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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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Disorders considered in origin include:
1. Intellectual disability (ID) or intellectual and developmental disability (IDD), previously called mental retardation
2. Autism spectrum disorders, such as Asperger's syndrome or Kanner syndrome
3. Motor disorders including developmental coordination disorder and stereotypic movement disorder Tic disorders including Tourette's syndrome
4. Traumatic brain injury (including congenital injuries such as those that cause cerebral palsy)
5. Communication, speech and language disorders
6. genetic disorders, such as fragile-X syndrome, Down syndrome, attention deficit hyperactivity disorder, schizophrenia, schizotypal disorder, hypogonadotropic hypogonadal syndromes
7. disorders due to neurotoxicants like fetal alcohol spectrum disorder, Minamata disease caused by mercury, behavioral disorders including conduct disorder etc caused by other heavy metals, such as lead, chromium, platinum etc, hydrocarbons like dioxin, PBDEs and PCBs, medications and illegal drugs, like cocaine and others.
Neurodevelopmental disorders are impairments of the growth and development of the brain or central nervous system. A narrower use of the term refers to a disorder of brain function that affects emotion, learning ability, self-control and memory and that unfolds as an individual develops and grows.
The term is sometimes erroneously used as an exclusive synonym for autism spectrum disorders.
Approximately 25–30% of children with autism spectrum disorders stop speaking after beginning to say words, often before the age of two. According to Ami Klin, "Most examples of autistic regression... are based upon a child's loss of a handful of words... it's possible that these children were only echoing sounds they heard from their parents" Some children lose social development instead of language; some lose both. After the regression, the child follows the standard pattern of autistic neurological development. The term refers to the appearance that neurological development has reversed; it is actually only the affected developmental skills, rather than the neurology as a whole, that regresses. It is more usual for autistic neurological development to not include such aberrations, with age-appropriate autistic symptoms being clear from birth.
Skill loss may be quite rapid, or may be slow and preceded by a lengthy period of no skill progression; the loss may be accompanied by reduced social play or increased irritability. The temporarily acquired skills typically amount to a few words of spoken language, and may include some rudimentary social perception. There are several intermediate types of development, which do not neatly fit into either the traditional early onset or the regressive categories, including mixtures of early deficits, failures to progress, subtle diminishments, and obvious losses. If regression is defined strictly to require loss of language, it is less common; if defined more broadly, to include cases where language is preserved but social interaction is diminished, it is more common.
Signs and symptoms of ACC and other callosal disorders vary greatly among individuals. However, some characteristics common in individuals with callosal disorders include vision impairments, low muscle tone (hypotonia), poor motor coordination, delays in motor milestones such as sitting and walking, low perception of pain, delayed toilet training, and chewing and swallowing difficulties. Laboratory research has demonstrated that individuals with ACC have difficulty transferring more complex information from one hemisphere to the other. They also have been shown to have some cognitive disabilities (difficulty in complex problem solving) and social difficulties (missing subtle social cues), even when their intelligence quotient is normal. Recent research suggests that specific social difficulties may be a result of impaired face processing. The unusual social behavior in childhood is often mistaken for or misdiagnosed as Asperger syndrome or other autism spectrum disorders. Other characteristics sometimes associated with callosal disorders include seizures, spasticity, early feeding difficulties and/or gastric reflux, hearing impairments, abnormal head and facial features, and a mental handicap.
The tenth revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-10) has four categories of specific developmental disorder: specific developmental disorders of speech and language, specific developmental disorders of scholastic skills, specific developmental disorder of motor function, and mixed specific developmental disorder.
Regressive autism occurs when a child appears to develop typically but then starts to lose speech and social skills, typically between the ages of 15 and 30 months, and is subsequently diagnosed with autism. Other terms used to describe regression in children with autism are autism with regression, autistic regression, setback-type autism, and acquired autistic syndrome. There is no standard definition for regression, and the prevalence of regression varies depending on the definition used. Some children show a mixture of features, with some early delays and some later losses; and there is evidence of a continuous spectrum of behaviors, rather than a black-and-white distinction, between autism with and without regression. According to the definitions in the DSM-5 the term "regressive autism" can refer to any type of autism spectrum disorder that involves regression, including Childhood Disintegrative Disorder.
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.
In the third edition of the "Diagnostic and Statistical Manual of Mental Disorders" (DSM-III), SDD was opposed to the pervasive developmental disorders (PDD). There were two factors that were considered:
- The specificity of the impairment: in SDD there is one single domain that is affected, whereas in PDD multiple areas of functioning are affected.
