Neonatal screening should be extended in France to spinal muscular atrophy, a rare and very serious genetic disease, recommended on July 10, 2024 the High Health Authority, emphasizing the benefit of early treatment.
Asymptomatic infants at birth
This pathology, which affects approximately 1 in 10,000 births, is characterized by irreversible neuromuscular degeneration. In its most severe forms, spinal muscular atrophy kills the affected child before the age of two, quickly becoming the victim of difficulty eating or breathing. Asymptomatic at birth, affected infants generally show the first signs in the following weeks.
“ Between 2017 and 2021, several specific drug therapies have emerged, revolutionizing the management of the disease" , but " to optimize their effectiveness, these treatments must be administered to infants as early as possible“, noted the HAS in a press release. The care " before symptoms appear would improve the health of patients (better motor, respiratory and nutritional capacities, in particular), their quality of life and facilitate their support by caregivers" , according to her.
An experiment in two regions
Since January 2023, two regions, Grand Est and Nouvelle-Aquitaine, have experimented with genetic screening for spinal muscular atrophy at birth. Associations, notably the AFM-Telethon, and specialists called for a generalization throughout France. The study in the two regions “ showed the feasibility of screening with a reduction in the median diagnostic time to seven days“, compared to around three to five months, and “ the implementation of treatment before the age of one month (therefore before the appearance of the first symptoms) in several newborns, thus optimizing the children's chances of survival and improving their quality of life“, points out the HAS.
The HAS also recommends psychological support for families by a professional who is familiar with the disease. from the announcement of the diagnosis, including for parents of children affected by a less severe or later form » – not eligible for drug treatments but must benefit from close medical supervision.
Screening for 13 diseases
Until now, in France, in the two or three days following the birth of a child, screening – not obligatory but strongly recommended – is offered for 13 diseases, from a few drops of blood taken from the infant's heel. and collected on a blotter.
The objective is to detect certain rare but serious pathologies, generally of genetic origin, to treat them before the first signs and avoid, or limit, their impacts. Unlike other countries, such as Belgium and Germany, France has long been opposed to screening “ genetic » at birth, some elected officials worrying about a threat of »eugenics“. The 2021 bioethics law has changed the situation.
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