Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism.

ASS, Argininosuccinate synthase 1 AT, Austria Aminoacidopathies CBT, Cognitive-behavioural therapy CH, Switzerland Caregiver burden DE, Germany Disease severity GA1, Glutaric aciduria type 1 Health-related quality of life HrQoL, Health-related quality of life IT-IEM, Intoxication-type inborn errors of metabolism IVA, Isovaleric acidemia Inborn errors of metabolism MMA, Methylmalonic aciduria OA, Organic acidurias OTC, Ornithine transcarbamylase Organic acidurias PA, Propionic academia PKU, Phenylketonuria PST, Problem-solving therapy Phenylketonuria UCD, Urea cycle disorders Urea cycle disorders

Journal

Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422

Informations de publication

Date de publication:
Jun 2022
Historique:
received: 14 03 2022
revised: 27 04 2022
accepted: 27 04 2022
entrez: 28 6 2022
pubmed: 29 6 2022
medline: 29 6 2022
Statut: epublish

Résumé

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. 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 ( Significant regression models for self-reported [ 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.

Sections du résumé

Background UNASSIGNED
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 UNASSIGNED
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 UNASSIGNED
Significant regression models for self-reported [
Conclusion UNASSIGNED
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.

Identifiants

DOI: 10.1016/j.ymgmr.2022.100876 PMID: 35762020 PMC: PMC9233158
pubmed: 35762020
doi: 10.1016/j.ymgmr.2022.100876
pii: S2214-4269(22)00036-2
pmc: PMC9233158
doi:

Types de publication

Journal Article

Langues

eng

Pagination

100876

Informations de copyright

© 2022 The Authors.

Déclaration de conflit d'intérêts

The authors of this manuscript declare no competing interests but disclose the following: F. Bösch, M.A. Landolt, S. Fernandez, P. Forny, M. Gautschi, S.C. Grünert, C. Horvath, D. Karall, D. Lampis, M. Rohrbach, and Gabor Szinnai report that they have nothing to disclose. M. R. Baumgartner received a research fund from Nutricia Metabolics and is a member of the clinical advisory boards of Hemoshear and Moderna. J. Häberle has received a research grant from Nutricia Metabolics and is collaborating in research with Recordati Rare Diseases. S. Scholl-Bürgi has received travel support from Nutricia Metabolics. M. Huemer has received research grants from Nutricia Metabolics and consultancy honoraria from Aeglea, Nutricia Metabolics, Sanofi, Shire, SOBI, and Orphan Europe.

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Auteurs

Florin Bösch (F)

Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
Department of Psychosomatics and Psychiatry, and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
Division of Child and Adolescent Health Psychology, Department of Psychology, University of Zurich, Zurich, Switzerland.

Markus A Landolt (MA)

Department of Psychosomatics and Psychiatry, and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
Division of Child and Adolescent Health Psychology, Department of Psychology, University of Zurich, Zurich, Switzerland.

Matthias R Baumgartner (MR)

Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.

Susana Fernandez (S)

Department of Paediatric Gastroenterology and Nutrition, University Children's Hospital Basel, Basel, Switzerland.

Patrick Forny (P)

Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.

Matthias Gautschi (M)

Department of Pediatrics and Institute of Clinical Chemistry, Inselspital, University Hospital Bern, University of Bern, Bern, Switzerland.

Sarah C Grünert (SC)

Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.

Johannes Häberle (J)

Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.

Carolina Horvath (C)

Department of Psychosomatics and Psychiatry, and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
Division of Child and Adolescent Health Psychology, Department of Psychology, University of Zurich, Zurich, Switzerland.

Daniela Karall (D)

Medical University Innsbruck, Clinic for Pediatrics I, Inherited Metabolic Disorders, Innsbruck, Austria.

Danila Lampis (D)

Department of Paediatric Gastroenterology and Nutrition, University Children's Hospital Basel, Basel, Switzerland.

Marianne Rohrbach (M)

Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.

Sabine Scholl-Bürgi (S)

Medical University Innsbruck, Clinic for Pediatrics I, Inherited Metabolic Disorders, Innsbruck, Austria.

Gabor Szinnai (G)

Department of Paediatric Endocrinology and Diabetology, University Children's Hospital Basel, Basel, Switzerland.

Martina Huemer (M)

Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
Department of Paediatric Endocrinology and Diabetology, University Children's Hospital Basel, Basel, Switzerland.
Department of Paediatrics, LKH Bregenz, Bregenz, Austria.

Classifications MeSH