Abstract
Children with Down’s syndrome (DS) are at increased risk of autoimmune conditions including diabetes, coeliac and thyroid disease. Autoimmune diabetes occurs earlier in children with DS compared with the general population despite decreased levels of the typical genetic susceptibility factors. During this PhD, FADES (Feeding and Autoimmunity in Down Syndrome Evaluation Study) was established to examine early life and the development of autoimmunity. This was a UK wide feasibility study for which infants with DS were recruited under eight months of age. Parents completed detailed feeding and medical questionnaires at recruitment, seven months, 12 months and yearly thereafter. Sampling protocols were optimised for national collection by post. A DNA sample was collected as well as longitudinal samples for urine C-peptide, stool for gut microbiome and blood for antibodies. As part of the overall feasibility a qualitative study was undertaken to determine the potential barriers to recruitment of young infants with DS into research.Between September 2014 and September 2017, 70 participants were recruited. At two years, 61% of participants had completed all the requested questionnaires and samples. Initial analysis of clinical samples proved their adequacy for HLA genotyping and antibody testing. The questionnaires revealed that exclusive breastfeeding rates at six months in the cohort was comparable to rates in the general population (4% vs 1%). Issues with feeding were explored revealing at least half of the babies had received naso-gastric tube feeds.
This study has established one of the largest longitudinal birth cohorts of children with DS. The bank of samples and data to explore early life and autoimmunity in DS is unique. Findings will be used to inform parents and professionals on early feeding. Ongoing expansion of this cohort will aim to increase understanding of the mechanisms and pathogenesis of autoimmune-mediated conditions and may provide important insights for research.
| Date of Award | 28 Nov 2019 |
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| Original language | English |
| Awarding Institution |
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| Supervisor | Julian P Hamilton-Shield (Supervisor), Kathleen M Gillespie (Supervisor) & Sam D Leary (Supervisor) |