Abstract Details

Title Infantile Spasms of Unknown Etiology: Phenotypic Features of a Large Cohort

Topic Child Neurology/Developmental Neurobiology

Presentation(s) S25 - (-)

Poster/Presentation
Number 001

Background The etiology of IS is unknown in one third of patients despite investigation for structural, metabolic and chromosomal conditions. These patients are typically thought to have a better prognosis, but limited clinical data exists.

Objective

Design/Methods Participants were enrolled in the Epilepsy Phenome/Genome Project Infantile Spasms Project, a multi-center study. Medical records were reviewed by two independent reviewers, EEG and MRI brain imaging were reviewed, and patients were excluded if an etiology was identified.

Results Of 107 patients with IS of unknown etiology, 61 (57.0%) were male, 46 (43.0%) had a family history of epilepsy, and IS onset occurred at a median age of 5.3 months. Treatment was initiated within one month in 59.8% patients; corticosteroids were first line therapy in 66.3% patients. 29.0% had seizure freedom for at least six months with the first medication used, whereas 57.0% of patients had seizure subsequent to the IS. Developmental delay occurred prior to IS in 22.4%. At most recent assessment, only 20 (18.7%) had normal development. Normal developmental outcome was seen in 26.6% of patients who were treated with corticosteroids within one month and 41.9% of patients who had resolution of IS with the first medication used.

Conclusions This large cohort of patients with IS of unknown etiology shows significant heterogeneity of developmental and seizure outcomes. The majority of patients had an unfavourable developmental outcome despite factors previously identified to predict good prognosis including normal development prior to IS and prompt initiation of and response to treatment. The variable clinical outcomes suggest that the causes are likely heterogenous. Under the auspices of the Epi4K Project, whole genome sequencing of these patients will provide valuable prognostic, diagnostic, and therapeutic options in the future.

