Made by DATEXIS (Data Science and Text-based Information Systems) at Beuth University of Applied Sciences Berlin
Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
Funded by The Federal Ministry for Economic Affairs and Energy; Grant: 01MD19013D, Smart-MD Project, Digital Technologies
Intellectual disability (ID) begins during childhood and involves deficits in mental abilities, social skills, and core activities of daily living (ADLs) when compared to same-aged peers. There often are no physical signs of mild forms of ID, although there may be characteristic physical traits when it is associated with a genetic disorder (e.g., Down syndrome).
The level of impairment ranges in severity for each person. Some of the early signs can include:
- Delays in reaching or failure to achieve milestones in motor skills development (sitting, crawling, walking)
- Slowness learning to talk or continued difficulties with speech and language skills after starting to talk
- Difficulty with self-help and self-care skills (e.g., getting dressed, washing, and feeding themselves)
- Poor planning or problem solving abilities
- Behavioral and social problems
- Failure to grow intellectually or continued infant-like behavior
- Problems keeping up in school
- Failure to adapt or adjust to new situations
- Difficulty understanding and following social rules
In early childhood, mild ID (IQ 50–69) may not be obvious or identified until children begin school. Even when poor academic performance is recognized, it may take expert assessment to distinguish mild intellectual disability from specific learning disability or emotional/behavioral disorders. People with mild ID are capable of learning reading and mathematics skills to approximately the level of a typical child aged nine to twelve. They can learn self-care and practical skills, such as cooking or using the local mass transit system. As individuals with intellectual disability reach adulthood, many learn to live independently and maintain gainful employment.
Moderate ID (IQ 35–49) is nearly always apparent within the first years of life. Speech delays are particularly common signs of moderate ID. People with moderate intellectual disability need considerable supports in school, at home, and in the community in order to fully participate. While their academic potential is limited, they can learn simple health and safety skills and to participate in simple activities. As adults, they may live with their parents, in a supportive group home, or even semi-independently with significant supportive services to help them, for example, manage their finances. As adults, they may work in a sheltered workshop.
People with severe or profound ID need more intensive support and supervision their entire lives. They may learn some ADLs, but an intellectual disability is considered severe or profound when individuals are unable to independently care for themselves without ongoing significant assistance from a caregiver throughout adulthood. Individuals with profound ID are completely dependent on others for all ADLs and to maintain their physical health and safety, although they may be able to learn to participate in some of these activities to limited degree.
There are a variety of medical conditions affecting cognitive ability. This is a broad concept encompassing various intellectual or cognitive deficits, including intellectual disability, deficits too mild to properly qualify as intellectual disability, various specific conditions (such as specific learning disability), and problems acquired later in life through acquired brain injuries or neurodegenerative diseases like dementia. These disabilities may appear at any age.
Intellectual disability (ID), also known as general learning disability, and mental retardation (MR), is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning. It is defined by an IQ score under 70 in addition to deficits in two or more adaptive behaviors that affect everyday, general living.
Once focused almost entirely on cognition, the definition now includes both a component relating to mental functioning and one relating to individuals' functional skills in their environments. As a result of this focus on the person's abilities in practice, a person with an unusually low IQ may not be considered to have intellectually disability.
Intellectual disability is subdivided into syndromic intellectual disability, in which intellectual deficits associated with other medical and behavioral signs and symptoms are present, and non-syndromic intellectual disability, in which intellectual deficits appear without other abnormalities. Down syndrome and fragile X syndrome are examples of syndromic intellectual disabilities.
Intellectual disability affects about 2–3% of the general population. Seventy-five to ninety percent of the affected people have mild intellectual disability. Non-syndromic or idiopathic cases account for 30–50% of cases. About a quarter of cases are caused by a genetic disorder, and about 5% of cases are inherited from a person's parents. Cases of unknown cause affect about 95 million people as of 2013.
Intellectual disability, also known as "general learning disability", and previously known as "mental retardation" (a term now widely considered to be offensive), is a generalized disorder characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors that appears before adulthood. It has historically been defined as an Intelligence Quotient (IQ) score under 70, but the definition now includes both one component relating to mental functioning and one relating to individuals' functional skills in their environment, so IQ is not the only factor.
