Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy.
Duchenne muscular dystrophy
implementation
newborn screening
presymptomatic
translation
Journal
Journal of neuromuscular diseases
ISSN: 2214-3602
Titre abrégé: J Neuromuscul Dis
Pays: Netherlands
ID NLM: 101649948
Informations de publication
Date de publication:
2023
2023
Historique:
pubmed:
15
11
2022
medline:
11
1
2023
entrez:
14
11
2022
Statut:
ppublish
Résumé
A pilot newborn screening (NBS) program for Duchenne muscular dystrophy (DMD) study proposes to assess the feasibility of the screening procedure, temporal course of the various steps of screening, and the public acceptability of the program. This is particularly vital to ascertain as DMD is considered a 'non-treatable' disease and thus does not fit the traditional criteria for newborn screening. However, modern perspectives of NBS for DMD are changing and point to possible net benefits for children and their families undertaking NBS for DMD. The aim of this workshop was to establish pathways for the successful implementation and evaluation of a pilot NBS for DMD program in Australia. Consensus was reached as to the rationale for, potential benefits, risks, barriers and facilitators of screening, alongside the establishment of screening protocols and clinical referral pathways.
Identifiants
pubmed: 36373292
pii: JND221535
doi: 10.3233/JND-221535
pmc: PMC9881031
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
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