Rare genetic mutations associated with altered respiratory muscles are more common in children who die from unexpected death syndrome than in other babies, according to the results of a study. study published in the medical journal The Lancet. Unexpected infant death (MIN), long called “sudden infant death“, is defined as the sudden, unexpected death without an identified cause, of a baby aged 1 month to 1 year. According to the Institute for Public Health Surveillance, the number of unexpected infant deaths is 140 per year in France.
Researchers conducted a study with two cohorts of 278 children of European Caucasian descent who died of unexpected infant death in the UK and US.
The study looked at the prevalence of mutations in the SCN4A gene that affect the functioning of respiratory muscles. Mutations in this gene are associated with a range of genetic neuromuscular disorders.
A link between genetic mutations and unexpected infant death syndrome
While these mutations are very rare and are identified in fewer than five in 100,000 people, the study found such mutations in four of the 278 children who died from the sudden infant death syndrome, against none in the 729 healthy controls.
This mutation is overrepresented in this group and could indicate a genetic element of unexpected infant death.
“Our study is the first to link unexpected infant death with genetic weakness in respiratory muscles. However, more research will be needed to confirm and understand this link,” said one of the authors. study, Professor Michael Hanna. This mutation could increase the likelihood of unexpected infant death in some cases. During this time, the mutation could potentially leave children with weaker respiratory muscles and, if an external stressor affects their breathing (tobacco smoke, choking on bedding, minor illness or breathing obstruction), they may be less able to correct their breathing, cough or catch their breath, ”explains Michael Hanna.
The genetic factor alone would not explain the unexpected death of the infant.
It is therefore recommended to follow the medical recommendations. To prevent this phenomenon, babies are asked to lie on their backs in a bed without soft toys or obstacles and to avoid making them sleep in their parents’ bed.
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