2024-07-12 10:05:00
This pathology affects approximately 1 in 10,000 newborns and is characterized byNo irreversible neuromuscular degeneration. In the most severe cases, spinal muscular atrophy can cause affected children to die before the age of two and soon become victims of difficulty eating or breathing.
Affected babies are asymptomatic at birth and usually develop the first symptoms within the next few weeks.
“Between 2017 and 2021, several specific drug therapies emerged that revolutionized the management of the disease”more “To optimize their effectiveness, these treatments must be given to babies as early as possible”HAS stated in a press release.
care “It will improve patients’ health (especially better ability to move, breathe and nourish), quality of life, and promote caregiver support before symptoms appear.”according to her.
Since January 2023, two regions, Grand Est and New Aquitaine, have been experimenting with genetic screening for spinal muscular atrophy at birth. Associations (especially AFM-Téléthon) and experts called for its rollout throughout France.
A study of two regions “Shows feasibility of screening to reduce median time to diagnosis to 7 days”compared to approximately three to five months, and “Treatment 1 month ago (so before the first symptoms appear) In some newborns, thereby optimizing chances of survival children and improve their quality of life”pointed out HAS.
Psychological support following diagnosis results are announced
HAS also recommends that families be provided with psychological support by professionals familiar with the disease. “Including parents of children with milder or later-stage disease once diagnoses are made public” – Not eligible for medication, but must benefit from close medical supervision.
So far in France, children are screened for 13 diseases within two or three days of birth (not mandatory, but highly recommended)taken from the baby’s heel and collecting a few drops of blood on a blotting paper.
The aim is to detect certain rare but serious diseases (often with genetic causes), treat them before the first signs appear, and avoid or limit their effects.
Unlike other countries such as Belgium and Germany, France has long opposed screening “Heredity” Some elected officials are born fearful of threats‘”eugenics”. The Bioethics Law of 2021 changes this situation.
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