AI Insight
A comprehensive analysis reveals that Phelan-McDermid syndrome, a genetic disorder associated with autism spectrum disorder, may affect approximately 1 in 7,300 individuals, translating to over 45,000 people in the United States alone. This prevalence estimate is substantially higher than previously recognized, suggesting the condition has been significantly underdiagnosed. Researchers emphasize that many cases likely go undetected due to insufficient genetic testing in affected populations.
Why it matters
The findings highlight a critical gap in diagnostic practices that may be preventing thousands of individuals from receiving appropriate care and support. This is particularly urgent as targeted therapies for Phelan-McDermid syndrome are currently advancing through clinical trials, meaning undiagnosed patients could miss opportunities for treatment interventions.
Understand the Science
A major analysis suggests Phelan-McDermid syndrome, a genetic disorder closely linked to autism, may affect about 1 in 7,300 people and more than 45,000 Americans. Researchers warn that thousands of cases may remain hidden because genetic testing is often not performed, even as targeted treatments move into clinical trials.
Source: This “rare” autism-linked genetic disorder may be far more common than scientists thought