title: Neuropsychological development in children with Dravet syndrome.
abstract: OBJECTIVE
  Aim of this study is to report a detailed profile of neuropsychological development in children with Dravet syndrome.
  
  
  METHODS
  Twelve children with Dravet syndrome were longitudinally assessed using a detailed clinical and neuropsychological evaluation. Six had typical features of severe myoclonic epilepsy in infancy (SMEI) whereas the other six resulted borderline. All twelve underwent serial neuropsychological assessments with neurodevelopmental scales and further assessment of specific cognitive abilities.
  
  
  RESULTS
  Our results reported an apparent normal development before disease onset, a general evolution in two main stages, more active the first one and with a general trend towards a clinical stabilization afterwards. The onset of cognitive decline was generally later than what is reported in other series; furthermore, the impairment of cognitive development is less severe, especially in borderline cases. As to specific cognitive competence, attention, visual motor integration, visual perception as well as executive functions are the most impaired abilities; language appears less involved, with a predominance of phonological defects.
  
  
  CONCLUSIONS
  In our cohort the global development of patients appear less affected than in previous studies. Furthermore, our study points out an impairment of several specific cognitive skills even in patients with a developmental quotient apparently in the normal range. Language and other cognitive skill impairment such as attention, visuo-spatial organization, working memory and executive function appear consistent with what is usually found in cerebellar disorders.
authors.affiliation: Child Neurology and Psychiatry, Catholic University, Rome, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Chieffo
authors.forename: Domenica
authors.initials: D
authors.lastname: Battaglia
authors.forename: Donatella
authors.initials: D
authors.lastname: Lettori
authors.forename: Maria
authors.initials: M
authors.lastname: Del Re
authors.forename: Claudia
authors.initials: C
authors.lastname: Brogna
authors.forename: Charlotte
authors.initials: C
authors.lastname: Dravet
authors.forename: Eugenio
authors.initials: E
authors.lastname: Mercuri
authors.forename: Francesco
authors.initials: F
authors.lastname: Guzzetta
mesh_terms: D017668:Age of Onset; D001289:Attention Deficit Disorder with Hyperactivity / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense; D003072:Cognition Disorders / Q000209:etiology*; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000209:etiology*; D006801:Humans; D007223:Infant; D007805:Language Development Disorders / Q000209:etiology; D008569:Memory Disorders / Q000209:etiology; D020125:Mutation, Missense; D020190:Myoclonic Epilepsy, Juvenile / Q000150:complications / Q000235:genetics / Q000523:psychology*; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000172:deficiency / Q000235:genetics; D009483:Neuropsychological Tests; D011446:Prospective Studies; D011596:Psychomotor Disorders / Q000209:etiology*; D012189:Retrospective Studies; D015222:Sodium Channels / Q000172:deficiency / Q000235:genetics; D013577:Syndrome; D014888:Wechsler Scales
chemical_list: D018389:Codon, Nonsense; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels