Introduction: There are no established methods to identify children with atypical diabetes for further study. We aimed to develop strategies to systematically ascertain cases of atypical pediatric diabetes using electronic medical records (EMR).
Research design and methods: We tested two strategies in a large pediatric hospital in the USA. Strategy 1: we designed a questionnaire to rule out typical diabetes and applied it to the EMR of 100 youth with diabetes. Strategy 2: we built three electronic queries to generate reports of three atypical pediatric diabetes phenotypes: unknown type, type 2 diabetes (T2D) diagnosed <10 years old and autoantibody-negative type 1 diabetes (AbNegT1D).
Results: Strategy 1 identified six cases (6%) of atypical diabetes (mean diagnosis age=11±2.6 years, 16.6% men, 33% non-Hispanic white (NHW) and 66.6% Hispanic). Strategy 2: unknown diabetes type: n=68 (1%) out of 6676 patients with diabetes; mean diagnosis age=12.6±3.3 years, 32.8% men, 23.8% NHW, 47.6% Hispanic, 25.4% African American (AA), 3.2% other. T2D <10 years old: n=64 (6.6%) out of 1142 patients with T2D; mean diagnosis age=8.6±1.6 years, 20.3% men, 4.7% NHW, 65.6% Hispanic, 28.1% AA, 1.6% other. AbNegT1D: n=38 (5.6%) out of 680 patients with new onset T1D; mean diagnosis age=11.3±3.8 years; 57.9% men, 50% NHW, 19.4% Hispanic, 22.3% AA, 8.3% other.
Conclusions: In sum, we identified 1%-6.6% of atypical diabetes cases in a pediatric diabetes population with high racial and ethnic diversity using systematic review of the EMR. Better identification of these cases using unbiased approaches may advance precision diabetes.
Keywords: Children; MODY; Pediatric Diabetes.
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