Professional activity, gender and disease-related emotions: The impact on parents' experiences in caring for children with phenylketonuria
Abstract
Introduction: Clinical management of rare diseases often fails to acknowledge the challenges faced by caregivers.
Whilst management of phenylketonuria (PKU) may not be considered as dire as other conditions, most studies
primarily concentrate on clinical issues, dietary adherence, or the quality of life of the PKU patients, leaving
caregivers in the background. The aim of the study was to evaluate the psychosocial effects of PKU on family
caregivers.
Methods: Between October 30th, 2022 and February 28th, 2023, we collected data from caregivers of children
with PKU using an anonymous, self-administered, computer-assisted online questionnaire. The survey was
distributed among to patients during their regular visits to five Polish PKU treatment centers.
Results: A total of 159 Polish caregivers of children with PKU completed the survey. This research shows that
while women caregivers were more likely to be unemployed due to their responsibilities for childcare (50.3%
compared to 0% for men), and men caregivers were more likely to be employed full-time (93.8% compared to
40.6% for women), the former reported higher emotional engagement in caregiving (88.1% vs 56.3% respectively).
Significantly, unemployed mothers reported higher levels of loneliness, helplessness, and emotional
control problems, and lacked psychological/emotional support more often than employed mothers. This research
also shows a statistically significant positive correlation between mothers' education level and financial situation
(p < 0.05) and education level and professional activity (p < 0.01). Additionally, a significant positive correlation
was found between perceived financial situation and feeling of happiness (p < 0.001), and between financial
situation and professional activity (p < 0.001). Finally, a significant positive correlation was observed between
feeling of happiness and professional activity (p < 0.05).
Conclusions: According to our findings, there is a link between subjective happiness, financial situation, and
professional activity among female caregivers. The relationship between these factors goes beyond just the income
earned from work. The results of our study imply that there could even be a therapeutic advantage for
working mothers. It is crucial to recognize the emotional difficulties that employed mothers may experience
while taking care of a child with PKU, and to provide them with the necessary assistance and resources to meet
their needs. Additionally, our results may provide a foundation for redefining the support system for caregivers in
Poland.
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Molecular Genetics and Metabolism Reports
no. 36,
ISSN: 2214-4269 - Publication year:
- 2023
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- Digital Object Identifier (open in new tab) https://doi.org/10.1016/j.ymgmr.2023.100992
- Bibliography: test
-
- C.R. Scriver, The PAH gene, phenylketonuria, and a paradigm shift, Hum. Mutat. 28 (2007) 831-845, https://doi.org/10.1002/humu.20526. open in new tab
- M.I. Flydal, A. Martinez, Phenylalanine hydroxylase: function, structure, and regulation, IUBMB Life 65 (2013) 341-349, https://doi.org/10.1002/iub.1150. open in new tab