Intellectual disability must have appeared in the developmental period, not only as an adult. By contrast, people with cognitive impairment have, or previously had, normal IQ, but now show confusion, forgetfulness and difficulty concentrating; cognitive impairment is typical of brain injuries, side effects from medications, and dementia. Many of these disabilities have an effect on memory, which refers to the ability to recall what has been learned over time. Typically memory is moved from sensory memory to working memory then finally into long term memory. People with cognitive disabilities typically will have have trouble with one of these types of memory.
Individuals with PLI have particular trouble understanding the meaning of what others are saying, and they are challenged in using language appropriately to get their needs met and interact with others. Children with the disorder often exhibit:
- delayed language development
- aphasic speech (such as word search pauses, jargoning, word order errors, word category errors, verb tense errors)
- Stuttering or cluttering speech
- Repeating words or phrases
- difficulty with pronouns or pronoun reversal
- difficulty understanding questions
- difficulty understanding choices and making decisions.
- difficulty following conversations or stories. Conversations are "off-topic" or "one-sided".
- difficulty extracting the key points from a conversation or story; they tend to get lost in the details
- difficulty with verb tenses
- difficulty explaining or describing an event
- tendency to be concrete or prefer facts to stories
- difficulty understanding satire or jokes
- difficulty understanding contextual cues
- difficulty in reading comprehension
- difficulty with reading body language
- difficulty in making and maintaining friendships and relationships because of delayed language development.
- difficulty in distinguishing offensive remarks
- difficulty with organizational skills
Dyslexia is a learning disability that manifests itself as a difficulty with word decoding and/or reading fluency. Comprehension may be affected as a result of difficulties with decoding, but is not a primary feature of dyslexia. It is separate and distinct from reading difficulties resulting from other causes, such as a non-neurological deficiency with vision or hearing, or from poor or inadequate reading instruction. It is estimated that dyslexia affects between 5–17% of the population. Dyslexia has been proposed to have three cognitive subtypes (auditory, visual and attentional), although individual cases of dyslexia are better explained by the underlying neuropsychological deficits and co-occurring learning disabilities (e.g. attention-deficit/hyperactivity disorder, math disability, etc.). Although not an intellectual disability, it is considered both a learning disability and a reading disability.
Dyslexia and IQ are not interrelated, since reading and cognition develop independently in individuals who have dyslexia."Nerve problems can cause damage to the control of eye muscles which can also cause diplopia" (WEBMD, 2005)
Learning disability is a classification that includes several areas of functioning in which a person has difficulty learning in a typical manner, usually caused by an unknown factor or factors. Given the "difficulty learning in a typical manner", this does not exclude the ability to learn in a different manner. Therefore, some people can be more accurately described as having a "Learning Difference", thus avoiding any misconception of being disabled with a lack of ability to learn and possible negative stereotyping.
In the UK, the term "learning disability" generally refers to an intellectual disability, while difficulties such as dyslexia and dyspraxia are usually referred to as "learning difficulties".
While "learning disability, learning disorder" and "learning difficulty" are often used interchangeably, they differ in many ways. Disorder refers to significant learning problems in an academic area. These problems, however, are not enough to warrant an official diagnosis. Learning disability, on the other hand, is an official clinical diagnosis, whereby the individual meets certain criteria, as determined by a professional (psychologist, pediatrician, etc.). The difference is in degree, frequency, and intensity of reported symptoms and problems, and thus the two should not be confused. When the term "learning disorder" is used, it describes a group of disorders characterized by inadequate development of specific academic, language, and speech skills. Types of learning disorders include reading (dyslexia), mathematics (dyscalculia) and writing (dysgraphia).
The unknown factor is the disorder that affects the brain's ability to receive and process information. This disorder can make it problematic for a person to learn as quickly or in the same way as someone who is not affected by a learning disability. People with a learning disability have trouble performing specific types of skills or completing tasks if left to figure things out by themselves or if taught in conventional ways.
Individuals with learning disabilities can face unique challenges that are often pervasive throughout the lifespan. Depending on the type and severity of the disability, interventions, and current technologies may be used to help the individual learn strategies that will foster future success. Some interventions can be quite simplistic, while others are intricate and complex. Current technologies may require student training to be effective classroom supports. Teachers, parents, and schools can create plans together that tailor intervention and accommodations to aid the individuals in successfully becoming independent learners. School psychologists and other qualified professionals quite often help design the intervention and coordinate the execution of the intervention with teachers and parents.
Borderline intellectual functioning, also called borderline mental disability, is a categorization of intelligence wherein a person has below average cognitive ability (generally an IQ of 70–85), but the deficit is not as severe as intellectual disability (below 70). It is sometimes called below average IQ (BAIQ). This is technically a cognitive impairment; however, this group may not be sufficiently mentally disabled to be eligible for specialized services. The DSM-IV-TR codes borderline intellectual functioning as V62.89.
During school years, individuals with borderline intellectual functioning are often "slow learners." Although a large percentage of this group fails to complete high school and can often achieve only a low socioeconomic status, most adults in this group blend in with the rest of the population.
Hyperlexic children are characterized by word-reading ability well above what would be expected given their ages and IQs. Hyperlexia can be viewed as a superability in which word recognition ability goes far above expected levels of skill. However, in spite of few problems with decoding, comprehension is poor. Some hyperlexics also have trouble understanding speech. Most or perhaps all children with hyperlexia lie on the autism spectrum. Between 5–10% of autistic children have been estimated to be hyperlexic.
Deficits in any area of information processing can manifest in a variety of specific learning disabilities. It is possible for an individual to have more than one of these difficulties. This is referred to as comorbidity or co-occurrence of learning disabilities. In the UK, the term "dual diagnosis" is often used to refer to co-occurrence of learning difficulties.
Cognitive deficit or cognitive impairment is an inclusive term to describe any characteristic that acts as a barrier to the cognition process.
The term may describe
- deficits in overall intelligence (as with intellectual disabilities),
- specific and restricted deficits in cognitive abilities (such as in learning disorders like dyslexia),
- neuropsychological deficits (such as in attention, working memory or executive function),
- or it may describe drug-induced impairment in cognition and memory (such as that seen with alcohol, glucocorticoids, and the benzodiazepines.)
It usually refers to a durable characteristic, as opposed to altered level of consciousness, which may be acute and reversible. Cognitive deficits may be inborn or caused by environmental factors such as brain injuries, neurological disorders, or mental illness.
Older people with cognitive impairment appear to improve somewhat with light therapy.
Pragmatic language impairment (PLI), or social (pragmatic) communication disorder (SCD), is an impairment in understanding pragmatic aspects of language. This type of impairment was previously called semantic-pragmatic disorder (SPD). People with these impairments have special challenges with the semantic aspect of language (the meaning of what is being said) and the pragmatics of language (using language appropriately in social situations). It is assumed that those with autism have difficulty with "the meaning of what is being said" due to different ways of responding to social situations.
PLI is now a diagnosis in DSM-5, and is called social (pragmatic) communication disorder. Communication problems are also part of the autism spectrum disorders (ASD); however, the latter also show a restricted pattern of behavior, according to behavioral psychology. The diagnosis SCD can only be given if ASD has been ruled out.
Although many researchers believe dyscalculia to be a persistent disorder, evidence on the persistence of dyscalculia remains mixed. For instance, in a study done by Mazzocco and Myers (2003), researchers evaluated children on a slew of measures and selected their most consistent measure as their best diagnostic criterion: a stringent 10th-percentile cut-off on the TEMA-2. Even with their best criterion, they found dyscalculia diagnoses for children longitudinally did not persist; only 65% of students who were ever diagnosed over the course of four years were diagnosed for at least two years. The percentage of children who were diagnosed in two consecutive years was further reduced. It is unclear whether this was the result of misdiagnosed children improving in mathematics and spatial awareness as they progressed as normal, or that the subjects who showed improvement were accurately diagnosed, but exhibited signs of a non-persistent learning disability.
Research on subtypes of dyscalculia has begun without consensus; preliminary research has focused on comorbid learning disorders as subtyping candidates. The most common comorbidity in individuals with dyscalculia is dyslexia. Most studies done with comorbid samples versus dyscalculic-only samples have shown different mechanisms at work and additive effects of comorbidity, indicating that such subtyping may not be helpful in diagnosing dyscalculia. But there is variability in results at present.
