Phenotypic and Genetic Factors in Autism Spectrum Disorders
Overview
- Phase
- N/A
- Intervention
- Not specified
- Conditions
- Autism Spectrum Disorders
- Sponsor
- Boston Children's Hospital
- Enrollment
- 1500
- Locations
- 1
- Primary Endpoint
- genotype-phenotype correlation
- Status
- Active, Not Recruiting
- Last Updated
- 4 months ago
Overview
Brief Summary
The purpose of the study is to collect phenotypic (observable characteristics) and genetic information about individuals with Autism Spectrum Disorders (ASDs) and their families.
Detailed Description
Participation in this research study involves two research visits, at least one of which is at Children's Hospital Boston. The first visit lasts about 4-6 hours. On this visit, the child will work with a research assistant on a few different cognitive assessments while one or both parents answer interview questionnaires about the child's development, along with other family history information. The second visit at the hospital lasts about 2 and a half hours and involves medical history and family history questionnaires, as well as height, weight, and head circumference measurements and a blood draw from each family member. In addition, digital photographs will be taken of each family member and a 3-D picture of the child's face will be taken. Shortly after the visits, participants will receive a research report of our observations. These results include cognitive, behavioral, developmental, and social findings. The total time commitment for the study is 6 to 8 hours.
Investigators
Christopher Walsh
Professor of Genetics and Pediatrics, Harvard Medical School
Boston Children's Hospital
Eligibility Criteria
Inclusion Criteria
- •Diagnosis of autism spectrum disorder or suspected diagnosis based on clinical genetic test results (e.g., variant diagnosed via chromosomal microarray)
- •Age ≥ 18 months
Exclusion Criteria
- •Presence of a metabolic disorder
- •Acquired developmental disability (e.g., birth asphyxia, trauma-related injury, meningitis, etc.) or cerebral palsy
Outcomes
Primary Outcomes
genotype-phenotype correlation
Time Frame: enrollment and sample analysis