Newborn screening 50 years later: Access issues faced by adults with PKU

Genetics in Medicine

Volumn 15, Issue 8, 2013, Pages 591-599

  Berry, Susan A ^a   Brown, Christine ^b   Grant, Mitzie ^c   Greene, Carol L ^d   Jurecki, Elaina ^e   Koch, Jean ^f   Moseley, Kathryn ^g   Suter, Ruth ^e   Van Calcar, Sandra C ^h   Wiles, Judy ⁱ   Cederbaum, Stephen ^j  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^b National PKU Alliance   (United States)

^c DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^e BIOMARIN PHARMACEUTICAL INC   (United States)

^f University of Southern California Keck School of Medicine ^*

^g UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

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

ⁱ Facet Communications Inc   (Canada)

^j UNIVERSITY OF CALIFORNIA   (United States)

more..

Author keywords

Access; Newborn screening; Phenylketonuria; PKU; Treatment

Indexed keywords

SAPROPTERIN;

EXECUTIVE FUNCTION; HEALTH CARE ACCESS; HUMAN; INTELLIGENCE; INTELLIGENCE QUOTIENT; NEWBORN SCREENING; PHENYLKETONURIA; PRACTICE GUIDELINE; PREVALENCE; REVIEW; SOCIAL ASPECT; SOCIOECONOMICS; TREATMENT OUTCOME;

ADULT; COHORT STUDIES; GENETIC TESTING; HEALTH SERVICES ACCESSIBILITY; HUMANS; INFANT, NEWBORN; LONG-TERM CARE; NEONATAL SCREENING; PHENYLALANINE; PHENYLKETONURIAS; SOCIOECONOMIC FACTORS; TREATMENT OUTCOME; UNITED STATES;

EID: 84881349966     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2013.10     Document Type: Review

References (99)

1. Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963;32: 338-343.
2. Folling A. The excretion of phenylpyruvic acid in the urine, an anomaly of metabolism in connection with imbecility. Zeitschrift fur PhysiologischeChemie 1934;227: 169-176.
3. Scriver CR, Levy H, Donlon J. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A (eds). The online metabolic and molecular bases of inherited disease. 2008. http://www.ommbid.com.
4. Koch R, Dobson JC. Hospital screening programs aid identification of PKU. Hosp Top 1968;46: 111-113.
5. Hansen H, Shahidi A, Stein ZA. Screening for phenylketonuria in New York City. Threshold values reconsidered. Public Health Rep 1978;93: 246-251. (Pubitemid 8346513)
6. Hanley WB, Linsao L, Davidson W, Moes CA. Malnutrition with early treatment of phenylketonuria. Pediatr Res 1970;4: 318-327.
7. Blaskovics ME, Nelson TL. Phenylketonuria and its variations. A review of recent developments. Calif Med 1971;115: 42-57.
8. Berman JL, Cunningham GC, Day RW, Ford R, Hsia DY. Causes for high phenylalanine with normal tyrosine in newborn screening programs. Am J Dis Child 1969;117: 54-65.
9. Peterson RM, Koch R, Schaeffler GE, Wohlers A, Acosta PB, Boyle D. Phenylketonuria. Experience at one center in the first year of screening in California. Calif Med 1968;108: 350-354.
10. Fisch RO, Torres F, Gravem HJ, Greenwood CS, Anderson JA. Twelve years of clinical experience with phenylketonuria. A statistical evaluation of symptoms, growth, mental development, electroencephalographic records, serum phenylalanine levels, and results of dietary management. Neurology 1969;19: 659-666.
11. Koff E, Kammerer B, Boyle P, Pueschel SM. Intelligence and phenylketonuria: effects of diet termination. J Pediatr 1979;94: 534-537. (Pubitemid 9125340)
12. Murphy D. Termination of dietary treatment of phenylketonuria. Ir J Med Sci 1969;8: 177-183.
13. Clayton BE, Moncrieff AA, Pampiglione G, Shepherd J. Biochemical and EEG studies in phenylketonuric children during phenylalanine tolerance testc. Arch Dis Child 1966;41: 267-272.
14. McBean MS, Stephenson JB. Treatment of classical phenylketonuria. Arch Dis Child 1968;43: 1-7.
15. Moseley KM, Skrabal J, Yano S, Koch R. Sapropterin dihydrochloride (6RBH4) and maternal phenylketonuria two case studies. Infan Child Adoles Nutr 2009;5: 262-266.
16. Lenke RR, Levy HL. Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies. N Engl J Med 1980;303: 1202-1208. (Pubitemid 11207585)
17. Dobson J, Koch R, Meyers C, Spector R, Williamson, M. The relationship between cognitive development and dietary treatment in phenylketonuric children. Presented at the Conference of American Association of Mental Deficiency. May 1967.
18. Cabalska B, Duczynska N, Borzymowska J, Zorska K, Koslacz-Folga A, Bozkowa K. Termination of dietary treatment in phenylketonuria. Eur J Pediatr 1977;126: 253-262. (Pubitemid 8215283)
19. Smith I, Lobascher ME, Stevenson JE, et al. Effect of stopping low-phenylalanine diet on intellectual progress of children with phenylketonuria. Br Med J 1978;2: 723-726. (Pubitemid 9007498)
20. Schuett VE, Gurda RF, Brown ES. Diet discontinuation policies and practices of PKU clinics in the United States. Am J Public Health 1980;70: 498-503. (Pubitemid 10098091)
21. Azen CG, Koch R, Friedman EG, et al. Intellectual development in 12-year-old children treated for phenylketonuria. Am J Dis Child 1991;145: 35-39.
22. Koch R, Burton B, Hoganson G, et al. Phenylketonuria in adulthood: a collaborative study. J Inherit Metab Dis 2002;25: 333-346.
23. National Institutes of Health Consensus Development Panel. National Institutes of Health Consensus Development Conference Statement. Phenylketonuria (PKU): acreening and management, October 16-18, 2000. Pediatr 2001;108: 972-982.
