{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:47:56Z","timestamp":1786978076653,"version":"build-2736575974"},"reference-count":33,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,7,9]],"date-time":"2024-07-09T00:00:00Z","timestamp":1720483200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004339","name":"Sanofi","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004339","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":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Genetic disorders pose great challenges for affected individuals and their families, as they must cope with the irreversible nature of the disease and a life\u2010long dependence on medical assistance and treatment. Children and adolescents dealing with Pompe disease (PD) often struggle to keep up with their peers in physical activities. To gain valuable insights into their subjective experiences and better understand their perception and coping related to daily challenges linked to their condition and treatment, the use of standardized questionnaires is crucial. This study introduces the novel PompeQoL 1.0 questionnaire for children and adolescents with PD, designed for comprehensive assessment of both disease\u2010specific FDH and HRQoL through self\u2010 and proxy reports. Content validity was ensured through patients' and parents' involvement at the initial stages of development and in subsequent cognitive debriefing process. Participants found the questionnaire easy to understand, answerable, relevant, and comprehensive. Adjustments based on feedback from patients and their parents improved its utility as a patient\u2010 and observer\u2010reported outcome measure. After careful item examination, 52 items were selected, demonstrating moderate to excellent test\u2013retest reliability for most scales and initial evidence for satisfactory construct validity. The PompeQoL questionnaire stands as a valuable screening instrument for both clinical and research purposes. Future research should prioritize additional revisions and larger validation studies, focusing on testing the questionnaire in clinical practice and trials. Nevertheless, the PompeQoL 1.0 stands out as the first standardized measure providing insights into disease\u2010specific FDH and HRQoL among children and adolescents with various forms of PD.<\/jats:p>","DOI":"10.1002\/jimd.12777","type":"journal-article","created":{"date-parts":[[2024,7,9]],"date-time":"2024-07-09T07:02:08Z","timestamp":1720508528000},"page":"1348-1362","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["The\n                    <scp>PompeQoL<\/scp>\n                    questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease"],"prefix":"10.1002","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6724-5019","authenticated-orcid":false,"given":"Moritz Ilan","family":"Truninger","sequence":"first","affiliation":[{"name":"Division of Metabolism, Children's Research Centre University Children's Hospital Zurich, University of Zurich  Zurich Switzerland"},{"name":"Department of Psychosomatics and Psychiatry University Children's Hospital Zurich  Zurich Switzerland"},{"name":"Division of Child and Adolescent Health Psychology, Institute of Psychology University of Zurich  Z\u00fcrich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7081-7695","authenticated-orcid":false,"given":"Helene","family":"Werner","sequence":"additional","affiliation":[{"name":"Division of Metabolism, Children's Research Centre University Children's Hospital Zurich, University of Zurich  Zurich Switzerland"},{"name":"Department of Psychosomatics and Psychiatry University Children's Hospital Zurich  Zurich Switzerland"},{"name":"Division of Child and Adolescent Health Psychology, Institute of Psychology University of Zurich  Z\u00fcrich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0760-5558","authenticated-orcid":false,"given":"Markus Andreas","family":"Landolt","sequence":"additional","affiliation":[{"name":"Department of Psychosomatics and Psychiatry University Children's Hospital Zurich  Zurich Switzerland"},{"name":"Division of Child and Adolescent Health Psychology, Institute of Psychology University of Zurich  Z\u00fcrich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Hahn","sequence":"additional","affiliation":[{"name":"Department of Child Neurology Justus\u2010Liebig\u2010University Gie\u00dfen  Gie\u00dfen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia B.","family":"Hennermann","sequence":"additional","affiliation":[{"name":"Villa Metabolica, Center for Pediatric and Adolescent Medicine University Medical Center Mainz  Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian B.","family":"Lagler","sequence":"additional","affiliation":[{"name":"Institute for Inherited Metabolic Diseases and Department of Pediatrics Paracelsus Medical University Salzburg  Salzburg Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorothea","family":"M\u00f6slinger","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine Medical University of Vienna  Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Pfrimmer","sequence":"additional","affiliation":[{"name":"Department of Child Neurology Justus\u2010Liebig\u2010University Gie\u00dfen  Gie\u00dfen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"Rohrbach","sequence":"additional","affiliation":[{"name":"Division of Metabolism, Children's Research Centre University Children's Hospital Zurich, University of Zurich  Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0590-678X","authenticated-orcid":false,"given":"Martina","family":"Huemer","sequence":"additional","affiliation":[{"name":"Division of Metabolism, Children's Research Centre University Children's Hospital Zurich, University of Zurich  Zurich Switzerland"},{"name":"Department of Paediatrics LKH Bregenz  Bregenz Austria"},{"name":"Competence Area Healthcare and Nursing Vorarlberg University of Applied Sciences  Dornbirn Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,7,9]]},"reference":[{"key":"e_1_2_12_2_1","unstructured":"Online Mendelian Inheritance in Man OMIM\u00ae.MIM Number: OMIM#232300: 2023.12.08. 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