ArticleEuropean journal of neurology2022
Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy.
Article in European journal of neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- Systematic Review and Meta-analysis of Long-Term Nusinersen Effectiveness in Adolescents and Adults with Spinal Muscular Atrophy.Advances in therapy · 2025Pooled it
- Longitudinal spinal cord MRI in adult 5q-SMA: biomarker and pathophysiological insights.Journal of neurology · 2026Article
- Motor function score changes in severe 5q spinal muscular atrophy during risdiplam treatment: an observational longitudinal nationwide cohort study.EClinicalMedicine · 2026Article
- Oral function tests in spinal muscular atrophy: closing the diagnostic gap in severely affected adult patients : A prospective observational study.Journal of orofacial orthopedics = Fortschritte der Kieferorthopadie : Organ/official journal Deutsche Gesellschaft fur Kieferorthopadie · 2026Observational
- Long-term persistence, safety and effectiveness of nusinersen in spinal muscular atrophy: a population-based study.Journal of neurology · 2026Observational
- Defining When Nusinersen Starts to Work: Time to Clinical Benefit in Patients with SMA Types 1-3 from a Real-World Cohort in China.Diagnostics (Basel, Switzerland) · 2026Article
- Utility of Far-Field Potentials as a Biomarker of Neurodegeneration in Spinal Muscular Atrophy.Muscle & nerve · 2026Article
- Quantitative Whole-Body Muscle MRI in Adults With Spinal Muscular Atrophy-A Sensitive Tool for Long-Time Evaluation of Disease Progression.European journal of neurology · 2026Article
- Abnormal auditory neural activity in individuals with spinal muscular atrophy.Brain communications · 2026Article
- Efficacy and safety of risdiplam in adults with 5q-associated spinal muscular atrophy: a nationwide observational cohort study in Austria.EClinicalMedicine · 2025Article
- Respiratory function in 192 adult patients with spinal muscular atrophy (SMA) treated with nusinersen - a multicenter observational study.Orphanet journal of rare diseases · 2025Observational
- Neuronal Pentraxin 2 as a Potential Biomarker for Nusinersen Therapy Response in Adults with Spinal Muscular Atrophy: A Pilot Study.Biomedicines · 2025Article
- Italian validation of the SMA independence scale-upper limb module.European journal of pediatrics · 2025Article
- Preliminary psychometric validation of patient-reported outcomes relevant to individuals with spinal muscular atrophy and their caregivers.Orphanet journal of rare diseases · 2025Article
- Enhancing the effects of nusinersen with cybernic treatment using Hybrid Assistive Limb (HAL) in spinal muscular atrophy: a real-world case series and exploratory cohort analysis.Orphanet journal of rare diseases · 2025Observational
- Long-Term Dynamics of CSF and Serum Neurofilament Light Chain in Adult Patients With 5q Spinal Muscular Atrophy Treated With Nusinersen.Neurology · 2025Article
- Spinal cord gray matter atrophy is associated with disability in spinal muscular atrophy.Journal of neurology · 2025Article
- Effectiveness of Nusinersen in Adolescents and Adults with Spinal Muscular Atrophy: Systematic Review and Meta-analysis.Neurology and therapy · 2024Article
- Nusinersen Improves Motor Function in Type 2 and 3 Spinal Muscular Atrophy Patients across Time.Biomedicines · 2024Article
- Identification of the most relevant aspects of spinal muscular atrophy (SMA) with impact on the quality of life of SMA patients and their caregivers: the PROfuture project, a qualitative study.Journal of patient-reported outcomes · 2024Article
Corrections and comments
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Authors and funding
16 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background and purposeMos scales currently used to evaluate spinal muscular atrophy (SMA) patients have only been validated in children. The aim of this study was to assess the construct validity and responsiveness of several outcome measures in adult SMA patients.
methodsPatients older than 15 years and followed up in five referral centres for at least 6 months, between October 2015 and August 2020, with a motor function scale score (Hammersmith Functional Motor Scale Expanded [HFMSE], Revised Upper Limb module [RULM]) were included. Bedside functional scales (Egen Klassification [EK2], Revised Amyotrophic Lateral Sclerosis Functional Rating Scale [ALSFRS-R]) were also collected when available. Spearman's rho correlations (rs) and Bangdiwala's concordance test (B) were used to evaluate the scales' construct validity. Monthly slopes of change were used to calculate their responsiveness of the scales.
resultsThe study included 79 SMA patients, followed up for a mean of 16 months. All scales showed strong correlations with each other (rs > 0.70). A floor effect in motor function scales was found in the weakest patients (HFMSE < 5 and RULM < 10), and a ceiling effect was found in stronger patients (HFMSE > 60 and RULM > 35). The ALSFRS-R (B = 0.72) showed a strong ability to discriminate between walkers, sitters and non-sitters, and the HFMSE (B = 0.86) between walkers and sitters. The responsiveness was low overall, although in treated patients a moderate responsiveness was found for the ALSFRS-R and HFMSE in walkers (0.69 and 0.61, respectively) and for EK2 in sitters (0.65) and non-sitters (0.60).
conclusionsThis study shows the validity and limitations of the scales most frequently used to assess adult SMA patients. Overall, bedside functional scales showed some advantages over motor scales, although all showed limited responsiveness.
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