Department of Spinal Surgery, Salford Royal Hospital, Stott lane, Salford, United Kingdom.
Department of Spinal Surgery, Royal Manchester Children's Hospital, Oxford Road, Manchester, United Kingdom.
Orphanet J Rare Dis. 2020 Jun 5;15(1):140. doi: 10.1186/s13023-020-01427-3.
Thoracolumbar kyphosis is a common indication for spinal surgery in children with Mucopolysaccharidosis. Functional outcome of spinal surgical intervention has never been published in patients with this rare disease. We present a cohort of patients with Mucopolysaccharidosis 1(Hurler syndrome) who underwent thoraco-lumbar spinal deformity correction and functional outcome assessed by pre-operative and post-operative gait analysis. This study represents the first attempt at presenting a functional assessment of surgical outcome in any Mucopolysaccharidosis subtype.
A retrospective analysis of prospectively collected data was carried out from 11 children diagnosed with this subtype of Mucopolysaccharidosis. All patients underwent thoracolumbar kyphosis correction between the years 2013 to 2016. Gait assessment was performed using GAITRite™ electronic walkway pre-operatively and post-operatively within 9 to 24 months from the index surgery. Walking distance, cadence and gait velocity were the three spatio-temporal parameters analysed. Wilcoxon signed rank test was used to analyse the data and P-Value ≤0.05 was deemed significant.
There was a statistically significant improvement in walking distance in 9 out of 11 patient post-operatively with a mean increase of 232.06 cms (P = 0.05). There was marginal improvement in cadence by 6.33 steps/min post-operatively (P-value 0.79). Gait velocity also showed a marginal increase by 8.73 cms/sec post-operatively (P-value 0.32).
The results of our study suggest that correction of thoracolumbar kyphosis in children with Mucopolysaccharidosis 1 resulted in a significant improvement of walking distance with a trend towards improved gait in the other parameters. Post-operative change in cadence was not statistically significant suggesting that physiological maturation of gait had minimal effect in the specified post-operative assessment timeframe. This study emphasizes that outcomes of spinal surgery in children with Mucopolysaccharidosis 1 should be determined by functional measures aiming to maintain or improve quality of life.
胸腰椎后凸是儿童黏多糖贮积症患者行脊柱手术的常见指征。脊柱手术干预的功能结果从未在患有这种罕见疾病的患者中公布过。我们报告了一组患有黏多糖贮积症 1 型（Hurler 综合征）的患者，他们接受了胸腰椎脊柱畸形矫正，并通过术前和术后步态分析评估了功能结果。这项研究首次尝试在任何黏多糖贮积症亚型中展示手术结果的功能评估。
对 2013 年至 2016 年间诊断为该型黏多糖贮积症的 11 例儿童的前瞻性数据进行回顾性分析。所有患者均接受胸腰椎后凸矫正。术前和术后 9 至 24 个月内，使用 GAITRite™电子步态分析系统进行步态评估。分析了三个时空参数：步行距离、步频和步态速度。采用 Wilcoxon 符号秩检验分析数据，P 值≤0.05 为差异有统计学意义。
11 例患者中有 9 例术后步行距离有统计学显著改善，平均增加 232.06cm（P=0.05）。术后步频略有增加，平均增加 6.33 步/分钟（P 值 0.79）。术后步态速度也略有增加，平均增加 8.73cm/秒（P 值 0.32）。
我们的研究结果表明，在黏多糖贮积症 1 型儿童中矫正胸腰椎后凸可显著改善步行距离，其他参数也有改善的趋势。术后步频的变化无统计学意义，提示生理成熟对特定术后评估时间内的步态影响最小。这项研究强调，黏多糖贮积症 1 型儿童的脊柱手术结果应通过旨在维持或提高生活质量的功能测量来确定。
