Abstracts

Rationale: The etiology of Infantile Spasms (IS) may predict developmental outcome. Improved neuroimaging and cytogenetic testing have increased the ability to determine the cause of infantile spasms. Methods: A retrospective chart review of 48 patients with newly diagnosed IS between 2002 and 2007 was performed, assessing whether newer diagnostic techniques improve prediction of long term outcome. Etiology was classified as genetic (chromasomal, dysplasia or syndromic), remote symptomatic with well defined injury, Tuberous Sclerosis (TS) or cryptogenic. Results: 22 patients had genetic disorders, 5 remote symptomatic, 3 TS, and 18 were cryptogenic. Improved MRI techniques revealed dysplasia in 16 pts; cytogenetic techniques were diagnostic in 3 pts. Extensive metabolic testing did not improve diagnoses. At diagnosis of IS, 19 of 48 were developmentally normal. At long term follow-up, 7(15%) were normal (6 cryptogenic, 1 tuberous sclerosis). 9 pts had seizures (other than IS) before onset of IS. 4 were developmentally normal at onset of IS. None were normal at long term follow-up.( 4 had dysgenesis, 3 remote symptomatic, 2 cryptogenic). Conclusions: MRI and extensive cytogenetic testing have the highest likelihood of determining the etiology of IS. Other metabolic testing has a low yield. Good prognosticators were not defined. Onset of seizures (other than IS) prior to IS is a predictor of impaired neurodevelopment.