Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders.
Journal
Annals of neurology
ISSN: 1531-8249
Titre abrégé: Ann Neurol
Pays: United States
ID NLM: 7707449
Informations de publication
Date de publication:
25 Sep 2024
25 Sep 2024
Historique:
revised:
09
07
2024
received:
22
02
2024
accepted:
15
07
2024
medline:
25
9
2024
pubmed:
25
9
2024
entrez:
25
9
2024
Statut:
aheadofprint
Résumé
Genetic testing of patients with neurodevelopmental disabilities (NDDs) is critical for diagnosis, medical management, and access to precision therapies. Because genetic testing approaches evolve rapidly, professional society practice guidelines serve an essential role in guiding clinical care; however, several challenges exist regarding the creation and equitable implementation of these guidelines. In this scoping review, we assessed the current state of United States professional societies' guidelines pertaining to genetic testing for unexplained global developmental delay, intellectual disability, autism spectrum disorder, and cerebral palsy. We describe several identified shortcomings and argue the need for a unified, frequently updated, and easily-accessible cross-specialty society guideline. ANN NEUROL 2024.
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NIMH NIH HHS
ID : R01-HD108222
Pays : United States
Organisme : NIMH NIH HHS
ID : U01-DA055342
Pays : United States
Organisme : National Institute of Child Health and Human Development
ID : P50HD105351
Organisme : National Institute of Child Health and Human Development
ID : U54-HD104461
Organisme : HRSA HHS
ID : HRSA-22-134
Pays : United States
Organisme : NHGRI NIH HHS
ID : R00HG011491
Pays : United States
Organisme : NHGRI NIH HHS
ID : R21HG012626
Pays : United States
Organisme : NCATS NIH HHS
ID : U54NS092090
Pays : United States
Organisme : CDC HHS
ID : U01-CE003570
Pays : United States
Organisme : NINDS NIH HHS
ID : 1K23NS119666
Pays : United States
Organisme : NINDS NIH HHS
ID : 1U24NS131172-01
Pays : United States
Organisme : NINDS NIH HHS
ID : R01-NS117597
Pays : United States
Organisme : NICHD NIH HHS
ID : P50 HD103538
Pays : United States
Organisme : Eunice Kennedy Shriver National Institute of Child Health and Human Development
ID : R21HD101977
Informations de copyright
© 2024 The Author(s). Annals of Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.
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