Medical and social concerns for individuals with Down syndrome in Hong Kong : perspective from parents or caregivers

Down syndrome (DS) is the most common chromosomal disorder in humans. It is associated with various medical, social and developmental issues affecting all stages of life. Most people with DS now live to adulthood. However, limited data is available on the medical and social concerns and the impacts on their quality of life. In this study, my primary aim was to study the health-related quality of life (HRQoL) of Chinese with DS in Hong Kong. Secondarily, 2 other important aspects of medical care and counseling for people with DS were explored: the level of satisfaction in the transition from paediatric to adult medical care, and how language choice in medical settings can be of great significance to caretakers and families. In collaboration with Hong Kong Down Syndrome Association, a proxy-assessment survey was designed and administered to parents or caregivers of people with DS. I used the Health Utilities Index (HUI) to measure the HRQoL of people with DS. Logistic Regression Model was employed to estimate the associations between HRQoL scores and various physical and developmental-behavioural morbidities. The findings on the survey of service satisfaction and sensitive language are summarized quantitatively. I recruited 116 Chinese people with DS (n = 63 male; age ranged from 5 to 53). More than 50% of the subjects scored in the severe range on the HUI disability scale. Behavioural problems (HUI2) and hearing problems (HUI2 and HUI3) were statistically significant predictors (p-value<0.05) for a less favorable HRQoL score. A statistically significant inverse dose response relationship was observed between the HRQoL scores and the number of developmental-behaviour problems, as well as the number of chronic health problems. Satisfaction of service rated by caretakers reveals that >80% felt accessibility and coordination of both medical and social service were better when the subjects were in their childhood. Sixty percent felt that transition care is lacking and nearly 90% felt that caring for a person with DS is more difficult as they age. For the exploratory survey on language choice in medical setting, most participants rated ‘成為負擔 become a burden’ (82%), ‘冇用 useless’ (77%), ‘冇希望 hopeless’ (77%) and ‘唔正常 abnormal’ (76%) as offensive. Alternative words suggested include ‘可能需要特別指導及訓練 may need special guidance and training’ and ‘特殊 special’ instead of ‘成為負擔 become a burden’ and ‘唔正常 abnormal’ respectively. On the other hand, the least rated offensive words were ‘染色體異常 chromosome deviant’ (35%), “發育遲緩 growth delay” (35%) and ‘傷殘人士 handicapped person’ (34%). Medical and social issues addressed will be useful for health care providers, genetic counselors, and parents or caregivers to gain a broader perspective of the realistic outcome of individuals with DS under the healthcare infrastructure available in Hong Kong. This knowledge is important to inform expectations of families, improve communication between families and health care professionals, and to facilitate the design of targeted interventions to improve quality of life for people with this common genetic disorder.published_or_final_versionObstetrics and GynaecologyMasterMaster of Medical Science