24. Enns GM, Koch R, Brumm V, Blakely E, Suter R, Jurecki E. Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence. Mol Genet Metab 2010;101: 99-109.
25. Agency for Healthcare Research and Quality (AHRQ). Adjuvant Treatment for Phenylketonuria (PKU). Comparative Effectiveness Review 56. http:// effectivehealthcare.ahrq.gov/ehc/products/259/957/executivesummary- CER56-PKU.pdf. Accessed 12 September 2012.
26. Hertzberg VS, Hinton CF, Therrell BL, Shapira SK. Birth prevalence rates of newborn screening disorders in relation to screening practices in the United States. J Pediatr 2011;159: 555-560.
27. Burton BK, Leviton L. Reaching out to the lost generation of adults with earlytreated phenylketonuria (PKU). Mol Genet Metab 2010;101: 146-148.
28. Pitt DB, Danks DM. The natural history of untreated phenylketonuria over 20 years. J Paediatr Child Health 1991;27: 189-190.
29. Bilginsoy C, Waitzman N, Leonard CO, Ernst SL. Living with phenylketonuria: perspectives of patients and their families. J Inherit Metab Dis 2005;28: 639-649. (Pubitemid 41349250)
30. National PKU Alliance. http://www.npkua.org/index.php/clinics. Accessed 7 August 2012.
31. The Alaska State Legislature. http://w3.legis.state.ak.us/index.php. Accessed 10 February 2012.
32. onecle. http://law.onecle.com/arizona/insurance/20-2326.html. Accessed 10 February 2012.
33. Arkansas State Insurance. http://www.insurance.arkansas.gov/PandC/ Insurance%20Code%20&%20related%20chapters/Chapter79.htm. Accessed 10 February 2012.
34. onecle. http://law.onecle.com/california/insurance/10123.89.html. Accessed 10 February 2012.
35. LexisNexis. http://www.lexisnexis.com/hottopics/Colorado/. Accessed 6 January 2012.
36. State of Connecticut General Assembly. http://search.cga.state.ct.us/adv/ . Accessed 10 February 2012.
37. Find Law. http://codes.lp.findlaw.com/decode/18/33/3355. Accessed 6 January 2012.
38. District of Columbia Official Code. http://weblinks.westlaw.com/find/ default. wl?cite=N5F33100095-DB11DB9BCF9-DAC28345A2A&sr=TC&pbc=DA0101 92&rs=WEBL13.01&rp=%2ffind%2fdefault.wl&spa=DCC-1000&fn= -top&fin dtype=VQ&vr=2.0&db=1000869. Accessed 22 February 2013.
39. The Florida Senate. http://www.flsenate.gov/Laws/Statutes/2011/627.42395. Accessed 6 January 2012.
40. Hawaii State Legislature. http://www.capitol.hawaii.gov/hrscurrent/Vol09- Ch0431-0435E/HRS0431/HRS-0431-.htm. 22 February 2013.
41. IDAPA 16.02.26. Rules Governing the Idaho Children's Special Health Program.
42. Leagle. http://www.leagle.com/statutes.aspx?page=5&xmldoc=ILST 08292011081.xml&docbase=Statutes&SizeDisp=7. Accessed 6 January 2012.
43. Indiana State Legislative Agency. http://www.in.gov/legislative/ic/code/ title27/ ar8/ch24.1.html. Accessed 6 January 2012.
44. Kansas Statutes. http://kansasstatutes.lesterama.org/Chapter-65/ Article-1/65-180.html. Accessed 6 January 2012.
45. Kentucky Legislature. http://www.lrc.ky.gov/kar/902/004/035.htm. Accessed 6 January 2012.
46. Louisiana State Legislature. http://legis.la.gov/lss/lss.asp?doc=506420. Accessed 6 January 2012.
47. Maine Revised Legislature. http://www.mainelegislature.org/legis/ statutes/24-a/ title24-Asec2745-D.html. Accessed 6 January 2012.
48. Find Legal Information. http://www.find-laws.com/statutes/maryland/ healthgeneral/ title-19/subtitle-7/19-705-5. Accessed 6 January 2012.
49. Commonwealth of Massachusetts. http://www.malegislature.gov/Laws/ GeneralLaws/PartI/TitleXXII/Chapter176b/Section4k. Accessed 6 January 2012.
50. Minnesota Office of the Revisor of Statutes. https://www.revisor.leg. state. mn.us/statutes/?id=256B.0625&year=2011. Accessed 6 January 2012.
51. Missouri Revised Statutes. http://www.moga.mo.gov/statutes/C300- 399/3760001219.HTM. Accessed 6 January 2012.
52. Montana Code Annotated 2011. http://data.opi.mt.gov/bills/mca/33/22/33- 22- 131.htm. Accessed 6 January 2012.
