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Pediatría Atención Primaria
versión impresa ISSN 1139-7632
Resumen
LOPEZ GRANADOS, Lucía et al. Neonatal screening for spinal muscular atrophy: the time is now. Rev Pediatr Aten Primaria [online]. 2021, vol.23, n.90, pp.211-214. Epub 09-Mayo-2022. ISSN 1139-7632.
Abstract
Spinal muscular atrophy (SMA) is the most common neurodegenerative disease in childhood. The recent approval of new effective therapies has justified the implementation of a pilot neonatal screening program in the Federation Wallonia Brussels (FWB).
The neonatal screening procedure currently used for screening for SMA in newborns in southern Belgium is described. The cost of screening is € 3.10 per child. If this configuration is maintained, it represents an annual cost of € 181,000 (for approximately 60,000 annual births in FWB).
In the context of having a reliable neonatal screening method, with a moderate economic cost and the possibility of a viable immediate treatment, the authors recommend the inclusion and financing of the screening for the spinal muscular atrophy in the list of diseases officially included in the framework of the neonatal screening program.
Palabras clave : Neonatal screening; SMN1; Spinal muscular atrophy; Werdnig-Hoffman disease.