- The nature of the impairment: development in SDD is delayed but not otherwise abnormal, whereas in PDD there are behavioral deviations that are not typical for any developmental stage.
In the fourth edition of the DSM specific developmental disorders are no longer grouped together. Instead they are reclassified as communication disorders, learning disorders, and motor skills disorders.
CDD is a rare condition, with only 1.7 cases per 100,000.
A child affected with childhood disintegrative disorder shows normal development and he/she acquires "normal development of age-appropriate verbal and nonverbal communication, social relationships, motor, play and self-care skills" comparable to other children of the same age. However, between the ages of 2 and 10, skills acquired are lost almost completely in at least two of the following six functional areas:
- Expressive language skills (being able to produce speech and communicate a message)
- Receptive language skills (comprehension of language - listening and understanding what is communicated)
- Social skills and self care skills
- Control over bowel and bladder
- Play skills
- Motor skills
Lack of normal function or impairment also occurs in at least two of the following three areas:
- Social interaction
- Communication
- Repetitive behavior and interest patterns
In her book, "Thinking in Pictures", Temple Grandin argues that compared to "Kanner's classic autism" and to Asperger syndrome, CDD is characterized with more severe sensory processing disorder but less severe cognitive problems. She also argues that compared to most autistic people, persons with CDD have more severe speech pathology and they usually do not respond well to stimulants.
Some syndromes that frequently include ACC are Aicardi syndrome, Andermann syndrome, Shapiro syndrome, acrocallosal syndrome, septo-optic dysplasia (optic nerve hypoplasia), Mowat–Wilson syndrome, John Sayden syndrome, Menkes syndrome, and L1CAM Syndrome. Some conditions that are sometimes associated with ACC include maternal nutritional deficiencies or infections, metabolic disorders, fetal alcohol syndrome, craniofacial abnormalities, and other oral and maxillofacial pathologies.
The low muscle tone associated with hypotonia must not be confused with low muscle strength or the definition commonly used in body building. Neurologic muscle tone is a manifestation of periodic action potentials from motor neurons. As it is an intrinsic property of the nervous system, it cannot be changed through voluntary control, exercise, or diet.
Children with normal muscle tone are expected to achieve certain physical abilities within an average timeframe after birth. Most low-tone infants have delayed developmental milestones, but the length of delay can vary widely. Motor skills are particularly susceptible to the low-tone disability. They can be divided into two areas, gross motor skills, and fine motor skills, both of which are affected. Hypotonic infants are late in lifting their heads while lying on their stomachs, rolling over, lifting themselves into a sitting position, remaining seated without falling over, balancing, crawling, and sometimes walking. Fine motor skills delays occur in grasping a toy or finger, transferring a small object from hand to hand, pointing out objects, following movement with the eyes, and self-feeding.
Speech difficulties can result from hypotonia. Low-tone children learn to speak later than their peers, even if they appear to understand a large vocabulary, or can obey simple commands. Difficulties with muscles in the mouth and jaw can inhibit proper pronunciation, and discourage experimentation with word combination and sentence-forming. Since the hypotonic condition is actually an objective manifestation of some underlying disorder, it can be difficult to determine whether speech delays are a result of poor muscle tone, or some other neurological condition, such as intellectual disability, that may be associated with the cause of hypotonia. Additionally, lower muscle tone can be caused by Mikhail-Mikhail syndrome, which is characterized by muscular atrophy and cerebellar ataxia which is due to abnormalities in the ATXN1 gene.
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
The childhood disintegrative disorder (CDD), also known as Heller's syndrome and disintegrative psychosis, is a rare condition characterized by late onset of developmental delays—or stunning reversals—in language, social function, and motor skills. Researchers have not been successful in finding a cause for the disorder. CDD has some similarity to autism, and is sometimes considered a low-functioning form of it. In May 2013, the term CDD, along with other types of autism, was fused into a single diagnostic term called "autism spectrum disorder" under the new DSM-5 manual. Therefore, CDD is now also called "regressive autism", being that this term can now refer to any type of autism spectrum disorder that involves regression, including CDD.
CDD was originally described by Austrian educator Theodor Heller (1869–1938) in 1908, 35 years before Leo Kanner and Hans Asperger described autism. Heller had previously used the name "dementia infantilis" for the syndrome.
An apparent period of fairly normal development is often noted before a regression in skills or a series of regressions in skills. The age at which this regression can occur varies, but typically after 3 years of normal development. The regression can be so dramatic that the child may be aware of it, and may in its beginning even ask, vocally, what is happening to them. Some children describe or appear to be reacting to hallucinations, but the most obvious symptom is that skills apparently attained are lost.
Many children are already somewhat delayed when the disorder becomes apparent, but these delays are not always obvious in young children. This has been described by many writers as a devastating condition, affecting both the family and the individual's future. As is the case with all pervasive developmental disorder categories, there is considerable controversy about the right treatment for CDD.
Affected children display severe psychomotor retardation, failure to thrive, seizures, and muscle spasticity or hypotonia. Other symptoms of the disorder may include unusual facial appearance, difficulty swallowing, and anomalies of the hands, fingers, or toes.
Various degrees of intensity and locations of epilepsy are associated with malformations of cortical development. Researchers suggest that approximately 40% of children diagnosed with drug-resistant epilepsy have some degree of cortical malformation.
Lissencephaly (to which pachygyria is most closely linked) is associated with severe mental retardation, epilepsy, and motor disability. Two characteristics of lissencephaly include its absence of convolutions (agyria) and decreased presence of convolutions (pachygyria). The types of seizures associated with lissencephaly include:
- persisting spasms
- focal seizures
- tonic seizures
- atypical seizures
- atonic seizures
Other possible symptoms of lissencephaly include telecanthus, estropia, hypertelorism, varying levels of mental retardation, cerebellar hypoplasia, corpus callosum aplasia, and decreased muscle tone and tendon reflexes. Over 90% of children affected with lissencephaly have seizures.
Patients with subcortical band heterotopia (another disorder associated with pachygyria) typically have milder symptoms and their cognitive function is closely linked to the thickness of the subcortical band and the degree of pachygyria present.
A pervasive developmental disorder not otherwise specified (PDD-NOS) is one of the four autism spectrum disorders (ASD) and also one of the five disorders classified as a pervasive developmental disorder (PDD). According to the DSM-IV, PDD-NOS is a diagnosis that is used for "severe and pervasive impairment in the development of reciprocal social interaction or verbal and nonverbal communication skills, or when stereotyped behavior, interests, and activities are present, but the criteria are not met for a specific PDD" or for several other disorders. PDD-NOS is often called atypical autism, because the criteria for autistic disorder are not met, for instance because of late age of onset, atypical symptomatology, or subthreshold symptomatology, or all of these. Even though PDD-NOS is considered milder than typical autism, this is not always true. While some characteristics may be milder, others may be more severe.
Language delay is a failure in children to develop language abilities on the usual age appropriate for their developmental timetable. Language delay is distinct from speech delay, in which the development of the mechanical and motor aspects of speech production is delayed.
Oral communication is a two-stage process. The first stage is to encode the message into a set of words and sentence structures that convey the required meaning, i.e. into language. In the second stage, language is translated into motor commands that control the articulators (organs and structures such as the lungs, vocal cords, mouth, tongue, teeth, etc.), thereby creating speech, i.e. orally-expressed language.
Because language and speech are independent, they may be individually delayed. For example, a child may be delayed in speech
(i.e., unable to produce intelligible speech sounds), but not delayed in language. However a child with a language delay typically has not yet been able to use language to formulate material to speak; he or she is therefore likely to have a delay in speech as well.
Language delay is commonly divided into "receptive" and "expressive" categories. Receptive language refers to the process of understanding what is said to the subject. Expressive language refers to the use of words and sentences to communicate messages to others. Both categories are essential to effective communication.
Nonverbal autism is a subset of autism where the subject is unable to speak. While most autistic children eventually begin to speak, there is a significant minority who will remain nonverbal.
Under the DSM-5, autism is characterized by persistent deficits in social communication and interaction across multiple contexts, as well as restricted, repetitive patterns of behavior, interests, or activities. These deficits are present in early childhood, and lead to clinically significant functional impairment. There is also a unique form of autism called autistic savantism, where a child can display outstanding skills in music, art, and numbers with no practice. Because of its relevance to different populations, self-injurious behaviors (SIB) are not considered a core characteristic of the ASD population however approximately 50% of those with ASD take part in some type of SIB (head-banging, self-biting) and are more at risk than other groups with developmental disabilities.
Other characteristics of ASD include Restricted and Repetitive Behaviors (RRBs) which include a large range of specific gestures and acts, it can even include certain behavioral traits as defined in the Diagnostic and Statistic Manual for Mental Disorders.
