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<p>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 (<i>p</i> &lt; 0.001) and walkers scoring higher than sitters/non-sitters (<i>p</i> &lt; 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. <i>Conclusion</i>: 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.</p>

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Italian validation of the SMA independence scale–upper limb module

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年6月10日

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  • Chiara Bravetti,
  • Giorgia Coratti,
  • Maria Carmela Pera,
  • Giulio Gadaleta,
  • Tiziana Mongini,
  • Michela Coccia,
  • Amanda Ferrero,
  • Emanuele Maria Costantini,
  • Antonella Longo,
  • Francesca Cumbo,
  • Michela Catteruccia,
  • Adele D’Amico,
  • Simone Morando,
  • Noemi Brolatti,
  • Claudio Bruno,
  • Lorenzo Verriello,
  • Maria Elena Pessa,
  • Laura Antonaci,
  • Claudia Faini,
  • Rocco Liguori,
  • Veria Vacchiano,
  • Lucia Ruggiero,
  • Dario Zoppi,
  • Anna Russo,
  • Francesca Torri,
  • Giulia Ricci,
  • Roberto Chiappini,
  • Gabriele Siciliano,
  • Antonio Trabacca,
  • Caterina Agosto,
  • Francesca Benedetti,
  • Marika Pane,
  • Eugenio Mercuri,
  • Anna Capasso,
  • Chiara Arpaia,
  • Gianpaolo Cicala,
  • Sophia Paolucci,
  • Chiara Cutrì,
  • Marianna Villa,
  • Simona Sestito,
  • Agnese Polo,
  • Anna Falco,
  • Azzurra Rausa,
  • Marianna Moro,
  • Chiara Porto,
  • Alessia De Gioia,
  • Elena De Rosa,
  • Elisa Rolleri,
  • Federica Ascione,
  • Federica Giammartino,
  • Giorgia Petracca,
  • Lucia Esposito,
  • Maddalena Bianchetti,
  • Giuseppe Marsella,
  • Martina Malaspina,
  • Irene Dainesi,
  • Sara Mannucci,
  • Martina De Maria,
  • Giacomo De Luca,
  • Irene Mizzoni,
  • Adelina Carlesi

摘要

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.