The Hannah's Gift Briefing
This “rare” autism-linked genetic disorder may be far more common than scientists thought
A new Mount Sinai analysis estimates Phelan-McDermid syndrome, a genetic disorder linked to autism, affects roughly 1 in 7,300 people — potentially more than 45,000 Americans — far more than previously thought. Researchers say thousands of cases likely go undetected because genetic testing is not routinely offered to people with autism or developmental disabilities. Insurance barriers and tests that inadequately evaluate the SHANK3 gene also contribute to the diagnostic gap.
What this means for families: asking a child's doctor about genetic testing for autism-related conditions may help families access a diagnosis and emerging targeted treatments.