New research led by scientists from the Seaver Autism Center for Research and Treatment at Mount Sinai, published in Autism Research, has estimated that Phelan-McDermid syndrome (PMS) affects approximately 1 in 7,300 people, making it dramatically more common than previous estimates suggested. Phelan-McDermid syndrome is a rare genetic condition that can cause a wide range of medical, intellectual, and behavioral challenges. The majority of patients also meet the criteria for autism spectrum disorder. The study analyzed data from nearly 180,000 individuals with autism who underwent genetic testing across ten independent sources, and found that thousands of individuals with the condition are likely undiagnosed, in large part due to underutilization of genetic testing. The findings arrive at a pivotal moment, with multiple Phelan-McDermid syndrome clinical trials now underway. Read more: mshs.co/4iJwwVY #Autism #PhelanMcDermidSyndrome #GeneticTesting #Research