1. Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients.
- Author
-
Ragona F, Granata T, Dalla Bernardina B, Offredi F, Darra F, Battaglia D, Morbi M, Brazzo D, Cappelletti S, Chieffo D, De Giorgi I, Fontana E, Freri E, Marini C, Toraldo A, Specchio N, Veggiotti P, Vigevano F, Guerrini R, Guzzetta F, and Dravet C
- Subjects
- Adolescent, Age of Onset, Child, Child, Preschool, Electroencephalography, Female, Genotype, Heterozygote, Humans, Infant, Italy, Linear Models, Magnetic Resonance Imaging, Male, Mutation physiology, NAV1.1 Voltage-Gated Sodium Channel, Nerve Tissue Proteins genetics, Retrospective Studies, Seizures complications, Seizures genetics, Sodium Channels genetics, Status Epilepticus complications, Status Epilepticus genetics, Child Development physiology, Cognition physiology, Myoclonic Epilepsy, Juvenile genetics, Myoclonic Epilepsy, Juvenile psychology
- Abstract
Purpose: To clarify the role of epilepsy and genetic background in determining the cognitive outcome of patients with Dravet syndrome., Methods: In this retrospective study, we reviewed the clinical history and cognitive development of 26 patients who had been followed with standardized evaluations since seizure onset. The cognitive outcome was quantified as differential general quotient (dGQ) between ages 12 and 60 months. Statistical analysis correlated the dGQ with genotype and epilepsy course., Key Findings: Epilepsy started at the mean age of 5.6 months. All patients experienced prolonged convulsive seizures, whereas absences and myoclonus were reported in 17. Cognitive outcome was poor in almost all patients; the mean dGQ was 33 points, varying from 6-77 points. The analysis of individual cognitive profiles identified seven patients in whom the dGQ was <20 points; the main clinical characteristic in this subset of patients was lack of early absences and myoclonus. The statistical analysis of the whole series failed to reveal significant differences in cognitive outcome with regard to the presence of SCN1A mutations and their type. In particular, mutation-carrier patients with the best cognitive outcome harbored either missense or truncating mutations., Significance: Dravet syndrome encompasses different epileptic and cognitive phenotypes that probably result from both genetic and epigenetic factors. In this series, early appearance of myoclonus and absences was associated with the worst cognitive outcome., (Wiley Periodicals, Inc. © 2011 International League Against Epilepsy.)
- Published
- 2011
- Full Text
- View/download PDF