Epilepsy research · 2011
Neuropsychological development in children with Dravet syndrome.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Chieffo Daniela, Battaglia Domenica, Lettori Donatella, Del Re Maria, Brogna Claudia, Dravet Charlotte, Mercuri Eugenio, Guzzetta Francesco
Аннотация
PURPOSE: 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.
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.
Предметные рубрики MeSH
Age of OnsetAttention Deficit Disorder with HyperactivityChildChild, PreschoolCodon, NonsenseCognition DisordersDNA Mutational AnalysisDevelopmental DisabilitiesHumansInfantLanguage Development DisordersMemory DisordersMutation, MissenseMyoclonic Epilepsy, JuvenileNAV1.1 Voltage-Gated Sodium ChannelNerve Tissue ProteinsNeuropsychological TestsProspective StudiesPsychomotor DisordersRetrospective StudiesSodium ChannelsSyndromeWechsler Scales