Phenotypic and Genetic Factors in Autism Spectrum Disorders

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Total Enrollment

1500 participants

Study Classification

OBSERVATIONAL

Study Start Date

2008-07-31

Study Completion Date

2030-02-28

Brief Summary

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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

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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.

Conditions

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Autism Spectrum Disorders

Keywords

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

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

CROSS_SECTIONAL

Eligibility Criteria

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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

Minimum Eligible Age

18 Months

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Responsible Party

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Christopher Walsh

Professor of Genetics and Pediatrics, Harvard Medical School

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Christopher Walsh, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Boston Children's Hospital

Locations

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Children's Hospital Boston

Boston, Massachusetts, United States

Site Status

Countries

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United States

Other Identifiers

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R01MH085143

Identifier Type: NIH

Identifier Source: secondary_id

View Link

R01MH083565