Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus
Abstract Background Acute intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders and non-acute IT-IEM such as phenylketonuria (PKU) and their treatment have a major impact on the life of affected children and families. Yet patients’ and parents’ perspectives on the burde...
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| Format: | Article |
| Language: | English |
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BMC
2022-01-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-022-02183-2 |
| _version_ | 1819281588409597952 |
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| author | Florin Bösch Nina A. Zeltner Matthias R. Baumgartner Martina Huemer Markus A. Landolt |
| author_facet | Florin Bösch Nina A. Zeltner Matthias R. Baumgartner Martina Huemer Markus A. Landolt |
| author_sort | Florin Bösch |
| collection | DOAJ |
| description | Abstract Background Acute intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders and non-acute IT-IEM such as phenylketonuria (PKU) and their treatment have a major impact on the life of affected children and families. Yet patients’ and parents’ perspectives on the burdens of IT-IEM and its effects on everyday functioning and well-being have rarely been addressed. Patient- and observer-reported outcomes (PROs/ObsROs) are critically important to evaluate and target health care and treatment efficacy. Therefore, it is mandatory to define PROs/ObsROs relevant to patients with IT-IEM, their families, and health care professionals and to provide valid, standardised and reliable measuring instruments. To achieve consensus we performed a two-round, electronic-based modification of a Delphi survey including 27 parents of affected children, nine teenage patients and 35 health professionals (physicians, nutritionists, psychologists). The final set of PROs/ObsROs was discussed and defined in an online consensus meeting with a subsample of three health professionals, three parents and two patients. For this final set, appropriate measures (PROMs/ObsROMs) were assembled. Results Seventeen PROs/ObsROs constitute the final core set for paediatric IT-IEM. They cover social (e.g. social participation), emotional (e.g. positive affect), and disease-related aspects (e.g. attitude towards treatment) of patients’ lives as well as the experience of parents (e.g. parental stress). Conclusion To promote a holistic treatment approach, this consensus-driven set of relevant PROs/ObsROs should be incorporated into daily IT-IEM care and considered as the key psychological outcomes in clinical trials. We have identified existing—psychometrically and contextual—appropriate PROMs/ObsROMs with open access to facilitate this process. |
| first_indexed | 2024-12-24T01:02:05Z |
| format | Article |
| id | doaj.art-472e0454a7314154b41b4684e310c3b2 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-24T01:02:05Z |
| publishDate | 2022-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-472e0454a7314154b41b4684e310c3b22022-12-21T17:23:21ZengBMCOrphanet Journal of Rare Diseases1750-11722022-01-011711910.1186/s13023-022-02183-2Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensusFlorin Bösch0Nina A. Zeltner1Matthias R. Baumgartner2Martina Huemer3Markus A. Landolt4Division of Metabolism and Children’s Research Center, University Children’s Hospital Zurich, University of ZurichDivision of Metabolism and Children’s Research Center, University Children’s Hospital Zurich, University of ZurichDivision of Metabolism and Children’s Research Center, University Children’s Hospital Zurich, University of ZurichDivision of Metabolism and Children’s Research Center, University Children’s Hospital Zurich, University of ZurichDepartment of Psychosomatics and Psychiatry, and Children’s Research Center, University Children’s Hospital Zurich, University of ZurichAbstract Background Acute intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders and non-acute IT-IEM such as phenylketonuria (PKU) and their treatment have a major impact on the life of affected children and families. Yet patients’ and parents’ perspectives on the burdens of IT-IEM and its effects on everyday functioning and well-being have rarely been addressed. Patient- and observer-reported outcomes (PROs/ObsROs) are critically important to evaluate and target health care and treatment efficacy. Therefore, it is mandatory to define PROs/ObsROs relevant to patients with IT-IEM, their families, and health care professionals and to provide valid, standardised and reliable measuring instruments. To achieve consensus we performed a two-round, electronic-based modification of a Delphi survey including 27 parents of affected children, nine teenage patients and 35 health professionals (physicians, nutritionists, psychologists). The final set of PROs/ObsROs was discussed and defined in an online consensus meeting with a subsample of three health professionals, three parents and two patients. For this final set, appropriate measures (PROMs/ObsROMs) were assembled. Results Seventeen PROs/ObsROs constitute the final core set for paediatric IT-IEM. They cover social (e.g. social participation), emotional (e.g. positive affect), and disease-related aspects (e.g. attitude towards treatment) of patients’ lives as well as the experience of parents (e.g. parental stress). Conclusion To promote a holistic treatment approach, this consensus-driven set of relevant PROs/ObsROs should be incorporated into daily IT-IEM care and considered as the key psychological outcomes in clinical trials. We have identified existing—psychometrically and contextual—appropriate PROMs/ObsROMs with open access to facilitate this process.https://doi.org/10.1186/s13023-022-02183-2Patient-reported outcomesPROsPatient-reported outcome measuresPROMsInborn errors of metabolismRare metabolic diseases |
| spellingShingle | Florin Bösch Nina A. Zeltner Matthias R. Baumgartner Martina Huemer Markus A. Landolt Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus Orphanet Journal of Rare Diseases Patient-reported outcomes PROs Patient-reported outcome measures PROMs Inborn errors of metabolism Rare metabolic diseases |
| title | Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus |
| title_full | Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus |
| title_fullStr | Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus |
| title_full_unstemmed | Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus |
| title_short | Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus |
| title_sort | key patient reported outcomes in children and adolescents with intoxication type inborn errors of metabolism an international delphi based consensus |
| topic | Patient-reported outcomes PROs Patient-reported outcome measures PROMs Inborn errors of metabolism Rare metabolic diseases |
| url | https://doi.org/10.1186/s13023-022-02183-2 |
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