罕见遗传神经发育障碍患者及其家庭/护理人员在医疗保健中的价值观:为指导发展指南提供信息的范围审查
Mirthe J Klein Haneveld1,2, Louise Cox1, Petri J C M Embregts3
1Amsterdam Reproduction & Development, Amsterdam Public Health, Amsterdam UMC, University of Amsterdam, Emma Children's Hospital, Amsterdam, the Netherlands.
Journal of intellectual disability research : JIDR
|March 6, 2026
概括
患有罕见遗传神经发育障碍 (RGNDs) 和智力障碍 (ID) 的人重视在医疗保健中的自主性和联系. 准则的制定必须考虑家庭的影响和身份,以便更好地做出决策.
科学领域:
- 医学遗传学 医学遗传学
- 神经发育障碍 神经发育障碍
- 医疗保健决策 - - 医疗保健决策
背景情况:
- 由于终身需求和沟通障碍,与智力障碍 (ID) 相关的罕见遗传神经发育障碍 (RGND) 的医疗保健是复杂的.
- 对RGND的临床实践指南必须使用证据到决策框架将患者和家庭的价值观纳入.
- 本综述确定了RGND和ID患者及其家庭/护理人员在医疗保健中的关键价值观.
研究的目的:
- 将RGND和ID的个体及其家人/护理人员的医疗保健价值观的证据映射出来.
- 为RGNDs制定临床实践指南提供信息.
主要方法:
- 一个范围审查系统地搜索了MEDLINE,Embase,PsycINFO和CINAHL (2000-2025年).
- 包括的研究报告了有关RGND患者和/或其家庭/护理人员在医疗机构中的定性数据.
- 使用诱导性内容分析来识别和映射值.
主要成果:
- 包括125篇文章,主要关注家庭/护理人员的观点和像唐氏综合征这样的常见疾病.
- 确定的关键价值包括自主,以人为中心的护理,专业能力,医疗保健的可访问性和缺乏耻辱感.
- 决策考虑包括平衡个人/家庭的益处和危害,不确定性,健康优先事项和身份.
结论:
- 准则制定者应将家庭层面的影响和身份考虑纳入RGNDs的证据到决策过程.
- 需要进一步的研究,以包括ID个体的观点,他们目前代表性不足.
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