Colin Snow
Sleep-wake balance is a term used to describe the transitions between sleep and wake states, which are influenced by multiple brain structures. Sleep-wake homeostasis keeps track of an individual's need for sleep, with the homeostatic sleep drive reminding the body to sleep after a certain time and regulating sleep intensity. Sleep-wake balance is particularly important in people with Prader-Willi syndrome (PWS), who often experience sleep issues such as sleep apnea, which affects as many as 70% of people with PWS. Researchers are working to identify the underlying neurobiology behind these sleep issues, with a view to developing new therapies to regulate sleep and metabolism in PWS.
| Characteristics | Values |
|---|---|
| Sleep issues in PWS | Caused by underlying neurobiology |
| Reduced function of neurons in the hypothalamus region of the brain | |
| Missing genes in the PWS region of chromosome 15 | |
| Lack of 116HG in PWS cells | |
| Sleep apnea | Affects 70% of all participants in the Global PWS Registry |
| 50% of those prescribed CPAP use it less than prescribed, or not at all | |
| Obstructive sleep apnea affects an estimated 18 million adults in the United States | |
| 57% of PWS patients had some form of sleep-disordered breathing | |
| Central sleep apnea is found in 43% of infants with PWS |
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What You'll Learn
- Sleep apnea is a major concern for people with Prader-Willi syndrome
- Sleep disordered breathing affects 57% of PWS patients
- Central sleep apnea is more common in infants with PWS
- Obstructive sleep apnea is more common in older children with PWS
- Dr. Janine LaSalle's research links missing genes in the PWS region of chromosome 15 to genes that control circadian rhythms
Sleep apnea is a major concern for people with Prader-Willi syndrome
Sleep apnea affects as many as 70% of participants in the Global PWS Registry, making it difficult for people with PWS to sleep through the night due to disrupted breathing. This condition is associated with other serious health problems, including memory issues, high blood pressure, stroke, heart failure, and diabetes. Sleep apnea occurs when breathing repeatedly stops and starts during sleep, leading to low blood oxygen levels. There are two types: obstructive sleep apnea (OSA), where tissue physically blocks airflow; and central sleep apnea, which is less common in older children and adults with PWS but more frequent in infants.
The high rate of OSA in people with PWS is attributed to muscle hypotonia, obesity, craniofacial anomalies, and hypothalamic dysfunction. Upper airway surgery alone is often insufficient to resolve OSA in PWS patients, and the effectiveness of surgical interventions remains uncertain. Continuous positive airway pressure (CPAP) is the current standard therapy for OSA, but many patients find it uncomfortable or do not use it as prescribed. However, a clinical trial at the University of Pennsylvania tested an implanted device that stimulates the nerve controlling tongue movement during breathing pauses, showing promising results for reducing breathing pauses and increasing blood oxygen levels.
Central sleep apnea in infants with PWS can be improved with supplemental oxygen during sleep, but the long-term impacts on cognitive development are not yet fully understood. Early diagnosis and treatment of OSA are crucial to prevent cardiovascular and respiratory complications and detrimental effects on sleep quality, development, and daytime behaviours. Research is ongoing to better understand the neurobiology of sleep issues in PWS and identify potential targets for intervention.
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Sleep disordered breathing affects 57% of PWS patients
Sleep-disordered breathing (SDB) is a large category of conditions that includes hypoventilation (breathing that is too shallow or slow to be effective) and sleep apnea. Sleep apnea occurs when breathing repeatedly stops and starts during sleep, leading to low blood oxygen levels. Sleep apnea is a major concern for people with Prader-Willi syndrome (PWS), affecting as many as 70% of all participants in the Global PWS Registry.
Among the 44 patients (aged 0-18 years) at the Hospital for Sick Children in Toronto, approximately 57% of PWS patients had some form of sleep disordered breathing before starting growth hormone therapy. Specifically, 25/44 (57%) patients were diagnosed with sleep apnea on a PSG. Of these, 11 had central sleep apnea (CSA), 11 had obstructive sleep apnea (OSA), and 3 had both. Central sleep apnea was found in 43% of infants and 5% of older children (>2 years). The high incidence of central sleep apnea in infants was unexpected, as obesity is a major cause of obstructive sleep apnea, and older children had a significantly higher incidence of obesity than infants.
The current standard therapy for obstructive sleep apnea is continuous positive airway pressure (CPAP). However, many patients don't respond to CPAP, and others don't use it as prescribed due to discomfort. The Global PWS Registry shows that 50% of those prescribed CPAP use it less than prescribed or not at all. Recent research from the University of Pennsylvania has explored a new therapy for the treatment of obstructive sleep apnea. In a clinical trial with 20 patients, researchers tested a device that stimulates the nerve that controls tongue movement when there is a pause in breathing. The device is implanted in the chest and can be turned on and off by the patient when going to sleep and waking up. The results showed an 84% reduction in breathing pauses and an 11% increase in blood oxygen levels, suggesting that hypoglossal nerve stimulation (HGNS) may be an alternative for those who can't tolerate CPAP.
The underlying neurobiology behind sleep issues in PWS is still being investigated. Research at Harvard Medical School is exploring how reduced function of neurons in the hypothalamus region of the brain may contribute to daytime sleepiness in PWS. By using animal models of PWS and an advanced technique called photoactivation, researchers are able to target and activate specific subsets of neurons to understand their impact on sleep and wakefulness in mice. This work will improve our understanding of how hypothalamic dysfunction impairs sleep cycles in PWS and identify potential targets for intervention.
