autistic disorder

Summary

Summary: A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-IV)

Top Publications

  1. ncbi The "Reading the Mind in the Eyes" Test revised version: a study with normal adults, and adults with Asperger syndrome or high-functioning autism
    S Baron-Cohen
    Department of Experimental Psychology, University of Cambridge, UK
    J Child Psychol Psychiatry 42:241-51. 2001
  2. ncbi The weak coherence account: detail-focused cognitive style in autism spectrum disorders
    Francesca Happe
    Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King s College London, UK
    J Autism Dev Disord 36:5-25. 2006
  3. ncbi Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP)
    Gillian Baird
    Newcomen Centre, Guy s and St Thomas NHS Foundation Trust, London, UK
    Lancet 368:210-5. 2006
  4. ncbi Autism spectrum disorders: developmental disconnection syndromes
    Daniel H Geschwind
    Program in Neurogenetics, Department of Neurology and Semel Institute, David Geffen School of Medicine at University of California Los Angeles, 710 Westwood Plaza, Los Angeles, CA 90095, USA
    Curr Opin Neurobiol 17:103-11. 2007
  5. pmc Strong association of de novo copy number mutations with autism
    Jonathan Sebat
    Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, NY 11724, USA
    Science 316:445-9. 2007
  6. ncbi The autism-spectrum quotient (AQ): evidence from Asperger syndrome/high-functioning autism, males and females, scientists and mathematicians
    S Baron-Cohen
    Departments of Experimental Psychology and Psychiatry, University of Cambridge, Downing Street, Cambridge, CB2 3EB, United Kingdom
    J Autism Dev Disord 31:5-17. 2001
  7. pmc Transcriptomic analysis of autistic brain reveals convergent molecular pathology
    Irina Voineagu
    Program in Neurogenetics and Neurobehavioral Genetics, Department of Neurology and Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, California 90095 1769, USA
    Nature 474:380-4. 2011
  8. pmc Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
    Joseph T Glessner
    Center for Applied Genomics, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Nature 459:569-73. 2009
  9. pmc Neuroligins and neurexins link synaptic function to cognitive disease
    Thomas C Sudhof
    Neuroscience Institute, Department of Molecular and Cellular Physiology, Stanford University, 1050 Arastradero Road B249, Palo Alto, California 94304, USA
    Nature 455:903-11. 2008
  10. pmc Neocortical excitation/inhibition balance in information processing and social dysfunction
    Ofer Yizhar
    Department of Bioengineering, Stanford University, Stanford, California, USA
    Nature 477:171-8. 2011

Detail Information

Publications369 found, 100 shown here

  1. ncbi The "Reading the Mind in the Eyes" Test revised version: a study with normal adults, and adults with Asperger syndrome or high-functioning autism
    S Baron-Cohen
    Department of Experimental Psychology, University of Cambridge, UK
    J Child Psychol Psychiatry 42:241-51. 2001
    ..The Revised Eyes Test has improved power to detect subtle individual differences in social sensitivity...
  2. ncbi The weak coherence account: detail-focused cognitive style in autism spectrum disorders
    Francesca Happe
    Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King s College London, UK
    J Autism Dev Disord 36:5-25. 2006
    ..Local bias appears not to be a mere side-effect of executive dysfunction, and may be independent of theory of mind deficits. Possible computational and neural models are discussed...
  3. ncbi Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP)
    Gillian Baird
    Newcomen Centre, Guy s and St Thomas NHS Foundation Trust, London, UK
    Lancet 368:210-5. 2006
    ..Recent reports have suggested that the prevalence of autism and related spectrum disorders (ASDs) is substantially higher than previously recognised. We sought to quantify prevalence of ASDs in children in South Thames, UK...
  4. ncbi Autism spectrum disorders: developmental disconnection syndromes
    Daniel H Geschwind
    Program in Neurogenetics, Department of Neurology and Semel Institute, David Geffen School of Medicine at University of California Los Angeles, 710 Westwood Plaza, Los Angeles, CA 90095, USA
    Curr Opin Neurobiol 17:103-11. 2007
    ..This concept of developmental disconnection can accommodate the specific neurobehavioral features that are observed in autism, their emergence during development, and the heterogeneity of autism etiology, behaviors and cognition...
  5. pmc Strong association of de novo copy number mutations with autism
    Jonathan Sebat
    Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, NY 11724, USA
    Science 316:445-9. 2007
    ..Affected genomic regions were highly heterogeneous and included mutations of single genes. These findings establish de novo germline mutation as a more significant risk factor for ASD than previously recognized...
  6. ncbi The autism-spectrum quotient (AQ): evidence from Asperger syndrome/high-functioning autism, males and females, scientists and mathematicians
    S Baron-Cohen
    Departments of Experimental Psychology and Psychiatry, University of Cambridge, Downing Street, Cambridge, CB2 3EB, United Kingdom
    J Autism Dev Disord 31:5-17. 2001
    ..Its potential for screening for autism spectrum conditions in adults of normal intelligence remains to be fully explored...
  7. pmc Transcriptomic analysis of autistic brain reveals convergent molecular pathology
    Irina Voineagu
    Program in Neurogenetics and Neurobehavioral Genetics, Department of Neurology and Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, California 90095 1769, USA
    Nature 474:380-4. 2011
    ..Collectively, our results provide strong evidence for convergent molecular abnormalities in ASD, and implicate transcriptional and splicing dysregulation as underlying mechanisms of neuronal dysfunction in this disorder...
  8. pmc Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
    Joseph T Glessner
    Center for Applied Genomics, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Nature 459:569-73. 2009
    ....
  9. pmc Neuroligins and neurexins link synaptic function to cognitive disease
    Thomas C Sudhof
    Neuroscience Institute, Department of Molecular and Cellular Physiology, Stanford University, 1050 Arastradero Road B249, Palo Alto, California 94304, USA
    Nature 455:903-11. 2008
    ..In humans, alterations in genes encoding neurexins or neuroligins have recently been implicated in autism and other cognitive diseases, linking synaptic cell adhesion to cognition and its disorders...
  10. pmc Neocortical excitation/inhibition balance in information processing and social dysfunction
    Ofer Yizhar
    Department of Bioengineering, Stanford University, Stanford, California, USA
    Nature 477:171-8. 2011
    ..These results provide support for the elevated cellular E/I balance hypothesis of severe neuropsychiatric disease-related symptoms...
  11. ncbi Neuroglial activation and neuroinflammation in the brain of patients with autism
    Diana L Vargas
    Department of Neurology, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, MD 21287, USA
    Ann Neurol 57:67-81. 2005
    ..Our findings indicate that innate neuroimmune reactions play a pathogenic role in an undefined proportion of autistic patients, suggesting that future therapies might involve modifying neuroglial responses in the brain...
  12. ncbi Mapping autism risk loci using genetic linkage and chromosomal rearrangements
    Peter Szatmari
    Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario L8N 3Z5, Canada
    Nat Genet 39:319-28. 2007
    ..Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs...
  13. pmc Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes
    Hsiao Tuan Chao
    Department of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA
    Nature 468:263-9. 2010
    ..These data demonstrate that MeCP2 is critical for normal function of GABA-releasing neurons and that subtle dysfunction of GABAergic neurons contributes to numerous neuropsychiatric phenotypes...
