The aim of this retrospective study was to establish the range of functional changes at 12 and 24-month in 267 type 2 Spinal Muscular Atrophy (SMA) patients with multiple assessments. We included 652 Hammersmith Functional Motor Scale Expanded (HFMSE) assessments at 12 month- and 305 at 24 month- intervals. The cohort was subdivided by functional level, Survival of Motor Neuron copy number and age. Stable scores (± 2 points) were found in 68% at 12 months and in 55% at 24 months. A decrease ≥2 points was found in 21% at 12 months and in 35% at 24 months. An increase ≥2 points was found in 11% at 12 months and 9.5% at 24 months. The risk of losing ≥2 points increased with age and HFMSE score at baseline both at 12 and 24-month. For each additional HFMSE point at baseline, the relative risk of a >2 point decline at 12 months increases by 5% before age 5 years (p = 0.023), by 8% between 5 and 13 (p<0.001) and by 26% after 13 years (p = 0.003). The combination of age and HFMSE scores at baseline increased the ability to predict progression in type 2 SMA.

中文翻译：

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年龄和基线值预测 2 型 SMA 的 12 和 24 个月功能变化

这项回顾性研究的目的是通过多重评估确定 267 名 2 型脊髓性肌萎缩 (SMA) 患者在 12 个月和 24 个月时的功能变化范围。我们纳入了 12 个月的 652 次 Hammersmith 功能性运动量表扩展 (HFMSE) 评估和 24 个月的 305 次评估。该队列按功能水平、运动神经元存活拷贝数和年龄细分。12 个月时 68% 和 24 个月时 55% 的患者得分稳定（± 2 分）。12 个月时 21% 和 24 个月时 35% 的患者下降≥2 分。12 个月时 11% 和 24 个月时 9.5% 发现增加≥2 分。在 12 个月和 24 个月时，失去≥2 分的风险随着年龄和基线 HFMSE 评分的增加而增加。对于基线处的每个额外 HFMSE 点，a > 5 岁之前 12 个月时的 2 点下降幅度增加了 5% (p = 0.023)，5 岁到 13 岁之间增加了 8% (p<0.001)，13 岁之后增加了 26% (p = 0.003)。基线时年龄和 HFMSE 评分的组合增加了预测 2 型 SMA 进展的能力。