Abstract：
Several studies have shown the efficacy of new disease-modifying therapies in slowing down type II SMA progression using the Hammersmith Functional Motor Scale Expanded (HFMSE). This research aims to enhance understanding of activity changes across age groups post-nusinersen treatment using shift analysis, compared with untreated individuals. Retrospective data from the, international SMA consortium (iSMAc) dataset were analyzed, assessing individual item changes over 12 months. Shift analysis was used to determine the gain or loss of abilities, defining \"gain\" as a positive change between scores from 0 to either 1 or 2 and \"loss\" as a negative change from either 2 or 1 to 0. The cohort included 130 SMA II patients who underwent 12-month assessments from their first nusinersen dose, with age range between 0.6 and 49.6 years. One-third of the entire cohort experienced at least a loss in one activity, while 60% experienced a gain, particularly notable in children aged 2.5 to 5 years and 5 to 13 years. Overall, the study demonstrates a positive impact of nusinersen treatment on SMA II patients, showing a trend of increased activity gains and decreased probability of ability loss across different age groups.
摘要：
一些研究表明，使用Hammersmith功能运动量表扩展（HFMSE），新的疾病修饰疗法可以减缓II型SMA进展。这项研究旨在通过移位分析，提高对nusinersen治疗后各年龄组活动变化的理解。与未经治疗的个体相比。回顾性数据来自，对国际SMA联盟(ISMAc)数据集进行了分析，评估12个月内的个别项目变化。移位分析用于确定能力的得失，将“增益”定义为从0到1或2的分数之间的正变化，将“损失”定义为从2或1到0的负变化。该队列包括130名SMAII患者，他们从第一次nusinersen剂量开始接受了12个月的评估，年龄在0.6到49.6岁之间。整个队列的三分之一至少经历了一次活动的损失，而60%的人经历了收益，在2.5至5岁和5至13岁的儿童中尤为明显。总的来说,这项研究证明了nusinersen治疗对SMAII患者的积极影响，显示出不同年龄段活动增益增加和能力丧失概率降低的趋势。
