Dangerous and expensive screening and treatment for rare childhood diseases: The case of Krabbe disease

Developmental Disabilities Research Reviews

Volumn 17, Issue 1, 2011, Pages 15-18

  Lantos, John D ^a,b  

^a UNIVERSITY OF MISSOURI KANSAS CITY SCHOOL OF MEDICINE   (United States)

^b CHILDREN S MERCY HOSPITAL   (United States)

Author keywords

Cost effectiveness; Ethics; Krabbe; Lysosomal storage disease; Newborn screening

Indexed keywords

GALACTOSYLCERAMIDASE;

ARTICLE; CHILDHOOD DISEASE; COST EFFECTIVENESS ANALYSIS; DNA DETERMINATION; ENZYME ACTIVITY; GLOBOID CELL LEUKODYSTROPHY; HEALTH CARE COST; HUMAN; IRRITABILITY; MUSCLE TONE; MYELIN SHEATH; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; QUALITY OF LIFE; RARE DISEASE; SEIZURE; SPASTICITY;

ATTITUDE TO HEALTH; COST-BENEFIT ANALYSIS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; INFANT, NEWBORN; LEUKODYSTROPHY, GLOBOID CELL; NEONATAL SCREENING; NEW YORK; PARENTS; PROGRAM EVALUATION; RARE DISEASES;

EID: 84868246387     PISSN: 19405510     EISSN: 19405529     Source Type: Journal    
DOI: 10.1002/ddrr.133     Document Type: Article

References (18)

1. Alexander D, Van Dyck PC. 2006. A vision of the future of newborn screening. Pediatrics 117: S350-S354.
2. Botkin JR, Clayton EW, Fost NC, et al. 2006. Newborn screening technology: proceed with caution. Pediatrics 117:1793-1799.
3. Camus A. 1948. The plague. New York: Modern Library.
4. Duffner PK, Caggana M, Orsini JJ, et al. 2009. Newborn screening for Krabbe disease: the New York state model. Pediatr Neurol 40: 245-252.
5. Escolar ML, Poe MD, Provenzale JM, et al. 2005. Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. New Engl J Med 352:2069-2081.
6. Feuchtbaum L, Cunningham G. 2006. Economic evaluation of tandem mass spectrometry screening in California. Pediatrics 117:S280-S286.
7. Friedman R. 2008. Newborn screening for Krabbe disease: a grand experiment changes lives, but cries for oversight. Neurol Today, 8:4-5.
8. Giugliani R. 2010. Inborn errors of metabolism in Latin America: challenges and opportunities. J Inherit Metab Dis 33(SUPPL 2):S315-S320.
9. Grosse SD, Rogowski WH, Ross LF, et al. 2009. Population screening for genetic disorders in the 21st century: evidence, economics, and ethics. Public Health Genom 13:106-115.
10. Haas M, Chaplin M, Joy P, et al. 2007. Healthcare use and costs of medium-chain acyl-coa dehydrogenase deficiency in Australia: screening versus no screening. J Pediatr 151:121-126.e1.
11. Kemper AR, Knapp AA, Green NS, et al. 2010. Weighing the evidence for newborn screening for early-infantile Krabbe disease. Genet Med 12:539-543.
12. Nakamura K, Hattori K, Endo F. 2011. Newborn screening for lysosomal storage disorders. Am J Med Genet C: Semin Med Genet 157:63-71.
13. Salveson R. 2011. Expansion of the New York state newborn screening panel and Krabbe disease: a systematic program evaluation (Unpublished DNSc). New York: Columbia University.
14. Schulze A, Lindner M, Kohlmüller D, et al. 2003. Expanded newborn screening for inborn errors of metabolism by electrospray ionizationtandem mass spectrometry: results, outcome, and implications. Pediatrics 111:1399-1406.
15. Therrell BL, Adams J. 2007. Newborn screening in North America. J Inherit Metab Dis 30: 447-465.
16. van der Hilst CS, Derks TG, Reijngoud DJ, et al. 2007. Cost-effectiveness of neonatal screening for medium chain acyl-CoA dehydrogenase deficiency: the homogeneous population of The Netherlands. J Pediatr 151:115-120.e3.
17. Wilson JM, Jungner YG. 1968. Principles and practice of screening for disease. World Health Organization: Geneva. Available from:http://www.who.int/bulletin/volumes/ 86/4/07-050112BP.pdf. Accessed on Feb 6, 2011.
18. Woods WG, Gao RN, Shuster JJ, et al. 2002. Screening of infants and mortality due to neuroblastoma. New Engl J Med 346:1041-1046.