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Apnea of prematurity is defined as cessation of breathing by a premature infant that lasts for more than 20 seconds and/or is accompanied by hypoxia or bradycardia. Apnea is traditionally classified as either "obstructive, central, or mixed". Obstructive apnea may occur when the infant's neck is hyperflexed or conversely, hyperextended. It may also occur due to low pharyngeal muscle tone or to inflammation of the soft tissues, which can block the flow of air though the pharynx and vocal cords. Central apnea occurs when there is a lack of respiratory effort. This may result from central nervous system immaturity, or from the effects of medications or illness. Many episodes of apnea of prematurity may start as either obstructive or central, but then involve elements of both, becoming mixed in nature.
Obstructive apnea occurs when the airway passages are obstructed and little to no air exchange occurs, resulting in impaired breathing. In some cases, it occurs when patients are born with a small airway opening. Patients with obstructive apnea often have vigorous inspiratory effort but the efforts are still ineffective. Normally, the muscles at the level of the throat relax and dilate while asleep in order to open up airway however, patients with obstructive apnea may have decreased neuromuscular tone of the muscles responsible for dilating the pharynx during sleep. The inability of the vocal cords to move and the presence of a foreign body may also cause obstructive apnea. Cases of obstructive apnea are rarely found in infants that are healthy.
Apnea of prematurity can be readily identified from other forms of infant apnea such as obstructive apnea, hypoventilation syndromes, breathing regulation issues during feeding, and reflux associated apnea with an infant pneumogram or infant apnea/sleep study.
Mixed apnea is a combination of both central and obstructive factors. The majority of premature infants with sleep apnea have mixed apnea.
The word "hypopnea" uses combining forms of "" + "", from the Greek roots "hypo-" (meaning "low", "under", "beneath", "down", "below normal") and "pnoia" (meaning "breathing"). See pronunciation information at "dyspnea".
Hypopnea or hypopnoea is overly shallow breathing or an abnormally low respiratory rate. Hypopnea is defined by some to be less severe than apnea (the complete cessation of breathing), while other researchers have discovered hypopnea to have a "similar if not indistinguishable impact" on the negative outcomes of sleep breathing disorders. In sleep clinics, obstructive sleep apnea syndrome or obstructive sleep apnea–hypopnea syndrome is normally diagnosed based on the frequent presence of apneas and/or hypopneas rather than differentiating between the two phenomena. Hypopnea is typically defined by a decreased amount of air movement into the lungs and can cause oxygen levels in the blood to drop. It commonly is due to partial obstruction of the upper airway.
Hypopnea during sleep is classed as a sleep disorder. With moderate to severe hypopnea, sleep is disturbed such that patients may get a full night's sleep but still not feel rested because they did not get the right kind of sleep. The disruption in breathing causes a drop in blood oxygen level, which may in turn disrupt the stages of sleep.
Daytime hypopnea events, however, are mostly limited to those with severely compromised respiratory muscles, as occurs in certain neuromuscular diseases or compromised central respiratory drive, as occurs in conditions such as acquired or congenital central hypoventilation syndrome (ACHS or CCHS). Daytime hypopnea can also cause a drop in blood oxygen level.
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
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Signs and symptoms of central sleep apnea
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Signs and symptoms of and conditions associated with obstructive sleep apnea
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Common symptoms of OSA include unexplained daytime sleepiness, restless sleep, and loud snoring (with periods of silence followed by gasps). Less common symptoms are morning headaches; insomnia; trouble concentrating; mood changes such as irritability, anxiety and depression; forgetfulness; increased heart rate and/or blood pressure; decreased sex drive; unexplained weight gain; increased urination and/or nocturia; frequent heartburn or gastroesophageal reflux disease; and heavy night sweats.
Obstructive sleep apnea (OSA) is the most common type of sleep apnea and is caused by complete or partial obstructions of the upper airway. It is characterized by repetitive episodes of shallow or paused breathing during sleep, despite the effort to breathe, and is usually associated with a reduction in blood oxygen saturation. These episodes of decreased breathing, called "apneas" (literally, "without breath"), typically last 20 to 40 seconds.
