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Updated: Jan 6, 2026

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A Free-breathing fMRI Method to Study Human Olfactory Function
Published on: July 30, 2017
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在CHARGE综合征中嗅觉功能障碍:流行率,评估方法和临床相关的系统审查
G M Spencer1, K Karim1, P Coyle2
1Queen's University School of Medicine, Kingston, Ontario, Canada.
Rhinology
|November 28, 2025
概括
嗅觉功能障碍 (OD) 在CHARGE综合征 (CS) 中很常见,影响超过80%的个体,但经常被忽视. 本次审查强调了评估挑战和相关问题,倡导改进诊断标准.
科学领域:
- 遗传学和罕见疾病
- 神经学 神经学
- 耳鼻喉科 耳鼻喉科 耳鼻喉科
背景情况:
- 嗅觉功能障碍 (OD) 是CHARGE综合征 (CS) 中一个显著但未被认可的特征.
- CS通常与CHD7突变和结构性嗅觉系统异常有关.
- 本综述系统地检查了CS中OD的患病率,评估和临床关联.
研究的目的:
- 系统地审查CHARGE综合征中嗅觉功能障碍的负担.
- 评估目前对CS患者OD的评估方法.
- 为了确定与CHARGE综合征中的OD相关的临床相关性.
主要方法:
- 遵循PRISMA指南的系统审查,注册在PROSPERO.
- 在六个数据库中进行全面的文献搜索,截至2025年5月.
- 数据提取和质量评估由两个独立的审稿人,其次是叙事综合.
主要成果:
- 对16项研究的分析 (来自1643个记录) 显示,CS中OD患病率高 (>80%).
- 放射性成像是最常见的OD识别方法;心理物理和自我报告措施不太常见.
- OD与神经发育延迟,食问题和生活质量下降有关,尽管因果关系尚不清楚.
结论:
- 嗅觉功能障碍在CHARGE综合征中非常普遍且未得到充分承认.
- 放射学和电生理学方法可以作为心理物理测试的替代方案.
- 未来的研究应该专注于验证儿科嗅觉评估,并将OD纳入修订的CS诊断标准的生活质量框架.
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