Coryell Jason, Gaillard William D, Shellhaas Renée A, Grinspan Zachary M, Wirrell Elaine C, Knupp Kelly G, Wusthoff Courtney J, Keator Cynthia, Sullivan Joseph E, Loddenkemper Tobias, Patel Anup, Chu Catherine J, Massey Shavonne, Novotny Edward J, Saneto Russel P, Berg Anne T
Departments of Pediatrics and.
Neurology, Oregon Health and Sciences University, Portland, Oregon.
Pediatrics. 2018 Sep;142(3). doi: 10.1542/peds.2018-0672. Epub 2018 Aug 8.
We assessed the adherence to neuroimaging guidelines and the diagnostically relevant yield of neuroimaging in newly presenting early life epilepsy (ELE).
There were 775 children with a new diagnosis of epilepsy (<3 years old at onset) who were recruited through the ELE study at 17 US pediatric epilepsy centers (2012-2015) and managed prospectively for 1 year. The data were analyzed to assess the proportion of children who underwent neuroimaging, the type of neuroimaging, and abnormalities.
Of 725 children (93.5%) with neuroimaging, 714 had an MRI (87% with seizure protocols) and 11 had computed tomography or ultrasound only. Etiologically relevant abnormalities were present in 290 individuals (40%) and included: an acquired injury in 97 (13.4%), malformations of cortical development in 56 (7.7%), and other diffuse disorders of brain development in 51 (7.0%). Neuroimaging was abnormal in 160 of 262 (61%) children with abnormal development at diagnosis versus 113 of 463 (24%) children with typical development. Neuroimaging abnormalities were most common in association with focal seizure semiology (40%), spasms (47%), or unclear semiology (42%). In children without spasms or focal semiology with typical development, 29 of 185 (16%) had imaging abnormalities. Pathogenic genetic variants were identified in 53 of 121 (44%) children with abnormal neuroimaging in whom genetic testing was performed.
Structural abnormalities occur commonly in ELE, and adherence to neuroimaging guidelines is high at US pediatric epilepsy centers. These data support the universal adoption of imaging guidelines because the yield is substantially high, even in the lowest risk group.
我们评估了新诊断的早期癫痫（ELE）患者对神经影像学检查指南的遵循情况以及神经影像学检查在诊断方面的相关产出。
通过美国17家儿科癫痫中心的ELE研究招募了775例新诊断为癫痫（发病时年龄<3岁）的儿童，并对其进行了为期1年的前瞻性管理。分析数据以评估接受神经影像学检查的儿童比例、神经影像学检查类型及异常情况。
在725例（93.5%）接受神经影像学检查的儿童中，714例进行了MRI检查（87%采用癫痫检查方案），11例仅进行了计算机断层扫描或超声检查。290例个体（40%）存在病因相关异常，包括：97例（13.4%）有获得性损伤，56例（7.7%）有皮质发育畸形，51例（7.0%）有其他弥漫性脑发育障碍。诊断时发育异常的262例儿童中有160例（61%）神经影像学检查异常，而典型发育的463例儿童中有113例（24%）神经影像学检查异常。神经影像学异常在伴有局灶性发作症状学（40%）、痉挛（47%）或症状学不明确（42%）的情况下最为常见。在无痉挛或局灶性症状学且发育典型的儿童中，185例中有29例（16%）存在影像学异常。在121例进行了基因检测且神经影像学检查异常的儿童中，53例（44%）鉴定出致病基因变异。
ELE中结构异常常见，美国儿科癫痫中心对神经影像学检查指南的遵循率较高。这些数据支持普遍采用影像学检查指南，因为即使在风险最低的组中，产出也相当高。
