United States)

    Scheiderer, Emily M.; Wang, Ting; Tomko, Rachel L.; Wood, Phillip K.; Trull, Timothy J.

    2015-01-01

    Ecological momentary assessment (EMA; Stone & Shiffman, 1994) was utilized to examine affective instability (AI) in the daily lives of outpatients with borderline personality disorder (BPD; n=78) with and without posttraumatic stress disorder (PTSD). A psychiatric control group (n=50) composed of outpatients with major depressive disorder/dysthymia (MDD/DYS) was employed to compare across subgroups: BPD-only, BPD+PTSD, MDD/DYS-only, and MDD/DYS+PTSD. Compared to the BPD-only group, the BPD+PTSD group had significantly greater instability of fear and sadness, but did not significantly differ in instability of hostility or aggregate negative affect. This pattern of elevated instability of fear and sadness was not present—and, in fact, was reversed—in the MDD/DYS group. Results emphasize the importance of examining AI within the context of specific comorbidities and affect types. Treatment and research addressing AI in the context of BPD-PTSD comorbidity may benefit from a focus on fear and sadness as separate from hostility or general negative affect. PMID:26904388

  2. A longitudinal study of schizophrenia- and affective spectrum disorders in individuals diagnosed with a developmental language disorder as children

    DEFF Research Database (Denmark)

    Mouridsen, Svend Erik Birkebæk; Hauschild, K.M.

    2008-01-01

    The prevalence and types of schizophrenia- and affective spectrum disorders were studied in 469 individuals with a developmental language disorder (DLD), assessed in the same clinic during a period of 10 years, and 2,345 controls from the general population. All participants were screened through....... 1.8%; P language disorder was significantly associated with a schizophrenia spectrum disorder diagnosis in the DPCR. There was no significant increase in affective...

  3. A longitudinal study of schizophrenia- and affective spectrum disorders in individuals diagnosed with a developmental language disorder as children

    DEFF Research Database (Denmark)

    Mouridsen, Svend Erik; Hauschild, Karen-Marie

    2008-01-01

    The prevalence and types of schizophrenia- and affective spectrum disorders were studied in 469 individuals with a developmental language disorder (DLD), assessed in the same clinic during a period of 10 years, and 2,345 controls from the general population. All participants were screened through....... 1.8%; P language disorder was significantly associated with a schizophrenia spectrum disorder diagnosis in the DPCR. There was no significant increase in affective spectrum...

  4. Affective neural response to restricted interests in autism spectrum disorders.

    Science.gov (United States)

    Cascio, Carissa J; Foss-Feig, Jennifer H; Heacock, Jessica; Schauder, Kimberly B; Loring, Whitney A; Rogers, Baxter P; Pryweller, Jennifer R; Newsom, Cassandra R; Cockhren, Jurnell; Cao, Aize; Bolton, Scott

    2014-01-01

    Restricted interests are a class of repetitive behavior in autism spectrum disorders (ASD) whose intensity and narrow focus often contribute to significant interference with daily functioning. While numerous neuroimaging studies have investigated executive circuits as putative neural substrates of repetitive behavior, recent work implicates affective neural circuits in restricted interests. We sought to explore the role of affective neural circuits and determine how restricted interests are distinguished from hobbies or interests in typical development. We compared a group of children with ASD to a typically developing (TD) group of children with strong interests or hobbies, employing parent report, an operant behavioral task, and functional imaging with personalized stimuli based on individual interests. While performance on the operant task was similar between the two groups, parent report of intensity and interference of interests was significantly higher in the ASD group. Both the ASD and TD groups showed increased BOLD response in widespread affective neural regions to the pictures of their own interest. When viewing pictures of other children's interests, the TD group showed a similar pattern, whereas BOLD response in the ASD group was much more limited. Increased BOLD response in the insula and anterior cingulate cortex distinguished the ASD from the TD group, and parent report of the intensity and interference with daily life of the child's restricted interest predicted insula response. While affective neural network response and operant behavior are comparable in typical and restricted interests, the narrowness of focus that clinically distinguishes restricted interests in ASD is reflected in more interference in daily life and aberrantly enhanced insula and anterior cingulate response to individuals' own interests in the ASD group. These results further support the involvement of affective neural networks in repetitive behaviors in ASD. © 2013 The

  5. Tooth dentin defects reflect genetic disorders affecting bone mineralization

    Science.gov (United States)

    Vital, S. Opsahl; Gaucher, C.; Bardet, C.; Rowe, P.S.; George, A.; Linglart, A.; Chaussain, C.

    2012-01-01

    Several genetic disorders affecting bone mineralization may manifest during dentin mineralization. Dentin and bone are similar in several aspects, especially pertaining to the composition of the extracellular matrix (ECM) which is secreted by well-differentiated odontoblasts and osteoblasts, respectively. However, unlike bone, dentin is not remodelled and is not involved in the regulation of calcium and phosphate metabolism. In contrast to bone, teeth are accessible tissues with the shedding of deciduous teeth and the extractions of premolars and third molars for orthodontic treatment. The feasibility of obtaining dentin makes this a good model to study biomineralization in physiological and pathological conditions. In this review, we focus on two genetic diseases that disrupt both bone and dentin mineralization. Hypophosphatemic rickets is related to abnormal secretory proteins involved in the ECM organization of both bone and dentin, as well as in the calcium and phosphate metabolism. Osteogenesis imperfecta affects proteins involved in the local organization of the ECM. In addition, dentin examination permits evaluation of the effects of the systemic treatment prescribed to hypophosphatemic patients during growth. In conclusion, dentin constitutes a valuable tool for better understanding of the pathological processes affecting biomineralization. PMID:22296718

  6. Affective and cognitive empathy in adolescents with autism spectrum disorder

    Directory of Open Access Journals (Sweden)

    Monica eMazza

    2014-10-01

    Full Text Available The broad construct of empathy incorporates both cognitive and affective dimensions. Recent evidence suggests that the subjects with Autistic Spectrum disorder (ASD show a significant impairment in empathic ability. The aim of this study was to evaluate the cognitive and affective components of empathy in adolescents with ASD compared to controls. Fifteen adolescents with ASD and fifteen controls underwent paper and pencil measures and a computerized Multifaceted Empathy Test. All measures were divided into Mentalizing and Experience sharing abilities. Adolescents with ASD compared to controls showed deficits in all mentalizing measures: they were incapable of interpreting and understanding the mental and emotional states of other people. Instead, in the sharing experience measures, the adolescents with ASD were able to empathize with the emotional experience of other people when they express emotions with positive valence, but were not able to do so when the emotional valence is negative. These results were confirmed by the computerized task. In conclusion, our results suggest that adolescents with ASD show a difficulty in cognitive empathy, whereas the deficit in affective empathy is specific for the negative emotional valence.

  7. Sensory modulation and affective disorders in children and adolescents with Asperger's disorder.

    Science.gov (United States)

    Pfeiffer, Beth; Kinnealey, Moya; Reed, Carol; Herzberg, Georgiana

    2005-01-01

    The purpose of the study was to determine if there were significant relationships between dysfunction in sensory modulation, symptoms of affective disorders, and adaptive behaviors in children and adolescents with Asperger's disorder between 6 and 17 years of age. Parents of 50 children and adolescents between 6 and 17 years of age diagnosed with Asperger's disorder based on the Diagnostic and Statistical Manual of Mental Disorders-IV criteria completed the (a) Sensory Profile for children 6 to 10 years of age or the Adolescent/Adult Sensory Profile for adolescents 11 to 17 years of age; (b) the Adaptive Behavior Assessment System: Parent Version; (c) Revised Children's Manifest Anxiety Scale Adapted Parent's Version; and (d) the Children's Depression Inventory Adapted Parent's Version. Descriptive statistics and the Pearson product-moment coefficient of correlation calculations were used for data analysis. The results indicated that there were significantly strong positive correlations between sensory defensiveness and anxiety (r = .476, p = .000) in children and adolescents with Asperger's disorder. There were also significant relationships between symptoms of depression and hyposensitivity in the total group (r = .214, p = .05) and the older group (r = .492, p = .027). There were no significant relationships between depression and overall adaptive behavior (r = -.243, p = .089) or anxiety and overall adaptive behavior (r = -.108, p = .455). Significantly strong inverse relationships were found between the specific adaptive behaviors of functional academics, leisure, social skills, and symptoms of depression. Functional academics were also significantly inversely related to anxiety. Specifically, sensory hyper- and hypersensitivity were significantly inversely related to community use and social skills. The data supports positive relationships between anxiety and sensory defensiveness in all age ranges and a relationship between depression and hyposensitivity in

  8. Cannabinoid Receptor Type 2, but Not Type 1, Is Up-Regulated in Peripheral Blood Mononuclear Cells of Children Affected by Autistic Disorders

    Science.gov (United States)

    Siniscalco, Dario; Sapone, Anna; Giordano, Catia; Cirillo, Alessandra; de Magistris, Laura; Rossi, Francesco; Fasano, Alessio; Bradstreet, James Jeffrey; Maione, Sabatino; Antonucci, Nicola

    2013-01-01

    Autistic disorders (ADs) are heterogeneous neurodevelopmental disorders arised by the interaction of genes and environmental factors. Dysfunctions in social interaction and communication skills, repetitive and stereotypic verbal and non-verbal behaviours are common features of ADs. There are no defined mechanisms of pathogenesis, rendering…

  9. Affect recognition among adolescents in therapeutic schools: relationships with posttraumatic stress disorder and conduct disorder symptoms.

    Science.gov (United States)

    Javdani, Shabnam; Sadeh, Naomi; Donenberg, Geri R; Emerson, Erin; Houck, Christopher; Brown, Larry K

    2017-02-01

    Posttraumatic stress disorder (PTSD) and conduct disorder (CD) symptoms often co-occur in adolescence, but little is known about whether they show common or distinct emotional processing deficits. We examined the effects of PTSD and CD symptoms on facial affect processing in youth with emotional and behavior problems. Teens enrolled in therapeutic day schools (N = 371; ages 13-19) completed a structured diagnostic assessment and the Diagnostic Analysis of Nonverbal Accuracy-2 facial affect recognition task. PTSD symptoms were associated with deficits in the recognition of angry facial expressions, specifically the false identification of angry faces as fearful. CD symptoms were associated with greater difficulty correctly identifying sadness. Findings suggest specificity in the relationships of PTSD and CD symptoms with emotional processing.

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

    African Journals Online (AJOL)

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

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

    Directory of Open Access Journals (Sweden)

    David J Mellert

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

  12. Bipolar affective disorder: A review of novel forms of therapy

    Directory of Open Access Journals (Sweden)

    Dziwota Ewelina

    2015-06-01

    Full Text Available Normothymic, antidepressant and antipsychotic pharmaceutics are, in accordance with international guidelines, employed both in the therapy and the prevention of bipolar disorder (BD. Long-term studies on the mechanisms of action of such medications, as well as on the pathogenetic background of BD, have led to the discovery of effective, albeit unconventional pharmacotherapeutic approaches. These methods have the potential to successfully treat mania and depression, as well as to counter affective episode relapse. Allopurinol - commonly used to treat gout, secondary hyperuricemia and Lesch-Nyhan syndrome, acts by inhibiting the synthesis of uric acid, levels of which are often increased in manic patients. Due to this, an evaluation of the potential effect of allopurinol on the reduction of mania symptoms seems to be reasonable. Additionally, the numerable research papers coming out of research regarding the role of purine neurotransmitters in mood alterations, indicate that adenosine agonists act analogously to dopamine antagonists.

  13. A cholinergic hypothesis of the unconscious in affective disorders.

    Directory of Open Access Journals (Sweden)

    Costa eVakalopoulos

    2013-11-01

    Full Text Available The interactions between distinct pharmacological systems are proposed as a key dynamic in the formation of unconscious memories underlying rumination and mood disorder, but also reflect the plastic capacity of neural networks that can aid recovery. An inverse and reciprocal relationship is postulated between cholinergic and monoaminergic receptor subtypes. M1-type muscarinic receptor transduction facilitates encoding of unconscious, prepotent behavioural repertoires at the core of affective disorders and ADHD. Behavioural adaptation to new contingencies is mediated by the classic prototype receptor: 5-HT1A (Gi/o and its modulation of m1-plasticity. Reversal of learning is dependent on increased phasic activation of midbrain monoaminergic nuclei and is a function of hippocampal theta. Acquired hippocampal dysfunction due to abnormal activation of the hypothalamic-pituitary-adrenal (HPA axis predicts deficits in hippocampal-dependent memory and executive function and further impairments to cognitive inhibition. Encoding of explicit memories is mediated by Gq/11 and Gs signalling of monoamines only. A role is proposed for the phasic activation of the basal forebrain cholinergic nucleus by cortical projections from the complex consisting of the insula and claustrum. Although controversial. recent studies suggest a common ontogenetic origin of the two structures and a functional coupling. Lesions of the region result in loss of motivational behaviour and familiarity based judgements. A major hypothesis of the paper is that these lost faculties result indirectly, from reduced cholinergic tone.

  14. Altered resting-state activity in seasonal affective disorder.

    Science.gov (United States)

    Abou Elseoud, Ahmed; Nissilä, Juuso; Liettu, Anu; Remes, Jukka; Jokelainen, Jari; Takala, Timo; Aunio, Antti; Starck, Tuomo; Nikkinen, Juha; Koponen, Hannu; Zang, Yu-Feng; Tervonen, Osmo; Timonen, Markku; Kiviniemi, Vesa

    2014-01-01

    At present, our knowledge about seasonal affective disorder (SAD) is based mainly up on clinical symptoms, epidemiology, behavioral characteristics and light therapy. Recently developed measures of resting-state functional brain activity might provide neurobiological markers of brain disorders. Studying functional brain activity in SAD could enhance our understanding of its nature and possible treatment strategies. Functional network connectivity (measured using ICA-dual regression), and amplitude of low-frequency fluctuations (ALFF) were measured in 45 antidepressant-free patients (39.78 ± 10.64, 30 ♀, 15 ♂) diagnosed with SAD and compared with age-, gender- and ethnicity-matched healthy controls (HCs) using resting-state functional magnetic resonance imaging. After correcting for Type 1 error at high model orders (inter-RSN correction), SAD patients showed significantly increased functional connectivity in 11 of the 47 identified RSNs. Increased functional connectivity involved RSNs such as visual, sensorimotor, and attentional networks. Moreover, our results revealed that SAD patients compared with HCs showed significant higher ALFF in the visual and right sensorimotor cortex. Abnormally altered functional activity detected in SAD supports previously reported attentional and psychomotor symptoms in patients suffering from SAD. Further studies, particularly under task conditions, are needed in order to specifically investigate cognitive deficits in SAD. Copyright © 2012 Wiley Periodicals, Inc.

  15. Abnormal hypothalamic response to light in Seasonal Affective Disorder

    Science.gov (United States)

    Gilles, Vandewalle; Marc, Hébert; Catherine, Beaulieu; Laurence, Richard; Véronique, Daneault; Marie-Lou, Garon; Jean, Leblanc; Didier, Grandjean; Pierre, Maquet; Sophie, Schwartz; Marie, Dumont; Julien, Doyon; Julie, Carrier

    2017-01-01

    Background Vulnerability to the reduction in natural light associated with fall/winter is generally accepted as the main trigger of Seasonal Affective Disorder (SAD), while light therapy is a treatment of choice of the disorder. However, the relationship between exposure to light and mood regulation remains unclear. As compared to green light, blue light was shown to acutely modulate emotion brain processing in healthy individuals. Here, we investigated the impact of light on emotion brain processing in patients with SAD and healthy controls and its relationship with retinal light sensitivity. Methods Fourteen symptomatic untreated patients with SAD (34.5 ± 8.2 y.o.; 9F) and sixteen healthy controls (32.3 ± 7.7 y.o.; 11F) performed an auditory emotional task in functional Magnetic Resonance Imaging (fMRI) during the fall/winter season, while being exposed to alternating blue and green monochromatic light. Scotopic and photopic retinal light sensitivities were then evaluated using electroretinography. Results Blue light enhanced responses to auditory emotional stimuli in the posterior hypothalamus in patients with SAD, while green light decreased these responses. These effects of blue and green light were not observed in healthy controls despite similar retinal sensitivity in SAD and control subjects. Conclusions; These results point to the posterior hypothalamus as the neurobiological substrate involved in specific aspects of SAD, including a distinctive response to light and altered emotional responses. PMID:21820647

  16. Prevalence and correlates of binge eating in seasonal affective disorder.

    Science.gov (United States)

    Donofry, Shannon D; Roecklein, Kathryn A; Rohan, Kelly J; Wildes, Jennifer E; Kamarck, Marissa L

    2014-06-30

    Eating pathology in Seasonal Affective Disorder (SAD) may be more severe than hyperphagia during winter. Although research has documented elevated rates of subclinical binge eating in women with SAD, the prevalence and correlates of binge eating disorder (BED) in SAD remain largely uncharacterized. We examined the prevalence and correlates of binge eating, weekly binge eating with distress, and BED as defined by the DSM-IV-TR in SAD. We also tested whether binge eating exhibits a seasonal pattern among individuals with BED. Two samples were combined to form a sample of individuals with SAD (N=112). A third sample included non-depressed adults with clinical (n=12) and subclinical (n=11) BED. All participants completed the Questionnaire of Eating and Weight Patterns-Revised (QEWP-R) and modified Seasonal Pattern Assessment Questionnaire (M-SPAQ). In the SAD sample, 26.5% reported binge eating, 11.6% met criteria for weekly binge eating with distress, and 8.9% met criteria for BED. Atypical symptom severity predicted binge eating and BED. In the BED sample, 30% endorsed seasonal worsening of mood, and 26% reported a winter pattern of binge eating. The spectrum of eating pathology in SAD includes symptoms of BED, which are associated with atypical depression symptoms, but typical depression symptoms. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  17. Musculoskeletal Disorders among Dental Practitioners: Does It Affect Practice?