Individuals with OSA are rarely aware of difficulty breathing, even upon awakening. It is often recognized as a problem by others who observe the individual during episodes or is suspected because of its effects on the body. OSA is commonly accompanied with snoring. Some use the terms obstructive sleep apnea syndrome or obstructive sleep apnea–hypopnea syndrome to refer to OSA which is associated with symptoms during the daytime. Symptoms may be present for years or even decades without identification, during which time the individual may become conditioned to the daytime sleepiness and fatigue associated with significant levels of sleep disturbance. Individuals who generally sleep alone are often unaware of the condition, without a regular bed-partner to notice and make them aware of their symptoms.
As the muscle tone of the body ordinarily relaxes during sleep, and the airway at the throat is composed of walls of soft tissue, which can collapse, it is not surprising that breathing can be obstructed during sleep. Although a minor degree of OSA is considered to be within the bounds of normal sleep, and many individuals experience episodes of OSA at some point in life, a small percentage of people have chronic, severe OSA.
Many people experience episodes of OSA for only a short period. This can be the result of an upper respiratory infection that causes nasal congestion, along with swelling of the throat, or tonsillitis that temporarily produces very enlarged tonsils. The Epstein-Barr virus, for example, is known to be able to dramatically increase the size of lymphoid tissue during acute infection, and OSA is fairly common in acute cases of severe infectious mononucleosis. Temporary spells of OSA syndrome may also occur in individuals who are under the influence of a drug (such as alcohol) that may relax their body tone excessively and interfere with normal arousal from sleep mechanisms.
A diagnosis of sleep apnea requires determination by a physician. The examination may require a study of an individual in a sleep lab, although the AAST has said a two belt IHT (In Home Test) will replace a PSG for diagnosing obstructive apnea. There, the patient will be monitored while at rest, and the periods when breathing ceases will be measured with respect to length and frequency. During a PSG (polysomnography) (a sleep study), a person with sleep apnea shows breathing interruptions followed by drops/reductions in blood oxygen and increases in blood carbon dioxide level.
- In adults, a pause must last 10 seconds to be scored as an apnea. However, in young children, who normally breathe at a much faster rate than adults, shorter pauses may still be considered apneas.
- Hypopneas in adults are defined as a 30% reduction in air flow for more than ten seconds, followed by oxygen-saturation declines of at least 3% or 4% per the AASM stndards. and/or EEG arousal. The Apnea-Hypopnea Index (AHI) is expressed as the number of apneas or hypopneas per hour of sleep.
As noted above, in central sleep apnea, the cessation of airflow is associated with the absence of physical attempts to breathe; specifically, polysomnograms reveal correlation between absence of rib cage and abdominal movements and cessation of airflow at the nose and lips. By contrast, in obstructive sleep apnea, pauses are not correlated with the absence of attempts to breathe and may even be correlated with more effortful breathing in an instinctive attempt to overcome the pressure on the sufferer's airway. If the majority of a sleep-apnea sufferer's apneas/hypopneas are central, his condition is classified as central; likewise, if the majority are obstructive, his condition is classified as obstructive.
CHS is associated with respiratory arrests during sleep and, in some cases, to neuroblastoma (tumors of the sympathetic ganglia), Hirschsprung disease (partial agenesis of the enteric nervous system), dysphagia (difficulty swallowing) and anomalies of the pupilla. Other symptoms include darkening of skin color from inadequate amounts of oxygen, drowsiness, fatigue, headaches, and an inability to sleep at night. Those suffering from Ondine's curse also have a sensitivity to sedatives and narcotics, which makes respiration even more difficult. A low concentration of oxygen in the red blood cells also may cause hypoxia-induced pulmonary vasoconstriction and pulmonary hypertension, culminating in cor pulmonale or a failure of the right side of the heart. Associated complications may also include gastro-esophageal reflux, ophthalmologic issues, seizures, recurrent pneumonia, developmental delays, learning disabilities and episodes of fainting and temperature disregulation.
Symptoms and signs of early hypercapnia include flushed skin, full pulse, tachypnea, dyspnea, extrasystoles, muscle twitches, hand flaps, reduced neural activity, and possibly a raised blood pressure. According to other sources, symptoms of mild hypercapnia might include headache, confusion and lethargy. Hypercapnia can induce increased cardiac output, an elevation in arterial blood pressure, and a propensity toward arrhythmias. Hypercapnia may increase pulmonary capillary resistance. In severe hypercapnia (generally PaCO greater than 10 kPa or 75 mmHg), symptomatology progresses to disorientation, panic, hyperventilation, convulsions, unconsciousness, and eventually death.
Children with CCHS develop life-threatening episodes of apnea with cyanosis, usually in the first months of life. Medical evaluation excludes lesions of the brain, heart, and lungs but demonstrates impaired responses to build-up of carbon dioxide (hypercapnia) and decreases of oxygen in the circulation (hypoxia), the two strongest stimuli to increase breathing rate.
Polysomnography shows that hypoventilation is most marked during slow-wave sleep. In the most severe cases, hypoventilation is present during other nonrapid eye movement sleep stages and even wakefulness. A subset of CCHS patients are at very high risk for developing malignant neural crest-derived tumors, such as neuroblastoma.
The sequence of "PHOX2B" reveals mutations in 91% of the cases.
As in many disorders that are very rare, an infant with this unusual form of sleep apnea suffers from the probability that their physician has most likely never seen another case and will not recognize the diagnosis. In some locations, such as France, optimal management of patients, once identified, has been aided by the creation of a national registry and the formation of a network of centers.
In an acute context, hypoxemia can cause symptoms such as those in respiratory distress. These include breathlessness, an increased rate of breathing, use of the chest and abdominal muscles to breathe, and lip pursing.
Chronic hypoxemia may be compensated or uncompensated. The compensation may cause symptoms to be overlooked initially, however, further disease or a stress such as any increase in oxygen demand may finally unmask the existing hypoxemia. In a compensated state, blood vessels supplying less-ventilated areas of the lung may selectively contract, to redirect the blood to areas of the lungs which are better ventilated. However, in a chronic context, and if the lungs are not well ventilated generally, this mechanism can result in pulmonary hypertension, overloading the right ventricle of the heart and causing cor pulmonale and right sided heart failure. Polycythemia can also occur. In children, chronic hypoxemia may manifest as delayed growth, neurological development and motor development and decreased sleep quality with frequent sleep arousals.
Other symptoms of hypoxemia may include cyanosis, digital clubbing, and symptoms that may relate to the cause of the hypoxemia, including cough and hemoptysis.
Serious hypoxemia occurs (1) when the partial pressure of oxygen in blood is less than 60 mm Hg, (the beginning of the steep portion of the oxygen–haemoglobin dissociation curve, where a small decrease in the partial pressure of oxygen results in a large decrease in the oxygen content of the blood); or (2) when hemoglobin oxygen saturation is less than 90%. Severe hypoxia can lead to respiratory failure
Obesity hypoventilation syndrome is a form of sleep disordered breathing. Two subtypes are recognized, depending on the nature of disordered breathing detected on further investigations. The first is OHS in the context of obstructive sleep apnea; this is confirmed by the occurrence of 5 or more episodes of apnea, hypopnea or respiratory-related arousals per hour (high apnea-hypopnea index) during sleep. The second is OHS primarily due to "sleep hypoventilation syndrome"; this requires a rise of CO levels by 10 mmHg (1.3 kPa) after sleep compared to awake measurements and overnight drops in oxygen levels without simultaneous apnea or hypopnea. Overall, 90% of all people with OHS fall into the first category, and 10% in the second.
