Endocrine Abstracts

Introduction: Children with Down’s Syndrome (DS) have altered immunity with higher rates of diabetes, thyroid autoimmunity, coeliac disease, respiratory tract infections and leukemia. Diabetes in children with DS appears to be accelerated with an earlier age of onset compared with the general population, with 22% diagnosed before the age of 2 years. Increased HLA class II DR3/4 susceptibility is seen in in children with DS and diabetes but the prevalence is reduced compared children with diabetes in the general population. FADES (Feeding and Autoimmunity in Down’s Syndrome Evaluation Study) aims to study the association between early infant feeding, infections, antibiotic use and the gut microbiome in the development of autoimmunity in DS.

Methods: FADES is a longitudinal UK birth cohort of children with DS, with follow up until the age of seven years. Parents complete detailed medical and feeding questionnaires online close to birth, at six months and annually. DNA samples are collected at recruitment and samples for urine C peptide, gut microbiome and blood samples are collected close to birth at 6 months, 12 months and annually.

Results: The study has to date, enrolled 80 infants (Male n=41), mean age at recruitment 17.3 weeks (S.D.10 weeks). Initial analysis of questionnaires from 61 participants reveals that all had hospital admissions during infancy. Hypothyroidism was diagnosed during infancy in 2 cases, one before the age of three months. Transient abnormal myelopoiesis was diagnosed in 5% of participants. HLA class II analysis of the first 62 participants shows that 6% have the highest risk genotype for Type 1 diabetes compared to 3% in the general population. Analysis of questionnaires and samples to further characterise the cohort for the presence of markers of autoimmunity and associations with feeding and health is ongoing.

Conclusion: This longitudinal birth cohort of children with DS is an important resource for understanding the causes of autoimmunity including Type 1 diabetes in a ‘high risk’ population.