Abstract Details

Title Elucidating Phenotypic Characteristics and Burden of Clinical Care Needs in Genetic Developmental and Epileptic Encephalopathies – A Single Center Study.

Topic Epilepsy/Clinical Neurophysiology (EEG)

Presentation(s) P10 - Poster Session 10 (5:00 PM-6:00 PM)

Poster/Presentation
Number 9-003

Objective

To characterize the spectrum of clinical needs with respect to neurological, developmental, neuropsychiatric, and systemic comorbidities in genetically confirmed developmental and epileptic encephalopathies (DEEs).

Background Genetic developmental and epileptic encephalopathies (DEEs) represent a class of severe neurological disorders characterized by early-onset seizures and neurodevelopmental abnormalities in the setting of monogenetic etiology. While seizures are the predominant clinical feature in these disorders, understanding the underlying burden of clinical care is important for providing optimal clinical care.

Design/Methods

A retrospective chart review was conducted on patients with genetically confirmed DEE over a period of 5 years (2019-2024). Clinical information relating to phenotypes and specialist clinical care utilization was reviewed.

Results

Fifty-eight patients with pathogenic/likely pathogenic variants linked to genetic DEEs were included. Monogenic diagnoses included SCN1A (10), PRRT2 (9), KCNQ2 (9), CACNA1A (5), and 18 other genes with 1–3 patients each. The mean age of cohort was 6.8 +/- 6.5 years. SCN1A (10), KCNT1 (1), ARX (1), CACNA1A (5), GABRA1 (2)- related DEEs were associated with the highest seizure burden, medication-resistant seizures and frequent hospitalizations. Patients with PRRT2 (56%, 5 of 9) and KCNQ2 (44%, 4 of 9) had prominent gastrointestinal comorbidities (constipation). SLC6A1 (1), GABRB3 (1), and CHD2 (1) were associated with predominance of neurodevelopmental delays and neuropsychiatric disorders (Autism, ADHD, aggression). All 58 patients (100%) needed epilepsy care, 38 (66%) received neurodevelopmental therapies and 28 (48%) required neuropsychiatric care. Nineteen (33%) required sub-specialist care with gastroenterology, 17 (29%) with sleep medicine, 15 (26%) with pulmonology, 11 (19%) with ophthalmology, 6 (10%) with cardiology, and 6 (10%) with urology.

Conclusions The heterogeneity in seizures, neurodevelopmental, neuropsychiatric and systemic abnormalities in patients genetic DEEs underscores the need for individualized clinical approaches. Our results advocate for tailored clinical care coordination strategies for specific genetic DEEs with emphasis on neuropsychiatric and systemic comorbidities in addition to epilepsy.

Authors/Disclosures
Grayson Hetherington, Student PRESENTER	Mr. Hetherington has received research support from NIH Medical Student Research Fellowship Program (MSRF) at the College of Medicine of the University of Tennessee Health Science Center.
Emily S. Bonkowski, CGC	Ms. Bonkowski has nothing to disclose.
Basanagoud Mudigoudar, MD	Dr. Mudigoudar has nothing to disclose.
James W. Wheless, MD, FAAP, FACP, FAAN, FAES, FCNS, FAAN (UTHSC-Pediatric Neurology)	Dr. Wheless has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Jazz. Dr. Wheless has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Neurelis. Dr. Wheless has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Azurity. Dr. Wheless has received personal compensation in the range of $500-$4,999 for serving as a Consultant for UCB. Dr. Wheless has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biocodex. Dr. Wheless has received personal compensation in the range of $500-$4,999 for serving as a Consultant for LivaNova. Dr. Wheless has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Stoke. Dr. Wheless has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for LivaNova. Dr. Wheless has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Jazz. Dr. Wheless has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for UCB. Dr. Wheless has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for UCB. Dr. Wheless has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Neurelius.
Nitish Chourasia, MD	Dr. Chourasia has nothing to disclose.

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