Child Neuropsychiatry Unit, Medicine & Surgery Department, Neuroscience Division, University of Parma, Parma, Italy.
Child Neurology Unit, Presidio Ospedaliero Provinciale Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, viale Risorgimento 80, 42123, Reggio Emilia, Italy.
Curr Neurol Neurosci Rep. 2020 Mar 12;20(4):6. doi: 10.1007/s11910-020-1027-7.
Although differentiating neonatal-onset epilepsies from acute symptomatic neonatal seizures has been increasingly recognized as crucial, existing guidelines, and recommendations on EEG monitoring are mainly based on acute symptomatic seizures, especially secondary to hypoxic-ischemic encephalopathy. We aimed to narratively review current knowledge on neonatal-onset epilepsies of genetic, metabolic, and structural non-acquired origin, with special emphasis on EEG features and monitoring.
A wide range of rare conditions are increasingly described, reducing undiagnosed cases. Although distinguishing features are identifiable in some, how to best monitor and detect less described etiologies is still an issue. A comprehensive approach considering onset, seizure evolution, ictal semiology, clinical, laboratory, EEG, and neuroimaging data is key to diagnosis. Phenotypic variability prevents precise recommendations, but a solid, consistent method moving from existing published guidelines helps in correctly assessing these newborns in order to provide better care, especially in view of expanding precision therapies.
尽管将新生儿起病的癫痫与急性症状性新生儿惊厥区分开来已日益受到重视,但现有的脑电图监测指南和推荐主要基于急性症状性惊厥,特别是继发于缺氧缺血性脑病的惊厥。我们旨在叙述性地综述遗传、代谢和结构性非获得性病因的新生儿起病癫痫的现有知识,特别强调脑电图特征和监测。
越来越多的罕见疾病被描述,从而减少了未确诊的病例。尽管在某些疾病中可以识别出特征性表现,但如何最好地监测和发现描述较少的病因仍然是一个问题。一种综合的方法,考虑到发作、惊厥演变、发作期半侧化、临床、实验室、脑电图和神经影像学数据,是诊断的关键。表型变异性使得无法做出精确的建议,但从现有的已发表指南出发,采用一种可靠且一致的方法有助于正确评估这些新生儿,以便提供更好的护理,特别是考虑到精准治疗的不断发展。