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Genetic Contributions to Autism Spectrum Disorders

This study has suspended participant recruitment.
Information provided by (Responsible Party):
Boston Children’s Hospital Identifier:
First received: July 9, 2010
Last updated: August 7, 2013
Last verified: August 2013
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.

Autism Spectrum Disorder
Asperger's Syndrome
Pervasive Developmental Disorder

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Cross-Sectional
Official Title: Genetic Contributions to Autism Spectrum Disorders

Resource links provided by NLM:

Further study details as provided by Boston Children’s Hospital:

Primary Outcome Measures:
  • Gene expression levels [ Time Frame: At sample collection ]

Biospecimen Retention:   Samples With DNA
Whole blood, DNA and RNA and/or Saliva, DNA

Estimated Enrollment: 1500
Study Start Date: April 2007
Estimated Study Completion Date: December 2015
Estimated Primary Completion Date: December 2015 (Final data collection date for primary outcome measure)
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 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.

Ages Eligible for Study:   18 Months and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
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

Inclusion Criteria:

  • Clinical diagnosis of an Autism Spectrum Disorder (autism, pervasive developmental disorder (PDD), or Asperger's syndrome)
  • Age > 18 months
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01160783

United States, Massachusetts
Children's Hospital Boston
Boston, Massachusetts, United States, 02115
Sponsors and Collaborators
Boston Children’s Hospital
Principal Investigator: Ingrid A Holm, MD, MPH Boston Children’s Hospital
  More Information

Additional Information:
Responsible Party: Boston Children’s Hospital Identifier: NCT01160783     History of Changes
Other Study ID Numbers: 07-04-0136
Study First Received: July 9, 2010
Last Updated: August 7, 2013

Keywords provided by Boston Children’s Hospital:
Asperger's Syndrome
Asperger Syndrome
Autistic Disorder
Autism Spectrum Disorder
Pervasive Developmental Disorders
Child Development Disorders, Pervasive
Pervasive Developmental Disorder-Not Otherwise Specified

Additional relevant MeSH terms:
Autistic Disorder
Autism Spectrum Disorder
Child Development Disorders, Pervasive
Developmental Disabilities
Asperger Syndrome
Pathologic Processes
Neurodevelopmental Disorders
Mental Disorders processed this record on May 22, 2017