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Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease.

Publication ,  Journal Article
Thompson-Stone, R; Ream, MA; Gelb, M; Matern, D; Orsini, JJ; Levy, PA; Rubin, JP; Wenger, DA; Burton, BK; Escolar, ML; Kurtzberg, J
Published in: Mol Genet Metab
2021

OBJECTIVE: To provide updated evidence and consensus-based recommendations for the classification of individuals who screen positive for Krabbe Disease (KD) and recommendations for long-term follow-up for those who are at risk for late onset Krabbe Disease (LOKD). METHODS: KD experts (KD NBS Council) met between July 2017 and June 2020 to develop consensus-based classification and follow-up recommendations. The resulting newly proposed recommendations were assessed in a historical cohort of 47 newborns from New York State who were originally classified at moderate or high risk for LOKD. RESULTS: Infants identified by newborn screening with possible KD should enter one of three clinical follow-up pathways (Early infantile KD, at-risk for LOKD, or unaffected), based on galactocerebrosidase (GALC) activity, psychosine concentration, and GALC genotype. Patients considered at-risk for LOKD based on low GALC activity and an intermediate psychosine concentration are further split into a high-risk or low-risk follow-up pathway based on genotype. Review of the historical New York State cohort found that the updated follow-up recommendations would reduce follow up testing by 88%. CONCLUSION: The KD NBS Council has presented updated consensus recommendations for efficient and effective classification and follow-up of NBS positive patients with a focus on long-term follow-up of those at-risk for LOKD.

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Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

2021

Volume

134

Issue

1-2

Start / End Page

53 / 59

Location

United States

Related Subject Headings

  • Risk Factors
  • Practice Guidelines as Topic
  • Neonatal Screening
  • Leukodystrophy, Globoid Cell
  • Late Onset Disorders
  • Infant, Newborn
  • Infant
  • Humans
  • Genotype
  • Genetics & Heredity
 

Citation

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Thompson-Stone, R., Ream, M. A., Gelb, M., Matern, D., Orsini, J. J., Levy, P. A., … Kurtzberg, J. (2021). Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease. Mol Genet Metab, 134(1–2), 53–59. https://doi.org/10.1016/j.ymgme.2021.03.016
Thompson-Stone, Robert, Margie A. Ream, Michael Gelb, Dietrich Matern, Joseph J. Orsini, Paul A. Levy, Jennifer P. Rubin, et al. “Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease.Mol Genet Metab 134, no. 1–2 (2021): 53–59. https://doi.org/10.1016/j.ymgme.2021.03.016.
Thompson-Stone R, Ream MA, Gelb M, Matern D, Orsini JJ, Levy PA, et al. Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease. Mol Genet Metab. 2021;134(1–2):53–9.
Thompson-Stone, Robert, et al. “Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease.Mol Genet Metab, vol. 134, no. 1–2, 2021, pp. 53–59. Pubmed, doi:10.1016/j.ymgme.2021.03.016.
Thompson-Stone R, Ream MA, Gelb M, Matern D, Orsini JJ, Levy PA, Rubin JP, Wenger DA, Burton BK, Escolar ML, Kurtzberg J. Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease. Mol Genet Metab. 2021;134(1–2):53–59.
Journal cover image

Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

2021

Volume

134

Issue

1-2

Start / End Page

53 / 59

Location

United States

Related Subject Headings

  • Risk Factors
  • Practice Guidelines as Topic
  • Neonatal Screening
  • Leukodystrophy, Globoid Cell
  • Late Onset Disorders
  • Infant, Newborn
  • Infant
  • Humans
  • Genotype
  • Genetics & Heredity