Pelc Karine, Cheron Guy, Boyd Stewart G, Dan Bernard
Department of Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, 15 Avenue JJ Crocq, Brussels, Belgium.
Sleep Med. 2008 May;9(4):434-41. doi: 10.1016/j.sleep.2007.07.001. Epub 2007 Aug 31.
Angelman syndrome is a neurogenetic condition characterized by developmental delay, absence of speech, motor impairment, epilepsy and a peculiar behavioral phenotype that includes sleep problems. It is caused by lack of expression of the UBE3A gene on the maternal chromosome 15q11-q13. Although part of the diagnostic description, 'sleep problems' are not well characterized. A pattern emerges from the available reports. It includes reduced total sleep time, increased sleep onset latency, disrupted sleep architecture with frequent nocturnal awakenings, reduced rapid eye movement (REM) sleep and periodic leg movements. Poor sleep does not significantly interfere with daytime alertness and sleep problems commonly diminish by late childhood, with continuing improvement through adolescence and adulthood. Sleep problems in Angelman syndrome reflect abnormal neurodevelopmental functioning presumably involving dysregulation of GABA-mediated inhibitory influences in thalamocortical interactions. Management may be difficult, particularly in young children; it primarily involves behavioral approaches, though pharmacological treatment may be required. The relationship between sleep and seizure disorder, and between sleep and learning raises critical questions, but more studies are needed to address these relationships adequately.
安吉尔曼综合征是一种神经遗传性疾病,其特征为发育迟缓、无语言能力、运动障碍、癫痫以及包括睡眠问题在内的特殊行为表型。它是由母源15号染色体q11-q13区域UBE3A基因表达缺失所致。尽管“睡眠问题”是诊断描述的一部分,但对其特征的描述并不充分。现有报告呈现出一种模式,包括总睡眠时间减少、入睡潜伏期延长、睡眠结构紊乱且夜间频繁觉醒、快速眼动(REM)睡眠减少以及周期性腿部运动。睡眠不佳并不会显著影响白天的警觉性,睡眠问题通常在儿童晚期会有所减轻,并在青少年期及成年期持续改善。安吉尔曼综合征中的睡眠问题反映了异常的神经发育功能,推测涉及丘脑皮质相互作用中γ-氨基丁酸(GABA)介导的抑制性影响失调。管理可能较为困难,尤其是对幼儿而言;主要采用行为方法,不过可能需要药物治疗。睡眠与癫痫障碍之间以及睡眠与学习之间的关系引发了关键问题,但需要更多研究来充分探讨这些关系。