Author/Authors :
Carotenuto, Marco Sleep Lab for Developmental Age - Clinic of Child and Adolescent Neuropsychiatry - Department of Mental Health - Physical and Preventive Medicine - University of Campania Luigi Vanvitelli, Italy , Roccella, Michele Department of Psychology - Educational and Science and Human Movement - University of Palermo, Italy , Pisani, Francesco Child Neuropsychiatry Unit - Medicine & Surgery Department - University of Parma, Italy , Matricardi, Sara Department of Neuropsychiatry - Children’s Hospital G. Salesi - Ospedali Riuniti Ancona, Italy , Verrotti, Alberto Department of Pediatrics - University of L’Aquila, Italy , Farello, Giovanni Pediatric Clinic - Department of Life - Health and Environmental Sciences - University of L’Aquila, Italy , Felicia Operto, Francesca Child Neuropsychiatry Unit - Department of Medicine - Surgery and Odontostomatology - University of Salerno, Italy , Bitetti, Ilaria Sleep Lab for Developmental Age - Clinic of Child and Adolescent Neuropsychiatry - Department of Mental Health - Physical and Preventive Medicine - University of Campania Luigi Vanvitelli, Italy , Precenzano, Francesco Sleep Lab for Developmental Age - Clinic of Child and Adolescent Neuropsychiatry - Department of Mental Health - Physical and Preventive Medicine - University of Campania Luigi Vanvitelli, Italy , Messina, Giovanni Department of Clinical and Experimental Medicine - University of Foggia, Italy , Ruberto, Maria CDR Santa Maria del Pozzo - Somma Vesuviana, Italy , Ciunfrini, Cristiana Sleep Lab for Developmental Age - Clinic of Child and Adolescent Neuropsychiatry - Department of Mental Health - Physical and Preventive Medicine - University of Campania Luigi Vanvitelli, Italy , Riccardi, Mariagrazia Sleep Lab for Developmental Age - Clinic of Child and Adolescent Neuropsychiatry - Department of Mental Health - Physical and Preventive Medicine - University of Campania Luigi Vanvitelli, Italy , Merolla, Eugenio Sleep Lab for Developmental Age - Clinic of Child and Adolescent Neuropsychiatry - Department of Mental Health - Physical and Preventive Medicine - University of Campania Luigi Vanvitelli, Italy , Giovanna Pastorino, Grazia Maria Sleep Lab for Developmental Age - Clinic of Child and Adolescent Neuropsychiatry - Department of Mental Health - Physical and Preventive Medicine - University of Campania Luigi Vanvitelli, Italy , Polito, Anna Nunzia Complex Structure of Neuropsychiatry Childhood-Adolescence of Ospedali Riuniti of Foggia, Italy , Marotta, Rosa Department of Medical and Surgical Sciences - University Magna Graecia, Catanzaro, Italy
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.