    Directory of Open Access Journals (Sweden)

    Dhanya Muralidharan

    2013-01-01

    Full Text Available Background. Literature reviews world over have shown a high prevalence of musculoskeletal disorders among dental practitioners. Prevalence of MSD among dental practitioners in India is not well documented. Aim. To determine the prevalence and distribution of MSD among dental practitioners in a city in the southern state of Andhra Pradesh, India. Material and Methods. A cross sectional descriptive study in which a self-administered questionnaire (the Standardized Nordic questionnaire was used to assess the musculoskeletal symptoms among dental practitioners. The recorded data was analyzed with SPSS 13. -value 0.05 was considered to statistically significant. Results. Seventy-three dental practitioners participated in the study of which seventy-eight percent had a prevalence of at least one MSD symptom over the past twelve months. Most common areas affected by MSD in order of magnitude were neck (52%, low back (41%, shoulders (29% and wrist (26%. One third of the practitioners (40% required sick leave from their practice during the preceding twelve months. Conclusions. High prevalence of MSD exists among our dental practitioners affecting the daily practice of more than one third. Further studies are needed to identify the specific risk factors for MSD so as to introduce effective remedial measures.

  18. Academic underachievement: A neurodevelopmental perspective

    Directory of Open Access Journals (Sweden)

    K. Shapiro Bruce, MD

    2011-03-01

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

  19. Psychosocial Functioning in Depressive Patients: A Comparative Study between Major Depressive Disorder and Bipolar Affective Disorder

    Directory of Open Access Journals (Sweden)

    Shubham Mehta

    2014-01-01

    Full Text Available Introduction. Major depressive disorder (MDD and bipolar affective disorder (BAD are among the leading causes of disability. These are often associated with widespread impairments in all domains of functioning including relational, occupational, and social. The main aim of the study was to examine and compare nature and extent of psychosocial impairment of patients with MDD and BAD during depressive phase. Methodology. 96 patients (48 in MDD group and 48 in BAD group were included in the study. Patients were recruited in depressive phase (moderate to severe depression. Patients having age outside 18–45 years, psychotic symptoms, mental retardation, and current comorbid medical or axis-1 psychiatric disorder were excluded. Psychosocial functioning was assessed using Range of Impaired Functioning Tool (LIFE-RIFT. Results. Domains of work, interpersonal relationship, life satisfaction, and recreation were all affected in both groups, but the groups showed significant difference in global psychosocial functioning score only (P=0.031 with BAD group showing more severe impairment. Conclusion. Bipolar depression causes higher global psychosocial impairment than unipolar depression.

  20. Psychosocial Functioning in Depressive Patients: A Comparative Study between Major Depressive Disorder and Bipolar Affective Disorder.

    Science.gov (United States)

    Mehta, Shubham; Mittal, Pankaj Kumar; Swami, Mukesh Kumar

    2014-01-01

    Introduction. Major depressive disorder (MDD) and bipolar affective disorder (BAD) are among the leading causes of disability. These are often associated with widespread impairments in all domains of functioning including relational, occupational, and social. The main aim of the study was to examine and compare nature and extent of psychosocial impairment of patients with MDD and BAD during depressive phase. Methodology. 96 patients (48 in MDD group and 48 in BAD group) were included in the study. Patients were recruited in depressive phase (moderate to severe depression). Patients having age outside 18-45 years, psychotic symptoms, mental retardation, and current comorbid medical or axis-1 psychiatric disorder were excluded. Psychosocial functioning was assessed using Range of Impaired Functioning Tool (LIFE-RIFT). Results. Domains of work, interpersonal relationship, life satisfaction, and recreation were all affected in both groups, but the groups showed significant difference in global psychosocial functioning score only (P = 0.031) with BAD group showing more severe impairment. Conclusion. Bipolar depression causes higher global psychosocial impairment than unipolar depression.

  1. Predictors of Suicide Attempts in 3.322 Patients with Affective Disorders and Schizophrenia Spectrum Disorders

    Science.gov (United States)

    Yuen, Eunice Y.; Fink, Sabina; Duque, Laura M.; Kane, John M.

    2015-01-01

    This study explores risk factors for suicide attempts using the electronic health records of 3,322 patients with either schizophrenia spectrum disorders or affective disorders who underwent a comprehensive psychiatric evaluation at the Emergency Department at the Long Island Jewish Medical Center or the Hillside Evaluation Center at The Zucker Hillside Hospital from August 3rd 2011 to July 5th 2012. Multivariate regression analyses showed, after adjusting for sex, that previous suicidal attempts and financial or relationship losses were significantly associated with a current suicidal attempt. Additionally, higher odds of having a suicidal attempt were also found in those subjects with a diagnosis of an affective disorder, compared to a schizophrenia spectrum diagnosis, and those patients in the children/adolescent group compared to those in the adult/elderly group. Our study results confirm and expand results from prior studies. Therefore, physicians should be alert for the presence of any or all of these factors upon evaluation of psychiatric patients, and if present, either psychiatric hospitalization or a close psychiatric follow up in collaboration with family and a therapist would be key in reducing the risk of potential suicidal behavior. PMID:26077849

  2. Retinoic acid and affective disorders: the evidence for an association.

    Science.gov (United States)

    Bremner, J Douglas; Shearer, Kirsty D; McCaffery, Peter J

    2012-01-01

    with suicide in a subgroup of vulnerable individuals. The relationship between isotretinoin and depression may have implications for a greater understanding of the neurobiology of affective disorders. © Copyright 2012 Physicians Postgraduate Press, Inc.

  3. Interleukin-18 modulation in autism spectrum disorders

    NARCIS (Netherlands)

    Businaro, R.; Corsi, M.; Azzara, G.; Di Raimo, T.; Laviola, G.; Romano, E.; Ricci, L.; Maccarrone, M.; Aronica, E.; Fuso, A.; Ricci, S.

    2016-01-01

    BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disease which affects 1 in 88 children. Its etiology remains basically unknown, but it is apparent that neuroinflammation is involved in disease development. Great attention has been focused on pro-inflammatory cytokines, and several

  4. Epidemiology and socioeconomic impact of seasonal affective disorder in Austria.

    Science.gov (United States)

    Pjrek, E; Baldinger-Melich, P; Spies, M; Papageorgiou, K; Kasper, S; Winkler, D

    2016-02-01

    Seasonal affective disorder (SAD) is a subtype of recurrent depressive or bipolar disorder that is characterized by regular onset and remission of affective episodes at the same time of the year. The aim of the present study was to provide epidemiological data and data on the socioeconomic impact of SAD in the general population of Austria. We conducted a computer-assisted telephone interview in 910 randomly selected subjects (577 females and 333 males) using the Seasonal Health Questionnaire (SHQ), the Seasonal Pattern Assessment Questionnaire (SPAQ), and the Sheehan Disability Scale (SDS). Telephone numbers were randomly drawn from all Austrian telephone books and transformed using the random last digits method. The last birthday method was employed to choose the target person for the interviews. Out of our subjects, 2.5% fulfilled criteria for the seasonal pattern specifier according to DSM-5 and 2.4% (95% CI=1.4-3.5%) were diagnosed with SAD. When applying the ICD-10 criteria 1.9% (95% CI=0.9-2.8%) fulfilled SAD diagnostic criteria. The prevalence of fall-winter depression according to the Kasper-Rosenthal criteria was determined to be 3.5%. The criteria was fulfilled by 15.1% for subsyndromal SAD (s-SAD). We did not find any statistically significant gender differences in prevalence rates. When using the DSM-5 as a gold standard for the diagnosis of SAD, diagnosis derived from the SPAQ yielded a sensitivity of 31.8% and a specificity of 97.2%. Subjects with SAD had significantly higher scores on the SDS and higher rates of sick leave and days with reduced productivity than healthy subjects. Prevalence estimates for SAD with the SHQ are lower than with the SPAQ. Our data are indicative of the substantial burden of disease and the socioeconomic impact of SAD. This epidemiological data shows a lack of gender differences in SAD prevalence. The higher rates of females in clinical SAD samples might, at least in part, be explained by lower help seeking behaviour in

  5. Comparative neuropsychiatry: white matter abnormalities in children and adolescents with schizophrenia, bipolar affective disorder, and obsessive-compulsive disorder.

    Science.gov (United States)

    White, T; Langen, C; Schmidt, M; Hough, M; James, A

    2015-02-01

    There is considerable evidence that white matter abnormalities play a key role in the pathogenesis of a number of major psychiatric disorders, including schizophrenia, bipolar affective disorder, and obsessive-compulsive disorder. Few studies, however, have compared white matter abnormalities early in the course of the illness. A total of 102 children and adolescents participated in the study, including 43 with early-onset schizophrenia, 13 with early-onset bipolar affective disorder, 17 with obsessive-compulsive disorder, and 29 healthy controls. Diffusion tensor imaging scans were obtained on all children and the images were assessed for the presence of non-spatially overlapping regions of white matter differences, a novel algorithm known as the pothole approach. Patients with early-onset schizophrenia and early-onset bipolar affective disorder had a significantly greater number of white matter potholes compared to controls, but the total number of potholes did not differ between the two groups. The volumes of the potholes were significantly larger in patients with early-onset bipolar affective disorder compared to the early-onset schizophrenia group. Children and adolescents with obsessive-compulsive disorder showed no differences in the total number of white matter potholes compared to controls. White matter abnormalities in early-onset schizophrenia and bipolar affective disorder are more global in nature, whereas children and adolescents with obsessive-compulsive disorder do not show widespread differences in FA. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  6. Affect intensity measure in bipolar disorders: a multidimensional approach.

    Science.gov (United States)

    Mathieu, F; Etain, B; Daban, C; Raymond, R; Raust, A; Cochet, B; Gard, S; M'Bailara, K; Desage, A; Kahn, J P; Wajsbrot-Elgrabli, O; Cohen, R F; Azorin, J M; Leboyer, M; Bellivier, F; Scott, J; Henry, C

    2014-03-01

    Emotional dysregulation, characterized by high levels of both arousal and intensity of emotional responses, is a core feature of bipolar disorders (BDs). In non-clinical populations, the 40-item Affect Intensity Measure (AIM) can be used to assess the different dimensions of emotional reactivity. We analyzed the factor structure of the AIM in a sample of 310 euthymic patients with BD using Principal Component Analysis and examined associations between AIM sub-scale scores and demographic and illness characteristics. The French translation of the AIM demonstrated good reliability. A four-factor solution similar to that reported in non-clinical samples (Positive Affectivity, Unpeacefulness [lack of Serenity], Negative Reactivity, Negative Intensity), explained 47% of the total variance. Age and gender were associated with Unpeacefulness and Negative reactivity respectively. 'Unpeacefulness' was also positively associated with psychotic symptoms at onset (p=0.0006), but negatively associated with co-morbid substance misuse (p=0.008). Negative Intensity was positively associated with social phobia (p=0.0005). We cannot definitively exclude a lack of statistical power to classify all AIM items. Euthymia was carefully defined, but a degree of 'contamination' of the self-reported levels of emotion reactivity may occur because of subsyndromal BD symptoms. It was not feasible to control for the possible impact of on-going treatments. The AIM scale appears to be a useful measure of emotional reactivity and intensity in a clinical sample of patients with BD, suggesting it can be used in addition to other markers of BD characteristics and sub-types. Copyright © 2014 Elsevier B.V. All rights reserved.

  7. Bupropion for the treatment of seasonal affective disorder.

    Science.gov (United States)

    Niemegeers, Peter; Dumont, Glenn J H; Patteet, Lisbeth; Neels, Hugo; Sabbe, Bernard G C

    2013-09-01

    Seasonal affective disorder (SAD) is a psychiatric illness with recurring depressive episodes during particular seasons, mostly winter. Bupropion is effective in the preventive treatment of SAD and is probably also effective in the acute treatment of SAD. This review covers the pharmacokinetics and pharmacodynamics of bupropion. The authors also evaluate bupropion's clinical efficacy as well as its safety and tolerability. Bupropion is available in an immediate release formulation, as well as a sustained release formulation and an extended release (XR) formulation. The XR formulation is recommended for SAD due to its ease of use and is the only formulation currently used as a therapy. Due to the predictable nature of SAD, the use of bupropion XR is considered a relevant treatment option. Bupropion's efficacy is shown in three trials that started in autumn at a time when SAD symptoms were not yet present although treatment effects were relatively small compared with a placebo. Bupropion was also shown to have efficacy in an open-label study. That being said, in order to reach definitive conclusions about its efficacy with acute treatment of SAD, more placebo-controlled trials are needed.

  8. Lux vs. wavelength in light treatment of Seasonal Affective Disorder.

    Science.gov (United States)

    Anderson, J L; Glod, C A; Dai, J; Cao, Y; Lockley, S W

    2009-09-01

    Published dosing guidelines for treatment of Seasonal Affective Disorder (SAD) refer to photopic lux, which is not appropriate for short-wavelength light. Short wavelengths are most potent for many non-visual responses to light. If SAD therapy were similarly mediated, standards utilizing lux risk overestimating necessary dose. We investigated antidepressant responses to light using two light-emitting diode (LED) sources, each emitting substantial short-wavelength light, but <2500 lux. A randomized, double-blind trial investigated 3-week 45 min/day out-patient treatment with blue-appearing (goLITE) or blue-enriched white-appearing light in 18 moderately-depressed adults (12F, 49.1 +/- 9.5 years). Equivalent numbers of photons within the short-wavelength range were emitted, but the white source emitted twice as many photons overall and seven-fold more lux. Depression ratings (SIGH-ADS; http://www.cet.org) decrease averaged 82% (SD = 17%) from baseline (P < 0.0001) in both white- and blue-light groups. Both sources were well tolerated. Short-wavelength LED light sources may be effective in SAD treatment at fewer lux than traditional fluorescent sources.

  9. An overview of seasonal affective disorder and its treatment options.

    Science.gov (United States)

    Howland, Robert H

    2009-12-01

    Seasonal affective disorder (SAD) is defined as a history of major depressive episodes that recur regularly at a particular time of year. Depending on the diagnostic instruments and criteria available, the reported prevalence (1%-10%) varies. Neurotransmitter abnormalities have been implicated in the pathophysiology, but they do not necessarily explain the seasonal pattern or the known chronobiological abnormalities in SAD compared with nonseasonal depression. Circadian rhythm abnormalies have been hypothesized to account for these aspects of SAD, and they provide a rationale for the therapeutic use of light therapy. Family history, twin, and molecular genetics studies suggest that hereditary factors are also involved. Light therapy and antidepressant medication are effective treatment options, with limited evidence for the efficacy of psychotherapy. Some studies demonstrate that narrow-band short wavelength "blue" light, naturalistic dawn simulation, and high-density negative air ionization are effective. Patients should be informed of the benefits of diet and exercise. Light therapy should be clinically monitored in the same manner, as it is done for other antidepressant treatments.

  10. Prevalence and correlates of binge eating in seasonal affective disorder

    Science.gov (United States)

    Donofry, Shannon D.; Roecklein, Kathryn A.; Rohan, Kelly J.; Wildes, Jennifer E.; Kamarck, Marissa L.

    2014-01-01

    Eating pathology in Seasonal Affective Disorder (SAD) may be more severe than hyperphagia during winter. Although research has documented elevated rates of subclinical binge eating in women with SAD, the prevalence and correlates of BED in SAD remain largely uncharacterized. We examined the prevalence and correlates of binge eating, weekly binge eating with distress, and BED as defined by the DSM-IV-TR in SAD. We also tested whether binge eating exhibits a seasonal pattern among individuals with BED. Two samples were combined to form a sample of individuals with SAD (N = 112). A third sample included non-depressed adults with clinical (n=12) and subclinical (n=11) BED. All participants completed the Questionnaire of Eating and Weight Patterns-Revised (QEWP-R) and modified Seasonal Pattern Assessment Questionnaire (M-SPAQ). In the SAD sample, 26.5% reported binge eating, 11.6% met criteria for weekly binge eating with distress, and 8.9% met criteria for BED. Atypical symptom severity predicted binge eating and BED. In the BED sample, 30% endorsed seasonal worsening of mood, and 26% reported a winter pattern of binge eating. The spectrum of eating pathology in SAD includes symptoms of BED, which are associated with atypical depression symptoms, but typical depression symptoms. PMID:24680872

  11. Diagnostic issues affecting the epidemiology of fetal alcohol spectrum disorders.

    Science.gov (United States)

    Farag, Mena

    2014-01-01

    Epidemiological measures of the prevalence of fetal alcohol spectrum disorders (FASD) vary greatly in the literature. Irrespective of the methodology, the criteria to define a 'case' are set by the researchers. Hence, estimates of the prevalence of FASD primarily depend on the diagnostic criteria currently available. The problem lies therein - the aforementioned criteria are ill-defined. A critical analysis of the diagnostic criteria from the Institute of Medicine, Hoyme, 4-Digit Diagnostic Code and Canadian guidelines was performed, with particular attention focused on the inconsistencies in specificities of the fetal alcohol syndrome (FAS) facial phenotype. To date, the Canadian guidelines represent the only guidelines that have pushed for a uniform diagnostic capacity through harmonizing the IoM and 4-Digit Diagnostic Code criteria. In the absence of a reliable biochemical marker of effect to confirm maternal drinking during pregnancy, the importance and dependence on diagnostic guidelines for FASD is understated. With the availability of four published guidelines for diagnoses across the spectrum of FASD, there is a need to reach a set standard globally. There are profound implications of relaxed and strict diagnostic approaches on FAS prevalence reporting in the literature. This review exposes the clinical burden of diagnosing the range of FASD with disputing diagnostic criteria. Discrepancies in the criteria pose a danger to the validity of FASD diagnoses with respect to inaccurate estimates of incidence and prevalence. In turn, these discrepancies risk compromising the future healthcare of affected individuals with regards to intervention, counselling and treatment.

