Trial Status: Open
Children with Downs Syndrome (DS) have increased risk of autoimmune conditions where the bodys immune system attacks its own cells, such as thyroid problems, diabetes and coeliac disease (causing problems absorbing food). In DS autoimmunity is likely to be related to inherent defects in the immune system. The increased risk of diabetesrelated autoimmunity is despite a reduced prevalence of the usual genes that are seen in people who develop diabetes. Infant feeding practice has been linked to diabetes and coeliac risk with some evidence that prolonged breastfeeding is protective. We hypothesise that in infants with DS, already at increased risk, early feeding practices may be related to the development of autoimmunity. Children with DS may have difficulties with breastfeeding leading to rapid introduction of formula feeds.
There will be an initial phase (Phase 1) where we will pilot the stool collection kit.
In Phase 2, the main study, we aim to create a cohort of infants with DS recruited through the Downs Syndrome Association (DSA) and Downs Syndrome Scotland (DSS) to study the association between early infant feeding, infections and the development of autoimmunity. We anticipate that we will recruit 100 patients per year.
Parents will be asked to complete questionnaires at baseline detailing family history, birth history, weight, medical problems and early feeding. They will have further feeding questionnaires at 7 months and 12 months, and medical questionnaires annually until the age of 5 years. Samples would be collected at baseline including faeces, a brushing from the infants cheek for genotyping (looking at their DNA), a blood sample to look at autoantibody
production (antibodies which act against their own cells), and a urine specimen to detect development of diabetes. Further stool, urine and blood samples are collected at 6 months, 12months and yearly thereafter until 5 years of age.