Newborn screening for spinal muscular atrophy (SMA) , when combined with early treatment, results in better movement performance in affected children, including the ability to walk, when compared to children diagnosed as soon as symptoms develop. The notes are from a new study published on Tuesday (17) in The Lancet Child & Adolescent Health.
Spinal muscular atrophy is a rare genetic neuromuscular condition that predominantly develops in childhood. It is characterized by weak muscles and movement problems that often lead to significant disability and sometimes death.
About one in every 40 to 60 people has the main gene that causes the condition. It is estimated that one in every 10,000 babies will be born with two essential genes missing, leading to the disease.
The age at which symptoms appear varies, but they may not be seen until the baby is several months old, and many individuals with SMA experience a delay in diagnosis. Although there is currently no cure, there are treatment options that can improve symptoms, particularly when a child starts treatment before clinical symptoms develop.
Researcher Arlene D’Silva, from the University of New South Wales, Australia, states that neonatal screening was proposed as the gateway to early diagnosis and more timely access to treatment for SMA. However, until now there has been a lack of evidence on the impact of newborn screening for SMA beyond non-diverse populations in clinical trials.
“Our study is the first to look at real-world data on how children with SMA diagnosed through newborn screening fare compared to children diagnosed after developing symptoms. We believe that our findings support a broader implementation of neonatal screening for SMA,” says Arlene.
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During the study, the health of 15 newborns diagnosed with spinal muscular atrophy after a positive screening result between August 1, 2018 and August 1, 2020 was compared with that of 18 infants and children with SMA diagnosed after clinical referral with symptoms of the disease in the two years prior to the start of the program. Of the 15 children diagnosed by screening, nine did not show symptoms in the first weeks of life and were considered pre-symptomatic when they started treatment.
Two years after diagnosis, the children’s ability to sit, crawl, stand and walk was assessed by health professionals, along with some other measure of movement ability. Three of the children (one diagnosed by screening and two by symptom onset) in the study entered palliative care during the two years after diagnosis.
The researchers found that 11 of 14 of the children diagnosed by screening were walking independently or with assistance two years after diagnosis, compared with just 1 of 16 of the children diagnosed after initial symptoms. Children diagnosed by screening also scored higher on average on other measures of movement ability and independence in everyday tasks than children diagnosed by symptoms. This is despite the fact that all children diagnosed by screening are younger than the other group.
“Our study suggests that newborn screening for SMA reduces current delays in children being diagnosed and treated. Early screening and diagnosis are essential to provide children with SMA with better health outcomes and quality of life. It is extremely promising that the majority of children diagnosed by newborn screening in our study were able to walk after two years, compared to children diagnosed with symptoms who, for the most part, could only sit up without assistance”, says researcher Didu Kariyawasam, from the University of from New South Wales.
The specialist says that although there is an advance in neonatal screening programs for spinal muscular atrophy, less than 2% of newborns in the world are currently screened for the condition. “Our study provides further evidence of the value of newborn screening for SMA and encourages wider implementation of this effective intervention,” she argues.
The authors acknowledge some limitations of the research, including the fact that the study was not randomized, which means that there may be a tendency to selection bias. However, this was mitigated by chronological enrollment of children as they were referred to the service. Furthermore, it was not possible to match the two groups by age, due to the inherent diagnostic delays associated with a clinically based diagnosis.
“Newborn screening allows patients with SMA to access treatment at an early stage, regardless of disease status, resulting in better outcomes for individuals and society. The cost-benefit data of SMA newborn screening will help inform countries wishing to implement a SMA newborn screening program,” said Professor Hisahide Nishio of Kobe Gakuin University in Japan, who was not involved in the study, in a commentary. .
Source: CNN Brasil
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