Quality of life in children living with PKU – a single-center, cross-sectional, observational study from Hungary

Abstract

Background Phenylketonuria (PKU) is an inherited error of metabolism, screened at 48–72 h of life since 1975 in Hungary. The patients have to keep a strict lifelong protein-restricted diet, resulting in PKU and its treatment can lead to social and financial burdens. The current study aimed to evaluate the health-related quality of life (HRQoL) of children living with PKU. Patients and methods A single-centre, cross-sectional, observational study was conducted at the Center of Newborn Screening and Inherited Metabolic Disorders of Budapest, Hungary, using the PKU-quality of life (PKU-QoL) questionnaire. Responses of 59 parents and 11 teenagers were collected. Numerous aspects regarding HRQoL were analysed according to clinical compliance and severity. The patients were classified into groups with good or suboptimal adherence based on regular phenylalanine (Phe) values. The online officially translated versions of the adolescent or parental PKU-QoL questionnaire were used and analysed anonymously. Differences in HRQoL were compared - PKU vs. Hyperphenylalaninaemia (HPA) and good vs. suboptimal adherence. Results Twenty-five of 32 examined parameters had no or little impact on HRQoL. The most frequently reported symptom was irritability. Food enjoyment was the most impacted domain, with a major severity score in the adolescent group (median 62,5, IQR: 25–75). The emotional impact was scored at moderate severity by both the adolescents and parents. Classical PKU patients with good metabolic control were more frequently tired than HPA patients (0,0027). The group with poor metabolic adherence showed more frequent tiredness ( p = 0,03), slow thinking (p = 0,018) and anxiety (p = 0,015). Conclusion Overall, our patients showed an excellent HRQoL; most domains (29/36) were reported as little/no impacted. Worse QoL was found in patients with suboptimal metabolic control. Particular attention should be paid to the emotional health of PKU patients.

Dietary eating patterns, dairy consumption, and anxiety: A systematic literature review

“…Significant positive associations were reported for a gluten-free diet [ 35 ] and an omnivore diet [ 69 ]. Significant inverse associations were observed for dairy consumption [ 107 ], nutrition-related behavior score [ 108 ], and a protein-restricted diet [ 109 ]. There was no association between a traditional diet and risk of anxiety [ 69 ].…”

Impact on Diet Quality and Burden of Care in Sapropterin Dihydrochloride Use in Children with Phenylketonuria: A 6 Month Follow-Up Report

“…Becsi reported that most parameters related to quality of life were within normal ranges. However, there was a considerable negative impact on food enjoyment was noted in adolescents, and emotional impact of PKU management was classified as moderate for both adolescents and caregivers [ 15 ]. A survey conducted by Ford et al showed that 36% of adults had feelings of guilt and self-blame about PKU; 34% of adults and 17% of children had difficulties in relationships with family/partner and friends and 75% of caregivers considered PKU to be a considerable source of worry and strain [ 16 ].…”