Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents.

Autor: Zeltner NA; Division of Metabolism, University Children's Hospital Zurich, Zurich, Switzerland.; Department of Psychosomatics and Psychiatry, University Children's Hospital Zurich, Zurich, Switzerland.; Children's Research Center, Zurich, Switzerland.; Department of Psychology, Division of Child and Adolescent Health Psychology, University of Zurich, Zurich, Switzerland., Welsink-Karssies MM; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam UMC - location AMC, Amsterdam, The Netherlands., Landolt MA; Department of Psychosomatics and Psychiatry, University Children's Hospital Zurich, Zurich, Switzerland.; Children's Research Center, Zurich, Switzerland.; Department of Psychology, Division of Child and Adolescent Health Psychology, University of Zurich, Zurich, Switzerland., Bosshard-Bullinger D; Division of Metabolism, University Children's Hospital Zurich, Zurich, Switzerland.; Department of Psychosomatics and Psychiatry, University Children's Hospital Zurich, Zurich, Switzerland.; Children's Research Center, Zurich, Switzerland.; Department of Psychology, Division of Child and Adolescent Health Psychology, University of Zurich, Zurich, Switzerland., Keller F; Division of Metabolism, University Children's Hospital Zurich, Zurich, Switzerland.; Department of Psychosomatics and Psychiatry, University Children's Hospital Zurich, Zurich, Switzerland.; Children's Research Center, Zurich, Switzerland.; Department of Psychology, Division of Child and Adolescent Health Psychology, University of Zurich, Zurich, Switzerland., Bosch AM; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam UMC - location AMC, Amsterdam, The Netherlands., Groenendijk M; Stichting Stofwisselkracht, Haarlem, the Netherlands., Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany., Karall D; Clinic for Pediatrics, Medical University of Innsbruck, Innsbruck, Austria., Rettenbacher B; Weiberwirtschaft - Konzept und Gestaltung, Innsbruck, Austria., Scholl-Bürgi S; Clinic for Pediatrics, Medical University of Innsbruck, Innsbruck, Austria., Baumgartner MR; Division of Metabolism, University Children's Hospital Zurich, Zurich, Switzerland.; Children's Research Center, Zurich, Switzerland., Huemer M; Division of Metabolism, University Children's Hospital Zurich, Zurich, Switzerland. martina.huemer@kispi.uzh.ch.; Children's Research Center, Zurich, Switzerland. martina.huemer@kispi.uzh.ch.; Department of Paediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria. martina.huemer@kispi.uzh.ch.
Jazyk: angličtina
Zdroj: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Nov 08; Vol. 14 (1), pp. 248. Date of Electronic Publication: 2019 Nov 08.
DOI: 10.1186/s13023-019-1236-9
Abstrakt: Background: Inborn errors of metabolism (IEM) are a group of rare, heterogeneous and complex genetic conditions. Clinically, IEM often affect the central nervous system and other organs. Some carry the risk of progression and / or potentially life-threatening crises. Many patients have to adhere to lifelong dietary or drug treatment. The complexity of IEM makes it difficult for patients and caregivers to understand their pathophysiology, inheritance and therapy rationale. Especially patients reaching adolescence may have only limited knowledge of their condition since medical care has often entirely been handled by their parents. Knowledge about disease and treatment, however, constitute pillars of self-responsible disease management. Not many standardized patient education materials on IEM are available and their comprehensibility has not been systematically investigated.
Methods: We developed and tested patient education materials for school-aged children and adolescents with IEM. Informative texts and illustrations in paper form and as videos were developed by an international network of metabolic care professionals together with a graphic artist and experts for easy-to-read language. The materials were presented in standardized single or group training sessions to 111 individuals; first, to 74 healthy children and adolescents (recruited via public schools) and consecutively to 37 paediatric patients with IEM (phenylketonuria, galactosemia, urea cycle defects, lysosomal storage disorders) from six metabolic centres. Knowledge-gain was assessed by pre- and post-testing.
Results: Knowledge-gain was significant in healthy children and adolescents as well as in patients (p < .001, r =. -77 /. -70). Effect sizes were large in both groups (r = -.77 / -.70). This result was independent from family language and teacher-rated concentration or cognitive capacity in healthy children.
Conclusion: The newly developed patient education materials are a powerful tool to improve disease- and treatment-related knowledge. They facilitate communication between the medical team and children and adolescents with IEM and their caregivers.
Databáze: MEDLINE
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