Paediatric Neurology Division, Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Cape Town, South Africa, Neurosciences Institute, University of Cape Town, South Africa.
Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesu' Children's Hospital, IRCCS, Rome, Italy, Member of the European Reference Network EpiCARE.
Epileptic Disord. 2021 Feb 1;23(1):40-52. doi: 10.1684/epd.2021.1244.
The term "developmental and epileptic encephalopathy" (DEE) refers to when cognitive functions are influenced by both seizure and interictal epileptiform activity and the neurobiological process behind the epilepsy. Many DEEs are related to gene variants and the onset is typically during early childhood. In this setting, neurocognition, whilst not improved by seizure control, may benefit from some precision therapies. In patients with non-progressive diseases with cognitive impairment and co-existing epilepsy, in whom the epileptiform activity does not affect or has minimal effect on function, the term "developmental encephalopathy" (DE) can be used. In contrast, for those patients with direct impact on cognition due to epileptic or epileptiform activity, the term "epileptic encephalopathy" (EE) is preferred, as most can revert to their normal or near normal baseline cognitive state with appropriate intervention. These children need aggressive treatment. Clinicians must tailor care towards individual needs and realistic expectations for each affected person; those with DE are unlikely to gain from aggressive antiseizure medication whilst those with EE will gain. Patients with DEE might benefit from a precision medicine approach in order to reduce the overall burden of epilepsy.
“发育性和癫痫性脑病”（DEE）是指认知功能受到发作和发作间期痫样放电的影响，以及癫痫背后的神经生物学过程。许多 DEE 与基因突变有关，发病通常在儿童早期。在这种情况下，神经认知功能虽然不能通过控制癫痫发作得到改善，但可能受益于某些精准治疗。在认知障碍合并癫痫且癫痫样放电对功能没有影响或影响极小的非进行性疾病患者中，可以使用“发育性脑病”（DE）这一术语。相比之下，对于那些由于癫痫或癫痫样放电而直接影响认知的患者，首选“癫痫性脑病”（EE），因为大多数患者如果接受适当的干预，可以恢复到正常或接近正常的认知基线状态。这些患儿需要积极治疗。临床医生必须根据每个患者的个体需求和现实期望来调整治疗方案；患有 DE 的患儿不太可能从积极的抗癫痫药物治疗中获益，而患有 EE 的患儿则可能获益。DEE 患者可能受益于精准医疗方法，以减轻癫痫的整体负担。
