Supplementary figures for: Respiratory trajectories in type 2 and 3 Spinal muscular atrophy in the iSMAC cohort study

Objective. To describe the respiratory trajectories and their correlation with motor function in an international paediatric cohort of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA).

Methods. Eight-year retrospective observational study of patients in the iSMAc natural history study. We retrieved anthropometrics, forced vital capacity (FVC) absolute, FVC% predicted (FVC%P.), Non-Invasive ventilation (NIV) requirement. Hammersmith functional motor scale (HFMS) and Revised performance of upper limb (RULM) were correlated with respiratory function. We excluded patients in interventional clinical trials and on Nusinersen commercial therapy.

Results. There were 437 patients with SMA: 348 type 2, 89 non-ambulant type 3. Mean age at first visit was 6.9(±4.4) and 11.1(±4) years. In SMA type 2 FVC%P declined by 4.2%/year from 5 to 13 years, followed by a slower decline (1.0%/year). In type 3 FVC%P declined by 6.3%/year between 8 and 13 years, followed by a slowe...

研究目的：旨在描述国际队列中2型及非行走型3型脊髓性肌萎缩症（spinal muscular atrophy, SMA）患儿的呼吸轨迹及其与运动功能的相关性。
研究方法：针对iSMAc自然病史研究开展为期8年的回顾性观察性研究，收集患者的人体测量学指标、用力肺活量（forced vital capacity, FVC）实测值、预计值百分比（FVC% predicted, FVC%P）及无创通气（non-invasive ventilation, NIV）需求情况。将哈默史密斯功能运动量表（Hammersmith functional motor scale, HFMS）与修订版上肢功能量表（Revised performance of upper limb, RULM）评分与呼吸功能指标进行相关性分析。本研究排除了参与干预性临床试验及接受诺西那生钠（Nusinersen）商业化治疗的患者。
研究结果：共纳入437例脊髓性肌萎缩症患者，其中348例为2型患者，89例为非行走型3型患者。首次就诊时的平均年龄分别为6.9(±4.4)岁与11.1(±4)岁。在2型脊髓性肌萎缩症患者中，FVC%P在5至13岁期间以每年4.2%的速率下降，随后下降速率放缓至每年1.0%。在3型患者中，FVC%P在8至13岁期间以每年6.3%的速率下降，随后下降速率放缓