Genetic Contributions to Autism Spectrum Disorders

This study is working towards gaining a better understanding of the genetic and environmental factors involved in autism spectrum disorders (ASD), which includes autism, pervasive developmental disorder (PDD), and Asperger's syndrome. The investigators hope that information gained from this study will lead to new ways of diagnosing and treating ASDs.

Study Overview

• Status: Active, not recruiting
• Conditions: Autism Spectrum Disorder; Autism; Pervasive Developmental Disorder; Asperger's Syndrome

Detailed Description

Participation generally takes less than 2 hours to complete and travel to Children's Hospital Boston is not required. Participants are asked some questions about their medical and family history. The investigators also request permission to review medical records related to the autism spectrum disorders (ASD) diagnosis. Finally, the investigators obtain a small blood or saliva sample in order to search for genes that may be important in understanding ASD. The investigators can arrange for the blood draw through a participant's physician or a clinical laboratory and saliva samples can be obtained through the mail. The study questions are answered via telephone or mailed questionnaires. There is no cost to participate.

• Study Type: Observational
• Enrollment (Actual): 240

Contacts and Locations

Study Locations

• United States
  • Massachusetts
    • Boston, Massachusetts, United States, 02115
      • Boston Children's Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 year and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Children with a diagnosis of an Autism Spectrum Disorder (autism, pervasive developmental disorder (PDD), or Asperger's syndrome) and their parents and/or siblings

Description

Inclusion Criteria:

• Clinical diagnosis of an Autism Spectrum Disorder (autism, pervasive developmental disorder (PDD), or Asperger's syndrome)
• Age > 18 months

Exclusion Criteria:

• Do not have the diagnosis of an ASD
• Participation in the "Phenotypic and Genetic Risk Factors in ASD" study at Boston Children's Hospital.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Gene expression levels	Gene expression levels	At sample collection

Collaborators and Investigators

• Sponsor: Boston Children's Hospital
• Investigators: Principal Investigator: Christopher Walsh, MD, PhD, Boston Children's Hospital

Study record dates

Study Major Dates

• Study Start (Actual): April 1, 2007
• Primary Completion (Estimated): December 1, 2028
• Study Completion (Estimated): February 1, 2030

Study Registration Dates

• First Submitted: July 9, 2010
• First Submitted That Met QC Criteria: July 9, 2010
• First Posted (Estimated): July 12, 2010

Study Record Updates

• Last Update Posted (Actual): June 18, 2026
• Last Update Submitted That Met QC Criteria: June 16, 2026
• Last Verified: May 1, 2026

More Information

Terms related to this study

• Keywords: Autism; Autism Spectrum Disorder; Autistic Disorder; Asperger Syndrome; Asperger's Syndrome; Pervasive Developmental Disorders; Child Development Disorders, Pervasive; Pervasive Developmental Disorder-Not Otherwise Specified; PDD-Not Otherwise Specified
• Additional Relevant MeSH Terms: Mental Disorders; Neurodevelopmental Disorders; Autism Spectrum Disorder; Autistic Disorder; Asperger Syndrome; Child Development Disorders, Pervasive
• Other Study ID Numbers: 07-04-0136

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No