- BIOPKU :: International Database of Patients and Mutations causing BH4- responsive HPA/PKU, (n.d.). http://www.biopku.org/home/pah.asp (accessed July 9, 2023). open in new tab
- A. Hillert, Y. Anikster, A. Belanger-Quintana, A. Burlina, B.K. Burton, C. Carducci, A.E. Chiesa, J. Christodoulou, M. Đorđević, L.R. Desviat, A. Eliyahu, R.A.F. Evers, open in new tab
- L. Fajkusova, F. Feillet, P.E. Bonfim-Freitas, M. Giżewska, P. Gundorova, D. Karall, K. Kneller, S.I. Kutsev, V. Leuzzi, H.L. Levy, U. Lichter-Konecki, A.C. Muntau, F. Namour, M. Oltarzewski, A. Paras, B. Perez, E. Polak, A.V. Polyakov, F. Porta, M. Rohrbach, S. Scholl-Bürgi, N. Spécola, M. Stojiljković, N. Shen, L.C. Santana-da Silva, A. Skouma, F. van Spronsen, V. Stoppioni, B. Thöny, F.K. Trefz, J. Vockley, Y. Yu, J. Zschocke, G.F. Hoffmann, S.F. Garbade, N. Blau, The genetic landscape and epidemiology of phenylketonuria, Am. J. Hum. Genet. (2020), https://doi.org/ 10.1016/j.ajhg.2020.06.006. open in new tab
- N. Blau, F.J. van Spronsen, H.L. Levy, Phenylketonuria, Lancet. 376 (2010) 1417-1427, https://doi.org/10.1016/S0140-6736(10)60961-0. open in new tab
- A.M.J. van Wegberg, A. MacDonald, K. Ahring, A. Bélanger-Quintana, N. Blau, A. M. Bosch, A. Burlina, J. Campistol, F. Feillet, M. Giżewska, S.C. Huijbregts, S. Kearney, V. Leuzzi, F. Maillot, A.C. Muntau, M. van Rijn, F. Trefz, J.H. Walter, F. J. van Spronsen, The complete European guidelines on phenylketonuria: diagnosis and treatment, Orphanet. J. Rare Dis. 12 (2017) 162, https://doi.org/10.1186/ s13023-017-0685-2. open in new tab
- R. Jahja, F.J. van Spronsen, L.M.J. de Sonneville, J.J. van der Meere, A.M. Bosch, C.E.M. Hollak, M.E. Rubio-Gozalbo, M.C.G.J. Brouwers, F.C. Hofstede, M.C. de Vries, M.C.H. Janssen, A.T. van der Ploeg, J.G. Langendonk, S.C.J. Huijbregts, Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study, J. Inherit. Metab. Dis. 39 (2016) 355-362, https://doi.org/10.1007/s10545-016-9918-0. open in new tab
- I. Eijgelshoven, S. Demirdas, T.A. Smith, J.M.T. van Loon, S. Latour, A.M. Bosch, The time consuming nature of phenylketonuria: a cross-sectional study investigating time burden and costs of phenylketonuria in the Netherlands, Mol. Genet. Metab. 109 (2013) 237-242, https://doi.org/10.1016/j. ymgme.2013.05.003. open in new tab
- C. Bilginsoy, N. Waitzman, C.O. Leonard, S.L. Ernst, Living with phenylketonuria: perspectives of patients and their families, J. Inherit. Metab. Dis. 28 (2005) 639-649, https://doi.org/10.1007/s10545-005-4478-8. open in new tab
- D. Walkowiak, B. Mikołuć, R. Mozrzymas, Ł. Kałużny, B. Didycz, D. Korycińska- Chaaban, M. Patalan, J. Jagłowska, A. Chrobot, E. Starostecka, J. Zarębska, J. Walkowiak, The impact of the COVID-19 pandemic on the perception of health and treatment-related issues among patients with phenylketonuria in Poland-the results of a national online survey, Int. J. Environ. Res. Public Health 18 (2021) 6399, https://doi.org/10.3390/ijerph18126399. open in new tab
- A. MacDonald, T.A. Smith, S. de Silva, V. Alam, J.M.T. van Loon, The personal burden for caregivers of children with phenylketonuria: a cross-sectional study investigating time burden and costs in the UK, Mol. Genet. Metab. Rep. 9 (2016) 1-5, https://doi.org/10.1016/j.ymgmr.2016.08.008. open in new tab