  12. Central tetrahydrobiopterin concentration in neurodevelopmental disorders

    Directory of Open Access Journals (Sweden)

    Richard E Frye

    2010-07-01

    Full Text Available Tetrahydrobiopterin (BH4 is a naturally occurring cofactor essential for critical metabolic pathways. Studies suggest that BH4 supplementation may ameliorate autism symptoms; the biological mechanism for such an effect is unknown. To help understand the relation between central BH4 concentration and systemic metabolism and to develop a biomarker of central BH4 concentration, the relationship between cerebrospinal fluid BH4 concentration and serum amino acids was studied. BH4 concentration was found to be distributed in two groups, a lower and higher BH4 concentration group. Two serum amino acids, citrulline and methionine, differentiated these groups, and the ratio of serum citrulline-to-methionine was found to correlate with the cerebrospinal fluid BH4 concentration (r = -0.67, p < 0.05. Both citrulline and methionine are substrates in inflammation and oxidative stress pathways - two pathways that utilize BH4 and are abnormally activated in autism. These data suggests that central BH4 concentration may be related to systemic inflammation and oxidative stress pathways.

  13. Early Care in Children with Neurodevelopmental Disorders

    Science.gov (United States)

    Ponce-Meza, Jacqueline

    2017-01-01

    The article analyzes the importance of early care in child development, guiding a neuropsychological perspective of development. The early care model seeks to refer to the set of interventions aimed at children and their work in conjunction with a multidisciplinary team. It presents recommendations for the implementation of programs that allow…

  14. Relationship of Myers Briggs type indicator personality characteristics to suicidality in affective disorder patients.

    Science.gov (United States)

    Janowsky, David S; Morter, Shirley; Hong, Liyi

    2002-01-01

    The current study characterized the Myers Briggs Type Indicator (MBTI) personality profiles of 64 suicidal and 30 non-suicidal psychiatric inpatients with affective disorder diagnoses. The MBTI divides individuals categorically into eight personality preferences (Extroverted and Introverted, Sensing and Intuitive, Thinking and Feeling, and Judging and Perceiving). Compared to the group of non-suicidal affective disorder patients, suicidal affective disorder patients were significantly more Introverted and Perceiving using ANCOVA analyses, and significantly more Introverted alone using Chi Square analyses.

  15. Occurrence of the Cys311 DRD2 variant in a pedigree multiply affected with panic disorder

    Energy Technology Data Exchange (ETDEWEB)

    Crawford, F.; Hoyne, J.; Diaz, P. [Univ. of South Florida, Tampa, FL (United States)] [and others

    1995-08-14

    Following the detection of the rare DRD2 codon 311 variant (Ser{yields}Cys) in an affected member from a large, multiply affected panic disorder family, we investigated the occurrence of this variant in other family members. The variant occurred in both affected and unaffected individuals. Further screening in panic disorder sib pairs unrelated to this family failed to detect the Cys311 variant. Our data suggests that this variant has no pathogenic role in panic disorder. 18 refs., 1 fig.

  16. The Relationship between Sleep-Wake Cycle and Cognitive Functioning in Young People with Affective Disorders

    OpenAIRE

    Carpenter, Joanne S.; Rébecca Robillard; Lee, Rico S.C.; Hermens, Daniel F.; Naismith, Sharon L.; Django White; Bradley Whitwell; Scott, Elizabeth M.; Hickie, Ian B

    2015-01-01

    Although early-stage affective disorders are associated with both cognitive dysfunction and sleep-wake disruptions, relationships between these factors have not been specifically examined in young adults. Sleep and circadian rhythm disturbances in those with affective disorders are considerably heterogeneous, and may not relate to cognitive dysfunction in a simple linear fashion. This study aimed to characterise profiles of sleep and circadian disturbance in young people with affective disord...

  17. Seasonal affective disorder and alcohol abuse disorder in a population-based study.

    Science.gov (United States)

    Morales-Muñoz, Isabel; Koskinen, Seppo; Partonen, Timo

    2017-07-01

    Seasonal affective disorder (SAD) is a recurrent major depressive disorder with a seasonal pattern, which is characterized by sad mood, low energy, longer sleep duration and carbohydrate craving. Furthermore, seasonal changes in mood and behavior may be closely related to alcohol use disorder (AUD). Nevertheless, there is scarce research on the study of cognitive impairments in SAD and AUD. We aimed to examine the relationship between the prevalence between SAD and AUD patients, and how cognitive functioning might be related to these variables. To do this, a sample of 8135 Finnish subjects was invited to take part in the population-based Health 2011 Survey, of whom 5903 did participate and 4554 were interviewed for mental health status with the Munich version of Composite International Diagnostic Interview. They also completed the modified Seasonal Pattern Assessment Questionnaire, the Mini-Mental State Examination, the category (animals) verbal fluency test, and the Rey Auditory Verbal Learning Test. Our results reveal the existence of a strong link between SAD and AUD in a large sample of Finnish population, as well as association between SAD and short-term memory problems. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

  18. Neurodevelopmental model of schizophrenia: update 2012

    National Research Council Canada - National Science Library

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

    2012-01-01

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

  19. Baseline characteristics of depressive disorders in Thai outpatients: findings from the Thai Study of Affective Disorders

    Directory of Open Access Journals (Sweden)

    Wongpakaran T

    2014-01-01

    Full Text Available Tinakon Wongpakaran,1 Nahathai Wongpakaran,1 Manee Pinyopornpanish,1 Usaree Srisutasanavong,1 Peeraphon Lueboonthavatchai,2 Raviwan Nivataphand,2 Nattaporn Apisiridej,3 Donruedee Petchsuwan,3 Nattha Saisavoey,4 Kamonporn Wannarit,4 Ruk Ruktrakul,5 Thawanrat Srichan,5 Sirina Satthapisit,6 Daochompu Nakawiro,7 Thanita Hiranyatheb,7 Anakevich Temboonkiat,8 Namtip Tubtimtong,9 Sukanya Rakkhajeekul,9 Boonsanong Wongtanoi,10 Sitthinant Tanchakvaranont,11 Putipong Bookkamana121Faculty of Medicine, Chiang Mai University, Chiang Mai, 2Faculty of Medicine, Chulalongkorn University, Bangkok, 3Trang Hospital, Trang, 4Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, 5Lampang Hospital, Lampang, 6KhonKaen Hospital, Khon Kaen, 7Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, 8Phramongkutklao Hospital, Bangkok, 9Faculty of Medicine Naresuan University, Pitsanulok, 10Srisangwal Hospital, Mae Hong Son, 11Queen Savang Vadhana Memorial Hospital, Chonburi, 12Faculty of Science, Chiang Mai University, Chiang Mai Kingdom of ThailandBackground: The Thai Study of Affective Disorders was a tertiary hospital-based cohort study developed to identify treatment outcomes among depressed patients and the variables involved. In this study, we examined the baseline characteristics of these depressed patients.Methods: Patients were investigated at eleven psychiatric outpatient clinics at tertiary hospitals for the presence of unipolar depressive disorders, as diagnosed by the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. The severity of any depression found was measured using the Clinical Global Impression and 17-item Hamilton Depression Rating Scale (HAMD clinician-rated tools, with the Thai Depression Inventory (a self-rated instrument administered alongside them. Sociodemographic and psychosocial variables were collected, and quality of life was also captured using the health-related quality of life (SF-36v2

  20. Risk. Impact of having a first-degree relative with affective disorder

    DEFF Research Database (Denmark)

    Vinberg, Maj

    2016-01-01

    This study investigated a high-risk sample in order to elucidate risk factors for affective disorder. Healthy monozygotic (MZ) and dizygotic (DZ) twins with and without a co-twin with a history of affective disorder were identified through nationwide registers. Two risk groups were identified......: the high-risk group comprised twins at risk of developing affective disorder (DZ or MZ twin; index co-twin affected); the low risk group (control group) comprised twins at low risk of developing affective disorder (DZ or MZ twin; index co-twin not affected). At baseline 234 participants were divided...... into groups according to their risk for affective disorder; they were followed up at 6-month intervals with posted questionnaires assessing depression. After a mean follow-up period of 7 years, the participants were invited to participate in an individual interview. A total of 36 participants (31 high...

  1. Allostatic load in parents of children with developmental disorders: moderating influence of positive affect.

    Science.gov (United States)

    Song, Jieun; Mailick, Marsha R; Ryff, Carol D; Coe, Christopher L; Greenberg, Jan S; Hong, Jinkuk

    2014-02-01

    This study examines whether parents of children with developmental disorders are at risk of elevated allostatic load relative to control parents and whether positive affect moderates difference in risk. In all, 38 parents of children with developmental disorders and 38 matched comparison parents were analyzed. Regression analyses revealed a significant interaction between parent status and positive affect: parents of children with developmental disorders had lower allostatic load when they had higher positive affect, whereas no such association was evident for comparison parents. The findings suggest that promoting greater positive affect may lower health risks among parents of children with developmental disorders.

  2. Bipolar disorder dynamics: affective instabilities, relaxation oscillations and noise

    Science.gov (United States)

    Geddes, John R.; Goodwin, Guy M.; Holmes, Emily A.

    2015-01-01

    Bipolar disorder is a chronic, recurrent mental illness characterized by extreme episodes of depressed and manic mood, interspersed with less severe but highly variable mood fluctuations. Here, we develop a novel mathematical approach for exploring the dynamics of bipolar disorder. We investigate how the dynamics of subjective experience of mood in bipolar disorder can be understood using a relaxation oscillator (RO) framework and test the model against mood time-series fluctuations from a set of individuals with bipolar disorder. We show that variable mood fluctuations in individuals diagnosed with bipolar disorder can be driven by the coupled effects of deterministic dynamics (captured by ROs) and noise. Using a statistical likelihood-based approach, we show that, in general, mood dynamics are described by two independent ROs with differing levels of endogenous variability among individuals. We suggest that this sort of nonlinear approach to bipolar disorder has neurobiological, cognitive and clinical implications for understanding this mental illness through a mechacognitive framework. PMID:26577592

  3. [Cortical Release Signs in Patients with Schizophrenia, Depressive Disorders, and Bipolar Affective Disorder].

    Science.gov (United States)

    de la Espriella, Ricardo Andrés; Hernández, José Fernando; Espejo, Lina María

    2013-12-01

    Determining the presence of cortical release signs associated with white matter damage, is a clinically easy method to perform. The objective of this study is to determine the presence of cortical release signs in patients with mental illnesses and cerebrovascular disease, as well as its clinical usefulness, given that it indicates cortical damage. A review was made of cortical release signs in patients hospitalized in clinical psychiatry and general hospitals with bipolar affective disorder (40), depression (37), schizophrenia (33), cardiovascular disease (33) and dementia (37). The signs of cortical release do not have the same importance as cortical damage. For example, the glabellar reflex was found in all the groups, that of paratonia, particularly in the group with schizophrenia, and others signs in the group of patients with dementia. It is suggested that these signs imply subcortical white matter damage. The appearance of these signs shows the need for a follow up of patients diagnosed with bipolar affective disorder, depression and schizophrenia. Copyright © 2013 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

  4. Early-adult outcome of child and adolescent mental disorders as evidenced by a national-based case register survey

    DEFF Research Database (Denmark)

    Castagnini, Augusto; Foldager, Leslie; Caffo, Ernesto

    2016-01-01

    groups at 6–16 years and exhibited a characteristic male preponderance; while affective, eating, neurotic, stress-related and adjustment disorders were more common in girls. Over a mean follow-up period of 10.1 years, 1666 (27.6%) cases, mean age 23.4 years, were referred for treatment to mental health...... selected all those (n = 6043) who were enrolled for the first time in the Danish Psychiatric Register with an ICD-10 F00–99 diagnosis in 1995–1997, and identified any mental disorder for which they received treatment up to 2009. Results Neurodevelopmental and conduct disorders were the principal diagnostic...... services, and they had a markedly higher risk than the general population (RR 5.1; 95% CI 4.9–5.4). Affective, eating, neurodevelopmental, obsessive–compulsive and psychotic disorders had the strongest continuity. Heterotypic transitions were observed for affective, eating, neurodevelopmental, personality...

  5. Hypothyroidism and Bipolar Affective Disorder: Is There a Connection?

    OpenAIRE

    Menon, Bindu

    2014-01-01

    Context: Hypothalamic-pituitary-thyroid axis dysfunction in the pathophysiology of bipolar disorder has received less attention as compared with that in depressive disorder. Aims: To study the prevalence of hypothyroidism in patients diagnosed with bipolar disorder and compare it with a population norm. Settings and Design: The setting was the psychiatry inpatient unit of a tertiary care hospital. The design was retrospective and observational. Subjects and Methods: A retrospective observatio...

  6. Disorder affects judgements about a neighbourhood: police presence does not

    Directory of Open Access Journals (Sweden)

    Jessica Hill

    2014-03-01

    Full Text Available Many police forces operate a policy of high visibility in disordered neighbourhoods with high crime. However, little is known about whether increased police presence influences people’s beliefs about a neighbourhood’s social environment or their fear of crime. Three experimental studies compared people’s perceptions of social capital and fear of crime in disordered and ordered neighbourhoods, either with a police presence or no police presence. In all studies, neighbourhood disorder lowered perceptions of social capital, resulting in a higher fear of crime. Police presence or absence had no significant effect. The pervasive effects of disorder above other environmental cues are discussed.

  7. Platelet serotonergic functions and light therapy in seasonal affective disorder.

    Science.gov (United States)

    Stain-Malmgren, R; Kjellman, B F; Aberg-Wistedt, A

    1998-05-08

    We investigated platelet 14C-serotonin uptake and platelet [3H]LSD and [3H]paroxetine binding in 11 patients with seasonal affective disorder (SAD). Patients were reinvestigated after light therapy, applied at 07.00-09.00 h for 10 consecutive days. The degree of depression was rated before and after light therapy using the Comprehensive Psychopathological Rating Scale (CPRS). Baseline data in patients were compared with data from a control group consisting of 11 age- and sex-matched healthy volunteers. Seven patients responded to light therapy with a > 50% reduction in CPRS scores. In non-responders, the reduction in CPRS was 24.7 +/- 5.5%. There was a significant inverse correlation (P = 0.014) between Km for platelet 14C-serotonin uptake and CPRS scores. Patients had significantly higher Bmax for platelet [3H]LSD binding (P = 0.04) and significantly lower Bmax for platelet [3H]paroxetine binding (P = 0.016). There was a strong, multiple correlation between Bmax for [3H]LSD, as the dependent variable, and Km, Vmax and Bmax for [3H]paroxetine binding in patients (P < 0.0001) but not in controls. Responders to light therapy had significantly higher Km (P = 0.023) and significantly lower Bmax for [3H]paroxetine binding (P = 0.028) than non-responders. Bmax for [3H]paroxetine binding increased significantly to normal levels after light therapy. The results indicate that SAD is associated with aberrations in the serotonin uptake mechanism. The enhanced 5-HT2-receptor density may reflect a consequential up-regulation.

  8. Delayed sleep phase syndrome is related to seasonal affective disorder.

    Science.gov (United States)

    Lee, Heon-Jeong; Rex, Katharine M; Nievergelt, Caroline M; Kelsoe, John R; Kripke, Daniel F

    2011-10-01

    Both delayed sleep phase syndrome (DSPS) and seasonal affective disorder (SAD) may manifest similar delayed circadian phase problems. However, the relationships and co-morbidity between the two conditions have not been fully studied. The authors examined the comorbidity between DSPS and SAD. We recruited a case series of 327 DSPS and 331 controls with normal sleep, roughly matched for age, gender, and ancestry. Both DSPS and controls completed extensive questionnaires about sleep, the morningness-eveningness trait, depression, mania, seasonality of symptoms, etc. The prevalences of SAD and subsyndromal SAD (S-SAD) were higher in DSPS compared to controls (χ(2)=12.65, p=0.002). DSPS were 3.3 times more likely to report SAD (odds ratio, 3.34; 95% CI, 1.41-7.93) compared to controls as defined by the Seasonal Pattern Assessment Questionnaire (SPAQ). Correspondingly, DSPS showed significantly higher seasonality scores compared to controls in mood, appetite, and energy level subscores and the global seasonality score (t=3.12, t=0.002; t=2.04, p=0.041; t=2.64, p=0.008; and t=2.15, p=0.032, respectively). Weight fluctuation during seasons and winter-summer sleep length differences were also significantly higher in DSPS than controls (t=5.16, pseasonal subjects regardless of whether they were DSPS or controls. These cases suggested that DSPS is partially comorbid with SAD. These data support the hypothesis that DSPS and SAD may share a pathophysiological mechanism causing delayed circadian phase. Copyright © 2011 Elsevier B.V. All rights reserved.

