DİYET UYGULAYAN VEYA SAPROPTERİN HİDROKLORİD ALAN FENİLKETONÜRİ HASTALARI VE AİLELERİNİN STRES DÜZEYLERİ VE YAŞAM KALİTELERİNİN DEĞERLENDİRİLMESİ

Abstract

Demirel D. Evaluation of stress levels and quality of life of phenylketonuria patients on diet and/or sapropterin hydrocloride therapy and their parents, Hacettepe University Faculty of Medicine, Department of Pediatrics, Thesis, Ankara, 2020. Phenylketonuria is an autosomal recessive inherited disease caused by absence of the enzyme phenyalanine hydroxylase. Serum phenylalanine levels are responsible for clinical findings. Disease control is ensured by either phenylalanine restriction on diet or on some patients increasing phenylalanine tolerance by sapropterin hydrocloride therapy. The disease is hard to cope with both for the patients and their parents because of diet obligation, high expenditures for the formulas required for the diet, requirement of regular clinical examinations and possible development of mental disability and psychiatric disorders in case of inadequate accordance to diet. Therefore, in this study we aimed to enlighten the stress levels and life hardships of phenylketonuria patients and their parents. Between January 2020 – June 2020, each phenylketonuria patient and their parent who arrived for their regular clinical examination, except for the ones with another chronic illness, the ones with diagnosed tetrahydrobiopterin metabolism disorder and the ones who are pregnant were included. A total of 156 patients were included. Parents were asked to fill the parenting stress index, Zarit burden interview and the strengths and difficulties questionnaire and children over the age of eleven were asked to fill the Rosenberg self-esteem scale, the stait-trait anxiety inventory and strengths and difficulties questionnaire. We found a significant negative correlation between Rosenberg self-esteem scale and age at diagnosis, (r=-.27, p=.035), age of the mother (r=-.33, p=.009) and age of the father (r=-.38, p=.004). There was a significant positive correlation between the stait anxiety disorder and age of the patient, (r=.36, p=.006) , age of the mother (r=.29, p=.031) and age of the father (r=.38, p=.024). In child form of strengths and difficulties quationnaire; emotional problems part was significantly positively correlated with serum phenylalanine levels at diagnosis (r=.35, p=.036); total points were significantly positively correlated with serum phenylalanine levels at clinical examination (r=-.34, p=.004) and social problems part was significantly negatively corelated with the age of the father (r=-.34, p=.047). We found a significant positive correlation between Zarit burden index and number of siblings (r=.195, p=.023). In parent form of strengths and difficulties quationnaire; emotional problems part was significantly positively correlated with age of the patient (r=.217, p=.032), peer problems part was significantly positively correlated with age at diagnosis (r=.211, p=.037), behavioral problems (r=.203, p=.045) and attention deficit and hyperactivity (r=.203, p=.045) parts were significantly positively correlated with serum phenylalanine levels at diagnosis. As a result greater age at and higher serum levels of phenylalanine at diagnosis cause stress on patients and parents by increasing life hardships. Mothers, fathers, healthy siblings and the patients should be psychologically evaluated and support should be provided if needed.