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

Abstract

BackgroundInborn 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.MethodsWe 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.ResultsKnowledge-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.ConclusionThe 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.

Inborn errors of metabolism in the United Arab Emirates: Are our future healthcare providers knowing enough about it—A crosssectional study

“…Simultaneously, the need of the hour is to focus on the target population, mainly the young adults like secondary schools and university students, because their knowledge and attitude towards health education will help prevent consanguineous marriages. It might reduce IEM in the community (Alotaibi and Irfan, 2017;Zeltner et al, 2019).…”

“…A pre-and poststudy carried out in Switzerland to develop and test specifically structured, comprehensible medical information on IEM for school-aged patients and their caregivers showed a higher percentage of knowledge gain in the posttest than in the pretest. Comprehensive knowledge about the disease will facilitate communication between the patient and the medical care team, thereby enhancing patient safety, outcome, attitude towards the care team, and quality of life (Zeltner et al, 2019). In another survey-based study in Hong Kong, assessing healthcare professions' knowledge and opinions on IEM identified significant knowledge gaps among the clinicians.…”

A Community-Based Participatory Framework to Co-Develop Patient Education Materials (PEMs) for Rare Diseases: A Model Transferable across Diseases

“…The conducted literature review showed that common diseases had more publications (n = 34) dedicated to frameworks that create PEMs, when compared with rare diseases (n = 3) [51,64,65]. This reveals that there is an overall lack of user-friendly information across all diseases, and it is an area with a significant growth potential in the upcoming years.…”

“…This reveals that there is an overall lack of user-friendly information across all diseases, and it is an area with a significant growth potential in the upcoming years. In terms of information, regarding the three articles focusing on developing PEMs to improve family's health knowledge, decision-making skills, and clinical outcomes, they all described a patient-centric framework for rare diseases, emphasizing the importance of the involvement of the community [51,64,65].…”

Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction

“…Some respondents were unable to name their disease or to provide information about parameters critical for clinical decision making such as their plasma homocysteine values. Standardised, valid education materials for patients with inborn metabolic diseases have recently been developed [ 17 ] and are helpful for medical professionals and patients. Written information about CBS deficiency and RMDs is available in most European languages on http://www.e-hod.org .…”