Determining the Genetics of ASD

Jan 17 2012
Feb 15 2014
America/New York
Center for Autism Research at the Children's Hospital of Philadelphia, Philadelphia, PA


Brief Description:

Researchers believe that genetics play a large role in autism spectrum disorders (ASD). While some genes causing ASD have been discovered, most of them have not yet been found. Through this research study, we want to identify specific genes that increase an individual’s likelihood of having ASD. There are dozens and possibly even more than a hundred different ways genes can combine to cause ASD. Understanding how and why ASD presents itself so differently in every individual with the disorder will help researchers to develop more individually-specific, and therefore more effective, treatments.

Children and adults over the age of 4 may take part. Participants must have a diagnosis of ASD (including PDD-NOS, autism, and Asperger’s Syndrome).

All participants will be given the option to receive a report of significant genetic findings that relate to ASD and a feedback session with a certified genetic counselor. Each person with ASD who contributes a genetic sample will be compensated for his/her time.


Eligibility for Study Participation:

-Participants cannot be younger than 4 years old

-English must be the primary language spoken in the home

-Participants cannot have been born premature or before 32 weeks

-Participants must have a community diagnosis of autism, Asperger’s Syndrome, or PDD-NOS


Participation Details:

All individuals with ASD will be asked to provide a small (about one teaspoon) sample of blood or saliva. Samples can be collected at selected locations of The Children’s Hospital of Philadelphia network or in the participant’s home (if they live within an hour of Philadelphia). Parents may also be asked to provide a blood or saliva sample and to answer questionnaires over the phone, in person, and on paper. The total time commitment for this study is approximately 1 hour.


Principal Investigator:

Dr. Robert Schultz


Contact Information:

Julianne Fretz, 1-866-570-6524 or


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