Centre for Child Health Research, University of Queensland, Brisbane, Australia.
Centre for Child Health Research, University of Queensland, Brisbane, Australia; Queensland Respiratory and Sleep Department, Queensland Children's Hospital, Brisbane, Australia.
Sleep Med. 2024 Oct;122:208-212. doi: 10.1016/j.sleep.2024.08.022. Epub 2024 Aug 22.
Despite disease modifying treatments (DMT), assisted ventilation is commonly required in children with Spinal Muscular Atrophy (SMA). Guidelines suggest screening with oximetry and transcutaneous carbon dioxide (TcCO) for sleep disordered breathing (SDB).
To determine the utility of pulse oximetry and TcCO as a screen for SDB and the need for Non-Invasive Ventilation (NIV) in children with SMA type 1-3.
A prospective cohort study was conducted in Queensland, Australia. Full diagnostic PSG was completed in DMT naïve children with SMA. Pulse oximetry and TcCO were extracted from PSG. Apnoea-hypopnoea indices (AHI) criteria were applied to PSG results to define the need for NIV. Abnormal was defined as: ≤3 months of age [mo] AHI≥10 events/hour; >3mo AHI ≥5 events/hour. Receiver operating characteristic curves were calculated for abnormal PSG and pulse oximetry/TcCO variables, and diagnostic statistics were calculated.
Forty-seven untreated children with SMA were recruited (type 1 n = 13; 2 n = 21; 3 n = 13) ranging from 0.2 to 18.8 years old (median 4.9 years). Oxygen desaturation index ≥4 % (ODI4) ≥20events/hour had sensitivity 82.6 % (95 % CI 61.2-95.0) and specificity of 58.3 % (95 % CI 36.6-77.9). TcCO alone and combinations of oximetry/TcCO had low diagnostic ability. The same methodology was applied to 36 children who were treated (type 1 n = 7; type 2 n = 17; type n = 12) and oximetry±TcCO2 had low diagnostic ability.
ODI4 ≥20events/hour can predict the need for NIV in untreated children with SMA. TcCO2 monitoring does not improve the PPV. If normal however, children may still require a diagnostic PSG. Neither oximetry nor TcCO monitoring were useful screening tests in the children treated with DMT.
尽管有疾病修正治疗（DMT），但脊髓性肌萎缩症（SMA）患儿通常仍需要辅助通气。指南建议使用血氧仪和经皮二氧化碳（TcCO）筛查睡眠呼吸障碍（SDB）。
确定脉搏血氧仪和 TcCO 作为 SMA 1-3 型患儿 SDB 筛查和无创通气（NIV）需求的工具的效用。
在澳大利亚昆士兰州进行了一项前瞻性队列研究。对 DMT 初治 SMA 患儿进行了全面诊断性 PSG。从 PSG 中提取脉搏血氧仪和 TcCO。将呼吸暂停-低通气指数（AHI）标准应用于 PSG 结果，以定义对 NIV 的需求。异常定义为：≤3 个月龄 [mo] AHI≥10 事件/小时；>3mo AHI ≥5 事件/小时。计算异常 PSG 和脉搏血氧仪/TcCO 变量的受试者工作特征曲线，并计算诊断统计学数据。
共招募了 47 名未经治疗的 SMA 患儿（1 型 n=13；2 型 n=21；3 型 n=13），年龄从 0.2 岁到 18.8 岁（中位数 4.9 岁）。氧减饱和度指数≥4%（ODI4）≥20 事件/小时的敏感性为 82.6%（95%CI 61.2-95.0），特异性为 58.3%（95%CI 36.6-77.9）。单独 TcCO 和脉搏血氧仪/TcCO 联合检测的诊断能力较低。同样的方法也应用于 36 名接受治疗的患儿（1 型 n=7；2 型 n=17；3 型 n=12），而脉搏血氧仪±TcCO2 的诊断能力较低。
ODI4≥20 事件/小时可预测 SMA 未治疗患儿对 NIV 的需求。TcCO2 监测不能提高阳性预测值。然而，如果正常，患儿可能仍需要进行诊断性 PSG。在接受 DMT 治疗的患儿中，脉搏血氧仪或 TcCO 监测均不是有用的筛查试验。
