Polish Society of Phenylketonuria in alphabetical order.
Phenylketonuria (PKU) still poses a therapeutic challenge for patients and medical professionals. The aim of the study was to assess both patients’ and their parents’ acceptance of the disease.
The study included 218 PKU patients and 178 parents of PKU children who were enrolled in the study on the basis of questionnaire data.
Regarding attitude towards the disease, our study demonstrated that 63 (28.9 %) PKU patients did not accept the disease. Patients who found accepting the disease difficult, more frequently perceived themselves as inferior/different in comparison with their peers. In total, 36 % of patients did not want their friends to be aware of their condition, while only 18 % of parents believed that their children’s peers should not know about their disease. In total, 42 % of parents wanted to talk to other parents of PKU children and only 13 % to a doctor. Only 20 % of patients saw the need to discuss their condition with a doctor. In total, 8 % of children, regardless of age, and 14 % of parents preferred to talk to a psychologist.
Our data demonstrated that disease acceptance played an essential role in patients’ social integration. The study also indicated the need to overcome communication barriers between patients and their healthy peers and for patients to find the courage to be open about the disease. The importance of support groups for PKU families and the significance of strict cooperation between patients and their families with PKU treatment teams were also revealed.
Lord, B., Wastell, C., & Ungerer, J. (2005). Parent Reactions to Childhood Phenylketonuria. Families, Systems, and Health, 23(2), 855–866. CrossRef
Weglage, J., Grenzebach, M., Pietsch, M., Feldmann, R., Linnenbank, R., Denecke, J., & Koch, H. G. (2000). Behavioural and emotional problems in early-treated adolescents with phenylketonuria in comparison with diabetic patients and healthy controls. Journal of Inherited Metabolic Disease, 23(5), 487–496. CrossRefPubMed
Simon, E., Schwarz, M., Roos, J., Dragano, N., Geraedts, M., Siegrist, J., et al. (2008). Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU). Health and Quality Life Outcomes, 6, 25. CrossRef
Kingsnorth, S., Gall, C., Beayni, S., & Rigby, P. (2011). Parents as transition experts? Qualitative findings from a pilot parent-led peer support group. Child: Care, Health and Development, 37(6), 833–840.
MacDonald, A., & Asplin, D. (2006). Phenylketonuria: practical dietary management. The Journal of Family Health Care, 16(3), 83–85. PubMed
Bernstein, L. E., Helm, J. R., Rocha, J. C., Almeida, M. F., Feillet, F., Link, R. M., & Gizewska, M. (2014). Nutrition education tools used in phenylketonuria: clinician, parent and patient perspectives from three international surveys. Journal of Human Nutrition and Dietetics, 27(Suppl 2), 4–11. CrossRefPubMed
Franz, M. J., Monk, A., Barry, B., McClain, K., Weaver, T., Cooper, N., et al. (1995). Effectiveness of medical nutrition therapy provided by dietitians in the management of non-insulin-dependent diabetes mellitus: a randomized, controlled clinical trial. Journal of the American Dietetic Association, 95(9), 1009–1017. CrossRefPubMed
Jennings, H. C., Connolly, C. B., Lamance, K., & Dominguez, B. (1999). Phenylketonuria (pku) camp promotes dietary compliance and reduction in serum phenylalanine (phe) levels. Journal of the American Dietetic Association, 99(9), A28. CrossRef
Singh, R. H., Kable, J. A., Guerrero, N. V., Sullivan, K. M., & Elsas, L. J. (2000). Impact of a camp experience on phenylalanine levels, knowledge, attitudes, and health beliefs relevant to nutrition management of phenylketonuria in adolescent girls. Journal of the American Dietetic Association, 100(7), 797–803. CrossRefPubMed
- Phenylketonuria patients’ and their parents’ acceptance of the disease: multi-centre study
Barbara Iwona Wojcicka-Bartlomiejczyk
Polish Society of Phenylketonuria
- Springer International Publishing