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. 2025 Jun 4;20(1):274.
doi: 10.1186/s13023-025-03832-y.

Preliminary psychometric validation of patient-reported outcomes relevant to individuals with spinal muscular atrophy and their caregivers

Maria Grazia Cattinari  1 , Samuel Ignacio Pascual-Pascual  2 , Mencía de Lemus  3   4   5 , Julita Medina  6 , María Dumont  3 , Pablo Rebollo  7 , Juan Francisco Vázquez-Costa  8   9   10
Affiliations

Preliminary psychometric validation of patient-reported outcomes relevant to individuals with spinal muscular atrophy and their caregivers

Maria Grazia Cattinari et al. Orphanet J Rare Dis. .

Abstract

Background: There is a need to expand the current scope of assessment tools usually applied to patients with Spinal Muscular Atrophy (SMA). This study aimed to assess the psychometric properties (reliability and discriminant validity) of a set of new patient-reported outcome measures (PROMs) called PROfuture, after analysing the performance of individual items of the questionnaires.

Results: Patients included in the Spanish SMA Patient-Reported Registry (RegistrAME) were invited to answer 10 questionnaires: Fatigability; Pain; Scoliosis and Contractures (S&C); Feeding (F); Breathing and Voice (B&V); Sleep and Rest (S&R); Vulnerability; Infections and Hospitalisations (I&H); Time spent in care (T); and Mobility and Independence (M&I). The diagnosis date, type of SMA, functional classification, and comorbidities were also collected. A total of 160 patients of the 330 included in RegistrAME participated in the study: mean age (SD) 18 (16.6) years, 27.5% non-sitter, 46.88% sitter, and 25.63% walker, 20.0% type 1 SMA, 51.88% type 2, and 28.12% type 3. The frequency of symptoms varied from 43.5% of patients reporting some degree of Pain to 96.3% reporting some degree of Fatigability. The reliability assessed by Cronbach's alpha coefficient was > 0.75 for all the PROs and > 0.9 for S&C, F, B&V, T, and M&I. Regarding content validity, scores were higher (worse health status) in type 1 SMA patients than in types 2 and 3, and were also higher for non-sitter patients than for sitter and walker patients.

Conclusions: The ten questionnaires included in the PROfuture set were developed based on what people living with spinal muscular atrophy and their caregivers consider relevant. This preliminary study provides an initial basis to consider their potential usefulness in assessing aspects that matter to this population. The early findings are promising, however, further extensive psychometric evaluation is needed. PROfuture is a new set of patient-reported outcome measures, specifically designed by and for individuals living with spinal muscular atrophy and their caregivers. Future studies will help strengthen the evidence regarding its reliability and validity.

Keywords: Patient reported outcomes; Psychometric properties; Quality of life; Spinal muscular atrophy; Treatment outcomes.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: The study protocol was approved by the Ethics Committee of the “Hospital Clínico San Carlos” of Madrid (21/561-E). All participants provided their informed consent to participate in the registry. Consent for publication: Not applicable. Competing interests: MGC has received support from Roche for attendance at scientific congresses. SIPP has received honoraria for conferences, consultancies, and participation in clinical trials with Biogen, Roche and Novartis outside the submitted work. ML has offered advisory support to Roche in the development of risdiplam. JM has received honoraria for conferences, consultancies, and participation in clinical trials with Biogen, PTC, Roche, and Avexis outside the submitted work. MD has no conflict of interest to declare. PR was an employee of IQVIA who received an honorarium from Fundame in connection with the development of this manuscript. JFVC is funded by grants of the Instituto de Salud Carlos III (JR19/00030, PI Vázquez) and received personal fees from Biogen and Roche outside the submitted work.

Figures

Fig. 1
Fig. 1
Mean scores and standard error of the PROfuture questionnaires
See this image and copyright information in PMC

References

    1. Markowitz JA, Singh P, Darras BT. Spinal muscular atrophy: a clinical and research update. Pediatr Neurol. 2012;46(1):1–12. - PubMed
    1. Farrar MA, Kiernan MC. The Genetics of Spinal Muscular Atrophy: Progress and Challenges. Neurotherapeutics: The Journal of the American Society for Experimental NeuroTherapeutics. 2015;12(2):290–302. - PMC - PubMed
    1. Kolb SJ, Kissel JT. Spinal muscular atrophy. Neurol Clin. 2015;33(4):831–46. - PMC - PubMed
    1. Verhaart IEC, Robertson A, Wilson IJ, Aartsma-Rus A, Cameron S, Jones CC, et al. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review. Orphanet J Rare Dis. 2017;12(1):124. - PMC - PubMed
    1. Sugarman EA, Nagan N, Zhu H, Akmaev VR, Zhou Z, Rohlfs EM, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of > 72,400 specimens. Eur J Hum Genetics: EJHG. 2012;20(1):27–32. - PMC - PubMed

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