Down syndrome (DS) is one of the most well-recognized genetic disorders. Persons with DS are known to have a variety of co-morbid medical problems, affecting nearly all organ systems. Improved healthcare interventions and research have allowed for increased life span of persons with DS, although disorders of the neurologic system remain underexplored. The purpose of this systematic review is to provide clinically pertinent information on the neurological phenotypes of frequently occurring or clinically relevant conditions. A retrospective review of MEDLINE, Scopus, and Pubmed were used to identify sources among seventeen, clinically relevant, search categories. MeSH terms all contained the phrase “Down Syndrome” in conjunction with the topic of interest. ‘Frequently-occurring’ was defined as prevalent in more than 10% of persons with DS across their lifespan, whereas ‘clinically-relevant’ was defined as a disease condition where early diagnosis or intervention can augment the disease course. In total, 4896 sources were identified with 159 sources meeting criteria for inclusion. Seventeen clinical conditions were grouped under the following subjects: hypotonia, intellectual and learning disability, cervical instability, autism spectrum disorder, epilepsy, cerebrovascular disease, Alzheimer’s disease and neuropsychiatric disease. The results of this review provide a blueprint for the clinical neurologist taking care of persons with DS across the age spectrum and indicate that there are many underrecognized and misdiagnosed co-occurring conditions in DS, highlighting the need for further research.

唐氏综合症 (DS) 是最广为人知的遗传疾病之一。众所周知，患有 DS 的人有多种合并症，几乎影响所有器官系统。尽管神经系统疾病仍未得到充分探索，但改进的医疗干预措施和研究已使 DS 患者的寿命延长。本系统评价的目的是提供有关经常发生或临床相关病症的神经表型的临床相关信息。使用 MEDLINE、Scopus 和 Pubmed 的回顾性审查来确定 17 个临床相关搜索类别中的来源。MeSH 术语都包含短语“唐氏综合症”以及感兴趣的主题。“经常发生”被定义为在超过 10% 的 DS 患者的一生中普遍存在，而“临床相关”被定义为早期诊断或干预可以增加病程的疾病状况。总共确定了 4896 个来源，其中 159 个来源符合纳入标准。17 种临床病症被归类为以下主题：肌张力减退、智力和学习障碍、颈椎不稳、自闭症谱系障碍、癫痫、脑血管疾病、阿尔茨海默病和神经精神疾病。本综述的结果为临床神经科医生在各个年龄段照顾 DS 患者提供了蓝图，并表明 DS 中存在许多未被充分认识和误诊的并发疾病，突出了进一步研究的必要性。