Early development in Dravet syndrome; visual function impairment precedes cognitive decline.
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.
Catholic University, Child Neurology and Psychiatry, Rome, Italy.
Daniela
D
Chieffo
Daniela
D
Ricci
Giovanni
G
Baranello
Diego
D
Martinelli
Chiara
C
Veredice
Donatella
D
Lettori
Domenica
D
Battaglia
Charlotte
C
Dravet
Eugenio
E
Mercuri
Francesco
F
Guzzetta
D002675:Child, Preschool; D003072:Cognition Disorders / Q000209:etiology*; D018450:Disease Progression; D004831:Epilepsies, Myoclonic / Q000150:complications*; D005260:Female; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D014786:Vision Disorders / Q000209:etiology*