Abstrakt

Autoimmunity and Vitamin D deficiency in children affected with Trisomy 21.

Moaz Othman Bokhari, Mohammed Fawzi Mujallid, Sultan Azizullah Alsulami, Asmaa Adel Milyani, Mohammed Abdulwakil Alsulami, Nader Nabil Malatani, Rayan Abdulrahim Al-Sharief, Mutlaq Ateeq Alsolami, Abdulmoein Eid Al-Agha

Background: Individuals with neurodevelopmental disorders and intellectual disabilities such as Trisomy 21 are more likely to experience low vitamin D levels, which has recently been tied to an increased risk of autoimmunity. In addition, Trisomy 21 is associated particularly with an increased incidence in coeliac disease and thyroid dysfunction. The aim of this study was to investigate the prevalence of autoimmune diseases and vitamin D deficiency in children affected with Trisomy 21. Methodology: This is a retrospective study carried over the period of 12 years and included all children up to the age of 18 years. Data collected included laboratory reports such as profiles of both bone and thyroid, glycosylated haemoglobin A1C, fasting and random serum glucose levels; demographics such as age, gender and nationality; and diagnostic studies such as a tissue Transglutaminase (tTG) test and a duodenal biopsy. Data analysis was using the Statistical Package for Social Sciences v23. Results: The prevalence of vitamin D deficiency was found to be 65.5% while the prevalence of coeliac disease and type 1 Diabetes Mellitus was found to be respectively 36.8% and 2.1%. Furthermore, 51.1% were found to be hypothyroid and another 22.6% to be hyperthyroid, leaving only 26.3% with a normal thyroid function. Conclusion: We report a high incidence of vitamin D deficiency and autoimmune disorders, coeliac disease and thyroid dysfunction in particular, in children affected with Trisomy 21.