Italian validation of the SMA independence scale–upper limb module

Spinal muscular atrophy (SMA) is a progressive disorder caused by SMN1 mutations. While therapies have changed its course, current motor scales often miss aspects. This study aimed to validate the Italian SMA Independence Scale (SMAIS-ULM) for reliability, applicability, and expansion across diverse SMA phenotypes. Patients with genetically confirmed 5qSMA were recruited from 12 Italian centers. Analyses included Intraclass Correlation Coefficients (ICCs) for test-retest reliability, the Kruskal-Wallis for group comparisons, and the Spearman correlations with functional measures. Ceiling/floor effects were defined as ≥ 85% of a group reaching the maximum or minimum score. The study analyzed 472 completed questionnaires: 263 from caregivers (mean age 26.4 ± 17.6; 29 SMA I, 123 SMA II, 104 SMA III, 7 presymptomatic) and 209 from patients (mean age 33.1 ± 16.4; 3 SMA I, 101 SMA II, 104 SMA III; 1 SMA IV), including 195 matched caregiver-patient pairs. ICC was conducted in 29 caregivers and 31 patients; values ranged from 0.97 to 1.00. SMAIS-ULM scores differed by SMA type, with SMA III/presymptomatic subjects scoring higher than SMA I/II (p < 0.001) and walkers scoring higher than sitters/non-sitters (p < 0.001). Floor effects were found in 18.9% of non-sitters and 50% of walkers, with comparable patterns in patient responses. Strong correlations with functional measures were found, with no significant differences between caregiver and patient reports. Conclusion: The findings confirm the reliability and validity of the SMAIS-ULM as an effective tool for measuring functional independence in individuals with SMA, both from the caregiver and patient perspectives.

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Publication Details

Journal
European Journal of Pediatrics
Published
2025-06-09
DOI
https://doi.org/10.1007/s00431-025-06207-4
Citations
1
Primary Topic
Neurogenetic and Muscular Disorders Research
Type
article
Field-Weighted Citation Impact
1.63

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article

Italian validation of the SMA independence scale–upper limb module

Giulia Ricci, Antonio Trabacca, Adele D’Amico, Gabriele Siciliano et al.
1 citations
European Journal of Pediatrics
Neurogenetic and Muscular Disorders Research
1.63
article

Italian validation of the SMA independence scale–upper limb module

Giulia Ricci, Antonio Trabacca, Adele D’Amico, Gabriele Siciliano, Lucia Ruggiero, Michela Coccia, Giorgia Coratti, A Longo, Emanuele Maria Costantini, Francesca Cumbo, Lorenzo Verriello, Simone Morando, G Gadaleta, Tiziana Mongini, Maria Carmela Pera, Chiara Bravetti, Marika Pane, Maria Elena Pessa, Caterina Agosto, Veria Vacchiano, Rocco Liguori, Amanda Ferrero, Francesca Benedetti, Michela Catteruccia, Noemi Brolatti, Laura Antonaci, Dario Zoppi, Roberto Chiappini, Claudia Faini, Francesca Torri, Anna Russo, Claudio Bruno, Eugenio Mercuri
article en
1 citations

Abstract

Spinal muscular atrophy (SMA) is a progressive disorder caused by SMN1 mutations. While therapies have changed its course, current motor scales often miss aspects. This study aimed to validate the Italian SMA Independence Scale (SMAIS-ULM) for reliability, applicability, and expansion across diverse SMA phenotypes. Patients with genetically confirmed 5qSMA were recruited from 12 Italian centers. Analyses included Intraclass Correlation Coefficients (ICCs) for test-retest reliability, the Kruskal-Wallis for group comparisons, and the Spearman correlations with functional measures. Ceiling/floor effects were defined as ≥ 85% of a group reaching the maximum or minimum score. The study analyzed 472 completed questionnaires: 263 from caregivers (mean age 26.4 ± 17.6; 29 SMA I, 123 SMA II, 104 SMA III, 7 presymptomatic) and 209 from patients (mean age 33.1 ± 16.4; 3 SMA I, 101 SMA II, 104 SMA III; 1 SMA IV), including 195 matched caregiver-patient pairs. ICC was conducted in 29 caregivers and 31 patients; values ranged from 0.97 to 1.00. SMAIS-ULM scores differed by SMA type, with SMA III/presymptomatic subjects scoring higher than SMA I/II (p < 0.001) and walkers scoring higher than sitters/non-sitters (p < 0.001). Floor effects were found in 18.9% of non-sitters and 50% of walkers, with comparable patterns in patient responses. Strong correlations with functional measures were found, with no significant differences between caregiver and patient reports. Conclusion: The findings confirm the reliability and validity of the SMAIS-ULM as an effective tool for measuring functional independence in individuals with SMA, both from the caregiver and patient perspectives.

European Journal of PediatricsVol. 184(7)
Università Cattolica del Sacro Cuore (IT), University of Pisa (IT), University of Parma (IT), Istituto Giannina Gaslini (IT), Agostino Gemelli University Polyclinic (IT), Centro Clinico Nemo (IT), Neuroscience Institute (IT), Istituto delle Scienze Neurologiche di Bologna (IT), Bambino Gesù Children's Hospital (IT), University of Turin (IT), University of Naples Federico II (IT), University of Genoa (IT), University of Bologna (IT)
Roche Italia
Openalex Percentile: Top 16%
Neurogenetic and Muscular Disorders Research
1.63
DOIOpen Access PDFOpenAlex
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