Making the Diagnosis
Shigeru Kaneki1, Sarah Barnard2, Jacqueline French3, Daniel Lowenstein4, Ruben Kuzniecky5, Kwee Thio6, Manisha Holmes7
1New York Medical College, 2Monash University, 3NYU Comprehensive Epilepsy Ctr, 4UCSF, 5Northwell Health, 6Washington University, 7Westchester Medical Center
Objective:
We aim to understand the value of a clinical adjudication committee in verifying the diagnosis of new onset focal epilepsy.
Background:

Human Epilepsy Project (HEP) 1 is a multicenter prospective observational study of newly treated focal epilepsy patients with a goal of identifying biomarkers predictive of patient prognosis. Significant effort was employed to ensure proper enrollment including an adjudication committee.

Design/Methods:

Subjects were submitted for enrollment if they were deemed to have a >80% likelihood of focal epilepsy and were seen within four months of treatment initiation. If subjects had a normal or no MRI/ EEG, or if eligibility was in question for any other reason, they were adjudicated by 4 expert epileptologists to establish a consensus agreement on the diagnosis. Details of history, MRI and EEG findings at time of enrollment for each group were analyzed, along with reasons for later disqualification.

Results:
489 participants were enrolled, with 354 (72%) requiring adjudication.  During the course of the study, 13 participants were later rejected for not having a diagnosis of focal epilepsy; 5/135 (3.7%) not adjudicated and 8/354 (2.3%) adjudicated. 10/13 ultimately did not have epilepsy (7 non-epileptic seizures, 1 long QT syndrome, and 2 others) and 3 had generalized epilepsy. At time of enrollment, 6 subjects had a normal EEG, 3 had no EEG, and 4 had an abnormal EEG. 7 subjects had a normal MRI, 3 had no MRI, and 3 had an abnormal MRI. 
Conclusions:

Using strict enrollment criteria and an expert adjudication panel, only 2.6% (13/489) of those enrolled were later discovered not to have a diagnosis of focal epilepsy. Despite lacking MRI/EEG confirmation of focal epilepsy, those requiring adjudication had a lower rate of misdiagnosis when compared to those who did not require adjudication.

10.1212/WNL.0000000000205105