- G. Wood, A. Pinto, S. Evans, A. Daly, S. Adams, S. Costelloe, J. Gribben, C. Ellerton, A. Emm, S. Firman, S. Ford, M. French, L. Gaff, E. Giuliano, M. Hill, I. Hunjan, C. Newby, A. Mackenzie, R. Pereira, C. Prescott, L. Robertson, H. Seabert, R. Skeath, S. Tapley, A. Terry, A. Tooke, K. van Wyk, F.J. White, L. White, A. Woodall, J.C. Rocha, A. MacDonald, Special low protein foods prescribed in England for PKU patients: an analysis of prescribing patterns and cost, Nutrients. 13 (2021) 3977, https://doi.org/10.3390/nu13113977. open in new tab
- A. Belanger-Quintana, K. Dokoupil, H. Gokmen-Ozel, A.M. Lammardo, A. MacDonald, K. Motzfeldt, M. Nowacka, M. Robert, M. van Rijn, K. Ahring, Diet in phenylketonuria: a snapshot of special dietary costs and reimbursement systems in 10 international centers, Mol. Genet. Metab. 105 (2012) 390-394, https://doi. org/10.1016/j.ymgme.2011.12.004. open in new tab
- A.M. Martins, A.L.S. Pessoa, A.A. Quesada, E.M. Ribeiro, Unmet needs in PKU and the disease impact on the day-to-day lives in Brazil: results from a survey with 228 patients and their caregivers, Mol. Genet. Metab. Rep. 24 (2020), 100624, https:// doi.org/10.1016/j.ymgmr.2020.100624. open in new tab
- T. Mlčoch, R. Puda, P. Ješina, M. Lhotáková, Š . Š těrbová, T. Doležal, Dietary patterns, cost and compliance with low-protein diet of phenylketonuria and other inherited metabolic diseases, Eur. J. Clin. Nutr. 72 (2018) 87-92, https://doi.org/ 10.1038/ejcn.2017.102. open in new tab
- M. Gunduz, N. Arslan, O. Unal, S. Cakar, P. Kuyum, S.F. Bulbul, Depression and anxiety among parents of phenylketonuria children, Neurosciences (Riyadh) 20 (2015) 350-356, https://doi.org/10.17712/nsj.2015.4.20150319. open in new tab
- E. Medford, D.J. Hare, K. Carpenter, S. Rust, S. Jones, A. Wittkowski, Treatment adherence and psychological wellbeing in maternal carers of children with phenylketonuria (PKU), JIMD Rep. 37 (2017) 107-114, https://doi.org/10.1007/ 8904_2017_23. open in new tab
- N.-J. Simon, J. Richardson, A. Ahmad, A. Rose, E. Wittenberg, B. D'Cruz, L. A. Prosser, Health utilities and parental quality of life effects for three rare conditions tested in newborns, J. Patient Rep. Outcomes. 3 (2019) 4, https://doi. org/10.1186/s41687-019-0093-6. open in new tab
- F. Irannejad, M. Dehghan, R. Mehdipour Rabori, Stress and quality of life in parents of children with phenylketonuria, J. Child Adolesc. Psychiatr. Nurs. 31 (2018) 48-52, https://doi.org/10.1111/jcap.12207. open in new tab
- J. Mahmoudi-Gharaei, S. Mostafavi, N. Alirezaei, Quality of life and the associated psychological factors in caregivers of children with PKU, Iran. J. Psychiatry 6 (2011) 66-69.
- O. Ambler, E. Medford, D.J. Hare, Parenting a child with phenylketonuria: an investigation into the factors that contribute to parental distress, JIMD Rep. 41 (2018) 91-100, https://doi.org/10.1007/8904_2018_105. open in new tab
- A.E. ten Hoedt, H. Maurice-Stam, C.C.A. Boelen, M.E. Rubio-Gozalbo, F.J. van Spronsen, F.A. Wijburg, A.M. Bosch, M.A. Grootenhuis, Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life, J. Inherit. Metab. Dis. 34 (2011) 391-398, https://doi.org/10.1007/s10545-010- 9267-3. open in new tab
- A.M. Bosch, A. Burlina, A. Cunningham, E. Bettiol, F. Moreau-Stucker, E. Koledova, K. Benmedjahed, A. Regnault, Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries, Orphanet. J. Rare Dis. 10 (2015) 80, https://doi.org/10.1186/s13023-015-0294-x. open in new tab
