Phelan-McDermid Syndrome (PMS) is a rare genetic syndrome in which one copy of the q13 portion of chromosome 22 is missing. The neurological and psychiatric phenotypes are due to loss of the SHANK3 gene contained in the q13 portion of chromosome 22. Mutations in the SHANK3 gene also produce a syndrome with the neurological and behavioral aspects of PMS.
News & Events
New Clinical Study Evaluates First Drug to Show Improvement in Subtype of Autism
Researchers at the Seaver Autism Center, led by Dr. Alex Kolevzon, have begun a clinical trial to evaluate insulin-like growth factor in children who have SHANK3 deficiency, a known cause of autism spectrum disorder. Click here to read the press release! To view all posts, please click here.
Testing & Evaluation
Families coping with a diagnosis of PMS, 22q13DS, or a SHANK3 mutation or who are looking to learn more about the condition have resources available to them.
The Seaver Autism Center at Mount Sinai School of Medicine
The Seaver Autism Center offers comprehensive assessment and care for people with developmental delay, including autism spectrum conditions and associated disorders. The Center works with families affected with PMS, 22q13DS, and SHANK3 mutations.