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Lookup NU author(s): Dr Anna Mayhew, Robert Muni Lofra, Dr Chiara Marini Bettolo
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC 4.0).
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.
Author(s): Wolfe A, Stimpson G, Ramsey D, Coratti G, Dunaway Young S, Mayhew A, Pane M, Rohwer A, Muni Lofra R, Duong T, O'Reilly E, Milev E, Civitello M, Sansone VA, D'Amico A, Bertini E, Messina S, Bruno C, Albamonte E, Mazzone E, Main M, Montes J, Glanzman AM, Zolkipli-Cunningham Z, Pasternak A, Marini-Bettolo C, Day JW, Darras BT, De Vivo DC, Baranello G, Scoto M, Finkel RS, Mercuri E, Muntoni F
Publication type: Article
Publication status: Published
Journal: Journal of Neuromuscular Diseases
Year: 2024
Volume: 11
Issue: 3
Pages: 665-677
Online publication date: 30/04/2024
Acceptance date: 30/01/2024
Date deposited: 15/05/2024
ISSN (print): 2214-3599
ISSN (electronic): 2214-3602
Publisher: IOS Press
URL: https://doi.org/10.3233/JND-230211
DOI: 10.3233/JND-230211
PubMed id: 38427497
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