Bonanni Paolo, Negrin Susanna, Volzone Anna, Zanotta Nicoletta, Epifanio Roberta, Zucca Claudio, Osanni Elisa, Petacchi Elisa, Fabbro Franco
Epilepsy and Clinical Neurophysiology Unit, IRCCS "E. Medea", Conegliano, Treviso, Italy.
Epilepsy and Clinical Neurophysiology Unit, IRCCS "E. Medea", Conegliano, Treviso, Italy.
Brain Dev. 2017 Oct;39(9):727-734. doi: 10.1016/j.braindev.2017.04.013. Epub 2017 May 10.
Mowat-Wilson Syndrome (MWS) is a genetic rare disease. Epilepsy is present in 70-75% of Patients and an age-dependent electroclinical pattern has been described. Up to date, there are studies with overnight sleep EEGs, probably because of the severe intellectual disability (ID) and hyperactivity of these Patients. Our purpose was to verify the hypothesis that MWS Patients might have electrical status epilepticus in slow wave sleep (ESES pattern).
A retrospective analysis of anamnestic and electrographic data was performed on 7 consecutive MWS Patients followed between 2007 and 2016. Only Patients with at least one overnight sleep EEG were included in the study.
Five out of 7 Patients had overnight sleep EEG studies and were included in this study. All of them had an anterior ESES pattern with spike-and-wave index>85%. The architecture of sleep was abnormal. An ESES related regression of cognitive and motor functions with impact on daily activities (ESES-related syndrome) was demonstrated in 3 out of 5 (60%) Patients. In two Patients marked improvement of cognitive and motor performances was observed when the epileptiform activity during sleep was successfully controlled or it was spontaneously reduced.
The clinical significance of the ESES pattern is hard to assess in MWS Patients due to severe ID, but changing in behaviour or in motor and cognitive functions should mandate sleep EEG investigation and, if ESES is present, an appropriate treatment should be tried. Furthermore, overnight sleep EEG recordings, if regularly performed in the follow up, might help to understand if ESES pattern hampers the cognitive and communicative profile in MWS.
莫瓦特-威尔逊综合征（MWS）是一种罕见的遗传病。70%-75%的患者存在癫痫，且已描述了一种年龄依赖性的电临床模式。迄今为止，有关于夜间睡眠脑电图的研究，可能是因为这些患者存在严重的智力残疾和多动。我们的目的是验证MWS患者可能存在慢波睡眠期癫痫性电持续状态（ESES模式）这一假设。
对2007年至2016年期间随访的7例连续MWS患者的回忆性资料和脑电图数据进行回顾性分析。本研究仅纳入至少有一次夜间睡眠脑电图的患者。
7例患者中有5例进行了夜间睡眠脑电图检查并纳入本研究。所有患者均有前头部ESES模式，棘波-慢波指数>85%。睡眠结构异常。5例患者中有3例（60%）出现了与ESES相关的认知和运动功能减退，并影响日常活动（ESES相关综合征）。在2例患者中，当睡眠期癫痫样活动得到成功控制或自发减少时，观察到认知和运动表现有明显改善。
由于严重的智力残疾，ESES模式在MWS患者中的临床意义难以评估，但行为、运动和认知功能的改变应进行睡眠脑电图检查，如果存在ESES，应尝试适当的治疗。此外，如果在随访中定期进行夜间睡眠脑电图记录，可能有助于了解ESES模式是否会影响MWS患者的认知和交流情况。
