Mortality in Down's syndrome in relation to congenital malformations

Down's syndrome (DS) is the most common form of intellectual disability. Th e syndrome is characterized by congenital malformations, especially of the heart and gastrointestinal tract, which can result in high mortality rates in the affected population. Many improvements have been made in the medical treatment of this syndrome during the past few decades and the survival of individuals with DS has increased in the industrial world. The aim of the present study was to investigate mortality in relation to congenital malfor mations. Medical records from all liveborn children with DS delivered betwe en 1973 and 1980 in northern Sweden were studied, and malformations and cau ses of death were recorded. Out of the 219 children included in the study, a congenital heart defect was reported in 47.5% of subjects, 42.1% of whom had complete atrioventricular septal defect. Gastrointestinal tract malform ations were present in 7.3% of subjects, and was frequently associated with a cardiac malformation and a very high mortality rate. Other major and min or congenital anomalies were present in 5.5% and 5.5% of subjects, respecti vely. In the 14.5-year follow-up of 213 children, the rare of survival was 75.6%. Mortality by rates within one and 10 years after birth were 14.6% an d 23.5%, respectively. Mortality within 10 years differed significantly bet ween children with (44.1%) and without (4.5%) a congenital heart defect. A very high mortality rate was observed among children with a congenital hear t defect, especially when it was combined with a gastrointestinal malformat ion.