Agathe Roubertie

Objectives: To investigate the cognitive abilities and school performances in children with typical absence epilepsy (IAE) compared to a control group of non epileptic children, matched by socio-economic status, age and sex. Methods: Neuropsychological tests were performed in a group of 27 children with IAE and in 30 non-epileptic children (Wechsler scale, BEM 144, Rey picture, Conners scale, DSM4 subtests, Trail Making test, Stroop test). School performances were appreciated according to the criteria of French Education Department. All children had almost 2 EEG and a clinical examination every six months, during a period of one year. Results: Significantly lower pIQ and full IQ were recorded in IAE patients, with absence of high level IQ; a very high incidence of attention deficit disorders (52%), and low abilities concerning short term memory, verbal and visual memory, information processing, and motor speed were also observed. 71% of patients have school difficulties (15% in control group). These results concern a high percentage of children with normal EEG and well controlled absences. Conclusion: IAE is not a so benign condition that it is said, and special care and teatching are necessary for most of the patients, even a good response to therapy is observed.

Objectives: To describe the phenotypical aspects of Myotonic Dystrophy (M.D) in children, and to emphasize the possibility of less severe congenital or early-onset forms compared to the classical aspects. Methods: In a retrospective study, all cases diagnosed as M.D in Montpellier and Sherbrooke from 1994 to 2004 were analysed on a clinical point of view, with phenotype-genotype correlations as well. Results: Beside the classical severe congenital forms of M.D, some patients can have a less serious prognosis with a slow progression, but with marked intellectual deficiency, early-onset dysmorphic features, and orthopaedic complications. Others have only a congenital weakness with hypotonia, then a motor and mental delay, with a slow progrssion. In a third group, the neonatal period is normal, but a non progressive mental deficiency remains several years the only manifestation of the disease. In these forms, the typical aspect of adult M.D appears after the age of 10 years. Finally, as in adults, the disease may have a very low progression from the age of 10, with various phenotypes (facial dysmorphy, mood disorders, myotonia ...) Conclusion: M.D phenotype in children is extremely wide, with a continuum between the neonatal and the adult forms. No clear phenotype-genotype correlation could be made.