  14. ncbi The empathy quotient: an investigation of adults with Asperger syndrome or high functioning autism, and normal sex differences
    Simon Baron-Cohen
    Autism Research Centre, Department of Experimental Psychology, University of Cambridge, Douglas House, 18b Trumpington Rd, CB2 2AH United Kingdom
    J Autism Dev Disord 34:163-75. 2004
    ..This confirmed that women scored significantly higher than men. The EQ reveals both a sex difference in empathy in the general population and an empathy deficit in AS/HFA...
  15. pmc Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses
    Sarah R Gilman
    Center for Computational Biology and Bioinformatics and Department of Biomedical Informatics, Columbia University, 1130 St Nicolas Ave, New York, NY 10032, USA
    Neuron 70:898-907. 2011
    ..More generally, our study provides proof of the principle that networks underlying complex human phenotypes can be identified by a network-based functional analysis of rare genetic variants...
  16. pmc Mutations causing syndromic autism define an axis of synaptic pathophysiology
    Benjamin D Auerbach
    Howard Hughes Medical Institute, The Picower Institute for Learning and Memory, Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA
    Nature 480:63-8. 2011
    ..Thus, normal synaptic plasticity and cognition occur within an optimal range of metabotropic glutamate-receptor-mediated protein synthesis, and deviations in either direction can lead to shared behavioural impairments...
  17. pmc Understanding emotions in others: mirror neuron dysfunction in children with autism spectrum disorders
    Mirella Dapretto
    Ahmanson Lovelace Brain Mapping Center, Semel Institute for Neuroscience and Human Behavior, Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California Los Angeles, 90095, USA
    Nat Neurosci 9:28-30. 2006
    ..Notably, activity in this area was inversely related to symptom severity in the social domain, suggesting that a dysfunctional 'mirror neuron system' may underlie the social deficits observed in autism...
  18. ncbi Neuroanatomy of autism
    David G Amaral
    The M I N D Institute, Department of Psychiatry and Behavioral Sciences, University of California, Davis, 2825 50th Street, Sacramento, CA 95817, USA
    Trends Neurosci 31:137-45. 2008
    ..Defined phenotypes in larger samples of children and well-characterized brain tissue will be necessary for clarification of the neuroanatomy of autism...
  19. ncbi Brain region-specific glutathione redox imbalance in autism
    Abha Chauhan
    NYS Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY 10314, USA
    Neurochem Res 37:1681-9. 2012
    ....
  20. ncbi Why the frontal cortex in autism might be talking only to itself: local over-connectivity but long-distance disconnection
    Eric Courchesne
    Department of Neurosciences, University of California, San Diego, CA, USA
    Curr Opin Neurobiol 15:225-30. 2005
    ....
  21. pmc A genome-wide linkage and association scan reveals novel loci for autism
    Lauren A Weiss
    Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    Nature 461:802-8. 2009
    ..The linkage regions reported here provide targets for rare variation screening whereas the discovery of a single novel association demonstrates the action of common variants...
  22. ncbi The ESSENCE in child psychiatry: Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations
    Christopher Gillberg
    Institute of Neuroscience and Physiology, Child and Adolescent Psychiatry, University of Goteborg, Sweden
    Res Dev Disabil 31:1543-51. 2010
    ..There is no time to wait; something needs to be done, and that something is unlikely to be just in the area of speech and language, just in the area of autism or just in special education...
  23. ncbi Model of autism: increased ratio of excitation/inhibition in key neural systems
    J L R Rubenstein
    Nina Ireland Laboratory of Developmental Neurobiology, Center for Neurobiology and Psychiatry, Department of Psychiatry, University of California at San Francisco, San Francisco, CA 94143 0984, USA
    Genes Brain Behav 2:255-67. 2003
    ..Furthermore, the model suggests potential therapeutic interventions...
  24. pmc Advances in autism genetics: on the threshold of a new neurobiology
    Brett S Abrahams
    Neurology Department, and Semel Institute for Neuroscience and Behaviour, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California 90095 1769 USA
    Nat Rev Genet 9:341-55. 2008
    ..Systems biology approaches, including array-based expression profiling, are poised to provide additional insights into this group of disorders, in which heterogeneity, both genetic and phenotypic, is emerging as a dominant theme...
  25. pmc Shank3 mutant mice display autistic-like behaviours and striatal dysfunction
    Joao Peca
    Department of Neurobiology, Duke University Medical Center, Durham, North Carolina 27710, USA
    Nature 472:437-42. 2011
    ..Our findings demonstrate a critical role for SHANK3 in the normal development of neuronal connectivity and establish causality between a disruption in the Shank3 gene and the genesis of autistic-like behaviours in mice...
  26. ncbi Neuroanatomic observations of the brain in autism: a review and future directions
    Margaret L Bauman
    Children s Neurology Service, Massachusetts General Hospital, 15 Parkman Street, Boston, MA 02114, USA
    Int J Dev Neurosci 23:183-7. 2005
    ..These findings combined with reported age-related changes in brain weight and volume, have raised the possibility that the neuropathology of autism may represent an on-going process...
  27. ncbi Understanding the nature of face processing impairment in autism: insights from behavioral and electrophysiological studies
    Geraldine Dawson
    University of Washington Autism Center, University of Washington, Seattle 98195, USA
    Dev Neuropsychol 27:403-24. 2005
    ..This article discusses implications for intervention...
  28. pmc AutDB: a gene reference resource for autism research
    Saumyendra N Basu
    MindSpec Inc, 9656 Blake Lane, Fairfax, VA 22031, USA
    Nucleic Acids Res 37:D832-6. 2009
    ..Our model for consolidated knowledge representation in genetically complex disorders could be replicated to study other such disorders...
  29. pmc Disruption of neurexin 1 associated with autism spectrum disorder
    Hyung Goo Kim
    Molecular Neurogenetics Unit, Center for Human Genetic Research and Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
    Am J Hum Genet 82:199-207. 2008
    ....
  30. ncbi Autism and abnormal development of brain connectivity
    Matthew K Belmonte
    Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge CB2 2AH, United Kingdom
    J Neurosci 24:9228-31. 2004
  31. ncbi Understanding and sharing intentions: the origins of cultural cognition
    Michael Tomasello
    Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany
    Behav Brain Sci 28:675-91; discussion 691-735. 2005
    ..The developmental outcome is children's ability to construct dialogic cognitive representations, which enable them to participate in earnest in the collectivity that is human cognition...
  32. pmc Differences in white matter fiber tract development present from 6 to 24 months in infants with autism
    Jason J Wolff
    Carolina Institute for Developmental Disabilities and the Department of Psychiatry, University of North Carolina, Chapel Hill, USA
    Am J Psychiatry 169:589-600. 2012
    ..The authors prospectively examined white matter fiber tract organization from 6 to 24 months in high-risk infants who developed autism spectrum disorders (ASDs) by 24 months...
  33. ncbi Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
    Igor Splawski
    Department of Cardiology, Children s Hospital, Harvard Medical School and Howard Hughes Medical Institute, Boston, MA 02115, USA
    Cell 119:19-31. 2004
    ..These discoveries establish the importance of Ca(V)1.2 in human physiology and development and implicate Ca(2+) signaling in autism...
  34. pmc Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
    Christelle M Durand
    Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France
    Nat Genet 39:25-7. 2007
    ..These mutations concern only a small number of individuals, but they shed light on one gene dosage-sensitive synaptic pathway that is involved in autism spectrum disorders...
