Grant Supports Australian Project Investigating Causes of Sleep Disturbance

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by Patricia Inácio, PhD |

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A new research project in Australia is investigating what underlies sleep-disordered breathing — an umbrella term for abnormal breathing patterns during sleep — often seen in children and adults with Prader-Willi syndrome (PWS).

The goal, according to the researchers, is to better understand “breathing control stability” in children with PWS so as to develop new treatments for the condition, in which oxygen levels in the blood can drop.

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The project received funding from the Prader-Willi Research Foundation of Australia (PWRFA), through its Finding 15 Campaign.

“We’re excited about this study because it will provide the basis for developing better treatments for SDB [sleep-disordered breathing] and provide a critical bridge linking paediatric research to advances in adult SDB,” Gillian Nixon, MD, a professor at Monash University, in Australia, said in a university press release.

Nixon, head of pediatric sleep research at Melbourne Children’s Sleep Centre, at Monash Children’s Hospitals, will lead the study.

“By understanding the stability of breathing control (or lack-thereof) we will learn more about [sleep-disordered breathing] in PWS, and what to do about it,” she said.

The project is counting on input from a network of Australian PWS experts, according to Nixon.

“Importantly, this study draws on the expertise of an extensive network of PWS clinicians from across Australia, led by [Associate Professor] Jenny Downs and [Professor] Cathy Choong from the Telethon Kids Institute,” she said.

PWS is a rare genetic disorder caused by the absence or loss of function of paternal genes located in a region of chromosome 15, called the “PWS locus.” This region contains genes important for the control of sleep, metabolism, appetite, and social behavior.

Sleep disturbances are common among PWS patients and include sleep apnea — repeat and extended pauses in breathing during sleep — which can cause oxygen levels in the blood to drop, and impairments in the normal sleep cycle.

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Problems during sleep are known to influence learning, long-term health, and quality of life, researchers note. Importantly, sleep issues still can be experienced by children with PWS who undergo treatment with growth hormone, a widely used therapeutic approach to boost growth, body composition, and muscle strength.

According to Monash, growth hormone treatments “may further exacerbate the risk of developing SDB.”

The amount of the PWRFA funding was not disclosed. In 2020, the foundation awarded an AU$25,000 grant (about $18,000) to another Monash professor working to identify chemicals that activate one of the two major, silenced, PWS gene clusters.

“As a result of your generous donations to the #finding15 campaign in May of this year, we’ve been able to fund a second research project from the PWRFA 2020 Grant Round,” the organization said on its website.

Finding 15 currently is taking donations to find treatments for PWS. With the help of a scientific advisory council, the campaign seeks to translate findings from laboratories into meaningful outcomes for families. Donations will be matched; more information is available here.