Psychological aspects, challenges to treatment and resources to support patients and caregivers of PKU patients: A scoping review

Phenylketonuria (PKU) is a metabolic disorder characterized by phenylalanine accumulation, leading to severe health issues. Following the PRISMA-ScR guidelines, this scoping review explores the psychosocial dimensions of PKU diagnosis, treatment, and management for adult and pediatric patients and caregivers. We also addressed barriers and resources to treatment management. PubMed, PsycINFO, EMBASE, Scopus, CINAHL, and BVS databases were searched, and articles were included if published between 2000 and 2023. Eighty-one peer-reviewed articles were included, showing that different factors have been identified as important in the parents/caregivers' and patients' experience of the disease and treatment. While consensus on psychosocial differences between PKU individuals and controls is lacking, higher phenylalanine levels correlate with poorer mental health in patients. Variables of the PKU patient were related to the mental health of the parents/caregivers, and psychosocial aspects of parents/caregivers were associated with the metabolic control of the child. Interventions aimed at the enhancement of personal and social resources may have a positive impact on the metabolic control and well-being of this population. In conclusion, patients' and parents’/caregivers' experiences of the disease and treatment include a wide range of psychosocial aspects. Studies suggest that psychosocial aspects play an important role in treatment management, supporting the recommendation for psychosocial screening of patients and parents/caregivers as part of usual health care monitoring. • Higher phenylalanine levels link to poorer mental health in PKU patients. • Psychosocial factors of parents/caregivers may affect children's metabolic control. • Psychoeducational interventions can help PKU patients and caregivers manage the condition while enhancing well-being.