Early development in Dravet syndrome; visual function impairment precedes cognitive decline

Epilepsy Res. 2011 Jan;93(1):73-9. doi: 10.1016/j.eplepsyres.2010.10.015. Epub 2010 Nov 24.

Abstract

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.

MeSH terms

  • Child, Preschool
  • Cognition Disorders / etiology*
  • Disease Progression
  • Epilepsies, Myoclonic / complications*
  • Female
  • Humans
  • Longitudinal Studies
  • Male
  • Vision Disorders / etiology*