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Why should a 5q spinal muscular atrophy neonatal screening program be started?

Becker, Michele Michelin; Nardes, Flávia; Dangouloff, Tamara et al.

2024 • In Arquivos de Neuro-Psiquiatria, 82 (10), p. 1 - 9

Peer Reviewed verified by ORBi

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https://hdl.handle.net/2268/324877

DOI
10.1055/s-0044-1791201

PubMed
39396519

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Keywords :

Humans; Infant, Newborn; Neonatal Screening/methods; Muscular Atrophy, Spinal/diagnosis; Muscular Atrophy, Spinal/genetics; Early Medical Intervention; Muscular Atrophy, Spinal; Neonatal Screening; Neurology; Neurology (clinical); Biological Psychiatry

Abstract :

[en] Spinal muscular atrophy (SMA) is a genetic neuromuscular progressive disorder that is currently treatable. The sooner the disease-modifying therapies are started, the better the prognosis. Newborn screening for SMA, which is already performed in many countries, has been scheduled to begin in the near future. The development of a well-organized program is paramount to achieve favorable outcomes for the child who is born with the disease and for the costs involved in health care. We herein present a review paper hoping to point out that SMA neonatal screening is urgent and will not increase the cost of its care.
[pt] A atrofia muscular espinhal (AME) é uma doença genética neuromuscular progressiva tratável atualmente. Quanto antes o tratamento com as terapias modificadoras da doença for iniciado, melhor será o prognóstico. A triagem neonatal para a AME, já implementada em vários países, está programada para iniciar no Brasil em um futuro próximo. O desenvolvimento de um programa bem organizado é fundamental para que se alcance um resultado favorável para as crianças que nascem com a doença e para os custos envolvidos nos cuidados de saúde. Apresentamos um artigo de revisão na esperança de enfatizar que a triagem neonatal para a AME é urgente e não aumentará os custos relacionados aos cuidados.

Disciplines :

Pediatrics

Author, co-author :

Becker, Michele Michelin ; Hospital de Clínicas de Porto Alegre, Unidade de Neurologia Pediátrica, Departamento de Pediatria, Porto Alegre RS, Brazil

Nardes, Flávia ; Universidade Federal do Rio de Janeiro, Instituto de Puericultura e Pediatria Martagão Gesteira, Departamento de Pediatria, Rio de Janeiro RJ, Brazil

Dangouloff, Tamara ; Université de Liège - ULiège > Département des sciences cliniques

Servais, Laurent ; Université de Liège - ULiège > Département des sciences cliniques ; University of Oxford, MDUK Neuromuscular Centre, Oxford, United Kingdom

Araujo, Alexandra Prufer de Queiroz Campos ; Universidade Federal do Rio de Janeiro, Instituto de Puericultura e Pediatria Martagão Gesteira, Departamento de Pediatria, Rio de Janeiro RJ, Brazil

Gurgel-Giannetti, Juliana ; Universidade Federal de Minas Gerais, Faculdade de Medicina, Departamento de Pediatria, Belo Horizonte MG, Brazil

Language :

English

Title :

Why should a 5q spinal muscular atrophy neonatal screening program be started?

Alternative titles :

[pt] Por que se deve iniciar um programa de triagem neonatal para atrofia muscular espinhal 5q?

Publication date :

October 2024

Journal title :

Arquivos de Neuro-Psiquiatria

ISSN :

0004-282X

eISSN :

1678-4227

Publisher :

Associacao Arquivos de Neuro-Psiquiatria, Germany

Volume :

82

Issue :

10

Pages :

1 - 9

Peer reviewed :

Peer Reviewed verified by ORBi

Additional URL :

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0044-1791201.pdf

Available on ORBi :

since 02 December 2024

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