Cystic fibrosis newborn screening: A model for neuromuscular disease screening?

Annals of Neurology

Volumn 77, Issue 2, 2015, Pages 189-197

  Scully, Michele A ^a   Farrell, Philip M ^b   Ciafaloni, Emma ^a   Griggs, Robert C ^a   Kwon, Jennifer M ^a  

^a UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^b UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOSTEROID; CREATINE KINASE;

ARTICLE; BOY; CORTICOSTEROID THERAPY; CREATINE KINASE BLOOD LEVEL; CYSTIC FIBROSIS; DRIED BLOOD SPOT TESTING; DUCHENNE MUSCULAR DYSTROPHY; EARLY DIAGNOSIS; FOLLOW UP; GENETIC COUNSELING; GLYCOGEN STORAGE DISEASE TYPE 2; HEALTH CARE DISPARITY; HEALTH CARE FINANCING; HEALTH CARE QUALITY; HISTORY OF MEDICINE; HUMAN; INFANT; INFANT DISEASE; LABORATORY TEST; MALE; MEDICAL INFORMATICS; NEWBORN; NEWBORN SCREENING; OUTCOME ASSESSMENT; PRACTICE GUIDELINE; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY; TIME; NEUROMUSCULAR DISEASES; PROCEDURES; STANDARDS;

CYSTIC FIBROSIS; HEALTHCARE DISPARITIES; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; NEUROMUSCULAR DISEASES;

EID: 84922791808     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24316     Document Type: Article

References (64)

