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Polysomnographic Findings in Fragile X Syndrome Children with EEG Abnormalities
Marco Carotenuto1, Michele Roccella2, Francesco Pisani3
1Sleep Lab for Developmental Age, Clinic of Child and Adolescent Neuropsychiatry, Department of Mental Health, Physical and Preventive Medicine, University of Campania "Luigi Vanvitelli", Napoli, Italy.
Insights
Children with Fragile X syndrome (FXS) exhibit significant sleep macrostructure alterations and EEG abnormalities, including interictal epileptiform discharges (IEDs). Early detection of these sleep disturbances is crucial for managing FXS comorbidities.
Area of Science:
- Genetics
- Neuroscience
- Sleep Medicine
Background:
- Fragile X syndrome (FXS) is a genetic disorder caused by FMR1 gene silencing, impacting FMRP production and leading to intellectual disability.
- Sleep disturbances are recognized symptoms of FXS, yet detailed polysomnographic (PSG) data in pediatric populations remain scarce.
- Understanding sleep alterations in FXS is vital for addressing associated neurodevelopmental and behavioral challenges.
Purpose of the Study:
- To evaluate sleep macrostructure using PSG in children with FXS.
- To identify and analyze EEG abnormalities in pediatric FXS patients.
- To compare sleep patterns and EEG findings between children with FXS and typically developing controls.
Main Methods:
- A multicenter case-control study involving children with FXS and age-matched controls with typical development.
- Overnight polysomnographic (PSG) recordings were conducted for all participants.
- Analysis focused on comparing sleep parameters and identifying EEG abnormalities, such as interictal epileptiform discharges (IEDs).
Main Results:
- Children with FXS demonstrated pathological values across all PSG-recorded sleep parameters compared to controls.
- Interictal epileptiform discharges (IEDs), including diffuse or focal spikes and sharp waves, were exclusively observed in children with FXS.
- A potential link between IEDs and circadian sleep-wake cycle alterations suggests dysregulation of inhibitory and excitatory pathways in FXS.
Conclusions:
- Pediatric FXS is characterized by significant sleep macrostructure disruption and the presence of IEDs.
- Altered sleep patterns in FXS may exacerbate neuropsychological and behavioral issues, increasing the disease burden.
- Early identification and management of sleep disturbances are essential for comprehensive FXS patient care and preventing comorbidities.
Abstract:
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.
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