CHILDREN with spinal muscular atrophy (SMA) are more likely to walk, be more functionally independent, and free of respiratory and feeding support when screened, diagnosed, and treated shortly after birth, according to a new study conducted at Sydney Children's Hospitals Network (SCHN) by UNSW Sydney researchers.
Significantly, the findings show newborn bloodspot screening (NBS) for SMA, coupled with the potential to access disease-modifying therapies, is correlated with greater motor milestone acquisition with those diagnosed before the onset of symptoms reaching regular childhood developmental milestones.
The study, published in The Lancet Child & Adolescent Health, is one of the first to investigate the effectiveness of NBS for SMA beyond clinical trial populations.
"The research shows the effectiveness of newborn screening for spinal muscular atrophy in the broader population," said the lead author of the study Dr Didu Kariyawasam, UNSW Medicine & Health, and a paediatric neurologist at SCHN.
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