Department of Neuroscience, Section of Rehabilitation, University of Padova, Padova, Italy.
Padova Neuroscience Center, University of Padova, Padova, Italy.
Epilepsia. 2021 Apr;62(4):874-887. doi: 10.1111/epi.16844. Epub 2021 Mar 1.
Dravet syndrome (DS) is a rare severe epilepsy syndrome associated with slowed psychomotor development and behavioral disorders from the second year onward in a previously seemingly normal child. Among cognitive impairments, visuospatial, sensorimotor integration, and expressive language deficits are consistently reported. There have been independent hypotheses to deconstruct the typical cognitive development in DS (dorsal stream vulnerability, cerebellar-like pattern, sensorimotor integration deficit), but an encompassing framework is still lacking. We performed a scoping review of existing evidence to map the current understanding of DS cognitive and behavioral developmental profiles and to summarize the evidence on suggested frameworks. We searched PubMed, Scopus, PsycInfo, and MEDLINE to identify reports focusing on cognitive deficits and/or behavioral abnormalities in DS published between 1978 and March 15, 2020. We followed the Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR) guidelines. Twenty-one reports were selected and tabulated by three independent reviewers based on predefined data extraction and eligibility forms. Eighteen reports provided assessments of global intelligence quotients with variable degrees of cognitive impairment. Eleven reports analyzed single subitems contribution to global cognitive scores: these reports showed consistently larger impairment in performance scales compared to verbal ones. Studies assessing specific cognitive functions demonstrated deterioration of early visual processing, fine and gross motor abilities, visuomotor and auditory-motor integration, spatial processing, visuo-attentive abilities, executive functions, and expressive language. Behavioral abnormalities, reported from 14 studies, highlighted autistic-like traits and attention and hyperactivity disorders, slightly improving with age. The cognitive profile in DS and some behavioral and motor abnormalities may be enclosed within a unified theoretical framework of the three main hypotheses advanced: a pervasive sensorimotor integration deficit, encompassing an occipito-parietofrontal circuit (dorsal stream) dysfunction and a coexistent cerebellar deficit.
德拉维雷综合征（DS）是一种罕见的严重癫痫综合征，与此前看似正常的儿童第二年起出现的精神运动发育迟缓及行为障碍相关。在认知障碍中，视觉空间、感觉运动整合和表达性语言缺陷是一致报道的。已经有独立的假说来解构 DS 的典型认知发展（背侧流易损性、小脑样模式、感觉运动整合缺陷），但仍缺乏全面的框架。我们对现有证据进行了范围界定审查，以绘制 DS 认知和行为发育概况的现有理解，并总结关于建议框架的证据。我们在 PubMed、Scopus、PsycInfo 和 MEDLINE 中搜索了 1978 年至 2020 年 3 月 15 日发表的重点关注 DS 认知缺陷和/或行为异常的报告。我们遵循了系统评价和荟萃分析扩展的首选报告项目（PRISMA-ScR）指南。根据预先设定的数据提取和资格表格，由三位独立评审员选择并列出了 21 份报告。十八份报告提供了全球智商评估结果，显示出不同程度的认知障碍。十一份报告分析了对全球认知评分的单个子项的贡献：这些报告显示，与言语评分相比，表现评分的损伤更大。评估特定认知功能的研究表明，早期视觉处理、精细和粗大运动能力、视动和听觉运动整合、空间处理、视注意能力、执行功能和表达性语言的能力均有恶化。从 14 项研究中报告了行为异常，突出了类似自闭症的特征以及注意力和多动障碍，这些特征随着年龄的增长而略有改善。DS 的认知特征和一些行为和运动异常可能包含在三个主要假说提出的统一理论框架内：普遍存在的感觉运动整合缺陷，包含枕顶额回路（背侧流）功能障碍和共存的小脑缺陷。
