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Our Studies | Overview


The Neurodevelopmental Disorders Phenotyping Program is currently conducting a number of studies investigating different aspects of developmental disorders. We are actively seeking families to participate in these studies. To read more about our current studies - and to learn how your family can participate - we invite you to visit the links below:

Phenotypic and Genetic Factors in Autism Spectrum Disorders (ASD) - This study is designed to understand the genetic causes of autism spectrum disorders. Any family with at least one child with a diagnosis on the autism spectrum is eligible to participate.

Simons Variation in Individuals Project (Simons VIP) - The Simons VIP involves individuals with specific genetic disorders, including chromosome 16p11.2 deletion and duplication, to better understand how the genetic change affects their development, behaviors, and learning. Although Simons VIP is no longer enrolling new subjects for the in person portion of the study, families who are interested can sign up for Phase 2 collection of family, medical, development and behavior information.

Phenotypic and Genetic Factors

What are the goals of this study?
The main goal of this study is to explore the genetic and environmental factors that may be involved in the development of Autism Spectrum Disorders (ASD) - including Autism, Asperger Syndrome, and PDD-NOS - and other related disorders.

We hope that our findings will lead to a better understanding of why ASD occurs, and eventually allow doctors to diagnose children with ASD at an earlier age.

We also hope that our work will lead to new and better treatments for ASD, and better outcomes for children with ASD and their families.

We collaborate with the Simons Foundation, the Autism Consortium, and the National Institute of Mental Health for this study.

What is involved?
To achieve these goals, we are collecting many different types information.

Our team interviews all immediate family members, including parent(s), sibling(s) and the child with ASD. Parents answer questions about their child's developmental, behavioral, and medical history, including current symptoms and any treatments the child may have received.

The child with ASD completes some interactive play-based testing with one of our research assistants, and we also collect a blood sample from all participating family members.

This study is usually divided over 2 visits at Children’s Hospital Boston. Free parking at the hospital is provided.

Shortly after the visits, families receive a research report of our observations that includes developmental, cognitive, behavioral and social findings.

Who can participate?
Eligible families have a child with ASD, 18 months and older.

What else is important to know?
All of the information we collect will be stored securely in a way that keeps your family’s participation confidential.

Would you like to learn more?
If you are interested in participating or would like more information, please contact us at 1-866-982-5826 or 617-355-9152. You can also email us at

We look forward to speaking with you!

Simons Variation in Individuals Project

The Simons Variation in Individuals Project (Simons VIP) is a new research initiative that aims to identify and study a large number of individuals with a recurrent genetic variation (deletion or duplication of chromosome 16p11.2) that increases the risk of developing autism spectrum disorder and other neurodevelopmental disorders. Simons VIP will collect detailed clinical information and blood samples from more than 200 families, with the immediate goal of identifying medical, cognitive, neurological and behavioral profiles shared by individuals with this specific deletion or duplication. Other recurrent genetic variants may be considered in the future.

Participants are recruited in various ways, including referral by clinical genetic centers or testing laboratories, by web-based networks or by self-referral of families who learn about the Simons VIP. Family participation is key to the project's success. The Simons VIP will work with families over time to develop a community for 16p11.2 families (Simons VIP Connect) and provide access to cutting-edge clinical and research information.

Extensive psychological and neurological testing along with neuroimaging (MRI, fMRI, MEG) will take place at a select group of university-based medical centers participating in the Simons VIP, including Boston Children's Hospital. Biological samples will be stored at the Rutgers University Cell and DNA Repository and all de-identified participant data will be available to qualified researchers worldwide through an informatics platform. Careful analysis of genetically defined autism subtypes will allow detailed phenotypic comparisons within and among these groups to clarify genotype-phenotype correlations.

Would you like to learn more?
If you are interested in participating or would like more information, please refer to: