Journal
EPILEPSY RESEARCH
Volume 93, Issue 1, Pages 73-79Publisher
ELSEVIER
DOI: 10.1016/j.eplepsyres.2010.10.015
Keywords
Dravet syndrome; Early development; Visual function
Categories
Funding
- Mariani Foundation
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Aim of the study was to describe prospectively the early neuropsychological evolution including the first pre-cognitive stages of the Severe Myoclonic Epilepsy in Infancy (SMEI) or Dravet syndrome. Five cases, four of whom since before a diagnostic evidence of the Dravet syndrome, were followed up. Full clinical assessment including developmental, visual function and behaviour assessments were serially performed. In four cases, a variable onset age of cognitive decline assessed with developmental scales was preceded some months before by an impairment of visual function; the remaining patient during all the course of follow-up till 51 months of age showed a normal development without visual impairment. A cognitive decline with variable onset was generally confirmed in Dravet syndrome. The previous early impairment of visual function seems to herald the cognitive decline and provides useful prognostic information; furthermore, it possibly suggests some clues for a better understanding of the mechanisms of cognitive deterioration in this syndrome. (C) 2010 Elsevier B.V. All rights reserved.
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