Peng Yingshuang, Feng Lianying, Wu Jinfeng, Zhou Qianyun, Liu Hailang, Chen Jin, Song Xiaojie, Han Wei, Zhang Fuyi, Yuan Ping, Yao Zhengxiong, Xie Lingling, Li Mei, Jiang Li, Hong Siqi
Department of Neurology Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Chongqing, China.
Department of Neurology Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Chongqing, China.
Brain Dev. 2025 Feb;47(1):104316. doi: 10.1016/j.braindev.2024.104316. Epub 2025 Jan 8.
Disease-modifying therapies can improve motor function in patients with spinal muscular atrophy (SMA), but efficacy varies between individuals. The aim was to evaluate the efficacy and safety of nusinersen treatment in children with SMA and to investigate prognostic factors.
Motor function, compound muscle action potential (CMAP), and other indicators were prospectively collected before and 14 months after nusinersen treatment.
A total of 55 children were included in our study to assess safety. 41 patients (with at least 6 months of nusinersen treatment) were included in the final efficacy analyses, with a median age at first treatment of 4.2 years. After 14 months of treatment with nusinersen, motor function improved, with increases in CHOP INTEND (Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders), HINE-2 (Hammersmith Infant Neurological Exam-Part 2), HFMSE (Hammersmith Functional Motor Scale-Expanded) and RULM (Revised Upper Limb Module) of 5.5 (95 % CI -2.4-13.4), 0.8 (95 % CI -0.2-1.9), 5.0 (95 % CI 2.5-7.4) and 2.4 (95 % CI 0.7-4.1) points, respectively. The CMAP amplitudes of the bilateral tibial, median and ulnar nerves increased, with greatest improvements of 0.87 ± 1.41 mV, 1.08 ± 1.71 mV and 0.59 ± 1.01 mV, respectively. Spearman correlation analysis showed that age at first treatment, disease duration, joint contractures and scoliosis were associated with treatment efficacy (r = -0.4-0.7, P < 0.05). Subgroup analyses showed that the mean HFMSE and RULM scores improved in the Physical therapy group (P < 0.05).
Early treatment, mild bone and joint complications, and regular rehabilitation training were associated with better outcomes. The other motor-related functions, such as respiratory and bullar function, and prognostic factors should be studied in the future.
疾病修饰疗法可改善脊髓性肌萎缩症（SMA）患者的运动功能，但个体间疗效存在差异。本研究旨在评估诺西那生治疗儿童SMA的疗效和安全性，并探讨预后因素。
前瞻性收集诺西那生治疗前及治疗14个月后的运动功能、复合肌肉动作电位（CMAP）及其他指标。
本研究共纳入55例儿童评估安全性。41例患者（接受诺西那生治疗至少6个月）纳入最终疗效分析，首次治疗时的中位年龄为4.2岁。接受诺西那生治疗14个月后，运动功能改善，费城儿童医院婴儿神经肌肉疾病测试（CHOP INTEND）、哈默史密斯婴儿神经学检查第二部分（HINE-2）、哈默史密斯功能运动量表扩展版（HFMSE）和修订上肢模块（RULM）分别增加5.5分（95%CI -2.4-13.4）、0.8分（95%CI -0.2-1.9）、5.0分（95%CI 2.5-7.4）和2.4分（95%CI 0.7-4.1）。双侧胫神经、正中神经和尺神经的CMAP波幅增加，最大改善分别为0.87±1.41mV、1.08±1.71mV和0.59±1.01mV。Spearman相关性分析显示，首次治疗年龄、病程、关节挛缩和脊柱侧弯与治疗疗效相关（r = -0.4-0.7，P < 0.05）。亚组分析显示，物理治疗组的平均HFMSE和RULM评分有所改善（P < 0.05）。
早期治疗、轻度骨和关节并发症以及定期康复训练与更好的预后相关。未来应研究其他与运动相关的功能，如呼吸和球囊功能以及预后因素。
