Autism-Linked Genetic Disorder Far More Prevalent Than Previously Estimated, Study Finds
Phelan-McDermid syndrome (PMS), a rare genetic disorder frequently linked to autism spectrum disorder, may be significantly more common in the general population than previously recognized, according to a large-scale genetic analysis.
The study estimates the condition affects roughly 1 in 7,300 individuals, translating to more than 45,000 people in the United States alone. This prevalence rate is substantially higher than earlier assumptions, which had placed the disorder among the rarest of rare genetic conditions.
Researchers suggest that thousands of cases may be going undetected. A key factor appears to be that standard genetic testing protocols often do not include the specific analyses needed to identify PMS, leaving many individuals without a diagnosis. Without a confirmed genetic basis for their symptoms, patients may miss access to targeted interventions and emerging treatments.
The findings carry particular urgency given the landscape of therapeutic development. Several targeted treatments for Phelan-McDermid syndrome are currently advancing through clinical trials, raising concerns that undiagnosed patients could be excluded from potential benefits.
The authors emphasize the importance of broader genetic screening and increased clinical awareness to ensure that individuals with PMS can be identified and connected with appropriate care and research opportunities.