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Bösch F, Landolt MA, Baumgartner MR, et al. Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: Analysis of an international data set. J Inherit Metab Dis. 2020;44(1):215-225doi: 10.1002/jimd.12301.
Bösch, F., Landolt, M. A., Baumgartner, M. R., Zeltner, N., Kölker, S., Gleich, F., Burlina, A., Cazzorla, C., Packman, W., V D Schwartz, I., Vieira Neto, E., Ribeiro, M. G., Martinelli, D., Olivieri, G., & Huemer, M. (2021). Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: Analysis of an international data set. Journal of inherited metabolic disease, 44(1), 215-225. https://doi.org/10.1002/jimd.12301
Bösch, Florin, et al. "Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: Analysis of an international data set." Journal of inherited metabolic disease vol. 44,1 (2021): 215-225. doi: https://doi.org/10.1002/jimd.12301
Bösch F, Landolt MA, Baumgartner MR, Zeltner N, Kölker S, Gleich F, Burlina A, Cazzorla C, Packman W, V D Schwartz I, Vieira Neto E, Ribeiro MG, Martinelli D, Olivieri G, Huemer M. Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: Analysis of an international data set. J Inherit Metab Dis. 2021 Jan;44(1):215-225. doi: 10.1002/jimd.12301. Epub 2020 Sep 22. PMID: 32785952.
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J Inherit Metab Dis. 2021 Jan;44(1):215-225. doi: 10.1002/jimd.12301. Epub 2020 Sep 22.

Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: Analysis of an international data set.

Journal of inherited metabolic disease

Florin Bösch, Markus A Landolt, Matthias R Baumgartner, Nina Zeltner, Stefan Kölker, Florian Gleich, Alberto Burlina, Chiara Cazzorla, Wendy Packman, Ida V D Schwartz, Eduardo Vieira Neto, Márcia G Ribeiro, Diego Martinelli, Giorgia Olivieri, Martina Huemer

Affiliations

  1. Division of Metabolism, Children's Research Center, University Children's Hospital, Zurich, Switzerland.
  2. Department of Psychosomatics and Psychiatry, Children's Research Center, University Children's Hospital, Zurich, Switzerland.
  3. Division of Child and Adolescent Health Psychology, Department of Psychology, University of Zurich, Zurich, Switzerland.
  4. Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  5. Division of Inborn Metabolic Disease, Department of Pediatrics, University Hospital Padua, Padova, Italy.
  6. Pacific Graduate School of Psychology, Palo Alto University, Palo Alto, California, USA.
  7. Department of Genetics, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.
  8. Institute of Childcare and Pediatrics Martagão Gesteira, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
  9. Division of Metabolism, Department of Pediatrics, Bambino Gesù Children's Hospital, Rome, Italy.
  10. Department of Paediatrics, Bregenz, Austria.

PMID: 32785952 DOI: 10.1002/jimd.12301

Abstract

Acute intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders and non-acute IT-IEM such as phenylketonuria have a major impact on paediatric patients' life. Patients have to adhere to a strict diet but may face neurocognitive impairment and - in acute diseases - metabolic decompensations nevertheless. Research on the subjective burden of IT-IEM remains sparse. Studies with appropriate sample sizes are needed to make valid statements about health-related quality of life (HrQoL) in children and adolescents with IT-IEM. Six international metabolic centres contributed self-reports and proxy reports of HrQoL (assessed with the Paediatric Quality of Life Inventory) to the final data set (n = 251 patients; age range 2.3-18.8 years). To compare HrQoL of the patient sample with norm data and between acute and non-acute IT-IEM, t tests were conducted. To examine the influence of child age, sex, diagnosis and current dietary treatment on HrQoL, multiple linear regression analyses were conducted. Self-reports and proxy reporst showed significantly lower HrQoL total scores for children with IT-IEM compared to healthy children. Current dietary treatment significantly predicted lower proxy reported total HrQoL. Children with non-acute IT-IEM reported significantly lower psychosocial health and emotional functioning than children with acute IT-IEM. The patient sample showed significantly impaired HrQoL and a diet regimen remains a risk factor for lower HrQoL. Differences in HrQoL between acute and non-acute IT-IEM subgroups indicate that factors beyond symptom severity determine the perception of disease burden. Identifying these factors is of crucial importance to develop and implement appropriate interventions for those in need.

© 2020 SSIEM.

Keywords: health-related quality of life; inborn errors of metabolism; inherited metabolic diseases; maple syrup urine disease; organic acidurias; phenylketonuria; urea cycle disorders

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