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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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In medicine and medical anthropology, a culture-bound syndrome, culture-specific syndrome, or folk illness is a combination of psychiatric and somatic symptoms that are considered to be a recognizable disease only within a specific society or culture. There are no objective biochemical or structural alterations of body organs or functions, and the disease is not recognized in other cultures. The term "culture-bound syndrome" was included in the fourth version of the "Diagnostic and Statistical Manual of Mental Disorders" (American Psychiatric Association, 1994) which also includes a list of the most common culture-bound conditions (DSM-IV: Appendix I). Counterpart within the framework of ICD-10 () are the "culture-specific disorders" defined in Annex 2 of the "Diagnostic criteria for research".
More broadly, an epidemic that can be attributed to cultural behavior patterns or suggestion is sometimes referred to as a behavioral epidemic. As in the cases of drug or alcohol abuse or smoking, transmission can be determined by communal reinforcement as well as by person-to-person interactions. On etiological grounds, it can be difficult to distinguish the causal contribution of culture in disease from other environmental factors such as toxicity.
A culture-specific syndrome is characterized by:
1. categorization as a disease in the culture (i.e., not a voluntary behaviour or false claim);
2. widespread familiarity in the culture;
3. complete lack of familiarity or misunderstanding of the condition to people in other cultures;
4. no objectively demonstrable biochemical or tissue abnormalities (signs);
5. the condition is usually recognized and treated by the folk medicine of the culture.
Some culture-specific syndromes involve somatic symptoms (pain or disturbed function of a body part), while others are purely behavioral. Some culture-bound syndromes appear with similar features in several cultures, but with locally specific traits, such as penis panics.
A culture-specific syndrome is not the same as a geographically localized disease with specific, identifiable, causal tissue abnormalities, such as kuru or sleeping sickness, or genetic conditions limited to certain populations. It is possible that a condition originally assumed to be a culture-bound behavioral syndrome is found to have a biological cause; from a medical perspective it would then be redefined into another nosological category.
Behaviors that are apparent in those with internalizing disorders include depression, withdrawal, anxiety, and loneliness. There are also behavioral characteristics involved with internalizing disorders. Some behavioral abnormalities include poor self-esteem, suicidal behaviors, decreased academic progress, and social withdrawal. Internalizing one's problems, like sadness, can cause the problems to grow into larger burdens such as social withdrawal, suicidal behaviors or thoughts, and other unexplained physical symptoms.
The internalizing disorders, with high levels of negative affectivity, include depressive disorders, anxiety disorders, obsessive-compulsive and related disorders, trauma and stressor-related disorders, and dissociative disorders. Others like bulimia, and anorexia also come under this category.
It is common for individuals with PDD-NOS to have more intact social skills and a lower level of intellectual deficit than individuals with other PDDs. Characteristics of many individuals with PDD-NOS are:
- Communication difficulties (e.g., using and understanding language)
- Difficulty with social behavior
- Difficulty with changes in routines or environments
- Uneven skill development (strengths in some areas and delays in others)
- Unusual play with toys and other objects
- Repetitive body movements or behavior patterns
- Preoccupation with fantasy, such as imaginary friends in childhood
Some individuals may exhibit hyperreligiosity, characterized by increased, usually intense, religious feelings and philosophical interests, and partial (temporal lobe) epilepsy patients with frequent numinous-like auras have greater ictal and interictal spirituality. Some auras include ecstatic experiences. It has been reported that many religious leaders exhibit this form of epilepsy. These religious feelings can motivate beliefs within any religion, including Voodoo, Christianity, Islam, and others. Furthermore, in Geschwind syndrome, "in someone from a strongly religious background hyperreligiosity might appear as deeply felt atheism". There are reports of patients converting between religions. A few patients internalize their religious feelings: when asked if they are religious they say they are not. One reviewer concluded that the evidence for a link between temporal lobe epilepsy and hyperreligiosity "isn't terribly compelling".
Studies suggest that persons with PDD-NOS belong to one of three very different subgroups:
- A high-functioning group (around 25 percent) whose symptoms largely overlap with that of Asperger syndrome, but who differ in terms of having a lag in language development and/or mild cognitive impairment. (The criteria for Asperger syndrome excludes a speech delay or a cognitive impairment.)
