Treatment Adherence and Psychological Wellbeing in Maternal Carers of Children with Phenylketonuria (PKU)

Abstract

Phenylketonuria (PKU), a rare metabolic disorder, causes cognitive impairment unless treated with a strict, protein-restricted diet, but few studies have examined the relationship between treatment compliance and parental wellbeing. In the present study, 46 primary caregivers of children with PKU completed measures of psychological distress, parenting stress (related to caring for a child with an illness), resilience, perceived social support and child dependency. Treatment adherence was assessed using the proportion of blood phenylalanine concentrations within target range in the preceding year. Results indicated that 59% of caregivers showed clinical levels of psychological distress, which was predicted by their parenting stress and resilience. Whilst the proportion of blood phenylalanine concentrations in range was not associated with parental distress, it was predicted by child age and caregiver's perceived support from family. Despite experiencing high levels of distress, the results indicated that caregivers' ability to adhere to treatment was not affected. Interventions to reduce parenting stress and boost caregiver resilience may have a positive effect on parental wellbeing. Additionally, interventions to promote treatment adherence benefit parents of older children, with a focus on promoting support from family members. Further research with larger sample sizes and longitudinal designs is needed to further establish causal mechanisms.

Parenting a Child with Phenylketonuria (PKU): an Interpretative Phenomenological Analysis (IPA) of the Experience of Parents

“…Study design, protocols and participant materials were discussed with and approved by the National Society for Phenylketonuria (NSPKU 2014 ). Parents with children under 2 years old were recruited from three PKU clinics in the North of England as part of a wider study (Medford et al 2017a , b ). After assessment by the clinical team, parents were excluded if there were other significant family stressors (e.g.…”

Mealtime Anxiety and Coping Behaviour in Parents and Children during Weaning in PKU: A Case-Control Study

“…Therefore, in line with previous research into parental anxiety in PKU [17], mothers of children with PKU seem to adapt to the additional stresses that they experience during the weaning period. They are most likely to cope by relying on family (including grandparents) [4], being optimistic [3] and gaining understanding of PKU through communication with their specialist dietitians. This involved believing their children were receiving the best medical care, spending quality time with their children, receiving support from their spouse and trying to ensure prescribed protein substitute and protein exchanges were taken.…”

“…Therefore, following a diagnosis of PKU and early months of weaning, families need to redefine their way of life. Family unity, optimism in the face of stress, developing positive relationships with their health care team and gaining a good understanding of the treatment required are important coping mechanisms [3,4]. Regular weekly contact with a consistent and experienced dietitian for the first two years of life is central to this support.…”

“…Parents must ensure that their children consume a non-negotiable and weighed amount of natural protein together with a bitter tasting protein substitute in prescribed amounts each day. Parents understand that the neurological outcome of their child depends on their ability to successfully implement diet therapy, and this can have a significant impact on stress and quality of life [1][2][3][4].…”

“…Thereby, parents of children with PKU require a diverse range of complex skills and additional time in order to manage and control dietary treatment, as well as the stress associated with adherence, social isolation and regular blood Phe monitoring [1,3,6,7]. Metabolic and psychological outcomes are likely to be influenced by parental coping strategies and the ability of the family to alter their lifestyle to accommodate the demands of a complex dietary regimen [2][3][4][5]. However, it is uncertain what coping mechanisms exist in the parents of children with PKU, and how this might compare with parents of children with other health conditions or those of normal healthy children.…”