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Session Schedule

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0:00:00
Introduction

0:01:06
Genetic convergence between sleep and neurodevelopment
Mariana Moyses-Oliveira (Brazil)

0:21:50
Circadian and sleep alterations in neurogenetic disorders
Karen Spruyt (France)

0:57:39
Broad impact of sleep disturbances in genetic syndromes: Who takes care of the caregiver?
Gustavo Moreira (Brazil)

1:16:31
Question and answer

Summary
Sleep-related phenotypes have been frequently reported in early on-set epileptic encephalopathies and in developmental delay conditions, yet the convergent pathogenetic mechanisms between these comorbidities are largely unknown. Sleep disorders remain poorly characterized in children with rare genetic syndromes, with most sleep reports on these cohorts being provided by subjective evaluations retrieved from caregivers. Despite the strong evidence demonstrating the cruciality of sleep for central nervous system maturation, the extent to which sleep-associated molecular factors are interconnected and ultimately converge on neuronal pathways is a major biological question the in the field. In this symposium, we will characterize shared molecular factors underlying the pathogenesis of sleep traits and neurodevelopmental disorders. We will describe genetic and functional associations between sleep and early onset neurological outcomes, with particular insights into the links connecting sleep physiology and neurogenetics. We will highlight how brain developmental stage informs sleep neurobiology though molecular and metabolic mechanism. Our symposium will also address how the sleep quality of caregivers is impacted by sleep disorders in individuals with rare genetic syndromes. The studies we will present offer expanded opportunity to better understand sleep and neurodevelopmental molecular connections that contribute to the pathogenesis of these clinical conditions. This work is necessary for increasing our ability to leverage Precision Medicine strategies that consider the specific profile of each neurodevelopmental condition to propose advanced effective therapies, impacting the quality health care for patients and their entire family.