Abstracts

We recently reported a large French-Canadian family with bathing epilepsy and X-linked transmission. All five affected members had reflex complex partial seizures occuring during the experience of bathing or induced by the contact of water. We noticed a high prevalence of learning difficulties in affected patients and sought to better characterize this observation. Complete neuropsychological evaluation was performed for 3 of the 4 living individuals with bathing epilepsy. Complete neuropsychological testing of these three individuals with familial bathing epilepsy revealed severe deficits in writing and, to a lesser extent, in reading. These deficits contrasted with oral language abilities assessed in conversation and by the Boston Naming Test, which have been found to be normal, except for a limited verbal letter fluency. General intellectual level was low average, but without any significant difference between verbal and nonverbal scales. Both verbal (RAVLT and WMS-III logical memory and verbal paired associates) and visual (Rey-O figure, design and faces from WMS-III) memory functions were within normal limits. None of these patients presented deficits in executive functions. Taken together, these three profiles are compatible with a diagnostic of dyslexia . In addition, an initial questionnaire reveals significant learning difficulties compatible with dyslexia in the fourth living member with bathing epilepsy, but neuropsychological testing is pending. These findings suggest an association between dyslexia/dysorthographia and reflex bathing epilepsy. Genetic studies are underway. Characterization of the genetic defect for bathing epilepsy may provide valuable insight into the pathogenesis of dyslexia. (Supported by CIHR, Epilepsy Canada, and Savoy Foundation.
GAR is supported by CIHR.)