Year: 2025
Type: article
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. What is Known: • Disease-modifying therapies have modified natural history of all SMA types. • Patient-reported tools are increasingly used to assess daily task assistance, independence and participation. What is New: • SMAIS-ULM proved applicable across a wide functional spectrum in SMA, with strong score variation by type and function in Type II/III SMA. • Ambulant individuals often had ceiling effect but ~50% of them showed limited independence, supporting the scale’s value in a discriminating among patients who have maintained ambulation.
Source: European Journal of Pediatrics
Authors: 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, ITASMAC working group, 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
Institutions: Agostino Gemelli University Polyclinic, Centro Clinico Nemo, Università Cattolica del Sacro Cuore, University of Parma, University of Turin, Azienda Ospedaliero-Universitaria delle Marche, Bambino Gesù Children's Hospital, Istituto Giannina Gaslini, University of Genoa, University of Udine, University of Bologna, Istituto delle Scienze Neurologiche di Bologna, University of Naples Federico II, University of Pisa, IRCCS Eugenio Medea, University of Padua, Azienda Ospedale - Università Padova
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $2,990
Funder: Roche Italia
OpenAlex ID: W4411137262