ArticleMolecular genetics and metabolism reports2022
Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism.
Article in Molecular genetics and metabolism reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects: A Systematic Review.Journal of inherited metabolic disease · 2025Pooled it
- Trial-ready external controls for gene therapy: The MATCH cohort in maple syrup urine disease.Cell reports. Medicine · 2026Article
- The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study.Orphanet journal of rare diseases · 2026Article
- Self-Reported Health-Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders.Journal of inherited metabolic disease · 2026Observational
- The Emotional and Psychological Impact on Families Raising Children With Special Needs: A Primary Care Perspective.Health science reports · 2026Article
- Trigger points of palliative care assessment in inherited metabolic diseases.Orphanet journal of rare diseases · 2025Review
- Our lives with PKU: German patient voices - "Nothing about us without us".Molecular genetics and metabolism reports · 2025Article
- "In God We Trust": An Exploratory Study of the Associations Between Religiosity and the Caregiving Experiences of Parents of Children with Rare Diseases in Poland.Journal of religion and health · 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
- Understanding the impact of pediatric single large-scale mtDNA deletion syndromes on caregivers: Burdens and challenges.JIMD reports · 2023Article
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15 authors.
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Abstract
Background: Living with a non-acute (phenylketonuria) or acute (e.g. urea cycle disorders, organic acidurias) intoxication-type inborn error of metabolism (IT-IEM) can have a substantial impact on health-related quality of life (HrQoL) of paediatric patients and their families. Parents take primary responsibility for treatment monitoring and experience worry and fear about their child's health status. Quantitative evidence on parental psychological factors which may influence the HrQoL of patients with IT-IEM are sparse to non-existent. Methods: In this multicenter survey study 50 parents of IT-IEM patients (ages 5-19) assessed the severity of their child's disease, reported on caregiver burden, and proxy-rated their child's HrQoL. Additionally, 35 patient self-reports on HrQoL were obtained ( Results: Significant regression models for self-reported [ Conclusion: Detecting elevated burden of care and providing support for parents seems crucial to prevent adverse consequences for their children's HrQoL. Intervention studies are needed, to assess which support programs are most efficient.
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