Mao S S, Feng Y J, Xu L, Yao M, Xia Y, Jin J N, Wang L S, Chen T T, Chen X Y, Zhang Y, Zhang H, Jiang Y, Li H B, Long Q, Gao F
Department of Neurology, the Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.
Department of Developmental Behavior, the Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.
Zhonghua Er Ke Za Zhi. 2022 Jul 2;60(7):688-693. doi: 10.3760/cma.j.cn112140-20211223-01075.
To explore the clinical efficacy of disease-modifying drug nusinersen on children with spinal muscular atrophy. The baseline and longitudinal clinical data of 15 children who were treated with nusinersen in the Children's Hospital, Zhejiang University School of Medicine from October 2019 to October 2021 were retrospectively collected. The general data (gender, age, genotype, and clinical classification, etc.), motor function, nutritional status, scoliosis and respiratory function were analyzed. Wilcoxon rank-sum test was used for comparing multi-system conditions before and after treatment. The age of 15 cases (7 males, 8 females) was 6.8 (2.8, 8.3) years, with 2 cases of type 1, 6 cases of type 2, and 7 cases of type 3 respectively, and the course of disease was 55.0 (21.0, 69.0) months. After 9.0 (9.0, 24.0) months of treatment, the motor function scale evaluations of the Hammersmith neurological examination section 2 (13.0 (7.0, 23.0) 18.0 (10.0, 25.0) scores, =-2.67, =0.018) of 15 children, the Hammersmith functional motor scale expanded (38.0 (18.5, 45.5) 42.0 (23.0, 51.0) scores, =-2.38, =0.018), and the revised upper limb module (27.0 (19.5, 32.0) 33.0 (22.5, 35.5) scores, =-2.52, =0.012) of children with type 2 and 3 had significantly improved. Thirteen patients achieved clinically significant motor function improvement, and 2 of them had kept stable scale scores. Subjective reports also indicated that the muscle strength and daily exercise ability of these children improved after treatment, and no serious adverse reactions were reported. Supplemented by the multi-disciplinary team management, the levels of some indicators such as Cobbs angle of scoliosis and forced vital capacity all had significantly improved (all <0.05). Nusinersen can improve the motor function of patients with 5q spinal muscular atrophy, which is also proved safe to be used in children. The drug treatment supplemented by the multi-disciplinary team management is helpful to improve the multi-system function of the children with spinal muscular atrophy.
探讨疾病修饰药物诺西那生钠对脊髓性肌萎缩症患儿的临床疗效。回顾性收集2019年10月至2021年10月在浙江大学医学院附属儿童医院接受诺西那生钠治疗的15例患儿的基线和纵向临床资料。分析一般资料（性别、年龄、基因型、临床分型等）、运动功能、营养状况、脊柱侧弯及呼吸功能。采用Wilcoxon秩和检验比较治疗前后多系统状况。15例患儿（男7例，女8例）年龄为6.8（2.8，8.3）岁，其中1型2例，2型6例，3型7例，病程为55.0（21.0，69.0）个月。治疗9.0（9.0，24.0）个月后，15例患儿的哈默史密斯神经学检查第2部分运动功能量表评分（13.0（7.0，23.0） 18.0（10.0，25.0）分，Z=-2.67，P=0.018）、哈默史密斯功能运动量表扩展版评分（38.0（18.5，45.5） 42.0（23.0，51.0）分，Z=-2.38，P=0.018）以及2型和3型患儿的改良上肢模块评分（27.0（19.5，32.0） 33.0（22.5，35.5）分，Z=-2.52，P=0.012）均有显著改善。13例患者运动功能获得临床显著改善，其中2例量表评分保持稳定。主观报告也表明这些患儿治疗后肌肉力量和日常运动能力有所提高，且未报告严重不良反应。在多学科团队管理的辅助下，脊柱侧弯Cobbs角、用力肺活量等部分指标水平均有显著改善（均P<0.05）。诺西那生钠可改善5q型脊髓性肌萎缩症患者的运动功能，在儿童中使用也被证明是安全的。多学科团队管理辅助下的药物治疗有助于改善脊髓性肌萎缩症患儿的多系统功能。
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