Cognition and wellbeing in middle-aged early treated people with phenylketonuria: Preliminary results and methodological lessons.
Thomas L.;Aitkenhead L.;Stepien K.M.;Woodall A.;Macdonald A. and Romani, C.
Molecular Genetics and Metabolism Reports 41(pagination), pp. Article Number: 101160. Date of Publication: December 2024
This study examined cognition and wellbeing in 19 middle-aged adults with PKU and compared this to younger PKU individuals and an age-matched group (people without PKU).
What did they find?
Middle-aged PKU individuals had slower thinking speed than younger PKU individuals. Compared to the age-matched group, they showed mild brain function difficulties, mainly in reaction time and attention. In terms of wellbeing, anxiety and depression were significantly higher in middle-aged PKU individuals than in the age-matched group, as well as reporting a greater negative impact from COVID-19 on mental wellbeing. Quality of life declined more in middle-aged PKU individuals than in younger ones, likely due to a combination of aging and the pandemic. The impact of PKU on daily life and wellbeing varied between individuals.
Strengths and weaknesses
This study highlights an important but under-researched area, especially as the first generation of early-treated PKU patients reach middle age. The comparisons with both younger PKU individuals and an age-matched group strengthens the findings. However, only a small number of middle-aged PKU participants were included in the study. There are outside influences which may have affected the findings such as difference in testing methods (older participants took tests online, younger ones in person) and the COVID-19 pandemic.
Conclusion
This study offers valuable insight into the effects of aging on brain function and welling in PKU, with the results suggesting some age-related effects. However, there are some inconsistencies (COVID-19 pandemic, method of cognitive testing) which may prevent firm conclusions.
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What is known about patients' quality of life with Phenylketonuria and their caregivers? A scoping review.
Remor E.;Gabe K.M.;Teruya K.I. and Doederlein Schwartz, I. V.
Orphanet Journal of Rare Diseases 19(1) (pagination), pp. Article Number: 402. Date of Publication: December 2024
This paper presents a review of the existing research into the quality of life of individuals with PKU and their main caregiver. It included 29 studies from 13 countries published between 2000 and 2023.
What did they find?
Children with PKU had lower quality of life than other children their age, especially in emotional, academic and social areas. Adults with PKU didn’t show the same general trend, but did face mental and social challenges. Higher lifetime levels of blood Phe were associated with worse quality of life. Caregivers, mostly mothers, experienced high stress, guilt and anxiety. Lower income, education and social support worsened their wellbeing. The review also found females with PKU and female caregivers had worse quality of life than males. A few factors were found to improve life quality including higher tolerance to Phe intake, better control of Phe levels and social help like parental training and counselling.
Strengths and Weaknesses
This review included a range of studies with over 2000 patients and caregivers from 13 different countries, providing valuable insight into what areas should be focused on to improve patient and caregivers’ quality of life. However, most studies looked at information at a single time point, making it difficult to track long-term trends. The research focused more children with PKU, with less emphasis on adults, providing little information on the challenges of aging and employment.
Conclusion
This review highlights the impact of PKU on quality of life, especially for children and their caregivers, younger caregivers and females, with social and emotional factors effecting quality of life most.
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A Qualitative Investigation into the Determinants of Unfulfilled Needs in Caregivers of Patients with Phenylketonuria.
Zheng Y.J.;Hou Y.C.;Zhao H.;Wang X.Y.;Liu Y.D.;Li L.;Yu L. and Guo, M. M.
Patient Preference and Adherence 18, pp. 2249–2259
This paper explores the factors influencing unmet needs among caregiver of children with PKU. The study, conducted in China, involved interviews with 16 caregivers and 5 medical professionals.
What did they find?
The study identified several barriers affecting the unmet needs of caregivers. Personal factors including a lack of PKU knowledge, financial strain, difficulty accessing special dietary foods, and poor palatability leading in children not sticking to the diet. Social factors, such as stigma, reluctance to discuss the condition, isolation due to caregiving demands, a lack of support networks, and poor doctor-patient communication. Healthcare barriers, including inadequate training in PKU management, gaps in national policy, and a lack of financial or healthcare support. Finally, caregivers’ mental wellbeing was affected, with high levels of stress, anxiety, and depression being reported, but little access to support.
Strengths and Limitations
The study addresses an under-researched topic in PKU research, providing valuable insight into caregivers’ struggles and highlighting the range of unmet needs. Through interviews, this study captured lived experiences and first-hand perspectives. However, its findings are limited by its small, one-country sample, with most of these being mothers. This may overlook other family member experiences and cultural differences may also mean findings do not fully apply in other countries, such as the UK.
Conclusion
Despite its small, country-specific sample, this study provides valuable insights into the struggles of PKU caregivers, highlighting the need for better medical, financial, and emotional support systems.
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Parenting a Child with Phenylketonuria (PKU): an Interpretative Phenomenological Analysis (IPA) of the Experience of Parents.
Carpenter K, Wittkowski A, Hare DJ, Medford E, Rust S, Jones SA, Smith DM.
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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Treatment Adherence and Psychological Wellbeing in Maternal Carers of Children with Phenylketonuria (PKU).
Medford E, Hare DJ, Carpenter K, Rust S, Jones S, Wittkowski A.
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.
Read the full research here.
Parenting a Child with Phenylketonuria (PKU): an Interpretative Phenomenological Analysis (IPA) of the Experience of Parents.
Carpenter K, Wittkowski A, Hare DJ, Medford E, Rust S, Jones SA, Smith DM.
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.
Read the full research here.
Phenylketonuria patients' and their parents' acceptance of the disease: multi-centre study.
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.
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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Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitative Analysis.
Roberts RM, Muller T, Sweeney A, Bratkovic D, Gannoni A, Morante B.
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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The personal burden for caregivers of children with phenylketonuria: A cross-sectional study investigating time burden and costs in the UK
MacDonald A, Smith TA, de Silva S, Alam V, van Loon JM.
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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Provision and Supervision of Food and Protein Substitute in School for Children with PKU: Parent Experiences
Hannah Jones, Alex Pinto, Sharon Evans, Suzanne Ford, Mike O’Driscoll, Sharon Buckley, Catherine Ashmore, Anne Daly and Anita MacDonald
Nutrients 2021, 13(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.