INSULIN-LIKE GROWTH FACTOR-1 FOR PHELIN-McDERMID SYNDROME, A RARE AUTISM-RELATED SYNDROME

Phelin-McDermid Syndrome (PMS) is a rare genetic syndrome, with a wide range of severity of symptoms, including intellectual disabilities, sleep disorders, and seizures, as well as motor and vocalization symptoms. PMS is caused by disruption of the SHANK3/ProSAP2 gene on the terminal of chromosome 22. Approximately 600 cases are known worldwide, but numbers are expected to increase as new genomic testing methods have made clinical testing more widely available.

Dr. Joseph Buxbaum and colleagues demonstrated that Shank-3 deficient mice benefit from IGF-1, with improvement of deficiencies in adaptation of nerve cells