title: A prospective longitudinal study on visuo-cognitive development in Dravet syndrome: Is there a "dorsal stream vulnerability"?
abstract: A group of five DS patients whose first development was already reported were longitudinally followed up till the scholar age. Beside the general and epileptic clinical evolution, visual and cognitive functions were investigated in order to define their trajectory and possibly provide information about mechanisms of cognitive decline as well as to improve prognosis and tertiary prevention. Neuropsychological assessment was performed with a test battery investigating the development of visual function that progressively integrates into extrastriate components and higher cognitive skills (global form and motion coherence, stereopsis, crowding cards, ABCDEFV battery, general intelligence and specific cognitive tests). Main results showed a fall in visuo-motor items including global motion coherence and specific cognitive skills, presenting a continuity of the visual function deterioration extended from basic abilities to visuo-motor dorsal pathway skills. Moreover, a case whose previous visual and cognitive functions had been in the normal range began showing a visual deterioration with increasing age, followed by the cognitive decline; that prevents from excluding in early ages a poor development in presence of a normal visual function. A dorsal stream vulnerability seems thus shown in this sample of DS patients, like in other genetic syndromes (Williams, Prader Willi. fragile-X), providing new information about mechanisms underlying cognitive decline and suggesting a possible strategy to improve their neuropsychological outcome. Larger cohorts may confirm whether these findings are part of a specific pattern of DS neuropsychological phenotype.
authors.affiliation: Unit of Neurology and Psychiatry, Catholic University, Rome, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Ricci
authors.affiliation: Unit of Neurology and Psychiatry, Catholic University, Rome, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Chieffo
authors.affiliation: Unit of Neurology and Psychiatry, Catholic University, Rome, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Battaglia
authors.affiliation: Unit of Neurology and Psychiatry, Catholic University, Rome, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Brogna
authors.affiliation: Unit of Neurology and Psychiatry, Catholic University, Rome, Italy.
authors.forename: I
authors.initials: I
authors.lastname: Contaldo
authors.affiliation: Unit of Neurology and Psychiatry, Catholic University, Rome, Italy.
authors.forename: V
authors.initials: V
authors.lastname: De Clemente
authors.affiliation: Unit of Neurology and Psychiatry, Catholic University, Rome, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Losito
authors.affiliation: Unit of Neurology and Psychiatry, Catholic University, Rome, Italy.
authors.forename: Ch
authors.initials: Ch
authors.lastname: Dravet
authors.affiliation: Unit of Neurology and Psychiatry, Catholic University, Rome, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Mercuri
authors.affiliation: Unit of Neurology and Psychiatry, Catholic University, Rome, Italy. Electronic address: fguzzetta@rm.unicatt.it.
authors.forename: F
authors.initials: F
authors.lastname: Guzzetta
mesh_terms: D001288:Attention; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D003071:Cognition; D003867:Depth Perception; D004831:Epilepsies, Myoclonic / Q000503:physiopathology*; D056344:Executive Function; D006801:Humans; D007223:Infant; D007360:Intelligence; D007361:Intelligence Tests; D008137:Longitudinal Studies; D009483:Neuropsychological Tests; D011446:Prospective Studies; D014785:Vision, Ocular; D014792:Visual Acuity
keywords: Dorsal stream processing; Dravet syndrome; Early development; Visual function