Musculoskeletal Function in Patients With Mucopolysaccharidosis Using the Pediatric Outcomes Data Collection Instrument
Musculoskeletal Function in Patients With Mucopolysaccharidosis Using the Pediatric Outcomes Data Collection Instrument
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DOI：
10.1097/bpo.0000000000000168
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发表时间：
2014-09-01
影响因子：
1.7
通讯作者：
White, Klane K.
中科院分区：
文献类型：
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作者：
O'Brien, Adam;Bompadre, Viviana;White, Klane K.
背景：肌肉骨骼功能通常是粘多糖沉积症（MPS）患者生活质量的限制因素。儿科结局数据收集工具（PODCI）是一种经验证的工具，可用于2至18岁慢性肌肉骨骼疾病儿童，任何研究者均可免费获得。本研究的目标是建立规范性数据为MPS.Methods患者：我们的25例MPS，16 PODCI的进行初步评估。其中包括4例MPS IH患者（Hurler）、7例MPS II患者（Hunter）、4例MPS IV患者（Morquio）和1例MPS VI患者（Maroteaux-Lamy）。使用Kruskal-Wallis检验估计MPS IH（Hurler），II（Hunter）和IV儿童PODCI评分的差异。结果：除MPS IV的上肢和身体功能外，我们MPS患者的所有领域均低于正常发育儿童的平均水平。两组患者上肢功能和躯体功能评分差异有统计学意义[H（2）= 8.16，P = 0.02]。单例MPS VI患者的总体评分最高。MPS IV患者得分优于MPS IH患者，MPS II患者得分最低。结论：本研究表明，MPS患者的肌肉骨骼功能有限，不同的MPS诊断之间的差异。临床相关性：这些数据建立了对MPS患者肌肉骨骼功能的基本了解，并应为未来将肌肉骨骼功能作为客观结局进行测量的研究提供比较数据。它也可以作为一个更好的干预措施的客观措施，因为以前的模型只作为肌肉骨骼功能的代理。
Background: Musculoskeletal function is often the limiting factor in quality of life in patients with mucopolysaccharidosis (MPS). The Pediatric Outcomes Data Collection Instrument (PODCI) is a validated tool to be used in children aged 2 to 18 years with chronic musculoskeletal disorders and is freely available to any investigator. The goal of this study is to establish normative data for patients with MPS.Methods: Of our 25 patients with MPS, 16 had PODCI's performed at initial evaluation. This included 4 patients with MPS IH (Hurler), 7 patients with MPS II (Hunter), 4 patients with MPS IV (Morquio), and 1 patient with MPS VI (Maroteaux-Lamy). Differences in PODCI scores among children with MPS IH (Hurler), II (Hunter), and IV were estimated using a Kruskal-Wallis test.Results: With the exception of upper extremity and physical functioning function in MPS IV, all domains for our MPS patients measured below average for typically developing children. We found a statistically significant difference among the groups in the upper extremity and physical function scale [H (2) = 8.16, P = 0.02]. The single MPS VI patient had the highest scores overall. MPS IV patients scored better than the MPS IH patients, and the MPS II patients scored lowest.Conclusions: This study demonstrates the limited musculoskeletal function in patients with MPS and the differences among different MPS diagnoses. Clinical Relevance: The data establishes a basic understanding of musculoskeletal function in patients with MPS and should provide comparative data for future studies in which musculoskeletal function is measured as an objective outcome. It can also serve as a better objective measure for interventions, as previous models have only served as proxies to musculoskeletal function.