Quality of life and sociodemographic characterisation of Sri Lankan children with Trisomy 21: A case control study

Background

Trisomy 21 is the most common chromosomal abnormality and the most frequent genetic cause of developmental delay and intellectual disability (ID) in children. The evaluation of their quality of life (QoL) is important for care optimisation and stakeholder decision making.

Method

A case-control study was conducted in the Child Development Clinic for children with Trisomy 21, Lady Ridgeway Hospital for Children (LRH) by using a parent directed validated multi-dimensional QoL (PedsQL™4.0) and a sociodemographic questionnaire to assess the QoL in children with Trisomy 21 in comparison to age and sex-matched healthy controls. It was evaluated in four domains and the physical and psychosocial health summary scores were calculated. Differences in mean scores between cases and controls were assessed using two-sample t-tests. Multivariate linear regression models were used to analyze factors affecting the QoL.

Results

The study included 226 children, 113 in each group, with similar gender distributions (47 males; 42 %). The mean age of cases and controls was 8.19 years (SD 3.11) and 8.30 years (SD 3.01) respectively. The mean QoL scores were significantly lower in the cases than in the controls in all four domains (p < 0.001). The highest mean score of cases (76.6/SD 13.8) was observed for Emotional Functioning followed by Physical Functioning (71.35/SD 14.89). The lowest mean score for cases, as well as the highest percentage difference for mean score compared to controls was observed for School Functioning (57.52/SD 11.79). The presence of extended family support was significantly associated with higher Physical Functioning score in cases but had no association with the Psychosocial summary score. Household income, parental education and nature of employment had no correlation with physical functioning and psychosocial summary score.

Conclusions

The QoL was significantly low in all domains in children with Trisomy 21 with the lowest outcome in school functioning. It highlights the need to develop interventional programs, wider social awareness, acceptability and support systems by the involved healthcare, educational and social services personnel, to uplift QoL in children with trisomy 21 who are now experiencing better health outcomes and life expectancy.