Laan L A, Brouwer O F, Begeer C H, Zwinderman A H, van Dijk J G
Department of Neurology, Leiden University Medical Center, The Netherlands.
Electroencephalogr Clin Neurophysiol. 1998 May;106(5):404-8. doi: 10.1016/s0013-4694(98)00007-8.
We determined the diagnostic value of the EEG in young children with Angelman syndrome (AS) and Rett syndrome (RS). EEGs, recorded before 5 years of age, of 10 patients with AS, 10 with RS and 10 with mental retardation of other origin were studied blindly by two examiners for the presence of the following items: (A) 4-6 Hz rhythmic activity of over 200 microV; (B) 2-3 Hz frontal activity of 200-500 microV; (C) posterior spikes; (D) triphasic frontal waves; (E) central and/or centro-temporal spike-wave complexes; and (F) other epileptic discharges. Based on these items the EEGs were scored as AS (A-D); RS (E-F); or other. Examiners never made a mistake between AS and RS. One examiner labeled 6 of 10 AS cases correctly, the other 5; 4 (5) were characterized as 'other.' In RS cases 5 were labeled as 'other' by the first examiner and 3 by the second one. We conclude that EEG patterns of AS and RS are sufficiently different to help differentiate between AS and RS at a young age, which has a bearing on genetic counseling.
我们确定了脑电图(EEG)在患有天使综合征(AS)和雷特综合征(RS)的幼儿中的诊断价值。两名检查人员对10例AS患儿、10例RS患儿以及10例其他原因导致智力发育迟缓的患儿在5岁之前记录的脑电图进行了盲法研究,观察是否存在以下特征:(A)超过200微伏的4 - 6赫兹节律性活动;(B)200 - 500微伏的2 - 3赫兹额叶活动;(C)后部尖波;(D)三相额叶波;(E)中央和/或中央颞区棘慢复合波;以及(F)其他癫痫样放电。根据这些特征,脑电图被分为AS型(A - D);RS型(E - F);或其他类型。检查人员在区分AS和RS时从未出错。一名检查人员正确标记了10例AS病例中的6例,另一名标记了5例;4(5)例被归类为“其他”。在RS病例中,第一名检查人员将5例标记为“其他”,第二名检查人员将3例标记为“其他”。我们得出结论,AS和RS的脑电图模式差异足够大,有助于在幼儿期区分AS和RS,这对遗传咨询具有重要意义。