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Cognitive Neuroscience of Autism Spectrum Disorders

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT01031407
Recruitment Status : Recruiting
First Posted : December 14, 2009
Last Update Posted : June 30, 2022
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Mental Health (NIMH) )

Brief Summary:


  • 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.


  • 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.


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.


  • 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.

Condition or disease
Asperger's Disorder Mental Retardation Children Adult Autism Spectrum Disorders

Detailed Description:

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.).

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Study Type : Observational
Estimated Enrollment : 1550 participants
Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: Cognitive Neuroscience of Autism Spectrum Disorders
Actual Study Start Date : February 21, 2010

Group 1
Healthy Volunteers
Group 2
Individuals with Autism Spectrum Disorders
Group 3
Parents of Healthy Volunteers, or Individuals with Autism Spectrum Disorders

Primary Outcome Measures :
  1. Cognitive and neurological phenotypes in ASD and control participants [ Time Frame: Ongoing ]
    Cognitive tasks and neuroimaging

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   5 Years to 89 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Children, adolescents, and adults with autism spectrum disorders (ASDs), controls (i.e., typically developing children, adolescents, and adults and children with mild to moderate intellectual disability), as well as caregivers/legal guardians/parents of these individuals.

Subjects will include:

  1. males and females.
  2. 5-89 years of age.
  3. A minimum IQ of 70

Subjects in the ASD group will:

  1. meet DSM-IV criteria for one of the pervasive developmental disorders (i.e., autistic disorder, Asperger disorder, or pervasive developmental disorder-not otherwise specified).
  2. 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.
  3. be able to provide their own consent (for adults).

For inclusion in the facial recognition substudy, subjects must be:

  1. ages 18 to 35
  2. in good health
  3. with bad memory of faces


All subjects, except for savants, also will be excluded if they have:

  1. a history of neurological insult/injury.
  2. substantial prenatal drug exposure known to affect later brain and behavior (e.g., cocaine, alcohol).
  3. severely premature birth or birth trauma.
  4. severe medical disorder (e.g., neurofibromatosis, hydrocephalus, cerebral palsy, uncontrollable seizure disorder).
  5. 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:

  6. 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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01031407

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Contact: NIMH LBC Volunteer (301) 827-5157
Contact: Alex Martin, Ph.D. (301) 435-1926

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United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)    800-411-1222 ext TTY8664111010   
Sponsors and Collaborators
National Institute of Mental Health (NIMH)
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Principal Investigator: Alex Martin, Ph.D. National Institute of Mental Health (NIMH)
Additional Information:
Publications automatically indexed to this study by Identifier (NCT Number):

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Responsible Party: National Institute of Mental Health (NIMH) Identifier: NCT01031407    
Other Study ID Numbers: 100027
First Posted: December 14, 2009    Key Record Dates
Last Update Posted: June 30, 2022
Last Verified: November 23, 2021

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute of Mental Health (NIMH) ):
Social Cognition
Functional Magnetic Resonance Imaging (fMRI)
Structural MRI
Natural History
Additional relevant MeSH terms:
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Intellectual Disability
Autistic Disorder
Autism Spectrum Disorder
Child Development Disorders, Pervasive
Asperger Syndrome
Pathologic Processes
Neurodevelopmental Disorders
Mental Disorders
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases