A quarterly publication of the Autism Research Institute

The Autism Research Review International is quarterly publication of the Autism Research Institute

Fall, 2022 | Number 4, Volume 36

Differences detected in ASD in gene variations linked to insomnia, circadian rhythm

Children with autism spectrum disorders (ASD) may have an increased genetic risk for sleep problems, according to a new study. 

Rackeb Tesfaye and colleagues analyzed data from two large databases including 5,860 children with ASD and 2,092 unaffected siblings. In addition, they analyzed data on 7,509 individuals from the general population. 

The researchers focused on copy number variants (CNVs)—which are deletions or duplications of large sections of DNA— that are associated with circadian rhythm and insomnia. They report, “Deletions and duplications with circadian genes were overrepresented in ASD probands compared to siblings and unselected controls.” For insomnia-risk genes, deletions but not duplications were associated with ASD. These results remained significant after the researchers adjusted for cognitive ability. 

Interestingly, the researchers determined from parent reports that circadian genes did not appear to influence sleep problems in the children with ASD. They speculate that the databases they used may have lacked the detailed information needed to identify the full range of sleep problems frequently seen in these children. Another possibility, they say, is that circadian and insomnia genes contribute to ASD in ways that do not involve sleep—for instance, by affecting cognition or hormone secretion.


“Investigating the contributions of circadian pathway and insomnia risk genes to autism and sleep disturbances,” Rackeb Tesfaye, Guillaume Huguet, Zoe Schmilovich, Thomas Renne, Mor Absa Loum, Elise Douard, Zohra Saci, Martineau Jean-Louis, Jean Luc Martineau, Rob Whelan, Sylvane Desrivieres, Andreas Heinz, Gunter Schumann, Caroline Hayward, Mayada Elsabbagh, and Sebastien Jacquemont, Translational Psychiatry, October 3, 2022 (free online). Address: Rackeb Tesfaye, McGill University, Neurology and Neurosurgery, Montreal Neurological Institute, Azrieli Center for Autism Research, Montreal, Canada, [email protected].