Investigation of the effect of phenylketonuria disease and treatment on quality of the parent's and patient's life in our region

Objectives: The aim of this study was to assess the effect of patient families' quality of life, socio-demographic pattern and adherence to treatment on metabolic control of Phenylketonuria at our region. Material/methods: At the Akdeniz University Department of Child Metabolic Diseases, between November 2018 to February 2019, children with mildmoderate and classic PKU and their parents/caregivers were invited to complete a questionnaire was developed based on The phenylketonuria impact and treatment Quality Of Life Questionnaire (PKU-QOL). The research material designed to examine the association between quality of life and mean blood phenylalanine levels. The questionnaire includes the general aspects of PKU, the patients' symptoms, management of protein poor diet and supplementary food. The questions listed were answered in grades, "zero" being the lowest level and "one hundred" being the highest level. The lower the symptom score, the better the severity of PKU and the lower the adherence score, the better the compliance to treatment. For the rest, the lower scores was associated with the better disease outcomes. Results: 57 participants (patients n = 57; parents/caregivers of children, n = 57) with PKU completed the questionnaire. The sample consisted of more females than males ( females n=30 , 52.6%, males n=27, 47.4 respectively,) The main caregiver was the mother in 75.4% of cases, compared to 24.6% of cases in which it was the father. Just under half of them 49.1% aged 0 to5 years, 26.3% (n=15) aged 6 to 11 years, 24.6% (n=14) aged 12 years and more. Metabolic control of PKU was significantly associated with the age (p<0.001). The mean age for those bad and good metabolic control was 9.4 years and 4.7 years, respectively. For the mild-moderate/classic PKU, the severity of the metabolic control was not significantly associated with the families' quality of life. Our findings of significantly higher PKU general aspect scores in children aged between 0-5 years. Even it was not statically significant, protein poor diet and supplements compliance related to lower scores between 0 and 5 years, had good treatment adherence. Conclusion: PKU and its life-long treatment, may be considered as a great impact on the quality of life of patients, and their caregivers. General negative impact can be covered mostly on financial burden, social relationships, emotional stress. However no relation between those aspects and the metabolic control has been reported in many studies. It was observed that the only factor affecting the adherence to the treatment and metabolic control was the age of the patient. Also, several studies show that growing up negatively affects the metabolic control and adherence to treatment. On the other hand, how socio-demografic and socioeconomic pattern effect on metabolic control and adherence to treatment is still unknown. Because of the reason that Turkey has a particularly high incidence of PKU compared with other countries, further research is needed to fully understand a standardized picture of patient's perspective. Keywords: Phenylketonuria, Parents, Quality of Life, Treatment Adherence