{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T19:43:23Z","timestamp":1791315803012,"version":"4.3.1"},"reference-count":27,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,10,30]],"date-time":"2017-10-30T00:00:00Z","timestamp":1509321600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Paediatrics Child Health"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>The 22q11.2 deletion syndrome (<jats:styled-content style=\"fixed-case\">22qDS<\/jats:styled-content>) is a genetic syndrome that results in a complex physical, behavioural and psychological phenotype. Health\u2010related quality of life (<jats:styled-content style=\"fixed-case\">HRQOL<\/jats:styled-content>) is an established clinical outcome that has been minimally studied in children with <jats:styled-content style=\"fixed-case\">22qDS<\/jats:styled-content>. The purpose of this study was to explore <jats:styled-content style=\"fixed-case\">HRQOL<\/jats:styled-content> among children and adolescents with <jats:styled-content style=\"fixed-case\">22qDS<\/jats:styled-content> from the perspective of the child and to determine how their <jats:styled-content style=\"fixed-case\">HRQOL<\/jats:styled-content> measures compare to those of a healthy peer group and a chronic disease peer group.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We recruited individuals between the ages of 8 and 18 with a positive genetic diagnosis of <jats:styled-content style=\"fixed-case\">22qDS<\/jats:styled-content> (<jats:italic>n<\/jats:italic>\u2009=\u200928) and a parent of the child. Participants completed the paired Paediatric Quality of Life Inventory 4.0 questionnaires. Comparisons were made with a previous study of healthy and diseased children.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Children with <jats:styled-content style=\"fixed-case\">22qDS<\/jats:styled-content> had a significantly poorer <jats:styled-content style=\"fixed-case\">HRQOL<\/jats:styled-content> when compared to age\u2010matched cohorts of healthy children and children with chronic disease. Within the study, there was variable proxy\u2010self agreement, and children with <jats:styled-content style=\"fixed-case\">22qDS<\/jats:styled-content> reported lower <jats:styled-content style=\"fixed-case\">HRQOL<\/jats:styled-content> than adolescents with <jats:styled-content style=\"fixed-case\">22qDS<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study is the first to explore <jats:styled-content style=\"fixed-case\">HRQOL<\/jats:styled-content> from the perspective of the child with <jats:styled-content style=\"fixed-case\">22qDS<\/jats:styled-content>, and our findings support the existing literature that this condition is associated with a poor <jats:styled-content style=\"fixed-case\">HRQOL<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jpc.13746","type":"journal-article","created":{"date-parts":[[2017,10,30]],"date-time":"2017-10-30T12:22:34Z","timestamp":1509366154000},"page":"311-315","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Health\u2010related quality of life in 22q11.2 deletion syndrome: The child's perspective"],"prefix":"10.1111","volume":"54","author":[{"given":"Patrick","family":"Joyce","sequence":"first","affiliation":[{"name":"Mater Research Institute University of Queensland  Brisbane Queensland Australia"},{"name":"Department of Child and Adolescent Health Sunshine Coast University Hospital  Sunshine Coast Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"O'Rourke","sequence":"additional","affiliation":[{"name":"Mater Research Institute University of Queensland  Brisbane Queensland 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