{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T14:16:08Z","timestamp":1791728168335,"version":"4.3.4"},"reference-count":34,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,9,22]],"date-time":"2020-09-22T00:00:00Z","timestamp":1600732800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001720","name":"Nutricia Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001720","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008494","name":"Vontobel-Stiftung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008494","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Acute intoxication\u2010type inborn errors of metabolism (IT\u2010IEM) such as urea cycle disorders and non\u2010acute IT\u2010IEM 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 \u2013 in acute diseases \u2013 metabolic decompensations nevertheless. Research on the subjective burden of IT\u2010IEM remains sparse. Studies with appropriate sample sizes are needed to make valid statements about health\u2010related quality of life (HrQoL) in children and adolescents with IT\u2010IEM. Six international metabolic centres contributed self\u2010reports 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\u201018.8\u2009years). To compare HrQoL of the patient sample with norm data and between acute and non\u2010acute IT\u2010IEM,\n                    <jats:italic>t<\/jats:italic>\n                    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\u2010reports and proxy reporst showed significantly lower HrQoL total scores for children with IT\u2010IEM compared to healthy children. Current dietary treatment significantly predicted lower proxy reported total HrQoL. Children with non\u2010acute IT\u2010IEM reported significantly lower psychosocial health and emotional functioning than children with acute IT\u2010IEM. 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\u2010acute IT\u2010IEM 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.\n                  <\/jats:p>","DOI":"10.1002\/jimd.12301","type":"journal-article","created":{"date-parts":[[2020,8,12]],"date-time":"2020-08-12T10:06:46Z","timestamp":1597226806000},"page":"215-225","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Health\u2010related quality of life in paediatric patients with intoxication\u2010type inborn errors of metabolism: Analysis of an international data set"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6130-5006","authenticated-orcid":false,"given":"Florin","family":"B\u00f6sch","sequence":"first","affiliation":[{"name":"Division of Metabolism, Children's Research Center University Children's Hospital  Zurich Switzerland"},{"name":"Department of Psychosomatics and Psychiatry, Children's Research Center University Children's Hospital  Zurich Switzerland"},{"name":"Division of Child and Adolescent Health Psychology, Department of Psychology University of Zurich  Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0760-5558","authenticated-orcid":false,"given":"Markus A.","family":"Landolt","sequence":"additional","affiliation":[{"name":"Department of Psychosomatics and Psychiatry, Children's Research Center University Children's Hospital  Zurich Switzerland"},{"name":"Division of Child and Adolescent Health Psychology, Department of Psychology University of Zurich  Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9270-0826","authenticated-orcid":false,"given":"Matthias R.","family":"Baumgartner","sequence":"additional","affiliation":[{"name":"Division of Metabolism, Children's Research Center University Children's Hospital  Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7327-9992","authenticated-orcid":false,"given":"Nina","family":"Zeltner","sequence":"additional","affiliation":[{"name":"Division of Metabolism, Children's Research Center University Children's Hospital  Zurich Switzerland"},{"name":"Department of Psychosomatics and Psychiatry, Children's Research Center University Children's Hospital  Zurich Switzerland"},{"name":"Division of Child and Adolescent Health Psychology, Department of Psychology University of Zurich  Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5188-9477","authenticated-orcid":false,"given":"Stefan","family":"K\u00f6lker","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine University Hospital Heidelberg  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian","family":"Gleich","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine University Hospital Heidelberg  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7724-137X","authenticated-orcid":false,"given":"Alberto","family":"Burlina","sequence":"additional","affiliation":[{"name":"Division of Inborn Metabolic Disease, Department of Pediatrics University Hospital Padua  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Cazzorla","sequence":"additional","affiliation":[{"name":"Division of Inborn Metabolic Disease, Department of Pediatrics University Hospital Padua  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy","family":"Packman","sequence":"additional","affiliation":[{"name":"Pacific Graduate School of Psychology Palo Alto University  Palo Alto California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7933-6687","authenticated-orcid":false,"given":"Ida","family":"V. 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