{"id":1674,"date":"2026-09-25T14:50:17","date_gmt":"2026-09-25T14:50:17","guid":{"rendered":"https:\/\/tcjsj.com\/?p=1674"},"modified":"2026-09-25T14:50:17","modified_gmt":"2026-09-25T14:50:17","slug":"landmark-study-reveals-phelan-mcdermid-syndrome-is-considerably-more-common-than-previously-estimated","status":"publish","type":"post","link":"https:\/\/tcjsj.com\/?p=1674","title":{"rendered":"Landmark Study Reveals Phelan-McDermid Syndrome Is Considerably More Common Than Previously Estimated"},"content":{"rendered":"

New research led by scientists at the Seaver Autism Center for Research and Treatment at the Icahn School of Medicine at Mount Sinai suggests that Phelan-McDermid syndrome (PMS)\u2014a rare genetic disorder associated with a wide range of medical, intellectual, and developmental challenges\u2014may be substantially more common than earlier estimates indicated. The findings, which were recently published in the scientific journal Autism Research<\/em>, estimate that the condition affects roughly 1 in every 7,300 individuals. <\/p>\n

Phelan-McDermid syndrome is caused by a genetic deletion or mutation involving the SHANK3<\/em> gene located on chromosome 22. This specific gene plays a critical role in the formation and function of synapses, the connections between nerve cells in the brain. When the gene is altered or missing, it can trigger a broad spectrum of complex medical symptoms, intellectual disabilities, and behavioral differences. The vast majority of individuals diagnosed with the syndrome also meet the diagnostic criteria for autism spectrum disorder. In fact, changes and mutations affecting the SHANK3<\/em> gene are widely believed by researchers to account for as many as one percent of all autism spectrum disorder cases globally.<\/p>\n

Genetic Data Reveal a Much Larger Population<\/h2>\n

To arrive at a more accurate and comprehensive estimate of how common the condition truly is, researchers at Mount Sinai joined forces with leading genetic testing laboratories, prominent academic medical centers, and large-scale autism research programs. Together, the research team conducted an expansive examination of genetic data drawn from nearly 180,000 individuals diagnosed with autism who had previously undergone comprehensive genetic testing.<\/p>\n

This methodical analysis successfully integrated information collected from ten distinct and reputable sources. Among them were major commercial and clinical genetic testing providers and initiatives such as GeneDx, Labcorp, Ambry Genetics, the landmark SPARK research study, the Autism Sequencing Consortium, and data contributed by several major children’s hospitals. <\/p>\n

To calculate the true prevalence, the investigators carefully accounted for various real-world variables, including undiagnosed cases, historical limitations in genetic testing technologies, and individuals living with Phelan-McDermid syndrome who do not happen to meet the clinical criteria for autism spectrum disorder. After adjusting for these factors, the researchers estimated a prevalence rate of 13.7 cases per 100,000 people. When broken down, this figure translates to approximately 1 in every 7,300 individuals.<\/p>\n

This newly calculated prevalence estimate represents a significant shift from previous figures found in medical literature. Furthermore, it suggests that more than 45,000 people living in the United States alone could potentially be affected by Phelan-McDermid syndrome.<\/p>\n

Tess Levy, MSc, an Assistant Professor of Psychiatry at the Icahn School of Medicine at Mount Sinai, a certified genetic counselor at the Seaver Autism Center, and the first author of the published research paper, shed light on why the disparity between known and estimated cases has persisted for so long.<\/p>\n

"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," Levy explained. "Families may also face insurance barriers or may receive tests that do not adequately evaluate the SHANK3<\/em> gene."<\/p>\n

Why Genetic Testing Could Matter<\/h2>\n

The implications of this research extend far beyond epidemiological statistics. The study authors emphasize that broader, more routine access to advanced genetic testing could fundamentally change the trajectory of countless lives by helping to identify patients who currently live without an accurate diagnosis.<\/p>\n

Joseph D. Buxbaum, PhD, Director of the Seaver Autism Center, co-founder of the Autism Sequencing Consortium, and senior author of the research paper, underscored the vital importance of clinical genetics in modern pediatric and psychiatric care.<\/p>\n