- D. Walkowiak, A. Bukowska-Posadzy, Ł. Kałużny, M. Ołtarzewski, R. Staszewski, M. Musielak, J. Walkowiak, Therapy compliance in children with phenylketonuria younger than 5 years: a cohort study, Adv. Clin. Exp. Med. 28 (2019) 1385-1391, https://doi.org/10.17219/acem/104536. open in new tab
- K. Ahring, A. Bélanger-Quintana, K. Dokoupil, H. Gokmen-Ozel, A.M. Lammardo, A. MacDonald, K. Motzfeldt, M. Nowacka, M. Robert, M. van Rijn, Blood phenylalanine control in phenylketonuria: a survey of 10 European centres, Eur. J. Clin. Nutr. 65 (2011) 275-278, https://doi.org/10.1038/ejcn.2010.258. open in new tab
- D. Walkowiak, B. Mikołuć, R. Mozrzymas, Ł. Kałużny, B. Didycz, J. Jaglowska, D. Kurylak, J. Walkowiak, The impact of the first 2020 COVID-19 lockdown on the metabolic control of patients with phenylketonuria, Nutrients. 13 (2021) 2024, https://doi.org/10.3390/nu13062024. open in new tab
- J. Darbà, M. Ascanio, Admissions and cost of hospitalisation of phenylketonuria: Spanish claims database analysis, Clin. Drug. Investig. 39 (2019) 379-384, https:// doi.org/10.1007/s40261-019-00760-1. open in new tab
- F. Trefz, A.C. Muntau, K.M. Schneider, J. Altevers, C. Jacob, S. Braun, W. Greiner, A. Jha, M. Jain, I. Alvarez, P. Lane, C. Zeiss, F. Rutsch, Health economic burden of patients with phenylketonuria (PKU) -a retrospective study of German health insurance claims data, Mol. Genet. Metab. Rep. 27 (2021), 100764, https://doi. org/10.1016/j.ymgmr.2021.100764. open in new tab
- Á. Roddy, Income and conversion handicaps: estimating the impact of child chronic illness/disability on family income and the extra cost of child chronic illness/child disability in Ireland using a standard of living approach, Eur. J. Health Econ. 23 (2022) 467-483, https://doi.org/10.1007/s10198-021-01371-4. open in new tab
- L. Wang, H. Zou, F. Ye, K. Wang, X. Li, Z. Chen, J. Chen, B. Han, W. Yu, C. He, M. Shen, Household financial burden of phenylketonuria and its impact on treatment in China: a cross-sectional study, J. Inherit. Metab. Dis. 40 (2017) 369-376, https://doi.org/10.1007/s10545-016-9995-0. open in new tab
- A.M. Rose, S.D. Grosse, S.P. Garcia, J. Bach, M. Kleyn, N.-J.E. Simon, L.A. Prosser, The financial and time burden associated with phenylketonuria treatment in the United States, Mol. Genet. Metab. Rep. 21 (2019), 100523, https://doi.org/ 10.1016/j.ymgmr.2019.100523. open in new tab
- B. Lord, C. Wastell, J. Ungerer, Parent reactions to childhood phenylketonuria, Fam. Syst. Health 23 (2005) 204-219, https://doi.org/10.1037/1091- 7527.23.2.204. open in new tab
- B. Lord, J. Ungerer, C. Wastell, Implications of resolving the diagnosis of PKU for parents and children, J. Pediatr. Psychol. 33 (2008) 855-866, https://doi.org/ 10.1093/jpepsy/jsn020. open in new tab
- S.E. Waisbren, M. Rones, C.Y. Read, D. Marsden, H.L. Levy, Brief report: predictors of parenting stress among parents of children with biochemical genetic disorders, J. Pediatr. Psychol. 29 (2004) 565-570, https://doi.org/10.1093/jpepsy/jsh058. open in new tab
- A.P. Williford, S.D. Calkins, S.P. Keane, Predicting change in parenting stress across early childhood: child and maternal factors, J. Abnorm. Child Psychol. 35 (2007) 251-263, https://doi.org/10.1007/s10802-006-9082-3. open in new tab
