Psychological and psychosocial implications for parenting a child with phenylketonuria: a systematic review

Since phenylketonuria (PKU) appears to have specificities that might challenge the parents' adaptation and well-being, the present review aimed to evaluate the impact of parenting a child with PKU on parents' psychological and psychosocial functioning.

A systematic electronic search was conducted using PubMED, Scopus, Embase, PsychInfo, Google Scholar and Cochrane Database to identify studies exploring psychological and psychosocial issues of parents of PKU children. The search retrieved 427 articles to review against inclusion criteria; a total of 17 studies were included in the review. Results were summarized qualitatively.

Findings revealed a complex pattern of interrelated factors both on parental psychological wellbeing and psychosocial functioning. In particular, crucial for parents' adjustment to child PKU are the diagnosis resolution and the perceived social support; parents showed good coping strategies and quality of life; while, with regard to mental health, the studies reviewed showed inconsistent results, thus pointed out a moderate level of distress. The review examines patterns of results across studies and discusses methodological heterogeneities and problems related to different or inconsistent findings.

Parenting a child with PKU had direct implications on the diagnosis resolution, the parents mental health and the disease management. Findings could help healthcare professionals to identify situations at risk for psychological maladjustments both in parents and in children, as the unresolved diagnosis or a tendency toward the social isolation. Results highlighted the necessity of a multidisciplinary caring approach for the family, with a particular focus on critical moments such diagnosis or developmental transitions.