From the Epilepsy Center, Neurology (A.T.B.), and Hematology-Oncology (S.G.), Ann & Robert H Lurie Children's Hospital of Chicago, IL.
Neurology. 2018 May 1;90(18):842-848. doi: 10.1212/WNL.0000000000005423. Epub 2018 Apr 4.
Early-life epilepsies represent a group of many individually rare and often complex developmental brain disorders associated with lifelong devastating consequences and high risk for early mortality. The quantity and quality of evidence needed to guide the evaluation and treatment to optimize outcomes of affected children is minimal; most children are treated within an evidence-free practice zone based solely on anecdote and lore. The remarkable advances in diagnostics and therapeutics are implemented haphazardly with no systematic effort to understand their effects and value. This stands in stark contrast to the evidence-rich practice of the Children's Oncology Group, where standard of care treatments are identified through rigorous, multicenter research studies, and the vast majority of patients are treated on protocols developed from that research. As a consequence, overall mortality for childhood cancers has declined from ∼90% in the 1950s to ∼20% today. The situations of these 2 rare disease specialties are contrasted, and some suggestions for moving early-life epilepsy onto a fast track for success are offered. Chief amongst these is that early-life epilepsy should be treated with the same urgency as pediatric cancer. The best diagnostics and evidence-based treatments should be used in a systematic fashion right from the start, not after the child and family have been subjected to the ravages of the disorder for months or years. This will require unity and cooperation among physicians, researchers, and institutions across state and national borders.
早发性癫痫是一组多种罕见的、常常复杂的发育性脑疾病，会导致终生灾难性的后果，且患儿早期死亡风险较高。目前指导评估和治疗以优化患儿结局所需的证据数量和质量非常有限；大多数患儿的治疗都是在没有任何证据的情况下进行的，仅仅基于传闻和传统知识。诊断和治疗方面的显著进展是随机实施的，没有系统地评估其效果和价值。这与儿童肿瘤学组（Children's Oncology Group）丰富的循证实践形成鲜明对比，该组织通过严格的多中心研究确定了标准治疗方法，并且绝大多数患儿都按照该研究制定的方案进行治疗。因此，儿童癌症的总体死亡率已从 20 世纪 50 年代的约 90%降至今天的约 20%。本文对比了这两个罕见病专科的情况，并提出了一些将早发性癫痫纳入快速成功轨道的建议。其中最重要的是，应该像治疗儿科癌症一样紧急治疗早发性癫痫。最好的诊断方法和循证治疗方法应该从一开始就系统地使用，而不是在孩子和家人已经遭受疾病折磨数月或数年之后。这将需要州和国家边界内的医生、研究人员和机构之间的团结与合作。