  35. ncbi Functional and anatomical cortical underconnectivity in autism: evidence from an FMRI study of an executive function task and corpus callosum morphometry
    Marcel Adam Just
    Center for Cognitive Brain Imaging, Carnegie Mellon University, Pittsburgh, PA 15213, USA
    Cereb Cortex 17:951-61. 2007
    ..The results add support to a new theory of cortical underconnectivity in autism, which posits a deficit in integration of information at the neural and cognitive levels...
  36. ncbi Developmental deficits in social perception in autism: the role of the amygdala and fusiform face area
    Robert T Schultz
    Yale Child Study Center, 230 S Frontage Road, PO Box 207900, New Haven, CT 06520 7900, USA
    Int J Dev Neurosci 23:125-41. 2005
    ..It is argued that the development of face perception and social cognitive skills are supported by the amygdala-fusiform system, and that deficits in this network are instrumental in causing autism...
  37. pmc Identifying autism loci and genes by tracing recent shared ancestry
    Eric M Morrow
    Division of Genetics, Children s Hospital Boston and Harvard Medical School, Boston, MA 02115, USA
    Science 321:218-23. 2008
    ....
  38. ncbi Sociability and preference for social novelty in five inbred strains: an approach to assess autistic-like behavior in mice
    S S Moy
    North Carolina STAART Center for Autism Research, Neurodevelopmental Disorders Research Center, University of North Carolina School of Medicine, Chapel Hill, NC 27599, USA
    Genes Brain Behav 3:287-302. 2004
    ..This new standardized procedure to quantitate sociability and preference for social novelty in mice provides a method to assess tendencies for social avoidance in mouse models of autism...
  39. ncbi Autistic traits in the general population: a twin study
    John N Constantino
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO 63110, USA
    Arch Gen Psychiatry 60:524-30. 2003
    ....
  40. ncbi A synaptic trek to autism
    Thomas Bourgeron
    Human Genetics and Cognitive Functions, Institut Pasteur, 25 rue du Docteur Roux, 75015 Paris, France
    Curr Opin Neurobiol 19:231-4. 2009
    ..Taken together, these data strongly suggest that abnormal synaptic homeostasis represent a risk factor to ASD...
  41. ncbi Visual fixation patterns during viewing of naturalistic social situations as predictors of social competence in individuals with autism
    Ami Klin
    Yale Child Study Center, Yale University, 230 S Frontage Rd, New Haven, CT 06520, USA
    Arch Gen Psychiatry 59:809-16. 2002
    ..Enhanced ecological validity was intended to maximize between-group effect sizes and assess the predictive utility of experimental variables relative to outcome measures of social competence...
  42. pmc Infant neural sensitivity to dynamic eye gaze is associated with later emerging autism
    Mayada Elsabbagh
    Centre for Brain and Cognitive Development, Birkbeck College, University of London, London WC1E 7HX, UK
    Curr Biol 22:338-42. 2012
    ..ERP responses to eye gaze may help characterize developmental processes that lead to later emerging autism. Findings also elucidate the mechanisms driving the development of the social brain in infancy...
  43. ncbi The genetics of autism
    Rebecca Muhle
    Class of 2004, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Pediatrics 113:e472-86. 2004
    ..affected individuals to mutations of the methyl-CpG-binding protein 2 (MeCP2) gene--the other PDD subtypes (autistic disorder, Asperger disorder, disintegrative disorder, and PDD Not Otherwise Specified [PDD-NOS]) are not linked to ..
  44. ncbi The mirror neuron system and the consequences of its dysfunction
    Marco Iacoboni
    Ahmanson Lovelace Brain Mapping Center, Department of Psychiatry and Biobehavioural Sciences, Neuropsychiatric Institute, Brain Research Institute, David Geffen School of Medicine, University of California, Los Angeles 90095, USA
    Nat Rev Neurosci 7:942-51. 2006
    ..Here, we review the neurophysiology of the mirror neuron system and its role in social cognition and discuss the clinical implications of mirror neuron dysfunction...
  45. ncbi Cortical activation and synchronization during sentence comprehension in high-functioning autism: evidence of underconnectivity
    Marcel Adam Just
    Carnegie Mellon University, Center for Cognitive Brain Imaging, Department of Psychology, Pittsburgh, PA 15213, USA
    Brain 127:1811-21. 2004
    ..The article presents a theoretical account of the findings, related to neurobiological foundations of underconnectivity in autism...
  46. ncbi Enhanced perceptual functioning in autism: an update, and eight principles of autistic perception
    Laurent Mottron
    Pervasive Developmental Disorders Specialized Clinic, Riviere des Prairies Hospital, and Fernand Seguin Research Center, University of Montreal, Canada
    J Autism Dev Disord 36:27-43. 2006
    ..The overfunctioning of brain regions typically involved in primary perceptual functions may explain the autistic perceptual endophenotype...
  47. ncbi Neuron number and size in prefrontal cortex of children with autism
    Eric Courchesne
    Department of Neuroscience, NIH UCSD Autism Center of Excellence, School of Medicine, University of California San Diego, La Jolla, CA 92093, USA
    JAMA 306:2001-10. 2011
    ..Autism often involves early brain overgrowth, including the prefrontal cortex (PFC). Although prefrontal abnormality has been theorized to underlie some autistic symptoms, the cellular defects that cause abnormal overgrowth remain unknown...
  48. pmc Consensus paper: pathological role of the cerebellum in autism
    S Hossein Fatemi
    University of Minnesota Medical School, 420 Delaware St SE, Minneapolis, MN 55455, USA
    Cerebellum 11:777-807. 2012
    ....
  49. ncbi Brain growth across the life span in autism: age-specific changes in anatomical pathology
    Eric Courchesne
    Department of Neuroscience, Autism Center of Excellence, University of California, San Diego, CA, USA
    Brain Res 1380:138-45. 2011
    ....
  50. ncbi The autistic neuron: troubled translation?
    Raymond J Kelleher
    Center for Human Genetic Research, Harvard Partners Center for Genetics and Genomics, Massachusetts General Hospital, Program in Neuroscience and Department of Neurology, Harvard Medical School, Boston, MA 02115, USA
    Cell 135:401-6. 2008
    ..We propose that aberrant synaptic protein synthesis may represent one possible pathway leading to autistic phenotypes, including cognitive impairment and savant abilities...
  51. pmc X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family
    Frederic Laumonnier
    INSERM U619 Génétique de l Autisme et de la Déficience Mentale, CHU Bretonneau, Tours, France
    Am J Hum Genet 74:552-7. 2004
    ..retarded males suggests that the NLGN4 gene is not only involved in autism, as previously described, but also in mental retardation, indicating that some types of autistic disorder and mental retardation may have common genetic origins.
  52. ncbi Psychiatric disorders in children with autism spectrum disorders: prevalence, comorbidity, and associated factors in a population-derived sample
    Emily Simonoff
    Department of Child and Adolescent Psychiatry, Institute of Psychiatry, King s College London, De Crespigny Park, London SE5 8AF, UK
    J Am Acad Child Adolesc Psychiatry 47:921-9. 2008
    ..We identify the rates and type of psychiatric comorbidity associated with ASDs and explore the associations with variables identified as risk factors for child psychiatric disorders...
