ArticleJournal of genetic counseling2018
Parenting a Child with Phenylketonuria (PKU): an Interpretative Phenomenological Analysis (IPA) of the Experience of Parents.
Article in Journal of genetic counseling, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 6 of them syntheses that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
26 citing papers in PubMed, 6 syntheses or guidelines pooled it.
- Invisible but central: family caregiving as the hidden infrastructure of pediatric PKU-an integrative review.Systematic reviews · 2026Pooled it
- Phenomenological research in the field of Infant Mental Health and Early Childhood (IECMH) -A mapping review.Infant mental health journal · 2026Pooled it
- Psychosocial issues of neonatal screening in the context of its major expansion: a scoping review.Frontiers in psychology · 2025Pooled it
- Benefits and harms of antenatal and newborn screening programmes in health economic assessments: the VALENTIA systematic review and qualitative investigation.Health technology assessment (Winchester, England) · 2024Pooled it
- Italian national consensus statement on management and pharmacological treatment of phenylketonuria.Orphanet journal of rare diseases · 2021Pooled it
- Absorbing it all: A meta-ethnography of parents' unfolding experiences of newborn screening.Social science & medicine (1982) · 2021Pooled it
- The psychological burden of nutritional treatment in inherited metabolic disorders: Navigating daily life.Molecular genetics and metabolism reports · 2026Article
- Parental experience and information needs following a positive newborn screening test-based neonatal diagnosis of a chronic condition: an integrative review.International journal of nursing studies advances · 2026Review
- Examining the role of social workers within clinical metabolic genetics care.Molecular genetics and metabolism reports · 2026Review
- The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study.Orphanet journal of rare diseases · 2026Article
- Exploring the impact on intrafamilial support systems when newborn screening programmes contact parents with an initial screen positive result.European journal of human genetics : EJHG · 2026Review
- Psychosocial Challenges Facing Young People With Inherited Metabolic Disorders and Their Parents: A Systematic Review.JIMD reports · 2025Article
- What is known about patients' quality of life with Phenylketonuria and their caregivers? A scoping review.Orphanet journal of rare diseases · 2024Article
- Becoming a Rare Disease Parent: An Interpretative Phenomenological Analysis of Parent-Caregivers' Postpartum Experiences.Qualitative health research · 2024Article
- Professional activity, gender and disease-related emotions: The impact on parents' experiences in caring for children with phenylketonuria.Molecular genetics and metabolism reports · 2023Article
- Life story of Iranian parents of a child with phenylketonuria: a qualitative study.Journal of community genetics · 2023Article
- Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism.Molecular genetics and metabolism reports · 2022Article
- "Why them, why me, why us?" The experiences of parents of children with lysosomal acid lipase deficiency: an interpretative phenomenological analysis study.Orphanet journal of rare diseases · 2022Article
- Pain points in parents' interactions with newborn screening systems: a qualitative study.BMC pediatrics · 2022Article
- The Impact of the COVID-19 Pandemic on the Perception of Health and Treatment-Related Issues among Patients with Phenylketonuria in Poland-The Results of a National Online Survey.International journal of environmental research and public health · 2021Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Phenylketonuria (PKU) is a rare inherited metabolic disorder which can cause neurological damage if left untreated. PKU is identified through newborn screening in developed countries, and treatment begins immediately to prevent these severe consequences. When a child is diagnosed, parents must assume immediate responsibility for the management of PKU and prevention of neurological damage. Quantitative studies have identified significant psychosocial stressors for parents, but little is known about how the parents experience this process. This study aimed to explore the experiences of parents of children with PKU under the age of two. It is the first study to examine these experiences in this way. Seven parents were interviewed about their experiences, and interpretative phenomenological analysis was used to analyse the data. Three main themes were identified: control, striving for normality and acceptance of PKU as a continuum. Links between the themes and processes underpinning the results were explored with relation to existing literature and theories from a clinical psychology perspective. The role of acceptance of PKU was central to the parent's experiences. Clinical implications and suggestions for further research are discussed.
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