- A group (around 25 percent) whose symptoms more closely resemble those of autism spectrum disorder, but do not fully meet all its diagnostic signs and symptoms.
- The biggest group (around 50 percent) consists of those who meet all the diagnostic criteria for autism spectrum disorder, but whose stereotypical and repetitive behaviors are noticeably mild.
Individuals that demonstrate circumstantiality (or "viscosity") tend to continue conversations for a long time and talk receptively.
Symptoms of PDD may include behavioral and communication problems such as:
- Difficulty using and understanding language.
- Difficulty relating to people, objects, and events; for example, lack of eye contact, pointing behavior, and lack of facial responses.
- Unusual play with toys and other objects.
- Difficulty with changes in routine or familiar surroundings.
- Repetitive body movements or behavior patterns, such as hand flapping, hair twirling, foot tapping, or more complex movements.
- Inability to cuddle or be comforted.
- Difficulty regulating behaviors and emotions, which may result in temper tantrums, anxiety, and aggression.
- Emotional breakdowns.
Children with PDD vary widely in abilities, intelligence, and behaviors. Some children do not speak at all, others speak in limited phrases or conversations, and some have relatively normal language development. Repetitive play skills and limited social skills are generally evident as well. Unusual responses to sensory information – loud noises, lights – they also are common.
The term dysphrenia was coined by the German medical specialist Karl Kahlbaum to designate a clinical picture in 19th-century psychiatry. Today the concept is still used in the western world as a lay generic synonym for mental disorder in adults, and as a term to describe different cognitive/verbal/behavioral deficits in children and adolescents. It is also used in the People's Republic of China, controversially, to identify a local medical diagnostic category. A number of followers of the Falun Gong cult and other social movements considered insurrectionary by the regime are said to have been diagnosed with dysphrenia.
The medical expression tardive dysphrenia was first proposed by the American neurologist Stanley Fahn and collaborators in the 1970s. It was originally linked to a unique and rare non-motor behavioral/mental neuroleptic drug-induced tardive syndrome observed in psychiatric patients—schizophrenia in particular—who had been treated with typical antipsychotics.
Tardive dysphrenia was conceived to precede tardive dyskinesia and the other already-known neuroleptic-induced tardive syndromes (tardive dystonia, tardive akathisia). More recently, the Brazilian psychiatrist Leopoldo Hugo Frota extended Fahn's original construct to encompass the independently described but etiologically related concepts of rebound psychosis, supersensitivity psychosis (Guy Chouinard), and schizophrenia pseudo-refractoriness (Heinz Lehmann & Thomas Ban) or secondary acquired refractoriness.
Cognitive symptoms from steroids appear within the first few weeks of treatment, appear to be dose dependent, and may or may not be accompanied by steroid psychosis or other Cushing's-type symptoms.
The symptoms include deficits in
- verbal and non-verbal memory
- working memory
- attention
- sustained concentration
- executive function
- psychomotor speed
- academic or occupational performance.
These symptoms have been shown to improve within months to a year after discontinuing glucocorticoid medication, but residual impairments following prolonged steroid use can remain.
Attention deficit hyperactivity disorder (ADHD) is found in the majority of males with FXS and 30% of females, making it the most common psychiatric diagnosis in those with FXS. Hyperactivity and disruptive behavior peak in the preschool years and then gradually decline with age, although inattentive symptoms are generally lifelong.
Aside from the characteristic social phobia features, a range of other anxiety symptoms are very commonly associated with FXS, with symptoms typically spanning a number of psychiatric diagnoses but not fulfilling any of the criteria in full. Behaviors such as hand flapping and biting, as well as aggression, can be an expression of anxiety. Although only a minority will meet the criteria for obsessive–compulsive disorder (OCD), a significant majority will feature obsessive-type symptoms. However, as individuals with FXS generally find these behaviors pleasurable, unlike individuals with OCD, they are more frequently referred to as stereotypic behaviors.
