Aicardi syndrome and cognitive abilities: A report of five cases

- Aicardi syndrome is a rare neurodevelopmental disorder
- Agenesis of corpus callosum, chorioretinal lacunae, and infantile spasms are the main features
- Infantile spasms and subsequent epilepsy are associated with decreased level of cognitive functioning
- A thorough neuropsychological assessment is imperative to meet the special needs of these patients

Aicardi syndrome is a rare neurodevelopmental disorder with agenesis of corpus callosum, chorioretinal lacunae, and infantile spasms as the main features. The outcome is in general severe, with poor cognitive development and difficult-to-treat epilepsy.In this study, we assessed the level of cognitive function of five girls with Aicardi syndrome, using normed population based tests and questionnaires. Their cognitive abilities varied from mild to profound intellectual disabilities. The more severe the epilepsy, the poorer were the cognitive skills.To the best of our knowledge, this is the first study that systematically applies validated cognitive assessment tools to study patients with this syndrome. Knowledge about cognitive functioning is crucial for providing optimal special education and finding appropriate alternative communication with parents and caregivers.