Project description
A deeper understanding of circadian rhythms in autism spectrum disorders through genetics
Sleep disorders are common in children with autism spectrum disorders (ASD). The biggest problems include difficulty falling asleep and reduced sleeping time. The EU-funded FamilySleeps project will explore the genetic basis of sleep and circadian rhythms in ASD. This project will involve a one year longitudinal study of circadian rhythms and sleep disturbances, along with genetic analysis, in families with ASD.
Objective
Sleep disturbances are highly prevalent in children with neurodevelopmental disorders, and this adversely impacts the whole family’s wellbeing. While the origins of neurodevelopmental disorders are considered largely genetic, the mechanisms that underlie sleep disruption, and their relationship to neurodevelopment, is relatively unexplored. Chronotype is our daily preference for morning or evening time, and a recent large-scale genome-wide association study highlighted its significant relationship with the most common neurodevelopmental disorder, autism spectrum disorder (ASD). Chronotype is an indication of our circadian rhythms, which alongside environmental factors, influences sleep disturbance. However, challenges in obtaining objective circadian rhythm and sleep timing measurements in ASD mean we are uncertain about their role.
The FamilySleeps research programme will challenge the view that sleep disruption in children with ASD is driven only by environmental and behavioural factors. I will address two hypotheses;
1) that a disruption to circadian rhythms is an endophenotype of ASD
2) that a disruption to circadian rhythms has an independent common genetic component.
To test these hypotheses, FamilySleeps will ask if children with ASD show sleep and circadian rhythm disturbances compared to typically developing children; if unaffected siblings have disturbed sleep and circadian rhythm patterns; and if sleep and circadian rhythm disruption correlates with a genetic risk for ASD.
I will apply technologically-advanced and non-invasive sensors to obtain a one-year longitudinal objective measure of sleep disturbances and circadian rhythms in 60 families. I will generate genomic risk scores to establish the genetic risk of ASD. FamilySleeps will lead a breakthrough in understanding the role of circadian rhythms in ASD, which has implications for breakthroughs in other neurodevelopmental disorders, and understanding a process fundamental to life – sleep.
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Funding Scheme
ERC-STG - Starting GrantHost institution
W23 Maynooth
Ireland