Fragile X syndrome (FXS) is a genetic syndrome with intellectual disability due to the loss of expression of the FMR1 gene located on chromosome X (Xq27.3). This mutation can suppress the fragile X mental retardation protein (FMRP) with an impact on synaptic functioning and neuronal plasticity. Among associated sign and symptoms of this genetic condition, sleep disturbances have been already described, but few polysomnographic reports in pediatric age have been reported. This multicenter case-control study is aimed at assessing the sleep macrostructure and at analyzing the presence of EEG abnormalities in a cohort of FXS children. We enrolled children with FXS and, as controls, children with typical development. All subjects underwent at least 1 overnight polysomnographic recording (PSG). All recorded data obtained from patients and controls were compared. In children with FXS, all PSG-recorded parameters resulted pathological values compared to those obtained from controls, and in FXS children only, we recorded interictal epileptiform discharges (IEDs), as diffuse or focal spikes and sharp waves, usually singles or in brief runs with intermittent or occasional incidence. A possible link between IEDs and alterations in the circadian sleep-wake cycle may suggest a common dysregulation of the balance between inhibitory and excitatory pathways in these patients. The alteration in sleep pattern in children with FXS may negatively impact the neuropsychological and behavioral functioning, adding increasing burn of the disease on the overall management of these patients. In this regard, treating physicians have to early detect sleep disturbances in their patients for tailored management, in order to prevent adjunctive comorbidities.

中文翻译：

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易碎X综合征儿童脑电图异常的多导睡眠图检查结果

脆性X综合征（FXS）是由于位于X染色体（Xq27.3）上的FMR1基因表达缺失而导致智力残疾的遗传综合征。这种突变可以抑制脆弱的X智力障碍蛋白（FMRP），并影响突触功能和神经元可塑性。在这种遗传病的相关体征和症状中，已经描述了睡眠障碍，但在儿童时代很少有多导睡眠图报告。这项多中心病例对照研究旨在评估一组儿童的睡眠宏观结构并分析其脑电图异常的存在。我们招募了患有FXS的儿童，并作为具有典型发育状况的儿童作为对照。所有受试者均进行了至少1次夜间多导睡眠图记录（PSG）。比较从患者和对照获得的所有记录数据。在FXS患儿中，所有PSG记录的参数与从对照组获得的参数相比，均得到病理学值，并且仅在FXS患儿中，我们记录了间质癫痫样放电（IED），表现为弥漫性或局灶性尖峰和尖锐波，通常为单次或短暂运行间歇性或偶发性。IED与昼夜节律觉醒周期改变之间的可能联系可能暗示这些患者中抑制性途径和兴奋性途径之间的平衡失调是常见的。FXS儿童的睡眠方式改变可能会对神经心理和行为功能产生负面影响，从而增加疾病的烧伤率，对这些患者的整体治疗产生影响。在这方面，