Diagnostic performance of essential tremor criteria in electronic health records: a retrospective neurology cohort study.

BACKGROUND

The 2018 Movement Disorder Society criteria introduced stricter diagnostic requirements for essential tremor (ET) compared with the 1998 consensus; however, how electronic health record (EHR)-based ET diagnostic coding aligns with chart-adjudicated criteria in routine practice remains unclear. We evaluated the diagnostic performance of EHR-based ET coding relative to chart-adjudicated criteria in a US neurology practice.

METHODS

We conducted a retrospective study within the Geisinger Health System in Pennsylvania. Patients with neurologist-assigned ET diagnoses were identified and stratified as ET-only or ET with differential diagnostic coding. A stratified random sample underwent manual chart review. Clinical features were mapped to both criteria after one and two visits. Accuracy metrics-sensitivity, specificity, sample-based positive predictive value (PPV), and sample-based negative predictive value (NPV)-were calculated with 95% confidence intervals.

RESULTS

The reviewed sample included 447 ET-only cases and 137 with differential. With one visit, the 1998 criteria yielded sensitivity of 96% (94-98%), specificity of 60% (53-67%), PPV of 82% (78-86%), and NPV of 88% (82-94%). The 2018 criteria demonstrated similar sensitivity (96%, 94-98%) but lower specificity (38%, 32-44%) and PPV of 53% (48-58%), with NPV of 93% (88-98%). With ≥2 visits, specificity increased to 71% (61-81%) and PPV to 85% (80-90%) for the 1998 criteria, and to 51% (43-59%) and 65% (57-71%) for the 2018 criteria.

CONCLUSION

In this cohort, ET diagnostic coding showed consistently high sensitivity and NPV across frameworks. Specificity and PPV differed by criterion and improved with multiple clinical encounters.