  53. ncbi Executive dysfunction in autism
    Elisabeth L Hill
    Department of Psychology, Goldsmiths College, University of London, Whitehead Building, New Cross, London SE14 6NW, UK
    Trends Cogn Sci 8:26-32. 2004
    ..It is concluded that more detailed research is needed to fractionate the executive system in autism by assessing a wide range of executive functions as well as their neuroanatomical correlates in the same individuals across the lifespan...
  54. pmc Structural variation of chromosomes in autism spectrum disorder
    Christian R Marshall
    The Centre for Applied Genomics, The Hospital for Sick Children, Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario M5G 1L7, Canada
    Am J Hum Genet 82:477-88. 2008
    ..Structural variants were found in sufficiently high frequency influencing ASD to suggest that cytogenetic and microarray analyses be considered in routine clinical workup...
  55. pmc Metabolic imbalance associated with methylation dysregulation and oxidative damage in children with autism
    Stepan Melnyk
    Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA
    J Autism Dev Disord 42:367-77. 2012
    ..Further, these results suggest a plausible mechanism by which pro-oxidant environmental stressors may modulate genetic predisposition to autism...
  56. pmc Relative burden of large CNVs on a range of neurodevelopmental phenotypes
    Santhosh Girirajan
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, United States of America
    PLoS Genet 7:e1002334. 2011
    ..When autism without ID was considered separately, the increase in CNV burden was modest compared to controls (p = 0.07, odds ratio = 2.33)...
  57. ncbi Abnormal ventral temporal cortical activity during face discrimination among individuals with autism and Asperger syndrome
    R T Schultz
    Child Study Center, Yale University, New Haven, Conn 06520 7900, USA
    Arch Gen Psychiatry 57:331-40. 2000
    ..Therefore, it is of considerable interest that individuals with autism and related conditions have selective deficits in face recognition (sparing nonface object recognition)...
  58. pmc Global prevalence of autism and other pervasive developmental disorders
    Mayada Elsabbagh
    Department of Psychiatry, Montreal Children s Hospital, Montreal, Canada Birkbeck, University of London, London, UK
    Autism Res 5:160-79. 2012
    We provide a systematic review of epidemiological surveys of autistic disorder and pervasive developmental disorders (PDDs) worldwide...
  59. pmc The social motivation theory of autism
    Coralie Chevallier
    Center for Autism Research, Children s Hospital of Philadelphia, 3535 Market Street, Philadelphia, PA 19104, USA
    Trends Cogn Sci 16:231-9. 2012
    ..We conclude that ASD can be construed as an extreme case of diminished social motivation and, as such, provides a powerful model to understand humans' intrinsic drive to seek acceptance and avoid rejection...
  60. ncbi Evidence of brain overgrowth in the first year of life in autism
    Eric Courchesne
    Department of Neuroscience, School of Medicine, University of California, San Diego, La Jolla, USA
    JAMA 290:337-44. 2003
    ..This raises the possibility that brain overgrowth begins much earlier, perhaps before the first clinically noticeable behavioral symptoms...
  61. pmc Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
    Stephane Jamain
    Laboratoire de génétique humaine et fonctions cognitives, Universite Paris 7, Institut National de la Santé et la Recherche Médicale E0021, 75015 Paris, France
    Nat Genet 34:27-9. 2003
    ..These mutations affect cell-adhesion molecules localized at the synapse and suggest that a defect of synaptogenesis may predispose to autism...
  62. ncbi Levels of emotional awareness and autism: an fMRI study
    Giorgia Silani
    University College London, London, UK
    Soc Neurosci 3:97-112. 2008
    ....
  63. ncbi Early social attention impairments in autism: social orienting, joint attention, and attention to distress
    Geraldine Dawson
    Department of Psychology, Center on Human Development and Disability, University of Washington, Seattle, WA, USA
    Dev Psychol 40:271-83. 2004
    ..These results help to clarify the nature of social attention impairments in autism, offer clues to developmental mechanisms, and suggest targets for early intervention...
  64. ncbi When the social mirror breaks: deficits in automatic, but not voluntary, mimicry of emotional facial expressions in autism
    Daniel N McIntosh
    Department of Psychology, University of Denver, CO 80208, USA
    Dev Sci 9:295-302. 2006
    ..The data suggest that autism is associated with an impairment of a basic automatic social-emotion process. Results have implications for understanding typical and atypical social cognition...
  65. pmc Two-year-olds with autism orient to non-social contingencies rather than biological motion
    Ami Klin
    Yale Child Study Center, Yale University School of Medicine, New Haven, Connecticut 06519 1124, USA
    Nature 459:257-61. 2009
    ..This observation has far-reaching implications for understanding the altered neurodevelopmental trajectory of brain specialization in autism...
  66. ncbi White matter structure in autism: preliminary evidence from diffusion tensor imaging
    Naama Barnea-Goraly
    Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, 401 Quarry Road, Stanford, CA 94305, USA
    Biol Psychiatry 55:323-6. 2004
    ..Prior studies have suggested that abnormal connections between brain regions important for social cognition may contribute to the social deficits seen in autism...
  67. ncbi Unusual brain growth patterns in early life in patients with autistic disorder: an MRI study
    E Courchesne
    Department of Neuroscience, School of Medicine, University of California, San Diego, La Jolla, USA
    Neurology 57:245-54. 2001
    ..To quantify developmental abnormalities in cerebral and cerebellar volume in autism...
  68. pmc Genomic and epigenetic evidence for oxytocin receptor deficiency in autism
    Simon G Gregory
    Duke Center for Human Genetics, DUMC, Durham, NC, USA
    BMC Med 7:62. 2009
    ..Although numerous approaches have been used to identify genes implicated in the development of autism, less than 10% of autism cases have been attributed to single gene disorders...
  69. ncbi The amygdala theory of autism
    S Baron-Cohen
    Departments of Experimental Psychology and Psychiatry, University of Cambridge, Downing Street, Cambridge, UK
    Neurosci Biobehav Rev 24:355-64. 2000
    ..The amygdala is therefore proposed to be one of several neural regions that are abnormal in autism. We conclude that the amygdala theory of autism contains promise and suggest some new lines of research...
  70. ncbi Elevated cytokine levels in children with autism spectrum disorder
    Cynthia A Molloy
    Center for Epidemiology and Biostatistics, Cincinnati Children s Hospital Medical Center, and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229 3039, United States
    J Neuroimmunol 172:198-205. 2006
    ..Cases had significantly higher IL-13/IL-10 and IFN-gamma/IL-10 than controls...
  71. ncbi Glutamic acid decarboxylase 65 and 67 kDa proteins are reduced in autistic parietal and cerebellar cortices
    S Hossein Fatemi
    Department of Psychiatry, Division of Neuroscience Research, University of Minnesota Medical School, 420 Delaware Street SE, Mayo Building, Box 392, Minneapolis, MN 55455, USA
    Biol Psychiatry 52:805-10. 2002
    ..To further investigate these studies, brain levels of rate limiting enzyme, glutamic acid decarboxylase, which is responsible for normal conversion of glutamate to gamma amino butyric acid in the brain, were investigated...
