Challenges of Implementation of the National Phenylketonuria Screening Program in Iran

A Qualitative Study

Authors

  • Mohammad Arab Professor, Health Services Management, Department of Management and Health Economic, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran

Keywords:

Challenges, Phenylketonuria, Screening, Iran

Abstract

Introduction: Newborn screening (NBS) is a public health measure aimed at identification of early cases, management of afflicted infants, and making efforts to reduce the morbidity and mortality among newborns. All countries may face challenges in implementation of screening programs. The present study aimed to determine the challenges of implementation of the National Phenylketonuria (PKU) Screening Program in Iran.

Methods: In this qualitative study, 38 health policymakers, managers, and PKU experts in Iran were purposively selected as the respondents in 2015. The semi-structured interview was used for collecting the required data and information. After transcription of interviews, their content was analyzed using framework analysis.

Results: The results were categorized into five main themes and 22 subthemes. The main themes extracted from data were management challenges, diagnosis challenges, treatment challenges, care challenges, and patients’ family problems. Each category consisted of several subthemes.

Conclusion: Considering the challenges of implementing this program, some measures such as increased stability of managers in the health system, greater interaction of the Ministry of Health and Medical Education with the heath stakeholders, improving the level of parents’ awareness, the use of efficient information systems, support and legal backing for requiring parents who refuse newborn screening for various reasons, and appropriate insurance coverage seem necessary to be taken.

References

Banta-Wright SA, Kodadek SM, Steiner RD, Houck GM. Challenges to breastfeeding infants with

phenylketonuria. J Pediatr Nurs. 2015; 30(1): 219-26. doi: 10.1016/j.pedn.2014.05.003. PMID: 24952998.

Soleymani Z, Keramati N, Rohani F, Jalaei S. Factors Influencing Verbal Intelligence and Spoken

Language in Children with Phenylketonuria. Indian Pediatr. 2015; 52(5): 397-401. doi: 10.1007/s13312- 015-0644-8. PMID: 26061925.

Mei L, Song P, Xu L. Newborn screening and related policy against Phenylketonuria in China. Intractable

Rare Dis Res. 2013; 2(3): 72-6. doi: 10.5582/irdr.2013.v2.3.72. PMID: 25343107, PMCID: PMC4204551.

Groselj U, Tansek MZ, Smon A, Angelkova N, Anton D, Baric I, et al. Newborn screening in southeastern

Europe. Mol Genet Metab. 2014; 113(1-2): 42-5. doi: 10.1016/j.ymgme.2014.07.020. PMID: 25174966.

Padilla CD, Krotoski D, Therrell BL Jr. Newborn screening progress in developing countries--overcoming

internal barriers. Semin Perinatol. 2010; 34(2): 145-55. doi: 10.1053/j.semperi.2009.12.007. PMID:

Groselj U, Tansek MZ, Battelino T. Fifty years of phenylketonuria newborn screening - A great success for

many, but what about the rest? Mol Genet Metab. 2014; 113(1-2): 8-10. doi:

1016/j.ymgme.2014.07.019. PMID: 25174964.

Karamifar H, Ordoei M, Karamizadeh Z, Amirhakimi GH. Incidence of neonatal hyperphenylalaninemia in

Fars province, South Iran. Iran J Pediatr. 2010; 20(2): 216-20. PMID: 23056707, PMCID: PMC3446017.

Asadollah H, Falahzadeh MH, Kazerouni HR, Ganj Karimi AH. Incidence of phenylketonuria in southern

Iran. Iran J Basic Med Sci. 2010; 35(2): 137-9.

Aghasi P, Setoodeh A, Sayarifard A, Rashidiyan M, Sayarifard F, Rabbani A, et al. Intellectual and

Developmental Status in Children With Hyperphenylalaninemia and PKU Who Were Screened in a

National Program. Iran J Pediatr. 2015; 25(6): 3033. doi: 10.5812/ijp.3033. PMID: 26635939, PMCID:

PMC4662839.

Elbualy M, Bold A, De Silva V, Gibbons U. Congenital hypothyroid screening: the Oman experience. J

Trop Pediatr. 1998; 44(2): 81-3. PMID: 9604594.

Dhondt JL, Farriaux JP, Sailly JC, Lebrun T. Economic evaluation of cost-benefit ratio of neonatal

screening procedure for phenylketonuria and hypothyroidism. J Inherit Metab Dis. 1991; 14(4): 633-9.

PMID: 1749228.

Ben Romdhane H, Tlili F, Skhiri A, Zaman S, Phillimore P. Health system challenges of NCDs in Tunisia.

Int J Public Health. 2015; 60(1): 39-46. doi: 10.1007/s00038-014-0616-0. PMID: 25399240.

Moshiri E. Using policy analysis methods and heuristic generalization approaches to provide a rich

understanding of the mismatch between development of the referral system and the development of the

PHC network in Iran's health care system: Identifying appropriate policy making theories [PhD Thesis]:

Tehran University of medical sciences. 2015; 242.

Ozalp I, Coşkun T, Tokatli A, Kalkanoglu HS, Dursun A, Tokol S, et al. Newborn PKU screening in

Turkey: at present and organization for future. Turk J Pediatr. 2000; 43(2): 97-101. PMID: 11432505.

Han YJ, Lee DH. Measures to Improve Newborn Screening System in Korea. Available from:

https://www.kihasa.re.kr/common/filedown.do?seq=33013

Rashidiyan A. Policy challenges and the need to create coherent structures to help the evidence base

decision making on health system. Hakim Res J. 2013; 16(3): 258-61.

