Italian validation of the SMA independence scale-upper limb module.

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 S

SUBMITTER: Bravetti C 

PROVIDER: S-EPMC12149250 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature