9/30/2026
Vital Signs · medicine

This “rare” autism-linked genetic disorder may be far more common than scientists thought

Filed by Dr. Iris Vale
This “rare” autism-linked genetic disorder may be far more common than scientists thought
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.
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Dr. Iris Vale
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This “rare” autism-linked genetic disorder may be far more common than scientists thought — Vital Signs