Phenotypic and Genetic Factors in Autism Spectrum Disorders

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00910559

Enrollment

1500

Registered

2009-06-01

Start date

2008-07-31

Completion date

2030-02-28

Last updated

2025-12-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Autism Spectrum Disorders

Keywords

Autism Spectrum Disorder, Autism, Asperger Syndrome, Pervasive Developmental Disorders- Not Otherwise Specified

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.

Interventions

None listed

Study design

Observational model

FAMILY_BASED

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Age

18 Months to No maximum

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame
genotype-phenotype correlation	enrollment and sample analysis

Countries

United States

Outcome results