Expanding newborn screening for lysosomal disorders: Opportunities and challenges

Developmental Disabilities Research Reviews

Volumn 17, Issue 1, 2011, Pages 9-14

  Waggoner, Darrel J ^a   Tan, Christopher A ^a  

^a UNIVERSITY OF CHICAGO   (United States)

Author keywords

Genetics; Infant; Lysosomal storage disease; Newborn screening

Indexed keywords

ALPHA GALACTOSIDASE; ALPHA GLUCOSIDASE; GALACTOSYLCERAMIDASE; GLUCOSYLCERAMIDASE; IDURONATE 2 SULFATASE; LEVO IDURONIDASE; N ACETYLGALACTOSAMINE 4 SULFATASE; RECOMBINANT ENZYME;

ARTICLE; CELL DESTRUCTION; DIAGNOSTIC ACCURACY; DISABILITY; DISEASE SEVERITY; DRUG EFFICACY; ENZYME REPLACEMENT; FABRY DISEASE; FOLLOW UP; GAUCHER DISEASE; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; GLOBOID CELL LEUKODYSTROPHY; GLYCOGEN STORAGE DISEASE TYPE 2; HEALTH PROGRAM; HEALTH SERVICE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEREDITY; HISTOPATHOLOGY; HUMAN; HUNTER SYNDROME; HURLER SYNDROME; INCIDENCE; LONG TERM CARE; LYSOSOME; LYSOSOME STORAGE DISEASE; METACHROMATIC LEUKODYSTROPHY; MORTALITY; NEWBORN; NEWBORN SCREENING; NIEMANN PICK DISEASE; ONSET AGE; PATIENT COUNSELING; PRIORITY JOURNAL; PUBLIC HEALTH PROBLEM; RISK FACTOR; RISK REDUCTION; SCHEIE SYNDROME; SYMPTOM; TREATMENT OUTCOME;

HUMANS; INFANT, NEWBORN; LYSOSOMAL STORAGE DISEASES; NEONATAL SCREENING;

EID: 84868216415     PISSN: 19405510     EISSN: 19405529     Source Type: Journal    
DOI: 10.1002/ddrr.132     Document Type: Article

References (39)