53. Law Server. http://www.lawserver.com/law/state/nebraska/ne-statutes/ nebraska-statutes-71-520. Accessed 6 January 2012.
54. Nevada Legislature. http://www.leg.state.nv.us/nrs/NRS-689A. html#NRS689ASec0423. Accessed 6 January 2012.
55. Justia US Law. http://law.justia.com/codes/new-hampshire/2010/ titlexxxvii/ chapter420-a/section420-a-17/. Accessed 6 January 2012.
56. onecle. http://law.onecle.com/new-jersey/17-corporations-and- institutions-forfinance- and-insurance/48a-7q.htm. Accessed 12 September 2012.
57. New Mexico Compilation Commission. http://www.nmonesource.com/ nmnxtadmin/. Accessed 10 October 2012.
58. New York Legislator. http://public.leginfo.state.ny.us/menuf.cgi. Accessed 12 September 2012.
59. onecle. http://law.onecle.com/north-carolina/130a-public-health/130a-125. html. Accessed 6 January 2012.
60. North Dakota Legislative Branch. http://www.legis.nd.gov/cencode/t25c17. pdf. Accessed 15 October 2012.
61. State of Oklahoma. http://webserver1.lsb.state.ok.us/2003-04HB/HCR1044- int.rtf. Accessed 15 October 2012.
62. Oregon Laws. http://www.oregonlaws.org/ors/743A.188. Accessed 6 January 2012.
63. http://weblinks.westlaw.com/find/default.wl?cite=N901E570034- 2611DA8A989-F4EECDB8638&sr=TC&pbc=DA010192&rs=WEBL13.01& rp=%2ffind%2fdefault.wl&spa=PAC-1000&fn=-top&findtype=VQ&vr=2. 0& db=1000262. Accessed 22 February 2013.
64. State of Rhode Island General Assembly. http://webserver.rilin.state.ri. us/ Statutes/. Accessed 15 October 2012.
65. South Dakota Legislature. http://legis.state.sd.us/statutes/ DisplayStatute.aspx? Type=Statute&Statute=58-38-23. Accessed 6 January 2012.
66. Find Legal Information. http://www.find-laws.com/statutes/tennessee/ title-56/ chapter-7/part-25/56-7-2505. Accessed 6 January 2012.
67. FindLaw. http://codes.lp.findlaw.com/txstatutes/IN/8/E/1359/1359.003. Accessed 6 January 2012.
68. Utah State Legislature. http://le.utah.gov/~code/TITLE31A/htm/31A22- 062300. htm. Accessed 6 January 2012.
69. Vermont Statutes Online. http://www.leg.state.vt.us/statutes/fullsection. cfm?T itle=08&Chapter=107&Section=04089e. Accessed 6 January 2012.
70. Washington State Legislature. http://apps.leg.wa.gov/rcw/default. aspx?cite=48.20.520. Accessed 6 January 2012.
71. State of Wisconsin. http://docs.legis.wisconsin.gov/statutes/statutes/ 253.pdf. Accessed 15 October 2012.
72. Koch R, Trefz F, Waisbren S. Psychosocial issues and outcomes in maternal PKU. Mol Genet Metab 2010;99(suppl 1):S68-S74.
73. Brumm VL, Azen C, Moats RA, et al. Neuropsychological outcome of subjects participating in the PKU adult collaborative study: a preliminary review. J Inherit Metab Dis 2004;27: 549-566. (Pubitemid 39295097)
74. Barron J, Wahl P, Fisher M, Plauschinat C. Effect of prescription copayments on adherence and treatment failure with oral antidiabetic medications. P T 2008;33: 532-553.
75. Cramer JA, Roy A, Burrell A, et al. Medication compliance and persistence: terminology and definitions. Value Health 2008;11: 44-47. (Pubitemid 351160875)
76. Camp KM, Lloyd-Puryear MA, Huntington KL. Nutritional treatment for inborn errors of metabolism: indications, regulations, and availability of medical foods and dietary supplements using phenylketonuria as an example. Mol Genet Metab 2012;107: 3-9.
77. Albrecht J, Garbade SF, Burgard P. Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: a meta-analysis. Neurosci Biobehav Rev 2009;33: 414-421.
78. Huijbregts SC, de Sonneville LM, Licht R, van Spronsen FJ,Verkerk PH, Sergeant JA. Sustained attention and inhibition of cognitive interference in treated phenylketonuria: associations with concurrent and lifetime phenylalanine concentrations. Neuropsychologia 2002;40: 7-15. (Pubitemid 32929971)