Asperger syndrome was distinguished from autism in the DSM-IV by the lack of delay or deviance in early language development. Additionally, individuals diagnosed with Asperger syndrome did not have significant cognitive delays. PDD-NOS was considered "subthreshold autism" and "atypical autism" because it was often characterized by milder symptoms of autism or symptoms in only one domain (such as social difficulties).
The DSM-5 eliminated the four separate diagnoses: Asperger Syndrome, Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS), Childhood Degenerative Disorder, and Autistic Disorder and combined them under the diagnosis of Autism Spectrum Disorder.
Overactive disorder associated with mental retardation and stereotyped movements is a pervasive developmental disorder (PDD) listed in Chapter V(F) of the tenth revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-10); its diagnostic code is F84.4.
Language delays are the most frequent developmental delays, and can occur for many reasons. A delay can be due to being a “late bloomer,” or a more serious problem. The most common causes of speech delay include
- Hearing loss
- Slow development
- Intellectual Disability
Such delays can occur in conjunction with a lack of mirroring of facial responses, unresponsiveness or unawareness of certain noises, a lack of interest in playing with other children or toys, or no pain response to stimuli.
Other causes include:
- Psychosocial deprivation - The child doesn't spend enough time talking with adults. Research on early brain development shows that babies and toddlers have a critical need for direct interactions with parents and other significant care givers for healthy brain growth and the development of appropriate social, emotional, and cognitive skills.
- Television viewing is associated with delayed language development. Children who watched television alone were 8.47 times more likely to have language delay when compared to children who interacted with their caregivers during television viewing. As recommended by the American Academy of Pediatrics (AAP), children under the age of 2 should watch no television at all, and after age 2 watch no more than one to two hours of quality programming a day. Therefore, exposing such young children to television programs should be discouraged. Parents should engage children in more conversational activities to avoid television-related delays to their children language development, which could impair their intellectual performance.
- Stress during pregnancy is associated with language delay.
- Being a twin
- Attention deficit hyperactivity disorder
- Autism (a developmental disorder) - There is strong evidence that autism is commonly associated with language delay. Asperger syndrome, which is on the autistic spectrum, however, is not associated with language delay.
- Selective mutism (the child just doesn't want to talk)
- Cerebral palsy (a movement disorder caused by brain damage)
- Genetic abnormalities - In 2005, researchers found a connection between expressive language delay and a genetic abnormality: a duplicate set of the same genes that are missing in sufferers of Williams-Beuren syndrome. Also so called XYY syndrome can often cause speech delay.
- Correlation with male sex, previous family history, and maternal education has been demonstrated.
It is estimated that 25 to 50% of children diagnosed with Autism Spectrum Disorder (ASD) never develop spoken language beyond a few words or utterances. Despite the growing field of research on ASD, there is not much information available pertaining to individuals with autism who never develop functional language; that, in fact, individuals with nonverbal autism are considered to be underrepresented in all of autism research. Because of the limited research on nonverbal autism, there are not many validated measurements appropriate for this population. For example, while they may be appropriate for younger children, they lack the validity for grade-school aged children and adolescents and have continued to be a roadblock for nonverbal autism research. Often in autism research, individuals with nonverbal autism are sub-grouped with LFA, categorized by learning at most one word or having minimal verbal language.
Most of the existing body of research in nonverbal autism focuses on early interventions that predict successful language outcomes. Research suggests that most spoken language is inherited before the age of five, and the likelihood of acquiring functional language in the future past this age is minimal, that early language development is crucial to educational achievement, employment, independence during adulthood, and social relationships.
Autism spectrum disorders are thought to follow two possible developmental courses, although most parents report that symptom onset occurred within the first year of life. One course of development is more gradual in nature, in which parents report concerns in development over the first two years of life and diagnosis is made around 3–4 years of age. Some of the early signs of ASDs in this course include decreased looking at faces, failure to turn when name is called, failure to show interests by showing or pointing, and delayed pretend play.
A second course of development is characterized by normal or near-normal development followed by loss of skills or regression in the first 2–3 years. Regression may occur in a variety of domains, including communication, social, cognitive, and self-help skills; however, the most common regression is loss of language.
There continues to be a debate over the differential outcomes based on these two developmental courses. Some studies suggest that regression is associated with poorer outcomes and others report no differences between those with early gradual onset and those who experience a regression period. While there is conflicting evidence surrounding language outcomes in ASD, some studies have shown that cognitive and language abilities at age may help predict language proficiency and production after age 5. Overall, the literature stresses the importance of early intervention in achieving positive longitudinal outcomes.