Vol. 23 - Num. 90
Special Articles
Neonatal screening for spinal muscular atrophy: the time is now
Lucía López Granadosa, François Boemerb, Tatiana Pereirac, Laurent Servaisd, Ingrid Moralese
aPediatra. Office de la Naissance et de l’Enfance (ONE). Bruselas. Bélgica.
bLaboratorio de Bioquímica Genética. Departamento de Genética Humana. CHU Lieja. Universidad de Lieja. Bélgica.
cEnfermera. Gestión de programas de salud. Office de la Naissance et de l’Enfance. Bruselas. Bélgica.
dNeuropediatría. División de Neurología pediátrica. Centro de referencia de Enfermedades Neuromusculares. Departamento de Pediatría. CHU, Lieja, Bélgica. MDUK Neuromuscular Centre, Departamento de Pediatría, Universidad de Oxford. Reino Unido.
eOffice de la Naissance et de l’Enfance (ONE). Bruselas. Bélgica .
Correspondence: L López. E-mail: luciagranados@yahoo.es
Reference of this article: López Granados L, Boemer F, Pereira T, Servais L, Morales I. Neonatal screening for spinal muscular atrophy: the time is now. Rev Pediatr Aten Primaria. 2021;23:211-4.
Published in Internet: 21-06-2021 - Visits: 6583
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.
Keywords
● Neonatal screening ● SMN1 ● Spinal muscular atrophy ● Werdnig-Hoffman disease
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