德拉维特综合症患者的社交沟通概况

IF 4.6 Q2 MATERIALS SCIENCE, BIOMATERIALS ACS Applied Bio Materials Pub Date : 2024-08-28 DOI:10.1016/j.yebeh.2024.110007
Borja Laña, Nerea Crespo-Eguilaz, Rocío Sánchez-Carpintero
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引用次数: 0

摘要

德雷维综合征(Dravet Syndrome,DS)表现出多方面的临床表现,以癫痫、认知障碍和行为障碍为特征,并在整个发育过程中不断发展。行为障碍包括社交关系和沟通障碍,经常被诊断为自闭症谱系障碍。这项研究的重点是全面评估和比较 43 名患德拉韦综合征的儿童、30 名患一级自闭症谱系障碍的儿童、36 名患社交(实用)沟通障碍的儿童和 18 名智障儿童的社交沟通情况。通过使用儿童自闭症谱系测试(Childhood Autism Spectrum Test)和儿童交流检查表(Children's Communication Checklist)等有效工具,我们发现了儿童社交交流障碍的不同模式。我们的研究结果表明,德拉沃综合症儿童在社交关系方面面临挑战,主要原因是他们在使用实用语言方面存在困难。与患有自闭症的儿童相比,兴趣范围和社会交往等方面受到的影响较小,这强调了这两种疾病的不同特征。虽然 DS 儿童和智障儿童可能具有相似的智力功能,但 DS 儿童不同的社会交流障碍表明,他们在 DS 表型中的作用超出了智障儿童。这些结果突显了 DS 独特的社会交流特征,并强调了量身定制的干预措施和深入的表型分析对于有效管理 DS 的重要性。
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The profile of social communication in Dravet syndrome

Dravet syndrome (DS) presents a multifaceted clinical picture marked by epilepsy, cognitive impairments and behavioral disorders that progresses throughout development. Behavioral disorders include impairments in social relationships and communication, with frequent diagnosis of autism spectrum disorder. This study focused on comprehensively evaluating and comparing social communication profiles among a group of 43 children with Dravet syndrome, 30 children with level 1 autism spectrum disorder, 36 with social (pragmatic) communication disorder, and 18 with intellectual disability. Using validated tools like the Childhood Autism Spectrum Test and Children’s Communication Checklist, distinct patterns of social communication deficits were delineated. Our findings indicate that children with Dravet syndrome experience challenges in social relationships, primarily due to difficulties in use of pragmatic language. Areas such as range of interests and social interaction are less affected compared to those with ASD, emphasizing differing profiles between the conditions. While children with DS and ID may have similar intellectual functioning, the different social communication deficits in DS indicate their role in the DS phenotype beyond ID. These results underscore the unique social communication profile of DS and emphasizes the importance of tailored interventions and deep phenotyping efforts for effective DS management.

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来源期刊
ACS Applied Bio Materials
ACS Applied Bio Materials Chemistry-Chemistry (all)
CiteScore
9.40
自引率
2.10%
发文量
464
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