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Abstract

Introduction: No publications describe the health related quality of life (HRQL) in children with chromosomal abnormalities and congenital heart disease (CHD). Hypothesis: We hypothesized that children with chromosomal abnormalities will have lower HRQL scores compared to the normative population, and a matched cohort with the same CHD diagnosis. Methods: Prospective cohort study including infants with chromosomal abnormalities having cardiac surgery at <6 weeks of age (n=21) between July 200 and June 2005 at the Stollery Children’s Hospital. Patients who required extra-corporeal life support or heart transplant were excluded (n=3). HRQL was assessed at age 4 years using the PedsQLTM 4.0 Generic Core Scales, and compared with matched (by type of CHD) children who underwent cardiac surgery in infancy without chromosomal abnormalities and normative values for the same age. Results: Two children were lost to follow-up. Of the remaining 16, 9 had deletion 22q11.2, 2 Down syndrome, 1 Turner’s syndrome, 2 1q21.1 deletion, 1 Cri du chat syndrome, 1 Cat eye syndrome. Compared to the matched children without chromosomal abnormalities, children with chromosomal abnormalities had significantly lower median Total PedsQLTM (75.0 vs. 84.6; p=0.03), Physical Summary scores (79.5 vs. 96.9; p=0.007), and School Functioning (68.5 vs. 83.0; p=0.037). The lower Psychosocial Summary (72.0 vs. 79.0; p=0.205) and Emotional Functioning (75.0 vs. 85.0; p=0.447) scores were not statistically significant. Social Functioning scores (77.5 vs. 75.0; p=0.57) were similar. Compared to normative data, children with chromosomal abnormalities and CHD had significantly lower mean Total PedsQLTM (71.3 vs. 87.3; p< 0.0001), Psychosocial Summary (70.3 vs. 86.1; p<0.0001), Physical Summary (74.3 vs. 89.2; p=0.0006), Social Functioning (74.0 vs. 87.7; p=0.001), School Functioning (61.4 vs. 85.4; p<0.0001), and Emotional Functioning (75.0 vs. 84.7; p=0.006) scores. Conclusions: HRQL was lower in children with chromosomal abnormalities compared to matched children with the same CHD without chromosomal abnormalities, and to a normative population.