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Endophenotypic Characterization of 16p CNV

**This study is not enrolling any new participants at this time.

Brief description

The current project aims to investigate the development of children who have a genetic variant (16 deletion/duplication) associated with autism in comparison to children who do not. We will measure brain activity using two non-invasive techniques, EEG and Near-Infrared Spectroscopy, while participants view pictures on a computer screen, listen to sounds, and watch a movie. Through this study, we aim to learn more about how children with genetic variants develop differently and to identify early neural markers of developmental delays and/or autism. Ultimately, our goal is to contribute to a better understanding of autism spectrum disorders and design more effective diagnostic tools.

To properly investigate neural functioning in children with this genetic variant, we are also recruiting typically developing children to provide comparison data.

Eligibility for Study Participation

We apologize, we are not currently enrolling participants for this study.

Participation Details

This study involves one 2-2.5 hour visit to the lab, during which you will be with your child the whole time. At the visit, your child will view pictures of faces and listen to different sounds while we record his or her brain activity and track where he or she looks on the screen. We will also measure your child’s brain activity during a resting state, when we are not showing any pictures or playing any sounds. As a token of appreciation, we will give your child a small toy at the end of the session, and you will receive $25 cash reimbursement for the cost of transportation.  We also offer free parking and free child care for any siblings that may accompany you and your child to the LCN.

Research Contact

Full Description

Autism is the most prevalent developmental disorder in the United States; however, the genetic and environmental underpinnings remain elusive. The main goal of this project is to establish and expand a set of investigative measures that researchers can use to evaluate a child’s level of risk for autism spectrum disorders. In particular, we are interested in participants who have a genetic change that is well defined. Individuals with 16p11.2 deletions are missing a specific section in one of their two chromosomes 16s. Those with 16p11.2 duplications have a specific extra section. In general, children with 16p deletions/duplications are at an increased risk for developing autism and other neurodevelopmental disorders.

During this study we will use two non-invasive methods (EEG and Near-Infrared Spectroscopy) to collect neuroimaging data as children view pictures of faces, objects, and checkerboards, and listen to recordings of familiars words and mixed-up sentences. Each of these tasks is designed to elicit a specific neural response, and will tell use about cognitive processing related to the stimuli. Children with autism and other developmental disorders have different processing patterns than those who are typically developing. Our goal is to better characterize these differences so that we can use them as a meaningful tool in learning more about pathogenesis, diagnosis and treatment of the disorder.

Our cognitive processing study is happening in conjunction with other laboratories, in the Boston area and around the United States that are examining different aspects of development in children with 16p deletions/duplications such as family history, epigenetics, and behavioral phenotype. Together, we hope to contribute to a better understanding of autism spectrum disorders and design more effective diagnostic tools for early detection and treatment.

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