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ASD and Tuberous Sclerosis Complex

Brief description:

Together with the University of California, Los Angeles, we are investigating the development of Tuberous Sclerosis Complex (TSC), a genetic disorder. Up to 60% of children with TSC develop autism, but often the diagnosis is not made until much later in childhood. Our aim is to identify pathways to earlier identification of autism spectrum disorders, which leads to earlier interventions and, hopefully, better behavioral outcomes.

To properly investigate the development of children with TSC we are also recruiting typically developing children to provide comparison data. 

Eligibility for Study Participation:

  • Typically developing infants 3 to 12 months of age who have no history of pre or postnatal difficulties
  • Infants with TSC from 3 to 24 months of age

Participation Details:

If you decide to participate in this study, which has a longitudinal design, it will involve multiple visits to the LCN at regular time points during your baby's first 3 years of life. Each visit will last about 2 1/2 hours and will be scheduled at a time that is convenient for you and your child. Parents will be with their child at all times. There is also an optional sleeping MRI portion of study.

Research Contact:

LCNclinicalstudies@childrens.harvard.edu

Full Description:

Tuberous Sclerosis Complex (TSC) is a genetic disorder caused by mutations in either the TSC1 or TSC2 genes. TSC is characterized by the widespread growth of benign, tumor-like nodules called hamartomas in multiple organ systems, including the brain. It is strongly associated with cognitive impairment, behavioral disturbances, and autism spectrum disorders (ASD), and these neurodevelopmental disorders can cause significant disability from early infancy through adulthood. Cognitive impairment has been reported in 44-80% of individuals with TSC, ranging from learning disabilities to more profound intellectual impairment.  

We are using behavioral tests as well as measures of the brain’s electrical response to faces to characterize the development of children with and without TSC and evaluate their risk for autism. We will follow infants from age three months through age three, at which time they will be evaluated for autism concerns. We will then determine if any early abnormalities in behavior and face processing can predict autism in these infants.

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