Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State
| Autor: | Lissette Estrella, Patricia K. Duffner, Alejandro Iglesias, David A. Wenger, James M. Provenzale, Joseph J. Orsini, Jennifer M. Kwon, Denise M. Kay, Patricia Galvin-Parton, Georgianne L. Arnold, Joan E. Pellegrino, Maria L. Escolar, David Kronn, Michele Caggana, Joanne Kurtzberg, Richard W. Erbe, Alan M. Aron, Paul A. Levy, Mary R. Andriola, Thomas P. Naidich, Melissa P. Wasserstein, Thomas J. Langan |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty medicine.medical_treatment New York Disease Hematopoietic stem cell transplantation Asymptomatic 03 medical and health sciences Neonatal Screening 0302 clinical medicine Risk Factors medicine Humans Mass Screening Genetics (clinical) Mass screening Newborn screening business.industry Leukodystrophy Hematopoietic Stem Cell Transplantation Infant Newborn Infant medicine.disease Leukodystrophy Globoid Cell Medicolegal issues 030104 developmental biology Krabbe disease Female medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Genetics in Medicine. 18:1235-1243 |
| ISSN: | 1098-3600 |
| DOI: | 10.1038/gim.2016.35 |
| Popis: | Early infantile Krabbe disease is rapidly fatal, but hematopoietic stem cell transplantation (HSCT) may improve outcomes if performed soon after birth. New York State began screening all newborns for Krabbe disease in 2006. Infants with abnormal newborn screen results for Krabbe disease were referred to specialty-care centers. Newborns found to be at high risk for Krabbe disease underwent a neurodiagnostic battery to determine the need for emergent HSCT. Almost 2 million infants were screened. Five infants were diagnosed with early infantile Krabbe disease. Three died, two from HSCT-related complications and one from untreated disease. Two children who received HSCT have moderate to severe developmental delays. Forty-six currently asymptomatic children are considered to be at moderate or high risk for development of later-onset Krabbe disease. These results show significant HSCT-associated morbidity and mortality in early infantile Krabbe disease and raise questions about its efficacy when performed in newborns diagnosed through newborn screening. The unanticipated identification of “at risk” children introduces unique ethical and medicolegal issues. New York’s experience raises questions about the risks, benefits, and practicality of screening newborns for Krabbe disease. It is imperative that objective assessments be made on an ongoing basis as additional states begin screening for this disorder. Genet Med 18 12, 1235–1243. |
| Databáze: | OpenAIRE |
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