An Infantile Epileptic Spasms Syndrome Multidisciplinary Program: One Center’s Experience.
Abstract number :
3.279
Submission category :
4. Clinical Epilepsy / 4B. Clinical Diagnosis
Year :
2025
Submission ID :
381
Source :
www.aesnet.org
Presentation date :
12/8/2025 12:00:00 AM
Published date :
Authors :
Presenting Author: Kathryn Havens, MS, PA-C – Children’s National Health System
Sun-Young Ahn, MD – Children’s National Health System
Kathleen Bender, BA – Children’s National Health System
Carrin Brandt, LMFT – Children’s National Health System
Hannah Grindling, MMSc, LCGC – Children’s National Health System
Melissa Liggett, PhD – Children’s National Health System
Archana Pasupuleti, MD – Children’s National Health System
Monica Rush, BSN, RN, CPN – Children’s National Health System
Anne Vasiliadis, MSN, CPNP-AC – Children’s National Health System
Sanam Zarei, MD – Children’s National Health System
William Gaillard, MD – Children's National Hospital
Wei-Liang Chen, MD – Children’s National Health System
Rationale: An Infantile Epileptic Spasms Syndrome (IESS) program was started at Children’s National Health System in April 2018 after recognizing that IESS patients and families could benefit from a multidisciplinary medical home due to the complexity of the diagnosis. A program to coordinate inpatient care, outpatient EEGs and appointments, obtain medication prior authorizations, provide genetic testing and counseling, monitor labs, manage medication side effects and offer long-term developmental assessment.
Methods: Our IESS program consists of an epileptologist/geneticist, genetic counselor, physician assistant, epilepsy RN, program coordinator, and family therapist. We closely partner with a Nephrologist, Developmental Psychologist, and Neurohospitalist Nurse Practitioner. Since 2018, there have been a total of 118 patients seen in the IESS program. Patients with Tuberous Sclerosis (TS) are referred to the TS program.
Results: Our comprehensive team has allowed us to solidify an inpatient to outpatient clinical pathway. We have streamlined the initiation of 3 first-line treatments (ACTH, High-dose oral corticosteroids, vigabatrin) during hospitalization, and made electronic medical record dot phrases for the residents. Prior to discharge, 1) our epilepsy RN meets with the family and contacts the pediatrician to review medication monitoring guidelines 2) our program coordinator schedules the 2 hour EEG and follow up appointment. We have found genetic etiology is the most common cause (48.1%) of IESS. About 1/3rd of patients has an unknown etiology. In 2024, more than 60% of patients received 1st tier exome sequencing. More common alterations found: SYNGAP1, STXBP1, Trisomy 21, DCX. Less common genes found: CAMK2A, IQSEC2. We have demonstrated the importance of a multidisciplinary practice to improve clinical care: 1) Repeating a brain MRI due to focal semiology, finding a focal cortical dysplasia, and seizure freedom after resective surgery 2) Partnering with Endocrinology to safely manage a prolonged 2 month prednisolone wean followed by a 7 week hydrocortisone wean resulting in seizure freedom 3) Collaborating with research in a patient with pathogenic variant in CAMK2A, functional studies revealed a gain of function of the calmodulin, and treated with Depakote to reduce calmodulin activity. In a patient with Ornithine transcarbamylase (OTC) deficiency, Vigabatrin was not effective so we used ½ a steroid dose knowing that steroids can further suppress the urea cycle. Our hypertension QI project found 2/3rd of our patients on steroids developed hypertension. A barrier to monitoring blood pressure was lack of communication, therefore, a pathway was developed to streamline communication with the PCP and nephrology.
Conclusions: We have established an efficient, organized and reliable IESS program with several strengths. We communicate closely with the PCPs, follow a multidisciplinary approach, have reserved EEG slots, integrated genetic counseling and testing and provide family therapy support. Our future goals are to establish a Center of Excellence for IESS incorporating multidisciplinary and multi-institutional cares biorepository, clinical research and precision medicine.
Funding: NONE
Clinical Epilepsy