This “rare” autism-linked genetic disorder may be far more common than scientists thought

New research led by scientists at the Seaver Autism Center for Research and Treatment at Mount Sinai suggests that Phelan-McDermid syndrome (PMS) may be much more common than earlier estimates indicated. The findings, published in Autism Research , estimate that the condition affects roughly 1 in 7,300 people.

Phelan-McDermid syndrome is a rare genetic disorder caused by a deletion or mutation involving the SHANK3 gene on chromosome 22. It can lead to a broad range of medical, intellectual, and behavioral challenges. Most people with the syndrome also meet the criteria for autism spectrum disorder, and changes affecting SHANK3 are believed to account for as many as one percent of autism spectrum disorder cases.

Genetic Data Reveal a Much Larger Population