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

Nina A. Zeltner, Mendy M. Welsink-Karssies, Markus A. Landolt, Dominique Bosshard-Bullinger, Fabia Keller, Annet M. Bosch, Marike Groenendijk, Sarah C. Grünert, Daniela Karall, Beatrix Rettenbacher, Sabine Scholl-Bürgi, Matthias R. Baumgartner & Martina Huemer, Orphanet J Rare Dis 14, 248 (2019) doi:10.1186/s13023-019-1236-9

Medical jargon and incomprehensive disease information constitute a barrier to informed and shared decision-making. Over 80% of the study participants indicated that they liked the materials and appreciated them as an indicator of a respectful approach of care. Facilitated communication between patient and metabolic care team may not only enhance patients’ safety, outcome, attitude towards the care team and quality of life but does significantly reduce the workload of metabolic professionals due to increased independence of patients and families. Involvement of parents in teaching sessions and provision of the materials enables parents to explain the contents repeatedly to their child at home and to involve siblings, other family members or external caregivers to gain social support.


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