Adaptive functioning in school-aged children with spinal muscular atrophy in the treatment era: a non-randomised cohort study

Background: Despite diagnostic and therapeutic advances for spinal muscular atrophy (SMA), long-term outcomes focused on functional independence for children have not been explored. This study aimed to characterise adaptive functioning for affected children within the contemporary SMA treatment paradigm. Methods: This prospective, non-randomised Australian cohort study was conducted from January 1 to November 14 2025 and included children with SMA aged 4-12 years, diagnosed and treated through newborn screening (NBS) or clinical referral (CR). Adaptive functioning was primarily assessed using the Pediatric Evaluation of Disability Inventory Computer Adaptive Test. Findings: 7/11 (64%)). Children diagnosed through CR with higher functional status at diagnosis reported greater frequency of daily activities scores within expected range (walkers 7/7 (100%), sitters 2/5 (40%), non-sitters 3/9 (33%), p = 0.02). Interpretation: copy number are important modifiers of long-term adaptive functioning, providing evidence for individualized goal-setting, monitoring and multidisciplinary care. Funding: National Health and Medical Research Council Investigator Grant (1194940, 2026317), University of New South Wales (UGCA1064).