Autism-Linked Genetic Disorder Phelan-McDermid Syndrome May Be More Common Than Previously Thought
New research from the Seaver Autism Center for Research and Treatment at Mount Sinai suggests that Phelan-McDermid syndrome (PMS), a genetic disorder strongly linked to autism, may be significantly more prevalent than earlier estimates indicated. The study, published in Autism Research, estimates that PMS affects approximately 1 in 7,300 people. This represents a substantial increase from previous figures, implying that over 45,000 individuals in the United States could be living with the condition, many of whom may be undiagnosed. PMS is caused by a deletion or mutation involving the SHANK3 gene on chromosome 22 and is associated with a wide range of medical, intellectual, and behavioral challenges, with most affected individuals also meeting the criteria for autism spectrum disorder. The research team analyzed genetic data from nearly 180,000 people with autism across ten different sources, including major genetic testing laboratories and research programs, to arrive at this revised prevalence estimate.
