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Adaptive functioning in school-aged children with spinal muscular atrophy in the treatment era: a non-randomised
Emily E Farah1, Sarah-Grace Paguinto1,2, Melissa R Mandarakas1,3
1Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, University of New South Wales, Sydney, Australia.
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:
Thirty-nine children participated (NBS n = 18, CR n = 21) with median treatment duration of 67.3 months (IQR 54.0-85.0). Children had high levels of participation with scores within expected range for age-matched peers for social/cognitive (38/39, 97%), responsibility (35/39, 90%), daily activities (29/39, 74%) and mobility (16/39, 41%) domains. A greater proportion of children identified through NBS achieved expected scores for all domains compared to children diagnosed through CR (NBS 14/18 (78%), CR 2/21 (10%), p < 0.001). All children diagnosed through NBS with 3 survival motor neuron 2 gene (SMN2) copies achieved expected scores for all domains (3 SMN2 7/7 (100%), 2 SMN2 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:
Whilst heterogenous in terms of performance-based measures, children with SMA have collective strengths in social-cognitive and responsibility aspects of adaptive functioning. Early diagnosis and treatment through NBS and SMN2 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).
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