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JIMD Reports, Volume 33 pp 1–10Cite as

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

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Part of the book series: JIMD Reports ((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.

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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

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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.

Author information

Authors and Affiliations

  1. Department of Nursing Science Master’s Program, Graduate School of Comprehensive Human Sciences, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki, 305-8575, Japan

    Keiko Yamaguchi

  2. Faculty of Medicine, Division of Health Innovation and Nursing, Department of Child Health Care Nursing, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki, 305-8575, Japan

    Rie Wakimizu

  3. Department of General Pediatrics and Interdisciplinary Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan

    Mitsuru Kubota

Authors
  1. Keiko Yamaguchi
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  2. Rie Wakimizu
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Corresponding author

Correspondence to Keiko Yamaguchi .

Editor information

Editors and Affiliations

  1. Tulane University Medical School, New Orleans, Louisiana, USA

    Eva Morava (Editor-in-Chief) (Editor-in-Chief)

  2. Division of Metabolism and Children’s Research Centre, University Children’s Hospital Zurich, Zurich, Switzerland

    Matthias Baumgartner

  3. Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, Minnesota, USA

    Marc Patterson

  4. Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK

    Shamima Rahman

  5. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  6. Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany

    Verena Peters (Managing Editor) (Managing Editor)

Additional information

Communicated by: Georg Hoffmann

Appendices

Take Home Message

Both children with IEM and their parents have various difficulties in daily life; therefore, their QoL and the factors associated with it should be studied to determine how the QoL can be improved.

The Third Page

The corresponding author confirms that this work has not been published or submitted elsewhere. This article does not deal with any studies with human or animal subjects performed by any of the authors. All coauthors have seen the final version of the article.

Compliance with Ethics Guidelines

Conflict of Interest

I, Keiko Yamaguchi, have no conflict of interest to declare.

Rie Wakimizu received a research scholarship from the Pfizer Health Research Foundation.

Mitsuru Kubota received a research grant from the Practical Research Project for Rare/Intractable Diseases from the Japan Agency for Medical Research and Development (AMED).

Details of the Contributions of Individual Authors

Keiko Yamaguchi planned this review article, drafted its concept and design, analyzed the contents of each eligible article, and had a central role in writing it.

Rie Wakimizu provided advice concerning the review’s conception, design, and analysis, and also contributed to the revising of the draft as a professional researcher of child health nursing.

Mitsuru Kubota provided advice concerning the review’s conception, design, and analysis, and also contributed to the revising of the draft as a clinical specialist of IEM.

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Yamaguchi, K., Wakimizu, R., Kubota, M. (2016). Difficulties in Daily Life and Associated Factors, and QoL of Children with Inherited Metabolic Disease and Their Parents in Japan: A Literature Review. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 33. JIMD Reports, vol 33. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2016_573

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  • DOI: https://doi.org/10.1007/8904_2016_573

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  • Print ISBN: 978-3-662-55011-3

  • Online ISBN: 978-3-662-55012-0

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