Biomarkers and Cognition in Dup15q Syndrome

Children with 15q11-q13 duplications are at high risk  for neurodevelopmental disabilities, particularly autism spectrum disorder (ASD) and intellectual disability (ID). Recently, dup15q syndrome became the focus of research in the UCLA Intellectual and Developmental Disabilities Research Center (IDDRC). The IDDRC is an innovative, multidisciplinary center for research on the core causes of developmental disabilities. IDDRC studies are designed to lead to possible interventions to treat causes as well as improve quality of life for patients and their families. 

What is the purpose of the dup15q syndrome study?

This study aims to (1) quantify EEG biomarkers of dup15q syndrome and (2) characterize cognition and development in this population, using standardized behavioral testing, play-based assessments, eye tracking, and high density EEG. The overarching goal is to find EEG biomarkers and specific behavioral features that may serve as targets for behavioral and pharmacological intervention.

The study will involve approximately 1-2 days of testing, including parent questionnaires, behavioral evaluations of the child, and an awake, high density EEG. We will provide each family with detailed written and verbal feedback on the behavioral testing. 

Whom do we want to recruit for this study?

Our goal for this study is to recruit children ages 1-18 with either interstitial or isodicentric 15q11-q13 duplications. 

Whom do I contact?

Families who wish to learn more about this study, please contact:

Careese Stephens
UCLA IDDRC
UCLA Center for Autism Research and Treatment
cmstephens@mednet.ucla.edu
www.jestelab.org