儿童痴呆症的集体负担:一个范围审查
Kristina L Elvidge1, John Christodoulou2,3, Michelle A Farrar4,5
1Childhood Dementia Initiative, Brookvale, NSW 2100, Australia.
Brain : a journal of neurology
|July 20, 2023
概括
儿童痴呆症是一组170种遗传性神经退行性疾病,每2900名新生儿中就有1名患有这种疾病. 本次审查澄清了定义并量化了集体负担,揭示了治疗开发的重大未满足需求.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 儿童痴呆症包括在儿童和青少年时期出现的罕见的单一性神经退行性疾病.
- 这些疾病会导致渐进的神经认知障碍,并代表着大量未满足的医疗需求.
- 现有的研究往往单独解决这些疾病,缺乏集体概述.
研究的目的:
- 澄清儿童痴呆症的定义和概念界限.
- 量化这些疾病的集体疾病负担.
- 建立一个促进治疗开发和支持服务的基础.
主要方法:
- 范围审查确定了符合儿童痴呆症确定的病例定义的条件.
- 一个专家临床工作组审查并批准了所确定的疾病的纳入.
- 从文献中提取了流行病学数据,并模拟了集体负担.
主要成果:
- 确定了170种不同的遗传儿童痴呆症疾病.
- 无法治疗的儿童痴呆症的发病率估计为每10万例出生34.5例,平均预期寿命为9年.
- 大约70%的过早死亡发生在成年之前,可治疗的疾病对每10万例新生儿增加49.8例.
结论:
- 这项研究提供了对单一性儿童痴呆症状况及其流行病学的首次全面概述.
- 一致的定义和语言对于联合治疗开发和医疗服务支持的努力至关重要.
- 建立一个统一的理解和数据库 (https://knowledgebase.childhooddementia.org/) 对这个弱势患者群体至关重要.
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