Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation.

Pediatric Neurology
Christopher J YuskaitisElliott H Sherr

Abstract

No large-scale studies have specifically evaluated the outcomes of infantile spasms (IS) of unknown cause, previously known as cryptogenic or idiopathic. The Epilepsy Phenome/Genome Project aimed to characterize IS of unknown cause by phenotype and genotype analysis. We undertook a retrospective multicenter observational cohort of 133 individuals within the Epilepsy Phenome/Genome Project database met criteria for IS of unknown cause with at least six months of follow-up data. Clinical medical records, imaging, and electroencephalography were examined. Normal development occurred in only 15% of IS of unknown cause. The majority (85%) had clinically documented developmental delay (15% mild, 20% moderate, and 50% severe) at last assessment (median 2.7 years; interquartile interval 1.71-6.25 years). Predictors of positive developmental outcomes included no delay prior to IS (P < 0.001), older age of IS onset (median six months old), and resolution of IS after initial treatment (P < 0.001). Additional seizures after IS occurred in 67%, with predictors being seizures prior to IS (P = 0.018), earlier age of IS onset (median five months old), and refractory IS (P = 0.008). On a research basis, whole exome sequencing identified 15% wit...Continue Reading

Citations

Jul 13, 2019·Epilepsia·Peter E DavisUNKNOWN Tuberous Sclerosis Autism Centers of Excellence Research Network
Oct 28, 2019·Annals of Clinical and Translational Neurology·Yin-Hsi ChangYung-Ting Kuo
Jun 24, 2020·Journal of Medical Genetics·Stefanie BrockKatrien Stouffs
Dec 4, 2019·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Ilona KreyJohannes R Lemke
Mar 26, 2021·Journal of Child Neurology·Julie A NelsonKelly G Knupp
Dec 12, 2021·Epilepsia·Beth R SheidleyAnnapurna Poduri

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