Work

Setting multidisciplinary intervention goals for spinal muscular atrophy patients utilizing the international classification of functioning, disability, and health: a pilot study in a small sample sizes

Year: 2025

Type: article

Abstract: BACKGROUND: Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disorder causing progressive motor function loss, respiratory and swallowing impairments, and significant limitations in activities of daily living (ADLs) and social participation. While gene therapies have enhanced life expectancy, functional management remains crucial. Despite the International Classification of Functioning Disability and Health for Children and Youth (ICF-CY) being a valuable framework for patient-centered care, its integration in setting multidisciplinary rehabilitation goals for SMA patients is underexplored. OBJECTIVE: This study aimed to assess the use of the ICF-CY framework in developing multidisciplinary intervention goals for SMA patients. METHODS: A cross-sectional study involving 6 SMA patients was conducted at a pediatric neurorehabilitation hospital. Data were collected using a standardized ICF-CY-based case record form and analysed to identify patterns of impairment, activity limitations, and environmental factors. RESULTS: Results demonstrated the multifaceted nature of SMA, with significant impairments in motor function, respiratory function, and swallowing, as well as limitations in activities of daily living and social participation. Environmental factors, particularly social support and accessibility, emerged as crucial determinants of overall well-being. CONCLUSIONS: The study underscores the importance of a multidisciplinary approach and the use of ICF-CY framework for developing comprehensive and patient-centered care plans for SMA patients.

Source: Acta Neurologica Belgica

DOI: 10.1007/s13760-025-02771-6

Authors: Gabriele Giannotta, Marta Ruggiero, Greta Pirani, Maria Carmela Oliva, Camilla Ferrante, Antonio Trabacca

Institution: IRCCS Eugenio Medea

Language: English

Topic: Neurogenetic and Muscular Disorders Research

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $4,090