Polysomnographic Findings in Fragile X Syndrome Children with EEG Abnormalities
Polysomnographic Findings in Fragile X Syndrome Children with EEG Abnormalities
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DOI：
10.1155/2019/5202808
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发表时间：
2019-12-03
影响因子：
2.8
通讯作者：
Marotta, Rosa
中科院分区：
文献类型：
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作者：
Carotenuto, Marco;Roccella, Michele;Marotta, Rosa
脆性X综合征（FXS）是一种遗传性综合征，由于位于X染色体（Xq27.3）上的FMR 1基因表达缺失而导致智力残疾。这种突变可以抑制脆性X智力低下蛋白（FMRP），影响突触功能和神经元可塑性。在这种遗传性疾病的相关体征和症状中，睡眠障碍已经被描述，但很少有儿科年龄的多导睡眠图报告。这项多中心病例对照研究的目的是评估睡眠的宏观结构，并在分析存在的脑电图异常的FXS儿童队列。我们招募了患有FXS的儿童，并作为对照组，有典型发育的儿童。所有受试者均接受至少1次过夜多导睡眠图记录（PSG）。比较从患者和对照组获得的所有记录数据。在FXS儿童中，所有PSG记录的参数与对照组相比均导致病理值，仅在FXS儿童中，我们记录了发作间期癫痫样放电（IEDs），表现为弥漫性或局灶性棘波和尖波，通常为单次或间歇性或偶尔发生的短暂放电。简易爆炸装置和昼夜睡眠-觉醒周期改变之间的可能联系可能表明这些患者中抑制性和兴奋性通路之间的平衡失调。患有FXS的儿童睡眠模式的改变可能会对神经心理和行为功能产生负面影响，增加了这些患者的整体管理中疾病的烧伤。在这方面，治疗医生必须早期检测患者的睡眠障碍，以进行量身定制的管理，以防止并发症。
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.