Genetics, Brain Structure and Thinking Skills in Autism



Status:Recruiting
Conditions:Neurology, Psychiatric, Autism
Therapuetic Areas:Neurology, Psychiatry / Psychology
Healthy:No
Age Range:2 - 50
Updated:2/7/2015
Start Date:May 2010
Contact:Becky Embacher, M.Ed.
Email:embachr@ccf.org
Phone:216-448-6493

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Genetic, Biochemical, Behavioral and Neuroimaging Phenotypes of Autism Spectrum Disorders (ASDs)

The purpose of this research is to better understand the genetic, biochemical, cognitive and
behavioral symptom abnormalities that contribute to autism spectrum disorders. The
investigators anticipate recruiting at least 100 participants with autism spectrum disorder
and large head size, at least 100 participants with autism spectrum disorder without large
head size and at least 40 healthy siblings. Biological parents are expected to be recruited
only as genetic changes are identified in individuals with autism spectrum disorders to
better understand the nature of these genetic changes. Participants are asked to complete
cognitive testing, a blood draw, urine collection and measurement of his/her height, weight
and head circumference. Parents or caregivers may be asked to complete a diagnostic
evaluation and will complete questionnaires that examine the participant's medical and
family history as well as his/her current symptoms, functioning, and quality of life. A
brief report simply listing and giving a basic description of any behavioral diagnostic
information, autism symptoms, adaptive functioning, and a listing of results from cognitive
testing will be provided as part of this study.


Inclusion Criteria:

- Clinical diagnosis of autism

- Consent from parents or guardians or an adult with or suspected of having an autism
spectrum disorder that does not require a legal guardian or an adult who is the
healthy sibling of an individual with an autism spectrum disorder.

- Youth ages 2-17 and adults ages 18-50. Youths and adults who are able (some young or
severely impaired participants may not be able to provide assent) will be asked to
provide assent.

- Families with multiple children who meet the above inclusion criteria will be
permitted to have as many children participate as they wish.

- Youth ages 2-17 and adults ages 18-50 who do not have an autism spectrum disorder or
are not suspected of having an autism spectrum disorder and who have a sibling with
an autism spectrum disorder who has participated in the present study.

Exclusion Criteria:

- Clinically significant medical disease that would prohibit participation in the study
procedures.

- Children younger than 2 years old and adults older than 50 years old.
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