Day 1 :
- Clinical Pediatrics
Location: Berlin , Germany
Session Introduction
Prof. Marco Carotenuto
University of Campania
Title: Neurophysiological findings in a cohort of children with Fragile X Syndrome
Biography:
Marco Carotenuto was born in Italy in 1974 and his great dream was to be a doctor since childhood. In July 2000 he obtained the master's degree of Doctor of Medicine and Surgery at the University of Campania 'Luigi Vanvitelli and began specialist cum laude in Child Neuropsychiatry in October 2005. In February 2008 he obtained a PhD in Behavioral Sciences and Learning Disorders and since November 2018 he works as an Associate Professor of Child Neuropsychiatry at the University of Campania 'Luigi Vanvitelli'. Since November 2022 he has been Director of the School of Specialization in Child Neuropsychiatry. He is the author of about 200 indexed scientific papers. The main fields of investigation concern the diagnostic evaluation and therapeutic management of neurodevelopment disorders with particular attention to infantile autism, sleep disorders, pediatric headaches and epilepsies and neurocognitive and behavioral rehabilitation in children.
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. The present case-control study is aimed at assessing the sleep macrostructure in large 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.