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Central sleep apnea is more common in infants with PWS
Sleep apnea is a major concern for people with Prader-Willi syndrome (PWS), affecting around 70% of all participants in the Global PWS Registry. Sleep apnea is a potentially serious disorder in which breathing repeatedly stops and starts during sleep, leading to low blood oxygen levels. There are two types of sleep apnea: obstructive sleep apnea (OSA) and central sleep apnea (CSA). OSA is caused by a physical blockage of airflow, often due to obesity, large adenoids or tonsils, or the collapse of soft tissue around the airway. CSA, on the other hand, is caused by impaired communication between the brain and the muscles that control breathing.
The Chinese study found that CSA was more prevalent in infants with PWS under the age of 2, and overall, CSA was found in 23 infants compared to 4 older children. This difference in prevalence between infants and older children may be due to the higher incidence of obesity in older children, which is a major cause of OSA. Higher levels of insulin-like growth factor 1 (IGF-1) and thyroid-related parameters were also found in older children compared to infants.
Due to the high prevalence of sleep apnea in children with PWS, it is strongly recommended that parents of infants with PWS enroll them in a sleep study. Sleep studies provide valuable data that can help improve the health of children with PWS and establish baselines for comparing new treatments. Early detection and appropriate treatment of sleep apnea may have positive effects on brain development in infants with PWS.
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Obstructive sleep apnea is more common in older children with PWS
Sleep-related breathing disorders (SRBDs) are a critical health concern for children with Prader-Willi syndrome (PWS). Obesity is a unifying risk factor for sleep apnea in children with PWS, and it is more prevalent in older children with the syndrome. Obstructive sleep apnea (OSA) occurs when tissue physically blocks airflow, and it is the predominant sleep disorder among children with PWS.
A Chinese study published in 2020 found that sleep apnea is common in infants and children with PWS. The study analysed data from 48 children with a median age of 16.8 months (ranging from 3 months to 15.7 years) with a genetically confirmed PWS diagnosis. The children were divided into two groups: infants (aged 2 or younger) and children over 2 years old. The older group had significantly higher levels of insulin-like growth factor 1 (IGF-1) in their blood than the infants.
A retrospective cohort study of 267 children, 58 of whom met the inclusion criteria, found that 72.7% of children with PWS had OSA. This is a remarkably high prevalence, though it should be noted that the study only included children who were obese and had genetically confirmed PWS. The study also found that central sleep apnea (CSA) events were more common in children with PWS than in non-PWS obese children.
Another study collected data from 44 patients (aged 0-18 years) at the Hospital for Sick Children in Toronto. It found that approximately 57% of PWS patients had some form of sleep-disordered breathing (SDB) before starting growth hormone therapy. Central sleep apnea was more common in infants (43% of infants), while older children (over 2 years) were more likely to suffer from OSA. The higher incidence of OSA in older children is likely due to their significantly higher incidence of obesity compared to infants, as obesity is a major cause of OSA.
The current standard therapy for OSA is continuous positive airway pressure (CPAP). However, many patients do not respond well to CPAP, and it can be uncomfortable. As a result, some patients do not use it as prescribed. Researchers at the University of Pennsylvania are exploring a new therapy for the treatment of OSA. In a clinical trial with 20 patients, they tested a device that stimulates the nerve that controls tongue movement when there is a pause in breathing. The device is implanted in the chest and can be turned on and off by the patient. The results showed an 84% reduction in breathing pauses and an 11% increase in blood oxygen levels, suggesting that hypoglossal nerve stimulation (HGNS) may be a viable alternative for those who cannot tolerate CPAP.
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Dr. Janine LaSalle's research links missing genes in the PWS region of chromosome 15 to genes that control circadian rhythms
Dr. Janine LaSalle has been researching the link between missing genes in the PWS region of chromosome 15 and genes that control circadian rhythms. Her work has focused on abnormal sleep patterns in PWS, Prader-Willi syndrome, and her findings open the way for new therapies to regulate sleep and metabolism in those with the syndrome.
LaSalle's research has specifically looked at the PWS/Angelman region of chromosome 15 and the effect of the chemotherapy drug topotecan on the expression of the UBE3A gene, which is often deleted or silenced in Angelman Syndrome. In this study, she highlighted the importance of R-loops in the regulation of UBE3A's expression.
In another study, LaSalle and her team discovered a link between the PWS-related gene "116HG" (part of the SNORD116 gene) and circadian rhythms in a mouse model of PWS. They found that the 116HG gene regulates the expression of other genes that control circadian rhythms and metabolism. The lack of 116HG in PWS cells leads to a disruption of metabolic processes related to the sleep cycle, which may explain the sleep problems experienced by those with PWS.
LaSalle's research has also considered the broader implications of her findings, such as the potential link between the regulation of appetite and circadian rhythms. She is currently testing the hypothesis that the drug rapamycin may work to regulate the circadian-rhythm genes in the absence of 116HG. This is an exciting prospect as it could lead to the repurposing of existing drugs to treat PWS.
LaSalle's work adds to our understanding of the genetic regulation of sleep through the circadian system and the impact of dysregulated gene expression on metabolic function. It also contributes to the growing body of research on the role of circadian clocks in controlling various physiological systems, including the cardiovascular and nervous systems, gut microbiota, and more.
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Frequently asked questions
PWS stands for Prader-Willi syndrome.
Sleep-wake homeostasis keeps track of your need for sleep. Homeostasis refers to a balance between systems in the body. The homeostatic sleep drive reminds the body to sleep after a certain time and regulates sleep intensity.
Sleep apnea is a major concern for people with Prader-Willi syndrome, affecting as many as 70% of all participants in the Global PWS Registry. Dr. Janine LaSalle has also found that the lack of 116HG in PWS cells leads to a disruption of metabolic processes related to the sleep cycle, which may explain the sleep problems experienced by individuals with PWS.