- F. Feillet, A. MacDonald, D. Hartung Perron, B. Burton, Outcomes beyond phenylalanine: an international perspective, Mol. Genet. Metab. 99 (Suppl. 1) (2010) S79-S85, https://doi.org/10.1016/j.ymgme.2009.09.015. open in new tab
- S.K. Nelson-Coffey, M. Killingsworth, K. Layous, S.W. Cole, S. Lyubomirsky, Parenthood is associated with greater well-being for fathers than mothers, Personal. Soc. Psychol. Bull. 45 (2019) 1378-1390, https://doi.org/10.1177/ 0146167219829174. open in new tab
- F. Feillet, F.J. van Spronsen, A. MacDonald, F.K. Trefz, M. Demirkol, M. Giovannini, A. Bélanger-Quintana, N. Blau, Challenges and pitfalls in the management of phenylketonuria, Pediatrics. 126 (2010) 333-341, https://doi.org/ 10.1542/peds.2009-3584. open in new tab
- L.C. Burrage, J. McConnell, R. Haesler, M.A. O'Riordan, V.R. Sutton, D.S. Kerr, S. E. McCandless, High prevalence of overweight and obesity in females with phenylketonuria, Mol. Genet. Metab. 107 (2012) 43-48, https://doi.org/10.1016/ j.ymgme.2012.07.006. open in new tab
- D. Walkowiak, L. Kaluzny, A. Bukowska-Posadzy, M. Oltarzewski, R. Staszewski, J. A. Moczko, M. Musielak, J. Walkowiak, Overweight in classical phenylketonuria children: a retrospective cohort study, Adv. Med. Sci. 64 (2019) 409-414, https:// doi.org/10.1016/j.advms.2019.08.001. open in new tab
- N. Sawicka-Gutaj, D. Gruszczyński, P. Guzik, A. Mostowska, J. Walkowiak, Publication ethics of human studies in the light of the declaration of Helsinki -a mini-review, J. Med. Sci. 91 (2022) e700, https://doi.org/10.20883/medical.e700. open in new tab
- Knowledgebase on Economic Statistics -Methods and Country Practices, (n.d.). https://unstats.un.org/unsd/econstatkb/404.aspx?aspxerrorpath=/unsd/EconSta tKB/KnowledgebaseArticle10364.aspx. (accessed March 16, 2023). open in new tab
- J. Bosak, Social roles, in: T.K. Shackelford, V.A. Weekes-Shackelford (Eds.), Encyclopedia of Evolutionary Psychological Science, Springer International Publishing, Cham, 2018, pp. 1-4, https://doi.org/10.1007/978-3-319-16999-6_ 2469-1. open in new tab
- T. Mitchell, 7. Gender equality, Pew Research Center's Global Attitudes Project, 2019 https://www.pewresearch.org/global/2019/10/14/gender-equality-2/ (accessed April 23, 2023). open in new tab
- M. Zarzycki, V. Morrison, E. Bei, D. Seddon, Cultural and societal motivations for being informal caregivers: a qualitative systematic review and meta-synthesis, Health Psychol. Rev. (2022) 1-30, https://doi.org/10.1080/ 17437199.2022.2032259. open in new tab
- S. Evans, A. Daly, J. Wildgoose, B. Cochrane, C. Ashmore, S. Kearney, A. MacDonald, Mealtime anxiety and coping behaviour in parents and children during weaning in PKU: a case-control study, Nutrients. 11 (2019) 2857, https:// doi.org/10.3390/nu11122857. open in new tab
- F. Bösch, M.A. Landolt, M.R. Baumgartner, S. Fernandez, P. Forny, M. Gautschi, S. C. Grünert, J. Häberle, C. Horvath, D. Karall, D. Lampis, M. Rohrbach, S. Scholl- Bürgi, G. Szinnai, M. Huemer, Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism, Mol. Genet. Metab. Rep. 31 (2022), 100876, https://doi.org/10.1016/j.ymgmr.2022.100876. open in new tab
- R. Feldmann, E. Wolfgart, J. Weglage, F. Rutsch, Sapropterin treatment does not enhance the health-related quality of life of patients with phenylketonuria and their parents, Acta Paediatr. 106 (2017) 953-959, https://doi.org/10.1111/ apa.13799. open in new tab
