Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published cases.

ABSTRACT:

Purpose

Aicardi syndrome is a rare epileptic encephalopathy, almost exclusively affecting girls. It was first described as a triad of infantile spasms, chorioretinal defects and agenesis of the corpus callosum. The etiology remains unknown and there is uncertainty on best practice therapy and outcome. We aimed at defining quantitative clinical endpoints that will inform future research and clinical trials.

Methods

Quantitative natural history modeling of cases with Aicardi syndrome from published clinical reports. Main outcome measures were age at disease onset, survival and diagnostic delay. Phenotypic features of affected individuals as well as neuroradiological and ophthalmological features were descriptively stated. STROBE criteria were respected.

Results

Two hund

SUBMITTER: Urban OY 

PROVIDER: S-EPMC11616230 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature