Department of Respiratory Medicine Departments, Sydney Children's Hospital, Randwick, Australia; Department of Sleep Medicine, Sydney Children's Hospital, Randwick, Australia; Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Sydney, Randwick, Australia.
Department of Respiratory Medicine Departments, Sydney Children's Hospital, Randwick, Australia; Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Sydney, Randwick, Australia.
Neuromuscul Disord. 2023 Jun;33(6):531-538. doi: 10.1016/j.nmd.2023.04.007. Epub 2023 Apr 25.
It is unclear how improvements in peripheral motor function in children with spinal muscular atrophy (SMA), treated with nusinersen, translate into clinically significant respiratory/sleep outcomes. A retrospective chart review of SMA children at the Sydney Children's Hospital Network was undertaken looking at 2 years before and after receiving their first dose of nusinersen. Polysomnography (PSG), spirometry and clinical data were collected and analysed using paired and unpaired t-tests for PSG parameters and generalised estimating equations for longitudinal lung function data. Forty-eight children (10 Type 1, 23 Type 2, 15 Type 3) at mean age 6.98 yrs (SD 5.25) for nusinersen initiation were included. There was a statistically significant improvement in oxygen nadir during sleep in individuals post nusinersen (mean of 87.9% to 92.3% (95%CI 1.24 - 7.63, p = 0.01)). Based on clinical and PSG findings, 6/21 patients (5 Type 2, 1 Type 3) ceased nocturnal NIV post nusinersen. Non-significant improvements were demonstrated in mean slope for FVC% predicted, FVC Z-score and mean FVC% predicted. Within 2 years of commencing nusinersen, stabilisation of respiratory outcomes occurred. Whilst some of the SMA type 2/3 cohort ceased NIV, there were no statistically significant improvements lung function and most PSG parameters.
尚不清楚接受 nusinersen 治疗的脊髓性肌萎缩症（SMA）儿童外周运动功能的改善如何转化为具有临床意义的呼吸/睡眠结果。对悉尼儿童医院网络的 SMA 儿童进行了回顾性图表审查，研究了接受 nusinersen 治疗前 2 年和后 2 年的情况。收集了睡眠多导图（PSG）、肺量测定和临床数据，并使用 PSG 参数的配对和非配对 t 检验以及纵向肺功能数据的广义估计方程进行了分析。48 名儿童（10 型 1、23 型 2、15 型 3）平均年龄为 6.98 岁（SD 5.25）开始接受 nusinersen 治疗。接受 nusinersen 治疗后，个体睡眠期间氧饱和度最低点有统计学显著改善（平均值从 87.9%到 92.3%（95%CI 1.24-7.63，p=0.01））。根据临床和 PSG 发现，6/21 名患者（5 型 2、1 型 3）在接受 nusinersen 治疗后停止了夜间 NIV。FVC%预计、FVC Z 评分和平均 FVC%预计的平均斜率均显示出非显著改善。在开始接受 nusinersen 治疗的 2 年内，呼吸结局稳定。虽然一些 SMA 型 2/3 队列停止了 NIV，但肺功能和大多数 PSG 参数均无统计学显著改善。
