通过新生儿查发现的脊柱肌肉缩的婴儿的睡眠呼吸障碍
Jackie Chiang1, Lena Xiao1, Elisa Nigro2
1Division of Respiratory Medicine, The Hospital for Sick Children, 555 University Ave, Toronto, Ontario, M5G 1X8, Canada; Department of Pediatrics, The Hospital for Sick Children, 555 University Ave, Toronto, Ontario, M5G 1X8, Canada; University of Toronto, 27 King's College Circle, Toronto, Ontario, M5S 1A1, Canada.
Sleep medicine
|October 1, 2023
概括
脊椎肌肉缩 (SMA) 的基因治疗改善了婴儿的睡眠呼吸障碍. 虽然所有婴儿最初都表现出呼吸异常,但随着时间的推移,症状有所改善,有些人需要呼吸支持.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 脊椎肌肉缩 (SMA) 是一种遗传性神经肌肉疾病,导致虚弱和呼吸系统问题.
- 基因替代疗法,如onasemnogene abeparvovec,已经改变了SMA治疗.
- 这种治疗对睡眠呼吸障碍的长期影响仍然基本未知.
研究的目的:
- 调查SMA的婴儿睡眠呼吸障碍的长期结果,治疗与onasemnogene abeparvovec.
- 评估基因替代疗法对儿科SMA患者呼吸功能和睡眠模式的影响.
主要方法:
- 通过新生儿查诊断出SMA的婴儿的回顾性审查.
- 分析诊断时和随访期间收集的多睡眠录像数据.
- 在一个婴儿队列中评估使用onasemnogene abeparvovec治疗.
主要成果:
- 所有11名接受ONASEMNOGENE阿贝帕罗维克治疗的婴儿在基线达到睡眠呼吸障碍的标准.
- 在所有患者中,睡眠障碍呼吸参数随着时间的推移而有所改善.
- 三名婴儿需要呼吸辅助,包括补充氧气和非侵入性通风.
结论:
- 纳米诺基尼 (Onasemnogene abeparvovec) 治疗与患有SMA的婴儿睡眠呼吸障碍的改善有关.
- 虽然多睡眠图显示出异常,但临床意义各不相同,特别是在无症状病例中.
- 包括运动分数和呼吸道症状在内的整体评估对于评估治疗结果至关重要.
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