title: Cognitive decline in Dravet syndrome: is there a cerebellar role?
abstract: OBJECTIVE
  The aim of the study was to perform a detailed assessment of cognitive abilities and behaviour in a series of epileptic patients with Dravet syndrome (DS) in order to establish a possible cerebellar-like pattern.
  
  
  METHODS
  Nine children with DS without major behavioural disturbances and with cognitive abilities compatible with the assessment of specific cognitive skills (IQ>45) were enrolled in the study, in parallel with another group of nine epileptic patients (cryptogenic or symptomatic with minor brain injuries) consecutively admitted into the hospital matched for chronological age and IQ. All cases underwent neurological examination, long term EEG monitoring, neuroimaging and genetic analysis as well as a neuropsychological assessment including specific cognitive skills.
  
  
  RESULTS
  On neurological examination 8 of the 9 DS patients had cerebellar signs, which were mild in six and more severe in the other two cases. DS patients had a constant discrepancy between verbal and performance items scales (verbal better than visual-spatial) that was not found in the control group. As to specific cognitive competence, the DS patients differ from the control group in the pattern of cognitive defects involving four main areas of cognitive abilities (a) expressive language with relatively spared comprehension, (b) visual-spatial organization, (c) executive function defects, (d) behavioural disorders.
  
  
  CONCLUSIONS
  The pattern of cognitive difficulties found in DS patients is consistent with what is reported in literature as cerebellar cognitive syndrome and may account for a possible cerebellar origin (at least as co-factor) of the cognitive decline observed in DS patients, as suggested by other clinical and experimental studies.
authors: Child Neurology and Psychiatry, Catholic University, Rome, Italy.
authors: Domenica
authors: D
authors: Battaglia
authors: Daniela
authors: D
authors: Chieffo
authors: Rosamaria
authors: R
authors: Siracusano
authors: Chiara de
authors: Cd
authors: Waure
authors: Claudia
authors: C
authors: Brogna
authors: Domiziana
authors: D
authors: Ranalli
authors: Ilaria
authors: I
authors: Contaldo
authors: Gaetano
authors: G
authors: Tortorella
authors: Charlotte
authors: C
authors: Dravet
authors: Eugenio
authors: E
authors: Mercuri
authors: Francesco
authors: F
authors: Guzzetta
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D000927:Anticonvulsants / Q000627:therapeutic use; D001288:Attention / Q000502:physiology; D002531:Cerebellum / Q000503:physiopathology*; D002648:Child; D002652:Child Behavior; D002675:Child, Preschool; D003072:Cognition Disorders / Q000209:etiology / Q000503:physiopathology* / Q000523:psychology*; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000150:complications / Q000503:physiopathology* / Q000523:psychology*; D056344:Executive Function; D005260:Female; D006801:Humans; D007361:Intelligence Tests; D007802:Language; D008279:Magnetic Resonance Imaging; D008297:Male; D008568:Memory / Q000502:physiology; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics; D009460:Neurologic Examination; D009483:Neuropsychological Tests; D012640:Seizures / Q000503:physiopathology; D014796:Visual Perception / Q000502:physiology; D014888:Wechsler Scales; D055815:Young Adult
chemical_list: D000927:Anticonvulsants; D062550:NAV1.1 Voltage-Gated Sodium Channel; C568242:SCN1A protein, human
keywords: Cognitive cerebellar pattern; Dravet syndrome; Neuropsychology in Dravet syndrome