According to a recent Australian study, infants with spinal muscular atrophy (SMA) who receive early diagnosis and treatment can significantly increase their mobility and ability to walk.
The findings, which experts reported in The Lancet Child & Adolescent Health, suggest that all newborns should be screened for SMA.
Combatting SMA with Early Diagnosis
SMA is a genetic disorder that causes muscle weakness and wasting by compromising the nerve cells in the spinal cord.
There are currently no cures for this leading genetic cause of infant mortality. Recent advances in treatment, however, have resulted in significant improvements in the prognosis for affected children.
The study, led by researchers from Australia's University of New South Wales, examined the outcomes of 15 infants with type one SMA, the most severe form of the disease.
The infants were divided into two groups: those diagnosed and treated within the first six months of life and those diagnosed later after symptoms had already developed.
The Australian Study Results
The findings were eye-opening. Standard.co.uk tells us that after two years, the results showed that 11 of the 14 children who had been diagnosed were either walking without assistance or independently.
Only one participant out of those diagnosed after the onset of symptoms was able to develop the ability to walk.
According to the study's findings, those diagnosed with the condition through newborn screening had better average scores on other measures of movement ability and independence in everyday tasks than those diagnosed with the condition based on symptoms.
During the trial, palliative care was initiated for three of the children; one had been diagnosed as a result of newborn screening, and the other two had been diagnosed as a result of the onset of symptoms.
What This Means
Eurekalert.org tells us that this is the first study to directly compare the screening of newborns for SMA with more traditional methods of diagnosis and management, and it aims to provide evidence for the clinical effectiveness of newborn screening.
The authors advocate for more widespread adoption of newborn screening for SMA, which should be considered.
"It's extremely promising that the majority of children diagnosed via newborn screening in our study were able to walk after two years, compared to those children diagnosed through symptoms who were mostly only able to sit unassisted," says lead researcher Dr. Didu Kariyawasam of the University of New South Wales.
SMA newborn screening is currently available in the United States, Japan, and Germany. However, in the United Kingdom, the National Screening Committee is now considering whether SMA screening should be included in the newborn blood spot screening program, with pilot studies underway.
SMA is also planned to be included in the UK's Newborn Genome Program, a research project to diagnose and treat rare genetic disorders in babies using complete DNA sequences from 100,000 newborns.
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