What is known about patients' quality of life with Phenylketonuria and their caregivers? A scoping review

BackgroundPhenylketonuria (PKU) is a rare genetic disorder characterized by a deficiency in the metabolism of the essential amino acid phenylalanine, which has a neurotoxic effect at high concentrations. The available treatment for PKU involves limiting the intake of phenylalanine through a restrictive diet. Strict adherence to treatment is essential for a child's proper development. Owing to their rare and chronic condition, PKU patients and their caregivers need to address many specific challenges, which can affect their quality of life (QoL).PurposeThis review aimed to identify, characterize, map, and summarize existing knowledge about the quality of life of PKU patients and their primary caregivers.MethodsA scoping review was conducted following the PRISMA-ScR guidelines. The PubMed, PsycINFO, EMBASE, Scopus, CINAHL, and BVS databases were searched, and articles published between January 2000 and February 2023 were included.ResultsThe search resulted in 3249 articles, 29 of which were selected for analysis. Most studies were cross-sectional, and the highest concentration of publications ranged between 2011 and 2021. Generic self-report questionnaires were the tools most commonly used to assess patients' and their caregivers' QoL. A significant negative impact on QoL was found in most studies with pediatric patients and caregivers. High current and lifetime blood Phe levels were associated with worse QoL in several domains, and higher tolerance of ingested phenylalanine was associated with a lower impact on QoL. Among caregivers, psychosocial variables such as stress, anxiety, depression, and child behavior problems were associated with poorer QoL. Higher perceived social and emotional support was a protective factor of QoL in caregivers.ConclusionPatients of pediatric age and their caregivers, younger caregivers, and female patients and caregivers seem to be especially vulnerable to QoL impairments. The social and emotional dimensions were the most affected. These results emphasize the importance of combining generic and disease-specific assessment tools to achieve a comprehensive assessment. Despite the growing interest in this topic, the longitudinal literature is limited, and there is a lack of interventional studies on this population. Future interventions addressing diet management and providing psychosocial support may benefit the QoL of the PKU population.