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Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
          Funded by The Federal Ministry for Economic Affairs and Energy; Grant: 01MD19013D, Smart-MD Project, Digital Technologies
           
        
DSPD is genetically linked to attention deficit hyperactivity disorder by findings of polymorphism in genes in common between those apparently involved in ADHD and those involved in the circadian rhythm and a high proportion of DSPD among those with ADHD.
Sexsomnia affects individuals of all age groups and backgrounds but present as an increased risk for individuals who possess the following:
- coexisting sleep disorders
- sleep disruption secondary to obstructive sleep apnea
- sleep related epilepsy
- certain medications
Behaviors of pelvic thrusting, sexual arousal, and orgasms are often attributed to sleep related epilepsy disorder. In some cases, physical contact with a partner in bed acted as a trigger to initiate sexsomia behaviors.
Medications, such as the commonly prescribed treatment for insomnia, Ambien, have been shown to induce symptoms commonly associated with sexsomnia.
Like sleep-related eating disorders, sexsomnia presents more commonly in adults than children. However, these individuals usually have a history of parasomnias that began during childhood.
There is some evidence that a predisposition to night terrors and other parasomnias may be congenital. Individuals frequently report that past family members have had either episodes of sleep terrors or sleepwalking. In some studies, a ten-fold increase in the prevalence of night terrors in first-degree biological relatives has been observed—however, the exact link to inheritance is not known. Familial aggregation has been found suggesting that there is an autosomal mode of inheritance. In addition, some laboratory findings suggest that sleep deprivation and having a fever can increase the likelihood of a night terror episode occurring. Other contributing factors include nocturnal asthma, gastroesophageal reflux, and central nervous system medications. Special consideration must be used when the subject suffers from narcolepsy, as there may be a link. There have been no findings that show a cultural difference between manifestations of night terrors, though it is thought that the significance and cause of night terrors differ within cultures. Evidence suggests that nightmares are more common among women than men.
Also, older children and adults provide highly detailed and descriptive images associated with their sleep terrors compared to younger children, who either cannot recall or only vaguely remember. Sleep terrors in children are also more likely to occur in males than females; in adults, the ratio between sexes is equal. A longitudinal study examined twins, both identical and fraternal, and found that a significantly higher concordance rate of night terror was found in identical twins than in fraternal.
Though the symptoms of night terrors in adolescents and adults are similar, their causes, prognoses, and treatments are qualitatively different. There is some evidence that suggests that night terrors can occur if the sufferer does not eat a proper diet, does not get the appropriate amount or quality of sleep (e.g., because of sleep apnea), or is enduring stressful events. Adults who have experienced sexual abuse are more likely to receive a diagnosis of sleep disorders, including night terrors. Overall, though, adult night terrors are much less common and often respond best to treatments that rectify causes of poor quality or quantity of sleep.
Symptoms of sexsomnia can be caused by or be associated with:
- stress factors
- sleep deprivation
- Consumption of alcohol or other drugs
- Pre-existing parasomnia behaviors
Sleep deprivation is known to have negative effects on the brain and behavior. Extended periods of sleep deprivation often results in the malfunctioning of neurons, directly effecting an individual's behavior. While muscles are able to regenerate even in the absence of sleep, neurons are incapable of this ability. Specific stages of sleep are responsible for the regeneration of neurons while others are responsible for the generation of new synaptic connections, the formation of new memories, etc.
Zolpidem, the widely known sedative Ambien, is used as common treatment for insomnia and has been seen to result in sexsomnia as an adverse effect.
Sexsomnia can also be triggered by physical contact initiated by a partner, or an individual sharing the same bed.
Persons with obsessive-compulsive disorder are also diagnosed with DSPD at a much higher rate than the general public.
There are an estimated 140,000 people with N24 – both sighted and blind – in the European Union, a total prevalence of approximately 3 per 10,000, or 0.03%. It is unknown how many individuals with this disorder do not seek medical attention, so incidence may be higher. The European portal for rare diseases, Orphanet, lists Non-24 as a rare disease by their definition: fewer than 1 affected person for every 2000 population. The US National Organization for Rare Disorders (NORD) lists Non-24 as a rare disease by its definition.
There have been many studies suggesting health risks associated with shift work. For example, a 2007 study led by the IARC (International Agency for Research on Cancer) showed that shiftwork has been associated with cancer. Other studies have reported that night workers have an increased incidence of heart disease, digestive disorders and menstrual irregularities. Because a formal diagnosis of SWSD was not typically made in these studies, it remains unclear whether the reported risks apply to the subset of shiftworkers who qualify for a diagnosis of SWSD or apply to all shiftworkers.
What is considered objective insomnia, unlike SSM, can easily be confirmed empirically through clinical testing, such as by polysomnogram. Those who experience SSM may believe that they have not slept for extended periods of time, when they in fact do sleep but without perceiving it. For example, while patients who claim little or no sleep may usually acknowledge impaired job performance and daytime drowsiness, sleep state misperceivers often do not.
Cases of objective total insomnia are extremely rare. The few that have been recorded have predominantly been ascribed to a rare incurable genetic disorder called fatal familial insomnia, which patients rarely survive for more than 26 months after the onset of illness—often much less. While rarer cases of objective total insomnia lasting for decades have been reported, such as with the American Al Herpin and the Vietnamese Thai Ngoc, they have not been studied extensively in a clinical setting.
SSM is poorly understood. As of 2008, there is little to no information regarding risk factors or prevention, though it is believed to be most prevalent among young to middle aged adults.
Distribution among the general population and by gender is unknown. About 5% of the clinical population may be affected, though that figure is subject to sampling bias.
Sleep apnea can affect people regardless of sex, race, or age. However, risk factors include:
- being male
- excessive weight
- an age above 40
- large neck size (greater than 16–17 inches)
- enlarged tonsils or tongue
- small jaw bone
- gastroesophageal reflux
- allergies
- sinus problems
- a family history of sleep apnea
- deviated septum
Alcohol, sedatives and tranquilizers may also promote sleep apnea by relaxing throat muscles. Smokers have sleep apnea at three times the rate of people who have never smoked.
Central sleep apnea is more often associated with any of the following risk factors:
- being male
- an age above 65
- having heart disorders such as atrial fibrillation or atrial septal defects such as PFO
- stroke
High blood pressure is very common in people with sleep apnea.
Night terrors typically occur in children between the ages of three and twelve years, with a peak onset in children aged three and a half years old.
An estimated 1–6% of children experience night terrors. Boys and girls of all ethnic backgrounds are affected equally. In children younger than three and a half years old, peak frequency of night terrors is at least one episode per week. Among older children, peak frequency of night terrors is one or two episodes per month. The children will most likely have no recollection of the episode the next day. Pediatric evaluation may be sought to exclude the possibility that the night terrors are caused by seizure disorders or breathing problems. Most children will outgrow sleep terrors.
The most comprehensive assessment so far has estimated RBD prevalence to be about 0.5% in individuals aged 15 to 100. It is far more common in males: most studies report that only about a tenth of sufferers are female. This may partially be due to a referral bias, as violent activity carried out by men is more likely to result in harm and injury and is more likely to be reported than injury to male bed partners by women, or it may reflect a true difference in prevalence as a result of genetic or androgenic factors. The mean age of onset is estimated to be about 60 years.
Various conditions are very similar to RBD in that sufferers exhibit excessive sleep movement and potentially violent behavior. Such disorders include sleepwalking and sleep terrors, which are associated with other stages of sleep, nocturnal seizures and obstructive sleep apnea which can induce arousals from REM sleep associated with complex behaviors. Because of the similarities between the conditions, polysomnography plays an important role in confirming RBD diagnosis.
It is now apparent that RBD appears in association with a variety of different conditions. Narcolepsy has been reported as a related disorder. Both RBD and narcolepsy involve dissociation of sleep states probably arising from a disruption of sleep control mechanisms. RBD has also been reported following cerebrovascular accident and neurinoma (tumor), indicating that damage to the brain stem area may precipitate RBD. RBD is usually chronic. However, it may be acute and sudden in onset if associated with drug treatment or withdrawal (particularly with alcohol withdrawal). 60% of RBD is idiopathic. This includes RBD that is found in association with conditions such as Parkinson's disease and dementia with Lewy bodies, where it is often seen to precede the onset of neurodegenerative disease. Monoamine oxidase inhibitors, tricyclic antidepressants, Selective serotonin reuptake inhibitors, and noradrenergic antagonists can induce or aggravate RBD symptoms and should be avoided in patients with RBD.
