22.Q.11.2 删除综合征的儿童:睡眠障碍呼吸和管理
Domenico Paolo La Regina1,2, Sonia Khirani2,3,4, Lucie Griffon2,4
1Department of Maternal Child and Urological Sciences, Paediatrics Specialization, Sapienza University of Rome, Rome, Italy.
American journal of medical genetics. Part A
|April 9, 2025
概括
阻塞性睡眠呼吸暂停 (OSA) 在22q11.2删除综合征 (22q11DS) 的儿童中很常见,通常是轻微的. 早期干预和手术可以改善这些患者的OSA.
科学领域:
- 儿科 儿科 儿科
- 遗传学 是一个遗传学.
- 肺部病理学 肺部病理学
背景情况:
- 22q11.2删除综合征 (22q11DS) 与导致阻塞性睡眠呼吸暂停 (OSA) 的头骨面部异常有关.
- 了解这群人群中的OSA患病率和管理对于临床护理至关重要.
研究的目的:
- 确定22q11.2删除综合征 (22q11DS) 的儿童队列中阻断性睡眠呼吸暂停 (OSA) 的患病率和管理方法.
主要方法:
- 对52名22q11DS.DS.儿童的临床数据和呼吸道多重检查 (PG) 的回顾性分析.
- 评估相关疾病,之前的手术和OSA管理策略.
主要成果:
- 46%的患者患有OSA,主要是轻度 (29%).
- 年龄较小,免疫缺陷和肺部疾病与OSA有关.
- 在4名患者中,上呼吸道手术改善了OSA; 2人需要持续的正气道压力 (CPAP).
结论:
- 在22q11DS的儿童中,OSA的患病率很高,大多数病例是轻度的.
- 患有22q11DS,免疫缺陷和肺部疾病的1岁以下婴儿需要仔细监测OSA.
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