Title

Weighing the evidence for newborn screening for early-infantile Krabbe disease

UMMS Affiliation

Department of Pediatrics; New England Newborn Screening Program

Publication Date

2010-09-06

Document Type

Article

Subjects

DNA Mutational Analysis; Humans; Infant, Newborn; Leukodystrophy, Globoid Cell; Neonatal Screening; New York; Risk; Risk Assessment; United States

Disciplines

Genetics and Genomics | Medical Genetics | Pediatrics

Abstract

PURPOSE: To summarize the evidence regarding screening, diagnosis, and treatment of early-infantile Krabbe disease in consideration of its addition to the core panel for newborn screening as has been done in New York state.

METHODS: Systematic review of articles indexed in MEDLINE and Embase published between January 1988 and July 2009. Thirteen articles describing studies related to screening, diagnosis, or treatment were included in this review.

RESULTS: Case series studies suggest that allogeneic hematopoietic stem-cell transplantation soon after the development of signs or symptoms of early-infantile Krabbe disease decreases early-childhood mortality and may improve neurodevelopment. However, limited data suggest there may be loss of motor function among some children who undergo transplantation. No long-term follow-up data are available from these case series. Of the approximately 550,000 newborns reported to have been screened in New York, 25 tested positive. None of these were clinically recognized to have Krabbe disease prior these results. Four were considered to be high risk for early-onset Krabbe disease. Two were subsequently diagnosed and underwent stem-cell transplantation, of whom one died from complications. No data are available regarding the impact on families of a positive newborn screen.

CONCLUSIONS: Although early treatment with hematopoietic stem-cell transplant seems to alter early-childhood mortality and some of the morbidity associated with early-infantile Krabbe disease, significant gaps in knowledge exist regarding the accuracy of screening, the strategy for establishing diagnosis, the affect of a positive screen on families, the benefits and harms of treatment, and long-term prognosis.

DOI of Published Version

10.1097/GIM.0b013e3181e85721

Source

Genet Med. 2010 Sep;12(9):539-43. Link to article on publisher's site

Journal/Book/Conference Title

Genetics in medicine : official journal of the American College of Medical Genetics

Related Resources

Link to Article in PubMed

PubMed ID

20601893

Link to Full Text

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