Somniloquy or sleep-talking is a parasomnia that refers to talking aloud while asleep. It can be quite loud, ranging from simple mumbling sounds to loud shouts and long, frequently inarticulate speeches, and can occur many times during a sleep cycle. As with sleepwalking and night terrors, sleeptalking usually occurs during delta-wave NREM sleep stages or during temporary arousals therefrom.
It can also occur during the REM sleep stage, at which time it represents what sleep therapists call a "motor breakthrough" (see sleep paralysis) of dream speech: words spoken in a dream are spoken out loud. Depending on its frequency, this may or may not be considered pathological. All motor functions are typically disabled during REM sleep thus, motoric, i.e., verbal elaboration of dream content, could be considered an REM behavior disorder (see below).
Sleep-talking can occur by itself or as a feature of another sleep disorder such as:
- Rapid eye movement behavior disorder (RBD) – loud, emotional or profane sleep talking
- Sleepwalking
- Night terrors – intense fear, screaming, shouting
- Sleep-related eating disorder (SRED)
Sleep-talking is very common and is reported in 50% of young children, with most of them outgrowing it by puberty, although in rare cases it may persist into adulthood (about 4% of adults are reported to talk in their sleep). It appears to run in families. In 1966, researchers worked to find links between heredity and somniloquy. Their research suggests the following:
- Sleep-talking parents are more likely to have children who sleep-talk
- Sleep talking can still occur, though much less commonly, when neither parent has a history of sleep talking
- A large portion of parents begin to sleep-talk later in life without any prior history of sleep-talking during childhood or adolescence
Sleep-talking by itself is typically harmless; however, it can wake others and cause them consternation—especially when misinterpreted as conscious speech by an observer. If the sleep-talking is dramatic, emotional, or profane it may be a sign of another sleep disorder (see above). Sleep-talking can be monitored by a partner or by using an audio recording device; devices which remain idle until detecting a sound wave are ideal for this purpose. Polysomnography (sleep recording) shows episodes of sleep talking that can occur in any stage of sleep.
As of 2005, there had been fewer than 100 cases of sighted people with non-24 reported in the scientific literature.
Histamine plays a role in wakefulness in the brain. An allergic reaction over produces histamine causing wakefulness and inhibiting sleep Sleep problems are common in people with allergic rhinitis. A study from the N.I.H. found that sleep is dramatically impaired by allergic symptoms and that the degree of impairment is related to the severity of those symptoms s Treatment of allergies has also been shown to help sleep apnea.
A survey of 1.1 million residents in the United States found that those that reported sleeping about 7 hours per night had the lowest rates of mortality, whereas those that slept for fewer than 6 hours or more than 8 hours had higher mortality rates. Getting 8.5 or more hours of sleep per night was associated with a 15% higher mortality rate. Severe insomnia – sleeping less than 3.5 hours in women and 4.5 hours in men – is associated with a 15% increase in mortality.
With this technique, it is difficult to distinguish lack of sleep caused by a disorder which is also a cause of premature death, versus a disorder which causes a lack of sleep, and the lack of sleep causing premature death. Most of the increase in mortality from severe insomnia was discounted after controlling for co-morbid disorders. After controlling for sleep duration and insomnia, use of sleeping pills was also found to be associated with an increased mortality rate.
The lowest mortality was seen in individuals who slept between six and a half and seven and a half hours per night. Even sleeping only 4.5 hours per night is associated with very little increase in mortality. Thus, mild to moderate insomnia for most people is associated with increased longevity and severe insomnia is associated only with a very small effect on mortality. It is unclear why sleeping longer than 7.5 hours is associated with excess mortality.
Sleep paralysis is equally experienced in both males and females. Lifetime prevalence rates derived from 35 aggregated studies indicate that approximately 8% of the general population, 28% of students, and 32% of psychiatric patients experience at least one episode of sleep paralysis at some point in their lives. Rates of recurrent sleep paralysis are not as well known, but 15%-45% of those with a lifetime history of sleep paralysis may meet diagnostic criteria for Recurrent Isolated Sleep Paralysis. In surveys from Canada, China, England, Japan and Nigeria, 20% to 60% of individuals reported having experienced sleep paralysis at least once in their lifetime. In general, non-whites appear to experience sleep paralysis at higher rates than whites, but the magnitude of the difference is rather small. Approximately 36% of the general population that experiences isolated sleep paralysis is likely to develop it between 25 and 44 years of age.
Isolated sleep paralysis is commonly seen in patients that have been diagnosed with narcolepsy. Approximately 30–50% of people that have been diagnosed with narcolepsy have experienced sleep paralysis as an auxiliary symptom. A majority of the individuals who have experienced sleep paralysis have sporadic episodes that occur once a month to once a year. Only 3% of individuals experiencing sleep paralysis that is not associated with a neuromuscular disorder have nightly episodes.
Sleep paralysis could lead the individual to acquire conditioned fear of the experience ("worry attacks"), resulting in more nighttime awakening and fragmented sleep (because of nocturnal arousal and hyper-alertness to symptoms of paralysis), making the person more likely to have sleep paralysis in the future.
One of these disorders is extrinsic (from Latin "extrinsecus", from without, on the outside) or circumstantial:
- Shift work sleep disorder, which affects people who work nights or rotating shifts.
Formerly, jet lag, too, was classified as an extrinsic type circadian rhythm disorder.
Several circumstances have been identified that are associated with an increased risk of sleep paralysis. These include insomnia, sleep deprivation, an erratic sleep schedule, stress, and physical fatigue. It is also believed that there may be a genetic component in the development of RISP, because there is a high concurrent incidence of sleep paralysis in monozygotic twins. Sleeping in the supine position has been found an especially prominent instigator of sleep paralysis.
Sleeping in the supine position is believed to make the sleeper more vulnerable to episodes of sleep paralysis because in this sleeping position it is possible for the soft palate to collapse and obstruct the airway. This is a possibility regardless of whether the individual has been diagnosed with sleep apnea or not. There may also be a greater rate of microarousals while sleeping in the supine position because there is a greater amount of pressure being exerted on the lungs by gravity.
While many factors can increase risk for ISP or RISP, they can be avoided with minor lifestyle changes. By maintaining a regular sleep schedule and observing good sleep hygiene, one can reduce chances of sleep paralysis. It helps subjects to reduce the intake of stimulants and stress in daily life by taking up a hobby or seeing a trained psychologist who can suggest coping mechanisms for stress. However, some cases of ISP and RISP involve a genetic factor—which means some people may find sleep paralysis unavoidable. Practicing meditation regularly might also be helpful in preventing fragmented sleep, and thus the occurrence of sleep paralysis. Research has shown that long-term meditation practitioners spend more time in slow wave sleep, and as such regular meditation practice could reduce nocturnal arousal and thus possibly sleep paralysis.
A link between GlaxoSmithKline's H1N1 flu vaccine Pandemrix and childhood narcolepsy was investigated due to increased prevalence of narcolepsy in Irish, Finnish and Swedish children after vaccinations. Finland's National Institute of Health and Welfare recommended that Pandemrix vaccinations be suspended pending further investigation into 15 reported cases of children developing narcolepsy. In Finland in mid-November 2010, 37 cases of children's narcolepsy had been reported by doctors. This can be compared to the normal average of 3 cases of children's narcolepsy per year. "The incidence of narcolepsy with cataplexy in children/adolescents in the Swedish population increased during the pandemic and vaccination period, with a rapid decline in incidence during the post pandemic period." They concluded that these results "provide strengthened evidence that vaccination with Pandemrix during the pandemic period could be associated with an increase in the risk for narcolepsy with cataplexy in predisposed children/adolescents 19 years and younger." In 2013, the link between Pandemrix and narcolepsy was confirmed by a registry study by the Swedish Medical Products Agency, with a three-fold increase in risk for people under the age of 20.
