Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational
Official Title: Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
Brief Summary: The purpose of this study is to comprehensively characterize PMS using standardized medical, cognitive, and behavioral measures and to track the natural history of the syndrome using repeated longitudinal assessments. In addition, this study will be aiming to identify biomarkers using neuroimaging, including difusion tensor imaging and identify genetic factors which contribute to diverse phenotypes in patients with PMS.