Authors :
Presenting Author: Norah Gidanian, BS – University of California, Los Angeles
Presenting Author: Norah Gidanian, –
Lauren Waldron, MD – University of California, Los Angeles; David Tabibzadeh, BS – University of California, Los Angeles; Norah Gidanian, BS – University of California, Los Angeles; Rujuta Sathe, BS – University of California, Los Angeles; Emmi Deckard, BS – University of California, Los Angeles; Rajsekar Rajaraman, MD – University of California, Los Angeles; Hiroki Nariai, MD PhD – University of California, Los Angeles; Shaun Hussain, MD – University of California, Los Angeles
Rationale: Adverse long-term outcomes following diagnosis of Infantile Epileptic Spasms Syndrome (IESS) include Lennox-Gastaut Syndrome (LGS), intellectual disability, and autism spectrum disorder (ASD). Risk factors for ASD among children with IESS are poorly characterized. In a large cohort of children with IESS, we set out to identify clinical and electrographic risk factors for subsequent development of ASD.
Methods: This is a retrospective cohort study. We studied a sample of 100 children with history of IESS who were at least two years of age at most recent clinical follow-up. Data were abstracted from the electronic medical record. Presence or absence of “likely ASD” was determined on the basis of all available data, including impressions of neurologists and developmental pediatricians, explicit formal testing (Autism Diagnostic Observation Schedule [ADOS], Autism Diagnostic Interview – Revised [ADI-R], and Brief Observation of Symptoms of Autism [BOSA]), and supplementary testing (Vineland Adaptive Behavior Scales [VABS], Social Responsiveness Scale-2 [SRS-2]).
Results: A total of 100 children (34% female) with IESS were identified, with median (IQR) age of onset of 6.3 (4.0 – 9.7) months. Etiology was known among 68% and development was normal at IESS onset among 50%. Response to IESS treatment and subsequent relapse of epileptic spasms were observed among 74% and 33%, respectively. With median (IQR) follow-up of 76 (40 – 120) months, 28 children (95%CI 20, 37) were classified as exhibiting likely ASD. Likely ASD was associated with male sex (
P = 0.039). All other clinical attributes were not associated with likely ASD, including age of IESS onset, development prior to IESS onset, response to IESS treatment, epileptic spasms relapse, and etiology. Similarly, among the 74 subjects who exhibited response, likely ASD was neither associated with duration of IESS prior to response, nor any clinical EEG feature at the time of response, including the presence and distribution of interictal slowing and the abundance and distribution of epileptiform discharges.
Conclusions: Our estimate of ASD prevalence among children who first present with IESS is high and concordant with prior studies linking IESS and ASD. However, the nature of the association is unclear; we did not observe a “dose-effect,” in that likely ASD was not associated with IESS refractoriness, duration from IESS onset to response, epileptic spasms relapse, or subsequent diagnosis of Lennox-Gastaut Syndrome.
Funding: This study was accomplished with support from the John C. Hench Foundation, the Elsie and Isaac Fogelman Endowment, the Mohammed F. Alibrahim Endowment, the Hughes Family Foundation, and the UCLA Children’s Discovery and Innovation Institute.