Biomarkers associated with Phelan-McDermid (22q13) Syndrome
- Children’s Medical Center (Dallas, Plano, Southlake)
- UT Southwestern-Other
Craig Powell, M.D., Ph.D.
Thirty subjects with pathogenic deletions or mutations of the SHanK3 gene and 30 age-matched healthy controls will be examined in this cross-sectional study. novel, translational approaches will characterize sensory alterations using quantitative electrophysiological assessments (resting eeG and auditory eRP tests) and motor abnormalities (postural stability and git kinematics) in PMS. We also will assess multiple aspects of cognitive function in PMS using standardized assessments of a broad range of developmental abilities and using computerized cognitive tests that are developmentally appropriate for a wide age range of individuals with intellectual/developmental disabilities. Serum iGF-1 levels will be measured using radioimmunoassay (Ria).
Participants with PMS:
(1) age 3 to 35 years
(2) a pathogenic deletion or mutation of the SHANK3 gene
Controls (matched on age and gender ratio)
(1) a full scale IQ in the average range ((+ or -) 1SD, i.e. 85-115)
(2) no known family history of an intellectual disability or Autism Spectrum Disorder