Newborn screening for spinal muscular atrophy delivers improved outcomes, researchers report today.
The study was led by Dr Arlene D’Silva at the University of New South Wales, Australia, and colleagues.
They gathered information on 30 children diagnosed with spinal muscular atrophy, or SMA. Analysis showed that 11 of the 14 children whose condition was found at newborn screening were able to walk independently or with assistance two years after diagnosis, but this was true for only one of the 16 diagnosed later on.
The children in the second group were on average four months old at diagnosis. Full details appear in the Lancet Child & Adolescent Health today.
Newborn screening can allow earlier treatment, explain the authors, which results in better movement ability. The children in the study diagnosed via screening also showed better movement ability and independence in everyday tasks.
Dr D’Silva said: “Newborn screening has been proposed as the gateway to early diagnosis and more-timely access to treatment for SMA, however before now there was a lack of evidence on the impact of newborn screening for SMA beyond the non-diverse populations in clinical trials.
"Our study is the first to look at real world data on how children with SMA diagnosed via newborn screening fare compared to children diagnosed after symptoms develop. We believe our findings justify broader implementation of newborn screening for SMA."
Kariyawasam, D. S. et al. Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study. The Lancet 17 January 2023; doi: 10.1016/S2352-4642(22)00342-X
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