Genetics, Brain Structure and Thinking Skills in Autism
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.
Autism Spectrum Disorders
|Study Design:||Observational Model: Case Control
Time Perspective: Cross-Sectional
|Official Title:||Genetic, Biochemical, Behavioral and Neuroimaging Phenotypes of Autism Spectrum Disorders (ASDs)|
- Total Brain Volume [ Time Frame: Baseline ] [ Designated as safety issue: No ]
Biospecimen Retention: Samples With DNA
About 6 tubes of blood or up to 50 ml (3-4 tablespoons) and 30 mL of urine will be collected.
|Study Start Date:||May 2010|
|Estimated Primary Completion Date:||December 2015 (Final data collection date for primary outcome measure)|
ASD with PTEN
Individuals with autism spectrum disorder who are also found to have a PTEN mutation.
ASD no PTEN macrocephaly
Individuals with autism spectrum disorder who do not have a PTEN mutation with a large head circumference.
ASD no PTEN no macrocephaly
Individuals with autism spectrum disorder who do not have a PTEN mutation without a large head circumference.
Siblings of individuals with autism spectrum disorders.
|Contact: Becky Embacher, M.Ed.||email@example.com|
|United States, Ohio|
|Cleveland Clinic Center for Autism||Recruiting|
|Cleveland, Ohio, United States, 44104|
|Contact: Becky Embacher, M.Ed. 216-448-6493 firstname.lastname@example.org|
|Principal Investigator: Charis Eng, M.D., Ph.D.|
|Principal Investigator: Thomas W Frazier, Ph.D.|
|Sub-Investigator: David Serre, Ph.D.|
|Sub-Investigator: Stephen Rao, Ph.D.|
|Sub-Investigator: Mark Lowe, Ph.D.|
|Sub-Investigator: Micheal Phillips, M.D.|
|Sub-Investigator: Judith Hobert, Ph.D.|
|Sub-Investigator: Katherine Koenig, Ph.D.|
|Sub-Investigator: Amanda Tilot|
|Sub-Investigator: Blessy Mathew|
|Sub-Investigator: Erik Beall, Ph.D.|
|Principal Investigator:||Thomas W Frazier, Ph.D.||The Cleveland Clinic|
|Principal Investigator:||Charis Eng, M.D., Ph.D.||The Cleveland Clinic|