  9. Cyclothymia reloaded: A reappraisal of the most misconceived affective disorder.

    Science.gov (United States)

    Perugi, Giulio; Hantouche, Elie; Vannucchi, Giulia; Pinto, Olavo

    2015-09-01

    Data emerging from both academic centers and from public and private outpatient facilities indicate that from 20% to 50% of all subjects that seek help for mood, anxiety, impulsive and addictive disorders turn out, after careful screening, to be affected by cyclothymia. The proportion of patients who can be classified as cyclothymic rises significantly if the diagnostic rules proposed by the DSM-5 are reconsidered and a broader approach is adopted. Unlike the DSM-5 definition based on the recurrence of low-grade hypomanic and depressive symptoms, cyclothymia is best identified as an exaggeration of cyclothymic temperament (basic mood and emotional instability) with early onset and extreme mood reactivity linked with interpersonal and separation sensitivity, frequent mixed features during depressive states, the dark side of hypomanic symptoms, multiple comorbidities, and a high risk of impulsive and suicidal behavior. Epidemiological and clinical research have shown the high prevalence of cyclothymia and the validity of the concept that it should be seen as a distinct form of bipolarity, not simply as a softer form. Misdiagnosis and consequent mistreatment are associated with a high risk of transforming cyclothymia into severe complex borderline-like bipolarity, especially with chronic and repetitive exposure to antidepressants and sedatives. The early detection and treatment of cyclothymia can guarantee a significant change in the long-term prognosis, when appropriate mood-stabilizing pharmacotherapy and specific psychological approaches and psychoeducation are adopted. The authors present and discuss clinical research in the field and their own expertise in the understanding and medical management of cyclothymia and its complex comorbidities. Copyright © 2015 Elsevier B.V. All rights reserved.

  10. Major affective disorders in chronic obstructive pulmonary disease compared with other chronic respiratory diseases.

    Science.gov (United States)

    Pothirat, Chaicharn; Chaiwong, Warawut; Phetsuk, Nittaya; Pisalthanapuna, Sangnual; Chetsadaphan, Nonglak; Inchai, Juthamas

    2015-01-01

    Chronic obstructive pulmonary disease (COPD) and other chronic respiratory diseases (CRDs) have significant impacts on quality of life including psychomotor domain. To evaluate three major affective disorders in subjects with COPD compared with other CRDs and nonill population. The Thai version of Mini International Neuropsychiatric Interview (MINI) was used as a diagnostic instrument for three major affective disorders (generalized anxiety disorder, major depressive disorder, and panic disorder) by face-to-face interview in assessing patients with CRDs [COPD, asthma, rhinasthma, all asthma (asthma and rhinasthma), and chronic rhinitis], and nonill subjects. Logistic regression analyses were used to determine the relation between major affective disorders and CRDs adjusting for age, sex, and disease severity. Major affective disorders were more prevalent in CRDs than nonill groups (adjusted OR =2.6 [95% CI, 1.8-3.9], Pdisorder (adjusted OR =4.0 [95% CI, 1.4-11.9], P=0.011, and 4.4 [95% CI, 1.1-18.1], P=0.038, respectively) but not major depressive disorder (adjusted OR =2.7 [95% CI, 0.8-9.0, P=0.105]) than nonill group. Comparing with all asthma, COPD patients had lower occurrence of major depressive and panic disorders (adjusted OR =0.1 [95% CI, 0.0-0.4], P=0.002, and 0.1 [95% CI, 0.0-0.9], P=0.043, respectively). There was no difference in major mood disorders in COPD, rhinasthma, and chronic rhinitis patients. Major affective disorders were not increased by disease severity in COPD. Major affective disorders were significantly higher in CRDs than nonill population. Generalized anxiety and panic disorders were significantly high in COPD patients. Moreover, major depressive and panic disorders in COPD were significantly lower than all asthma. The prevalence of major affective disorders may not be related to severity of COPD.

  11. Long-lasting effects of affective disorders and childhood trauma on dispositional optimism

    NARCIS (Netherlands)

    Broekhof, Rosalie; Rius-Ottenheim, Nathaly; Spinhoven, Philip; van der Mast, Roos C.; Penninx, Brenda W. J. H.; Zitman, Frans G.; Giltay, Erik J.

    2015-01-01

    Background: Dispositional optimism, a personality trait characterized by generalized positive expectations towards the future, is thought to remain rather stable over time. It is however largely unknown to what extent affective disorders and its risk factors affect dispositional optimism. Methods:

  12. Risk. Impact of having a first-degree relative with affective disorder

    DEFF Research Database (Denmark)

    Vinberg, Maj

    2016-01-01

    : the high-risk group comprised twins at risk of developing affective disorder (DZ or MZ twin; index co-twin affected); the low risk group (control group) comprised twins at low risk of developing affective disorder (DZ or MZ twin; index co-twin not affected). At baseline 234 participants were divided...... enhanced risk and thus accelerate the onset of illness. Low-risk individuals seem to experience fewer life events and may exhibit resilience to their adverse psychological effects. Overall, having a 1st-degree relative with affective disorder matters. This thesis demonstrates that high-risk studies...

  13. Subclinical psychopathology and socio-economic status in unaffected twins discordant for affective disorder

    DEFF Research Database (Denmark)

    Vinberg Christensen, Maj; Kyvik, Kirsten Ohm; Vedel Kessing, Lars

    2006-01-01

    .g.: a study of the healthy relatives of patients with affective disorders. AIM: To compare psychopathology and socio-economic status between twins with a co-twin history of affective disorder and twins without. METHODS: In a cross-sectional high-risk case-control study, healthy monozygotic and dizygotic twins...... to affective disorder seem to present lower socio-economic status, higher rates of subclinical affective symptoms and more often experience a minor psychiatric diagnosis than twins with no familial history of affective disorder. It is not possible from the present cross-sectional data to determine...... the causality of these findings, thus genetic liability to affective disorder, socio-economic status and minor psychopathology seem to have a complex interrelation....

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

    Science.gov (United States)

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

    2013-03-26

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

  15. Melatonin and agomelatine for preventing seasonal affective disorder.

    Science.gov (United States)

    Kaminski-Hartenthaler, Angela; Nussbaumer, Barbara; Forneris, Catherine A; Morgan, Laura C; Gaynes, Bradley N; Sonis, Jeffrey H; Greenblatt, Amy; Wipplinger, Jörg; Lux, Linda J; Winkler, Dietmar; Van Noord, Megan G; Hofmann, Julia; Gartlehner, Gerald

    2015-11-11

    Seasonal affective disorder (SAD) is a seasonal pattern of recurrent major depressive episodes that most commonly occurs during autumn or winter and remits in spring. The prevalence of SAD in the United States ranges from 1.5% to 9%, depending on latitude. The predictable seasonal aspect of SAD provides a promising opportunity for prevention. This is one of four reviews on the efficacy and safety of interventions to prevent SAD; we focus on agomelatine and melatonin as preventive interventions. To assess the efficacy and safety of agomelatine and melatonin (in comparison with each other, placebo, second-generation antidepressants, light therapy, psychological therapy or lifestyle interventions) in preventing SAD and improving patient-centred outcomes among adults with a history of SAD. We conducted a search of the Specialised Register of the Cochrane Depression, Anxiety and Neurosis Review Group (CCDANCTR) to 11 August 2015. The CCDANCTR contains reports of relevant randomised controlled trials from EMBASE (1974 to date), MEDLINE (1950 to date), PsycINFO (1967 to date) and the Cochrane Central Register of Controlled Trials (CENTRAL). Furthermore, we searched the Cumulative Index to Nursing and Allied Health Literature (CINAHL), Web of Knowledge, The Cochrane Library and the Allied and Complementary Medicine Database (AMED) (to 26 May 2014). We conducted a grey literature search (e.g. in clinical trial registries) and handsearched the reference lists of all included studies and pertinent review articles. To examine efficacy, we planned to include randomised controlled trials (RCTs) on adults with a history of winter-type SAD who were free of symptoms at the beginning of the study. To examine adverse events, we intended to include non-randomised studies. We planned to include studies that compared agomelatine versus melatonin, or agomelatine or melatonin versus placebo, any second-generation antidepressant (SGA), light therapy, psychological therapies or lifestyle

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

    Science.gov (United States)

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

    2013-09-01

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

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

    Directory of Open Access Journals (Sweden)

    Celine eSouchay

    2013-12-01

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

  18. DSM-III-R SCHIZOTYPAL PERSONALITY TRAITS IN OFFSPRING OF SCHIZOPHRENIC DISORDER, AFFECTIVE DISORDER, AND NORMAL CONTROL PARENTS

    Science.gov (United States)

    Squires-Wheeler, Elizabeth; Skodol, Andrew E.; Bassett, Anne; Erlenmeyer-Kimling, L.

    2011-01-01

    Summary The aggregation of disorder in families identified by a schizophrenic disorder proband (index case) has provided indirect clues to the question of diagnostic boundaries of schizophrenic spectrum categories. The Danish Adoption Studies provided quasi-experimental evidence for the range of expression of a putative schizophrenic spectrum disorder which was subsequently denoted schizotypal personality disorder (STPD) in DSM-III-R. It has been hypothesized that such schizophrenic spectrum categories bear a genetic relationship to schizophrenic disorder and thus are continuous with schizophrenia in terms of etiology and pathogenesis. For meaningful use of such spectrum categories in genetic analyses, e.g., linkage analysis, it is important that rates of spectrum traits and disorder in normal control and in psychiatric control populations are known. The rate of DSM-III-R schizotypal traits and disorder was assessed in three offspring groups (ages 18–29) defined by parental diagnoses, including schizophrenic disorder (N = 90), affective disorder (N = 79), and no parental disorder (N = 161). The assessment was conducted by trained social workers and psychologists by means of a direct interview (Personality Disorder Examination). The interviewers were blind to the parental status and to previous psychiatric assessments of these offspring. The rates of three, four and five schizotypal features were elevated in the offspring with parental psychiatric disorder in contrast to the offspring with no parental psychiatric disorder. However, the rates between the offspring of the schizophrenic disorder parental group and the offspring of the affective disorder parental group did not differ significantly, thus failing to support the assumption of diagnostic specificity. PMID:2635220

  19. Qui non proficit, deficit: experimental models for 'integrative' research of affective disorders.

    Science.gov (United States)

    LaPorte, Justin L; Egan, Rupert J; Hart, Peter C; Bergner, Carisa L; Cachat, Jonathan M; Canavello, Peter R; Kalueff, Allan V

    2010-02-01

    Experimental models are an important tool for the study of biological mechanisms of psychiatric disorders. Although encouraging progress has been made in biological psychiatry of affective disorders, there remain numerous methodological, conceptual, and translational challenges in this field. Mounting clinical data support the view that psychiatric disorders as spectra, rather than as discrete or isolated illnesses. This requires new theories as well as new animal paradigms for "integrative" modeling of psychiatric disorders and their spectra. Here we discuss recent "integrative" experimental models and concepts that promise to advance translational research of affective disorders. 2009 Elsevier B.V. All rights reserved.

  20. Assisted reproduction and child neurodevelopmental outcomes

    DEFF Research Database (Denmark)

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

    2013-01-01

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

  1. Chronotype and personality factors of predisposition to seasonal affective disorder.

    Science.gov (United States)

    Oginska, Halszka; Oginska-Bruchal, Katarzyna

    2014-05-01

    The study aimed to recognize the personality factors of a predisposition to seasonal mood fluctuations in a non-clinical sample. A group of 101 subjects (57 women, 44 men; mean age 26.4 ± 6.5 years) completed a battery of tests comprising a Seasonal Pattern Assessment Questionnaire (SPAQ), Chronotype Questionnaire (ChQ), a NEO-Five Factor Inventory and a Coping Inventory for Stressful Situations (CISS). A smaller sample (n = 44) completed a Winter Blues Scale (WBS). Women scored significantly higher than men in seasonality (p = 0.014), neuroticism (p = 0.049), agreeableness (p = 0.010), and avoidance-oriented coping style (p = 0.041). Subjects with seasonal affective disorder (SAD) (n = 41) or sub-SAD (n = 33), as diagnosed with SPAQ, exhibited higher levels of neuroticism (p = 0.017) and openness (p = 0.016) in comparison to non-SAD individuals. The latter declared a less frequent avoidance coping style. Both measures of seasonality, i.e. the SPAQ Global Seasonality Score and WBS, correlated significantly (r = 0.28 and 0.44, respectively) with the subjective amplitude of the circadian rhythm, as described with the "distinctness" scale of ChQ. Female gender, neuroticism and openness were confirmed as factors linked to seasonal mood variability. Additionally, the study revealed an association between susceptibility to mild winter depression and an avoidance-oriented coping style. The avoidance coping style was correlated positively with all the aspects of seasonality described by SPAQ (correlation coefficients from 0.21 to 0.34). Both sub-types of avoidance-oriented style, i.e. distraction and social diversion, were associated with marked subjective seasonal changes in sleep length, mood and the energy level. While the subjective amplitude of circadian rhythm proved to be connected with seasonality, the subjective acrophase of the rhythm (morningness-eveningness preference) did not. It may be hypothesized that sensitivity

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

    Science.gov (United States)

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

    2015-01-01

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

  3. Disordered eating behavior and obsessive compulsive symptoms in college students: cognitive and affective similarities.

    Science.gov (United States)

    Humphreys, Joy D; Clopton, James R; Reich, Darcy A

    2007-01-01

    Few studies have examined the psychological similarities between disordered eating behavior and obsessive-compulsive (OC) symptoms. The present study examined relationships among disordered eating, OC symptoms, and three cognitive and affective variables (perfectionism, obsessive beliefs, and negative affect). The cognitive and affective variables were significantly associated with disordered eating and with OC symptoms in a sample of 160 college women. Results also indicated that perfectionism is an important link between disordered eating behavior and OC symptoms, although the nature of perfectionism differs somewhat for the two types of behavior. Implications of the current results and directions for future research are discussed.

  4. Impaired Neurocognitive Functions Affect Social Learning Processes in Oppositional Defiant Disorder and Conduct Disorder: Implications for Intervention

    NARCIS (Netherlands)

    Matthys, W.C.H.J.; Vanderschuren, L.J.M.J.; Schutter, D.J.L.G.; Lochman, J.E.

    2012-01-01

    In this review, a conceptualization of oppositional defiant (ODD) and conduct disorder (CD) is presented according to which social learning processes in these disorders are affected by neurocognitive dysfunctions. Neurobiological studies in ODD and CD suggest that the ability to make associations

  5. Female hormones affect symptom severity in obsessive-compulsive disorder

    NARCIS (Netherlands)

    Vulink, Nienke C. C.; Denys, Damiaan; Bus, Léonie; Westenberg, Herman G. M.

    2006-01-01

    There is circumstantial evidence that reproductive events can influence symptom severity of obsessive-compulsive disorder (OCD). We sent self-report questionnaires to 350 female outpatients with OCD to examine the relationship between the menstrual cycle, pregnancy, menopause, hormonal

  6. Reproductive Affective Disorders: a Review of the Genetic Evidence for Premenstrual Dysphoric Disorder and Postpartum Depression.

    Science.gov (United States)

    McEvoy, Katherine; Osborne, Lauren M; Nanavati, Julie; Payne, Jennifer L

    2017-10-30

    The purpose of this study is to review and summarize the literature exploring the genetic basis for premenstrual dysphoric disorder (PMDD) and postpartum depression (PPD). There is more evidence for a genetic basis for PPD than for PMDD, but only when PPD is defined as beginning in the immediate postpartum time period. Familial, genome-wide linkage and association studies, and candidate gene studies, most in the past 10 years, have examined the genetic etiology of reproductive affective disorders, including PMDD and PPD. The most commonly studied genes include SERT, COMT, MAOA, BDNF, and ESR1 and 2. This qualitative review of the recent literature finds limited evidence so far for the genetic basis for PMDD, with both familial and candidate gene studies having negative or conflicting results. Evidence is stronger for the genetic basis for PPD, with positive associations found in family studies and in several genes associated with major depression as well as genes involved in estrogen signaling but only when PPD onset is shortly after delivery. Epigenetic biomarkers on genes responsive to estrogen have also been found to predict PPD. Our findings underscore the need for additional studies with larger samples, as well as the crucial importance of timing in the definition of PPD for genetic studies.

  7. Deficits in Degraded Facial Affect Labeling in Schizophrenia and Borderline Personality Disorder

    NARCIS (Netherlands)

    van Dijke, Annemiek; van 't Wout, Mascha; Ford, Julian D.; Aleman, Andre

    2016-01-01

    Although deficits in facial affect processing have been reported in schizophrenia as well as in borderline personality disorder (BPD), these disorders have not yet been directly compared on facial affect labeling. Using degraded stimuli portraying neutral, angry, fearful and angry facial

  8. Reliability of clinical ICD-10 diagnoses among electroconvulsive therapy patients with chronic affective disorders

    DEFF Research Database (Denmark)

    Jakobsen, Klaus Damgaard; Hansen, Thomas Folkmann; Dam, Henrik

    2008-01-01

    Background and Objectives: Diagnostic reliability is of major concern both to clinicians and researchers. The aim has been to investigate the trustworthiness of clinical ICD-10 affective disorder diagnoses for research purpose. Methods: 150 ECT patients with chronic affective disorders were inves...

