People who suffer from a sleep disorder are not themselves while they are asleep or dreaming. “For instance, they will be aggressive or dangerous. Anyone sharing their bed may end up with a busted lip or a black eye. And they are also prone to hurting themselves, for instance when they fall out of bed,” says Birgit Högl, a neurologist and head of the Sleep Disorders Unit at the Medical University of Innsbruck. These nocturnal outbursts are usually caused by a condition called Isolated REM Sleep Behavior Disorder (iRBD). REM, or rapid eye movement,denotes the sleep stage during which a healthy person usually does not move at all. Högl estimates that one in 100 people suffers from iRBD, which affects men and women equally and is more frequently diagnosed in older people. That being said, exact numbers are hard to come by as those afflicted are often not aware of their condition, and patients who present with the corresponding symptoms usually need to wait for a long time to be examined.
Against this backdrop, Högl’s research group has developed a unique tool. In collaboration with Heinrich Garn and Bernhard Kohn of the Austrian Institute of Technology (AIT), Högl and her team equipped a high-tech camera with artificial intelligence capabilities to detect iRBD-specific movements. “The method has turned out to be so exact that it is fit for use in the hospital,” says Matteo Cesari, a bioengineer and the lead author of a current study that is part of the project. The Austrian Science Fund (FWF) financed the project, which has by now turned into an EU project in which researchers are further developing the technology to make it suitable for mass screenings. iRBD presents a risk not only to the people affected and those sleeping close to them, it is also the most sensitive and specific marker for dying nerve cells. To slow down this neurodegenerative process, it is key to diagnose it as early as possible.
Muscle paralysis during REM sleep
A sleep disorder is easy to detect when the person concerned has trouble sleeping. For disorders such as iRBD, a diagnosis is much more difficult to come by. If a person suffers from iRBD, their muscles are not paralyzed during the REM stage the way they are in healthy people. “The legs and arms of iRBD patients tend to twitch rapidly. They also move in a way that looks like they are acting out their dreams lying down,” Högl describes the symptoms.
The sleep expert thinks that it is due to social reasons that iRBD is more often diagnosed in men: while many women are single and sleep alone at later stages of their life, older men share their bed more often, so that the disorder is more easily found. In general, however, it often goes undetected. “Some people don’t even know that it is not normal to actually carry out all the movements you are dreaming about in your sleep,” Högl says.
iRBD as a sure sign of neurodegeneration
A person older than 50 who suddenly starts to move or behave strangely (with or without dreams) during their sleep is well advised to consult a sleep lab. For one thing, physicians can prescribe medication that can ease the symptoms of iRBD. For another, the disorder is a clear indication of the loss of nerve cells and is thus often associated with other diseases. “Ninety percent of all patients with iRBD develop a neurodegenerative disease such as Parkinson’s, Lewy body dementia or multiple system atrophy (MSA),” Högl says. Often, this happens over the course of several years.
This is why iRBD patients are an ideal target group for newly developed drugs that can help slow down the degenerative process. At the moment, a lot of research is carried out in this field, among others by Ambra Stefani and her colleagues from Högl’s unit. They know that if patients suffer from one of the above-mentioned diseases, many of their nerve cells have already died. “An iRBD diagnosis can give us a ten-year head start. But the sleep lab is currently the needle’s ear,” the neurologist points to the weak link in the system.
Long wait times to be diagnosed
For the moment, sleep disorders can only be reliably diagnosed in sleep labs. In a polysomnography, various signals are monitored in a sleeping person, among other things brain activity (EEG), eye movements, breathing patterns, noise, muscle tone and body posture. The data are collected and manually assigned to the various sleep stages. As this requires a lot of staff and time, patients have to wait for a year or longer to get an appointment in a sleep lab in Austria. Högl’s research group has addressed this shortcoming by creating an automated solution for diagnosing iRBD. Their goal was to come up with a tool that could also be used to screen healthy people in order to detect the risk of developing a neurodegenerative disease early on.
About the researchers
Birgit Högl has headed the Medical University of Innsbruck’s sleep lab for 24 years. She specializes in sleep disorders and was appointed Professor for Neurology with a focus on Sleep Medicine in 2019.
Matteo Cesari studied Bioengineering in Italy and Denmark. He joined Birgit Högl’s research group as a post-doctoral researcher four years ago.