Genetic Studies of Sleep in Children

Sleep is critical for optimal development in childhood. There are multiple sleep health traits that have been shown to have a degree of heritability, indicating that genetic factors do contribute to sleep health traits, such as sleep duration, in childhood. However, the specific genes that regulate sleep health in childhood are largely unknown. In the future, it is likely that larger-scale studies with standardized sleep health phenotyping will facilitate the discovery novel pediatric sleep health loci through genome-wide association studies, and candidate gene studies will additionally contribute to our understanding of how specific genes impact sleep in childhood, especially at key developmental stages. In regard to clinical sleep disorders, specific genetic mutations are known to contribute to the risk of specific sleep disorders. For example, genetic variants are known to increase the risk of sleep-disordered breathing, and obstructive sleep apnea is common among children with Trisomy 21. Mutations in genes comprising the molecular clock have been observed in families with circadian rhythm sleep-wake disorders; for example, mutations in CRY1 and PER3 that extend the molecular clock period have been detected in families with advanced sleep-phased syndrome. Current and future findings on the genetics of sleep in childhood will help identify those most at risk for problematic sleep and guide prevention and treatment strategies to improve sleep and therefore health and development in early life.