Unraveling the Diagnostic Odyssey of Children with Non-motor Focal Epilepsy
Nora Jandhyala1, Hadley Greenwood1, Monica Ferrer1, Jacob Pellinen2, Dennis Dlugos3, Kristen Park4, Kwee Thio5, Jacqueline French1
1Neurology, NYU Langone Health, 2Neurology, University of Colorado, 3Pediatrics and Neurology, Children's Hospital of Philadelphia, 4Pediatrics and Neurology, Children's Hospital Colorado, 5Neurology, Washington University in St. Louis
Objective:

This study aimed to conduct an in-depth analysis of children with non-motor seizures and their paths to diagnosis.

Background:
Individuals with focal epilepsy often face significant delays to diagnosis, which are particularly prominent in non-motor cases. These delays frequently lead to preventable morbidity and mortality.
Design/Methods:

This retrospective analysis utilized data from the Human Epilepsy Project, an international study that collected data from 34 sites from 2012-2017. Participants enrolled were ≥12 years, typically developing, and within 4 months of diagnosis of focal epilepsy. We used participant medical records to identify those with initial non-motor seizure semiology.

Results:

There were 36 children aged 11-18 years with non-motor onset focal epilepsy and detailed pre-diagnostic records. Median time to diagnosis was 9 months (ranging from 2 weeks to 10 years). Seizure descriptions included odd sensations, visual or auditory experiences, and emotions (most commonly anxiety or fear).

 

A range of providers were seen prior to diagnosis, with one patient evaluated by over five. The most frequent evaluations were with emergency departments (31%) followed by neurologists (13.8%) and primary care (11%). Prior to epilepsy diagnosis, almost half (47.2%) received an alternate diagnosis, including syncope (5/17), dehydration (4/17), and psychiatric diagnoses (4/17). Other explanations included psychogenic non-epileptic events, headache, and first-lifetime seizure. Six children received multiple explanations (6/36).

 

Fifty-eight percent were diagnosed only after conversion to motor seizures. The most prevalent consequences of delay were school disruption (6/36) and injuries during a subsequent motor seizure (5/36).

Conclusions:
This study illustrates the challenge of receiving a diagnosis of non-motor seizures, illustrating that many cases only come to attention after conversion to motor seizures and that many see providers early, only to be misdiagnosed. We describe details of the path to diagnosis in a cohort of children with the aim of increasing recognition of non-motor seizures and reducing diagnostic delays.
10.1212/WNL.0000000000206674