Mood symptoms in individuals with FXS rarely meet diagnostic criteria for a major mood disorder as they are typically not of sustained duration. Instead, these are usually transient and related to stressors, and may involve labile (fluctuating) mood, irritability, self-injury and aggression.
Individuals with fragile X-associated tremor/ataxia syndrome (FXTAS) are likely to experience combinations of dementia, mood, and anxiety disorders. Males with the "FMR1" premutation and clinical evidence of FXTAS were found to have increased occurrence of somatization, obsessive–compulsive disorder, interpersonal sensitivity, depression, phobic anxiety, and psychoticism.
Functional somatic syndrome is a term used to refer to physical symptoms that are poorly explained. It encompass disorders such as chronic fatigue syndrome, fibromyalgia, chronic widespread pain, temporomandibular disorder, irritable bowel syndrome, lower back pain, tension headache, atypical face pain, non-cardiac chest pain, insomnia, palpitation, dyspepsia, and dizziness. General overlap exists between this term, somatization, and somatoform.
Functional somatic syndrome is characterized by ambiguous, non-specific symptoms that appear in otherwise-healthy populations. Overlap exists in different syndromes, including gastrointestinal issues, pain, fatigue, cognitive difficulties, and sleep difficulties. Some have proposed to group symptoms into clusters or into one general functional somatic disorder given the finding of correlations between symptoms and underlying etiologies.
Children with fragile X have very short attention spans, are hyperactive, and show hypersensitivity to visual, auditory, tactile, and olfactory stimuli. These children have difficulty in large crowds due to the loud noises and this can lead to tantrums due to hyperarousal. Children with FXS pull away from light touch and can find textures of materials to be irritating. Transitions from one location to another can be difficult for children with FXS. Behavioral therapy can be used to decrease the child’s sensitivity in some cases.
Perseveration is a common communicative and behavioral characteristic in FXS. Children with FXS may repeat a certain ordinary activity over and over. In speech, the trend is not only in repeating the same phrase but also talking about the same subject continually. Cluttered speech and self-talk are commonly seen. Self-talk includes talking with oneself using different tones and pitches.
Individuals with Asperger syndrome may have signs or symptoms that are independent of the diagnosis, but can affect the individual or the family. These include differences in perception and problems with motor skills, sleep, and emotions.
Individuals with AS often have excellent auditory and visual perception. Children with ASD often demonstrate enhanced perception of small changes in patterns such as arrangements of objects or well-known images; typically this is domain-specific and involves processing of fine-grained features. Conversely, compared with individuals with high-functioning autism, individuals with AS have deficits in some tasks involving visual-spatial perception, auditory perception, or visual memory. Many accounts of individuals with AS and ASD report other unusual sensory and perceptual skills and experiences. They may be unusually sensitive or insensitive to sound, light, and other stimuli; these sensory responses are found in other developmental disorders and are not specific to AS or to ASD. There is little support for increased fight-or-flight response or failure of habituation in autism; there is more evidence of decreased responsiveness to sensory stimuli, although several studies show no differences.
Hans Asperger's initial accounts and other diagnostic schemes include descriptions of physical clumsiness. Children with AS may be delayed in acquiring skills requiring motor dexterity, such as riding a bicycle or opening a jar, and may seem to move awkwardly or feel "uncomfortable in their own skin". They may be poorly coordinated, or have an odd or bouncy gait or posture, poor handwriting, or problems with visual-motor integration. They may show problems with proprioception (sensation of body position) on measures of developmental coordination disorder (motor planning disorder), balance, tandem gait, and finger-thumb apposition. There is no evidence that these motor skills problems differentiate AS from other high-functioning ASDs.
Children with AS are more likely to have sleep problems, including difficulty in falling asleep, frequent nocturnal awakenings, and early morning awakenings. AS is also associated with high levels of alexithymia, which is difficulty in identifying and describing one's emotions. Although AS, lower sleep quality, and alexithymia are associated, their causal relationship is unclear.
Steroid dementia syndrome describes the signs and symptoms of hippocampal and prefrontal cortical dysfunction, such as deficits in memory, attention, and executive function, induced by glucocorticoids. Dementia-like symptoms have been found in some individuals who have been exposed to glucocorticoid medication, often dispensed in the form of asthma, arthritis, and anti-inflammatory steroid medications. The condition reverses, but not always completely, within months after steroid treatment is stopped.