  72. ncbi A big-world network in ASD: dynamical connectivity analysis reflects a deficit in long-range connections and an excess of short-range connections
    Pablo Barttfeld
    Integrative Neuroscience Laboratory, Physics Department, University of Buenos Aires, Buenos Aires, Argentina
    Neuropsychologia 49:254-63. 2011
    ..Together these results show that delta-band coherence reveal qualitative and quantitative aspects associated with ASD pathology...
  73. ncbi Visual scanning of faces in autism
    Kevin A Pelphrey
    Department of Psychology, UNC Neurodevelopmental Disorders Research Center, University of North Carolina at Chapel Hill, NC, USA
    J Autism Dev Disord 32:249-61. 2002
    ..Collectively, these results indicate disorganized processing of face stimuli in autistic individuals and suggest a mechanism that may subserve the social information processing deficits that characterize autism spectrum disorders...
  74. pmc The genetics of child psychiatric disorders: focus on autism and Tourette syndrome
    Matthew W State
    Department of Child Psychiatry, Yale University School of Medicine, New Haven, CT 06510, USA
    Neuron 68:254-69. 2010
    ....
  75. ncbi Diffusion tensor imaging of the corpus callosum in Autism
    Andrew L Alexander
    Department of Medical Physics, University of Wisconsin, Madison, WI, USA
    Neuroimage 34:61-73. 2007
    ..These results suggest that the microstructure of the corpus callosum is affected in autism, which may be related to nonverbal cognitive performance...
  76. ncbi Functional connectivity in a baseline resting-state network in autism
    Vladimir L Cherkassky
    Center for Cognitive Brain Imaging, Department of Psychology, Carnegie Mellon University, Pittsburgh, Pennsylvania 15213, USA
    Neuroreport 17:1687-90. 2006
    ..This functional underconnectivity was observed in the anterior-posterior connections. The results expand the theory of cortical underconnectivity in autism to the resting state of the brain...
  77. pmc Toward fulfilling the promise of molecular medicine in fragile X syndrome
    Dilja D Krueger
    The Picower Institute for Learning and Memory, Howard Hughes Medical Institute, Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA
    Annu Rev Med 62:411-29. 2011
    ..The insights gained from FXS and other autism-related single-gene disorders may also assist in identifying molecular mechanisms and potential treatment approaches for idiopathic autism...
  78. pmc Shared heritability of attention-deficit/hyperactivity disorder and autism spectrum disorder
    Nanda N J Rommelse
    Department of Psychiatry, Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Reinier Postlaan 10, Nijmegen, The Netherlands
    Eur Child Adolesc Psychiatry 19:281-95. 2010
    ..Multivariate multi-level models are probably best suited for the statistical analysis...
  79. ncbi Prevalence of autism-spectrum conditions: UK school-based population study
    Simon Baron-Cohen
    University of Cambridge, Autism Research Centre, Department of Psychiatry, Douglas House, 18b Trumpington Road, Cambridge CB2 8AH, UK
    Br J Psychiatry 194:500-9. 2009
    ..Recent reports estimate the prevalence of autism-spectrum conditions in the UK to be 1%...
  80. ncbi Epidemiology of pervasive developmental disorders
    Eric Fombonne
    Department of Psychiatry, Montreal Children s Hospital of the McGill University Health Centre, Montreal, Quebec, Canada
    Pediatr Res 65:591-8. 2009
    ..since 1966 that provided estimates for the prevalence of pervasive developmental disorders (PDDs), including autistic disorder, Asperger disorder, PDD not otherwise specified, and childhood disintegrative disorder...
  81. pmc Behavioural phenotyping assays for mouse models of autism
    Jill L Silverman
    National Institute of Mental Health, Porter Neuroscience Research Center, Bethesda, MD 20892 3730, USA
    Nat Rev Neurosci 11:490-502. 2010
    ..Robust phenotypes in mouse models hold great promise as translational tools for discovering effective treatments for components of autism spectrum disorders...
  82. ncbi Autism, Asperger syndrome and brain mechanisms for the attribution of mental states to animated shapes
    Fulvia Castelli
    Institute of Cognitive Neuroscience, University College London, UK
    Brain 125:1839-49. 2002
    ..This finding suggests a physiological cause for the mentalizing dysfunction in autism: a bottleneck in the interaction between higher order and lower order perceptual processes...
  83. pmc Autism
    Susan E Levy
    Children s Hospital of Philadelphia, University of Pennsylvania, School of Medicine, Center for Autism Research, Philadelphia, PA 19104, USA
    Lancet 374:1627-38. 2009
    ..Further knowledge about early identification, neurobiology of autism, effective treatments, and the effect of this disorder on families is needed...
  84. ncbi Identification and evaluation of children with autism spectrum disorders
    Chris Plauché Johnson
    Pediatrics 120:1183-215. 2007
    ....
  85. ncbi Copy-number variations associated with neuropsychiatric conditions
    Edwin H Cook
    Institute for Juvenile Research, Department of Psychiatry, University of Illinois, 1747 West Roosevelt Road, Chicago, Illinois 60608, USA
    Nature 455:919-23. 2008
    ..The complexity of neuropsychiatric genetics, however, dictates that assessment of the biomedical relevance of copy-number variants and the genes that they affect needs to be considered in an integrated context...
  86. pmc The role of immune dysfunction in the pathophysiology of autism
    Charity Onore
    Department of Medical Microbiology and Immunology, University of California, Davis, CA, USA
    Brain Behav Immun 26:383-92. 2012
    ....
  87. ncbi The epidemiology of autism spectrum disorders
    Craig J Newschaffer
    Department of Epidemiology and Biostatistics, Drexel University School of Public Health, Philadelphia, PA 19102, USA
    Annu Rev Public Health 28:235-58. 2007
    ....
  88. ncbi Getting answers from babies about autism
    Mayada Elsabbagh
    Centre for Brain and Cognitive Development, Birkbeck, University of London, Henry Wellcome Building, London, WC1E 7HX, UK
    Trends Cogn Sci 14:81-7. 2010
    ..As the search for early markers continues, infants at-risk present a persuasive model for gene by environment interactions leading to variable developmental pathways...
  89. ncbi Metabolic biomarkers of increased oxidative stress and impaired methylation capacity in children with autism
    S Jill James
    Department of Pediatrics, University of Arkansas for Medical Sciences, and the Arkansas Children s Hospital Research Institute, Little Rock, AR 72202, USA
    Am J Clin Nutr 80:1611-7. 2004
    ..Although abnormal metabolism of methionine and homocysteine has been associated with other neurologic diseases, these pathways have not been evaluated in persons with autism...
  90. pmc Cellular and mitochondrial glutathione redox imbalance in lymphoblastoid cells derived from children with autism
    S Jill James
    Department of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children s Hospital Research Institute, 1120 Marshall St, Little Rock, AR 72202, USA
    FASEB J 23:2374-83. 2009
    ..These results suggest that the autism LCLs exhibit a reduced glutathione reserve capacity in both cytosol and mitochondria that may compromise antioxidant defense and detoxification capacity under prooxidant conditions...
  91. ncbi SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function
    Anna Fassio
    Department of Experimental Medicine, National Institute of Neuroscience, University of Genova, Viale Benedetto XV 3, 16132 Genova, Italy
    Hum Mol Genet 20:2297-307. 2011
    ..These results demonstrate that SYN1 is a novel predisposing gene to ASDs, in addition to epilepsy, and strengthen the hypothesis that a disturbance of synaptic homeostasis underlies the pathogenesis of both diseases...
  92. pmc Early brain overgrowth in autism associated with an increase in cortical surface area before age 2 years
    Heather Cody Hazlett
    Department of Psychiatry, The Carolina Institute for Developmental Disabilities, University of North Carolina, Chapel Hill, NC 27599, USA
    Arch Gen Psychiatry 68:467-76. 2011
    ..Brain enlargement has been observed in 2-year-old children with autism, but the underlying mechanisms are unknown...
  93. pmc Mitochondrial dysfunction in autism
    Cecilia Giulivi
    University of California, School of Veterinary Medicine, Department of Molecular Biosciences, One Shields Avenue, 1120 Haring Hall, Davis, CA 95616, USA
    JAMA 304:2389-96. 2010
    ..No studies have evaluated mitochondrial dysfunction and mitochondrial DNA (mtDNA) abnormalities in a well-defined population of children with autism...
  94. ncbi Short-term benefit from oral vancomycin treatment of regressive-onset autism
    R H Sandler
    Section of Pediatric Gastroenterology and Nutrition, Rush Children s Hospital, Rush Medical College, Chicago, IL 60612, USA
    J Child Neurol 15:429-35. 2000
    ....
  95. ncbi Prevalence of serum antibodies to caudate nucleus in autistic children
    Vijendra K Singh
    Department of Biology, Biotechnology Center Building, Utah State University, 4700 Old Main Hill, Logan, UT 84322 4700, USA
    Neurosci Lett 355:53-6. 2004
    ..Thus, the caudate nucleus might be involved in the neurobiology of autism...
  96. pmc Common genetic variants on 5p14.1 associate with autism spectrum disorders
    Kai Wang
    Center for Applied Genomics, Children s Hospital of Philadelphia, Pennsylvania 19104, USA
    Nature 459:528-33. 2009
    ..Our results implicate neuronal cell-adhesion molecules in the pathogenesis of ASDs, and represent, to our knowledge, the first demonstration of genome-wide significant association of common variants with susceptibility to ASDs...
  97. ncbi Validation of a brief quantitative measure of autistic traits: comparison of the social responsiveness scale with the autism diagnostic interview-revised
    John N Constantino
    Department of Psychiatry, Washington University School of Medicine, Saint Louis, Missouri 63110, USA
    J Autism Dev Disord 33:427-33. 2003
    ..Q. and exhibited inter-rater reliability on the order of 0.8. The SRS is a valid quantitative measure of autistic traits, feasible for use in clinical settings and for large-scale research studies of autism spectrum conditions...
  98. pmc The genetics of autism: key issues, recent findings, and clinical implications
    Paul El-Fishawy
    Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA
    Psychiatr Clin North Am 33:83-105. 2010
    ..This article reviews the origins of the common versus rare variant debate, highlights recent findings in the field, and addresses the clinical implications of common and rare variant discoveries...
  99. ncbi Metabolic biomarkers related to oxidative stress and antioxidant status in Saudi autistic children
    Y Al-Gadani
    Biochemistry Department, Science College, King Saud University, PO Box 22452, Zip code 11495, Riyadh, Saudi Arabia
    Clin Biochem 42:1032-40. 2009
    ..Measurement of oxidative stress and antioxidant-related parameters (enzymatic and non-enzymatic) in Saudi autistic children...
  100. ncbi Sex differences in the brain: implications for explaining autism
    Simon Baron-Cohen
    Autism Research Centre, Cambridge University, Department of Psychiatry, Douglas House, 18b Trumpington Road, Cambridge CB2 2AH, UK
    Science 310:819-23. 2005
    ..Here we suggest that specific aspects of autistic neuroanatomy may also be extremes of typical male neuroanatomy...
  101. ncbi Oxidative stress in Egyptian children with autism: relation to autoimmunity
    Gehan A Mostafa
    Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo, Egypt
    J Neuroimmunol 219:114-8. 2010
    ..5% of autistic children, (odds ratio: 12.38 and 6.43, respectively, confidence interval: 1.37-112.10 and 1.21-34.19, respectively)...

Research Grants78

  1. Glutamate receptor recruitment to new synapses in vivo
    PHILIP ERIC WASHBOURNE; Fiscal Year: 2013
    ..Our research will help understand the mechanisms by which synapses form and bring us closer to identifying the molecular deficits in individuals with autism and mental retardation. ..
  2. Chemical modulators of Tet-family proteins
    Anjana Rao; Fiscal Year: 2010
    ..These molecules will be useful for further investigations into the biological functions of TET proteins, and may eventually be used in the clinic to treat Rett syndrome and other diseases of DNA methylation. ..
  3. Environmental Risk Factors for Copy Number Variation in Human Chromosomes
    THOMAS EDWARD WILSON; Fiscal Year: 2010
    ....
  4. Mechanisms of Bone Loss from Administration of the Second-Generation Antipsychoti
    KATHERINE JEAN MOTYL; Fiscal Year: 2013
    ..My results will also add to the increasing evidence for a key role of the nervous system in regulating skeletal homeostasis. ..
  5. A Computational Framework for Mapping Long Range Genetic Circuits
    Tolga Tasdizen; Fiscal Year: 2010
    ..This knowledge will provide insights into new drug targets to prevent, treat, and ultimately cure mental illness. ..
  6. KINETICS OF DRUG MACROMOLECULE COMPLEX FORMATION
    PALMER WILLIAM TAYLOR; Fiscal Year: 2013
    ....
  7. Serotonin transporter-mediated regulation of neuroendocrine exocytosis
    KEVIN P CURRIE; Fiscal Year: 2013
    ..This will provide the foundation for future expanded applications to investigate a new paradigm for 5HT / SERT mediated signal transduction. ..
  8. Ephrin-A3 in Neuron-Glia Communication
    Elena B Pasquale; Fiscal Year: 2011
    ..Strategies to manipulate ephrin function in glial cells could help treatment of neurological disorders involving aberrant neuron-glia interactions in the hippocampus and other regions of the nervous system. ..
  9. Connexins in Neuronal and Glial Gap Junctions in the Central Nervous System
    John E Rash; Fiscal Year: 2012
    ..normal human cerebral cortex and hippocampus. These data will serve as a prelude to measuring changes in these structures in human disease such as epilepsy, schizophrenia, Parkinson's disease, and autism spectral disorders. ..
  10. Epidemiological Research on Autism in Jamaica
    Mohammad H Rahbar; Fiscal Year: 2010
    ....
  11. Derivation of cerebral cortical GABAergic interneurons from human iPS cells
    Lorenz P Studer; Fiscal Year: 2010
    ....
  12. Molecular physiology of voltage-gated Ca2+ channels
    Jian Yang; Fiscal Year: 2013
    ..By studying a novel form of activity-dependent fragmentation of VGCCs on the cell membrane, this work may lead to a better understanding of VGCC function and regulation in physiological and pathological conditions. ..
  13. Serotonin, Autism, and investigating cell types for CNS disorders.
    Joseph D Dougherty; Fiscal Year: 2010
    ..The approach proposed here has the potential to provide those cellular targets for treatments. ..