- S. Ford, M. O'Driscoll, A. MacDonald, Living with phenylketonuria: lessons from the PKU community, Mol. Genet. Metab. Rep. 17 (2018) 57-63, https://doi.org/ 10.1016/j.ymgmr.2018.10.002. open in new tab
- K.M. Antshel, S. Brewster, S.E. Waisbren, Child and parent attributions in chronic pediatric conditions: phenylketonuria (PKU) as an exemplar, J. Child Psychol. Psychiatry 45 (2004) 622-630, https://doi.org/10.1111/j.1469-7610.2004.00251. x. open in new tab
- S. Ford, M. O'Driscoll, A. MacDonald, Prescribing issues experienced by people living with phenylketonuria in the UK, Mol. Genet. Metab. Rep. 21 (2019), 100527, https://doi.org/10.1016/j.ymgmr.2019.100527. open in new tab
- L. Borghi, E. Salvatici, G. Banderali, E. Riva, M. Giovannini, E. Vegni, Psychological wellbeing in parents of children with phenylketonuria and association with treatment adherence, Minerva. Pediatr. (Torino). 73 (2021) 330-339, https://doi. org/10.23736/S2724-5276.18.05126-5. open in new tab
- E. Thimm, L.E. Schmidt, K. Heldt, U. Spiekerkoetter, Health-related quality of life in children and adolescents with phenylketonuria: unimpaired HRQoL in patients but feared school failure in parents, J. Inherit. Metab. Dis. 36 (2013) 767-772, https://doi.org/10.1007/s10545-012-9566-y. open in new tab
- A. Morawska, A.E. Mitchell, E. Etel, G. Kirby, J. McGill, D. Coman, A. Inwood, Psychosocial functioning in children with phenylketonuria: relationships between quality of life and parenting indicators, Child Care Health Dev. 46 (2020) 56-65, https://doi.org/10.1111/cch.12727. open in new tab
- K. Carpenter, A. Wittkowski, D.J. Hare, E. Medford, S. Rust, S.A. Jones, D.M. Smith, Parenting a child with phenylketonuria (PKU): an interpretative phenomenological analysis (IPA) of the experience of parents, J. Genet. Couns. 27 (2018) 1074-1086, https://doi.org/10.1007/s10897-018-0227-7. open in new tab
- K.K. Iakovou, K. Schulpis, The beneficial effect of psychological support on mothers with PKU children who suffer from social discrimination and damage of quality of life, J. Pediatr. Endocrinol. Metab. 33 (2020) 95-98, https://doi.org/ 10.1515/jpem-2019-0384. open in new tab
- K. Iakovou, A. Madoglou, I. Monopolis, K. Schulpis, The effect of PKU diet on the maternal quality of life and social discrimination in relation to their educational status and place of living, J. Pediatr. Endocrinol. Metab. 32 (2019) 281-285, https://doi.org/10.1515/jpem-2018-0525. open in new tab
- A. Fidika, C. Salewski, L. Goldbeck, Quality of life among parents of children with phenylketonuria (PKU), Health Qual. Life Outcomes 11 (2013) 54, https://doi.org/ 10.1186/1477-7525-11-54. open in new tab
- P. Zengin Akkus, B. Bilginer Gurbuz, K. Ciki, E. Ilter Bahadur, S. Karahan, E. N. Ozmert, T. Coskun, S. Sivri, Caring for a child with phenylketonuria: parental experiences from a Eurasian country, J. Dev. Behav. Pediatr. 41 (2020) 195-202, https://doi.org/10.1097/DBP.0000000000000748. open in new tab
- R. Ben Abdelaziz, A. Ben Chehida, H. Kachouri, S. Ben Messaoud, M. Ferchichi, Z. Ben Ameur, Y. Sassi, M.S. Abdelmoula, H. Azzouz, N. Tebib, Quality of life and associated factors in parents of children with late diagnosed phenylketonuria. A cross sectional study in a developing country (Tunisia), J. Pediatr. Endocrinol. Metab. 33 (2020) 901-913, https://doi.org/10.1515/jpem-2020-0035. open in new tab
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