Health-related quality of life in 22q11.2 deletion syndrome: The child's perspective

Journal of Paediatrics and Child Health
Patrick JoyceHelen Heussler

Abstract

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 a...Continue Reading

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Citations

Nov 23, 2020·International Journal of Paediatric Dentistry·Deborah H WongDavid J Manton
Jun 12, 2021·European Child & Adolescent Psychiatry·Kris Van de WoestyneAnn Swillen
Jul 3, 2021·Advances in Therapy·Elena W Y HsiehCathleen Collins

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22q11 Deletion Syndrome

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused by a partial deletion of chromosome 22. Symptoms include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development. Discover the latest research on this disease here.