Miano Silvia, Bruni Oliviero, Elia Maurizio, Musumeci Sebastiano A, Verrillo Elisabetta, Ferri Raffaele
Sleep Research Centre, Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, Italy.
Clin Neurophysiol. 2005 Nov;116(11):2685-92. doi: 10.1016/j.clinph.2005.08.005. Epub 2005 Oct 6.
The aim of this study was to evaluate the sleep breathing patterns and to detect the eventual presence of periodic leg movements (PLMs) in patients affected by Angelman syndrome (AS).
Ten children with AS were recruited to participate in the study; the clinical diagnosis was confirmed by the genetic analysis (maternal 15q deletion, uniparental paternal disomy, or mutation of the UBE3A gene). All patients but two had presented epileptic seizures. Two age-matched groups of patients with mental retardation (MR) associated (MRE+) or not (MRE-) to epilepsy were used as control groups. All subjects underwent one polysomnographic recording, after one adaptation night. Sleep stages were scored according to standard criteria slightly modified in order to take into account the specific EEG patterns of AS, also the apnea/hypopnea index (AHI) was quantified; PLMs were identified and the PLM index (PLMI) was computed. The statistical analysis was carried out by means of the one-way ANOVA, followed by the Fisher LSD post-hoc test, when appropriate, and by means of the linear correlation coefficient between AHI and PLMI.
Sleep macrostructure showed only few significant differences between children with AS and the other two groups of subjects: AS patients showed higher percentage of wakefulness after sleep onset and sleep onset latency; moreover, the percentage of REM sleep was reduced in AS and in MRE+ subjects. A tendency for AS subjects to present a higher PLMI than the other two groups was also found. AHI >5 was found in 30% of AS subjects, in 30.8% of MRE+, and only in 20% of MRE- patients (chi(2) = 2.359, NS); 70% of AS patients, 38.5% of MRE+, and 46.7% of MRE- subjects had PLMI >5 (chi(2) = 3.088, NS).
These results confirm our previous questionnaire-based findings of a high prevalence of sleep breathing disorder and important PLMs in AS and allow us to hypothesize that epilepsy, rather than mental retardation, might exacerbate these sleep disorders.
Sleep breathing disorder and PLMs might contribute to the cognitive impairment and to the worsening of life quality of subjects with AS and with MR (mostly those with epilepsy). Therefore, our findings suggest the need to explore these sleep disorders in children affected by MR and to set up a correct treatment.
本研究旨在评估安吉尔曼综合征（AS）患者的睡眠呼吸模式，并检测是否存在周期性腿部运动（PLMs）。
招募了10名患有AS的儿童参与研究；临床诊断通过基因分析（母源15q缺失、单亲二体或UBE3A基因突变）得以证实。除两名患者外，所有患者均有癫痫发作。将两组年龄匹配的与癫痫相关（MRE+）或不相关（MRE-）的智力障碍（MR）患者作为对照组。所有受试者在经过一个适应夜后进行一次多导睡眠图记录。睡眠阶段根据标准标准进行评分，并稍作修改以考虑AS的特定脑电图模式，同时对呼吸暂停/低通气指数（AHI）进行量化；识别PLMs并计算PLM指数（PLMI）。统计分析采用单因素方差分析，必要时采用Fisher LSD事后检验，并通过AHI与PLMI之间的线性相关系数进行。
睡眠宏观结构显示，AS患儿与其他两组受试者之间仅有少数显著差异：AS患者睡眠开始后清醒时间百分比和睡眠开始潜伏期较高；此外，AS患者和MRE+受试者的快速眼动睡眠百分比降低。还发现AS受试者的PLMI有高于其他两组的趋势。30%的AS受试者、30.8%的MRE+受试者和仅20%的MRE-患者AHI>5（χ² = 2.359，无显著性差异）；70%的AS患者、38.5%的MRE+受试者和46.7%的MRE-受试者PLMI>5（χ² = 3.088，无显著性差异）。
这些结果证实了我们之前基于问卷的研究结果，即AS患者睡眠呼吸障碍和重要PLMs的高患病率，并使我们能够假设癫痫而非智力障碍可能会加剧这些睡眠障碍。
睡眠呼吸障碍和PLMs可能导致AS和MR患者（主要是癫痫患者）的认知障碍和生活质量恶化。因此，我们的研究结果表明需要在受MR影响的儿童中探索这些睡眠障碍并建立正确的治疗方法。
