Abstract Details

Title Unraveling the Diagnostic Odyssey of Children with Non-motor Focal Epilepsy

Topic Child Neurology and Developmental Neurology

Presentation(s) P3 - Poster Session 3 (5:30 PM-6:30 PM)

Poster/Presentation
Number 8-003

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.

Objective

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

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.

Authors/Disclosures
Nora R. Jandhyala, MD PRESENTER	Ms. Jandhyala has nothing to disclose.
Hadley Greenwood	No disclosure on file
Monica Ferrer, MD	Dr. Ferrer has nothing to disclose.
Jacob Pellinen, MD (University of Colorado)	The institution of Dr. Pellinen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for SK Life Science. The institution of Dr. Pellinen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Jazz Pharmaceuticals.
Dennis J. Dlugos, MD	Dr. Dlugos has received research support from NIH. The institution of Dr. Dlugos has received research support from The Epilepsy Study Consortium.
Kristen Park, MD (Children'S Hospital Colorado)	The institution of Dr. Park has received research support from CURE GRIN. The institution of Dr. Park has received research support from GRIN2B Foundation.
Kwee L. Thio, MD (Washington University)	The institution of Dr. Thio has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Eisai Inc. The institution of Dr. Thio has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Epilepsy Study Consortium. The institution of Dr. Thio has received personal compensation in the range of $500-$4,999 for serving as a Consultant for GW Pharmaceuticals. The institution of Dr. Thio has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Ovid Therapeutics. The institution of Dr. Thio has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Takeda Pharmaceuticals. The institution of Dr. Thio has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Zogenix. The institution of Dr. Thio has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Marinus Pharmaceuticals. The institution of Dr. Thio has received personal compensation in the range of $500-$4,999 for serving as a Consultant for SK Biopharmaceuticals. The institution of Dr. Thio has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Stoke Therapeutics. The institution of Dr. Thio has received research support from NIH. The institution of Dr. Thio has received research support from Siteman Cancer Center - Washington University, Barnes-Jewish Hospital. The institution of Dr. Thio has received research support from Epilepsy Study Consortium. The institution of Dr. Thio has received research support from St. Louis Children's Hospital Foundation. Dr. Thio has received intellectual property interests from a discovery or technology relating to health care.
Jacqueline French, MD, FAAN (NYU Comprehensive Epilepsy Ctr)	Dr. French has received personal compensation in the range of $50,000-$99,999 for serving as an officer or member of the Board of Directors for Epilepsy Foundation. The institution of Dr. French has received research support from Epilepsy Study Consortium/ Epilepsy Foundation (Funded by UCB). The institution of Dr. French has received research support from GW/One8 Foundation/FACES. The institution of Dr. French has received research support from NINDS. The institution of Dr. French has received research support from Xenon. The institution of Dr. French has received research support from Cerevel. The institution of Dr. French has received research support from FACES. The institution of Dr. French has received research support from UCB. The institution of Dr. French has received research support from Epilepsy Study Consortium. The institution of Dr. French has received research support from UCB. Dr. French has received personal compensation in the range of $100,000-$499,999 for serving as a Chief Medical/Innovation Officer with Epilepsy Foundation. Dr. French has a non-compensated relationship as a Consultant with Angelini that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a consultant with Alterity Therapeutics Limited that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a consultant with Bright minds Biosciences that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Cerecin Inc that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Cognizance Biomarkers that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Arvelle that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a consultant with Beacon biosignals that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant, Advisory Board with Biohaven Pharmaceuticals that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Bloom Science Inc that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with BridgeBio Pharma Inc that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a consultant, scientific advisory board with Camp4 Therapeutics Corporation that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant, Scientific Advisory Board with Cerebral Therapeutics that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Cerevel that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a SAB with Coda Biotherapeutics that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Genentech Inc that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Crossject that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Eisai, that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Eliem Therapeutics that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Encoded Therapeutics that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with iQure Pharma that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant, SAB with Engrail that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a SAB with Epihunter that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a SAB with Epiminder that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Epitel Inc that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Equilibre BioPharmaceuticals that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a consultant with Greenwich Biosciences that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Grin Therapeutics that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with GW Pharma that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Janssen Pharmaceutica that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a consultant with Jazz Pharmaceuticals that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Knopp Biosciences that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Lipocine that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with LivaNova that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Longboard Pharmaceuticals that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant, SAB with Lundbeck that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant, SAB with Marinus that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a consultant with Modulight Bio that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Leal therapeutics that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Neumirna Therapeutics that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant,SAB with Neurocrine that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Neuroelectrics USA Corporation that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Neuronetics Inc that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Ono Pharmaceutical Co that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant, SAB with Otsuka Pharmaceutical Development that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant, SAB with Ovid Therapeutics Inc that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Paladin Labs Inc that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Rapport Therapeutics that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Praxis that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with PureTech LTY Inc that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a consultant with SK Life Sciences that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Stoke that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Supernus that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a consultant with Takeda that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant, SAB with UCB Inc that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Ventus Therapeutics that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a consulting, steering committee with Xenon that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a consultant with Korro Bio Inc that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with NeuroPro Therapeutics that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Advisory board with Receptor that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Advisory board with Sage Therpeutics that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Advisory Board with Third Rock Ventures that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consultant with Vida Ventures Management that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consulting with Pfizer that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consulting with Agrithera, Inc that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a consulting with Autifony therapeutics, Unlimited that is relevant to AAN interests or activities. Dr. French has a non-compensated relationship as a Consulting with Baergic Bio that is relevant to AAN interests or activities.