Background

Approved treatments in spinal muscular atrophy (SMA) have resulted in unprecedented gains for many individuals. Use of available outcomes, typically developed for a specific type of SMA, do not cover the range of progression, often resulting in a battery of functional testing being completed at visits. Our objective was to validate the Neuromuscular Gross Motor Outcome (GRO) as a tool to quantify function in SMA across the span of abilities.

Methods

Patients with genetically confirmed SMA completed functional testing at each visit including the Neuromuscular GRO and other appropriate gross motor outcomes.

Results

We enrolled 91 patients with SMA types 1 to 3 between 8 days and 32.1 years. The GRO utilizes a 0- to 2-point scale with scores in our cohort ranging from 1 to 95 points with no floor or ceiling effect. GRO scores were significantly different across functional categories (P < 0.001) and treatment status (P = 0.01) and correlated to other functional assessments (P ≤ 0.001). All patients were measured using the GRO, whereas traditional outcomes were only appropriate on 36% to 59% of our cohort.

Conclusion

The Neuromuscular GRO quantifies function across the span of age and abilities included in our cohort, allowing for continuous longitudinal monitoring on one scale to reduce the burden of testing in our heterogeneous clinic population.

中文翻译：

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神经肌肉粗大运动结果的有效性和可靠性

背景

经批准的脊髓性肌萎缩症 (SMA) 治疗为许多人带来了前所未有的收益。通常为特定类型的 SMA 开发的可用结果的使用不涵盖进展范围，通常导致在访问时完成一系列功能测试。我们的目标是验证神经肌肉粗大运动结果 (GRO) 作为量化跨能力跨度 SMA 功能的工具。

方法

经基因证实的 SMA 患者在每次就诊时都完成了功能测试，包括神经肌肉 GRO 和其他适当的粗大运动结果。

结果

我们在 8 天至 32.1 岁期间招募了 91 名 1 至 3 型 SMA 患者。GRO 使用 0 到 2 分的量表，在我们的队列中得分从 1 到 95 分不等，没有地板或天花板效应。GRO 评分在功能类别 ( P  < 0.001) 和治疗状态 ( P  = 0.01) 之间存在显着差异，并与其他功能评估 ( P  ≤ 0.001) 相关。所有患者均使用 GRO 进行测量，而传统结果仅适用于我们队列的 36% 至 59%。

结论

神经肌肉 GRO 量化了我们队列中跨年龄和能力的功能，允许在一个尺度上进行连续纵向监测，以减轻我们异质临床人群的测试负担。