Newborn children are to be tested for a rare genetic disorder through the addition of spinal muscular atrophy (SMA) to the “heel prick” test.
The addition of SMA to the National Newborn Bloodspot Screening Programme is likely to take place next year, according to Minister for Health Stephen Donnelly.
SMA is a rare but serious genetic neuromuscular disorder that affects an average of under seven children born each year.
The condition can be divided into five subtypes based on the typical age of onset, clinical severity and achieved motor milestones. Without treatment, severity ranges from being fatal or causing serious permanent disabilities in childhood to having less severe symptoms that might emerge later in life.
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Cases of SMA are more likely to be severe than mild, with over half classified as subtype 1.
International evidence suggests that earlier identification and treatment for SMA results in better clinical outcomes for children.
At present, in the absence of screening, children with subtypes 1 and 2 SMA are typically identified after missing key developmental milestones around sitting and walking. At this point, they have suffered irreparable motor neuron damage.
The addition of SMA to the heel prick test on babies when they are aged three to five days comes on foot of a recommendation from the National Screening Advisory Committee (NSAC).
Expansion of newborn screening remains a priority, Mr Donnelly said.
“I understand the impact these rare but serious conditions have on children and their families. Screening is one step which can significantly improve the outcomes for children,” he said.
“I have written to the HSE, requesting that they commence implementation planning for the introduction of SMA into the NBS programme. This process will require a number of important steps being taken and will take some time to undertake in order to ensure that once introduced, screening for SMA will be underpinned by robust quality assurance systems and structures.”
Once screening for SMA is implemented, it will bring the number of conditions screened for in Ireland to 11.
