Genetics, Brain Structure and Thinking Skills in Autism

Study Overview
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Brief Summary
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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.

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

Conditions
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Autism Spectrum Disorders

Participation Criteria
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Eligibility Criteria
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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.

Ages Eligible for Study
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Minimum Age: 2 Years
Maximum Age: 50 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 |
| --- | --- |
| ASD with PTEN<br>Individuals with autism spectrum disorder who are also found to have a PTEN mutation. | |
| ASD no PTEN macrocephaly<br>Individuals with autism spectrum disorder who do not have a PTEN mutation with a large head circumference. | |
| ASD no PTEN no macrocephaly<br>Individuals with autism spectrum disorder who do not have a PTEN mutation without a large head circumference. | |
| Siblings<br>Siblings of individuals with autism spectrum disorders. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Total Brain Volume |  | Baseline | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Autism, PTEN, macrocephaly