Communication and motor development disorders in people with Dravet syndrome
Communication and motor development disorders in people with Dravet syndrome

Summary/Abstract: The basis of the disorders characteristic of Dravet syndrome is the occurrence of a genetic mutation within: SCN1A, SCN9A, SCN2B, PCDH19, GABRG2, GABRA1 or STXBP1 genes, resulting in encephalopathy, the symptom of these abnormalities is drug-resistant epilepsy. As a result of a combination of factors such as: damage to the central nervous system, intellectual disability, and severe epilepsy that begins in infancy, people with Dravet syndrome experience a regression of acquired skills following a short period of normative development. These regressions include communication, cognitive deficits and abnormalities in motor development. Cognitive and motor deficits are important indicators or multidisciplinary therapy enabling developmental progress, compensation of impaired functions, and the development of functioning strategies that will allow achieving optimal quality of life despite fluctuations in the intensity of symptoms of drug-resistant epilepsy.

• Details
• Contents