Alaimo Hannah, Geller Eric, Mahalingam Rajeshwari, Rodriguez Andy, Goldberg Rina, Bojko Aviva, Nadkarni Mangala, Joshi Puja, Devinsky Orrin
Institute of Neurology and Neurosurgery at Saint Barnabas Medical Center, United States.
Institute of Neurology and Neurosurgery at Saint Barnabas Medical Center, United States.
Epilepsy Res. 2020 Dec;168:106482. doi: 10.1016/j.eplepsyres.2020.106482. Epub 2020 Oct 14.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder frequently associated with epilepsy and epilepsy is a leading cause of death in ASD patients. Despite growing interest in genetic, neurophysiological and clinical overlaps, data on ictal electroencephalographic (EEG) recordings in ASD are lacking since behavioral disorders often make it difficult to obtain EEG recordings. We examined ictal EEG features in a consecutive series of patients with ASD and epilepsy.
We retrospectively identified 400 consecutive patients with ASD and epilepsy at our Level 4 Epilepsy center between 2015 and 2019; 45 had at least one EEG-recorded seizure captured. Demographics, age of nonfebrile seizure onset, age of ASD diagnosis, language, magnetic resonance imagining findings, genetic testing and EEG studies were reviewed. Seizures were classified by semiologic and electrographic features. Ictal findings were analyzed.
A total of 497 seizures were captured in 45 patients: 20 patients with focal onset epilepsy had 126 seizures (median: 1, range: 1-30), 17 patients with generalized onset epilepsy had 88 seizures (median: 2, range: 1-15), 7 patients with Lennox-Gastaut syndrome had 270 seizures (median: 12, range: 1-74) and one patient had both right hemisphere focal and generalized onsets (12 focal, 1 generalized).
Our study is the first to analyze a large set of ictal data in patients with autism spectrum disorder, a population traditionally difficult to obtain ictal recordings. Our results confirm the diverse spectrum of seizure types and provide clinical-EEG correlates of seizures in ASD patients. Both focal-onset and generalized-onset seizures were recorded, confirming that ASD patients have higher rates of both focal and generalized epilepsy syndromes. Among patients with focal epilepsy, temporal and frontal onsets were frequent, suggesting the possibility of epilepsy surgery or brain stimulation. EEG to classify seizures and epilepsies is critical to determine therapeutic options and effort should be made to obtain EEGs in this heterogenous population.
自闭症谱系障碍（ASD）是一种常与癫痫相关的神经发育障碍，而癫痫是ASD患者的主要死因。尽管人们对基因、神经生理学和临床重叠方面的兴趣日益浓厚，但由于行为障碍常常使得获取脑电图（EEG）记录变得困难，关于ASD患者发作期EEG记录的数据仍然匮乏。我们研究了一系列连续的ASD合并癫痫患者的发作期EEG特征。
我们回顾性地确定了2015年至2019年间在我们的四级癫痫中心连续就诊的400例ASD合并癫痫患者；其中45例患者至少有一次发作被EEG记录到。我们对患者的人口统计学资料、非热性癫痫发作起始年龄、ASD诊断年龄、语言能力、磁共振成像结果、基因检测和EEG研究进行了回顾。根据发作的症状学和脑电图特征对发作进行分类，并对发作期表现进行分析。
45例患者共记录到497次发作：20例局灶性发作癫痫患者有126次发作（中位数：1次，范围：1 - 30次），17例全身性发作癫痫患者有88次发作（中位数：2次，范围：1 - 15次），7例Lennox - Gastaut综合征患者有270次发作（中位数：12次，范围：1 - 74次），1例患者既有右侧半球局灶性发作又有全身性发作（12次局灶性发作，1次全身性发作）。
我们的研究首次分析了大量自闭症谱系障碍患者的发作期数据，这是一个传统上难以获取发作期记录的人群。我们的结果证实了发作类型的多样性，并提供了ASD患者发作的临床 - EEG相关性。局灶性发作和全身性发作均有记录，证实ASD患者局灶性和全身性癫痫综合征的发生率较高。在局灶性癫痫患者中，颞叶和额叶发作较为常见，提示癫痫手术或脑刺激的可能性。EEG对发作和癫痫进行分类对于确定治疗方案至关重要，应努力在这个异质性人群中获取EEG。