  9. Effect of affect on social cost bias in social anxiety disorder

    NARCIS (Netherlands)

    Bitran, S.; Hofmann, S.G.

    2010-01-01

    The cognitive model of social anxiety disorder (SAD) assumes that cognitive biases are important maintaining factors of the disorder. Research and theory have highlighted the impact of cognitive self-regulatory processes on affect, but have not sufficiently focused on the influence of affect on

  10. Variations in 5-HTTLPR: relation to familiar risk of affective disorder, life events, neuroticism and cortisol

    DEFF Research Database (Denmark)

    Vinberg, Maj; Mellerup, Erling; Andersen, Per Kragh

    2009-01-01

    BACKGROUND: Variations in the serotonin transporter gene (5-HTTLPR) and stressful life events are associated with affective disorders. AIM: To investigate whether the distribution of the alleles of the 5-HTTLPR is associated with a genetic predisposition to affective disorder and whether...

  11. Support for a bipolar affective disorder susceptibility locus on chromosome 12q24.3

    DEFF Research Database (Denmark)

    Buttenschøn, Henriette Nørmølle; Foldager, Leslie; Zacharov, Tracey Flint

    2010-01-01

    Linkage and association studies of bipolar affective disorder (BAD) point out chromosome 12q24 as a region of interest.......Linkage and association studies of bipolar affective disorder (BAD) point out chromosome 12q24 as a region of interest....

  12. The dopamine D3 receptor gene: no association with bipolar affective disorder.

    OpenAIRE

    Shaikh, S; Ball, D; Craddock, N; Castle, D; Hunt, N; Mant, R; Owen, M; Collier, D; Gill, M

    1993-01-01

    Bipolar affective disorder and schizophrenia share many clinical and genetic characteristics, and are thought by some to be different expressions of the same underlying disorder. A recent study showed an excess of homozygosity at a BalI polymorphism in the dopamine D3 receptor gene in schizophrenic patients compared with controls, from two independent centres. We have found no evidence of such an excess in a comparable sample of patients with bipolar affective disorder compared with matched c...

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

    Science.gov (United States)

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

    2017-01-01

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

  14. Childhood traumatization by primary caretaker and affect dysregulation in patients with borderline personality disorder and somatoform disorder

    Directory of Open Access Journals (Sweden)

    Annemiek van Dijke

    2011-03-01

    Full Text Available Affect regulation is often compromised as a result of early life interpersonal traumatization and disruption in caregiving relationships like in situations where the caretaker is emotionally, sexually or physically abusing the child. Prior studies suggest a clear relationship between early childhood attachment-related psychological trauma and affect dysregulation. We evaluated the relationship of retrospectively recalled childhood traumatization by primary caretaker(s (TPC and affect dysregulation in 472 adult psychiatric patients diagnosed with borderline personality disorder (BPD, somatoform disorder (SoD, both BPD and SoD, or disorders other than BPD or SoD, using the Bermond-Vorst Alexithymia Questionnaire, the self-report version of the Structured Interview for Disorders of Extreme Stress, the Self-rating Inventory for Posttraumatic Stress Disorder (SRIP and the Traumatic Experiences Checklist. Almost two-thirds of participants reported having experienced childhood TPC, ranging from approximately 50% of patients with SoD or other psychiatric disorders to more than 75% of patients with comorbid BPD + SoD. Underregulation of affect was associated with emotional TPC and TPC occurring in developmental epoch 0–6 years. Over-regulation of affect was associated with physical TPC. Childhood trauma by a primary caretaker is prevalent among psychiatric patients, particularly those with BPD, and differentially associated with underand over-regulation of affect depending on the type of traumatic exposure.For the abstract or full text in other languages, please see Supplementary files under Reading Tools online

  15. Autism as a neurodevelopmental disorder affecting communication and learning in early childhood: prenatal origins, post-natal course and effective educational support.

    Science.gov (United States)

    Trevarthen, C

    2000-01-01

    Colwyn Trevarthen, working on autism, discussed the importance of time, rhythm and temporal processing in brain function. The brains of new born infants show highly coherent and coordinated patterns of activity over time, and their rhythms are remarkably similar to those of adults. Since the cortex has not yet developed, this coordination must be subcortical in origin. The likely source is the emotional motor system. He noted that the cerebellum might regulate the intricate timing of the development and expression of emotional communication. He also pointed out that emotional and motivational factors have often been seriously neglected in psychology (largely owing to a misplaced focus on 'cognition' as some isolated entity) and emphasized the potential importance of empathetic support and music therapy in helping autistic children. Copyright 2000 Harcourt Publishers Ltd.

  16. Neuronal migration and its disorders affecting the CA3 region

    Directory of Open Access Journals (Sweden)

    Richard eBelvindrah

    2014-03-01

    Full Text Available In this review, we focus on CA3 neuronal migration disorders in the rodent. We begin by introducing the main steps of hippocampal development, and we summarize characteristic hippocampal malformations in human. We then describe various mouse mutants showing structural hippocampal defects. Notably, genes identified in human cortical neuronal migration disorders consistently give rise to a CA3 phenotype when mutated in the mouse. We successively describe their molecular, physiological and behavioral phenotypes that together contribute to a better understanding of CA3-dependent functions. We finally discuss potential factors underlying the CA3 vulnerability revealed by these mouse mutants and that may also contribute to other human neurological and psychiatric disorders.

  17. Networks of neuronal genes affected by common and rare variants in autism spectrum disorders.

    Directory of Open Access Journals (Sweden)

    Eyal Ben-David

    Full Text Available Autism spectrum disorders (ASD are neurodevelopmental disorders with phenotypic and genetic heterogeneity. Recent studies have reported rare and de novo mutations in ASD, but the allelic architecture of ASD remains unclear. To assess the role of common and rare variations in ASD, we constructed a gene co-expression network based on a widespread survey of gene expression in the human brain. We identified modules associated with specific cell types and processes. By integrating known rare mutations and the results of an ASD genome-wide association study (GWAS, we identified two neuronal modules that are perturbed by both rare and common variations. These modules contain highly connected genes that are involved in synaptic and neuronal plasticity and that are expressed in areas associated with learning and memory and sensory perception. The enrichment of common risk variants was replicated in two additional samples which include both simplex and multiplex families. An analysis of the combined contribution of common variants in the neuronal modules revealed a polygenic component to the risk of ASD. The results of this study point toward contribution of minor and major perturbations in the two sub-networks of neuronal genes to ASD risk.

  18. No association between serum cholesterol and death by suicide in patients with schizophrenia, bipolar affective disorder, or major depressive disorder.

    Science.gov (United States)

    Park, Subin; Yi, Ki Kyoung; Na, Riji; Lim, Ahyoung; Hong, Jin Pyo

    2013-12-05

    Previous research on serum total cholesterol and suicidality has yielded conflicting results. Several studies have reported a link between low serum total cholesterol and suicidality, whereas others have failed to replicate these findings, particularly in patients with major affective disorders. These discordant findings may reflect the fact that studies often do not distinguish between patients with bipolar and unipolar depression; moreover, definitions and classification schemes for suicide attempts in the literature vary widely. Subjects were patients with one of the three major psychiatric disorders commonly associated with suicide: schizophrenia, bipolar affective disorder, and major depressive disorder (MDD). We compared serum lipid levels in patients who died by suicide (82 schizophrenia, 23 bipolar affective disorder, and 67 MDD) and non-suicide controls (200 schizophrenia, 49 bipolar affective disorder, and 175 MDD). Serum lipid profiles did not differ between patients who died by suicide and control patients in any diagnostic group. Our results do not support the use of biological indicators such as serum total cholesterol to predict suicide risk among patients with a major psychiatric disorder.

  19. Diabulimia: how eating disorders can affect adolescents with diabetes.

    Science.gov (United States)

    Davidson, Jennifer

    2014-09-16

    Adherence to self-management and medication regimens is required to achieve optimal blood glucose control in adolescents with type 1 diabetes mellitus. Non-adherence places adolescents at serious risk of short and long-term health complications. Adherence difficulties may be exacerbated by concurrent eating disorders. Diabulimia is a term used to describe the deliberate administration of insufficient insulin to maintain glycaemic control for the purpose of causing weight loss. This article explores the concept of diabulimia and the compounding complications of an eating disorder on maintaining self-management regimens in adolescents with diabetes.

  20. Second-generation antidepressants for seasonal affective disorder.

    Science.gov (United States)

    Thaler, Kylie; Delivuk, Marlene; Chapman, Andrea; Gaynes, Bradley N; Kaminski, Angela; Gartlehner, Gerald

    2011-12-07

    Seasonal affective disorder (SAD) is a seasonal pattern of recurrent depressive episodes that is often treated with second-generation antidepressants (SGAs), light therapy or psychotherapy. To assess the efficacy and safety of SGAs for the treatment of SAD in adults in comparison with placebo, light therapy, other SGAs or psychotherapy. We searched the Cochrane Depression, Anxiety and Neuorosis Review Group's specialised register (CCDANCTR) on the 26 August 2011. The CCDANCTR contains reports of relevant randomised controlled trials from The Cochrane Library (all years), EMBASE (1974 to date), MEDLINE (1950 to date) and PsycINFO (1967 to date). In addition, we searched pharmaceutical industry trials registers via the Internet to identify unpublished trial data. Furthermore, we searched OVID MEDLINE, MEDLINE In-process, EMBASE and PsycINFO to 27July 2011 for publications on adverse effects (including non-randomised studies). For efficacy we included randomised trials of SGAs compared with other SGAs, placebo, light therapy or psychotherapy in adult participants with SAD. For adverse effects we also included non-randomised studies. Two review authors screened abstracts and full-text publications against the inclusion criteria. Data abstraction and risk of bias assessment were conducted by one reviewer and checked for accuracy and completeness by a second. We pooled data for meta-analysis where the participant groups were similar and the studies assessed the same treatments with the same comparator and had similar definitions of outcome measures over a similar duration of treatment. For efficacy we included three randomised trials of between five and eight weeks duration with a total of 204 participants. For adverse effects we included two randomised trials and three observational (non-randomised) studies of five to eight weeks duration with a total of 225 participants. Overall, the randomised trials had low-to-moderate risk of bias, and the observational studies had

  1. Affective cognition and its disruption in mood disorders

    OpenAIRE

    Elliott, Rebecca; Zahn, Roland; Deakin, J. F. William; Anderson, Ian M.

    2011-01-01

    In this review, we consider affective cognition, responses to emotional stimuli occurring in the context of cognitive evaluation. In particular, we discuss emotion categorization, biasing of memory and attention, as well as social/moral emotion. We discuss limited neuropsychological evidence suggesting that affective cognition depends critically on the amygdala, ventromedial frontal cortex, and the connections between them. We then consider neuroimaging studies of affective cognition in healt...

  2. Comparison of psychopathological dimensions between major depressive disorder and schizophrenia spectrum disorders focusing on language, affectivity and motor behavior.

    Science.gov (United States)

    Steinau, Sarah; Stegmayer, Katharina; Lang, Fabian U; Jäger, Markus; Strik, Werner; Walther, Sebastian

    2017-04-01

    This study tested whether patients with major depressive disorder (MDD) and schizophrenia spectrum disorders would differ in three dimensions of psychopathology (language, affectivity and motor behavior) as assessed by the Bern Psychopathology Scale (BPS) in a cohort of 58 patients with MDD and 146 patients with schizophrenia spectrum disorders. The overall estimation of severity of each of the three dimensions was rated on a seven-point Likert scale from severely inhibited to severely disinhibited. Here, more than half of the patients endorsed ratings that showed normal or mildly (dis-)inhibited behavior. At group level more pronounced negative ratings of affect were seen in MDD. Group comparisons of the severity ratings on language or motor behavior yielded no differences between schizophrenia spectrum disorders and MDD. At the individuals' levels, extreme ratings in the language and motor dimensions were more frequent in schizophrenia spectrum disorders and in the affectivity dimension more frequent in MDD. Shared psychopathological features could be seen across diagnoses, supporting a dimensional approach to psychopathology in endogenous psychoses. However, the groups differ in the severity of affect ratings as well as in the distribution of language, affectivity and motor ratings with more variance among the group of schizophrenia spectrum disorders. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

  3. Social-affective behaviour in autistic disorder: description and psychoeducational intervention

    OpenAIRE

    López Gómez, Santiago; García, Consuelo

    2010-01-01

    Autistic disorder refers to a neuropsychological disorder with serious and heterogeneous manifestations that include three main areas of development, namely: social and affective alterations, alterations in the linguistic and communicative behaviour and the presence of behavioural patterns, interests or restricted and stereotyped activities. The failure that affects the maintenance and development of social and affective bonds, characterized by social isolation and the presence of inadequate ...

  4. Community survey of attention-deficit/hyperactivity disorder among ...

    African Journals Online (AJOL)

    Background: Attention-deficit/hyperactivity disorder (ADHD) is a common childhood neuro-developmental condition with early onset. ADHD affects children worldwide. However, there is a variation in the prevalence across different countries. In Nigeria, there is paucity of information on the prevalence. To provide the ...

  5. Factors affecting the management of substance use disorders ...

    African Journals Online (AJOL)

    Findings of the study highlighted the need for adequate substance abuse management facilities to be put in the state. More professionals, especially psychiatrists and ... to ensure greater effectiveness of interventions. Keywords: Substance use disorders, Nigeria, Bayelsa State, barriers to drug treatment, treatment policy ...

  6. Disorder affects judgements about a neighbourhood: police presence does not

    NARCIS (Netherlands)

    Hill, J.; Pollet, T.V.; Nettle, D.

    2014-01-01

    Many police forces operate a policy of high visibility in disordered neighbourhoods with high crime. However, little is known about whether increased police presence influences people's beliefs about a neighbourhood's social environment or their fear of crime. Three experimental studies compared

  7. Automatic processing of facial affects in patients with borderline personality disorder: associations with symptomatology and comorbid disorders.

    Science.gov (United States)

    Donges, Uta-Susan; Dukalski, Bibiana; Kersting, Anette; Suslow, Thomas

    2015-01-01

    Instability of affects and interpersonal relations are important features of borderline personality disorder (BPD). Interpersonal problems of individuals suffering from BPD might develop based on abnormalities in the processing of facial affects and high sensitivity to negative affective expressions. The aims of the present study were to examine automatic evaluative shifts and latencies as a function of masked facial affects in patients with BPD compared to healthy individuals. As BPD comorbidity rates for mental and personality disorders are high, we investigated also the relationships of affective processing characteristics with specific borderline symptoms and comorbidity. Twenty-nine women with BPD and 38 healthy women participated in the study. The majority of patients suffered from additional Axis I disorders and/or additional personality disorders. In the priming experiment, angry, happy, neutral, or no facial expression was briefly presented (for 33 ms) and masked by neutral faces that had to be evaluated. Evaluative decisions and response latencies were registered. Borderline-typical symptomatology was assessed with the Borderline Symptom List. In the total sample, valence-congruent evaluative shifts and delays of evaluative decision due to facial affect were observed. No between-group differences were obtained for evaluative decisions and latencies. The presence of comorbid anxiety disorders was found to be positively correlated with evaluative shifting owing to masked happy primes, regardless of baseline-neutral or no facial expression condition. The presence of comorbid depressive disorder, paranoid personality disorder, and symptoms of social isolation and self-aggression were significantly correlated with response delay due to masked angry faces, regardless of baseline. In the present affective priming study, no abnormalities in the automatic recognition and processing of facial affects were observed in BPD patients compared to healthy individuals

  8. [Influence of consanguinity on clinical characteristics and affective disorders frequency in relatives of bipolar I patients].

    Science.gov (United States)

    Mechri, Anwar; Rouissi, Khadija; Mehdi, Boutheina; Khiari, Geneviève; Abdelhak, Sonia; Gaha, Lotfi

    2007-11-01

    The genetic transmission of bipolar disorder remained undetermined up to now, partly due to clinical and genetically heterogeneity. In Tunisia, genetic study will profit from the existence of high rates of consanguinity. To determine the rate of consanguinity in bipolar I disorders sample and to compare the clinical characteristics and the frequency of affective disorders in first and second degree relatives of probands with and without consanguinity. One hundred thirty subjects met DSM-IV criteria for a bipolar I disorder were recruited. Available Information was obtained from a structured clinical interview, collateral history and medical records. The family investigation allowed completion of genealogies over three generations. The comparison was based on the clinical characteristics (age of onset, numbers of affective episodes, nature and severity of the last affective episode) and the frequency of affective disorders in first and second degree relatives of probands with and without consanguinity. the rate of consanguinity was estimated to 28,5% It was higher in patients with family history of affective disorders : 34,2% versus 20,4% (p=0,08). Bipolar I patients with consanguinity were characterised by a high frequency of affective episodes and a more severe of the last affective episode, but theses differences were not significantly. However, the frequency of affective disorders was significantly increased in first degree relatives of probands with consanguinity: 10,5% versus 6,1% (p=0,01), and in first and second degree relatives of probands with consanguinity : 4,5% versus 29% (p=0,02). The influence of consanguinity on the clinical characteristics and the frequency of affective disorders in first and second degree relatives of bipolar patients is en favour the recessive polygenetic transmission of bipolar disorders.

