Abstract

People with Down's syndrome (DS) have a higher risk of developing type 1 diabetes mellitus (T1D) and may have specific clinical features compared to T1D patients without DS. This study evaluated the clinical and laboratory aspects of T1D in children and adolescents with DS in an admixed population. A case-control study comparing patients with T1D and DS (T1D+DS) to patients with T1D without DS (T1D controls) from two tertiary academic Hospitals in São Paulo, Brazil. The sample consisted of 9 patients with T1D+DS and 18 T1D age and sex-matched controls. Anti-glutamic acid decarboxylase 65 antibodies were positive in 7/7 of the 9 T1D+DS patients, confirming the presence of diabetes autoimmunity in this group. Mean age at diagnosis of T1D was 4.9 ± 3.9 years in the T1D+DS group and 6.4 years ± 3 in the T1D control group; early diagnosis (<2 years old) occurred in three T1D+DS patients but only in one T1D control patients, both suggesting lower age of diagnosis in T1D+DS group, although without statistical significance (p = 0.282 and p = 0.093, respectively). The T1D+DS group presented lower total insulin dose (0.7 IU/kg/day ± 0.2) and HbA1c (7.2% ± 0.6) than the control group (1.0 IU/kg/day ± 0.3 and 9.1% ± 0.7, respectively) (p = 0.022 and p = 0.047, respectively). We confirmed the autoimmune etiology of diabetes in people with DS in this admixed population. T1D+DS patients developed diabetes earlier and achieved better metabolic control with a lower insulin dose than T1D controls. These findings are in agreement with previous studies in Caucasian populations.

Highlights

  • Down’s syndrome (DS), first described in 1886, is a genetic disorder caused by the presence of a third copy of chromosome 21 [1]

  • The sample consisted of 27 patients, 9 (33.3%) in the type 1 diabetes mellitus (T1D)+DS group, and 18 (66.7%) in the T1D Control group

  • The age at T1D diagnosis was numerically lower in the T1D+DS group 4.9 ± 3.9 years than in the controls, 6.4 ± 3 years, with no statistical significance; p = 0.282

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Summary

Introduction

Down’s syndrome (DS), first described in 1886, is a genetic disorder caused by the presence of a third copy of chromosome 21 [1]. The study recruited patients from the Pediatric Diabetes Outpatient Clinic of both centers and included patients diagnosed with DS and T1D aged 18 years old or under.

Results
Conclusion
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