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Multicenter Study
. 2019 Dec 3;2019:5202808.
doi: 10.1155/2019/5202808. eCollection 2019.

Polysomnographic Findings in Fragile X Syndrome Children With EEG Abnormalities

Free PMC article
Multicenter Study

Polysomnographic Findings in Fragile X Syndrome Children With EEG Abnormalities

Marco Carotenuto et al. Behav Neurol. .
Free PMC article


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.

Conflict of interest statement

The authors declare that there is no conflict of interest regarding the publication of this paper.


Figure 1
Figure 1
Example of interictal epileptiform discharges (IEDs) during sleep: a 7-year-old boy affected by fragile X syndrome presented a well-organized background activity, and diffuse and irregular runs of interictal epileptiform discharges featuring high amplitude generalized spikes and sharp waves with anterior predominance, sometimes intermingled with the physiological spindles of sleep.

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