  9. The effect of erythropoietin on cognition in affective disorders

    DEFF Research Database (Denmark)

    Ott, Caroline Vintergaard; Vinberg, Maj; Kessing, Lars V

    2016-01-01

    This is a secondary data analysis from our erythropoietin (EPO) trials. We examine (I) whether EPO improves speed of complex cognitive processing across bipolar and unipolar disorder, (II) if objective and subjective baseline cognitive impairment increases patients׳ chances of treatment......-efficacy and (III) if cognitive improvement correlates with better subjective cognitive function, quality of life and socio-occupational capacity. Patients with unipolar or bipolar disorder were randomized to eight weekly EPO (N=40) or saline (N=39) infusions. Cognition, mood, quality of life and socio......-occupational capacity were assessed at baseline (week 1), after treatment completion (week 9) and at follow-up (week 14). We used repeated measures analysis of covariance to investigate the effect of EPO on speed of complex cognitive processing. With logistic regression, we examined whether baseline cognitive...

  10. Brain Mechanisms of Affective Language Comprehension in Autism Spectrum Disorders

    Science.gov (United States)

    2015-10-01

    with Asperger syndrome and conduct disorder. Journal of Child Psychology and Psychiatry and Allied Disciplines, 43(5), 679–690. doi:10.1111/1469...social brain” during fearful face-processing in Asperger Syndrome. Neuropsychologia, 45(1), 2–14. doi:10.1016/j.neuropsychologia.2006.04.014 202...Wheelwright, S. (2004). The empathy quotient: an investigation of adults with Asperger syndrome or high functioning autism, and normal sex

  11. Winter is coming: nightmares and sleep problems during seasonal affective disorder.

    Science.gov (United States)

    Sandman, Nils; Merikanto, Ilona; Määttänen, Hanna; Valli, Katja; Kronholm, Erkki; Laatikainen, Tiina; Partonen, Timo; Paunio, Tiina

    2016-10-01

    Sleep problems, especially nightmares and insomnia, often accompany depression. This study investigated how nightmares, symptoms of insomnia, chronotype and sleep duration associate with seasonal affective disorder, a special form of depression. Additionally, it was noted how latitude, a proxy for photoperiod, and characteristics of the place of residence affect the prevalence of seasonal affective disorder and sleep problems. To study these questions, data from FINRISK 2012 study were used. FINRISK 2012 consists of a random population sample of Finnish adults aged 25-74 years (n = 4905) collected during winter from Finnish urban and rural areas spanning the latitudes of 60°N to 66°N. The Seasonal Pattern Assessment Questionnaire was used to assess symptoms of seasonal affective disorder. Participants with symptoms of seasonal affective disorder had significantly increased odds of experiencing frequent nightmares and symptoms of insomnia, and they were more often evening chronotypes. Associations between latitude, population size and urbanicity with seasonal affective disorder symptoms and sleep disturbances were generally not significant, although participants living in areas bordering urban centres had less sleep problems than participants from other regions. These data show that the prevalence of seasonal affective disorder was not affected by latitude. © 2016 The Authors. Journal of Sleep Research published by John Wiley & Sons Ltd on behalf of European Sleep Research Society.

  12. Affect regulation and psychopathology in women with borderline personality disorder

    DEFF Research Database (Denmark)

    Andersen, Rune; Timmerby, Nina; Simonsen, Erik

    2012-01-01

    subjects (n = 29) who reported psychopathology and levels of affective instability, aggression, impulsivity and alexithymia by self-report measures. RESULTS: Our results demonstrated that women with BPD have significant psychopathology and report significantly higher levels of dysfunction in separate...

  13. Marital adjustment of patients with substance dependence, schizophrenia and bipolar affective disorder

    Directory of Open Access Journals (Sweden)

    Shital S Muke

    2014-01-01

    Full Text Available Background: Marital adjustment is considered as a part of social well-being. Disturbed marital relationship can directly affect the disease adjustment and the way they face disease outcomes and complications. It may adversely affect physical health, mental health, the quality-of-life and even economic status of individuals. Aim: The aim of this study was to compare the marital adjustment among patients with substance dependence, schizophrenia and bipolar affective disorder. Materials and Methods: The sample consisted of each 30 patients with substance dependence, bipolar affective disorder and schizophrenia, diagnosed as per international classification of diseases-10 diagnostic criteria for research with a minimum duration of illness of 1 year were evaluated using marital adjustment questionnaire. The data was analyzed using parametric and non-parametric statistics. Results: Prevalence of poor marital adjustment in patients with schizophrenia, bipolar affective disorder and substance dependence was 60%, 70% and 50% respectively. There was a significant difference on overall marital adjustment among substance dependence and bipolar affective disorder patients. There was no significant difference on overall marital adjustment among patients with substance dependence and schizophrenia as well as among patients with schizophrenia and bipolar affective disorder. On marital adjustment domains, schizophrenia patients had significantly poor sexual adjustment than substance dependence patients while bipolar affective disorder patients had significantly poor sexual and social adjustment compared with substance dependence patients. Conclusion: Patients with substance dependence have significant better overall marital adjustment compared with bipolar affective disorder patients. Patients with substance dependence have significantly better social and sexual adjustment than patients with bipolar affective disorder as well as significantly better sexual

  14. Factors Affecting the Risk of Mental Disorders in Patients With Bipolar Disorder in the West of Iran

    Directory of Open Access Journals (Sweden)

    Najafi Vosough

    2016-02-01

    Full Text Available Background Drug addiction, obsessive compulsive disorders (OCD, and other anxiety disorders are the disorders most commonly found in patients with bipolar disorder. Objectives The purpose of this study was to identify the factors affecting the risk of drug addiction, obsessive compulsive disorders, and other anxiety disorders in patients with bipolar disorder. Patients and Methods In this retrospective cohort study, the medical records of 400 patients with bipolar disorder hospitalized in Hamadan, Iran, between 2008 and 2014 were examined. Patient information, including demographic characteristics and comorbidity, was collected. A data analysis was performed using a separate logistic regression for each disorder. The statistical package used was STATA software version 11. A P-value of less than 0.05 was considered statistically significant. Results The mean (SD age of the patients with bipolar disorder was 34.62 (1.68 years. Of the 400 patients with bipolar disorder, 135 (33.75% patients had anxiety disorders, 67 (16.8% patients suffered from drug addiction, and 45 (11% patients had OCD. An association was established between drug addiction and OCD, and gender (P ≤ 0.05. The ORs of anxiety disorders, drug addiction, and OCD were 1.05 (95% CI = 0.65 - 1.68, 0.26 (95% CI = 0.10 - 0.63, and 2.33 (95% CI = 1.21 - 4.48 for women, and 0.92 (95% CI = 0.52 - 2.13, 3.01 (95% CI = 1.64 - 5.55, and 0.64 (95% CI = 0.25 - 1.62 for the patients who smoked, respectively. In addition, there was no significant association between the different disorders and age, marital status, history of relapse, and history of suicide. Conclusions The results showed that there was a greater risk of anxiety disorders with bipolar disorder than other disorders. While women with bipolar disorder were at higher risk of anxiety disorders and OCD, men were at greater risk of drug addiction.

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

    Science.gov (United States)

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

    2017-11-17

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

  16. Delayed visual maturation: ophthalmic and neurodevelopmental aspects.

    Science.gov (United States)

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

    1990-10-01

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

  17. Predominant polarity and temperament in bipolar and unipolar affective disorders.

    Science.gov (United States)

    Mazzarini, Lorenzo; Pacchiarotti, Isabella; Colom, Francesc; Sani, Gabriele; Kotzalidis, Giorgio D; Rosa, Adriane R; Sanna, Livia; De Rossi, Pietro; Girardi, Nicoletta; Bonnin, C Mar; Sanchez-Moreno, Jose; Vazquez, Gustavo H; Gasto, Cristobal; Tatarelli, Roberto; Vieta, Eduard

    2009-12-01

    Recently, the concept of predominant polarity (two-thirds of episodes belonging to a single pole of the illness) has been introduced to further characterise subtypes of bipolar disorders. This concept has been proven to have diagnostic and therapeutic implications, but little is known on the underlying psychopathology and temperaments. With this study, we aimed to further validate the concept and explore its relationships with temperament. This study enrolled 143 patients with bipolar or unipolar disorder. We analysed predominant polarity in the sample of bipolar I patients (N=124), focussing on those who showed a clear predominance for one or the other polarity, and distinguishing manic/hypomanic (MP) from depressive polarity (DP), and a unipolar major depression (UP) group (N=19),. We also assessed temperament by means of the Temperament Evaluation of the Memphis, Pisa, Paris, and San Diego Autoquestionnaire (TEMPS-A). Over 55% of the bipolar I sample fulfilled predominant polarity criteria, with two-thirds of those meeting criteria for MP and one third for DP. MP and DP were similar in scoring higher than UP on the hyperthymic/cyclothymic scales of the TEMPS-A; the UP group scored higher on the anxious/depressive scales. Our results show that both bipolar I MP and DP subgroups are temperamentally similar and different from UP. Depression in DP bipolar I patients should be viewed as the overlap of depression on a hyperthymic/cyclothymic temperament. These findings confirm the value of the predominant polarity concept as well as the importance of temperaments to separate bipolar from unipolar disorders.

  18. Religious convictions in patients with epilepsy-associated affective disorders

    DEFF Research Database (Denmark)

    Vaaler, Arne E; Kondziella, Daniel; Morken, Gunnar

    2015-01-01

    Patients with epilepsy often have different mood symptoms and behavioral trait characteristics compared to the non-epileptic population. In the present prospective study, we aimed to assess differences in behavioral trait characteristics between acutely admitted, psychiatric in-patients with epil......Patients with epilepsy often have different mood symptoms and behavioral trait characteristics compared to the non-epileptic population. In the present prospective study, we aimed to assess differences in behavioral trait characteristics between acutely admitted, psychiatric in...... characteristics at admission or in clinical history should alert the psychiatrist and lead to closer examination for a possible convulsive disorder....

  19. Affective spectrum disorders and role of serotonergic system of the brain

    Directory of Open Access Journals (Sweden)

    Timotijević Ivana P.

    2014-01-01

    Full Text Available Affective spectrum disorders include mood and anxiety disorders, whereas the term functional somatic syndromes describes disorders in which the main symptom is chronic pain, with no pathognomonic tissue damage, such as fibromyalgia, irritable colon, tension headache. Pain as a symptom is often present in patients with depression and anxiety, and similarly, depressed mood, anxiety and other psychiatric symptoms are common in patients with functional somatic syndromes. This explains attitudes that affective disorders and functional somatic syndromes should be found along the same spectrum, due to a similar neurobiochemicalmehanism and dysfunction of these CNS structures and neurotransmitter systems, which lead to similar symptoms in both groups. The symptoms of affective disorders, including somatic are associated with serotonin and serotonergic transmission in the CNS. The existence of depressive and anxiety disorders, such as fatigue, sleep disorders, cognitive disorders, depressed mood, anxiety, and functional somatic syndromes code indicate a similar mechanism of origin. Hypothesis of central neuropathic pain explains the possibility of the descending inhibitory pain mechanisms, including serotonergic and noradrenergic projections and their receptors. Central suprasegmental senzitization in nociceptive pathways, also at the level of the thalamus and the sensory cortex, trigered by an emotional stressors can cause painful symptoms in both groups of disorders. Serotonergic and noradrenergic pathways and voltage sensitive channels of their receptors are included in the mechanism. Modern psychopharmacology can no longer ignore the existence of painful symptoms in affective disorder or depressive and anxiety symptoms in functional somatic syndromes and their treatment can improve. Therapeutic effects of SSRI and SNRI antidepressants and alpha 2 delta ligands for all kinds of painful symptoms in affective disorders - serotonergic spectrum is

  20. Effects of childhood trauma on working memory in affective and non-affective psychotic disorders.

    Science.gov (United States)

    Quidé, Yann; O'Reilly, Nicole; Rowland, Jesseca E; Carr, Vaughan J; Elzinga, Bernet M; Green, Melissa J

    2017-06-01

    Childhood trauma is a significant risk factor for the development of psychotic disorders, and may influence executive brain functions. We thus set out to investigate the long-term effects of childhood trauma exposure on brain function of adult chronic patients diagnosed with schizophrenia, schizoaffective disorder and (psychotic) bipolar-I disorder while performing a standard 2/0-back working memory task. Participants were 50 cases diagnosed with schizophrenia/schizoaffective disorder (SCZ), 42 cases with bipolar-I disorder (BD), and 47 healthy controls (HC). Among this sample, 56 clinical cases (SCZ = 32; BD = 24) and 17 HC reported significant levels of childhood trauma, while 36 clinical cases (SCZ = 18; BD = 18) and 30 HC did not. Effects of childhood trauma on working memory-related brain activation were examined in combined samples of clinical cases (independently of diagnosis) relative to HCs, as well as within each diagnostic category. Case-control analyses revealed increased activation of the left inferior parietal lobule as a main effect of trauma exposure. In addition, trauma exposure interacted with a diagnosis of SCZ or BD to reveal trauma-related increased activation in the cuneus in clinical cases and decreased activation in this region in controls. Disorder-specific functional alterations were also evident in the SCZ sample, but not BD. Childhood trauma exposure elicits aberrant function of parietal regions involved in working memory performance regardless of clinical status, as well as task-relevant visual regions that participates to attentional processes. Childhood trauma may therefore contribute to alterations in attention in SCZ and BD while performing an n-back working memory task.

  1. Social adjustment based on reported behaviour in bipolar affective disorder.

    Science.gov (United States)

    Morriss, Richard; Scott, Jan; Paykel, Eugene; Bentall, Richard; Hayhurst, Hazel; Johnson, Tony

    2007-01-01

    To determine the effects of mood and additional clinical variables on different domains of current interviewer-rated social adjustment reflecting the reported behaviour of patients with bipolar disorder (BD). Multi-center cross-sectional study employing multiple linear regression to investigate whether mood and other clinical features, previously linked to self-rated social adjustment, were associated with eight domains of interviewer-rated social adjustment in 253 BD patients. Baseline variables were entered sequentially in blocks representing current mood, demographic, current other psychiatric, past psychiatric and current treatment variables. Mood episode or symptoms together with five other variables (borderline/antisocial personality disorder, male gender, living alone, hypnotic drug and drugs for physical illness) were associated with impairment on two or more domains of interviewer-rated social adjustment. They explained up to 31% of the variance in social adjustment, although friction, dependence and overactivity were associated with a different pattern of variables. Hypomanic symptoms were associated with increased friction and worse social adjustment with the extended family in the whole sample but improved performance and social and leisure activities in patients who were not in acute bipolar episode. Clinicians may determine up to about 30% of outcome in current social adjustment in BD patients from the patient's current mood episode or symptoms and a small number of other clinical or demographic variables. Hypomanic episodes and symptoms usually worsen friction and overall social adjustment, but in patients who are not in acute episode, hypomanic symptoms can increase performance and social and leisure activities.

  2. Genetic studies in narcolepsy, a disorder affecting REM sleep.

    Science.gov (United States)

    Faraco, J; Lin, X; Li, R; Hinton, L; Lin, L; Mignot, E

    1999-01-01

    Narcolepsy is a disabling sleep disorder characterized by excessive daytime sleepiness and abnormal manifestations of rapid eye movement (REM) sleep including cataplexy, sleep paralysis, and hypnagogic hallucinations. It is known to be a complex disorder, with both genetic predisposition and environmental factors playing a role. In humans, susceptibility to narcolepsy is tightly associated with a specific HLA allele, DQB1*0602. In humans and canines, most cases are sporadic. In Doberman pinschers and Labrador retrievers, however, the disease is transmitted as an autosomal recessive gene canarc-1 with full penetrance. This gene is not linked with the dog leukocyte antigen complex, but is tightly linked with a marker with high homology to the human mu-switch immunoglobulin gene. We have isolated several genomic clones encompassing the canarc-1 marker and the variable heavy chain immunoglobulin region in canines. These have been partially sequenced and have been mapped onto specific dog chromosomes by fluorescence in situ hybridization (FISH). Our results indicate that the mu-switch-like marker is not part of the canine immunoglobulin machinery. We are continuing to extend the genomic contig using a newly developed canine BAC library and attempting to identify the corresponding human region of conserved synteny.

  3. Imprinting Disorders: Non-Mendelian Mechanisms Affecting Growth

    Science.gov (United States)

    Butler, Merlin G.

    2016-01-01

    Most autosomal genes are expressed from both maternal and paternal alleles. However, imprinted genes are an example of non-Mendelian genetics, in which only one member of the gene pair is expressed and expression is determined by the parent of origin. Imprinted genes may account for 0.1–1% of all mammalian genes. At least 50 imprinted genes have been identified in humans, and imprinted genes frequently cluster under the control of an imprinting center. Many imprinted genes contribute to growth, either as growth factors, such as insulin-like growth factors (IGF2 in Beckwith-Wiedemann syndrome), or as growth inhibitors, such as the GRB10 gene in Russell-Silver syndrome. Imprinted genes have evolved over time in mammals to fine-tune the growth of the fetus. Paternally expressed genes generally enhance growth, whereas maternally expressed genes appear to suppress growth. In addition, normal and abnormal genomic imprinting and loss of heterozygosity contribute to a wide range of malignancies. A common process for controlling gene activity is methylation, which can be changed during male or female gametogenesis. Examples of classic human disorders related to genomic imprinting are Beckwith-Wiedemann syndrome (chromosome 11), Prader-Willi/Angelman syndromes (chromosome 15), Russell-Silver syndrome (chromosome 7), and Albright hereditary osteodystrophy (chromosome 20). Several of these disorders are discussed and illustrated. PMID:12510981

  4. Profile and Correlates of Disability Among Bipolar Affective Disorder ...

    African Journals Online (AJOL)

    Background: Individuals with Bipolar Affective Disordere unpredictable. This study is aimed at investigating the profile of disability among individuals with BAD and the associated factors. Methods: A total of one hundred consecutively enrolled study participants, made up of adult outpatients with BAD attending a Lagos ...