IRDS begins shortly after birth and is manifest by fast breathing, more than 60 per minute, a fast heart rate, chest wall retractions (recession), expiratory grunting, nasal flaring and blue discoloration of the skin during breathing efforts.
As the disease progresses, the baby may develop ventilatory failure (rising carbon dioxide concentrations in the blood), and prolonged cessations of breathing ("apnea"). Whether treated or not, the clinical course for the acute disease lasts about 2 to 3 days. During the first day the patient worsens and requires more support. During the second day the baby may be remarkably stable on adequate support and resolution is noted during the third day, heralded by a prompt diuresis. Despite huge advances in care, IRDS remains the most common single cause of death in the first month of life in the developed world. Complications include metabolic disorders (acidosis, low blood sugar), patent ductus arteriosus, low blood pressure, chronic lung changes, and bleeding in the brain. The disease is frequently complicated by prematurity and its additional defects in other organ function.
Hypercapnia, also known as hypercarbia and CO retention, is a condition of abnormally elevated carbon dioxide (CO) levels in the blood. Carbon dioxide is a gaseous product of the body's metabolism and is normally expelled through the lungs.
Hypercapnia normally triggers a reflex which increases breathing and access to oxygen (O), such as arousal and turning the head during sleep. A failure of this reflex can be fatal, for example as a contributory factor in sudden infant death syndrome.
Hypercapnia is the opposite of hypocapnia, the state of having abnormally reduced levels of carbon dioxide in the blood. Hypercapnia is from the Greek "hyper" = "above" or "too much" and "kapnos" = "smoke".
Most people with obesity hypoventilation syndrome have concurrent obstructive sleep apnea, a condition characterized by snoring, brief episodes of apnea (cessation of breathing) during the night, interrupted sleep and excessive daytime sleepiness. In OHS, sleepiness may be worsened by elevated blood levels of carbon dioxide, which causes drowsiness ("CO narcosis"). Other symptoms present in both conditions are depression, and hypertension (high blood pressure) that is difficult to control with medication. The high carbon dioxide can also cause headaches, which tend to be worsening in the morning.
The low oxygen level leads to physiologic constriction of the pulmonary arteries to correct ventilation-perfusion mismatching, which puts excessive strain on the right side of the heart. When this leads to right sided heart failure, it is known as "cor pulmonale". Symptoms of this disorder occur because the heart has difficulty pumping blood from the body through the lungs. Fluid may, therefore, accumulate in the skin of the legs in the form of edema (swelling), and in the abdominal cavity in the form of ascites; decreased exercise tolerance and exertional chest pain may occur. On physical examination, characteristic findings are the presence of a raised jugular venous pressure, a palpable parasternal heave, a heart murmur due to blood leaking through the tricuspid valve, hepatomegaly (an enlarged liver), ascites and leg edema. Cor pulmonale occurs in about a third of all people with OHS.
A variety of conditions that physically limit airflow can lead to hypoxemia.
- Suffocation, including temporary interruption temporary cessation of breathing as in obstructive sleep apnea, or bedclothes may interfere with breathing in infants, a putative cause of SIDS.
- Structural deformities of the chest, such as scoliosis and kyphosis, which can restrict breathing and lead to hypoxia.
- Muscle weakness, which may limit the ability of the diaphragm, the primary muscle for drawing new air into lungs, to function. This may be a result of a congenital disease, such as motor neuron disease, or an acquired condition, such as fatigue in severe cases of COPD.
Obstructive sleep apnea (OSA) is the most common category of sleep-disordered breathing. The muscle tone of the body ordinarily relaxes during sleep, and at the level of the throat the human airway is composed of collapsible walls of soft tissue which can obstruct breathing. Mild occasional sleep apnea, such as many people experience during an upper respiratory infection, may not be significant, but chronic severe obstructive sleep apnea requires treatment to prevent low blood oxygen (hypoxemia), sleep deprivation, and other complications.
Individuals with low muscle tone and soft tissue around the airway (e.g., because of obesity) and structural features that give rise to a narrowed airway are at high risk for obstructive sleep apnea. The elderly are more likely to have OSA than young people. Men are more likely to suffer sleep apnea than women and children are, though it is not uncommon in the last two population groups.
The risk of OSA rises with increasing body weight, active smoking and age. In addition, patients with diabetes or "borderline" diabetes have up to three times the risk of having OSA.
Common symptoms include loud snoring, restless sleep, and sleepiness during the daytime. Diagnostic tests include home oximetry or polysomnography in a sleep clinic.
Some treatments involve lifestyle changes, such as avoiding alcohol or muscle relaxants, losing weight, and quitting smoking. Many people benefit from sleeping at a 30-degree elevation of the upper body or higher, as if in a recliner. Doing so helps prevent the gravitational collapse of the airway. Lateral positions (sleeping on a side), as opposed to supine positions (sleeping on the back), are also recommended as a treatment for sleep apnea, largely because the gravitational component is smaller in the lateral position. Some people benefit from various kinds of oral appliances such as the Mandibular advancement splint to keep the airway open during sleep. Continuous positive airway pressure (CPAP) is the most effective treatment for severe obstructive sleep apnea but oral appliances are considered a first line approach equal to CPAP for mild to moderate sleep apnea according to the AASM parameters of care. There are also surgical procedures to remove and tighten tissue and widen the airway.
Snoring is a common finding in people with this syndrome. Snoring is the turbulent sound of air moving through the back of the mouth, nose, and throat. Although not everyone who snores is experiencing difficulty breathing, snoring in combination with other risk factors has been found to be highly predictive of OSA. The loudness of the snoring is not indicative of the severity of obstruction, however. If the upper airways are tremendously obstructed, there may not be enough air movement to make much sound. Even the loudest snoring does not mean that an individual has sleep apnea syndrome. The sign that is most suggestive of sleep apneas occurs when snoring "stops".
Other indicators include (but are not limited to): hypersomnolence, obesity BMI >30, large neck circumference ( in women, in men), enlarged tonsils and large tongue volume, micrognathia, morning headaches, irritability/mood-swings/depression, learning and/or memory difficulties, and sexual dysfunction.
The term "sleep-disordered breathing" is commonly used in the U.S. to describe the full range of breathing problems during sleep in which not enough air reaches the lungs (hypopnea and apnea). Sleep-disordered breathing is associated with an increased risk of cardiovascular disease, stroke, high blood pressure, arrhythmias, diabetes, and sleep deprived driving accidents. When high blood pressure is caused by OSA, it is distinctive in that, unlike most cases of high blood pressure (so-called essential hypertension), the readings do "not" drop significantly when the individual is sleeping. Stroke is associated with obstructive sleep apnea.
It has been revealed that people with OSA show tissue loss in brain regions that help store memory, thus linking OSA with memory loss. Using magnetic resonance imaging (MRI), the scientists discovered that people with sleep apnea have mammillary bodies that are about 20 percent smaller, particularly on the left side. One of the key investigators hypothesized that repeated drops in oxygen lead to the brain injury.
Some people with sleep apnea have a combination of both types; its prevalence ranges from 0.56% to 18%. The condition is generally detected when obstructive sleep apnea is treated with CPAP and central sleep apnea emerges. The exact mechanism of the loss of central respiratory drive during sleep in OSA is unknown but is most likely related to incorrect settings of the CPAP treatment and other medical conditions the person has.
Infant respiratory distress syndrome (IRDS), also called neonatal respiratory distress syndrome (NRDS), respiratory distress syndrome of newborn, or increasingly surfactant deficiency disorder (SDD), and previously called hyaline membrane disease (HMD), is a syndrome in premature infants caused by developmental insufficiency of pulmonary surfactant production and structural immaturity in the lungs. It can also be a consequence of neonatal infection. It can also result from a genetic problem with the production of surfactant associated proteins. IRDS affects about 1% of newborn infants and is the leading cause of death in preterm infants. The incidence decreases with advancing gestational age, from about 50% in babies born at 26–28 weeks, to about 25% at 30–31 weeks. The syndrome is more frequent in infants of diabetic mothers and in the second born of premature twins.