1. Wilson JM, Jungner YG. Principles and practice of mass screening for disease [in Spanish]. Bol Oficina Sanit Panam 1968;65:281-393.
2. Trotter TL, Fleischman AR, Howell RR, et al. Secretary's Advisory Committee on Heritable Disorders in Newborns and Children response to the President's Council on Bioethics report: the changing moral focus of newborn screening. Genet Med 2011;13:301-304.
3. Enns GM, Koch R, Brumm V, et al. Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence. Mol Genet Metab 2010;101:99-109.
4. Simopoulos AP. Genetic screening: programs, principles, and research - thirty years later. Reviewing the recommendations of the Committee for the Study of Inborn Errors of Metabolism (SIEM). Public Health Genomics 2009;12:105-111.
5. Chien YH, Hwu WL, Lee NC. Pompe disease: early diagnosis and early treatment make a difference. Pediatr Neonatol 2013;54:219-227.
6. Chien YH, Lee NC, Thurberg BL, et al. Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics 2009;124:e1116-e1125.
7. Kemper AR, Comeau AM, Green NS, et al. Evidence report: newborn screening for Pompe disease. 2013. http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/nominatecondition/reviews/pompereport2013.pdf; accessed 9/1/2014.
8. Mendell JR, Shilling C, Leslie ND, et al. Evidence-based path to newborn screening for Duchenne muscular dystrophy. Ann Neurol 2012;71:304-313.
9. Manzur AY, Kuntzer T, Pike M, Swan AV. Glucocorticoid corticosteroids for Duchenne muscular dystrophy. Cochrane Database Syst Rev 2008;(1):CD003725.
10. Moxley RT III, Ashwal S, Pandya S, et al. Practice parameter: corticosteroid treatment of Duchenne dystrophy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology 2005;64:13-20.
11. Fenichel GM, Florence JM, Pestronk A, et al. Long-term benefit from prednisone therapy in Duchenne muscular dystrophy. Neurology 1991;41:1874-1877.
12. Prior TW. Spinal muscular atrophy: a time for screening. Curr Opin Pediatr 2010;22:696-702.
13. Prior TW, Snyder PJ, Rink BD, et al. Newborn and carrier screening for spinal muscular atrophy. Am J Med Genet A 2010;152A:1608-1616.
14. Ellis JA, Vroom E, Muntoni F. 195th ENMC International Workshop: Newborn screening for Duchenne muscular dystrophy 14-16th December, 2012, Naarden, the Netherlands. Neuromuscul Disord 2013;23:682-689.
15. Kemper AR, Wake MA. Duchenne muscular dystrophy: issues in expanding newborn screening. Curr Opin Pediatr 2007;19:700-704.
16. Ross LF. Screening for conditions that do not meet the Wilson and Jungner criteria: the case of Duchenne muscular dystrophy. Am J Med Genet A 2006;140:914-922.
17. Ciafaloni E, Fox DJ, Pandya S, et al. Delayed diagnosis in Duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). J Pediatr 2009;155:380-385.
18. Grosse SD, Khoury MJ, Hannon WH, et al. Early diagnosis of cystic fibrosis. Pediatrics 2001;107:1492.
19. Wagener JS, Farrell PM, Corey M. A debate on why my state (province) should or should not conduct newborn screening for cystic fibrosis (14th annual North American Cystic Fibrosis Conference). Pediatr Pulmonol 2001;32:385-396.
20. Moat SJ, Bradley DM, Salmon R, et al. Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK). Eur J Hum Genet 2013;21:1049-1053.
21. Campbell E, Ross LF. Parental attitudes and beliefs regarding the genetic testing of children. Community Genet 2005;8:94-102.
22. Wood MF, Hughes SC, Hache LP, et al. Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy. Muscle Nerve 2014;49:822-828.
23. Drummond LM. Creatine phosphokinase levels in the newborn and their use in screening for Duchenne muscular dystrophy. Arch Dis Child 1979;54:362-366.
24. Moxley RT III, Pandya S, Ciafaloni E, et al. Change in natural history of Duchenne muscular dystrophy with long-term corticosteroid treatment: implications for management. J Child Neurol 2010;25:1116-1129.
25. Gregg RG, Wilfond BS, Farrell PM, et al. Application of DNA analysis in a population-screening program for neonatal diagnosis of cystic fibrosis (CF): comparison of screening protocols. Am J Hum Genet 1993;52:616-626.
26. Wells J, Rosenberg M, Hoffman G, et al. A decision-tree approach to cost comparison of newborn screening strategies for cystic fibrosis. Pediatrics 2012;129:e339-e347.
27. Connolly AM, Florence JM, Cradock MM, et al. Motor and cognitive assessment of infants and young boys with Duchenne muscular dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network. Neuromuscul Disord 2013;23:529-539.
28. Holtzer C, Meaney FJ, Andrews J, et al. Disparities in the diagnostic process of Duchenne and Becker muscular dystrophy. Genet Med 2011;13:942-947.
29. Scully MA, Cwik VA, Marshall BC, et al. Can outcomes in Duchenne muscular dystrophy be improved by public reporting of data? Neurology 2013;80:583-589.
30. Merlini L, Gennari M, Malaspina E, et al. Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients: 14-year follow-up. Muscle Nerve 2012;45:796-802.
