Department of Child and Adolescent Psychiatry/Psychology, Erasmus Medical Center-Sophia Children's Hospital, P.O. Box 2060, 3000 CB, Rotterdam, The Netherlands.
ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center-Sophia Children's Hospital, P.O. Box 2060, 3000 CB, Rotterdam, The Netherlands.
Eur Child Adolesc Psychiatry. 2018 Jun;27(6):753-765. doi: 10.1007/s00787-017-1066-z. Epub 2017 Oct 23.
Tuberous Sclerosis Complex (TSC) is characterized by a high prevalence of autism spectrum disorders (ASD). Little is known about the relation between cortical dysplasia and ASD severity in TSC. We assessed ASD severity (using the Autism Diagnostic Observation Scale), tuber and radial migration line (RML) count and location, and cognitive functioning in 52 children with TSC and performed regression and mediation analyses. Tuber and RML count were strongly positively related to ASD severity. However, when correcting for cognitive functioning, the majority of associations became insignificant and only total tuber count remained associated to the severity of restricted/repetitive behaviors. Occipital RML count remained associated with overall ASD severity, and social communication/interaction deficit severity specifically. This study shows the important explanatory role of cognitive functioning in the association between cortical dysplasia and ASD severity, and the relevance of separately studying the two ASD subdomains.
结节性硬化症 (TSC) 的特征是自闭症谱系障碍 (ASD) 的发病率很高。关于 TSC 中皮质发育不良与 ASD 严重程度之间的关系知之甚少。我们评估了 52 名 TSC 儿童的 ASD 严重程度（使用自闭症诊断观察量表）、结节和放射状迁移线 (RML) 的数量和位置，以及认知功能，并进行了回归和中介分析。结节和 RML 的数量与 ASD 严重程度呈强正相关。然而，当校正认知功能时，大多数关联变得不显著，只有总结节计数与受限/重复行为的严重程度相关。枕部 RML 计数与总体 ASD 严重程度以及社交沟通/互动缺陷严重程度特别相关。这项研究表明，认知功能在皮质发育不良与 ASD 严重程度之间的关联中具有重要的解释作用，并且分别研究这两个 ASD 子领域是很重要的。
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