The purpose of this study was to determine how effective administration of nusinersen was at improving motor function in older adolescent and adult patients with spinal muscular atrophy, using standardized motor outcome measures. Data were gathered through a retrospective chart review of older spinal muscular atrophy patients (ages 5–58) being treated at Rady Children's Hospital and the University of California, San Diego with nusinersen from April 2017-June 2019. Linear mixed effects analyses found that, for older children and adult patients with SMA 1, 2, and 3, motor scores as measured by the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders for non-sitters improved by 6 points (p = .01) and the Hammersmith Infant Neurological Examination-2 by 2.6% (p = .008) over the 22-month study period. Over the same period, sitters improved on the Revised Upper Limb Module by 4.4 points (p = .02) and on the Hammersmith Functional Motor Scale-Expanded by 3.3% (p = .00005) post treatment with nusinersen. Older spinal muscular atrophy patients (5–58 years) being treated with nusinersen at our institutions are improving. Not only have symptoms stabilized, but their motor function has shown incremental improvements. Based on the results of this study, we suggested that nusinersen is well-tolerated and efficacious when treating older children and adult patients with spinal muscular atrophy 1, 2, and 3.

本研究的目的是使用标准化的运动结果测量方法确定 nusinersen 在改善老年青少年和成年脊髓性肌萎缩患者的运动功能方面的有效性。数据是通过对 2017 年 4 月至 2019 年 6 月在 Rady 儿童医院和加州大学圣地亚哥分校接受 nusinersen 治疗的老年脊髓性肌萎缩症患者（5-58 岁）的回顾性图表审查收集的。线性混合效应分析发现，对于患有 SMA 1、2 和 3 的大龄儿童和成年患者，费城儿童医院非坐立婴儿神经肌肉疾病测试所测量的运动评分提高了 6 分 ( p  = .01) 和 Hammersmith 婴儿神经系统检查-2 由 2.6% ( p = .008) 在 22 个月的研究期间。在同一时期，保姆在 使用 nusinersen 治疗后在修订的上肢模块上提高了 4.4 分 ( p  = .02)，在 Hammersmith 功能性运动量表上提高了 3.3% ( p = .00005)。在我们的机构接受 nusinersen 治疗的老年脊髓性肌萎缩症患者（5-58 岁）正在改善。不仅症状稳定了，而且他们的运动功能也逐渐改善。根据这项研究的结果，我们认为 nusinersen 在治疗年龄较大的儿童和成人脊髓性肌萎缩症 1、2 和 3 时具有良好的耐受性和有效性。