Limitations in activities of daily living in individuals with spinal muscular atrophy: A scoping review and multidisciplinary recommendations for clinical practice
Year: 2025
Type: article
Study design: Systematic Review
Abstract: OBJECTIVE: This scoping review aims to explore and map the most frequently reported limitations in activities of daily living (ADLs) among individuals with spinal muscular atrophy (SMA), with the goal of informing clinical assessment and multidisciplinary care strategies. METHODS: The review followed the Joanna Briggs Institute (JBI) methodology for scoping reviews and adhered to the PRISMA-ScR reporting guidelines. A comprehensive search was conducted across PubMed, Scopus, Web of Science, and Embase up to December 2024. Eligible studies included qualitative, quantitative, and mixed-methods designs that reported ADL limitations in individuals with any SMA subtype. Data were extracted and descriptively synthesized, with additional input from a multidisciplinary rehabilitation team to provide practical clinical recommendations. RESULTS: Sixteen studies were included, encompassing a wide range of methodologies and SMA types. The most frequently reported ADL limitations included mobility (e.g., walking, transferring, climbing stairs) and self-care tasks (e.g., dressing, toileting, feeding). Upper limb function and instrumental ADLs, such as cooking, writing, and technology use, were less frequently assessed but emerged as important in maintaining autonomy, particularly in adults. Recent studies post-gene therapy demonstrates a broader focus on daily functioning and patient-reported outcomes. A multidisciplinary framework outlining domain-specific interventions and professional roles was developed based on the extracted data. CONCLUSIONS: While mobility remains central to SMA-related disability, this review highlights the substantial burden of self-care and upper limb limitations. Findings support a shift toward more comprehensive, patient-centered assessment and rehabilitation approaches in SMA care.
Institution: IRCCS Eugenio Medea
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W4416717913