Santarone Marta Elena, Zambrano Stefania, Zanotta Nicoletta, Mani Elisa, Minghetti Sara, Pozzi Marco, Villa Laura, Molteni Massimo, Zucca Claudio
Psychopathology Department, IRCCS E. Medea, 23842 Bosisio Parini, Italy.
Clinical Neurophysiology Unit, IRCCS E. Medea, 23842 Bosisio Parini, Italy.
Brain Sci. 2023 Feb 17;13(2):345. doi: 10.3390/brainsci13020345.
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder that can be associated with intellectual disability (ID) and epilepsy (E). The etiology and the pathogenesis of this disorder is in most cases still to be clarified. Several studies have underlined that the EEG recordings in children with these clinical pictures are abnormal, however the precise frequency of these abnormalities and their relationship with the pathogenic mechanisms and in particular with epileptic seizures are still unknown. We retrospectively reviewed 292 routine polysomnographic EEG tracings of preschool children (age < 6 years) who had received a first multidisciplinary diagnosis of ASD according to DSM-5 clinical criteria. Children (mean age: 34.6 months) were diagnosed at IRCCS E. Medea (Bosisio Parini, Italy). We evaluated: the background activity during wakefulness and sleep, the presence and the characteristics (focal or diffuse) of the slow-waves abnormalities and the interictal epileptiform discharges. In 78.0% of cases the EEG recordings were found to be abnormal, particularly during sleep. Paroxysmal slowing and epileptiform abnormalities were found in the 28.4% of the subjects, confirming the high percentage of abnormal polysomnographic EEG recordings in children with ASD. These alterations seem to be more correlated with the characteristics of the underlying pathology than with intellectual disability and epilepsy. In particular, we underline the possible significance of the prevalence of EEG abnormalities during sleep. Moreover, we analyzed the possibility that EEG data reduces the ASD clinical heterogeneity and suggests the exams to be carried out to clarify the etiology of the disorder.
自闭症谱系障碍(ASD)是一种复杂的神经发育障碍,可能与智力残疾(ID)和癫痫(E)相关。在大多数情况下,这种疾病的病因和发病机制仍有待阐明。多项研究强调,患有这些临床表现的儿童的脑电图记录是异常的,然而这些异常的精确频率及其与致病机制特别是与癫痫发作的关系仍然未知。我们回顾性分析了292例根据DSM-5临床标准首次接受多学科诊断为ASD的学龄前儿童(年龄<6岁)的常规多导睡眠脑电图记录。这些儿童(平均年龄:34.6个月)在意大利博西奥帕里尼的IRCCS E. Medea接受诊断。我们评估了:清醒和睡眠期间的背景活动、慢波异常的存在及其特征(局灶性或弥漫性)以及发作间期癫痫样放电。在78.0%的病例中,脑电图记录被发现异常,尤其是在睡眠期间。28.4%的受试者出现阵发性减慢和癫痫样异常,证实了ASD儿童多导睡眠脑电图记录异常的高比例。这些改变似乎与潜在病理特征的相关性比与智力残疾和癫痫的相关性更大。特别是,我们强调了睡眠期间脑电图异常发生率的可能意义。此外,我们分析了脑电图数据减少ASD临床异质性的可能性,并提出了为阐明该疾病病因而应进行的检查。