Cognitive Neuroscience of Autism Spectrum Disorders

Conditions:Neurology, Psychiatric, Autism
Therapuetic Areas:Neurology, Psychiatry / Psychology
Age Range:5 - 89
Start Date:November 19, 2009
Contact:Kelsey D Csumitta
Phone:(301) 435-4928

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- 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

- 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.

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

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

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.).


Subjects will include:

1. males and females.

2. 5-89 years of age.

3. A minimum IQ of 70 if age 18 or older.

4. A minimum IQ of 50 if 5-17 years old.

Inclusion criteria for cognitively impaired children without ASD, Subjects will include:

1. males and females.

2. 5-17 years of age IQ of 50-69.

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

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).


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.

Exclusion criteria for cognitively impaired children:

1. An IQ of less than 50

2. Had severely premature birth or birth trauma,

3. Typically developing but takes psychiatric medication.

Healthy volunteers, except for parents of individuals with autism spectrum disorders,
parents of healthy volunteers, and parents of children with cognitive impairments, 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.
We found this trial at
9000 Rockville Pike
Bethesda, Maryland 20892
Phone: 800-411-1222
Bethesda, MD
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