Cognitive Neuroscience of Autism Spectrum Disorders

Study Overview
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Brief Summary
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Background: Autism spectrum disorders (ASDs) are a group of developmental disorders that affect communication, social interaction, and behavior. Relatively little is known about the relationship between genetics and behavior among these individuals and their close relatives. Researchers are interested in using interviews and rating scales to better understand these issues, as well as collecting brain scan data and genetic samples for testing and comparison. By comparing test results and genetic samples from healthy volunteers, people with ASD, and parents (or caregivers or legal guardians) of the first two groups, researchers hope to better understand the neuroscience of ASD. Objectives: To learn more about the brain in healthy people and in people with autism spectrum disorders. To study genes that might be involved in autism spectrum disorders by collecting DNA samples from participants. Eligibility: The following groups of participants will be eligible for the study: Individuals between 5 and 89 years of age who have autism spectrum disorders. Healthy volunteers between 5 and 89 years of age. Cognitively impaired children between 5 and 17 years of age. Parents/caregivers/legal guardians of individuals in the above three groups. Design: Participants will visit the National Institutes of Health Clinical Center for research tests, which will be administered over multiple visits. Researchers will determine the specific tests to be administered based on the medical history of the study participant. Researchers will study the brain through interviews, tests of thinking and memory (neuropsychological tests), brain imaging with magnetic resonance imaging (MRI), and magnetoencephalography (MEG). The study will also collect blood or saliva to obtain a DNA sample.

Detailed Description
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Objective: The primary objective of the proposed studies is to utilize neuroimaging (functional Magnetic Resonance Imaging [fMRI], structural MRI [sMRI], Magnetoencephalography [MEG]) and neuropsychological tools (eye-tracking, cognitive experiments, clinical neuropsychological measures, questionnaires, etc.) to identify cognitive idiosyncrasies (e.g., social-cognitive deficits, visual perceptual assets, and savant skills) characteristic of individuals on the autism spectrum and their neural underpinnings across childhood and adulthood. Study Population: Children, adolescents, and adults with autism spectrum disorders (ASDs), controls (i.e., typically developing children, adolescents, and adults and those with mild to moderate mental retardation), as well as caregivers/legal guardians/parents of these individuals. Design: Descriptive/Characterization/Observational studies using primarily neuropsychological and neuroimaging methodologies. Outcome Measures: Behavioral (reaction time, accuracy, eye movements, etc.) and neuroimaging (brain morphometry, BOLD, electrophysiology, etc.).

Official Title
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Cognitive Neuroscience of Autism Spectrum Disorders

Conditions
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Asperger's Disorder, Mental Retardation, Children, Adult, Autism Spectrum Disorders

Participation Criteria
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Eligibility Criteria
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INCLUSION CRITERIA: Subjects will include: males and females. 5-89 years of age. A minimum IQ of 70 Subjects in the ASD group will: meet DSM-IV criteria for one of the pervasive developmental disorders (i.e., autistic disorder, Asperger disorder, or pervasive developmental disorder-not otherwise specified). meet or pass the autism cut-off score for social symptoms on the ADI and/or the ASD cut-off score from social+communication symptoms on the ADOS. be able to provide their own consent (for adults). For inclusion in the facial recognition substudy, subjects must be: ages 18 to 35 in good health with bad memory of faces EXCLUSION CRITERIA: All subjects, except for savants, also will be excluded if they have: a history of neurological insult/injury. substantial prenatal drug exposure known to affect later brain and behavior (e.g., cocaine, alcohol). severely premature birth or birth trauma. severe medical disorder (e.g., neurofibromatosis, hydrocephalus, cerebral palsy, uncontrollable seizure disorder). a known genetic disorder (e.g., Fragile X or Down syndrome) that would be expected to significantly impact findings from cognitive testing and/or neuroimaging. Furthermore, subjects will be excluded from MRI/MEG studies, if they have: any exclusion from MRI scanning including: the presence of metal in their body, having a pacemaker, and/or females who are pregnant. Healthy volunteers, except for parents of individuals with autism spectrum disorders and parents of healthy volunteers, will also be excluded if they have: 1. a current or past history of axis I psychiatric conditions or any current usage of psychiatric medication. Savants have less restrictive exclusionary criteria because: 1) they are a very rare group, thus we don t want to limit recruitment further and 2) we can examine common and unique cognitive mechanisms across savants, a question of keen interest, regardless of co-morbidities. Those with tumors or other neuroimaging-relevant contraindications will be excluded from fMRI/MEG procedures.

Ages Eligible for Study
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Minimum Age: 5 Years
Maximum Age: 89 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Group 1<br>Healthy Volunteers | |
| Group 2<br>Individuals with Autism Spectrum Disorders | |
| Group 3<br>Parents of Healthy Volunteers, or Individuals with Autism Spectrum Disorders | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Cognitive and neurological phenotypes in ASD and control participants | Cognitive tasks and neuroimaging | Ongoing | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Structural MRI, Natural History, Social Cognition, Autism, Functional Magnetic Resonance Imaging (fMRI), MEG