PDF(Pubmed)
Abstract：
We analyzed the changes in various motor function scores over a four-year period in patients with non-ambulatory spinal muscular atrophy (SMA) during Nusinersen treatment. Patients underwent Hammersmith Infant Neurological Examination (HINE) or Hammersmith Functional Motor Scale Expanded (HFMSE) before treatment, and approximately every 4 months thereafter. Children\'s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) or Children\'s Hospital of Philadelphia - Adult Test of Neuromuscular Disorders (CHOP ATEND), Revised Upper Limb Module (RULM), and Motor Function Measure (MFM) were performed based on baseline functional status. Narrative interviews were conducted to explore post-treatment physical improvement regarding activities of daily living (ADLs) and fatigue after ADLs. Based on HFMSE results, 9 patients achieved minimum clinically important differences. Average rates of change (slopes) with corresponding 95% confidence intervals for all assessment tools were in a positive direction. CHOP-INTEND showed the most prominent improvement in children and adolescents followed by HFMSE. Improvements in CHOP-ATEND were most noticeable in adults. Improvements were accompanied by changes in ADLs as observed in the narrative interviews. It is necessary to consider various functional aspects to determine the effectiveness of Nusinersen therapy. The objective assessment of the therapeutic effect of Nusinersen in non-ambulatory SMA requires consideration of functional aspects and the related ADLs.
摘要：
我们分析了Nusinersen治疗期间非卧床性脊髓性肌萎缩症（SMA）患者在四年内各种运动功能评分的变化。患者在治疗前接受了Hammersmith婴儿神经系统检查（HINE）或Hammersmith功能运动量表扩展（HFMSE），此后大约每4个月。费城儿童医院婴儿神经肌肉疾病测试（CHOPINTEND）或费城儿童医院-成人神经肌肉疾病测试（CHOPATEND），修改上肢模块(RULM)基于基线功能状态进行运动功能测量(MFM)。进行了叙事访谈，以探讨治疗后有关日常生活活动（ADL）和ADL后疲劳的身体改善。根据HFMSE结果，9例患者达到最小的临床重要差异。所有评估工具的平均变化率（斜率）以及相应的95％置信区间均为正方向。CHOP-INTEND在儿童和青少年中表现出最显著的改善，其次是HFMSE。CHOP-ATEND的改善在成人中最为明显。正如在叙述性访谈中观察到的那样，改善伴随着ADL的变化。有必要考虑各种功能方面来确定Nusinersen疗法的有效性。客观评估Nusinersen在非卧床SMA中的治疗效果需要考虑功能方面和相关的ADL。
