Newborn screening for spinal muscular atrophy: time is motor neuron

07 May 20264 min read229 viewsJournal Feed

GIST (Key Takeaways)

Newborn screening for spinal muscular atrophy (SMA) has changed the diagnostic paradigm for children with the condition, yet delays in implementation are causing inequities within the SMA community. A unified global approach is needed to implement screening and mitigate the barriers in access to high-cost treatments. Access to this article via Institution of Civil Engineers Library is not available. Bishop, H. Jesy Nelson provides emotional update on twins’ rare genetic condition. The Independent https://www.independent.co.uk/bulletin/culture/jesy-nelson-twins-sma-update-b2911412.html (31 January 2026). Strauss, K. A.
et al. Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial. Nat. Med. 28 , 1381–1389 (2022). Kariyawasam, D. S. et al.
Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study. Lancet Child Adolesc. Health 7 , 159–170 (2023). Shih, S. T. F. et al. Modelling the cost-effectiveness and budget impact of a newborn screening program for spinal muscular atrophy and severe combined immunodeficiency.
Int. J. Neonatal Screen. 8 , 45 (2022). Kariyawasam, D. S. T., Russell, J. S., Wiley, V., Alexander, I.