Cognitive decline in Dravet syndrome: Is there a cerebellar role?
Cognitive decline in Dravet syndrome: Is there a cerebellar role?
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DOI：
10.1016/j.eplepsyres.2013.03.012
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发表时间：
2013-09-01
影响因子：
2.2
通讯作者：
Guzzetta, Francesco
中科院分区：
文献类型：
--
作者：
Battaglia, Domenica;Chieffo, Daniela;Guzzetta, Francesco
目的：本研究的目的是对一系列患有Dravet综合征（DS）的癫痫患者的认知能力和行为进行详细评估，以建立可能的小脑样模式。方法：9名没有严重行为障碍且认知能力与特定认知技能评估（IQ>45）相符的DS儿童入组研究，与另一组9名癫痫患者（隐源性或有症状的轻微脑损伤）平行，这些患者连续入院，年龄和智商相匹配。所有病例进行了神经系统检查，长期脑电图监测，神经影像学和遗传分析，以及神经心理学评估，包括特定的认知skills.Results：在神经系统检查8的9 DS患者有小脑的迹象，这是轻微的6和更严重的其他两种情况下。DS患者的口头和性能项目规模（口头优于视觉空间）之间存在持续的差异，这在对照组中没有发现。至于具体的认知能力，DS患者与对照组的认知缺陷模式不同，涉及四个主要领域的认知能力（a）表达语言与相对备用的理解，（B）视觉空间组织，（c）执行功能缺陷，（d）行为障碍。在DS患者中发现的认知困难的模式与文献中报道的小脑认知综合征一致，可能是小脑起源的原因如其他临床和实验研究所示，在DS患者中观察到的认知下降（至少作为辅助因素）。(C)2013爱思唯尔有限公司版权所有。
Purpose: 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. (C) 2013 Elsevier B.V. All rights reserved.