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Phenotypic and Genetic Factors in Autism Spectrum Disorders

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified September 2011 by Boston Children’s Hospital.
Recruitment status was:  Recruiting
Information provided by:
Boston Children’s Hospital Identifier:
First received: May 29, 2009
Last updated: September 13, 2011
Last verified: September 2011
The purpose of the study is to collect phenotypic (observable characteristics) and genetic information about individuals with Autism Spectrum Disorders (ASDs) and their families.

Autism Spectrum Disorders

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Cross-Sectional
Official Title: Phenotypic and Genetic Factors in Autism Spectrum Disorders

Resource links provided by NLM:

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

Biospecimen Retention:   Samples With DNA
Whole blood

Estimated Enrollment: 1500
Study Start Date: July 2008
Estimated Study Completion Date: February 2013
Estimated Primary Completion Date: February 2013 (Final data collection date for primary outcome measure)
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.

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
Individuals with ASDs and their parents and/or siblings

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
  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: NCT00910559

United States, Massachusetts
Children's Hospital Boston Recruiting
Boston, Massachusetts, United States, 02115
Contact: Joanna Reinwald, M.S.    617-355-9152   
Principal Investigator: Louis Kunkel, Ph.D.         
Sponsors and Collaborators
Boston Children’s Hospital
Principal Investigator: Louis Kunkel, PhD Boston Children’s Hospital
  More Information

Responsible Party: Louis Kunkel Ph.D., Children's Hospital Boston Identifier: NCT00910559     History of Changes
Other Study ID Numbers: 04-05-075
1R01MH085143-01 ( US NIH Grant/Contract Award Number )
Study First Received: May 29, 2009
Last Updated: September 13, 2011

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

Additional relevant MeSH terms:
Autistic Disorder
Autism Spectrum Disorder
Child Development Disorders, Pervasive
Pathologic Processes
Neurodevelopmental Disorders
Mental Disorders processed this record on May 23, 2017