Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome (PMS)

Study Title

Mapping the genotype, phenotype, and natural history of Phelan-McDermid syndrome (PMS).

Study Protocol Description:

SHANK3 is a critical gene involved in coding how brain cells “talk” to each other. Loss of one copy of the SHANK3 gene leads to a disorder called Phelan-McDermid syndrome. Many people with Phelan-McDermid syndrome also have autism. As part of this study, we are studying and tracking the progression of people with Phelan-McDermid syndrome to better understand the underlying biological processes and long-term course of this genetic disorder.

Study Eligibility Criteria:

You or your child may be eligible to participate if you meet the following criteria:

  • Are least 18 months old.
  • Have pathogenic deletions or mutations of the SHANK3 gene.
  • Speak English as a primary language.

If you're interested in participating in this study, please email allison_wainer@rush.edu.

Study Details

Contact Information

Allison Wainer