Developmental Outcomes in Duarte Galactosemia.


Journal

Pediatrics
ISSN: 1098-4275
Titre abrégé: Pediatrics
Pays: United States
ID NLM: 0376422

Informations de publication

Date de publication:
01 2019
Historique:
accepted: 26 09 2018
pubmed: 30 12 2018
medline: 18 10 2019
entrez: 30 12 2018
Statut: ppublish

Résumé

: media-1vid110.1542/5849572227001PEDS-VA_2018-2516 We recruited case patients from states where they were identified by NBS; unaffected siblings served as controls. Diet in infancy was ascertained by retrospective parent surveys; developmental outcomes were assessed in 5 domains, yielding 73 outcome measures for each child. We divided subjects randomly into independent discovery ( None of the 73 outcomes tested in the discovery set revealed significant association with DG, and none of the 10 outcomes tested in the validation set revealed either significant association with DG or significant association with milk exposure among children with DG. Through our results, we demonstrated that there were no significant differences in outcomes tested between case patients and controls or among case patients as a function of milk exposure in infancy. In this study, we provide a long-needed foundation of knowledge for health care providers, families, and NBS professionals seeking to make evidence-based decisions about DG.

Identifiants

pubmed: 30593450
pii: peds.2018-2516
doi: 10.1542/peds.2018-2516
pii:
doi:

Substances chimiques

Galactose X2RN3Q8DNE

Types de publication

Journal Article Multicenter Study Research Support, Non-U.S. Gov't Video-Audio Media

Langues

eng

Sous-ensembles de citation

IM

Commentaires et corrections

Type : CommentIn
Type : CommentIn
Type : CommentIn

Informations de copyright

Copyright © 2019 by the American Academy of Pediatrics.

Déclaration de conflit d'intérêts

POTENTIAL CONFLICT OF INTEREST: The authors have indicated they have no potential conflicts of interest to disclose.

Auteurs

Grace Carlock (G)

Departments of Human Genetics.

S Taylor Fischer (ST)

Departments of Human Genetics.

Mary Ellen Lynch (ME)

Psychiatry and Behavioral Sciences, and.

Nancy L Potter (NL)

Department of Speech and Hearing Sciences, Elson S. Floyd College of Medicine, Washington State University, Spokane, Washington; and.

Claire D Coles (CD)

Psychiatry and Behavioral Sciences, and.
Pediatrics, Emory School of Medicine, and.

Michael P Epstein (MP)

Departments of Human Genetics.

Jennifer G Mulle (JG)

Departments of Human Genetics.
Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, Georgia.

Julie A Kable (JA)

Psychiatry and Behavioral Sciences, and.
Pediatrics, Emory School of Medicine, and.

Catherine E Barrett (CE)

Psychiatry and Behavioral Sciences, and.

Shannan M Edwards (SM)

Psychiatry and Behavioral Sciences, and.

Elizabeth Wilson (E)

Speech Pathologist.

Judith L Fridovich-Keil (JL)

Departments of Human Genetics, jfridov@emory.edu.

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Classifications MeSH