Parenting children with phenylketonuria (PKU): emotional and psychosocial outcomes and their association with blood phenylalanine levels

Background and objectives. Newborn screening and early treatment turned phenylketonuria into a treatable condition with good health outcomes. The parents' role is crucial for disease management and child wellbeing, nevertheless, PKU parents may suffer from several emotional and psychosocial maladjustments. We conducted a cross-sectional study aimed to: 1) evaluate the emotional and psychosocial characteristics of parents of PKU children; 2) assess if these variables are related to blood phenylalanine (Phe) levels of their children. Methods. 150 parents' socio-demographic data, psychological (SCL-90R, STAI-Y, BDI-2 and STAXI-2) and quality of life (SF-36) outcomes, and patients’ clinical data were collected. Results. Parents have emotional and psychosocial outcomes comparable to the general population. Gender (female), lower educational level, single/divorced marital status and children’s critical age (e.g., neonatal) are associated with poor emotional outcomes in parents. Children blood Phe levels are directly related to state-anxiety (r=0.353, p=0.002), trait-anxiety (r=0.362, p=0.002) and anger expression-out (r=0.249, p=0.041). Conclusions. Parenting children with PKU does not have implications for emotional outcomes or quality of life. Maladjustments arise in specific socio-demographic conditions or with children’s high Phe levels. Results provide useful insights to set up prevention programs and help clinicians to identify specific situations at risk for non adherence to dietary therapy.