Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3.

IF 3.2 4区医学 Q2 CLINICAL NEUROLOGY

Journal of neuromuscular diseases Pub Date : 2024-01-01 DOI:10.3233/JND-230211

Amy Wolfe, Georgia Stimpson, Danielle Ramsey, Giorgia Coratti, Sally Dunaway Young, Anna Mayhew, Marika Pane, Annemarie Rohwer, Robert Muni Lofra, Tina Duong, Emer O'Reilly, Evelin Milev, Matthew Civitello, Valeria A Sansone, Adele D'Amico, Enrico Bertini, Sonia Messina, Claudio Bruno, Emilio Albamonte, Elena Mazzone, Marion Main, Jacqueline Montes, Allan M Glanzman, Zarazuela Zolkipli-Cunningham, Amy Pasternak, Chiara Marini-Bettolo, John W Day, Basil T Darras, Darryl C De Vivo, Giovanni Baranello, Mariacristina Scoto, Richard S Finkel, Eugenio Mercuri, Francesco Muntoni

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Abstract

Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder characterised by progressive motor function decline. Motor function is assessed using several functional outcome measures including the Revised Hammersmith Scale (RHS).

Objective: In this study, we present longitudinal trajectories for the RHS in an international cohort of 149 untreated paediatric SMA 2 and 3 patients (across 531 assessments collected between March 2015 and July 2019).

Methods: We contextualise these trajectories using both the Hammersmith Functional Motor Scale Expanded (HFMSE) and Revised Upper Limb Module (RULM). At baseline, this cohort included 50% females and 15% of patients had undergone spinal fusion surgery. Patient trajectories were modelled using a natural cubic spline with age, sex, and random effects for each patient.

Results: RHS and HFMSE scores show similar trends over time in this cohort not receiving disease modifying therapies. The results confirm the strong correlation between the RHS and RULM previously observed in SMA types 2 and 3a. Scoliosis surgery is associated with a reduction of 3 points in the RHS, 4.5 points in the HFMSE for the SMA 2 population, and a reduction of 11.8 points in the RHS, and 13.4 points in the HFMSE for the SMA 3a populations. When comparing the RHS and RULM, there is a lower correlation in the type 3a's than the type 2 patients. In the SMA 2 population, there is no significant difference between the sexes in either the RHS or HFMSE trajectories. There is no significant difference in the RULM trajectory in the SMA 2 or 3a participants by sex.

Conclusions: This study demonstrates that the RHS could be used in conjunction with other functional measures such as the RULM to holistically detect SMA disease progression. This will assist with fully understanding changes that occur with treatments, further defining trajectories and therapy outcomes.

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未经治疗的脊髓性肌肉萎缩症 2 型和 3 型患者队列中修订版哈默史密斯量表的疾病轨迹。

背景：脊髓性肌萎缩症（SMA脊髓性肌萎缩症（SMA）是一种神经肌肉疾病，其特征是运动功能进行性下降。运动功能可通过包括修订版哈默史密斯量表（RHS）在内的多种功能结果测量来评估：在本研究中，我们展示了一个国际队列中 149 名未经治疗的 SMA 2 和 3 期儿科患者的 RHS 纵向轨迹（在 2015 年 3 月至 2019 年 7 月期间收集了 531 次评估）：我们使用哈默史密斯功能性运动量表扩展版（HFMSE）和修订版上肢模块（RULM）对这些轨迹进行了背景分析。基线时，该队列中有 50% 的女性患者，15% 的患者接受过脊柱融合手术。采用自然三次样条线对患者轨迹进行建模，并对每位患者的年龄、性别和随机效应进行分析：结果：在这批未接受疾病调整疗法的患者中，RHS 和 HFMSE 评分随时间的变化呈现出相似的趋势。结果证实了之前在SMA 2型和3a型中观察到的RHS和RULM之间的强相关性。脊柱侧弯手术可使 SMA 2 型患者的 RHS 降低 3 分，HFMSE 降低 4.5 分；SMA 3a 型患者的 RHS 降低 11.8 分，HFMSE 降低 13.4 分。在比较 RHS 和 RULM 时，3a 型患者的相关性低于 2 型患者。在 SMA 2 型人群中，RHS 或 HFMSE 轨迹的性别差异不明显。在 2 型或 3a 型 SMA 患者中，RULM 轨迹在性别上没有明显差异：本研究表明，RHS 可与 RULM 等其他功能测量指标结合使用，以全面检测 SMA 疾病的进展情况。这将有助于全面了解治疗过程中发生的变化，进一步确定治疗轨迹和治疗效果。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of neuromuscular diseases Medicine-Neurology (clinical)

CiteScore

5.10

自引率

6.10%

发文量

102

期刊介绍： The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis). The journal publishes research reports, reviews, short communications, letters-to-the-editor, and will consider research that has negative findings. The journal is dedicated to providing an open forum for original research in basic science, translational and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases.