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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)
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People with ASPD are unable to stay awake until their desired bedtime and unable to stay asleep until their desired waking time. They will complain to a sleep clinician of early morning insomnia and falling asleep early in the evening. When someone has advanced sleep phase disorder their melatonin levels and core body temperature will cycle hours earlier than an average person. These symptoms must be present for at least three months in order to be correctly diagnosed.
ASPD is a rare disorder. It affects both men and women equally and has been determined to have a strong genetic, link with 40–50% of sufferers having relatives with the disorder. As stated below, several genes have been discovered to have links with this syndrome and the body's circadian rhythms. Although it can be impairing, the syndrome is not necessarily unhealthy; most people don't seek help unless it starts to severely impact their social life.
Symptoms reported by patients forced into a 24-hour schedule are similar to those of sleep deprivation and can include:
- Apraxia including ideational apraxia, ideomotor apraxia, kinetic apraxia, limb apraxia, verbal apraxia
- Cognitive dysfunction
- Difficulties concentrating
- Confusion
- Depressed mood
- Diarrhea
- Extreme nausea
- Extreme fatigue
- Hair loss
- Headaches
- Impaired balance
- Photosensitivity
- Joint pain
- Loss of muscle coordination (ataxia)
- Menstrual irregularities
- Muscle pain
- Suicidal thoughts
- Weight gain
- Hallucinations
It has been estimated that non-24 occurs in more than half of all people who are totally blind. The disorder can occur at any age, from birth onwards. It generally follows shortly after loss or removal of a person’s eyes, as the photosensitive ganglion cells in the retina are also removed.
Without light to the retina, the suprachiasmatic nucleus (SCN), located in the hypothalamus, is not cued each day to synchronize the circadian rhythm to the 24-hour social day, resulting in non-24 for many totally blind individuals. Non-24 is rare among visually impaired patients who retain at least some light perception. Researchers have found that even minimal light exposure at night can affect the body clock.
Although central and obstructive sleep apnea have some signs and symptoms in common, others are present in one but absent in another, enabling differential diagnosis as between the two types:
Signs and symptoms of sleep apnea generally
- Signs:
- Symptoms:
Signs and symptoms of central sleep apnea
- Signs:
- Symptoms:
Signs and symptoms of and conditions associated with obstructive sleep apnea
- Signs:
- Symptoms:
- Associated conditions:
The true primary hypersomnias include these: narcolepsy (with and without cataplexy); idiopathic hypersomnia; and recurrent hypersomnias (like Klein-Levin syndrome).
There are also several genetic disorders that may be associated with primary/central hypersomnia. These include the following: Prader-Willi syndrome; Norrie disease; Niemann–Pick disease, type C; and myotonic dystrophy. However, hypersomnia in these syndromes may also be associated with other secondary causes, so it is important to complete a full evaluation. Interestingly, myotonic dystrophy is often associated with SOREMPs (sleep onset REM periods, such as occur in narcolepsy).
There are many neurological disorders that may mimic the primary hypersomnias, narcolepsy and idiopathic hypersomnia: brain tumors; stroke-provoking lesions; and dysfunction in the thalamus, hypothalamus, or brainstem. Also, neurodegenerative conditions such as Alzheimer's disease, Parkinson's disease, or multiple system atrophy are frequently associated with primary hypersomnia. However, in these cases, one must still rule out other secondary causes.
Early hydrocephalus can also cause severe EDS. Additionally, head trauma can be associated with a primary/central hypersomnia, and symptoms similar to those of idiopathic hypersomnia can be seen within 6–18 months following the trauma. However, the associated symptoms of headaches, memory loss, and lack of concentration may be more frequent in head trauma than in idiopathic hypersomnia. "The possibility of secondary narcolepsy following head injury in previously asymptomatic individuals has also been reported."
Because of the abnormal writhing movements, often patients’ sleep patterns are disrupted. This may be due to RMD’s comorbidity with sleep apnea, which has been observed in some patients
. Many find that their sleep is not refreshing and are tired or stressed the following day, despite getting a full nights rest. However, other patients report that their sleep patterns are infrequently interrupted due to RMD episodes and do not report being excessively sleepy during the next day as scored on the Epworth Sleepiness Scale. Thus, as can be seen, the effects and severity of RMD vary from person to person.
Central sleep apnea (CSA) or central sleep apnea syndrome (CSAS) is a sleep-related disorder in which the effort to breathe is diminished or absent, typically for 10 to 30 seconds either intermittently or in cycles, and is usually associated with a reduction in blood oxygen saturation. CSA is usually due to an instability in the body's feedback mechanisms that control respiration. Central sleep apnea can also be an indicator of Arnold–Chiari malformation.
There are over 30 recognized kinds of dyssomnias. Major groups of dyssomnias include:
- Intrinsic sleep disorders – 12 disorders recognized, including
- idiopathic hypersomnia,
- narcolepsy,
- periodic limb movement disorder,
- restless legs syndrome,
- sleep apnea,
- sleep state misperception.
- Extrinsic sleep disorders – 13 disorders recognized, including
- alcohol-dependent sleep disorder,
- food allergy insomnia,
- inadequate sleep routine.
- Circadian rhythm sleep disorders, both intrinsic and extrinsic – 6 disorders recognized, including
- advanced sleep phase syndrome,
- delayed sleep phase syndrome,
- jetlag,
- shift work sleep disorder.
Dyssomnias are a broad classification of sleeping disorders involving difficulty getting to sleep, remaining asleep, or of excessive sleepiness.
Dyssomnias are primary disorders of initiating or maintaining sleep or of excessive sleepiness and are characterized by a disturbance in the amount, quality, or timing of sleep.
Patients may complain of difficulty getting to sleep or staying asleep, intermittent wakefulness during the night, early morning awakening, or combinations of any of these. Transient episodes are usually of little significance. Stress, caffeine, physical discomfort, daytime napping, and early bedtimes are common factors.
Shift work sleep disorder (SWSD) is a circadian rhythm sleep disorder characterized by insomnia and excessive sleepiness affecting people whose work hours overlap with the typical sleep period. There are numerous shift work schedules, and they may be permanent, intermittent, or rotating; consequently, the manifestations of SWSD are quite variable.
Symptoms of UARS are similar to those of obstructive sleep apnea, but are usually less severe. Fatigue, daytime sleepiness, unrefreshing sleep, and frequent awakenings during sleep are the most common symptoms.
Many patients experience chronic insomnia that creates both a difficulty falling asleep and staying asleep. As a result, patients typically experience frequent sleep disruptions. Loud snoring also serves as a possible indicator of the syndrome, but is not a symptom required for diagnosis.
Some patients experience hypotension, which may cause lightheadedness, and patients with UARS are also more likely to experience headaches and irritable bowel syndrome.
RBD is characterized by the dreamer acting out his or her dreams. These dreams often involve kicking, screaming, punching, grabbing, and even jumping out of bed. When awakened, people can usually recall the dream they were having, which will match the actions they were performing, but they will not be aware that they were moving. In a normal sleep cycle, REM sleep may be experienced at intervals of between 90 minutes and two hours every night, which means RBD episodes may occur up to four times a night. In a rare case, they may only happen once a week or once a month. Episodes occur more towards the morning hours because that is when REM sleep is more frequent. The actions in an episode can result in injuries to oneself or one's bed partner. People can also respond to other people while sleeping and not even know it. This causes them to be aware of things while they are sleeping, which can result in sleep deprivation.
Symptoms of Rhythmic Movement Disorder vary, but most sufferers share common large muscle movement patterns. Many sufferers show consistent symptoms including:
- body rocking, where the whole body is moved while on the hands and knees.
- head banging, where the head is forcibly moved in a back and forth direction.
- head rolling, where the head is moved laterally while in a supine position.
Other less common muscle movements include:
- body rolling, where the whole body is moved laterally while in a supine position.
- leg rolling, where one or both legs are moved laterally.
- leg banging, where one or both legs are moved in a back and forth direction.
- a combination of the aforementioned symptoms
The majority of sufferers have symptoms that involve the head, and the most common symptom is head banging. Usually, the head strikes a pillow or mattress near the frontal-parietal region. There is little cause for alarm at the movements as injury or brain damage as a result of the movements is rare. Some infants with diagnosed Costello Syndrome have been observed to have unique RMD episodes affecting the tongue and other facial muscles, which is an uncommonly affected area. Episodes usually last less than fifteen minutes and produce movements that vary from 0.5 to 2 Hz. Muscle movements during REM sleep are often twitches and occur simultaneously with normal sleep. The position of the body during sleep may determine which motor symptom is displayed. For example, Anderson et al. reported that one individual showed entire body rolling movements while sleeping on his side while displaying head rolling movements when sleeping supine.
There are two main characteristics of narcolepsy: excessive daytime sleepiness and abnormal REM sleep. The first, excessive daytime sleepiness (EDS), occurs even after adequate night time sleep. A person with narcolepsy is likely to become drowsy or fall asleep, often at inappropriate times and places, or just be very tired throughout the day. Narcoleptics are not able to experience the amount of restorative deep sleep that healthy people experience – they are not "over-sleeping". In fact, narcoleptics live their entire lives in a constant state of extreme sleep deprivation.
Daytime naps may occur with little warning and may be physically irresistible. These naps can occur several times a day. They are typically refreshing, but only for a few hours or less. Vivid dreams may be experienced on a regular basis, even during very brief naps. Drowsiness may persist for prolonged periods or remain constant. In addition, night-time sleep may be fragmented, with frequent awakenings. A second prominent symptom of narcolepsy is abnormal REM sleep. Narcoleptics are unique in that they enter into the REM phase of sleep in the beginnings of sleep, even when sleeping during the day.
The classic symptoms of the disorder, often referred to as the "tetrad of narcolepsy," are cataplexy, sleep paralysis, hypnagogic hallucinations, and excessive daytime sleepiness. Other symptoms may include automatic behaviors and night-time wakefulness. These symptoms may not occur in all patients.
- Cataplexy is an episodic loss of muscle function, ranging from slight weakness such as limpness at the neck or knees, sagging facial muscles, weakness at the knees often referred to as "knee buckling", or inability to speak clearly, to a complete body collapse. Episodes may be triggered by sudden emotional reactions such as laughter, anger, surprise, or fear, and may last from a few seconds to several minutes. The person remains conscious throughout the episode. In some cases, cataplexy may resemble epileptic seizures. Usually speech is slurred and vision is impaired (double vision, inability to focus), but hearing and awareness remain normal. Cataplexy also has a severe emotional impact on narcoleptics, as it can cause extreme anxiety, fear, and avoidance of people or situations that might elicit an attack. Cataplexy is generally considered to be unique to narcolepsy and is analogous to sleep paralysis in that the usually protective paralysis mechanism occurring during sleep is inappropriately activated. The opposite of this situation (failure to activate this protective paralysis) occurs in rapid eye movement behavior disorder.
- Periods of wakefulness at night
- Sleep paralysis is the temporary inability to talk or move when waking (or less often, when falling asleep). It may last a few seconds to minutes. This is often frightening but is not dangerous.
- Hypnagogic hallucinations are vivid, often frightening, dreamlike experiences that occur while dozing or falling asleep. Hypnopompic hallucinations refer to the same sensations while awakening from sleep. These hallucinations may manifest in the form of visual or auditory sensations.
- Automatic behaviors occur when a person continues to function (talking, putting things away, etc.) during sleep episodes but awakens with no memory of performing such activities. It is estimated that up to 40 percent of people with narcolepsy experience automatic behavior during sleep episodes.