The term "steroid dementia" was coined by Varney et al. (1984) in reference to the effects of long-term glucocorticoid use in 1,500 patients. While the condition generally falls under the classification of Cushing's syndrome, the term "steroid dementia syndrome" is particularly useful because it recognizes both the cause of the syndrome and the specific effects of glucocorticoids on cognitive function. Further, the more precise terminology clearly distinguishes the condition from full-blown Cushing's syndrome, which is extremely broad regarding the causes (endogenous or exogenous, pituitary or adrenal) and the multitude of symptoms (ranging from skin disorders to osteoporosis), and from hypercortisolemia, which identifies neither the source nor the symptoms of excess circulatory cortisol.
As a pervasive developmental disorder, Asperger syndrome is distinguished by a pattern of symptoms rather than a single symptom. It is characterized by qualitative impairment in social interaction, by stereotyped and restricted patterns of behavior, activities and interests, and by no clinically significant delay in cognitive development or general delay in language. Intense preoccupation with a narrow subject, one-sided verbosity, restricted prosody, and physical clumsiness are typical of the condition, but are not required for diagnosis. Suicidal behavior appears to occur at rates similar to those without ASD.
Symptoms are not limited to but may include:
- Increased general confusion as natural light begins to fade and increased shadows appear.
- Agitation and mood swings. Individuals may become fairly frustrated with their own confusion as well as aggravated by noise. Individuals found yelling and becoming increasingly upset with their caregiver is not uncommon.
- Mental and physical fatigue increase with the setting of the sun. This fatigue can play a role in the individual's irritability.
- Tremors may increase and become uncontrollable.
- An individual may experience an increase in their restlessness while trying to sleep. Restlessness can often lead to pacing and or wandering which can be potentially harmful for an individual in a confused state.
Facial features of children with Smith–Magenis syndrome include a broad face, deep-set eyes, large cheeks, and a prominent jaw, as well as a flat nose bridge. The mouth curves downwards and the upper lip curves outwards. These facial features become more noticeable as the individual ages.
Disrupted sleep patterns are characteristic of Smith–Magenis syndrome, typically beginning early in life. Affected people may be very sleepy during the day, but have trouble falling asleep and awaken several times each night, due to an inverted circadian rhythm of melatonin.
People with Smith–Magenis syndrome have engaging personalities, but all also have a lot of behavioral problems. These behavioral problems include frequent temper tantrums, meltdowns and outbursts, aggression, anger, fidgeting, compulsive behavior, anxiety, impulsiveness, and difficulty paying attention. Self-harm, including biting, hitting, head banging, and skin picking, is very common. Repetitive self-hugging is a behavioral trait that may be unique to Smith–Magenis syndrome. People with this condition may also compulsively lick their fingers and flip pages of books and magazines (a behavior known as "lick and flip"), as well as possessing an impressive ability to recall a wide range of small details about people or subject-specific trivia.
Other symptoms can include short stature, abnormal curvature of the spine (scoliosis), reduced sensitivity to pain and temperature, and a hoarse voice. Some people with this disorder have ear abnormalities that lead to hearing loss. Affected individuals may have eye abnormalities that cause nearsightedness (myopia), strabismus, and other problems with vision. Heart and kidney defects also have been reported in people with Smith–Magenis syndrome, though they are less common.
The winter-over syndrome is a condition found in individuals who "winter-over" throughout the Antarctic (or Arctic) winter. It has been observed in inhabitants of research stations in Antarctica, as well as in polar bases such as Thule, Alert and Eureka. It consists of a variety of behavioral and medical disturbances, including irritability, depression, insomnia, absentmindedness, aggressive behavior, and irritable bowel syndrome.
Possible contributing causes of winter-over syndrome include stress, social isolation, subsyndromal seasonal affective disorder and polar T syndrome.
