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A "rare" genetic disorder linked to autism may actually affect tens of thousands of undiagnosed Americans. New research from Mount Sinai estimates Phelan-McDermid syndrome affects roughly 1 in 7,300 people — far more than previously believed. Researchers say the gap is largely due to limited access to genetic testing, even as targeted treatments are entering clinical trials.
A major new analysis from the Seaver Autism Center at Mount Sinai is reshaping our understanding of Phelan-McDermid syndrome (PMS), a genetic disorder caused by deletions or mutations in the SHANK3 gene on chromosome 22. Long considered rare, PMS may actually affect roughly 1 in 7,300 people — translating to more than 45,000 Americans — according to findings published in Autism Research. Most individuals with PMS also meet criteria for autism spectrum disorder, and SHANK3 changes are thought to account for up to 1% of all autism cases.
The research team analyzed data from nearly 180,000 people with autism across ten sources — including major genetic labs and children's hospitals — to arrive at a prevalence estimate of 13.7 cases per 100,000 people. Researchers attribute the large gap between known and estimated cases to a lack of routine genetic testing, insurance barriers, and tests that don't adequately evaluate the SHANK3 gene.
By the Numbers:
Why it matters: With multiple PMS-targeted therapies now entering clinical trials, identifying undiagnosed patients has become urgent. A genetic diagnosis can unlock access to specialized care, research studies, and potentially disease-modifying treatments — but only if patients are tested in the first place.