IRDS is distinct from pulmonary hypoplasia, another leading cause of neonatal death that involves respiratory distress.
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.
Upper airway resistance syndrome is caused when the upper airway narrows without closing. Consequently, airflow is either reduced or compensated for through an increase in inspiratory efforts. This increased activity in inspiratory muscles leads to the arousals during sleep which patients may or may not be aware of.
A typical UARS patient is not obese and possesses a triangular face and misaligned jaw, which can result in a smaller amount of space behind the base of the tongue. Patients may have other anatomical abnormalities that can cause UARS such as deviated septum or nasal valve collapse. UARS affects equal numbers of males and females. It is unclear as to whether UARS is merely a phase that occurs between simple snoring and sleep apneas, or whether UARS is a syndrome that describes a deviation from normal upper airway physiology.
Children with UARS may experience symptoms due to minor anomalies of the facial bones or due to enlarged tonsils or adenoids.
Catathrenia is a rapid eye movement sleep parasomnia consisting of end-inspiratory apnea (breath holding) and expiratory groaning during sleep. Catathrenia is distinct from both somniloquy and obstructive sleep apnea. The sound is produced during exhalation as opposed to snoring which occurs during inhalation. It is usually not noticed by the person producing the sound but can be extremely disturbing to sleep partners. Bed partners generally report hearing the person take a deep breath, hold it, then slowly exhale; often with a high-pitched squeak or groaning sound.
Catathrenia typically, sometimes even exclusively, occurs during REM sleep, although it may also occur to a lesser degree during NREM sleep. Catathrenia begins with a deep inspiration. The sufferer holds her or his breath against a closed glottis, similar to the Valsalva maneuver. After a period of time and some blood oxygen desaturation, there is an arousal, followed by expiration. Expiration can be slow and accompanied by sound caused by vibration of the vocal cords or a simple rapid exhalation with no sound.
There is debate about whether the cause is physical or neurological, a question that requires further study. While some speculate about a direct correlation to high anxiety and stress or the concept that catathrenia is purely psychological, there is only anecdotal evidence of either proposed cause.
Catathrenia has been defined as a parasomnia in the International Classification of Sleep Disorders Diagnostic and Coding Manual (ICSD-2), but there is debate about its classification.
There are a few other similaritiesamongst catathrenia sufferers that have not yet been studied properly:
- Many catathrenia sufferers mention that they also suffer from some form of stress or anxiety in their lives.
- Sufferers themselves do not feel like they are experiencing a sleep apnea; the breath-holding appears to be controlled though the unconscious. Oxygen desaturation during a catathrenia episode is usually negligible.
- Many took part in sports activities during teens and twenties some which required breath-holding which included many types of sports such as swimming and even weight lifting. They find a certain level of comfort in breath-holding, and often do it while awake.
- Observations have been made of instances of breath holding during daily activities that require concentration.
- Some sufferers recalled suffering from lucid or stress dreams during their catathrenia episodes during their sleep.
- Some sufferers complain of having a painful chest upon waking from sleep.
Because catathrenia itself is not considered life-threatening, there has been very little research done in the medical community, and many experts assume that the way to treat catathrenia is to treat the underlying sleep apnea, though there is no conclusive evidence published that catathrenia results from sleep apnea, and sleep studies show that not all sufferers of catathrenia have been diagnosed with sleep apnea.
While doctors tend to dismiss it as an inconvenience, sufferers routinely describe the condition's highly negative effects on their daily lives including tiredness, low energy, dizziness and vertigo, work problems, relationship and social issues, and other physical and mental problems that could be associated with low sleep quality.