The earliest observable symptoms of Williams syndrome include low birth weight, failure to thrive, trouble breastfeeding, nocturnal irritability and gastroesophageal reflux. Facial dysmorphies thought to be characteristic of the syndrome are also present early in development, as is heart murmur. Research on the development of the syndrome suggest that congenital heart disease is typically present at an early age, often at the infant's first pediatric appointment. Heart problems in infancy often lead to the initial diagnosis of Williams syndrome.
Developmental delays are present in most cases of Williams syndrome, and include delay of language abilities and delayed motor skill development. Individuals with Williams syndrome develop language abilities quite late relative to other children, with the child's first word often occurring as late as three years of age. Language abilities are often observed to be deficient until adolescence, in terms of semantics, morphology, and phonology, though not in vocabulary.
Williams syndrome is also marked by a delay in development of motor skills. Infants with Williams develop the ability to lift their heads and sit without support months later than typically developing children. These delays continue into childhood, where patients with Williams syndrome are delayed in learning to walk. In young children, the observed motor delay is around five to six months, though some research suggests that children with Williams syndrome have a delay in development that becomes more extreme with age. Children with motor delays as a result of Williams syndrome are particularly behind in development of coordination, fine motor skills such as writing and drawing, response time, and strength and dexterity of the arms. Impaired motor ability persists (and possibly worsens) as children with Williams syndrome reach adolescence.
Adults and adolescents with Williams syndrome typically achieve a below-average height and weight, compared with non-affected populations. As individuals with Williams syndrome age, they frequently develop joint limitations and hypertonia, or abnormally increased muscle tone. Hypertension, gastrointestinal problems, and genitourinary symptoms often persist into adulthood, as well as cardiovascular problems. Adults with Williams syndrome are typically limited in their ability to live independently or work in competitive employment settings, but this developmental impairment is attributed more to psychological symptoms than physiological problems.
Smith–Magenis Syndrome (SMS) is a genetic disorder with features including intellectual disability, facial abnormalities, difficulty sleeping, and numerous behavioral problems such as self-harm. Smith–Magenis syndrome affects an estimated between 1 in 15,000 to 1 in 25,000 individuals.
It is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17 and is sometimes called the 17p- syndrome.
The inability to control the urge to pick is similar to the urge to compulsively pull one's own hair, i.e., trichotillomania. Researchers have noted the following similarities between trichotillomania and excoriation disorder: the symptoms are ritualistic but there are no preceding obsessions; there are similar triggers for the compulsive actions; both conditions appear to play a role in modifying the arousal level of the subject; and the age of onset for both conditions is similar. There is also a high level of comorbidity between those that have trichotillomania and those that have excoriation disorder. A notable difference between these conditions is that skin picking seems to be dominated by females whereas trichotillomania is more evenly distributed across genders.
Research has also suggested that excoriation disorder may be thought of as a type of obsessive compulsive disorder (OCD). Excoriation disorder and OCD are similar in that they both involve "repetitive engagement in behaviors with diminished control" and also both generally decrease anxiety.
Nevertheless, Odlaug and Grant have suggested that excoriation disorder is more akin to substance abuse disorder than OCD. They argue that excoriation disorder differs from OCD in the following fundamental ways: (1) there is a much greater share of females with excoriation disorder; (2) excoriation disorder may be inherently pleasurable whereas OCD is not; (3) the treatments that are generally effective for patients with OCD (i. e., SSRIs and exposure therapy) are not as successful in patients with excoriation disorder; and (4) unlike OCD, picking the skin is rarely driven by obsessive thoughts. Odlaug and Grant have recognized the following similarities between individuals with dermatillomania and patients with addictions: (1) a compulsion to engage in the negative behavior despite knowledge of the harm; (2) a lack of control over the problematic behavior; (3) a strong urge to engage in the behavior prior to engagement; and (4) a feeling of pleasure while engaging in the behavior or a feeling of relief or reduced anxiety after engaging in the behavior. One study that supported the addiction theory of picking found that 79% of patients with excoriation disorder reported a pleasurable feeling when picking.
Odlaug and Grant also argue that dermatillomania could have several different psychological causes, which would explain why some patients seem more likely to have symptoms of OCD, and others, of an addiction. They suggest that treating certain cases of excoriation as an addiction may yield more success than treating them as a form of OCD.