罕见遗传性神经发育障碍中的痴呆：系统文献回顾。
Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review.
机构信息
From Emma's Children's Hospital (H.K., A.M.V.E.), University of Amsterdam; Advisium (H.K., E.B., A.M.V.E.), 's Heeren Loo Zorggroep, Amersfoort; Department on Aging (M.S.), Netherlands Institute of Mental Health and Addiction (Trimbos Institute), Utrecht; Alzheimer Center Amsterdam (S.V.D.L., Y.P.), Amsterdam University Medical Center; Section Genomics of Neurodegenerative Diseases and Aging (S.V.D.L.), Department of Human Genetics Amsterdam UMC; Intellectual Disability Medicine (D.M.-F.), Department of General Practice, Erasmus MC, University Medical Center Rotterdam; ENCORE Expertise Center for Neurocognitive Disorders and Department of Pediatric Neurology (L.W.T.H., M.C.Y.D.W.), Sophia Children's Hospital, Erasmus MC University Medical Center Rotterdam; Erasmus School of Health Policy & Management (L.W.T.H.), Erasmus University Rotterdam; Department of Clinical Genetics (M.M.H.); Department of Human Genetics (M.M.H.), Amsterdam UMC, University of Amsterdam; Emma Center for Personalized Medicine (M.M.H., A.M.V.E.), Amsterdam University Medical Centers; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam; Department of Neurology and Alzheimer Center Erasmus MC (E.V.D.B.), Erasmus MC University Medical Center, Rotterdam; Amsterdam Neuroscience (Y.P.), Neurodegeneration; Department of (Neuro)Pathology, Amsterdam Neuroscience (E.A.), Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; The Dalglish Family 22q Clinic (E.B.), University Health Network, Toronto, Canada; and Department of Psychiatry and Neuropsychology (E.B.), Maastricht University, Maastricht University, The Netherlands.
出版信息
Neurology. 2024 Jun 11;102(11):e209413. doi: 10.1212/WNL.0000000000209413. Epub 2024 May 17.
BACKGROUND AND OBJECTIVES
Knowledge of young-onset Alzheimer disease in adults with Down syndrome has greatly improved clinical care. However, little is known about dementia in rare genetic neurodevelopmental disorders (RGNDs). In this review, a comprehensive overview is provided of reports on dementia and cognitive/adaptive trajectories in adults with RGNDs.
METHODS
A systematic literature review was conducted in Embase, Medline ALL, and PsycINFO on December 6, 2022. The protocol was registered in PROSPERO (CRD42021223041). Search terms for dementia, cognitive and adaptive functioning, and RGNDs were combined using generic terms and the Orphanet database. Study characteristics and descriptive data on genetic diagnosis, clinical and neuropathologic features, comorbidities, and diagnostic methods were extracted using a modified version of the Cochrane Data Extraction Template.
RESULTS
The literature search yielded 40 publications (17 cohorts, 23 case studies) describing dementia and/or cognitive or adaptive trajectories in adults with 14 different RGNDs. Dementia was reported in 49 individuals (5 cohorts, 20 cases) with a mean age at onset of 44.4 years. Diagnostics were not disclosed for half of the reported individuals (n = 25/49, 51.0%). A total of 44 different psychodiagnostic instruments were used. MRI was the most reported additional investigation (n = 12/49, 24.5%). Comorbid disorders most frequently associated with cognitive/adaptive decline were epilepsy, psychotic disorders, and movement disorders.
DISCUSSION
Currently available literature shows limited information on aging in RGNDs, with relatively many reports of young-onset dementia. Longitudinal data may provide insights into converging neurodevelopmental degenerative pathways. We provide recommendations to optimize dementia screening, diagnosis, and research.
背景与目的
对唐氏综合征患者中早发性阿尔茨海默病的认识极大地改善了临床护理。然而，对于罕见的遗传性神经发育障碍（RGND）患者的痴呆症知之甚少。在本综述中，全面概述了 RGND 患者的痴呆症和认知/适应轨迹的报告。
方法
于 2022 年 12 月 6 日在 Embase、Medline ALL 和 PsycINFO 上进行了系统文献检索。该方案在 PROSPERO（CRD42021223041）中进行了注册。使用通用术语和 Orphanet 数据库结合了痴呆症、认知和适应功能以及 RGND 的搜索词。使用 Cochrane 数据提取模板的修改版本提取了研究特征和遗传诊断、临床和神经病理学特征、合并症以及诊断方法的描述性数据。
结果
文献检索产生了 40 篇描述了 14 种不同 RGND 成人中痴呆症和/或认知或适应轨迹的出版物（17 个队列，23 个病例研究）。报道了 49 名（5 个队列，20 例）平均发病年龄为 44.4 岁的个体的痴呆症。一半的报告个体（n = 25/49，51.0%）未披露诊断结果。共使用了 44 种不同的心理诊断工具。MRI 是报道最多的其他检查（n = 12/49，24.5%）。最常与认知/适应能力下降相关的合并症是癫痫、精神病和运动障碍。
讨论
目前可用的文献对 RGND 的老化信息有限，有相对较多的早发性痴呆症报告。纵向数据可能提供有关趋同神经发育退行性途径的见解。我们提供了优化痴呆症筛查、诊断和研究的建议。
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