% 0期刊文章% A.L. Numis % p主要%一个D.A. Muzykewicz硕士黑山% %一个电子艺界Thiele M.B. Pulsifer % % T自闭症谱系障碍的风险因素的识别在结节性硬化症复杂% D R 10.1212 / WNL 2011%。0 b013e3182104347 % 首页J神经病学% P 981 - 987 X % V 76% N 11%目的:本研究的目的是评估和识别的患病率的流行病学,遗传、电生理学的,解剖自闭症谱系障碍(ASD)的危险因素在一群患者复杂结节性硬化症(TSC)。方法:共有103名患者对ASD TSC进行评估。回顾性研究病人的记录进行,包括突变分析。脑电图的报告分析了发作的和发作癫痫样的特性。TSC神经病理学的大脑核磁共振扫描进行了评估,包括块茎的负担。结果:103年的TSC患者,40%被诊断出患有自闭症。在单变量分析,ASD患者不太可能TSC1基因的突变。自闭症患者也有早期癫痫发病年龄和更频繁的癫痫发作。在脑电图,ASD患者的发作的数量要大得多只在左颞叶癫痫样的特性。 On MRI, there were no differences in the regional distribution of tuber burden, although those with TSC2 and ASD had a higher prevalence of cyst-like tubers. Conclusions: The development of ASD in TSC is not well understood. Given our findings, ASD may be associated with persistent seizure activity early in development in particular brain regions, such as those responsible for social perception and communication in the left temporal lobe. The presence of cyst-like tubers on MRI could provide a structural basis or marker for ASD pathology in TSC, although studies assessing their effect on cortical function are needed. %U //www.ez-admanager.com/content/neurology/76/11/981.full.pdf