Biomarkers associated with Phelan-McDermid (22q13) Syndrome

Study ID
STU 062015-053

Cancer Related
No

Healthy Volunteers
Yes

Study Sites

  • Children’s Medical Center (Dallas, Plano, Southlake)
  • UT Southwestern-Other

Contact
Adrian Avila
214/648-5155
adrian.avila@utsouthwestern.edu

Principal Investigator
Craig Powell, M.D., Ph.D.

Summary

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).

Participant Eligibility

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