Joyce Patrick, O'Rourke Claudia, McDermott Brett, Heussler Helen
Mater Research Institute, University of Queensland, Brisbane, Queensland, Australia.
Department of Child and Adolescent Health, Sunshine Coast University Hospital, Sunshine Coast, Queensland, Australia.
J Paediatr Child Health. 2018 Mar;54(3):311-315. doi: 10.1111/jpc.13746. Epub 2017 Oct 30.
The 22q11.2 deletion syndrome (22qDS) is a genetic syndrome that results in a complex physical, behavioural and psychological phenotype. Health-related quality of life (HRQOL) is an established clinical outcome that has been minimally studied in children with 22qDS. The purpose of this study was to explore HRQOL among children and adolescents with 22qDS from the perspective of the child and to determine how their HRQOL measures compare to those of a healthy peer group and a chronic disease peer group.
We recruited individuals between the ages of 8 and 18 with a positive genetic diagnosis of 22qDS (n = 28) 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.
Children with 22qDS had a significantly poorer HRQOL when compared to age-matched cohorts of healthy children and children with chronic disease. Within the study, there was variable proxy-self agreement, and children with 22qDS reported lower HRQOL than adolescents with 22qDS.
This study is the first to explore HRQOL from the perspective of the child with 22qDS, and our findings support the existing literature that this condition is associated with a poor HRQOL.
22q11.2缺失综合征（22qDS）是一种导致复杂身体、行为和心理表型的遗传综合征。健康相关生活质量（HRQOL）是一种既定的临床结局，在22qDS儿童中对此研究极少。本研究的目的是从儿童角度探索22qDS儿童及青少年的健康相关生活质量，并确定他们的健康相关生活质量测量结果与健康同龄人群体和慢性病同龄人群体相比如何。
我们招募了年龄在8至18岁之间、经基因诊断确诊为阳性的22qDS个体（n = 28）及其一位家长。参与者完成了配对的儿童生活质量量表4.0问卷。与之前一项关于健康和患病儿童的研究进行了比较。
与年龄匹配的健康儿童和慢性病儿童队列相比，22qDS儿童的健康相关生活质量显著更差。在研究中，代理-自我一致性存在差异，22qDS儿童报告的健康相关生活质量低于22qDS青少年。
本研究首次从22qDS儿童角度探索健康相关生活质量，我们的研究结果支持现有文献中该病症与较差的健康相关生活质量相关的观点。