  14. In vivo targeted gene silencing, a novel method
    WILLIAM ANTHONY TRUITT; Fiscal Year: 2012
    ..To overcome this problem we plan to develop a novel method of in vivo targeted delivery of PNAs and demonstrate the feasibility of using these compounds in an animal model. ..
  15. Analysis of the tumor suppressor gene Tsc1 in motor neuron patterning
    Onanong Chivatakarn; Fiscal Year: 2013
    ....
  16. Chemical approaches for studying the biology of CD38
    Hening Lin; Fiscal Year: 2013
    ..Our proposed study will help to understand the roles of CD38 plays in normal and pathological conditions, and potentially lead to new ways to treat human diseases involving CD38. ..
  17. Developmental Regulation of Brain and Behavior
    JULI S WADE; Fiscal Year: 2011
    ....
  18. Epidemiological Research on Autism in Jamaica - Phase II
    Mohammad H Rahbar; Fiscal Year: 2013
    ....
  19. Function and Structure Adaptations in Forebrain Development
    PAT R LEVITT; Fiscal Year: 2013
    ..This project includes basic and clinical translational studies that will provide insight into gene- gene and gene-environment interactions that may underlie atypical brain functions in ASD. ..
  20. Development and Regulation of Cholinergic Synapses
    Andres Villu Maricq; Fiscal Year: 2013
    ....
  21. Epigenome Mapping in Cortical Interneurons
    Schahram Akbarian; Fiscal Year: 2013
    ....
  22. Subunit dependent properties of kainate receptors
    David D Mott; Fiscal Year: 2013
    ..A better understanding of kainate receptor properties is essential in the rational development of novel therapeutic agents targeted at these receptors. ..
  23. Mechanisms and Therapeutics for Rett Syndrome
    Mriganka Sur; Fiscal Year: 2013
    ..Since IGF1 is FDA-approved for clinical use in children with growth failure, this study represents a valid approach for a therapeutic intervention on RTT patients. ..
  24. Activity-dependent phosphorylation of MeCP2
    DANIEL HIGGINS EBERT; Fiscal Year: 2013
    ..Improved understanding of the mechanism of MeCP2 function may guide the development of new treatments for these disorders in the future. ..
  25. NATIONAL CHILDREN'S STUDY SUPPORT
    Betty Wood; Fiscal Year: 2012
    ..Study researchers seek to enroll prospective mothers to start this large observational study. ..
  26. NATIONAL CHILDREN'S STUDY SUPPORT
    Betty Wood; Fiscal Year: 2011
    ..Study researchers seek to enroll prospective mothers to start this large observational study. ..
  27. NATIONAL CHILDREN'S STUDY -CLINICAL BIOLOGICAL ANALYSIS
    VELAZQUEZ FRANCISCO; Fiscal Year: 2011
    ..Study researchers seek to enroll prospective mothers to start this large observational study. ..
  28. NATIONAL CHILDREN'S STUDY SUPPORT
    Betty Wood; Fiscal Year: 2013
    ..Study researchers seek to enroll prospective mothers to start this large observational study. ..
  29. microRNA analysis of neurons generated from patient-specific iPSCs
    Herbert M Lachman; Fiscal Year: 2013
    ..Such common pathways would be ideal targets for medication development that could be effective in a large subgroup of patients. ..
  30. Functionally Significant Polymorphisms in Serotonin Pathway Genes
    Beverly H Koller; Fiscal Year: 2010
    ..These mice can be used to study the impact of this polymorphism on gene expression, protein function, development, and on the behavioral tests/models known to be sensitive to alterations in this specific pathway in rodents. ..
  31. Regulation of 22q11 Genes in Embroyonic and Adult Forebrain
    Anthony S LaMantia; Fiscal Year: 2013
    ..Thus, our studies help explain how a specific mutation can lead to changes in brain development and function that may underlie autism, mental retardation, ADHD, mood disorders and schizophrenia. ..
  32. MRDD Research Center
    KARL PFENNINGER; Fiscal Year: 2009
    ..Strategic planning has led the investigators to initiate a series of hires, principally in basic neurosciences, and has led to considerable enhancement of cores. ..
  33. Identifying Biomarkers for Post-Partum Depression in African-American Women
    Patrick F Sullivan; Fiscal Year: 2013
    ..Future research could evaluate whether a biomarker signature is of predictive utility and, if so, rational primary prevention may become feasible. ..
  34. Genetic Interactions and Synthetic Population Biology
    Michael B Elowitz; Fiscal Year: 2013
    ..These fundamental issues are critical for understanding the link between population genetics and the observed complex disease phenotypes, and are thus central to the development of genomic medicine. ..
  35. The Role of Alternative Splicing Factor Sfrs10 in Neural Development
    Rahul N Kanadia; Fiscal Year: 2010
    ....
  36. Thyroid hormone-dependent DNA methylation in the developing brain
    Yasuhiro Kyono; Fiscal Year: 2012
    ..Such understanding can contribute to the prevention, diagnosis and treatment of human neurological conditions such as mental retardation, autism spectrum disorder and schizophrenia. ..
  37. Structural determinants of DTI observations in developing cortex and white matter
    Christopher D Kroenke; Fiscal Year: 2013
    ..We will also use this experimental strategy to expand the capabilities of MRI to studies of earlier stages of brain development. ..
  38. Genetic Regulation of Rhombomere Formation
    CHARLES G SAGERSTROM; Fiscal Year: 2013
    ..g. hematopoiesis). The results from our proposed experiments will therefore be applicable to a broad set of biological processes and human disease conditions. ..
  39. CRCNS: Gamma Rhythms and Cell Assemblies
    Nancy Kopell; Fiscal Year: 2013
    ..Finally, the specific project will also help train two graduate students and a postdoctoral fellow. ..
  40. Molecular and cellular mechanism of Microcephaly
    Arnold Kriegstein; Fiscal Year: 2013
    ....
  41. DETERMINATION OF NEURONAL FATES IN VISUAL CORTEX
    Susan K McConnell; Fiscal Year: 2013
    ..The goals of our research are to identify the genes that regulate neurogenesis in the visual cortex and to understand how they affect the formation of cortical circuitry. ..
  42. Experience-Dependent Redeployment of MeCP2 Across the Mouse Genome
    Qiang Chang; Fiscal Year: 2011
    ..Furthermore, because of the considerable overlap in clinical features between RTT and autistic spectrum disorders, the lessons learned studying RTT might also benefit the general understanding of autism. ..
  43. CRCNS: Theory and experiment of neural circuit mapping by DNA sequencing
    Anthony M Zador; Fiscal Year: 2013
    ..It is hard, if not impossible, to identify a medical condition involving the nervous system that would not affect neuronal connections. ..
  44. Environmental and genetic regulation of copy number variation (CNV)
    THOMAS PETES; Fiscal Year: 2010
    ..During the past few years, it has become increasingly clear that copy number variation (CNV) is associated with many human diseases. Thus, factors that elevate the rate of CNV are likely to elevate the frequency of those diseases. ..
  45. 2012 Fragile X and Autism-Related Disorders: From Basic Neuroscience to Improved
    ELIZABETH MARA BERRY-KRAVIS; Fiscal Year: 2012
    ....
  46. Epidemiology of testicular cancer in the Utah population
    Mia Hashibe; Fiscal Year: 2012
    ..We will also study the prognosis of testicular cancer patients and examine what factors affect prognosis. Our results will be relevant for public health planning of prevention efforts against testicular cancer in Utah. ..