  5. Can Psychological, Social and Demographical Factors Predict Clinical Characteristics Symptomatology of Bipolar Affective Disorder and Schizophrenia?

    Science.gov (United States)

    Maciukiewicz, Malgorzata; Pawlak, Joanna; Kapelski, Pawel; Łabędzka, Magdalena; Skibinska, Maria; Zaremba, Dorota; Leszczynska-Rodziewicz, Anna; Dmitrzak-Weglarz, Monika; Hauser, Joanna

    2016-09-01

    Schizophrenia (SCH) is a complex, psychiatric disorder affecting 1 % of population. Its clinical phenotype is heterogeneous with delusions, hallucinations, depression, disorganized behaviour and negative symptoms. Bipolar affective disorder (BD) refers to periodic changes in mood and activity from depression to mania. It affects 0.5-1.5 % of population. Two types of disorder (type I and type II) are distinguished by severity of mania episodes. In our analysis, we aimed to check if clinical and demographical characteristics of the sample are predictors of symptom dimensions occurrence in BD and SCH cases. We included total sample of 443 bipolar and 439 schizophrenia patients. Diagnosis was based on DSM-IV criteria using Structured Clinical Interview for DSM-IV. We applied regression models to analyse associations between clinical and demographical traits from OPCRIT and symptom dimensions. We used previously computed dimensions of schizophrenia and bipolar affective disorder as quantitative traits for regression models. Male gender seemed protective factor for depression dimension in schizophrenia and bipolar disorder sample. Presence of definite psychosocial stressor prior disease seemed risk factor for depressive and suicidal domain in BD and SCH. OPCRIT items describing premorbid functioning seemed related with depression, positive and disorganised dimensions in schizophrenia and psychotic in BD. We proved clinical and demographical characteristics of the sample are predictors of symptom dimensions of schizophrenia and bipolar disorder. We also saw relation between clinical dimensions and course of disorder and impairment during disorder.

  6. Negative Affect Shares Genetic and Environmental Influences with Symptoms of Childhood Internalizing and Externalizing Disorders

    Science.gov (United States)

    Mikolajewski, Amy J.; Allan, Nicholas P.; Hart, Sara A.; Lonigan, Christopher J.; Taylor, Jeanette

    2013-01-01

    The co-occurrence of internalizing and externalizing disorders suggests that they may have common underlying vulnerability factors. Research has shown that negative affect is moderately positively correlated with both internalizing and externalizing disorders in children. The present study is the first to provide an examination of negative affect…

  7. Comparing a Cognitive Model and Phototherapy in the Treatment of Seasonal Affective Disorder.

    Science.gov (United States)

    Krantz, Sandra

    Seasonal affective disorder (SAD) is characterized by recurrent major depression or bipolar disorder that occurs annually, usually later in fall as the daylight hours decrease, and that alternates with euthymic or hypomanic moods in the spring and summer. Pioneering research by Dr. Norman Rosenthal and associates has found phototherapy to be…

  8. Delusion of pregnancy in a patient with bipolar affective disorder: A ...

    African Journals Online (AJOL)

    ... seen in a patient with bipolar affective disorder. Early diagnosis and treatment of delusions of pregnancy are important in order to prevent the attendant psychological and social consequences as evident in this case report. Attention of clinicians was drawn to this disorder that was once thought to be rare in this society.

  9. Associations Between Self-Report of Emotional State and the EEG Patterns in Affective Disorders Patients

    NARCIS (Netherlands)

    Wyczesany, M.; Kaiser, J.; Coenen, A.M.L.

    2010-01-01

    The study determines the associations between self-report of ongoing emotional state and EEG patterns. A group of 31 hospitalized patients were enrolled with three types of diagnosis: major depressive disorder, manic episode of bipolar affective disorder, and nonaffective patients. The Thayer ADACL

  10. Impairment of executive function and attention predicts onset of affective disorder in healthy high-risk twins

    DEFF Research Database (Denmark)

    Vinberg, Maj; Miskowiak, Kamilla W; Kessing, Lars Vedel

    2013-01-01

    To investigate whether measures of cognitive function can predict onset of affective disorder in individuals at heritable risk.......To investigate whether measures of cognitive function can predict onset of affective disorder in individuals at heritable risk....

  11. The temperament and character traits in patients with major depressive disorder and bipolar affective disorder with and without suicide attempt.

    Science.gov (United States)

    Erić, Anamarija Petek; Erić, Ivan; Ćurković, Mario; Dodig-Ćurković, Katarina; Kralik, Kristina; Kovač, Vlatka; Filaković, Pavo

    2017-06-01

    Suicide and mood disorders (especially major depressive disorder (MDD) and bipolar affective disorder (BD)) represent a significant global health burden. Major depressive disorder and bipolar affective disorder have been associated with increased risk for suicide. Some specific suicide risk factors might be found in underlying individual personality traits. Specific personality features may predispose an individual to mood disorders (MDD or BD) hence increased suicide risk. The specificity of this research is in the assessment of personality features during the acute phase of illness immediately after suicide attempt which resulted in psychiatric inpatient treatment. The study included 119 unrelated Caucasian participants with MDD-severe depressive episode without psychotic symptoms (MDD) and BD-severe depressive episode without psychotic symptoms (BD-sDE). Both groups of patients with MDD and BD-sDE were divided into the suicide attempters and non-suicidal group. The diagnoses of the severe depressive episode without psychotic symptoms in major depressive disorder (MDD; F32.2) and bipolar disorder (BD-sDE; F31.4) were made according to ICD-10 (WHO 1992) diagnostic criteria. Methods of suicide attempts were also assessed according to ICD-10 and a self-report questionnaire, the Temperament and Character Inventory (TCI) was applied. The participants who exhibited suicide attempt had significantly higher scores on harm-avoidance (HA) (psuicidal attempt had significantly lower scores on self-directedness (SD) (psuicide attempt may have some significantly different personality traits than non-suicidal patients with mood disorders. The combination of high harm-avoidance (HA) and low self-directedness (SD) may be specific for depressive episode while the combination of high HA, novelty-seeking (NS), and self-transcendence (ST) with low SD may be related to suicide attempts during the depressive episode in bipolar disorder. The novelty-seeking (NS), self-transcendence (ST

  12. Cognition in schizophrenia and schizo-affective disorder: impairments that are more similar than different

    Science.gov (United States)

    Owoso, A.; Carter, C. S.; Gold, J.M.; MacDonald, A.W.; Ragland, J.D.; Silverstein, S.M.; Strauss, M. E.; Barch, D. M.

    2014-01-01

    Background Cognition is increasingly being recognized as an important aspect of psychotic disorders and a key contributor to functional outcome. In the past, comparative studies have been performed in schizophrenia and schizo-affective disorder with regard to cognitive performance, but the results have been mixed and the cognitive measures used have not always assessed the cognitive deficits found to be specific to psychosis. A set of optimized cognitive paradigms designed by the Cognitive Neuroscience Test Reliability and Clinical Applications for Schizophrenia (CNTRACS) Consortium to assess deficits specific to schizophrenia was used to measure cognition in a large group of individuals with schizophrenia and schizo-affective disorder. Method A total of 519 participants (188 with schizophrenia, 63 with schizo-affective disorder and 268 controls) were administered three cognitive paradigms assessing the domains of goal maintenance in working memory, relational encoding and retrieval in episodic memory and visual integration. Results Across the three domains, the results showed no major quantitative differences between patient groups, with both groups uniformly performing worse than healthy subjects. Conclusions The findings of this study suggests that, with regard to deficits in cognition, considered a major aspect of psychotic disorder, schizophrenia and schizo-affective disorder do not demonstrate major significant distinctions. These results have important implications for our understanding of the nosological structure of major psychopathology, providing evidence consistent with the hypothesis that there is no natural distinction between cognitive functioning in schizophrenia and schizo-affective disorder. PMID:23522057

  13. Autonomous motivation is associated with the maintenance stage of behaviour change in people with affective disorders.

    Science.gov (United States)

    Vancampfort, Davy; Moens, Herman; Madou, Tomas; De Backer, Tanja; Vallons, Veerle; Bruyninx, Peter; Vanheuverzwijn, Sarah; Mota, Cindy Teixeira; Soundy, Andy; Probst, Michel

    2016-06-30

    The present study examined whether in people with affective disorders motives for adopting and maintaining physical activity recommendations (as formulated by the self-determination theory) differed across the stages of behaviour change (identified by the transtheoretical model). A total of 165 (105♀) persons (45.6±14.2years) with affective disorders [major depressive disorder (n=96) or bipolar disorder (n=69)] completed the Behavioural Regulation in Exercise Questionnaire-2 and the Patient-centred Assessment and Counselling for Exercise questionnaire. Discriminant and multivariate analyses demonstrated that persons with affective disorders at the early stages of change have less autonomous and more controlled physical activity motives than those at the later stages. Our results suggest that autonomous motivation may have an important role to play in the maintenance of health recommendations in persons with affective disorders. Longitudinal and intervention studies should be designed in people with affective disorders to identify the causal pathways between motives for maintaining health recommendations, effective changes in health behaviour and physical and mental health outcomes. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  14. Early parental death and risk of hospitalization for affective disorder in adulthood

    DEFF Research Database (Denmark)

    Appel, Charlotte Welling; Johansen, Christoffer; Deltour, Isabelle

    2013-01-01

    Early parental death is one of the most stressful childhood life events and may influence subsequent psychological health. We investigated the association between early parental loss and risk of hospitalization for an affective disorder in adulthood.......Early parental death is one of the most stressful childhood life events and may influence subsequent psychological health. We investigated the association between early parental loss and risk of hospitalization for an affective disorder in adulthood....

  15. Binder phenotype in mothers affected with autoimmune disorders.

    Science.gov (United States)

    Colin, E; Touraine, R; Levaillant, J M; Pasquier, L; Boussion, F; Ferry, M; Guichet, A; Barth, M; Mercier, A; Gérard-Blanluet, M; Odent, S; Bonneau, D

    2012-08-01

    To report four foetal cases of the Binder phenotype associated with maternal autoimmune disorders. In three mothers with autoimmune diseases, 2D and 3D ultrasonographic measurements were made on four foetuses with the Binder profile, and were compared with postnatal phenotypes. The Binder phenotype can be detected in early pregnancy (14.5 WG). All foetuses had verticalized nasal bones and midfacial hypoplasia. Punctuate calcifications were found in almost all the cases. No specific maternal auto-antibody has been associated with foetal Binder phenotype. Since the Binder phenotype can be diagnosed at ultrasound examination during pregnancy, it is important to establish the underlying cause so as to assess the foetal prognosis. This study stresses the importance of systematic checks for maternal autoimmune disease in cases of prenatally diagnosed Binder phenotypes.

  16. Dandy-Walker variant associated with bipolar affective disorder.

    Science.gov (United States)

    Lingeswaran, Anand; Barathi, Deepak; Sharma, Gyaneswahr

    2009-07-01

    The Dandy-Walker malformation is a congenital brain malformation, typically involving the fourth ventricle and the cerebellum. To date, the Dandy-Walker syndrome has not been described in association with bipolar disorder type I mania, and therefore we briefly report the case of a Dandy-Walker variant associated with acute mania. A 10-year-old boy was brought by his mother to the outpatient clinic of the Department of Psychiatry of a tertiary care hospital, with symptoms of mania. The MRI brain of the patient showed a posterior fossa cystic lesion, a giant cisterna magna communicating with the fourth ventricle and mild hypoplasia of the cerebellar vermis, with the rest of the structures being normal and no signs of hydrocephalus. These findings showed that the patient had a Dandy-Walker variant. He responded partially to valproate and olanzepine, which controlled the acute manic symptoms in the ward.

  17. The relationship between activating affects, inhibitory affects, and self-compassion in patients with Cluster C personality disorders.

    Science.gov (United States)

    Schanche, Elisabeth; Stiles, Tore C; McCullough, Leigh; Svartberg, Martin; Nielsen, Geir Høstmark

    2011-09-01

    In the short-term dynamic psychotherapy model termed "Affect Phobia Treatment," it is assumed that increase in patients' defense recognition, decrease in inhibitory affects (e.g., anxiety, shame, guilt), and increase in the experience of activating affects (e.g., sadness, anger, closeness) are related to enhanced self-compassion across therapeutic approaches. The present study aimed to test this assumption on the basis of data from a randomized controlled trial, which compared a 40-session short-term dynamic psychotherapy (N = 25) with 40-session cognitive treatment (N = 25) for outpatients with Cluster C personality disorders. Patients' defense recognition, inhibitory affects, activating affects, and self-compassion were rated with the Achievement of Therapeutic Objectives Scale (McCullough et al., 2003b) in Sessions 6 and 36. Results showed that increase in self-compassion from early to late in therapy significantly predicted pre- to post-decrease in psychiatric symptoms, interpersonal problems, and personality pathology. Decrease in levels of inhibitory affects and increase in levels of activating affects during therapy were significantly associated with higher self-compassion toward the end of treatment. Increased levels of defense recognition did not predict higher self-compassion when changes in inhibitory and activating affects were statistically controlled for. There were no significant interaction effects with type of treatment. These findings support self-compassion as an important goal of psychotherapy and indicate that increase in the experience of activating affects and decrease in inhibitory affects seem to be worthwhile therapeutic targets when working to enhance self-compassion in patients with Cluster C personality disorders. (c) 2011 APA, all rights reserved.

  18. Online social networking addiction among college students in Singapore: Comorbidity with behavioral addiction and affective disorder.

    Science.gov (United States)

    Tang, Catherine So-Kum; Koh, Yvaine Yee Woen

    2017-02-01

    This study aimed to determine the prevalence of addiction to social networking sites/platforms (SNS) and its comorbidity with other behavioral addiction and affective disorder among college students in Singapore. 1110 college students (age: M=21.46, SD=1.80) in Singapore completed measures assessing online social networking, unhealthy food intake and shopping addiction as well as depression, anxiety and mania. Descriptive analyses were conducted to investigate the prevalence and comorbidity of behavioral addiction and affective disorder. Chi-square tests were used to examine gender differences. The prevalence rates of SNS, food and shopping addiction were 29.5%, 4.7% and 9.3% respectively for the total sample. SNS addiction was found to co-occur with food addiction (3%), shopping addiction (5%), and both food and shopping addiction (1%). The comorbidity rates of SNS addiction and affective disorder were 21% for depression, 27.7% for anxiety, and 26.1% for mania. Compared with the total sample, students with SNS addiction reported higher comorbidity rates with other behavioral addiction and affective disorder. In general, females as compared to males reported higher comorbidity rates of SNS addiction and affective disorder. SNS addiction has a high prevalence rate among college students in Singapore. Students with SNS addiction were vulnerable to experience other behavior addiction as well as affective disorder, especially among females. Copyright © 2016. Published by Elsevier B.V.

  19. Behavioral family treatment for patients with bipolar affective disorder.

    Science.gov (United States)

    Miklowitz, D J; Goldstein, M J

    1990-10-01

    Techniques of behavioral family management (BFM), which have been found to be highly effective in delaying relapse for schizophrenic patients when used as adjuncts to medication maintenance, are also applicable in the outpatient treatment of recently hospitalized bipolar, manic patients. The authors describe their adaptation of the educational, communication skills training, and problem-solving skills training modules of BFM to families containing a bipolar member. The observations that families of bipolar patients are often high functioning, and that these families seem to enjoy interchanges that are highly affective and spontaneous, led to certain modifications in the original BFM approach. The authors found it necessary to be (a) more flexible and less didactic, (b) more oriented toward dealing with affect and resistance to change, and (c) more focused on the patient's and family members' feelings about labeling, stigmatization, and medication usage. Research issues relevant to testing the efficacy of this approach are also discussed.

  20. Perspectives on Individual Differences Affecting Therapeutic Change in Communication Disorders. New Directions in Communication Disorders Research

    Science.gov (United States)

    Weiss, Amy L., Ed.

    2009-01-01

    This volume examines the ramifications of individual differences in therapy outcomes for a wide variety of communication disorders. In an era where evidence-based practice is the clinical profession's watchword, each chapter attacks this highly relevant issue from a somewhat different perspective. In some areas of communication disorders,…

  1. [Psychiatric disorders in intensive care--part three: psychic reactions, affective and anxiety disorders].

