Medford E, Hare DJ, Carpenter K, Rust S, Jones S, Wittkowski A.
Treatment Adherence and Psychological Wellbeing in Maternal Carers of Children with Phenylketonuria (PKU).
JIMD Rep. 2017; 37: 107-114.

The aims of this study were to (1) examine the psychological impact of parenting a child with PKU, (2) examine influences on parental psychological wellbeing and (3) examine the relationship between parental wellbeing and treatment adherence.

46 parents of children with PKU (aged 0-16years old) attending Manchester, Liverpool and Bradford PKU clinics participated. They completed a variety of questionnaires on psychological distress, parenting stress, social support, and child dependency. Also, they looked at the % of blood phenylalanine levels within target range and the number of blood spots returned compared with expected numbers.

59% of caregivers showed clinical levels of psychological distress, which was predicted by their parenting stress and resilience. Despite experiencing high levels of distress, the results indicated that the caregivers’ ability to adhere to treatment was not affected. The need for appropriate support for caregivers, such as referral to appropriate psychological services or support groups was identified.

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Carpenter K, Wittkowski A, Hare DJ, Medford E, Rust S, Jones SA, Smith DM.
Parenting a Child with Phenylketonuria (PKU): an Interpretative Phenomenological Analysis (IPA) of the Experience of Parents.
J Genet Couns. 2018 Sep;27(5):1074-1086.

This study explored the ‘lived’ experience of parenting a child with PKU in their first 2 years. 7 parents were interviewed attending PKU clinics in Manchester, Liverpool and Bradford.

Firstly, at diagnosis parents immediately were expected to achieve acceptable blood phe control in their child, irrespective of parental feelings and their emotional reactions.  All parents were aware that their child’s brain development depended on their ability to manage PKU appropriately.

Despite anxiety about these challenges, parents had to adjust to the requirements of managing the treatment for PKU and developing family routines accordingly.  Following this, parents moved onto minimising the impact of PKU on their child, which required considerable effort from parents as they strived to make things as normal as possible for their child.

After achieving acceptable blood phenylalanine control in their child and seeing them live a normal life, most parents accepted PKU as part of their and their child’s lives.

However, not all parents were accepting of the diagnosis of PKU; they experienced more intense negative emotions akin to grief reactions, in particular denial, anger and depression.

All parents interviewed wanted more contact with other parents and valued input from healthcare professionals to facilitate this contact.

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Witalis E, Mikoluc B, Motkowski R, Szyszko J, Chrobot A, Didycz B, Lange A, Mozrzymas R, Milanowski A, Nowacka M, Piotrowska-Depta M, Romanowska H, Starostecka E, Wierzba J(10), Skorniewska M, Wojcicka-Bartlomiejczyk BI, Gizewska M; Polish Society of Phenylketonuria.
Phenylketonuria patients' and their parents' acceptance of the disease: multi-centre study.
Qual Life Res. 2016 Nov;25(11):2967-2975. Epub 2016 May 31.

The aim of the study was to assess both patients’ and their parents’ acceptance of PKU and to analyse these attitudes in different age groups. The study included 218 patients with PKU (aged 10 to 35years) and 178 parents of PKU children from Poland. Parents and their children completed a questionnaire about their acceptance of PKU, self-perception in the context of the disease, social relations and communication needs in the family and the community

29 % of patients did not acknowledge their PKU, whilst 28 % of parents did not accept their children’s PKU. Patients who found accepting the disease difficult, more frequently perceived themselves as inferior/ different in comparison with their peers. 36 % of patients did not want their friends to be aware of their condition, while 18 % of parents believed that their children’s peers should not know about their disease. 71 % of parents experienced anxiety about their children’s future. 42 % of parents wanted to talk to other parents of PKU children and only 13 % to a doctor. Parents of the youngest children (under 6 years of age) felt the greatest need for psychological support.

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Roberts RM, Muller T, Sweeney A, Bratkovic D, Gannoni A, Morante B.
Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitative Analysis.
JIMD Rep. 2017; 32:41-49.

This study aimed to explore the experiences of women with PKU, but also looked at their childhood experiences and how these may have influenced them in adulthood. Eight women with PKU, identified by newborn screening, from South Australia underwent interviews that were recorded. Most of the women had a history of acceptable blood phenylalanine control.

Interviews revealed that feeling different to peers as a child, challenges with management of the condition during adolescence, parental and extended family support, and the perception of PKU as a burden during childhood were associated with adulthood experiences.

Positive adult outcomes, such as acceptance of PKU, continued appropriate management of PKU, positive psychological wellbeing, perception of minimal difficulty eating in social contexts, and ease of transition to independent management of the condition appeared to be related to childhood experiences such as high levels of parental and extended family support, parental support to develop skills and knowledge to manage PKU, increased feelings of inclusion, and minimal perception of PKU as a burden.

Parental support is important in modelling management of PKU and establishing the child’s dietary patterns, potentially assisting adjustment to adulthood in terms of attitude, diet, and psychological wellbeing.

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MacDonald A, Smith TA, de Silva S, Alam V, van Loon JM.
The personal burden for caregivers of children with phenylketonuria: A cross-sectional study investigating time burden and costs in the UK.
Mol Genet Metab Rep. 2016 Aug 28;9:1-5.

This was a UK cross-sectional study which was conducted to identify the personal time and financial costs associated with PKU for caregivers of children (aged below 18 years) living with PKU. One hundred and fourteen caregivers from four UK PKU centres (Birmingham Children's Hospital, Bristol Royal Hospital for Children, St Luke's Hospital in Bradford, and Evelina Children's Hospital, London) completed questionnaires between September 2012 and March 2013. The time taken to care for the PKU diet was a median time burden of 19 hours per week. Out of pocket costs were incurred attending PKU events, purchasing PKU-related equipment such as bread makers, and extra holiday expenditure. 21% of caregivers reduced their working hours (median 18.5 hours/week) to care for their child, with a further 24% leaving their paid jobs completely.

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Hannah Jones, Alex Pinto, Sharon Evans, Suzanne Ford, Mike O’Driscoll, Sharon Buckley, Catherine Ashmore, Anne Daly and Anita MacDonald

Provision and Supervision of Food and Protein Substitute in School for Children with PKU: Parent Experiences

 Nutrients 202113(11), 3863

This cross-sectional study is the first published about the nursery and school experiences of children with PKU and their caregivers report about  having the PKU-related needs of the children met in the school setting.

The 159 responses to the survey have a good representation of preschool or nursery, primary and secondary school experiences.  The most notable finding was that 61% of children had individualised health care plans in place at their school setting and these were associated with better low protein food and protein substitute administration and better communication between the school team and the parents/caregivers.  However, 61% of the children reported on did not have school meals, for various reasons such as the schools refusing to provide appropriate meals, or caregiver distrust of the systems; and for this reason children and families with PKU were disadvantaged as they were not able to benefit from free school meals when they would otherwise have been eligible.

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