Communication Delays In Dravet   

Joseph M. Sanzari Children’s Hospital Epilepsy Expert’s ENVISION Study Research Advance Understanding of Dravet Syndrome

Rare condition research findings featured at 2023 American Epilepsy Society meeting

Communication Delays in Dravet

Eric Ségal, M.D., a pediatric neurologist and epileptologist and director of Pediatric Epilepsy at the Joseph M. Sanzari Children’s Hospital at Hackensack University Medical Center, is among the researchers whose Dravet syndrome studies were featured at the 2023 meeting of the American Epilepsy Society.

The featured research focused on the ENVISION study, a comprehensive observational study aimed at prospectively evaluating the natural course of neurodevelopmental status, adaptive functioning, motor functioning, sleep, quality of life, seizure frequency and types in young SCN1A+ patients with Dravet syndrome.

More than 80% of those diagnosed with the rare condition have an SCN1A mutation, but the presence of a mutation alone is not sufficient for diagnosis, nor does the absence of a mutation exclude the diagnosis. Mutations in SCN1A can lead to disorders including migraines, childhood epilepsy or more severe and life-long epilepsy syndromes.

The group’s four international, prospective natural history reviews of the ENVISION study evaluated cognitive and executive functioning difficulties, fine and gross motor functioning, seizure burden and communication issues in young children with SCN1A+ Dravet syndrome, as well as a longitudinal quality of life assessment in both caregivers and affected children.

In addition, the researchers published a prospective history on the ENVISION study in Epilepsia focused on seizure burden and language/communication development in children with Dravet syndrome. These findings emphasized the optimal therapeutic window to prevent language or communication delay as prior to 3 years of age.

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