This “rare” autism-linked genetic disorder may be far more common than scientists thought — SkimNews
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- Mount Sinai researchers led a major analysis estimating Phelan-McDermid syndrome affects 1 in 7,300 people, or about 13.7 per 100,000, using data from nearly 180,000 autistic individuals with genetic testing.
- Tess Levy stated that thousands of Phelan-McDermid syndrome cases likely remain undiagnosed due to limited access to genetic testing and insurance barriers, despite its strong link to autism.
- Joseph D. Buxbaum emphasized that every child with autism should receive genetic testing to enable participation in clinical trials and accelerate development of targeted therapies.
- Neuren Pharmaceuticals supported the study, with Rachel Groth calling diagnosis identification an 'ethical imperative' as new treatments advance toward clinical availability.
- CureSHANK is promoting the Start Genetic campaign to expand genetic testing access, noting tens of thousands may be living with undiagnosed Phelan-McDermid syndrome.
Why it matters: More than 45,000 Americans may have Phelan-McDermid syndrome, yet most remain undiagnosed due to uneven genetic testing access. With clinical trials underway, delayed diagnosis means patients miss timely entry into treatment studies, slowing therapeutic progress and widening health inequity for affected families.
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