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Study explores genetic risk profiling of insomnia in autism

Nov. 7, 2019, 10:41 AM


by Kelsey Herbers

Researchers from the Vanderbilt Genetics Institute and the Vanderbilt Kennedy Center are partnering to examine how genes affect sleep and circadian disturbances in autism spectrum disorder (ASD) with a goal of creating a genetic risk profile of insomnia in ASD.

The study, funded by autism advocacy organization Autism Speaks, is the first large-scale effort of its kind and seeks to better understand the potential involvement of circadian and clock-related genetic pathways to risk of insomnia in ASD to help inform better treatments.

Vanderbilt researchers Beth Malow, MD, MS, left, Maria Niarchou, PhD, and Lea Davis, PhD, hope to create a genetic risk profile of insomnia in autism spectrum disorder to better inform treatments.
Vanderbilt researchers Beth Malow, MD, MS, left, Maria Niarchou, PhD, and Lea Davis, PhD, hope to create a genetic risk profile of insomnia in autism spectrum disorder to better inform treatments. (photo by John Russell)

“We know that sleep is an essential part of health, and that when we get a good night’s sleep, it makes an enormous difference in how we feel and interact with others. So, using precision medicine to improve sleep for individuals on the autism spectrum has high potential to improve their daytime functioning and quality of life, along with that of their families,” said Beth Malow, MD, MS, Burry Professor of Cognitive Childhood Development and an investigator at the Vanderbilt Kennedy Center.

The research team, consisting of Malow, Maria Niarchou, PhD, and Lea Davis, PhD, will combine phenotypic and genotypic data from roughly 800 people with ASD from two datasets and cross analyze with the Vanderbilt University biobank (BioVU) to first determine if the genetic architecture of sleep is similar between individuals with ASD and those who are typically developed.

The team will then explore whether melatonin or other specific genes or pathways are associated with insomnia in ASD.

According to Niarchou, sleep disorders are common in ASD, with two-thirds of individuals with autism reporting at least one sleep problem compared to 10-16% of typically developed individuals.

“The most common problem is insomnia, meaning an individual may have difficulty falling asleep, maintaining sleep or have a short sleep duration. Many of those sleep problems have been associated with attention problems, hyperactivity, aggression and difficulty dealing with life in general. There’s research showing that if these sleep problems happen during development, they can have lasting consequences, affecting attention, memory, mood regulation and learning,” said Niarchou, Sir Henry Wellcome Postdoctoral Research Fellow in the Vanderbilt Genetics Institute.

“It’s not like we’ll necessarily solve these problems by improving sleep, but we also know that when you sleep better, your health and quality of life are better.”

While sleep problems are common, they’re understudied, and many individuals don’t benefit from existing treatments.

There are currently no indicators to predict whether a child may develop a sleep disorder, and researchers don’t know who benefits from treatment or why some individuals do not.

VUMC researchers hope the results of this one-year study can help pave the way for precision medicine to treat sleep disorders in ASD, especially for those who aren’t benefiting from current treatments.

“Personally, I’m excited about this research because we know very little about the biological contribution to sleep disturbance in autism,” said Davis, assistant professor in the Division of Genetic Medicine.

“My stepson, who is now 25 and is autistic, has always struggled with sleep issues. When he was little, he would sleep only five or six hours a night, and it was difficult for the whole family.

“I think this research has the potential to help us better understand sleep disturbance in autism so that we may treat it more effectively in the future.”

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