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Symptoms Of Sleep Apnea

Sleep apnea is a condition that causes you to stop breathing while you sleep. Your breathing usually stops for more than 10 seconds and then restarts. This cycle can happen multiple times throughout the night.

An estimated 24 million people in the United States have undiagnosed sleep apnea. While there are different sleep apnea types, obstructive sleep apnea is the most common. Obstructive sleep apnea (OSA) causes the tissues in your mouth and throat to narrow or close your airways. As a result, your breathing momentarily stops, which can put a strain on your heart and ultimately affect your daily life.

One challenge sleep apnea poses is that you experience the symptoms while you are sleeping—meaning they might not be noticeable to others and you may also be unaware of your symptoms. If you or a loved one suspects that you might be experiencing a sleep disorder, it's important to know the signs of sleep apnea. 

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One of the most common sleep apnea symptoms is snoring. Snoring can signal that your airways are becoming narrow and keeping air from moving throughout your body while you sleep. Having extra or bulky tissue in the back of the throat or a larger tongue can make snoring more likely.   Some people may make other sounds while sleeping, such as gasping, choking, and snorting. The gasping can occur when you're trying to breathe against a closed airway, which your brain interprets as a sign to take deeper breaths. As a result, you might also wake up multiple times a night.  Keep in mind that not all snoring means you have sleep apnea. People who receive a sleep apnea diagnosis generally make snoring sounds, which accompany a pause in breathing, choking, or gasping for air. Sleep apnea can affect your ability to sleep well at night. As a result, it's common to wake up feeling tired. About 15% to 50% of people with sleep apnea experience extreme fatigue during the day.  You can experience excessive daytime sleepiness even if you slept seven to nine hours by the clock at night. While asleep, you don't always consciously know what symptoms you're experiencing. Still, our body might feel the effects of interrupted sleep the next day.  Excessive daytime sleepiness can be a cause for concern because it can make you feel sleepy while performing important tasks, such as driving, operating machinery at work, or cooking with sharp objects.   Fatigue is the feeling of having very little energy, which can also make you feel unmotivated or irritable. As a result, you may need to take daytime naps to regain energy. However, if you experience severe or chronic sleep apnea, even daytime naps may not reduce fatigue. The inability to get good quality sleep when you have sleep apnea can lead to problems with concentration and memory during the day. You might notice that you're unable to focus on your work or easily forget tasks or deadlines.  Memory and concentration problems can also make it difficult to carry on a conversation without getting distracted or lead to issues with procrastination. Experiencing headaches first thing in the morning after waking up can also be a sleep apnea symptom. While healthcare providers aren't sure exactly why those with sleep apnea have headaches, one theory is that a drop in your oxygen levels throughout the night can trigger pain sensations in your head and other parts of the body. Currently, researchers have not developed criteria for sleep apnea-related headaches that compare to other types of headaches (e.G., migraine, tension, or cluster headaches).  Nocturia is a symptom that causes you to wake up at least two times or more every night to go to the bathroom. Research suggests that nearly 50% of all people with sleep apnea experience nocturia.   Healthcare providers do not know exactly why those with sleep apnea commonly experience nocturia. One theory is that hypoxemia, or low levels of oxygen, can put stress on your bladder, causing it to become overactive.  Some research also theorizes that snoring and low blood oxygen levels that occur due to sleep apnea creates changes in around the heart. This may cause the body to release a hormone called atrial natriuretic peptide—a hormone that stimulates urine production or gives you the urge to pee. Research suggests that 2% to 4% of children also experience sleep apnea—and their symptoms aren't always similar to adults. Some of the most common sleep apnea symptoms in children include: Gasping while sleeping  Hyperactivity during the daytime Restless sleep Snoring Waking up at night frequently Children with certain medical conditions may be at greater risk for sleep apnea. Children with craniofacial abnormalities, which affect a child's head or facial structure, genetic disorders, or neurological conditions may have a higher risk of developing sleep apnea.  If your child has one or more of these conditions, you may want to talk to their healthcare provider to learn about their risk of sleep apnea.  You should see your healthcare provider anytime you experience daytime sleepiness or have been told that you snore or gasp during rest—especially if you seem to be getting enough hours of sleep each night.  However, there are plenty of people with sleep apnea who don't snore or report sleepiness as a symptom. If you have any of the following symptoms, you should still talk to your provider about a potential case of sleep apnea: Dry mouth when you wake up  Having headaches in the morning Choking or gasping when you sleep Waking up frequently at night to urinate Your healthcare provider can get you started on testing measures that help determine if you have sleep apnea and explain treatment options, if necessary. In about 80% of people with sleep apnea, a healthcare provider can diagnose sleep apnea using at-home sleep apnea testing by testing your breathing and quality of sleep at night. Sleep apnea can be a serious condition that affects your quality of life and health. A condition that often goes undiagnosed, sleep apnea occurs when your breathing stops and restarts several times at night.  The classic symptoms of sleep apnea include snoring, daytime sleepiness and fatigue, problems with your memory and concentration, headaches, and waking up at night to urinate. If you wake up from your sleep feeling fatigued and unrefreshed, talk to your healthcare provider about your symptoms. They can help get you tested for the condition and start treatment, if necessary.  

