New research led by scientists at the Seaver Autism Center for Research and Treatment at Mount Sinai suggests that Phelan-McDermid syndrome (PMS) may be much more common than earlier estimates indicated. The findings, published in Autism Research, estimate that the condition affects roughly 1 in 7,300 people. Phelan-McDermid syndrome is a rare genetic disorder caused by a deletion or mutation involving the SHANK3 gene on chromosome 22.
It can lead to a broad range of medical, intellectual, and behavioral challenges. Most people with the syndrome also meet the criteria for autism spectrum disorder, and changes affecting SHANK3 are believed to account for as many as one percent of autism spectrum disorder cases. Genetic Data Reveal a Much Larger Population To estimate how common the condition may be, Mount Sinai researchers worked with genetic testing laboratories, academic medical centers, and autism research programs.
The team examined data from nearly 180,000 people with autism who had undergone genetic testing. Their analysis combined information from ten separate sources, including GeneDx, Labcorp, Ambry Genetics, the SPARK research study, the Autism Sequencing Consortium, and several major children's hospitals. After accounting for undiagnosed cases, limits in genetic testing, and people with Phelan-McDermid syndrome who do not meet the criteria for autism, the researchers estimated a prevalence of 13.7 cases per 100,000 people.
That works out to about 1 in 7,300 individuals. The estimate represents a major change from previous figures and suggests that more than 45,000 people in the United States could be living with Phelan-McDermid syndrome. "The large gap between known and estimated cases is likely due in large part to the fact that many individuals with developmental disabilities and autism are never offered genetic testing.
Families may also face insurance barriers or may receive tests that do not adequately evaluate the SHANK3 gene," said Tess Levy, MSc, Assistant Professor of Psychiatry at the Icahn School of Medicine at Mount Sinai, a certified genetic counselor at the Seaver Autism Center, and first author of the paper. The researchers say broader access to genetic testing could help identify people who currently have no diagnosis. "We recommend that every child with autism undergo genetic testing, because knowledge is power.
These genetic findings allow researchers to design more targeted clinical trials for potential therapies. I truly believe that within the next five years, we'll see successful examples of new treatments coming from these genetic discoveries," said Joseph D. Buxbaum, PhD, Director of the Seaver Autism Center, co-founder of the Autism Sequencing Consortium, and senior author of the paper.
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