遗传性儿童癫痫的语言障碍。临床观察

Valentina I. Guzeva, Yulia A. Eremkina, O. Guzeva, V. V. Guzeva, D. A. Malekov, Viktoriya A. Vedernikova
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摘要

背景:儿童言语障碍是儿童神经病学亟待解决的问题之一。近年来,研究癫痫患儿言语障碍的遗传因素受到了广泛关注。儿童的语言功能是脆弱的,违反它会产生许多严重的后果。来自不同学科的专家专注于语言障碍的具体方面。语言治疗师根据语言标准考虑语言障碍,心理学家评估语言障碍儿童的心理特征。基因研究的快速发展,许多分子基因测试的可用性,特别是下一代测序等方法,使我们能够更加关注癫痫儿童语言障碍发展的遗传方面的研究。目的:根据临床实例,提出基因决定的儿童癫痫语言障碍的治疗方案。结果:本文分析了3例儿童癫痫合并言语病理的临床病例(2 ~ 5岁,男2例,女1例)。介绍了生活和疾病的记忆资料、神经学检查和语言功能的评估、遗传研究结果、脑电图检查和磁共振成像。结论:所有的患者都是由语言障碍、癫痫发作和与语言功能相关的遗传病理结合在一起的。这些临床观察表明,在癫痫发作儿童语言障碍的早期诊断阶段和进一步治疗阶段,都需要一种全面的、多学科的方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Speech disorders in genetically determined forms of epilepsy in children. Clinical observations
BACKGROUND: Speech disorders in children are one of the pressing problems of child neurology. In recent years, much attention has been paid to studying the genetic aspects of the development of speech disorders in children with epilepsy. Speech function in childhood is vulnerable, and its violation has a number of significant consequences. Specialists from different disciplines focus on specific aspects of speech disorders. Speech therapists consider speech disorders based on linguistic criteria, psychologists evaluate the psychological characteristics of children with speech disorders. The rapid development of genetic research, the availability of many molecular genetic tests, especially such a method as next generation sequencing, allowed us to pay more attention to the study of genetic aspects of the development of speech disorders in children with epilepsy. AIM: to present options for speech disorders in genetically determined forms of epilepsy in children based on clinical examples. RESULTS: The article analyzes 3 clinical cases of epilepsy in children, combined with speech pathology (2 boys and 1 girl aged 2 to 5 years). The data of anamnesis of life and disease, neurological examination with assessment of speech function, results of genetic research, electroencephalographic examination and magnetic resonance imaging are presented. CONCLUSION: All patients are united by a combination of speech disorders, epileptic seizures, and the presence of genetic pathologies that are responsible for speech function. These clinical observations demonstrate the need for a comprehensive, multidisciplinary approach both at the stage of early diagnosis of speech impairment in children with epileptic seizures and at the stage of further treatment of such patients.
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