罕见疾病的数字健康:对人工智能,互联护理和用于溶酶体存储障碍的数字技术进行全面审查
Alberta M C Spreafico1,2,3, Luca Neri4,5, Kim Angel6
1Health Innovation, EVERSANA INTOUCH, Palazzo Innovazione Piazza Abate Conforti, Salerno, IT.
Journal of medical Internet research
|February 9, 2026
概括
数字健康技术,包括人工智能和互联护理,对罕见疾病管理,特别是溶酶体储存障碍有很大的前景. 需要进一步的研究来解决证据缺口,并指导实施.
科学领域:
- 医疗信息学 医疗信息学
- 罕见疾病研究 罕见疾病研究
- 数字健康数字健康
背景情况:
- 罕见疾病 (RDs) 影响全球超过3亿人,仅有有限的批准疗法.
- 溶酶体储存障碍 (LSD) 带来了复杂的护理挑战.
- 数字健康技术 (DHT),包括人工智能和互联护理 (CC),正在成为LSD管理的支持工具.
研究的目的:
- 在过去的十年里,为LSD护理绘制和合成DHT文献.
- 专注于支持人工智能和CC解决方案,同时绘制其他支持DHT的地图.
- 确定研究,临床和政策差距和优先事项.
主要方法:
- 使用人口概念背景 (PCC) 框架进行范围审查.
- 搜索的主要数据库 (PubMed,谷歌学者,临床试验.gov) 从2015年10月至2024年9月.
- 包括245个记录,按LSD群体,DHT类,结果和护理旅程阶段划分证据.
主要成果:
- 证据主要来自小型观察性研究;没有确定RCT或LSD特定的系统审查.
- 人工智能和CC应用主要支持诊断,监测和患者参与.
- 在治疗强化,康复和终身护理方面存在差距,患者/社会结果有限.
结论:
- 存在相当大的证据基础,显示出对LSD护理的AI和CC越来越感兴趣.
- 方法上的局限性阻碍了有效性推断;注意到异质性.
- 优先事项包括数据基础设施,多中心评估,透明报告和以实施为重点的成果.
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