Authors/Disclosures
Christopher J. Yuskaitis, MD, PhD (Takeda Pharacueticals) PRESENTER	Dr. Yuskaitis has nothing to disclose.
	No disclosure on file
Maura R. Ruzhnikov, MD (Stanford University)	Dr. Ruzhnikov has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Orchard Therapeutics. Dr. Ruzhnikov has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Affinia Therapeutics. Dr. Ruzhnikov has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Travere Therapeutics. Dr. Ruzhnikov has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for PTC Therapetuics. The institution of Dr. Ruzhnikov has received research support from Grace Science Foundation. The institution of Dr. Ruzhnikov has received research support from Ionis Pharmaceuticals. The institution of Dr. Ruzhnikov has received research support from NIH. Dr. Ruzhnikov has a non-compensated relationship as a Co-founder and Secretary with Little Zebra Fund that is relevant to AAN interests or activities.
	No disclosure on file
Annapurna Poduri, MD, MPH	An immediate family member of Dr. Poduri has received personal compensation for serving as an employee of Beam Therapeutics. An immediate family member of Dr. Poduri has stock in Beam Therapeutics. The institution of Dr. Poduri has received research support from NIH.
Ingrid E. Scheffer, MBBS, PhD, FRACP, AO (Melbourne Brain Centre)	Dr. Scheffer has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biohaven Pharmaceuticals, Inc. Dr. Scheffer has received personal compensation in the range of $0-$499 for serving as a Consultant for Longboard Pharmaceuticals . The institution of Dr. Scheffer has received personal compensation in the range of $0-$499 for serving as a Consultant for Epilepsy Consortium. Dr. Scheffer has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Bellberry Ltd. The institution of Dr. Scheffer has received research support from National Health and Medical Research Council, Australia. The institution of Dr. Scheffer has received research support from National Health and Medical Research Council, Australia. The institution of Dr. Scheffer has received research support from National Health and Medical Research Council, Australia. The institution of Dr. Scheffer has received research support from Medical Research Future Fund, Australia. The institution of Dr. Scheffer has received research support from Medical Research Future Fund, Australia. The institution of Dr. Scheffer has received research support from Medical Research Future Fund, Australia. The institution of Dr. Scheffer has received research support from Medical Research Future Fund, Australia. The institution of Dr. Scheffer has received research support from Medical Research Future Fund, Australia. The institution of Dr. Scheffer has received research support from Shenzhen Sanming Development Grant . The institution of Dr. Scheffer has received research support from Einstein Visiting Fellowship. Dr. Scheffer has received intellectual property interests from a discovery or technology relating to health care. Dr. Scheffer has received intellectual property interests from a discovery or technology relating to health care. Dr. Scheffer has received intellectual property interests from a discovery or technology relating to health care. Dr. Scheffer has received personal compensation in the range of $0-$499 for serving as a Speaker honoraria with Akumentis. Dr. Scheffer has received personal compensation in the range of $0-$499 for serving as a Travel/Conference/Speaker honoraria with Biocodex. Dr. Scheffer has received personal compensation in the range of $0-$499 for serving as a Travel/Conference/Speaker honoraria with BioMarin. Dr. Scheffer has received personal compensation in the range of $0-$499 for serving as a Speaker honoraria with Chiesi. Dr. Scheffer has received personal compensation in the range of $0-$499 for serving as a Travel/Conference/Speaker honoraria with Eisai. Dr. Scheffer has received personal compensation in the range of $0-$499 for serving as a Travel/Conference with Encoded Therapeutics. Dr. Scheffer has received personal compensation in the range of $0-$499 for serving as a Speaker honoraria with Liva Nova. Dr. Scheffer has received personal compensation in the range of $0-$499 for serving as a Speaker honoraria with Nutricia. Dr. Scheffer has received personal compensation in the range of $0-$499 for serving as a Travel/Conference/Speaker honoraria with Stoke Therapeutics. Dr. Scheffer has received personal compensation in the range of $0-$499 for serving as a Travel/Conference/Speaker honoraria with UCB. Dr. Scheffer has received personal compensation in the range of $0-$499 for serving as a Speaker honoraria with Zuellig Pharma Inc.. Dr. Scheffer has a non-compensated relationship as a Trial Investigator with Anavex Life Sciences that is relevant to AAN interests or activities. Dr. Scheffer has a non-compensated relationship as a Trial investigator with Cerebral Therapeutics that is relevant to AAN interests or activities. Dr. Scheffer has a non-compensated relationship as a Trial investigator with Cerecin that is relevant to AAN interests or activities. Dr. Scheffer has a non-compensated relationship as a Trial investigator with Cereval Therapeutics that is relevant to AAN interests or activities. Dr. Scheffer has a non-compensated relationship as a Trial investigator with Eisai that is relevant to AAN interests or activities. Dr. Scheffer has a non-compensated relationship as a Scientific Advisory Board, Trial investigator with Encoded Therapeutics that is relevant to AAN interests or activities. Dr. Scheffer has a non-compensated relationship as a Trial investigator with EpiMinder Inc that is relevant to AAN interests or activities. Dr. Scheffer has a non-compensated relationship as a Trial investigator with ES-Therapeutics that is relevant to AAN interests or activities. Dr. Scheffer has a non-compensated relationship as a Trial investigator with Knopp Biosciences that is relevant to AAN interests or activities. Dr. Scheffer has a non-compensated relationship as a Trial investigator with Marinus Pharmaceuticals that is relevant to AAN interests or activities. Dr. Scheffer has a non-compensated relationship as a Trial investigator with Neurocrine BioSciences that is relevant to AAN interests or activities. Dr. Scheffer has a non-compensated relationship as a Trial investigator with Ovid Therapeutics that is relevant to AAN interests or activities. Dr. Scheffer has a non-compensated relationship as a Trial investigator with SK Life Science that is relevant to AAN interests or activities. Dr. Scheffer has a non-compensated relationship as a Trial investigator, Scientific Advisory Board with Takeda Pharmaceuticals that is relevant to AAN interests or activities. Dr. Scheffer has a non-compensated relationship as a Trial investigator with Xenon Pharmaceuticals that is relevant to AAN interests or activities. Dr. Scheffer has a non-compensated relationship as a Trial investigator with Zogenix that is relevant to AAN interests or activities. Dr. Scheffer has a non-compensated relationship as a Journal Editorial Board with Neurology that is relevant to AAN interests or activities. Dr. Scheffer has a non-compensated relationship as a Journal Editorial Board with Epilepsy Currents that is relevant to AAN interests or activities. Dr. Scheffer has a non-compensated relationship as a Journal Editorial Board with Epileptic Disorders that is relevant to AAN interests or activities. Dr. Scheffer has a non-compensated relationship as a Journal Editorial Board with The Lancet Neurology that is relevant to AAN interests or activities. Dr. Scheffer has a non-compensated relationship as a Journal Editorial Board with Progress in Epileptic Disorders series that is relevant to AAN interests or activities. Dr. Scheffer has a non-compensated relationship as a Director with Australian Academy of Health and Medical Sciences that is relevant to AAN interests or activities. Dr. Scheffer has a non-compensated relationship as a Director with Royal Society (Australia). that is relevant to AAN interests or activities.
Elliott H. Sherr, MD, PhD (UCSF)	No disclosure on file
	No disclosure on file

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