Abstracts

Rationale: Infantile spasms (IS) is a serious but rare disorder affecting 2-3/ 10,000 live births. Rapid progress in improving treatment requires multicenter collaboration. The National Infantile Spasms Consortium (NISC) of the Pediatric Epilepsy Research Consortium (PERC) brings together 30 US pediatric epilepsy centers. Initial efforts are focused on a prospective observational study to evaluate the etiology, initial investigations and first treatments used in newly-diagnosed IS. Methods: 21 US pediatric epilepsy centers enrolled infants with newly diagnosed spasms age 2 months to 2 years. Data collected included sex, primary etiology, initial evaluations ordered (neuroimaging, genetic and metabolic studies) and initial treatments used. Enrollment was staggered due to IRB approval.Results: From 06/12-06/13, 15 centers enrolled 70 infants. Median age at seizure onset was 6 m (IQR 3-9) and 56% were male. Median gestational age was 39 weeks; 22 % <37 weeks. An underlying cause was identified in 48/70 (69%): malformations of cortical development, 8 (11%); tuberous sclerosis, 3 (4%); other congenital brain anomalies, 8 (11%); prior brain injury, 18 (25%) (HIE 6, PVL/IVH 4, trauma 5, stroke 2 and postnatal infection - 1); tumor, 2 (3%); genetic/metabolic, 11 (16%)( 5 with Trisomy 21). Initial treatment for IS was documented in 65 cases: ACTH, 25 (38%); high dose oral steroids,15 (23%); vigabatrin,16 (25%); topiramate,6 (9 %); one each of ketogenic diet, phenobarbital and levetiracetam. Three month outcome data was available for 41 children. Seventeen (41%) children were treated with one, 12 (29%) with two and 12 (29%) with >3 medications. One child had surgery and one was deceased. Twenty (49%) had early remission of spasms (within two weeks of treatment) which was sustained at 3 months. Three had early remission but subsequently relapsed and one had late remission (occurring after 2 weeks) which was sustained at 3 months. 20 children received ACTH as initial therapy; 12 (60%) had an early remission and one late remission which was sustained for a total of 13 (65%) with sustained remission. Of 9 other children treated with high dose oral steroids, one (11%) had early remission sustained at 3 months. 10 children were treated with vigabatrin with 1 (10%) child achieving early remission with sustained remission and one child with an early remission followed by later relapse. Conclusions: An underlying etiology for spasms was discovered in nearly two thirds of cases. ACTH was the most commonly used initial therapy. Consistent with current guidelines, ACTH appeared to be the most effective initial therapy in this small cohort; however, a substantial proportion of children do not receive ACTH and many still do not respond to treatment well. A prospective multicenter collaboration is feasible for large-scale studies infantile spasms and may result in investigations to improve the seizure and developmental outcomes of this serious disorder.