New Study Shows how Newborn Screening for SMA Leads to More Children Walking Two Years Post Diagnosis
A new study published in The Lancet Child & Adolescent Health suggests that newborn screening for spinal muscular atrophy (SMA), when combined with early treatment, results in better movement ability in affected children, including the ability to walk. This is based on a comparison between children diagnosed pre-symptomatically via newborn screening and children diagnosed reactively, once symptoms had developed. The evidence draws on real world data from the Australian pilot for SMA newborn screening and clearly demonstrates the clinical effectiveness of newborn screening, underscoring the need for SMA to be added to the newborn screening programme in the UK.
During the study, the health of 15 newborn babies diagnosed with SMA following a positive screening result between 1st August 2018 – 1st August 2020 (the first two years of the Australian newborn screening for SMA pilot programme) was compared with that of 18 infants and children with SMA diagnosed following clinical referral with symptoms of disease in the two years before the pilot began (1st August 2016 – 31st July 2018). Out of the 15 children diagnosed via newborn screening, nine did not show any symptoms of SMA within the first few weeks of life and so were considered presymptomatic when they started treatment.
At two years post diagnosis, the children’s ability to sit, crawl, stand and walk was assessed by health professionals, along with some other measurement of movement ability. Three of the children in the trial (one diagnosed via newborn screening and two following symptom onset) entered palliative care during the two years post diagnosis.
The researchers found that 11/14 of the children diagnosed via newborn screening were walking independently or with assistance at two years post diagnosis compared with only 1/16 of children diagnosed prior to the pilot. The children diagnosed via newborn screening also scored better on average in other measures of movement ability and independence in everyday tasks than the children diagnosed after symptom onset. This is despite the children diagnosed via newborn screening all being younger than the other group.
Read about the study in more detail here.