Tuberous Sclerosis Complex (TSC)


 What is TSC?

Tuberous Sclerosis Complex (TSC) is a genetic disorder caused by mutations in either the TSC1 or TSC2 genes. The genetic variation results in the growth of non-malignant tumors throughout the body. Developmental delay, intellectual disability, and ASD are also common in children with TSC, although the severity of developmental impact can vary widely. Currently, there is no specific treatment for children with TSC, however there are therapies and treatments available for the specific symptoms that occur in TSC, such as antiepileptic medications, physical, occupational, and speech therapy, and Applied Behavioral Analysis (ABA) therapy to treat social skill deficits associated with autism spectrum disorders.

What is Jeste Lab studying in regards to TSC

Our research focuses on the identification of early biomarkers within infants and toddlers diagnosed with TSC using both behavioral and electrophysiological measures. Based on previous studies of high-risk infants for ASD and studies of ASD in TSC, we are characterizing overall development, basic visual processing, statistical learning, language processing and face processing in infants from 3 months to 36 months.

The Jeste Lab is also currently interested in the effects of behavioral intervention on infants and toddlers diagnosed with TSC. The purpose of this research is to examine the effects of behavioral intervention on social-communication skills in infants and toddlers with Tuberous Sclerosis Complex (TSC), and to identify behavioral strategies required to maximize treatment outcomes in infants with TSC. Participants will be integrated into an existing early intervention study targeting social communication function in infants.

The overarching goal of our research is to enhance clinical and research efforts in rare genetic variants and syndromes associated with neurodevelopmental disorders. The identification of biologically based phenotypes within the heterogeneous spectrum of neurodevelopmental disorders, as only through the elucidation of mechanisms of atypical development can we design and implement targeted, personalized interventions for these children.

How do I participate in studies related to TSC?

None of this work would be possible without the generous involvement of the families who participate in our study. It is a continuing and ongoing endeavor to detect reliable markers of TSC. Although we have already learned much from our research, there is still so much yet to know about social cognitive development and risk factors that lead to a TSC diagnosis. We are currently recruiting infants and toddlers with TSC to participant in our studies. If you or someone you know is interested in participating in our research, please contact our research coordinator Scott Huberty at

 

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