Strengthening adaptive functioning and participation in the contemporary spinal muscular atrophy paradigm: clinical perspectives and future directions

Background The developmental trajectory for children with spinal muscular atrophy (SMA) has been significantly altered following the availability of survival motor neuron (SMN) augmenting therapies. In the treatment era, a holistic patient-centred approach that looks beyond outcomes of survival and motor function is critical and must incorporate everyday functioning (“adaptive functioning”) and participation. Methods A literature review was conducted using PubMed, drawing on articles published until 2025. Keywords included: “spinal muscular atrophy”, “adaptive function”, “adaptive behaviour”, “the International Classification of Functioning, Disability and Health”, “function”, “participation” and “patient-reported outcome measures”. Articles were screened and included on the basis of their contextual relevance to the current SMA care paradigm, with preference given to studies providing insights into the application of the International Classification of Functioning, Disability and Health (ICF), and adaptive functioning. Results This review highlights the growing importance of everyday functioning and participation within the contemporary SMA treatment paradigm. Current evidence suggests that adaptive functioning is affected across mobility, self-care, social, and neurodevelopmental domains. The ICF provides a practical and multidimensional framework that supports a holistic assessment approach, extending beyond traditional performance-based and motor-focused outcomes to better capture capabilities in everyday functioning, including outcomes that directly influence independence, participation, and quality of life for children with SMA and their families. Furthermore, the ICF may assist in identifying treatment goals, guiding personalised management, and facilitating multidisciplinary collaboration. A limitation of current evidence is that thus far studies have predominately been completed prior to the advent of SMN augmenting therapies, emphasising the necessity of assessing adaptive functioning, especially in the domain of patient-reported outcome measures, to support personalised care and meaningful long-term outcome assessment. Conclusions The ICF is highly applicable for applying a holistic management approach for SMA in the treatment era, enabling SMA to be conceptualised through a multidimensional lens. Developing a minimum set of core SMA outcomes which incorporate the ICF framework and aim to understand and improve outcomes is a priority and of practical relevance to people with SMA, families and clinicians. This approach promotes an essential paradigm shift by emphasising functioning and participation as key focuses within clinical care and research.