Chromosome 15q11.2-13.1 Duplication Syndrome (Dup15q)


What is Dup15q?

Dup15q syndrome is a neurogenetic disorder that results from duplications of chromosome 15q11.2-13.1. Dup15q is characterized by hypotonia, developmental delay and intellectual disability (ID), epilepsy, and Autism spectrum disorder, however the severity of developmental disabilities can vary widely depending on the type of duplication that occurred and whether it was maternally or paternally derived. Currently there are no specific treatments for children with dup15q syndrome, however there are therapies available to address specific symptoms associated with dup15q syndrome, such as 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 on Dup15q? 

Children with 15q11-q13 duplications are at high risk for neurodevelopmental disabilities, particularly autism spectrum disorder (ASD) and intellectual disability (ID). The purpose of our research is to systematically characterize cognitive and social-communication abilities in children with dup15q syndrome, using standardized behavioral testing, play-based assessments, and EEG. The overarching goal is to determine if there are specific areas of strength or impairment that may serve as targets for behavioral intervention.

How do I participate in  studies related to Dup15q?

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 Dup15q. 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 Dup15q diagnosis. We are currently recruiting infants and toddlers with Duq15q or a non-syndromic diagnosis of ASD 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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