Table 1 Binary features at diagnosis and their predictive value for identifying MODY.
Criteria | Prevalence of criteria | Sensitivity (proportion with MODY meeting criteria) | Specificity (proportion without MODY not meeting criteria) | ROC AUC | PPV for MODY (proportion of people meeting criteria who have MODY) | NPV (proportion of people not meeting criteria who do not have MODY) | ||
|---|---|---|---|---|---|---|---|---|
All (n = 3541) | MODY (n = 46) | Non-MODY (n = 3495) | ||||||
(a) Clinical features | ||||||||
HbA1c < 58 | 8% | 78% | 7% | 78.3% [63.6, 89.1] | 93.0% [92.1, 93.8] | 0.856 | 12.8% [9.1, 17.3] | 99.7% [99.4, 99.9] |
Female Sex | 45% | 54% | 45% | 54.4% [39.0, 69.1] | 55.3% [53.6, 56.9] | 0.548 | 1.6% [1.0, 2.3] | 98.9% [98.4, 99.3] |
Parent affected | 14% | 63% | 13% | 63.0% [47.6, 76.8] | 87.0% [85.8, 88.1] | 0.75 | 6.0% [4.0, 8.5] | 99.4% [99.1, 99.7] |
Absence of Polyuria | 7% | 72% | 6% | 71.7% [56.5, 84.0] | 93.8% [92.9, 94.5] | 0.828 | 13.2% [9.2, 18.0] | 99.6% [99.3, 99.8] |
Absence of polydipsia | 8% | 72% | 7% | 71.7% [56.5, 84.0] | 92.9% [92.0, 93.7] | 0.823 | 11.7% [8.2, 16.1] | 99.6% [99.3, 99.8] |
Absence of DKA | 84% | 100% | 83% | 100% [92.3, 100] | 16.7% [15.5, 18.0] | 0.583 | 1.6% [1.1, 2.1] | 100% [99.4, 100] |
Absence of Weight loss | 28% | 87% | 27% | 87.0% [73.7, 95.1] | 72.7% [71.2, 74.2] | 0.80 | 4.0% [2.9, 5.4] | 99.8% [99.5, 99.9] |
(b) Islet autoantibodies | ||||||||
GAD only tested Negative | 46% | 100% | 45% | 100% [92.3, 100] | 54.8% [53.1, 56.5] | 0.774 | 2.8% [2.1, 3.8] | 100% [99.8, 100] |
IA2 only tested Negative | 30% | 100% | 29% | 100% [92.3, 100] | 70.9% [69.4, 72.4] | 0.855 | 4.3% [3.2, 5.7] | 100 [99.9, 100] |
ZnT8 only tested Negative | 39% | 100% | 38% | 100% [92.3, 100] | 62.2% [60.6, 63.8] | 0.811 | 3.4% [2.5, 4.5] | 100 [99.8, 100] |
All 3 antibodies negative | 12% | 100% | 11% | 100% [92.3, 100] | 89.4% [88.4, 90.4] | 0.947 | 11.1% [8.2, 14.5] | 100 [99.9, 100] |