  47. Longitudinal Studies of Autism Spectrum Disorders: 2 to 23
    Catherine Lord; Fiscal Year: 2012
    ..This project will provide information that will be useful in developing new ways to improve quality of life for individuals with ASD and their families. ..
  48. Aptamer probes for Epigenetic Peptide Targets
    MARK PATRICK MCPIKE; Fiscal Year: 2010
    ..Unlike genetic aberrations, epigenetic changes are potentially reversible by modulating the activities of the enzymes that stabilize or remodel the packing of DNA in chromosomes. ..
  49. Foxp2 regulation of sex specific transcriptional pathways and brain development
    JERALD MICHAEL BOWERS; Fiscal Year: 2013
    ..For the R00 phase, I will write up the research collected from Aims 1.2 and Aims 2.1 and 2.1. I will then begin setting up my lab. Concurrent with opening the lab, I will begin work on Aim 3. ..
  50. RAX, PKR and ethanol neurotoxicity
    Gang Chen; Fiscal Year: 2013
    ..Specific Aim 3: To determine whether RAX+/- mice, N-PKR-/- mice or PKR-inhibitor-injected mice are more resistant to ethanol-induced cerebellar behavioral dysfunction. ..
  51. NATIONAL CHILDREN'S STUDY
    William Hogan; Fiscal Year: 2013
    ..The Study is the largest long-term study of children's health ever conducted in the United States. Specific Aims: ..
  52. Novel lead molecule optimization targeting nicotinic receptor subtypes
    DENNIS BRIAN contact MCKAY; Fiscal Year: 2010
    ....
  53. SUPPORT OF THE NATIONAL CHILDREN'S STUDY INFORMATION SYSTEM
    JAMES TER MAAT; Fiscal Year: 2012
    ..The National Children's Study has initiated recruitment at 30 study locations around the United States. The Study is the largest long-term study of children's health ever conducted in the United States. ..
  54. NATIONAL CHILDREN'S STUDY
    DANA DABALEA; Fiscal Year: 2012
    ..The National Children's Study has initiated recruitment at 30 study locations around the United States. The Study is the largest long-term study of children's health ever conducted in the United States. ..
  55. NATIONAL CHILDREN'S STUDY BIOMEDICAL (APPLIED/EXPLORATORY)
    Lee Smith; Fiscal Year: 2012
    ..The National Children's Study has initiated recruitment at 30 study locations around the United States. The Study is the largest long-term study of children's health ever conducted in the United States. ..
  56. NATIONAL CHILDREN'S STUDY
    Helen Koo; Fiscal Year: 2013
    ..The National Children's Study has initiated recruitment at 30 study locations around the United States. The Study is the largest long-term study of children's health ever conducted in the United States. ..
  57. NATIONAL CHILDREN'S STUDY
    Helen Koo; Fiscal Year: 2012
    ..The National Children's Study has initiated recruitment at 30 study locations around the United States. The Study is the largest long-term study of children's health ever conducted in the United States. ..
  58. NATIONAL CHILDREN'S STUDY
    Kristina Lewis; Fiscal Year: 2013
    ..The National Children's Study has initiated recruitment at 30 study locations around the United States. The Study is the largest long-term study of children's health ever conducted in the United States. ..
  59. GUIDING VISUAL ATTENTION TO ENHANCE DISCRIMINATION LEARNING
    Michael T Carlin; Fiscal Year: 2011
    ..Existing literature, though limited, implies that these populations would be expected to perform quite differently on these tasks. Further, our use of reaction time (RT) and eye-tracking measures of ..
  60. DEFINITION AND DEVELOPMENT OF THE PHENOTYPE IN AUTISM
    Sally Rogers; Fiscal Year: 2001
    ....
  61. Pupil Size and Circadian Salivary Variations in Autism Spectrum Disorder
    JOHN A COLOMBO; Fiscal Year: 2010
    ....
  62. GENOTYPE AND PHENOTYPE OF BRAINSTEM INJURY IN AUTISM
    Patricia Rodier; Fiscal Year: 2002
    ..The goal is to determine whether the phenotypic or genotypic features of these disorders indicate a common etiology. ..
  63. RNA-Seq studies of Gene Expression in Cells and Networks in FI and ACC in Autism
    Barbara J Wold; Fiscal Year: 2010
    ..We propose to use laser micro-dissection to investigate gene expression in specific neuronal and non-neuronal populations in the cortical areas of interest in the autism-A, autism-B and control groups. ..
  64. Improving and Streamlining Screening and Diagnosis of ASD at 18-24 Months of Age
    Amy M Wetherby; Fiscal Year: 2010
    ..By improving and streamlining early screening and diagnosis of ASD in 18 to 24 month old children, the findings of this study will have important implications for earlier access to intervention. ..
  65. GENOTYPE AND PHENOTYPE OF BRAINSTEM INJURY IN AUTISM
    Patricia Rodier; Fiscal Year: 2007
    ..This project is closely related to the gene-environment studies proposed in animals. ..
  66. TrkB Agonist(s), a Potential Therapy for Autism Spectrum Disorders
    Yi Eve Sun; Fiscal Year: 2010
    ..In this application, we hypothesize that activation of BDNF signaling through small molecule TrkB agonist(s) may benefit not only RTT but also other ASDs. ..
  67. Genetic Susceptibility to Mercury-Induced Immune Dysfunction in Autism & ASD
    Ellen Silbergeld; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  68. Treatment as usual and peer engagement in teens with High Functioning Autism
    Felice Orlich; Fiscal Year: 2010
    ..and related disorders may be as high as 1 in 150 children with nationwide estimates of the overall costs of Autistic disorder to society approaching $90 billion;with nearly 90% of those costs in adult services...
  69. High-resolution diffusion tensor imaging in mouse models relevant to autism
    Harish Poptani; Fiscal Year: 2010
    ....
  70. A Sex-Specific Dissection of Autism Genetics
    LAUREN ANNE WEISS; Fiscal Year: 2010
    ..With better understanding of the biological basis and the genetic architecture of autism, diagnosis, prognosis, prevention and treatment options could be improved. ..
  71. Community Skills Video Game for Children with Autism
    AMY MAGUIRE; Fiscal Year: 2005
    ..Social relevance to parents and professionals will be examined with a survey. This Phase I feasibility study will provide the foundation for Phase II evaluation of outcomes across a greater number of skills and participants. ..
  72. Eyeblink in Children and Adolescents with Autism Spectrum Disorders:A Pilot Study
    Richard P Malone; Fiscal Year: 2010
    ..Welsh, Ph.D.) and a clinical researcher (Richard P. Malone, M.D.) so that knowledge gained in the basic science laboratory can be used to further investigate causes of symptomology in individuals with ASD. ..
  73. GENETIC INFLUENCES IN AUTISM AND TUBEROUS SCLEROSIS
    Susan Smalley; Fiscal Year: 1993
    ..In addition to these sub-clinical behavioral and biological measures, the frequency of DSMIII diagnosed autism and autistic-like behaviors will be determined in the tuberous sclerosis subjects, autistic subjects, and their relatives...
  74. Social Skills Intervention for Adolescents with High Functioning Autism/Asperger
    Dorothy Strickland; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable] [unreadable] [unreadable]..