Wilhelmina Children's Hospital, University Medical Center Utrecht, Child Development and Exercise Center, Lundlaan 6, Internal mailbox no. KB 02.056.0, Utrecht, 3508, AB, The Netherlands.
Research Group Lifestyle and Health, HU University of Applied Health Sciences Utrecht, Utrecht, The Netherlands.
Orphanet J Rare Dis. 2020 Mar 23;15(1):75. doi: 10.1186/s13023-020-1348-2.
To determine construct validity and test-retest reliability of Endurance Shuttle Tests as outcome measures for fatigability of remaining motor functions in children and adults with Spinal Muscular Atrophy (SMA) across the severity spectrum.
We assessed the Endurance Shuttle - Nine Hole Peg Test (ESNHPT), - Box and Block Test (ESBBT) and - Walk Test (ESWT) in 61 patients with SMA types 2-4, 25 healthy controls (HC) and 15 disease controls (DC). Convergent validity, discriminative validity and test-retest reliability were investigated. Additionally, we compiled the Endurance Shuttle Combined Score (ESTCS) by selecting the most relevant endurance test of each individual. 54, 70 and 73% of patients with SMA demonstrated increased fatigability on the ESNHPT, ESBBT and the ESWT. Endurance response in SMA was characterized by a decrease in muscle strength, an increase in muscle fatigue and an increase in motor adaptions, thereby confirming convergent validity. Patients with SMA showed increased drop-out rates and a shorter endurance time compared to HC and DC demonstrating good discriminative validity. Test-retest reliability was moderate to excellent (ICC's ranging from .78 to .91) with a trend towards better performance on retest. The ESTCS increased sample size and drop-out rate up to 100 and 85%.
Fatigability is an important additional dimension of physical impairments across the severity spectrum in children and adults with SMA. The EST's are reliable and valid to document fatigability of walking, proximal- and distal arm function in SMA and thus are promising outcome measures for use in clinical trials.
为了确定耐力穿梭测试在脊髓性肌萎缩症（SMA）患者中的构建效度和重测信度，作为评估不同严重程度患儿和成年患者剩余运动功能疲劳的结果测量指标。
我们评估了耐力穿梭-九孔钉测试（ESNHPT）、-方块和积木测试（ESBBT）和-行走测试（ESWT）在 61 例 SMA 2-4 型患者、25 名健康对照（HC）和 15 名疾病对照（DC）中的应用。研究了其会聚效度、判别效度和重测信度。此外，我们通过选择每个个体最相关的耐力测试，编制了耐力穿梭综合评分（ESTCS）。54%、70%和 73%的 SMA 患者在 ESNHPT、ESBBT 和 ESWT 上表现出疲劳增加。SMA 的耐力反应特征为肌肉力量下降、肌肉疲劳增加和运动适应增加，从而确认了会聚效度。与 HC 和 DC 相比，SMA 患者的退出率增加，耐力时间更短，具有良好的判别效度。重测信度为中等至极好（ICC 范围为.78 至.91），表现出重测时的性能有改善的趋势。ESTCS 提高了样本量和退出率，达到 100%和 85%。
疲劳是儿童和成年 SMA 患者严重程度范围内身体损伤的一个重要附加维度。EST 可靠且有效，可用于记录 SMA 患者行走、近端和远端手臂功能的疲劳，因此是临床试验中很有前途的结果测量指标。