1. Advisory Committee on Heritable Disorders in Newborns and Children. Available at: http://www.hrsa.gov/heritabledisorderscommittee/correspondence/feb2010letter.htm. Accessed July 2, 2011.
2. Advisory Committee on Heritable Disorders in Newborns and Children. Available at: http://www.hrsa.gov/heritabledisorderscommittee/meetings/2008october/minutesoct2008.htm. Accessed July 2, 2011.
3. Advisory Committee on Heritable Disorders in Newborns and Children. Available at: http://www.hrsa.gov/heritabledisorderscommittee/meetings/2009september/summary.htm. Accessed July 2, 2011.
4. American Academy of Pediatrics. 2000. Serving the family from birth to the medical home. Newborn screening: a blueprint for the future - a call for a national agenda on state newborn screening programs. Pediatrics 106 (2Pt 2):389-422.
5. American Academy of Pediatrics. 2006. Newborn screening: toward a uniform screening panel and system. Genet Med 8 Suppl 1:1S-252S.
6. Bailey DB Jr., Armstrong FD, Kemper AR, et al. 2009. Supporting family adaptation to presymptomatic and "untreatable"conditions in an era of expanded newborn screening. J Pediatr Psychol 34:648-661.
7. Bailey DB Jr, Skinner D, Davis AM, et al. 2008. Ethical, legal, and social concerns about expanded newborn screening: fragile X syndrome as a prototype for emerging issues. Pediatrics 121:e693-e704.
8. Bernhardt BA, Rushton CH, Carrese J, et al. 2009. Distress and burnout among genetic service providers. Genet Med 11:527-535.
9. Campbell E, Ross LF. 2003. Parental attitudes regarding newborn screening of PKU and DMD. Am J Med Genet A 120A:209-214.
10. Chien YH, Chiang SC, Zhang XK, et al. 2008. Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. Pediatrics 122:e39-e45.
11. Cooksey JA, Forte G, Flanagan PA, et al. 2006. The medical genetics workforce: an analysis of clinical geneticist subgroups. Genet Med 8:603-614.
12. Duffner PK, Caggana M, Orsini JJ, et al. 2009a. Newborn screening for Krabbe disease: the New York State model. Pediatr Neurol 40:245-252; discussion 253-245.
13. Duffner PK, Caviness VS Jr, Erbe RW, et al. 2009b. The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York. Genet Med 11:450-454.
14. Greendale K, Pyeritz RE. 2001. Empowering primary care health professionals in medical genetics: how soon? How fast? How far? Am J Med Genet 106:223-232.
15. Hayes IM, Collins V, Sahhar M, et al. 2007. Newborn screening for mucopolysaccharidoses: opinions of patients and their families. Clin Genet 71:446-450.
16. Hwu WL, Chien YH, Lee NC. 2010. Newborn screening for neuropathic lysosomal storage disorders. J Inherit Metab Dis 33:381-386.
17. Hwu WL, Chien YH, Lee NC, et al. 2009. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Hum Mutat 30:1397-1405.
18. James PM, Levy HL. 2006. The clinical aspects of newborn screening: importance of newborn screening follow-up. Ment Retard Dev Disabil Res Rev 12:246-254.
19. 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.
20. Kemper AR, Uren RL, Moseley KL, et al. 2006. Primary care physicians' attitudes regarding follow-up care for children with positive newborn screening results. Pediatrics 118: 1836-1841.
21. Kunk RM. 1998. Expanding the newborn screen: terrific or troubling? MCN Am J Matern Child Nurs 23:266-271.
22. Levy HL. 2010. Newborn screening conditions: What we know, what we do not know, and how we will know it. Genet Med 12(12 Suppl):S213-S214.
23. Marsden D, Levy H. 2010. Newborn screening of lysosomal storage disorders. Clin Chem 56:1071-1079.
24. Meikle PJ, Hopwood JJ, Clague AE, et al. 1999. Prevalence of lysosomal storage disorders. JAMA 281:249-254.
25. Parsons EP, Bradley DM. 2003. Psychosocial issues in newborn screening for cystic fibrosis. Paediatr Respir Rev 4:285-292.
26. Parsons EP, Clarke AJ, Hood K, et al. 2002. Newborn screening for Duchenne muscular dystrophy: a psychosocial study. Arch Dis Child Fetal Neonatal Ed 86:F91-F95.
27. Pass K, Green NS, Lorey F, et al. 2006. Pilot programs in newborn screening. Ment Retard Dev Disabil Res Rev 12:293-300.
28. Rhead WJ. 2006. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective. J Inherit Metab Dis 29(2-3):370-377.
29. Ross LF. 2006. Screening for conditions that do not meet the Wilson and Jungner criteria: the case of Duchenne muscular dystrophy. Am J Med Genet A 140:914-922.
30. Schaefer E, Mehta A, Gal A. 2005. Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey. Acta Paediatr Suppl 94:87-92; discussion 79.
31. Skinner D, Sparkman KL, Bailey DB Jr. 2003. Screening for Fragile X Syndrome: parent attitudes and perspectives. Genet Med 5:378-384.
32. Spada M, Pagliardini S, Yasuda M, et al. 2006. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet 79:31-40.
33. Tluczek A, Koscik RL, Farrell PM, et al. 2005. Psychosocial risk associated with newborn screening for cystic fibrosis: parents' experience while awaiting the sweat-test appointment. Pediatrics 115:1692-1703.
34. U.S. Department of Health and Human Services. 2004. HHS establishes new advisory committee on heritable disorders and genetic diseases in newborns and children. HRSA Newsbrief. Retrieved July 2, 2011, from http://newsroom.hrsa.gov/NewsBriefs/2004/genetics-feb.htm.
35. Wang RY, Bodamer OA, Watson MS, et al. 2011. Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals. Genet Med 13:457-484.
36. Wenger DA, Coppola S, Liu SL. 2003. Insights into the diagnosis and treatment of lysosomal storage diseases. Arch Neurol 60:322-328.
37. Wenger DA, Rafi MA, Luzi P, et al. 2000. Krabbe disease: genetic aspects and progress toward therapy. Mol Genet Metab 70:1-9.
38. Wilcox WR. 2004. Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care. J Pediatr 144(5 Suppl): S3-S14.
39. Wilson JM, Jungner YG. 1968. Principles and practice of mass screening for disease. Bol Oficina Sanit Panam 65:281-393.