Ruparelia Aarti, Pearn Matthew L, Mobley William C
Department of Neurodegenerative Disease, UCL Institute of Neurology, London, WC1N 3BG, United Kingdom.
Dev Disabil Res Rev. 2013;18(1):43-50. doi: 10.1002/ddrr.1127.
Down syndrome (DS) is one of many causes of intellectual disability (ID), others including but not limited to, fetal alcohol syndrome, Fragile X syndrome, Rett syndrome, Williams syndrome, hypoxia, and infection. Down syndrome is characterized by a number of neurobiological problems resulting in learning and memory deficits and early onset Alzheimer's disease. The cognitive impairment in people with DS is virtually universal but varies considerably with respect to expressivity and severity. Significant advances in medical treatment and social inclusion have increased longevity in people with DS resulting in an increased aging population, thus highlighting the significance of early onset of dementia and the importance of identifying pharmacotherapies to treat DS-associated health complications in adults. Given its prevalence and established mouse models, this review will focus on ID in the DS population; specifically, the superimposed effect of aging on the complications already manifest in DS adults and the cognitive insights gained from studies on mouse models of DS.
唐氏综合征(DS)是智力残疾(ID)的众多病因之一,其他病因包括但不限于胎儿酒精综合征、脆性X综合征、雷特综合征、威廉姆斯综合征、缺氧和感染。唐氏综合征的特征是一系列神经生物学问题,导致学习和记忆缺陷以及早发性阿尔茨海默病。唐氏综合征患者的认知障碍几乎是普遍存在的,但在表现度和严重程度方面差异很大。医学治疗和社会融合方面的重大进展延长了唐氏综合征患者的寿命,导致老年人口增加,从而凸显了痴呆症早发的重要性以及确定药物疗法以治疗成年唐氏综合征患者相关健康并发症的重要性。鉴于其患病率和已建立的小鼠模型,本综述将聚焦于唐氏综合征人群中的智力残疾;具体而言,衰老对唐氏综合征成年人已出现的并发症的叠加影响,以及从唐氏综合征小鼠模型研究中获得的认知见解。