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A holistic approach to the patients/Families with inborn errors of metabolism Cover

A holistic approach to the patients/Families with inborn errors of metabolism

Journal of Mother and Child
Volume 24 (2020): Issue 2 (June 2020)
By: Peter Burgard  
Open Access
|Oct 2020

Figures & Tables

Figure 1

Prototypical team of healthcare professionals for patients with Inborn Metabolic Diseases.
Prototypical team of healthcare professionals for patients with Inborn Metabolic Diseases.

Ten elements (subsystems) of a holistic approach to IEM

Element/subsystemDiagnosisTreatmentCare
1Metabolic disorderGenes Enzymes Metabolites Organs (e.g. brain, liver, kidney) OutcomesDiet Drugs Enzymes Genes Behavioural measures (e.g. eating at night, writing food protocols)Metabolic monitoring Clinical monitoring
2aPatientEarly, late onset subtypes SeverityWhat, how much, how longWhere, what
2bPersonUnderstanding the conditionApplication of treatment recommenda- tions in everyday life (compliance, adherence)Coping with the condition in everyday life Support Social relations
3FamilyUnderstanding the condition Genetic counselingApplication of treatment recommendations in everyday life (compliance, adherence)Technical, emotional, social, informational support Social relations
4Health Care ProfessionalsBiochemistryPediatric and adult metabolic specialists Dietetics NutritionistsClinical medicine Psychology Social work Physiotherapy Occupational therapy Empowerment by professionals
5Patient advocacy groupsRole models for coping and outcomes at different agesExchange of tips and tricks for everyday managementSocial, informative, political support, Empowerment by peers
6Technical devicesLaboratory methodsMonitoring systemsAids and tools
7ScienceEtiology Pathomechanism Basic researchNew treatments Clinical research on long-term outcomeGuidelines and standards Professional training
8Legal constraintsNewborn screening programs Whole exome/genome sequencingRegulations for reimbursementSocial legislation (e.g. inclusion of handicapped people, financial support) Transition politics
9Economic aspectsCost-effectivenessCost-effectiveness Additional costs for patients and familiesCost-effectiveness
10IndustriesInnovations of diagnostic technologyNew treatments and productsWritten and electronic information Sponsured conferences
DOI: https://doi.org/10.34763/jmotherandchild.20202402si.2004.000010 | Journal eISSN: 2719-535X | Journal ISSN: 2719-6488
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Language: English
Page range: 65 - 72
Published on: Oct 2, 2020
Published by: Institute of Mother and Child
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
Keywords:
health care organization,
integrative medicine,
systems integration,
inborn errors of metabolism
Related subjects:
Medicine,
Clinical medicine,
Pediatrics and juvenile medicine,
Paediatric haematology and oncology,
Public health

© 2020 Peter Burgard, published by Institute of Mother and Child
This work is licensed under the Creative Commons Attribution 4.0 License.

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