According to one meta-analysis, the two most prevalent sleep disorders among children are confusional arousals and sleep walking. An estimated 17.3% of kids between 3 and 13 years old experience confusional arousals. About 17% of children sleep walk, with the disorder being more common among boys than girls. The peak ages of sleep walking are from 8 to 12 years old. A different systematic review offers a high range of prevalence rates of sleep bruxism for children. Between 15.29 and 38.6% of preschoolers grind their teeth at least one night a week. All but one of the included studies reports decreasing bruxist prevalence as age increased as well as a higher prevalence among boys than girls.
Another systematic review noted 7-16% of young adults suffer from delayed sleep phase disorder. This disorder reaches peak prevalence when people are in their 20's. Between 20 and 26% of adolescents report a sleep onset latency of >30 minutes. Also, 7-36% have difficulty initiating sleep. Asian teens tend to have a higher prevalence of all of these adverse sleep outcomes than their North American and European counterparts.
Insomnia and wake-time sleepiness are related to misalignment between the timing of the non-standard wake–sleep schedule and the endogenous circadian propensity for sleep and wake. In addition to circadian misalignment, attempted sleep at unusual times can be interrupted by noise, social obligations, and other factors. Finally, there is an inevitable degree of sleep deprivation associated with sudden transitions in sleep schedule.
Waking up in the middle of the night, or nocturnal awakening, is the most frequently reported insomnia symptom, with approximately 35% of Americans over 18 reporting waking up three or more times per week. Of those who experience nocturnal awakenings, 43% report difficulty in resuming sleep after waking, while over 90% report the condition persisting for more than six months. Greater than 50% contend with MOTN conditions for more than five years.
A 2008 "Sleep in America" poll conducted by the National Sleep Foundation found that 42% of respondents awakened during the night at least a few nights a week, and 29% said they woke up too early and couldn’t get back to sleep. Other clinical studies have reported between 25% and 35% of people experience nocturnal awakenings at least three nights a week.
The primary genetic factor that has been strongly implicated in the development of narcolepsy involves an area of chromosome 6 known as the human leukocyte antigen (HLA) complex. Specific variations in HLA genes are strongly correlated with the presence of narcolepsy; however, these variations are not required for the condition to occur and sometimes occur in individuals without narcolepsy. These genetic variations in the HLA complex are thought to increase the risk of an auto-immune response to orexin-releasing neurons in the lateral hypothalamus.
The allele HLA-DQB1*06:02 of the human gene HLA-DQB1 was reported in more than 90% of patients, and alleles of other HLA genes such as HLA-DQA1*01:02 have been linked. A 2009 study found a strong association with polymorphisms in the TRAC gene locus (dbSNP IDs rs1154155, rs12587781, and rs1263646). A 2013 review article reported additional but weaker links to the loci of the genes TNFSF4 (rs7553711), Cathepsin H (rs34593439), and P2RY11-DNMT1 (rs2305795).
Another gene locus that has been associated with narcolepsy is EIF3G (rs3826784).
Circadian rhythm sleep disorders (CRSD) are a family of sleep disorders affecting (among other bodily processes) the timing of sleep. People with circadian rhythm sleep disorders are unable to go to sleep and awaken at the times commonly required for work and school as well as social needs. They are generally able to get enough sleep if allowed to sleep and wake at the times dictated by their "body clocks". The quality of their sleep is usually normal unless they also have another sleep disorder.
Humans, like most living organisms, have various biological rhythms. Circadian rhythms, often referred to as the body clock or the biological clock, control processes that re-occur daily, e.g. body temperature, alertness, and hormone secretion as well as sleep timing. Due to the circadian clock, sleepiness does not continuously increase throughout the day; a person's desire and ability to fall asleep is influenced both by the length of time since the person woke from an adequate sleep and by internal circadian rhythms. Thus, a person's body is ready for sleep and for wakefulness at relatively specific times of the day.
Sleep researcher Yaron Dagan states that "[t]hese disorders can lead to harmful psychological and functional difficulties and are often misdiagnosed and incorrectly treated doctors are unaware of their existence".