Abstract

Objective: This study investigates the psychological outcomes of children with phenylketonuria (PKU) and their fathers, focusing on the impact of paternal engagement on child psychological well-being, quality of life, and metabolic control.

Patients And Methods: A monocentric prospective observational study was conducted on a cohort of 30 fathers and their children with PKU (aged 6–12 years) at the University Hospital of Padua (Italy). Psychological assessments included the Phenylketonuria – Quality of Life questionnaire (PKU-QOL), the Intolerance of Uncertainty Scale for children, and the Parenting Stress Index Short Form (PSI-SF), Patient Health Questionnaire-9 (PHQ-9), and Generalized Anxiety Disorder-7 (GAD-7) for fathers. An ad hoc questionnaire was developed to measure paternal engagement in disease management. Correlation and regression analyses were performed to explore associations between paternal involvement, psychological functioning, and metabolic control.

Results: Fathers reported a generally high level of engagement, though some expressed feelings of guilt over the genetic transmission of PKU and perceived their role as secondary to mothers. Higher paternal engagement was associated with lower parental stress, improved child quality of life, and reduced intolerance of uncertainty. Regression analysis revealed that paternal stress and engagement significantly predicted children's quality of life, highlighting the relevance of psychological and family dynamics in disease management.

Conclusions: Encouraging paternal involvement in PKU care positively impacts both children and fathers, contributing to better psychological well-being and adherence to treatment. Healthcare professionals should recognize and support the role of fathers to optimize family-centered care in PKU management.