Mount Sinai医学中心研究人员最新发现，与自闭症密切相关的遗传性疾病Phelan-McDermid综合征的实际患病率远超科学界此前的估计1。该研究基于来自GeneDx、Labcorp、Ambry Genetics、SPARK研究和自闭症测序联盟等十个来源的近18万名接受遗传检测的自闭症患者数据，将患病率重新估算为13.7/100000人，即约1/7300人1。这意味着美国可能有超过45000名Phelan-McDermid综合征患者1。
导致患病率被严重低估的主要原因是诊断不足1。许多患有发育障碍和自闭症的患者从未进行过遗传检测，因此病情未被识别1。相关数据显示，SHANK3基因变异被认为约占自闭症谱系障碍病例的1%1。随着针对该疾病的精准医学方法进入临床试验阶段，扩大遗传检测的可及性变得尤为重要1。研究人员表示真诚相信在未来五年内，这些遗传发现将带来成功的治疗范例1。该研究得到CureSHANK和Neuren Pharmaceuticals的支持1。
Researchers at Mount Sinai's Seaver Autism Center have determined that Phelan-McDermid syndrome, a genetic disorder closely associated with autism, occurs at a significantly higher rate than previously estimated.1 The condition, caused by variations in the SHANK3 gene, affects approximately one in 7,300 people, or roughly 13.7 per 100,000 individuals.1 This prevalence estimate suggests that more than 45,000 Americans may be living with the disorder.1
The findings emerge from an analysis of genetic testing data spanning nearly 180,000 individuals with autism spectrum disorder from ten sources, including GeneDx, Labcorp, Ambry Genetics, the SPARK research initiative, and the Autism Sequencing Consortium.1 Researchers discovered that many cases remain undiagnosed due to the lack of genetic testing among individuals with developmental and autism-related conditions.1 According to the team, SHANK3 gene variations account for approximately 1 percent of autism spectrum disorder cases.1
The expanded prevalence estimates carry particular significance as targeted therapies for the disorder enter clinical trial phases.1 Tess Levy emphasized that "many individuals with developmental disabilities and autism have never undergone genetic testing," underscoring the diagnostic gap in current practice.1 Joseph D. Buxbaum expressed confidence that "within the next five years, we will see successful treatment examples emerging from these genetic discoveries."1 Multiple clinical trials investigating precision medicine approaches to address the biological basis of the disease are currently underway.1 The research received support from CureSHANK and Neuren Pharmaceuticals.1
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