ArticleNeurology and therapy2023
Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study.
Article in Neurology and therapy, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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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.
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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.
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Who cites it
14 citing papers in PubMed, 24 citations in OpenAlex.
- Patient reported outcome measures in spinal muscular atrophy and duchenne muscular dystrophy: review of instruments and their inclusion in clinical and regulatory processes.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Review
- Mapping Health State Utility from Disease-Specific Measures in Spinal Muscular Atrophy and Paroxysmal Nocturnal Hemoglobinuria.PharmacoEconomics · 2026Article
- Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project.Journal of neuromuscular diseases · 2025Article
- A qualitative, mixed-method approach to reaching consensus on function, fatigue, and fatigability outcomes in teens and adults living with spinal muscular atrophy.Orphanet journal of rare diseases · 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
- [Spinal Muscular Atrophy: The Reality of the Adult Patient in Spain].Revista de neurologia · 2025Article
- 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
- Design and Validation of a Clinical Outcome Measure for Adolescents and Adult Patients with Spinal Muscular Atrophy: SMA Life Study Protocol.Neurology and therapy · 2024Article
- Letter to the Editor Regarding "Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study".Neurology and therapy · 2024Article
- Evaluating Perceived Fatigue within an Adult Spinal Muscular Atrophy Population.Neurology and therapy · 2023Article
- Measuring Fatigue and Fatigability in Spinal Muscular Atrophy (SMA): Challenges and Opportunities.Journal of clinical medicine · 2023Review
- Development of the SMA EFFORT: A new approach to characterize perceived physical fatigability in spinal muscular atrophy.Journal of neuromuscular diseasesArticle
- Could an outcome-based agreement be operationalized using real-world data from the Canadian Neuromuscular Disease Registry? Perspectives from an expert-led assessment in spinal muscular atrophy.Therapeutic advances in rare diseaseArticle
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Authors and funding
20 authors at 16 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionOutcome measures traditionally used in spinal muscular atrophy (SMA) clinical trials are inadequate to assess the full range of disease severity. The aim of this study was to assess the psychometric properties of a set of existing questionnaires and new items, gathering information on the impact of SMA from the patient and caregiver perspectives.
methodsThis was a multicenter, prospective, noninterventional study including patients with a confirmed diagnosis of 5q-autosomal-recessive SMA aged 8 years and above, or their parents (if aged between 2 and 8 years). The set of outcome measurements included the SMA Independence Scale (SMAIS) patient and caregiver versions, the Neuro-QoL Fatigue Computer Adaptive Test (CAT), the Neuro-QoL Pain Short Form-Pediatric Pain, the PROMIS adult Pain Interference CAT, and new items developed by Fundación Atrofia Muscular España: perceived fatigability, breathing and voice, sleep and rest, and vulnerability. Reliability, construct validity, discriminant validity, and sensitivity to change (4 months from baseline) were measured.
resultsA total of 113 patients were included (59.3% 2-17 years old, 59.3% male, and 50.4% with SMA type II). Patients required moderate assistance [mean patient and caregiver SMAIS (SD) scores were 31.1 (12.8) and 7.6 (11.1), respectively]. Perceived fatigability was the most impacted domain, followed by vulnerability. Cronbach's alpha coefficient for perceived fatigability, breathing and voice, and vulnerability total scores were 0.92, 0.88, and 0.85, respectively. The exploratory factor analysis identified the main factors considered in the design, except in the sleep and rest domain. All questionnaires were able to discriminate between the Clinical Global Impression-Severity scores and SMA types. Sensitivity to change was only found for the SMAIS caregiver version and vulnerability items.
conclusionsThis set of outcome measures showed adequate reliability, construct validity, and discriminant validity and may constitute a valuable option to measure symptom severity in patients with SMA.
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