166 .小男孩杜氏肌营养不良的早期功能轨迹：一项使用NSAA进行的为期24个月的国际研究

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders Pub Date : 2025-09-01 DOI:10.1016/j.nmd.2025.105519

G. Coratti , S. Paolucci , G. Baranello , J. Expósito-Escudero , A. Wolfe , M. Brooke , M. Pane , A. Nascimento , S. Messina , F. Ricci , A. D'Amico , L. Bello , C. Bruno , V. Sansone , R. Masson , V. Nigro , F. Muntoni , E. Mercuri , International DMD network

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引用次数: 0

摘要

本研究调查了意大利（113）、英国（196）和西班牙(6)国家网络中315名4至7岁的杜氏肌营养不良症（DMD）患儿的24个月的北极星动态评估（NSAA）总分及其计时项目——10米步行/跑步（10MWR）和从地板上站起来的时间（TRF）。在基线、12、18和24个月进行评估。315名男孩共进行了523次24个月成对评估。基线年龄为4岁（n=102）、5岁（n=133）的患者在24个月时NSAA评分提高：+5.06、+2.16；基线年龄为6岁（n=138）、7岁（n=141）的患者NSAA评分下降：-2.95、-5.51。基线年龄为4岁（n=102）组24月龄时10MWR改善：-1.11s，基线年龄为5岁（n=133）组改善：-0.74s，基线年龄为6岁（n=138）组改善：+1.47s，基线年龄为7岁（n=141）组改善：+2.14s。基线年龄为4岁组（n=102） 24月龄TRF改善：-1.14s，基线年龄为5岁组(n=132) +1.28s，基线年龄为6岁组(n=135) +5.00 s，基线年龄为7岁组(n=138) +6.59s。我们使用线性混合模型确定影响NSAA评分随时间变化的因素，以时间、基线时的TRF、基线时的10MWR、基线时的年龄和基线时的NSAA作为预测因子。随机效应包括在内，以解释患者体内的重复测量。分析发现，随着时间的推移，NSAA分数显著下降。随着时间的推移，较差的基线TRF、10MWR表现和基线年龄均与较低的NSAA评分相关。这些发现强调了在患有DMD的年轻男孩中不同测量方法的早期疾病进展的可变性，并强调了基线值如何有助于识别不同的轨迹。基线值分层可能支持更个性化的监测，并为该年龄组的临床试验设计提供信息。

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166PEarly functional trajectories in young boys with Duchenne muscular dystrophy: a 24-month international study using the NSAA

This study investigated 24-month trajectories of the North Star Ambulatory Assessment (NSAA) total score and its timed items—the 10-meter walk/run (10MWR) and time to rise from floor (TRF)—in 315 ambulant boys with genetically confirmed Duchenne muscular dystrophy (DMD), aged 4 to 7 years, across Italian (n=113), UK (n=196), and Spanish (n=6) national networks. Assessments were performed at baseline, 12, 18, and 24 months. The 315 boys had a total of 523 24-month paired assessments. The NSAA score improved at 24 months in the group with an age at baseline of 4 years (n=102): +5.06 and 5 years(n=133): +2.16, while declined in the group aged at baseline of 6 years (n=138): -2.95 and 7 years (n=141): -5.51. 10MWR improved at 24 months in the group with an age at baseline of 4 years (n=102): –1.11s and 5 years(n=133): -0.74s, while it declined in the group aged at baseline of 6 years (n=138): +1.47s and 7 years (n=141): +2.14s. TRF improved at 24 months in the group with an age at baseline of 4 years (n=102): –1.14s, while it declined in the group aged at baseline of 5 years (n=132): +1.28s, of 6 years (n=135): +5.00 s and 7 years (n=138): +6.59s. We used a linear mixed model to identify factors influencing NSAA score over time, with time, TRF at baseline, 10MWR at baseline, age at baseline, and NSAA at baseline as predictors. Random effects were included to account for repeated measures within patients. The analysis found a significant decline in NSAA scores over time. Poorer baseline TRF, 10MWR performance, and older age at baseline were all associated with lower NSAA scores over time. These findings highlight the variability in early disease progression across the different measures in young boys with DMD and underscore how baseline values can help to identify distinct trajectories. Stratification by baseline values may support more individualized monitoring and inform clinical trial design in this age group.

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来源期刊

Neuromuscular Disorders 医学-临床神经学

CiteScore

4.60

自引率

3.60%

发文量

543

审稿时长

53 days

期刊介绍： This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies). The Editors welcome original articles from all areas of the field: • Clinical aspects, such as new clinical entities, case studies of interest, treatment, management and rehabilitation (including biomechanics, orthotic design and surgery). • Basic scientific studies of relevance to the clinical syndromes, including advances in the fields of molecular biology and genetics. • Studies of animal models relevant to the human diseases. The journal is aimed at a wide range of clinicians, pathologists, associated paramedical professionals and clinical and basic scientists with an interest in the study of neuromuscular disorders.