Epilepsy in Chromosomal Abnormalities: An Italian Sample

Epilepsy is common in chromosomal abnormalities, but systematic studies are scanty. We describe an Italian sample of patients with chromosomopathies to establish epilepsy occurrence and clinical electroencephalographic (EEG) features. Forty-five patients with different types of chromosomal abnormalities were analyzed to examine different variables in patients with epilepsy (group 1) and without (group 2) and to compare the types of epilepsy in our cases with respect to a nonselected sample of Italian people with epilepsy. Epilepsy occurred in 51.1% (group 1) of cases and prevailed in autosomal abnormalities but without a statistical significance (P > .05). There was a prevalence of EEG paroxysmal abnormalities in group 1 (P < .0001); continuous spike-waves during sleep were observed in three cases. Profound mental retardation prevailed in group 1 (P < .001) and mild mental retardation in group 2 (P < .05). Generalized epilepsies prevailed significantly (P < .00001). A high-resolution karyotype should be undertaken in all patients with epilepsy presenting with mental retardation when an obvious etiology is not available. (J Child Neurol 2005;20:419—423).