In most cases, the first symptom of narcolepsy to appear is excessive and overwhelming daytime sleepiness. The other symptoms may begin alone or in combination months or years after the onset of the daytime naps. There are wide variations in the development, severity, and order of appearance of cataplexy, sleep paralysis, and hypnagogic hallucinations in individuals. Only about 20 to 25 percent of people with narcolepsy experience all four symptoms. The excessive daytime sleepiness generally persists throughout life, but sleep paralysis and hypnagogic hallucinations may not. A rare subset of narcoleptics also experience a heightened sense of taste and smell known as the supertaster phenomenon.
Many people with narcolepsy also suffer from insomnia for extended periods of time. The excessive daytime sleepiness and cataplexy often become severe enough to cause serious problems in a person's social, personal, and professional life. Normally, when an individual is awake, brain waves show a regular rhythm. When a person first falls asleep, the brain waves become slower and less regular, which is called non-rapid eye movement (NREM) sleep. After about an hour and a half of NREM sleep, the brain waves begin to show a more active pattern again, called REM sleep (rapid eye movement sleep), when most remembered dreaming occurs. Associated with the EEG-observed waves during REM sleep, muscle atonia is present called REM atonia.
In narcolepsy, the order and length of NREM and REM sleep periods are disturbed, with REM sleep occurring at sleep onset instead of after a period of NREM sleep. Also, some aspects of REM sleep that normally occur only during sleep, like lack of muscular control, sleep paralysis, and vivid dreams, occur at other times in people with narcolepsy. For example, the lack of muscular control can occur during wakefulness in a cataplexy episode; it is said that there is intrusion of REM atonia during wakefulness. Sleep paralysis and vivid dreams can occur while falling asleep or waking up. Simply put, the brain does not pass through the normal stages of dozing and deep sleep but goes directly into (and out of) rapid eye movement (REM) sleep.
As a consequence night time sleep does not include as much deep sleep, so the brain tries to "catch up" during the day, hence EDS. People with narcolepsy may visibly fall asleep at unpredicted moments (such motions as head bobbing are common). People with narcolepsy fall quickly into what appears to be very deep sleep, and they wake up suddenly and can be disoriented when they do (dizziness is a common occurrence). They have very vivid dreams, which they often remember in great detail. People with narcolepsy may dream even when they only fall asleep for a few seconds. Along with vivid dreaming, people with narcolepsy are known to have audio or visual hallucinations prior to falling asleep.
Narcoleptics can gain excess weight; children can gain 20 to 40 lb (9 to 18 kg) when they first develop narcolepsy; in adults the body-mass index is about 15% above average.
Rapid eye movement behavior disorder (RBD) occurs when there is a loss of normal voluntary muscle atonia during REM sleep resulting in motor behavior in response to dream content. It can be caused by adverse reactions to certain drugs or during drug withdrawal; however, it is most often associated with the elderly and in those with neurodegenerative disorders such as Parkinson disease and other neurodegenerative diseases, for example multiple system atrophy and Lewy body dementia.
RBD is categorized as either idiopathic or symptomatic.
The primary symptoms of shift work sleep disorder are insomnia and excessive sleepiness associated with working (and sleeping) at non-standard times. Shift work sleep disorder is also associated with falling asleep at work. Total daily sleep time is usually shortened and sleep quality is less in those who work night shifts compared to those who work day shifts. Sleepiness is manifested as a desire to nap, unintended dozing, impaired mental acuity, irritability, reduced performance, and accident proneness. Shift work is often combined with extended hours of duty, so fatigue can be a compounding factor. The symptoms coincide with the duration of shift work and usually remit with the adoption of a conventional sleep-wake schedule. The boundary between a "normal response" to the rigors of shift work and a diagnosable disorder is not sharp.
Parasomnia disorders are classified into the following categories:
- arousal disorders
- sleep-wake transition disorders
- parasomnias associated with REM sleep
ISWD has various causes, including neurological disorders such as dementia (particularly Alzheimer's Disease), brain damage, or mental retardation. It is thought that sufferers have a weak circadian clock. The risk for the disorder increases with age, but only due to increased prevalence of co-morbid medical disorders.
A sleep diary should be kept to aid in diagnosis and for chronicling the sleep schedule during treatment. Other ways to monitor the sleep schedule are actigraphy or use of a Continuous Positive Airway Pressure (CPAP) machine that can log sleeping times
The following are possible warning signs:
- sleeping off and on in a series of naps during the day and at night, with no regular pattern but with normal total sleep time,
- difficulty getting restorative sleep, and
- excessive daytime sleepiness.
Because of the changes in sleep/wake time, and because this is a rare disorder, initially it can seem like another circadian rhythm sleep disorder such as non-24-hour sleep–wake disorder or like insomnia.
OSA can also occur as a serious post-operative complication that seems to be most frequently associated with pharyngeal flap surgery as compared to other procedures for the treatment of velopharyngeal inadequacy (VPI). In OSA, recurrent interruptions of respiration during sleep are associated with temporary airway obstruction. Following pharyngeal flap surgery, depending on size and position, the flap itself may have an "" or obstructive effect within the pharynx during sleep, blocking ports of airflow and hindering effective respiration. There have been documented instances of severe airway obstruction, and reports of post-operative OSA continues to increase as healthcare professionals (i.e. physicians, speech language pathologists) become more educated about this possible dangerous condition. Subsequently, in clinical practice, concerns of OSA have matched or exceeded interest in speech outcomes following pharyngeal flap surgery.
The surgical treatment for velopalatal insufficiency may cause obstructive sleep apnea syndrome. When velopalatal insufficiency is present, air leaks into the nasopharynx even when the soft palate should close off the nose. A simple test for this condition can be made by placing a tiny mirror on the nose, and asking the subject to say "P". This p sound, a plosive, is normally produced with the nasal airway closes off - all air comes out of the pursed lips, none from the nose. If it is impossible to say the sound without fogging a nasal mirror, there is an air leak - reasonable evidence of poor palatal closure. Speech is often unclear due to inability to pronounce certain sounds. One of the surgical treatments for velopalatal insufficiency involves tailoring the tissue from the back of the throat and using it to purposefully cause partial obstruction of the opening of the nasopharynx. This may actually "cause" OSA syndrome in susceptible individuals, particularly in the days following surgery, when swelling occurs (see below: Special Situation: Anesthesia and Surgery).
Finally, patients with OSA are at an increased risk of many perioperative complications when they are present for surgery, even if the planned procedure is not on the head and neck. Guidelines intended to reduce the risk of perioperative complications have been published.
Recurrent Isolated Sleep Paralysis is an inability to perform voluntary movements at sleep onset, or upon waking from sleep.
Although this so-called "hypersomnolence" (excessive sleepiness) may also occur in children, it is not at all typical of young children with sleep apnea. Toddlers and young children with severe OSA instead ordinarily behave as if "over-tired" or "hyperactive." Adults and children with very severe OSA also differ in typical body "habitus". Adults are generally heavy, with particularly short and heavy necks. Young children, on the other hand, are generally not only thin but may have "failure to thrive", where growth is reduced. Poor growth occurs for two reasons: the work of breathing is intense enough that calories are burned at high rates even at rest, and the nose and throat are so obstructed that eating is both tasteless and physically uncomfortable. OSA in children, unlike adults, is often caused by obstructive tonsils and adenoids and may sometimes be cured with tonsillectomy and adenoidectomy.
This problem can also be caused by excessive weight in children. In this case, the symptoms are more like the symptoms adults feel such as restlessness, exhaustion, etc.
Children with OSA may experience learning and memory deficits and OSA has also been linked to lowered childhood IQ scores.
Under DSM-5 criteria, there are 11 diagnostic groups that comprise sleep-wake disorders. These include, Insomnia disorder, Hypersomnolence disorder, Narcolepsy, Obstructive sleep apnea hypopnea, Central sleep apnea, Sleep-related hypoventilation, Circadian rhythm sleep-wake disorders, Non–rapid eye movement (NREM) sleep arousal disorders, Nightmare disorder, Rapid eye movement (REM) sleep behavior disorder, Restless legs syndrome, and substance-medication-induced sleep disorder. Sexsomnia is classified under NREM arousal parasomnia.