"We recommend that every child with autism undergo genetic testing, because knowledge is power," said Dr. Buxbaum. "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."<\/p>\n

This comprehensive study was supported by CureSHANK and Neuren Pharmaceuticals, and it is already being widely recognized as one of the most thorough and robust attempts to date to calculate the true population-level impact of Phelan-McDermid syndrome.<\/p>\n

Rachel Groth, PhD, Head of External Innovation and Patient Advocacy at Neuren Pharmaceuticals, emphasized the ethical imperatives driving commercial and academic investment in this area. <\/p>\n

"Neuren Pharmaceuticals initiated this landmark PMS prevalence study in collaboration with the Seaver Autism Center at Mount Sinai and CureSHANK because, with new treatments moving closer to reality, identifying these individuals has become an ethical imperative," noted Dr. Groth. "Patients cannot benefit from these advances if they never receive a diagnosis."<\/p>\n

New Treatments Are Moving Into Clinical Trials<\/h2>\n

The release of these findings comes at a uniquely pivotal time for the field of Phelan-McDermid syndrome research. Several clinical trials are currently underway, exploring innovative precision medicine approaches designed to target the specific biological mechanisms underlying the disorder. <\/p>\n

For individuals diagnosed with the condition and for their families, obtaining a definitive genetic diagnosis can now signify much more than simply learning the root cause of developmental symptoms. A formal diagnosis can unlock doors to specialized medical care, enrollment in dedicated research studies, participation in clinical trials, access to vital patient support networks, and potentially life-changing, disease-modifying treatments as they become available.<\/p>\n

Geraldine Bliss, Board Chair of CureSHANK, reflected on the profound relief and validation the study brings to advocacy communities and families who have long suspected that the syndrome was severely underdiagnosed.<\/p>\n

"This study confirms what many families, clinicians, and advocates have suspected for years," Bliss said. "There are likely tens of thousands of individuals with Phelan-McDermid syndrome who have never received a genetic diagnosis. At a time when multiple therapeutics are advancing into clinical trials, finding these individuals has never been important."<\/p>\n

The results of the study also reinforce ongoing organizational initiatives by CureSHANK to expand equitable access to comprehensive genetic testing. These efforts align closely with the goals of Start Genetic, a global awareness campaign designed to encourage patients, families, healthcare providers, and advocacy groups to prioritize genetic evaluation from the outset. <\/p>\n

Ultimately, the overarching message from researchers, clinicians, and advocates alike is that modern advances in precision medicine and targeted therapeutics can only fulfill their promise if patients are first identified, evaluated, and accurately diagnosed.<\/p>\n","protected":false},"excerpt":{"rendered":"

New research led by scientists at the Seaver Autism Center for Research and Treatment at the Icahn School of Medicine at Mount Sinai suggests that Phelan-McDermid syndrome (PMS)\u2014a rare genetic disorder associated with a wide range of medical, intellectual, and developmental challenges\u2014may be substantially more common than earlier estimates indicated. The findings, which were recently […]<\/p>\n","protected":false},"author":14,"featured_media":1673,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[455],"tags":[780,2669,457,2671,1735,2667,2666,2670,84,753,456,458,892,2668],"class_list":["post-1674","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-science","tag-common","tag-considerably","tag-discovery","tag-estimated","tag-landmark","tag-mcdermid","tag-phelan","tag-previously","tag-research","tag-reveals","tag-science","tag-space","tag-study","tag-syndrome"],"_links":{"self":[{"href":"https:\/\/tcjsj.com\/index.php?rest_route=\/wp\/v2\/posts\/1674","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/tcjsj.com\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/tcjsj.com\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/tcjsj.com\/index.php?rest_route=\/wp\/v2\/users\/14"}],"replies":[{"embeddable":true,"href":"https:\/\/tcjsj.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=1674"}],"version-history":[{"count":0,"href":"https:\/\/tcjsj.com\/index.php?rest_route=\/wp\/v2\/posts\/1674\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/tcjsj.com\/index.php?rest_route=\/wp\/v2\/media\/1673"}],"wp:attachment":[{"href":"https:\/\/tcjsj.com\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=1674"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/tcjsj.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=1674"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/tcjsj.com\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=1674"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}