Department of Physiology and Immunology, College of Medicine, and Health Sciences, Khalifa University, 127788, Abu Dhabi, United Arab Emirates.
Healthcare Engineering Innovation Center (HEIC), Khalifa University, 127788, Abu Dhabi, United Arab Emirates.
J Neurol. 2024 Jan;271(1):87-104. doi: 10.1007/s00415-023-11890-0. Epub 2023 Aug 10.
The most common genetic cause of intellectual disability is Down syndrome (DS), trisomy 21. It commonly results from three copies of human chromosome 21 (HC21). There are no mutations or deletions involved in DS. Instead, the phenotype is caused by altered transcription of the genes on HC21. These transcriptional variations are responsible for a myriad of symptoms affecting every organ system. A very debilitating aspect of DS is intellectual disability (ID). Although tremendous advances have been made to try and understand the underlying mechanisms of ID, there is a lack of a unified, holistic view to defining the cause and managing the cognitive impairments. In this literature review, we discuss the mechanisms of neuronal over-inhibition, abnormal morphology, and other genetic factors in contributing to the development of ID in DS patients and to gain a holistic understanding of ID in DS patients. We also highlight potential therapeutic approaches to improve the quality of life of DS patients.
智力障碍最常见的遗传原因是唐氏综合征（Down syndrome，DS），即 21 三体。它通常是由人类 21 号染色体（human chromosome 21，HC21）的三个拷贝引起的。DS 中没有涉及突变或缺失。相反，表型是由 HC21 上基因的转录改变引起的。这些转录变化导致影响每个器官系统的无数症状。DS 的一个非常虚弱的方面是智力障碍（intellectual disability，ID）。尽管为了试图理解 ID 的潜在机制已经取得了巨大的进展，但缺乏一个统一的、整体的观点来定义其病因和管理认知障碍。在这篇文献综述中，我们讨论了神经元过度抑制、异常形态和其他遗传因素在导致 DS 患者 ID 发展中的作用，并全面了解 DS 患者的 ID。我们还强调了改善 DS 患者生活质量的潜在治疗方法。
