Newborn screening for Krabbe disease: the New York State model
| Autor: | Darius J. Adams, Emma Ciafaloni, David A. Wenger, Joseph J. Orsini, Jill Miller-Horn, David Kronn, Stanley J. Rothman, Marc C. Patterson, Joanne Kurtzberg, Mary R. Andriola, Patricia Galvin-Parton, Maria L. Escolar, Laura Helton, James M. Provenzale, Alexandra Djukic, Michele Caggana, Jennifer M. Kwon, Paul A. Levy, Georgianne L. Arnold, Patricia K. Duffner, Barry E. Kosofsky, Melissa P. Wasserstein, Joan E. Pellegrino, Richard W. Erbe, Carl J. Crosley, Edwin H. Kolodny, Thomas P. Naidich, Alan M. Aron |
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| Rok vydání: | 2008 |
| Předmět: |
Gerontology
Pediatrics medicine.medical_specialty medicine.medical_treatment DNA Mutational Analysis Neural Conduction New York Disease Hematopoietic stem cell transplantation Risk Assessment Degenerative disease Neonatal Screening Developmental Neuroscience Galactosylceramidase medicine Evoked Potentials Auditory Brain Stem Humans Sphingolipidosis Referral and Consultation Neurologic Examination Newborn screening business.industry Hematopoietic Stem Cell Transplantation Infant Newborn medicine.disease Magnetic Resonance Imaging Leukodystrophy Globoid Cell Transplantation Treatment Outcome Neurology Models Organizational Pediatrics Perinatology and Child Health Krabbe disease Evoked Potentials Visual Neurology (clinical) business Follow-Up Studies |
| Zdroj: | Pediatric neurology. 40(4) |
| ISSN: | 0887-8994 |
| Popis: | Krabbe disease is a rare inherited neurologic disorder affecting the central and peripheral nervous systems. The disease has four phenotypes: early infantile, later onset, adolescent, and adult. The only known treatment is hematopoietic stem cell transplantation, which is, in the early infantile form of the disease, most beneficial if performed before onset of clinical symptoms. In August 2006, New York State began screening all newborns for Krabbe disease. A rapid and accurate technique for assessing galactocerebrosidase activity and performing DNA mutation analysis had been developed. Interpreting these results was limited, however, because neither enzyme activity nor genetic mutation reliably predicts phenotype. A series of initiatives were therefore developed by a multidisciplinary group of neurologists, geneticists, metabolic pediatricians, neurodevelopmental pediatricians, and transplant physicians (the Krabbe Consortium of New York State) to enhance the effectiveness of the newborn screening program. A standardized clinical evaluation protocol was designed based on the available literature, criteria for transplantation for the early infantile phenotype were formulated, a clinical database and registry was developed, and a study of developmental and functional outcomes was instituted. This multidisciplinary standardized approach to evaluating infants who have positive results on newborn screening may serve as a model for other states as they begin the process of screening for Krabbe disease and other lysosomal storage disorders. |
| Databáze: | OpenAIRE |
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