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Using AI To Improve Diagnosis Of Rare Genetic Disorders

Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to make the process more efficient using artificial intelligence. The team developed a machine learning system called AI-MARRVEL (AIM) to help prioritize potentially causative variants for Mendelian disorders. The study is published today in NEJM AI.

Researchers from the Baylor Genetics clinical diagnostic laboratory noted that AIM's module can contribute to predictions independent of clinical knowledge of the gene of interest, helping to advance the discovery of novel disease mechanisms. "The diagnostic rate for rare genetic disorders is only about 30%, and on average, it is six years from the time of symptom onset to diagnosis. There is an urgent need for new approaches to enhance the speed and accuracy of diagnosis," said co-corresponding author Dr. Pengfei Liu, associate professor of molecular and human genetics and associate clinical director at Baylor Genetics.

AIM is trained using a public database of known variants and genetic analysis called Model organism Aggregated Resources for Rare Variant ExpLoration (MARRVEL) previously developed by the Baylor team. The MARRVEL database includes more than 3.5 million variants from thousands of diagnosed cases. Researchers provide AIM with patients' exome sequence data and symptoms, and AIM provides a ranking of the most likely gene candidates causing the rare disease.

Researchers compared AIM's results to other algorithms used in recent benchmark papers. They tested the models using three data cohorts with established diagnoses from Baylor Genetics, the National Institutes of Health-funded Undiagnosed Diseases Network (UDN) and the Deciphering Developmental Disorders (DDD) project. AIM consistently ranked diagnosed genes as the No. 1 candidate in twice as many cases than all other benchmark methods using these real-world data sets.

"We trained AIM to mimic the way humans make decisions, and the machine can do it much faster, more efficiently and at a lower cost. This method has effectively doubled the rate of accurate diagnosis," said co-corresponding author Dr. Zhandong Liu, associate professor of pediatrics – neurology at Baylor and investigator at the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children's Hospital.

AIM also offers new hope for rare disease cases that have remained unsolved for years. Hundreds of novel disease-causing variants that may be key to solving these cold cases are reported every year; however, determining which cases warrant reanalysis is challenging because of the high volume of cases. The researchers tested AIM's clinical exome reanalysis on a dataset of UDN and DDD cases and found that it was able to correctly identify 57% of diagnosable cases.

"We can make the reanalysis process much more efficient by using AIM to identify a high-confidence set of potentially solvable cases and pushing those cases for manual review," Zhandong Liu said. "We anticipate that this tool can recover an unprecedented number of cases that were not previously thought to be diagnosable."

Researchers also tested AIM's potential for discovery of novel gene candidates that have not been linked to a disease. AIM correctly predicted two newly reported disease genes as top candidates in two UDN cases.

"AIM is a major step forward in using AI to diagnose rare diseases. It narrows the differential genetic diagnoses down to a few genes and has the potential to guide the discovery of previously unknown disorders," said co-corresponding author Dr. Hugo Bellen, Distinguished Service Professor in molecular and human genetics at Baylor and chair in neurogenetics at the Duncan NRI.

"When combined with the deep expertise of our certified clinical lab directors, highly curated datasets and scalable automated technology, we are seeing the impact of augmented intelligence to provide comprehensive genetic insights at scale, even for the most vulnerable patient populations and complex conditions," said senior author Dr. Fan Xia, associate professor of molecular and human genetics at Baylor and vice president of clinical genomics at Baylor Genetics. "By applying real-world training data from a Baylor Genetics cohort without any inclusion criteria, AIM has shown superior accuracy. Baylor Genetics is aiming to develop the next generation of diagnostic intelligence and bring this to clinical practice."

Other authors of this work include Dongxue Mao, Chaozhong Liu, Linhua Wang, Rami AI-Ouran, Cole Deisseroth, Sasidhar Pasupuleti, Seon Young Kim, Lucian Li, Jill A.Rosenfeld, Linyan Meng, Lindsay C. Burrage, Michael Wangler, Shinya Yamamoto, Michael Santana, Victor Perez, Priyank Shukla, Christine Eng, Brendan Lee and Bo Yuan. They are affiliated with one or more of the following institutions: Baylor College of Medicine, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Al Hussein Technical University, Baylor Genetics and the Human Genome Sequencing Center at Baylor.

This work was supported by the Chan Zuckerberg Initiative and the National Institute of Neurological Disorders and Stroke (3U2CNS132415). Read the full publication here.

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