The Stats
If you've been following the latest in genetic research, you know that understanding neurodevelopmental differences is a huge deal. A new study out of the Seaver Autism Center for Research and Treatment at Mount Sinai just dropped, and it’s lowkey shifting everything we thought we knew about Phelan-McDermid syndrome (PMS).
Previous estimates for this rare genetic disorder were way off. Researchers now believe it affects about 1 in 7,300 people. To put that in perspective, there are likely more than 45,000 folks in the U.S. living with it right now. Real talk: that’s a massive gap between the number of people who actually have it and those who have a formal diagnosis.
Why the gap?
So, what’s happening? The researchers, who analyzed data from nearly 180,000 people with autism, point to a few reasons. Many people with developmental challenges are never offered genetic testing in the first place. Plus, even when testing happens, some insurance hurdles or specific types of tests just aren't looking closely enough at the SHANK3 gene, which is the root of the issue.
Why it matters
It’s giving 'knowledge is power.' PMS is caused by a mutation or deletion of the SHANK3 gene on chromosome 22, and it often overlaps with autism spectrum disorder.
"We recommend that every child with autism undergo genetic testing, because knowledge is power," says Joseph D. Buxbaum, PhD, Director of the Seaver Autism Center.
Being diagnosed isn't just about having a name for the symptoms; it opens the door to specialized care, support networks, and most importantly, new clinical trials. With precision medicine advancing, researchers are optimistic about potential therapies on the horizon. The goal now is to get more people tested so that no one misses out on the treatments that are currently in the works. It’s a W for the science community, but the focus is clearly on making sure patients get the care they deserve.