31. Malik V, Rodino-Klapac LR, Mendell JR. Emerging drugs for Duchenne muscular dystrophy. Expert Opin Emerg Drugs 2012;17:261-277.
32. Finkel RS, Flanigan KM, Wong B, et al. Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy. PLoS One 2013;8:e81302.
33. Wang CH, Finkel RS, Bertini ES, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol 2007;22:1027-1049.
34. Zanetta C, Nizzardo M, Simone C, et al. Molecular therapeutic strategies for spinal muscular atrophies: current and future clinical trials. Clin Ther 2014;36:128-140.
35. Moskowitz SM, Chmiel JF, Sternen DL, et al. CFTR-related disorders. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews. Seattle, WA: University of Washington, 2001.
36. Huang NN, Schidlow DV, Szatrowski TH, et al. Clinical features, survival rate, and prognostic factors in young adults with cystic fibrosis. Am J Med 1987;82:871-879.
37. Schechter MS. Benchmarking to improve the quality of cystic fibrosis care. Curr Opin Pulm Med 2012;18:596-601.
38. Tuchman L, Schwartz M. Health outcomes associated with transition from pediatric to adult cystic fibrosis care. Pediatrics 2013;132:847-853.
39. Lai HC. Delayed diagnosis of US females with cystic fibrosis. Am J Epidemiol 2002;156:165-173.
40. Sanders DB, Li Z, Laxova A, et al. Risk factors for the progression of cystic fibrosis lung disease throughout childhood. Ann Am Thorac Soc 2014;11:63-72.
41. Sanders DB, Farrell PM. Transformative mutation specific pharmacotherapy for cystic fibrosis. BMJ 2012;344:e79.
42. Crossley JR, Elliott RB, Smith PA. Dried-blood spot screening for cystic fibrosis in the newborn. Lancet 1979;1:472-474.
43. Hammond KB, Abman SH, Sokol RJ, Accurso FJ. Efficacy of state-wide neonatal screening for cystic fibrosis by assay of trypsinogen concentrations. N Engl J Med 1991;325:769-774.
44. Taussig LM, Boat TF, Dayton D, et al. Neonatal screening for cystic fibrosis: position paper. Pediatrics 1983;72:741-745.
45. Fost N, Farrell PM. A prospective randomized trial of early diagnosis and treatment of cystic fibrosis: a unique ethical dilemma. Clin Res 1989;37:495-500.
46. Farrell PM, Kosorok MR, Rock MJ, et al. Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Pediatrics 2001;107:1-13.
47. Lai HJ, Shoff SM, Farrell PM; Wisconsin Cystic Fibrosis Neonatal Screening Group. Recovery of birth weight z score within 2 years of diagnosis is positively associated with pulmonary status at 6 years of age in children with cystic fibrosis. Pediatrics 2009;123:714-722.
48. Grosse SD, Boyle CA, Botkin JR, et al. Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR Recomm Rep 2004;53(RR-13):1-36.
49. Wagener JS, Zemanick ET, Sontag MK. Newborn screening for cystic fibrosis. Curr Opin Pediatr 2012;24:329-335.
50. Southern KW, Mérelle MME, Dankert-Roelse JE, Nagelkerke A. Newborn screening for cystic fibrosis. Cochrane Database Syst Rev 2009;(1):CD001402.
51. Dijk FN, Fitzgerald DA. The impact of newborn screening and earlier intervention on the clinical course of cystic fibrosis. Paediatr Respir Rev 2012;13:220-225.
52. Foundation CF, Borowitz D, Parad RB, et al. Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. J Pediatr 2009;155:S106-S116.
53. Earley MC, Laxova A, Farrell PM, et al. Implementation of the first worldwide quality assurance program for cystic fibrosis multiple mutation detection in population-based screening. Clin Chim Acta 2011;412:1376-1381.
54. Yankaskas JR, Marshall BC, Sufian B, et al. Cystic fibrosis adult care: consensus conference report. Chest 2004;125:1S-39S.
55. Farrell MH, Farrell PM. Newborn screening for cystic fibrosis: ensuring more good than harm. J Pediatr 2003;143:707-712.
56. Kharrazi M, Kharrazi LD. Delayed diagnosis of cystic fibrosis and the family perspective. J Pediatr 2005;147:S21-S25.
57. Sparbel KJH, Tluczek A. Patient and family issues regarding genetic testing for cystic fibrosis: a review of prenatal carrier testing and newborn screening. Annu Rev Nurs Res 2011;29:303-329.
58. Ciske DJ, Haavisto A, Laxova A, et al. Genetic counseling and neonatal screening for cystic fibrosis: an assessment of the communicaiton process. Pediatrics 2001;107:699-705.
59. Parsons EP, Bradley DM. Psychosocial issues in newborn screening for cystic fibrosis. Paediatr Respir Rev 2003;4:285-292.
60. Nshimyumukiza L, Bois A, Daigneault P, et al. Cost effectiveness of newborn screening for cystic fibrosis: a simulation study. J Cyst Fibros 2014;13:267-274.
61. Watson MS. Current status of newborn screening: decision-making about the conditions to include in screening programs. Ment Retard Dev Disabil Res Rev 2006;12:230-235.
62. Mendell JR, Lloyd-Puryear M. Report of MDA muscle disease symposium on newborn screening for Duchenne muscular dystrophy. Muscle Nerve 2013;48:21-26.
63. Sontag MK, Wright D, Beebe J, et al. A new cystic fibrosis newborn screening algorithm: IRT/IRT1"/DNA. J Pediatr 2009;155:618-622.
64. Swoboda KJ. Seize the day: newborn screening for SMA. Am J Med Genet A 2010;152A:1605-1607.