ArticleBMC neurology2017
A qualitative study of perceptions of meaningful change in spinal muscular atrophy.
Article in BMC neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
62 citing papers in PubMed, 2 syntheses or guidelines pooled it, 118 citations in OpenAlex.
- Parents as informal caregivers of children and adolescents with spinal muscular atrophy: a systematic review of quantitative and qualitative data on the psychosocial situation, caregiver burden, and family needs.Orphanet journal of rare diseases · 2022Pooled it
- Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA).PharmacoEconomics · 2022Pooled it
- Intrathecal onasemnogene abeparvovec in treatment-naive patients with spinal muscular atrophy: a phase 3, randomized controlled trial.Nature medicine · 2026Trial
- Trial
- Health outcomes in spinal muscular atrophy type 1 following AVXS-101 gene replacement therapy.Pediatric pulmonology · 2019Trial
- Rehabilitation approaches used for children with spinal muscular atrophy: A scoping review based on the F-words framework.Journal of pediatric rehabilitation medicine · 2026Article
- Limitations in activities of daily living in individuals with spinal muscular atrophy: A scoping review and multidisciplinary recommendations for clinical practice.Journal of neuromuscular diseases · 2026Article
- Strengthening adaptive functioning and participation in the contemporary spinal muscular atrophy paradigm: clinical perspectives and future directions.World journal of pediatrics : WJP · 2026Review
- New SMA era: A broad-range tiered assessment of function for the evolving SMA phenotype (EVOLVE-SMA).Journal of neuromuscular diseases · 2026Article
- Adaptive functioning in school-aged children with spinal muscular atrophy in the treatment era: a non-randomised cohort study.The Lancet regional health. Western Pacific · 2026Article
- A qualitative study of the discrepancy between patient expectations and assessment practices in 5q-adult spinal muscular atrophy in France.Journal of neuromuscular diseases · 2026Article
- A Psychometric Evaluation of Maximum Phonation Time and S/Z Ratio as Pragmatic Outcome Measures of Bulbar Function in Adults With Spinal Muscular Atrophy.Muscle & nerve · 2026Observational
- Feasibility of a Home-Based Exergaming Intervention for Youth With Spinal Muscular Atrophy.Muscle & nerve · 2025Article
- Assessment of Fine Motor Abilities Among Children with Spinal Muscular Atrophy Treated with Nusinersen Using a New Touchscreen Application: A Pilot Study.Children (Basel, Switzerland) · 2025Article
- Setting multidisciplinary intervention goals for spinal muscular atrophy patients utilizing the international classification of functioning, disability, and health: a pilot study in a small sample sizes.Acta neurologica Belgica · 2025Article
- Patient and caregiver spinal muscular atrophy treatment attribute preferences in Latin America.Journal of neuromuscular diseases · 2025Article
- Preliminary psychometric validation of patient-reported outcomes relevant to individuals with spinal muscular atrophy and their caregivers.Orphanet journal of rare diseases · 2025Article
- An exploratory qualitative assessment of patient and clinician perspectives on patient-reported outcome measures and disease-modifying therapies in adults with spinal muscular atrophy.Journal of rehabilitation medicine · 2025Article
- The profound implications of mitochondrial myopathy on activities of daily living: an observational qualitative study of standardized structured and semi-structured patient interviews.Therapeutic advances in chronic disease · 2025Article
- A patient-centered qualitative evaluation of meaningful change on the NSAA and PUL in Duchenne Muscular Dystrophy.Frontiers in neurology · 2025Article
2 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThis qualitative study examined how individuals with Spinal Muscular Atrophy (SMA), their caregivers, and clinicians defined meaningful change, primarily in the Type II and non-ambulant type III patient populations, associated with treatment of this condition. In addition, we explored participants' views about two measures of motor function routinely used in clinical trials for these SMA subtypes, namely the expanded version of the Hammersmith Functional Motor Scale (HFMSE) and the Upper Limb Module (ULM).
methodsThe 123 participants (21 with SMA, 64 parents, and 11 clinicians), recruited through SMA advocacy organizations, participated in one of 16 focus groups or 37 interviews. The sessions were audio-recorded, and verbatim transcripts were analyzed using a grounded theory approach.
resultsFor the participants, meaningful change was relative to functional ability, and small changes in motor function could have an important impact on quality of life. Because patients and families feared progressive loss of functional ability, the participants saw maintenance of abilities as a meaningful outcome. They believed that measures of motor function covered important items, but worried that the HFMSE and ULM might not be sensitive enough to capture small changes. In addition, they felt that outcome measures should assess other important features of life with SMA, including the ability to perform daily activities, respiratory function, swallowing, fatigue, and endurance.
conclusionsGiven the heterogeneity of SMA, it is important to expand the assessment of treatment effects to a broader range of outcomes using measures sensitive enough to detect small changes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.