痴呆症在罕见的遗传神经发育障碍:一个系统的文献综述
Hadassa Kwetsie1, Malu van Schaijk1, Sven Van Der Lee1
1From 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.
痴呆症经常在患有罕见遗传神经发育障碍 (RGNDs) 的成年人中报告,通常是年轻发病的. 建议进行进一步的研究,以改善该群体的痴呆症查和诊断.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学是一种遗传学.
- 神经学 神经学
背景情况:
- 虽然在唐氏综合征中阿尔茨海默氏症得到了很好的研究,但罕见的遗传神经发育障碍 (RGNDs) 中的痴呆症仍然不太了解.
- 本综述解决了关于痴呆症和RGND成年人的认知/适应性轨迹的知识差距.
研究的目的:
- 提供关于痴呆症和RGNDs的成年人的认知/适应性变化的现有文献的全面概述.
- 在这个人群中识别痴呆症发病模式,临床特征和诊断方法.
主要方法:
- 在Embase,Medline ALL和PsycINFO进行了系统的文献审查.
- 搜索术语结合了痴呆症,认知/适应功能和RGND,利用Orphanet识别罕见疾病.
- 数据提取的重点是基因诊断,临床/神经病理特征,并发病症和诊断方法.
主要成果:
- 在14个不同的RGND中,有40个出版物报告了痴呆症,其中49人被诊断患有痴呆症 (发病时的平均年龄为44.4岁).
- ,精神疾病和运动障碍是与认知衰退相关的常见并发症.
- 诊断方法各不相同,MRI是最常见的额外调查.
结论:
- 关于RGNDs的衰老存在有限的文献,但报告表明,年轻发病痴呆症的流行率显著.
- 纵向研究对于理解神经发育和退行性途径至关重要.
- 建议提供了优化痴呆症查,诊断和研究在RGNDs的成年人.
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