Jain Aruna, VanSickle Elizabeth, Zitano Lia, Moss Timothy, Schrader Erica
College of Human Medicine, Michigan State University College of Human Medicine, Grand Rapids, MI, United States.
Medical Genetics, Corewell Health Helen DeVos Children's Hospital, Grand Rapids, MI, United States.
Front Psychiatry. 2025 Jun 9;16:1532982. doi: 10.3389/fpsyt.2025.1532982. eCollection 2025.
We describe a 43-year-old man with neurodevelopmental disorder (NDD) with features of autism spectrum disorder (ASD) due to a rare pathogenic variant in the gene. There are only 5 young adults described in the literature with -related NDD; there are currently no reports of middle-aged or elderly adults with the condition. The most common clinical characteristics include ASD, intellectual disability (ID), speech-language problems, repetitive behaviors, and seizures.
This case report highlights an adult phenotype of -related NDD with goals to 1.) contribute insight into a rare genetic variant leading to NDD with ASD features and 2.) highlight adult manifestations of related NDD as a patient in middle adulthood with the condition has not yet been reported.
我们描述了一名43岁患有神经发育障碍（NDD）的男性，其具有自闭症谱系障碍（ASD）的特征，病因是该基因中的一种罕见致病变异。文献中仅描述了5名患有与该基因相关的NDD的年轻人；目前尚无关于中年或老年成年人患有该病的报道。最常见的临床特征包括ASD、智力残疾（ID）、言语语言问题、重复行为和癫痫发作。
本病例报告突出了与该基因相关的NDD的成人表型，目标是1.）深入了解导致具有ASD特征的NDD的罕见基因变异，2.）突出相关NDD的成人表现，因为尚未有关于中年成年患者患有该病的报道。
