Phenotypic and Genetic Factors in Autism Spectrum Disorders

Overview

The purpose of the study is to collect phenotypic (observable characteristics) and genetic information about individuals with Autism Spectrum Disorders (ASDs) and their families.

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Cross-Sectional
  • Study Primary Completion Date: January 2027

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.

Clinical Trial Outcome Measures

Primary Measures

  • genotype-phenotype correlation
    • Time Frame: enrollment and sample analysis

Participating in This Clinical Trial

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

Gender Eligibility: All

Minimum Age: 18 Months

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Boston Children’s Hospital
  • Collaborator
    • National Institute of Mental Health (NIMH)
  • Provider of Information About this Clinical Study
    • Principal Investigator: Christopher Walsh, Professor of Genetics and Pediatrics, Harvard Medical School – Boston Children’s Hospital
  • Overall Official(s)
    • Christopher Walsh, MD, PhD, Principal Investigator, Boston Children’s Hospital

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