Department of Clinical Genetics, Juntendo University, 2-1-1, Hongo, Bunkyo-Ku, Tokyo, 113-8421, Japan.
The Medical Center for Dementia, Juntendo Hospital, Tokyo, Japan.
Neurol Sci. 2024 Jun;45(6):2445-2460. doi: 10.1007/s10072-023-07292-9. Epub 2024 Jan 16.
The diagnostic criteria for adult-onset Alzheimer's disease (AD) in patients with Down syndrome (DS) have not been standardised. This study investigated the specific symptoms of AD in the prodromal stage of DS, the mean age at diagnosis at each stage of dementia, and the relationship between intellectual disability (ID) and dementia. PubMed, Web of Science, and Embase were searched for studies on DS, AD, early-stage disease, initial symptoms, and prodromal dementia registered between January 2012 and January 2022. We also performed a meta-analysis of the differences between the mean age at prodromal symptoms and AD diagnosis and the proportion of mild cognitive impairment in patients with mild and moderately abnormal ID. We selected 14 articles reporting the behavioural and psychological symptoms of dementia (BPSD) and memory- and language-related impairments as early symptoms of AD in patients with DS. The specific symptoms of BPSD were classified into five categories: irritability (agitation), apathy, abnormal behaviour, adaptive functioning, and sleep disturbance. The mean age at the diagnosis of prodromal symptoms and AD dementia was 52.7 and 56.2 years, respectively (mean difference, + 3.11 years; 95% CI 1.82-4.40) in the meta-analysis. The diagnosis of mild dementia tended to correlate with ID severity (odds ratio [OR], 1.38; 95% CI 0.87-2.18). The features of behaviour-variant frontotemporal dementia may be clinically confirmed in diagnosing early symptoms of DS-associated AD (DSAD). Moreover, age-appropriate cognitive assessment is important. Further studies are required to evaluate DSAD using a combination of biomarkers and ID-related data.
用于唐氏综合征（DS）患者的成人发病型阿尔茨海默病（AD）诊断标准尚未标准化。本研究调查了 DS 疾病前阶段 AD 的特定症状、痴呆各阶段的诊断平均年龄，以及智力障碍（ID）与痴呆的关系。通过PubMed、Web of Science 和 Embase 检索了 2012 年 1 月至 2022 年 1 月期间发表的关于 DS、AD、早期疾病、初始症状和疾病前痴呆的研究。我们还对疾病前症状和 AD 诊断的平均年龄差异以及轻度和中度异常 ID 患者轻度认知障碍的比例进行了荟萃分析。我们选择了 14 篇报告 DS 患者 AD 早期症状的行为和心理症状的痴呆（BPSD）和记忆及语言相关障碍的文章。BPSD 的特定症状分为五类：易怒（激越）、淡漠、异常行为、适应功能和睡眠障碍。疾病前症状和 AD 痴呆的诊断平均年龄分别为 52.7 和 56.2 岁（平均差异，+3.11 岁；95%CI 1.82-4.40）。轻度痴呆的诊断倾向于与 ID 严重程度相关（比值比[OR]，1.38；95%CI 0.87-2.18）。行为变异型额颞叶痴呆的特征可能在诊断 DS 相关 AD（DSAD）的早期症状时得到临床确认。此外，进行适当年龄的认知评估很重要。需要进一步的研究来使用生物标志物和 ID 相关数据的组合来评估 DSAD。