79. Channon S, Mockler C, Lee P. Executive functioning and speed of processing in phenylketonuria. Neuropsychology 2005;19: 679-686. (Pubitemid 41429115)
80. Christ SE, Steiner RD, Grange DK, Abrams RA, White DA. Inhibitory control in children with phenylketonuria. Dev Neuropsychol 2006;30: 845-864. (Pubitemid 44846217)
81. Brumm VL, Bilder D, Waisbren SE. Psychiatric symptoms and disorders in phenylketonuria. Mol Genet Metab 2010;99(suppl 1):S59-S63.
82. Waisbren SE, Noel K, Fahrbach K, et al. Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis. Mol Genet Metab 2007;92: 63-70. (Pubitemid 47361886)
83. Vernon HJ, Koerner CB, Johnson MR, Bergner A, Hamosh A. Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria. Mol Genet Metab 2010;100: 229-233.
84. Cotugno G, Nicolò R, Cappelletti S, Goffredo BM, Dionisi Vici C, Di Ciommo V. Adherence to diet and quality of life in patients with phenylketonuria. Acta Paediatr 2011;100: 1144-1149.
85. Stockler S, Moeslinger D, Herle M, Wimmer B, Ipsiroglu OS. Cultural aspects in the management of inborn errors of metabolism. J Inherit Metab Dis 2012. doi:10.1007/s10545-012-9455-4
86. Feillet F, MacDonald A, Hartung Perron D, Burton B. Outcomes beyond phenylalanine: an international perspective. Mol Genet Metab 2010;99 (suppl 1):S79-S85.
87. World Health Organization (WHO). Adherence to long-term therapies: evidence for action. http://whqlibdoc.who.int/publications/2003/9241545992.pdf. Accessed 12 September 2012.
88. Imperiale M, Suter R, Jurecki E, Schelling C, Turbeville S. Factors which may lead to inappropriate discontinuation of Kuvan® after at least 3 months of continued therapy. Presented in 2009 at the annual International Congress of Inborn Errors of Metabolism. San Diego, CA, USA, 29 August 2009- 2 September 2009.
89. Olsson GM, Montgomery SM, Alm J. Family conditions and dietary control in phenylketonuria. J Inherit Metab Dis 2007;30: 708-715. (Pubitemid 47559883)
90. Fehrenback AM, Peterson J. Parental problem-solving skills, stress, and dietary compliance in phenylketonuria. J Consult Clin Psychol 1989;57: 237-241.
91. Scal P, Evans T, Blozis S, Okinow N, Blum R. Trends in transition from pediatric to adult health care services for young adults with chronic conditions. J Adolesc Health 1999;24: 259-264. (Pubitemid 29191722)
92. Mütze U, Roth A, Weigel JF, et al. Transition of young adults with phenylketonuria from pediatric to adult care. J Inherit Metab Dis 2011;34: 701-709.
93. MacDonald A, Gokmen-Ozel H, van Rijn M, Burgard P. The reality of dietary compliance in the management of phenylketonuria. J Inherit Metab Dis 2010;33: 665-670.
94. Ozel HG, Kucukkasap T, Koksal G, et al. Does maternal knowledge impact blood phenylalanine concentration in Turkish children with phenylketonuria? J Inherit Metab Dis 2008;31(suppl 2):S213-S217.
95. van Dyck PC, Kogan MD, McPherson MG, Weissman GR, Newacheck PW. Prevalence and characteristics of children with special health care needs. Arch PediatrAdolesc Med 2004;158: 884-890. (Pubitemid 39181090)
96. Kemper AR, Brewer CA, Singh RH. Perspectives on dietary adherence among women with inborn errors of metabolism. J Am Diet Assoc 2010;110: 247-252.
97. American Academy of Pediatrics; American Academy of Family Physicians; American College of Physicians; Transitions Clinical Report Authoring Group; Cooley WC, Sagerman PJ. Supporting the health care transition from adolescence to adulthood in the medical home. Pediatr 2011;128: 182-200.
98. Tiv M, Viel JF, Mauny F, et al. Medication adherence in type 2 diabetes: the ENTRED study 2007, a French Population-Based Study. PLoS ONE 2012;7:e32412.
99. American College of Medical Genetics as commissioned by the Health Resources and Services Administration (HRSA). Newborn screening: towards a uniform screening panel and system. Genetic Med 2006;8(suppl 5):S12-S252.