Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study.
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study.
复制标题
DOI：
10.1212/wnl.0000000000011051
复制
发表时间：
2021-01-26
期刊：
影响因子：
9.9
通讯作者：
International SMA Consortium (iSMAc)
中科院分区：
文献类型：
--
作者：
Trucco F;Ridout D;Scoto M;Coratti G;Main ML;Muni Lofra R;Mayhew AG;Montes J;Pane M;Sansone V;Albamonte E;D'Amico A;Bertini E;Messina S;Bruno C;Parasuraman D;Childs AM;Gowda V;Willis T;Ong M;Marini-Bettolo C;De Vivo DC;Darras BT;Day J;Kichula EA;Mayer OH;Navas Nazario AA;Finkel RS;Mercuri E;Muntoni F;International SMA Consortium (iSMAc)
描述2型和不能行走的3型脊髓性肌萎缩症（SMA）国际儿科队列患者的呼吸轨迹及其与运动功能的相关性。这是一项在国际SMA联盟（iSMAc）自然史研究中对患者进行的8年回顾性观察性研究。我们检索了人体测量学、用力肺活量（FVC）绝对值、FVC预测百分比（FVC%P）和无创通气（NIV）要求。Hammersmith运动功能量表（HFMS）和修订的上肢功能（RULM）评分与呼吸功能相关。我们排除了干预性临床试验和nusinersen商业治疗的患者。共有437例SMA患者：348例为2型，89例为非活动型3型。首次访视时的平均年龄分别为6.9（±4.4）岁和11.1（±4）岁。在SMA 2型中，5 - 13年FVC%P下降4.2%/年，随后下降较慢（1.0%/年）。在3型中，FVC%P在8 - 13岁之间下降6.3%/年，随后下降较慢（0.9%/年）。39%的SMA类型2%和9%的3型需要NIV，中位年龄为5.0（1.8-16.6）和15.1（13.8-16.3）岁。84%的2%型SMA患者和80%的3型SMA患者患有脊柱侧凸; 54%和46%的患者需要手术，这对呼吸功能下降没有显著影响。FVC%P与两种亚型的HFMS和RULM评分呈正相关。在SMA 2型和非行走型3型中，肺功能下降不同，13岁后趋于平稳。肺和运动功能相关的两种亚型。我们的数据进一步定义了较温和的SMA表型，并为SMA新治疗的长期疗效提供了基准信息。
To describe the respiratory trajectories and their correlation with motor function in an international pediatric cohort of patients with type 2 and nonambulant type 3 spinal muscular atrophy (SMA). This was an 8-year retrospective observational study of patients in the International SMA Consortium (iSMAc) natural history study. We retrieved anthropometrics, forced vital capacity (FVC) absolute, FVC percent predicted (FVC%P), and noninvasive ventilation (NIV) requirement. Hammersmith Functional Motor Scale (HFMS) and revised Performance of Upper Limb (RULM) scores were correlated with respiratory function. We excluded patients in interventional clinical trials and on nusinersen commercial therapy. There were 437 patients with SMA: 348 with type 2 and 89 with nonambulant 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%/y from 5 to 13 years, followed by a slower decline (1.0%/y). In type 3, FVC%P declined by 6.3%/y between 8 and 13 years, followed by a slower decline (0.9%/y). Thirty-nine percent with SMA type 2% and 9% with type 3 required NIV at a median age 5.0 (1.8–16.6) and 15.1 (13.8–16.3) years. Eighty-four percent with SMA type 2% and 80% with type 3 had scoliosis; 54% and 46% required surgery, which did not significantly affect respiratory decline. FVC%P positively correlated with HFMS and RULM scores in both subtypes. In SMA type 2 and nonambulant type 3, lung function declines differently, with a common leveling after age 13 years. Lung and motor function correlated in both subtypes. Our data further define the milder SMA phenotypes and provide information to benchmark the long-term efficacy of new treatments for SMA.