ArticleOrphanet journal of rare diseases2020
Health, wellbeing and lived experiences of adults with SMA: a scoping systematic review.
Article in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 3 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
44 citing papers in PubMed, 3 syntheses or guidelines pooled it, 69 citations in OpenAlex.
- Economic evaluations of disease-modifying therapies for spinal muscular atrophy: a systematic literature review.Orphanet journal of rare diseases · 2025Pooled it
- Systematic Literature Review to Assess the Cost and Resource Use Associated with Spinal Muscular Atrophy Management.PharmacoEconomics · 2022Pooled it
- Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA).PharmacoEconomics · 2022Pooled it
- Trial
- Addressing the Global Disparities in Access to Treatment in Spinal Muscular Atrophy.Muscle & nerve · 2026Review
- Economic Burden of Spinal Muscular Atrophy in Singapore: A Societal Perspective Cost-of-Illness Study.PharmacoEconomics - open · 2026Article
- New SMA era: A broad-range tiered assessment of function for the evolving SMA phenotype (EVOLVE-SMA).Journal of neuromuscular diseases · 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
- Adult SMA REACH: A UK clinical network and real-world data collection study for adults living with spinal muscular atrophy.Journal of neuromuscular diseases · 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
- Rehabilitation in Neuromuscular Diseases: Best Turkish Practice Recommendations by Multidisciplinary Experts.Acta neurologica Belgica · 2026Review
- Effectiveness and Safety of Nusinersen Among Adults with 5q-Spinal Muscular Atrophy: A Multicenter Disease Registry in China.Advances in therapy · 2026Article
- Mapping the patient journey of adult patients with Spinal Muscular Atrophy in Greece: key challenges and priorities for action.Orphanet journal of rare diseases · 2026Article
- Access to care for adults living with spinal muscular atrophy in the UK.BMJ neurology open · 2026Article
- Remaining Burden of Spinal Muscular Atrophy Among Treated Patients: A Survey of Patients and Caregivers.Annals of clinical and translational neurology · 2025Article
- SMA Community Priorities for Future Drug Therapies: Cross-Sectional Survey Findings Representing 410 Adults with SMA.Neurology and therapy · 2025Article
- Review
- The transition from children to young people living with home mechanical ventilation.International journal of qualitative studies on health and well-being · 2024Article
- A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based study.The Lancet regional health. Western Pacific · 2024Article
- Sensory dysfunction in SMA type 2 and 3 - adaptive mechanism or concomitant target of damage?Orphanet journal of rare diseases · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSpinal muscular atrophy (SMA) is a neurodegenerative disease that has a substantial and multifaceted burden on affected adults. While advances in supportive care and therapies are rapidly reshaping the therapeutic environment, these efforts have largely centered on pediatric populations. Understanding the natural history, care pathways, and patient-reported outcomes associated with SMA in adulthood is critical to advancing health policy, practice and research across the disease spectrum. The aim of this study was to systematically review research investigating the healthcare, well-being and lived experiences of adults with SMA.
methodsIn accordance with the Preferred Reported Items for Systematic Reviews and Meta-Analysis guidelines, seven electronic databases were systematically searched until January 2020 for studies examining clinical (physical health, natural history, treatment) and patient-reported (symptoms, physical function, mental health, quality of life, lived experiences) outcomes in adults with SMA. Study risk of bias and the level of evidence were assessed using validated tools.
resultsNinety-five articles met eligibility criteria with clinical and methodological diversity observed across studies. A heterogeneous clinical spectrum with variability in natural history was evident in adults, yet slow declines in motor function were reported when observational periods extended beyond 2 years. There remains no high quality evidence of an efficacious drug treatment for adults. Limitations in mobility and daily activities associated with deteriorating physical health were commonly reported, alongside emotional difficulties, fatigue and a perceived lack of societal support, however there was no evidence regarding effective interventions.
conclusionsThis systematic review identifies the many uncertainties regarding best clinical practice, treatment response, and long-term outcomes for adults with SMA. This comprehensive identification of the current gaps in knowledge is essential to guide future clinical research, best practice care, and advance health policy with the ultimate aim of reducing the burden associated with adult SMA.
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What OpenQuestion holds
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.