Kalisch BJ, Lee H, Salas E. The development and testing of the nursing teamwork survey. Nurs Res. 2010;

(1): 42-50. doi: 10.1097/NNR.0b013e3181c3bd42. PMID: 20010044.

Salas E, Diaz Granados D, Weaver SJ, King H. Does team training work? Principles for health care. Acad

Emerg Med. 2008; 15(11): 1002-9. doi:10.1111/j.1553-2712.2008.00254. PMID: 18828828.

Chakraborti C, Boonyasai RT, Wright SM, Kern DE. A systematic review of teamwork training

interventions in medical student and resident education. J Gen Intern Med. 2008; 23(6): 846-53. doi:

1007/s11606-008-0600-6. PMID: 18386100, PMCID: PMC2517885.

Padilla CD, Therrell BL. Newborn screening in the Asia Pacific region. J Inherit Metab Dis. 2007; 30(4):

-506. doi: 10.1007/s10545-007-0687-7. PMID: 17643195.

Mei L, Song P, Xu L. Newborn screening and related policy against Phenylketonuria in China. Intractable

Rare Dis Res. 2013; 2(3): 72-6. doi: 10.5582/irdr.2013.v2.3.72. PMID: 25343107, PMCID: PMC4204551.

Borrajo GJ. Newborn screening in Latin America at the beginning of the 21st century. J Inherit Metab Dis.

; 30(4): 466-81. doi: 10.1007/s10545-007-0669-9. PMID: 17701285.

Han YJ, Lee DH, Kim JW. Newborn screening in Korea. Southeast Asian J Trop Med Public Health. 2003;

(3): 81-4. PMID: 15906703.

Aye R, Wyss K, Abdualimova H, Saidaliev S. Illness costs to households are a key barrier to access

diagnostic and treatment services for tuberculosis in Tajikistan. BMC Res Notes. 2010; 3(1): 340. doi:

1186/1756-0500-3-340. PMID: 21172015, PMCID: PMC3022814.

Van Doorslaer E, O'Donnell O, Rannan-Eliya RP, Somanathan A, Adhikari SR, Garg CC, et al. Effect of

payments for health care on poverty estimates in 11 countries in Asia: an analysis of household survey data.

Lancet. 2006; 368(9544): 1357-64. doi: 10.1016/S0140-6736(06)69560-3. PMID: 17046468.

Russell S. The economic burden of illness for households in developing countries: a review of studies

focusing on malaria, tuberculosis, and human immunodeficiency virus/acquired immunodeficiency

syndrome. Am J Trop Med Hyg. 2004; 71(2): 147-55. PMID: 15331831.

Kazemiyan M, Javadi Nasab H. Socio-economic Determinants of Health Expenditure for Low-income

Households in the Informal Sector. J Kerman Univ Med Sci. 2014; 21(2): 151-61.

Huang MC, Lee CK, Lin SJ, Lu IC. Parental consent for newborn screening in southern Taiwan. J Med

Ethics. 2005; 31(11): 621-4. doi: 10.1136/jme.2004.010074. PMID: 16269553, PMCID: PMC1734047.

Campbell E, Ross LF. Parental attitudes regarding newborn screening of PKU and DMD. Am J Med Genet

A. 2003; 120(2): 209-14. doi: 10.1002/ajmg.a.20031. PMID: 12833401.

Alberta Health and Wellness, Community and Population Health Division Alberta Newborn Metabolic

Screening Program Policy Document. 2010. Available from:

http://www.health.alberta.ca/documents/Newborn-Metabolic-Screening-Policy-2010.pdf

Negar M, Badiee Aval S, Hosseini Yazdi SMR, Norouzi F, Mina T. The Epidemiological and Clinical

Study of Phenylketonuria (PKU) Patients in Khorasan, North-eastern Iran. IJN. 2015; 6(1): 18-22.

Eshraghi P, Abaskhanian A, Mohammadhasani and A. Characteristics of patients with phenylketonuria in

Mazandaran Province, northern, Iran. Caspian J Intern Med. 2010; 1(2): 72-4.

Vela-Amieva M, Ibarra-González I, Fernández-Lainez C, Monroy-Santoyo S, Guillén-López S, Belmont- Martinez L, et al. Causes of delay in referral of patients with phenylketonuria to a specialized reference

center in Mexico. J Med Screen. 2011; 18(3): 115-20. doi: 10.1258/jms.2011.011028. PMID: 22045819.

Stranieri I, Takano OA. Evaluation of the Neonatal Screening Program for congenital hypothyroidism and

phenylketonuria in the State of Mato Grosso, Brazil. Arq Bras Endocrinol Metabol. 2009; 53(4): 446-52.

doi: 10.1258/jms.2011.011028. PMID: 19649383.

Adesa AE, Walkera J, Jonesb R, Smithc I. Coverage of neonatal screening: failure of coverage or failure of

information system. Arch Dis Child. 2001; 84(6): 476-9. doi:10.1136/adc.84.6.476.

Tomasi E, Facchini LA, Maia MF. Health information technology in primary health care in developing

countries: a literature review. Bull World Health Organ. 2004; 82(11): 867-74. PMID: 15640923, PMCID:

PMC2623061.

Mirkhalafzadeh M, Haddadpoor A, Mazroei F, Nasri M, Bahrami G. Designing and Developing a Software

for Hypothyroidism and Phenylketonuria Screening in Newborns. J Mazandaran Univ Med Sci. 2014;

(120): 148-9.

Published

2022-03-08