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

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.