患有普拉德-威利综合征的儿童心血管自主功能障碍和睡眠异常
Rachel Debs1, Gwenaëlle Diene2,3, Julie Cortadellas2
1Unité du Sommeil, Centre de Compétences Narcolepsie Et Hypersomnie Rare, Hôpital Pierre-Paul Riquet, CHU de Toulouse, Toulouse, France.
概括
患有普拉德-威利综合征 (PWS) 的儿童表现出显著的自主神经系统功能障碍,包括心率变化受损和睡眠呼吸暂停风险增加. 这些发现凸显了PWS患者潜在的心血管风险.
科学领域:
- 儿科神经学 儿科神经学
- 心血管生理学心血管生理学
- 睡眠医学 睡眠医学
背景情况:
- 普拉德-威利综合征 (PWS) 是一种罕见的遗传疾病,影响神经发育,认知,行为和荷尔蒙调节.
- 自主神经系统 (ANS) 功能障碍,包括睡眠障碍和下丘脑问题,在PWS中越来越多地被认可.
- 有限的研究已经探索了PWS儿童的全面自主功能.
研究的目的:
- 在患有普拉德-威利综合征的儿童中调查 dysautonomia.
- 将多睡眠学 (睡眠研究) 与标准自主功能测试相结合.
- 在PWS患者中评估心血管和运动功能.
主要方法:
- 在37名PWS儿童和20名对照组中,对睡眠阶段 (多睡眠学) 中心率变化 (HRV) 的回顾性分析.
- 在23名6岁以上的PWS患者中进行心血管自主测试 (尤文测试) 和电化学皮肤导电 (汗水评估).
- 在PWS儿童和对照者之间比较HRV时间和频率域参数.
主要成果:
- 在PWS儿童中观察到活跃站立 (47%) 和深呼吸 (22%) 的心率反应受损.
- 26%的PWS儿童有无症状的正静性低血压 (OH).
- 阻塞性 (46%) 和中心性 (24%) 睡眠呼吸暂停在PWS儿童中普遍存在,与对照组不同. 在N2和REM睡眠阶段,HRV参数显著降低. 一种类似于麻醉症的表型与REM睡眠中的同情指数降低有关.
结论:
- 患有普拉德-威利综合征的儿童在清醒和睡眠期间表现出阴道调节的减少.
- 交感功能障碍的证据,包括静止性低血压,表明PWS的更广泛的自主功能障碍.
- 这些自主变化可能有助于在普拉德-威利综合征中观察到的心血管风险升高.
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