Sensory physiology in Phelan-McDermid Syndrome
Phelan-McDermid Syndrome (PMS) is a neurodevelopmental disorder caused by deletions and other loss-of-function mutations of SHANK3 on chromosome 22q13. The clinical phenotype of PMS has been described in several case series and small prospective analyses, but systematic analyses of behavioral and brain alterations associated with PMS are urgently needed to establish behavioral endpoints for patients as therapies validated in animal model studies are translated into clinical trials. The proposed clinical study will comprehensively define the phenotypic traits associated with SHANK3 deletions/mutations in children with PMS including cognitive deficits, behavioral impairments, clinical and medical issues, and neurophysiological alterations.
Matthew W. Mosconi, Ph.D.
Associate Professor, Associate Scientist
Dole Human Development Center, Room 2018
University of Kansas
1000 Sunnyside Avenue
Lawrence, KS 66045-7555