Detailed Autism Phenotyping

This study involves providing blood samples as well as an assessment battery including IQ tests, questionnaires and observations. Parents and siblings, along with the family member diagnosed with an ASD, are invited to participate. The goals of this study are to:

• discover new genes involved in ASDs
• establish a comprehensive and efficient assessment battery for improved evaluation of individual with ASDs
• better understand characteristics of the whole family, such as medical history
• determine if there is a correlation between these family characteristics and any genetic differences so that we may better understand the gene(s) involved in ASDs

The study will be conducted at all of our clinical sites throughout Boston and Cambridge, or can be performed at the family’s home. At the conclusion of the study, a detailed report of the assessment results for the family member with an ASD will be provided. The report will be reviewed with the family by a psychologist in-person or by phone if preferred. This valuable report and consultation with a psychologist is provided for free to families participating in this study. We anticipate that this study will begin at all of our clinical sites in the fall of 2007.  Current phenotyping focuses on behavioral, cognitive and executive functioning.  Provisions are in place for future studies on environmental and biologic measures as well.