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15q11.2 - 13.1染色体重复(Dup15q)患儿睡眠期间的脑电图模式。

Electroencephalographic patterns during sleep in children with chromosome 15q11.2-13.1 duplications (Dup15q).

作者信息

Arkilo Dimitrios, Devinsky Orrin, Mudigoudar Basanagoud, Boronat Susana, Jennesson Melanie, Sassower Kenneth, Vaou Okeanis Eleni, Lerner Jason T, Jeste Shafali Spurling, Luchsinger Kadi, Thibert Ronald

机构信息

Minnesota Epilepsy Group, PA-Children's Hospitals and Clinics of Minnesota, 225 Smith Ave. N, St. 201, St. Paul, MN 55102, USA.

Department of Neurology, NYU Langone Medical Center, New York University, 240 East 38th Street, 20th floor, New York, NY 10016, USA.

出版信息

Epilepsy Behav. 2016 Apr;57(Pt A):133-136. doi: 10.1016/j.yebeh.2016.02.010. Epub 2016 Mar 3.

Abstract

Our objective was to define the EEG features during sleep of children with neurodevelopmental disorders due to copy number gains of 15q11-q13 (Dup15q). We retrospectively reviewed continuous EEG recordings of 42 children with Dup15q (mean age: eight years, 32 with idic15), and data collected included background activity, interictal epileptiform discharges, sleep organization, and ictal activity. Three patterns were recognized: Pattern 1: Alpha–delta sleep was noted in 14 children (33%), not associated with any clinical changes. Pattern 2: Electrical status epilepticus in sleep was noted in 15 children (35%), all diagnosed with treatmentresistant epilepsy. Thirteen of the 15 children had clinical seizures. Pattern 3: Frequent bursts of high amplitude bifrontal predominant, paroxysmal fast activity (12–15 Hz) during non-REM sleep was noted in 15 children (35%). All 15 children had treatment-resistant epilepsy. This is the first report of electroencephalographic patterns during sleep of children with Dup15q reporting alpha-delta rhythms, CSWS, and high amplitude fast frequencies. Alpha-delta rhythms are described in children with dysautonomia and/or mood disorders and CSWS in children with developmental regression. The significance of these findings in cognitive function and epilepsy for the children in our cohort needs to be determined with follow-up studies.

摘要

我们的目标是明确因15q11 - q13拷贝数增加(Dup15q)导致神经发育障碍的儿童睡眠期间的脑电图特征。我们回顾性分析了42例Dup15q儿童(平均年龄:8岁,其中32例为idic15)的连续脑电图记录,收集的数据包括背景活动、发作间期癫痫样放电、睡眠结构和发作期活动。识别出三种模式:模式1:14名儿童(33%)出现α - δ睡眠,与任何临床变化均无关联。模式2:15名儿童(35%)出现睡眠中癫痫性电持续状态,均被诊断为难治性癫痫。这15名儿童中有13名有临床发作。模式3:15名儿童(35%)在非快速眼动睡眠期间出现频繁的高幅双额为主的阵发性快活动(12 - 15赫兹)。这15名儿童均为难治性癫痫。这是首次报道Dup15q儿童睡眠期间的脑电图模式,包括α - δ节律、CSWS和高幅快频率。α - δ节律在自主神经功能障碍和/或情绪障碍儿童中有所描述,CSWS在发育倒退儿童中有所描述。我们队列中这些发现对儿童认知功能和癫痫的意义需要通过后续研究来确定。

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