    Science.gov (United States)

    Krauseneck, Till; Krähenmann, Olivia; Heimendahl, Jenny von; Schelling, Gustav; Padberg, Frank

    2007-03-01

    Perpetual noise, pain, disturbed day-night-cycle, the inability to talk and the difficulty, especially during weaning, to differentiate alertness from sleep and dream from reality are some of the burdens ICU patients are suffering from. Additional sedation and potential sedation gaps plus the medical treatment itself put strain on critically ill humans. Those external stimuli partly cannot be handled well by the patients. Some of these factors or a combination of them, combined with a predisposition and/or insufficient coping mechanisms can result in a wide range of psychiatric disorders. Often psychiatric symptoms appear unspecific and difficult to categorize. Firstly some psychopathological cardinal symptoms are described and potential differential diagnoses are mentioned. After that the following article focuses on sleep, adjustment, depressive and the spectrum of anxiety disorders (especially generalized anxiety disorders, panic disorders, acute stress disorder (ASD) and posttraumatic stress disorder (PTSD)). The article provides prevalences, etiology and risk factors as well as symptomatology, diagnostics and therapeutic options. Those disorders can be diagnosed in ICU but also after transferring to general ward. In our own experience the transfer period is a vulnerable phase for psychopathologic symptoms. As apart from the individual suffering the course of the somatic disease as well as the rehabilitation process are impaired and the disorders have a tendency to have a chronic course, close and early collaboration of ICU physicians and psychiatrists is mandatory.

  2. The Effects of Dietary Tryptophan on Affective Disorders

    Science.gov (United States)

    Lindseth, Glenda; Helland, Brian; Caspers, Julie

    2014-01-01

    Using a randomized crossover study design, 25 healthy young adults were examined for differences in anxiety, depression, and mood after consuming a high tryptophan and a low tryptophan diet for four days each. There was a two week washout between the diets. A within-subjects analysis of the participants’ mood indicated significantly (p tryptophan diet as compared to a low tryptophan diet. Negative affect differences between the diets were not statistically significant (p > .05). Also, consuming more dietary tryptophan resulted in (p < .05) less depressive symptoms and decreased anxiety. PMID:25858202

  3. Body dysmorphic disorder: A complex and polymorphic affection

    Directory of Open Access Journals (Sweden)

    Patrizia Fiori

    2009-09-01

    Full Text Available Patrizia Fiori1,2, Luigi Maria Giannetti1,31II University of Naples, 2Neurologist, 3Director of Infantile Neuropsychiatry, Civil Hospital of Ariano Irpino, ASL AV, II University of Naples, Naples, Italy; 3La Crisalide, Aesthetical Medical Center, Naples, ItalyBackground: Body dysmorphic disorder (BDD is defined as a syndrome characterized by an excessive preoccupation because of a presumed or minimal physical flaw in appearance that polarizes the energies of the subject. So far, its specular aspect, represented by the presence of an evident physical defect that is not recognized or is even denied and neglected, has been disregarded. The aim of our study was to examine the individual and relational meaning of BDD and to evaluate the efficacy of cognitive-behavioral and medical–aesthetical treatments.Methods and results: We describe two subjects with BDD, diagnosed by clinical interviews and test. Both patients were compliant to cognitive-behavioral approach. One out of two subjects underwent aesthetical treatments.Conclusions: Cognitive-behavioral therapy stimulates self-consciousness, rebuilds the body image, promotes health care, and improves relational capacity. Moreover, it ensures the success of any medical and/or surgical procedures by preventing unrealistic expectations. Lastly, it contributes to the definition of worldwide shared behavioral models.Keywords: diagnostic criteria, body image, cognition, aesthetical treatments

  4. Bipolar disorder affects behavior and social skills on the Internet.

    Science.gov (United States)

    Martini, Thaís; Czepielewski, Letícia Sanguinetti; Fijtman, Adam; Sodré, Leonardo; Wollenhaupt-Aguiar, Bianca; Pereira, Caroline Silveira; Vianna-Sulzbach, Mireia; Goi, Pedro D; Rosa, Adriane Ribeiro; Kapczinski, Flavio; Kunz, Maurício; Kauer-Sant'anna, Marcia

    2013-01-01

    Bipolar disorder (BD) is a significant cause of functional, cognitive, and social impairment. However, classic studies of functioning and social skills have not investigated how BD may impact behavior on the Internet. Given that the digital age has been changing the way people communicate, this study aims to investigate the pattern of Internet use in patients with BD. This cross-sectional study assessed 30 patients with BD I or II and 30 matched controls. Patients were not in an acute mood episode, according to DSM-IV. A standard protocol examined sociodemographic variables and social behavior on the Internet, assessed by Facebook number of friends (FBN) and lifetime estimated number of offline contacts (social network number, SNN). SNN (psocial networking sites (p = 0.042). Also, patients showed lower rates of the expected pattern of Internet use (based on their age generation), including a poorer knowledge of SNS (p = 0.018) and a lower frequency of Internet use (p = 0.010). This study suggests that patients with BD show smaller social networks both in real-world settings and on the Internet. Also, patients tend to use the Internet and social networking sites less frequently and show a poorer knowledge of Internet and social media than healthy controls, below the expected for their generation. These significant differences between patients and controls suggest that the effects of BD on social relationships and functioning extend to electronic media.

  5. Affective Reactivity in Response to Criticism in Remitted Bipolar Disorder: A Laboratory Analog of Expressed Emotion

    Science.gov (United States)

    Cuellar, Amy K.; Johnson, Sheri L.; Ruggero, Camilo J.

    2010-01-01

    Potential mechanisms to explain the relationship between Expressed Emotion (EE) and poor outcome within bipolar disorder are poorly understood. One possibility is that people with bipolar disorder have difficulty regulating their affect in response to criticism. The present study examined whether participants with bipolar disorder were more affectively dysregulated than control participants when presented with a criticism by a confederate. There was a trend for people with bipolar disorder to react more negatively to the criticism, but there was also evidence that they recovered as quickly as controls. Exploratory analyses found that female gender, the perception of the criticism as more negative, being disabled, and having fewer positive relationships predicted greater reactivity to criticism among people with bipolar disorder. PMID:19459195

  6. Cognitive, affective, and behavioral characteristics of mothers with anxiety disorders in the context of child anxiety disorder.

    Science.gov (United States)

    Creswell, Cathy; Apetroaia, Adela; Murray, Lynne; Cooper, Peter

    2013-02-01

    Parental emotional distress, particularly high maternal anxiety, is one of the most consistent predictors of child anxiety treatment outcome. In order to identify the cognitive, affective, and behavioral parenting characteristics of mothers of children with anxiety disorders who themselves have an anxiety disorder, we assessed the expectations, appraisals, and behaviors of 88 mothers of anxious children (44 mothers who were not anxious [NONANX] and 44 mothers with a current anxiety disorder [ANX]) when interacting with their 7-12-year-old children. There were no observed differences in anxiety and avoidance among children of ANX and NONANX mothers, but, compared with NONANX mothers, ANX mothers held more negative expectations, and they differed on observations of intrusiveness, expressed anxiety, warmth, and the quality of the relationship. Associations were moderated by the degree to which children expressed anxiety during the tasks. Maternal-reported negative emotions during the task significantly mediated the association between maternal anxiety status and the observed quality of the relationship. These findings suggest that maternal anxiety disorder is associated with reduced tolerance of children's negative emotions. This may interfere with the maintenance of a positive, supportive mother-child interaction under conditions of stress and, as such, this may impede optimum treatment outcomes. The findings identify potential cognitive, affective, and behavioral targets to improve treatment outcomes for children with anxiety disorders in the context of a current maternal anxiety disorder. 2013 APA, all rights reserved

  7. Unaffected twins discordant for affective disorders show changes in anterior callosal white matter microstructure

    DEFF Research Database (Denmark)

    Macoveanu, J; Vinberg, M; Madsen, K.

    2016-01-01

    tracts, that is, cingulum bundle, uncinate fasciculus, anterior limb of the internal capsule, and corpus callosum, that facilitate the communication between brain regions implicated in affective disorders. METHOD: Eighty-nine healthy mono- or dizygotic twins with a co-twin diagnosed with MDD or BD (high...... communication between left and right frontal regions critically involved in mood regulation. Reduced anterior callosal FA may act as a vulnerability marker for affective disorders in individuals at familial risk.......OBJECTIVE: The neurobiological mechanisms mediating an increased risk to develop affective disorders remain poorly understood. In a group of individuals with a family history of major depressive (MDD) or bipolar disorder (BD), we investigated the microstructural properties of white matter fiber...

  8. Suicide attempts and psychological risk factors in patients with bipolar and unipolar affective disorder.

    Science.gov (United States)

    Pawlak, Joanna; Dmitrzak-Węglarz, Monika; Skibińska, Maria; Szczepankiewicz, Aleksandra; Leszczyńska-Rodziewicz, Anna; Rajewska-Rager, Aleksandra; Maciukiewicz, Małgorzata; Czerski, Piotr; Hauser, Joanna

    2013-01-01

    Suicide is an important clinical problem in psychiatric patients. The highest risk of suicide attempts is noted in affective disorders. The aim of the study was looking for suicide risk factors among personality dimensions and value system in patients with diagnosis of unipolar and bipolar affective disorder (n=189 patients, n=101 controls). To establish the diagnosis, we used SCID (Structured clinical interview for diagnostic and statistical manual of mental disorders, fourth edition) questionnaire, TCI (Temperament and Character Inventory) questionnaire and Value Survey--to assess the personality. The main limitations of the study are number of participants, lack of data about stressful life events and treatment with lithium. Novelty seeking and harm avoidance dimensions constituted suicide attempt risk factors in the group of patients with affective disorders. Protective role of cooperativeness was discovered. Patients with and without suicide attempt in lifetime history varied in self-esteem position in Value Survey. Copyright © 2013 Elsevier Inc. All rights reserved.

  9. Recruiting for research studies using online public advertisements: examples from research in affective disorders

    Science.gov (United States)

    Wise, Toby; Arnone, Danilo; Marwood, Lindsey; Zahn, Roland; Lythe, Karen E; Young, Allan H

    2016-01-01

    Successful recruitment is vital for any research study. Difficulties in recruitment are not uncommon and can have important implications. This is particularly relevant to research conducted in affective disorders due to the nature of the conditions and the clinical services that serve these patients. Recently, online public advertisements have become more generally accessible and may provide an effective way to recruit patient populations. However, there is paucity of evidence on their viability as a method of recruiting patients into studies of disease mechanisms in these disorders. Public advertisement methods can be useful when researchers require specific populations, such as those not receiving pharmacological treatment. This work describes our experience in successfully recruiting participants into neuroimaging research studies in affective disorders using online public advertisements. Results suggest that these online public advertisements are an effective method for successfully recruiting participants with affective disorders into research studies, particularly for research focusing on disease mechanisms in specific populations. PMID:26917961

  10. Recruiting for research studies using online public advertisements: examples from research in affective disorders.

    Science.gov (United States)

    Wise, Toby; Arnone, Danilo; Marwood, Lindsey; Zahn, Roland; Lythe, Karen E; Young, Allan H

    2016-01-01

    Successful recruitment is vital for any research study. Difficulties in recruitment are not uncommon and can have important implications. This is particularly relevant to research conducted in affective disorders due to the nature of the conditions and the clinical services that serve these patients. Recently, online public advertisements have become more generally accessible and may provide an effective way to recruit patient populations. However, there is paucity of evidence on their viability as a method of recruiting patients into studies of disease mechanisms in these disorders. Public advertisement methods can be useful when researchers require specific populations, such as those not receiving pharmacological treatment. This work describes our experience in successfully recruiting participants into neuroimaging research studies in affective disorders using online public advertisements. Results suggest that these online public advertisements are an effective method for successfully recruiting participants with affective disorders into research studies, particularly for research focusing on disease mechanisms in specific populations.

  11. Recruiting for research studies using online public advertisements examples from research in affective disorders

    Directory of Open Access Journals (Sweden)

    Wise T

    2016-02-01

    Full Text Available Toby Wise,1 Danilo Arnone,1 Lindsey Marwood,1 Roland Zahn,1–3 Karen E Lythe,2,3 Allan H Young1 1Centre for Affective Disorders, Department of Psychological Medicine, Institute of Psychiatry, King’s College London, London, 2Neuroscience and Aphasia Research Unit, School of Psychological Sciences, 3Manchester Academic Health Science Centre, University of Manchester, Manchester, UK Abstract: Successful recruitment is vital for any research study. Difficulties in recruitment are not uncommon and can have important implications. This is particularly relevant to research conducted in affective disorders due to the nature of the conditions and the clinical services that serve these patients. Recently, online public advertisements have become more generally accessible and may provide an effective way to recruit patient populations. However, there is paucity of evidence on their viability as a method of recruiting patients into studies of disease mechanisms in these disorders. Public advertisement methods can be useful when researchers require specific populations, such as those not receiving pharmacological treatment. This work describes our experience in successfully recruiting participants into neuroimaging research studies in affective disorders using online public advertisements. Results suggest that these online public advertisements are an effective method for successfully recruiting participants with affective disorders into research studies, particularly for research focusing on disease mechanisms in specific populations. Keywords: recruitment, affective disorders, advertising, depression, anxiety, bipolar

  12. The Unique Effects of Parental Alcohol and Affective Disorders, Parenting, and Parental Negative Affect on Adolescent Maladjustment.

    Science.gov (United States)

    Haller, Moira; Chassin, Laurie

    2011-07-01

    Using a high-risk community sample, multiple regression analyses were conducted separately for mothers ( N =416) and fathers ( N = 346) to test the unique, prospective influence of parental negative affect on adolescent maladjustment (internalizing symptoms, externalizing symptoms, and negative emotionality) two years later over and above parental alcohol and affective disorders, major disruption in the family environment, and parenting. Adolescent sex was tested as a moderator. Results indicated that maternal (but not paternal) negative affect had a unique, prospective effect on adolescent internalizing symptoms in girls and negative emotionality in both sexes, but did not predict adolescent externalizing symptoms. Findings demonstrate that mothers' negative affect may have unique effects on adolescent adjustment, separate from the effects of clinically significant parental psychopathology, parenting, and disruption in the family environment.

  13. COMT genetic variation confers risk for psychotic and affective disorders: a case control study

    Directory of Open Access Journals (Sweden)

    Lencz Todd

    2005-10-01

    Full Text Available Abstract Background Variation in the COMT gene has been implicated in a number of psychiatric disorders, including psychotic, affective and anxiety disorders. The majority of these studies have focused on the functional Val108/158Met polymorphism and yielded conflicting results, with limited studies examining the relationship between other polymorphisms, or haplotypes, and psychiatric illness. We hypothesized that COMT variation may confer a general risk for psychiatric disorders and have genotyped four COMT variants (Val158Met, rs737865, rs165599, and a SNP in the P2 promoter [-278A/G; rs2097603] in 394 Caucasian cases and 467 controls. Cases included patients with schizophrenia (n = 196, schizoaffective disorder (n = 62, bipolar disorder (n = 82, major depression (n = 30, and patients diagnosed with either psychotic disorder NOS or depressive disorder NOS (n = 24. Results SNP rs2097603, the Val/Met variant and SNP rs165599 were significantly associated (p = 0.004; p = 0.05; p = 0.035 with a broad "all affected" diagnosis. Haplotype analysis revealed a potentially protective G-A-A-A haplotype haplotype (-278A/G; rs737865; Val108/158Met; rs165599, which was significantly underrepresented in this group (p = 0.0033 and contained the opposite alleles of the risk haplotype previously described by Shifman et al. Analysis of diagnostic subgroups within the "all affecteds group" showed an association of COMT in patients with psychotic disorders as well as in cases with affective illness although the associated variants differed. The protective haplotype remained significantly underrepresented in most of these subgroups. Conclusion Our results support the view that COMT variation provides a weak general predisposition to neuropsychiatric disease including psychotic and affective disorders.

  14. Bipolar disorder affects behavior and social skills on the Internet.

    Directory of Open Access Journals (Sweden)

    Thaís Martini

    Full Text Available BACKGROUND: Bipolar disorder (BD is a significant cause of functional, cognitive, and social impairment. However, classic studies of functioning and social skills have not investigated how BD may impact behavior on the Internet. Given that the digital age has been changing the way people communicate, this study aims to investigate the pattern of Internet use in patients with BD. METHODS: This cross-sectional study assessed 30 patients with BD I or II and 30 matched controls. Patients were not in an acute mood episode, according to DSM-IV. A standard protocol examined sociodemographic variables and social behavior on the Internet, assessed by Facebook number of friends (FBN and lifetime estimated number of offline contacts (social network number, SNN. RESULTS: SNN (p<0.001 and FBN (p = 0.036 of patients with BD were significantly lower than those of controls. Also, variables related with Internet use were significantly lower in patients, e.g., close contacts on Facebook (p = 0.021, Internet experience (p = 0.020, and knowledge of terms associated with social networking sites (p = 0.042. Also, patients showed lower rates of the expected pattern of Internet use (based on their age generation, including a poorer knowledge of SNS (p = 0.018 and a lower frequency of Internet use (p = 0.010. DISCUSSION: This study suggests that patients with BD show smaller social networks both in real-world settings and on the Internet. Also, patients tend to use the Internet and social networking sites less frequently and show a poorer knowledge of Internet and social media than healthy controls, below the expected for their generation. These significant differences between patients and controls suggest that the effects of BD on social relationships and functioning extend to electronic media.

  15. Long-lasting effects of affective disorders and childhood trauma on dispositional optimism

    NARCIS (Netherlands)

    Broekhof, R.; Rius-Ottenheim, N.; Spinhoven, P.; van der Mast, R.C.; Penninx, B.W.; Zitman, F. G.; Giltay, E.J.

    2015-01-01

    Background Dispositional optimism, a personality trait characterized by generalized positive expectations towards the future, is thought to remain rather stable over time. It is however largely unknown to what extent affective disorders and its risk factors affect dispositional optimism. Methods We