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

**Authors:** Haydn P. Swackhamer, Sonia Stoica, Mikki Sapkota, Oluwaseyi I. Olulana, Mahdi Taye, Akshay C. Patel, Alyssa M. Smith, Iqra C. Mian, Mudit Gupta, Alia C. Stanciu, M. Cosmin Sandulescu

PMC · DOI: 10.3389/fneur.2026.1744336 · Frontiers in Neurology · 2026-02-10

## TL;DR

This study compares how well electronic health records identify essential tremor using two different diagnostic criteria, finding that accuracy improves with more clinical visits.

## Contribution

The study evaluates the diagnostic performance of EHR-based essential tremor coding against adjudicated criteria in real-world neurology practice.

## Key findings

- ET diagnostic coding showed high sensitivity and NPV across both criteria.
- Specificity and PPV improved with multiple clinical encounters.
- The 2018 criteria had lower specificity compared to the 1998 criteria.

## Abstract

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.

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.

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.

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.

## Linked entities

- **Diseases:** essential tremor (MONDO:0003233)

## Full-text entities

- **Genes:** MFSD11 (major facilitator superfamily domain containing 11) [NCBI Gene 79157] {aka ET}
- **Diseases:** ataxic gait (MESH:D020234), TN (MESH:C579935), diabetes mellitus type 2 (MESH:D003924), abnormal tandem gait (MESH:D020233), Parkinsonism (MESH:D010302), cervical dystonia (MESH:D014103), COPD (MESH:D029424), cerebellar (MESH:D002526), rigidity (MESH:D009127), orthostatic tremor (MESH:C536418), neurology (MESH:D009461), MS (MESH:D009103), seizures (MESH:D012640), cognitive deficits (MESH:D003072), Movement Disorder (MESH:D009069), dystonia (MESH:D004421), cerebellar ataxia (MESH:D002524), PD (MESH:D010300), Action tremor (MESH:D014202), bradykinesia (MESH:D018476), hypertension (MESH:D006973), ataxia (MESH:D001259), ICD (MESH:D008310), diabetes (MESH:D003920), FP (MESH:D017541), spinocerebellar atrophy (MESH:D020754), ET (MESH:D020329), head tremor (MESH:D006258)
- **Chemicals:** alcohol (MESH:D000438)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12929152/full.md

## References

40 references — full list in the complete paper: https://tomesphere.com/paper/PMC12929152/full.md

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Source: https://tomesphere.com/paper/PMC12929152