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Difficulties in Daily Life and Associated Factors, and QoL of Children with Inherited Metabolic Disease and Their Parents in Japan: A Literature Review

  • Keiko Yamaguchi
  • Rie Wakimizu
  • Mitsuru Kubota
Research Report
Part of the JIMD Reports book series (JIMD, volume 33)

Abstract

To assess the quality of life (QoL) of children in Japan with inborn errors of metabolism (IEM) as well as of their parents, we reviewed 23 previous studies published in Japanese and 1 published in English, focusing on the difficulties they encounter in daily life, the factors associated with these difficulties, and their QoL. We divided the difficulties and associated factors into three developmental stages. At the infant stage, individuals with IEM tend to be at high risk of hypercatabolism. Their parents suffered anxiety and distress because of the child’s diet therapy and regarded the parents’ support group as an essential presence, particularly given that IEM is a rare disease. At the school-age stage, as their sphere of social relationships expanded, children with IEM became nervous about being compared with healthy children of their own age because of their diet therapy. At the adolescence-to-adulthood stage, the children suffered medically, economically, and socially. Even in the absence of any IEM symptoms, the children’s QoL was affected by the demands associated with the metabolic disorder, such as diet and treatment. The psychological health of their caregivers was also poor. To improve the QoL of children with IEM and of their parents, future comprehensive quantitative and qualitative studies of their QoL and of their subjective support needs are required. Additionally, the specific factors related to the QoL of such individuals need to be explored in large population-based statistical studies.

Keywords

Food Allergy Diet Therapy Maple Syrup Urine Disease Maple Syrup Urine Disease GHQ30 Score 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Abbreviations

AA

Argininosuccinic aciduria

CD

Citrin deficiency

GA

Glutaric acidemia

HM

Hypermethioninemia

IA

Isovaleric acidemia

IEM

Inborn error of metabolism

MPS

Mucopolysaccharidosis

MSUD

Maple syrup urine disease

OA

Organic acidemia

PA

Propionic acidemia

PKU

Phenylketonuria

Notes

Acknowledgements

This study was supported by a research scholarship from the Pfizer Health Research Foundation 2015–2016 (principal investigator: Rie Wakimizu). The study was partially supported by the Practical Research Project for Rare/Intractable Diseases from the Japan Agency for Medical Research and Development (AMED). I would like to show my greatest appreciation to Flamina Miyamasu for her courteous English proofreading.

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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  1. 1.Department of Nursing Science Master’s ProgramGraduate School of Comprehensive Human Sciences, University of TsukubaTsukubaJapan
  2. 2.Faculty of Medicine, Division of Health Innovation and Nursing, Department of Child Health Care NursingUniversity of TsukubaTsukubaJapan
  3. 3.Department of General Pediatrics and Interdisciplinary MedicineNational Center for Child Health and DevelopmentTokyoJapan

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