Due to high comorbidity with other disabilities such as dyslexia and ADHD, some researchers have suggested the possibility of subtypes of mathematical disabilities with different underlying profiles and causes. Whether a particular subtype is specifically termed "dyscalculia" as opposed to a more general mathematical learning disability is somewhat under debate in the scientific literature.
- Semantic memory: This subtype often coexists with reading disabilities such as dyslexia and is characterized by poor representation and retrieval from long-term memory. These processes share a common neural pathway in the left angular gyrus, which has been shown to be selective in arithmetic fact retrieval strategies and symbolic magnitude judgments. This region also shows low functional connectivity with language-related areas during phonological processing in adults with dyslexia. Thus, disruption to the left angular gyrus can cause both reading impairments and difficulties in calculation. This has been observed in individuals with Gerstmann syndrome, of which dyscalculia is one of constellation of symptoms.
- Procedural concepts: Research by Geary has shown that in addition to increased problems with fact retrieval, children with math disabilities may rely on immature computational strategies. Specifically, children with mathematical disabilities showed poor command of counting strategies unrelated to their ability to retrieve numeric facts. This research notes that it is difficult to discern whether poor conceptual knowledge is indicative of a qualitative deficit in number processing or simply a delay in typical mathematical development.
- Working memory: Studies have found that children with dyscalculia showed impaired performance on working memory tasks compared to neurotypical children. Furthermore, research has shown that children with dyscalculia have weaker activation of the intraparietal sulcus during visuospatial working memory tasks. Brain activity in this region during such tasks has been linked to overall arithmetic performance, indicating that numerical and working memory functions may converge in the intraparietal sulcus. However, working memory problems are confounded with domain-general learning difficulties, thus these deficits may not be specific to dyscalculia but rather may reflect a greater learning deficit. Dysfunction in prefrontal regions may also lead to deficits in working memory and other executive function, accounting for comorbidity with ADHD.
Studies have also shown indications of causes due to congenital or hereditary disorders, but evidence of this is not yet concrete.
Dysgraphia is nearly always accompanied by other learning differences such as dyslexia or attention deficit disorder, and this can impact the type of dysgraphia a person might have. There are three principal subtypes of dysgraphia that are recognized. There is little information available about different types of dysgraphia and there are likely more subtypes than the ones listed below. Some children may have a combination of two or more of these, and individual symptoms may vary in presentation from what is described here. Most common presentation is a motor dysgraphia/agraphia resulting from damage to some part of the motor cortex in the parietal lobes.
There are some common problems not related to dysgraphia but often associated with dysgraphia, the most common of which is stress. Often children (and adults) with dysgraphia will become extremely frustrated with the task of writing (and spelling); younger children may cry, pout, or refuse to complete written assignments. This frustration can cause the child (or adult) a great deal of stress and can lead to stress-related illnesses. This can be a result of any symptom of dysgraphia.
Savant syndrome is a condition in which a person demonstrates one or more profound and prodigious capacities or abilities far in excess of what would be considered normal, yet often also has significant deficits in other areas of brain processing.
People with savant syndrome may have neurodevelopmental disorders, notably autism spectrum disorders (in which case they are often referred to as autistic savants), or brain injuries. The most dramatic examples of savant syndrome occur in individuals who score very low on IQ tests, while demonstrating exceptional skills or brilliance in specific areas, such as rapid calculation (hypercalculia), art, memory, or musical ability. Although termed a syndrome, it is not recognized as a mental disorder nor as part of a mental disorder in medical manuals such as the ICD-10 or the DSM-5.
Another form of savant syndrome is acquired savant syndrome, in which a person acquires prodigious capabilities or skills following dementia, a head injury or concussion, epilepsy, or other brain disturbances. This syndrome is more rare, with a study by Darold Treffert in 2010 showing that in a registry of 319 known savants, only 32 had acquired savant syndrome.
Savant skills are usually found in one or more of five major areas: art, memory, arithmetic, musical abilities, and spatial skills.
The most common kind of savants are calendrical savants, "human calendars" who can calculate the day of the week for any given date with speed and accuracy, or recall personal memories from any given date. Advanced memory is the key "superpower" in savant abilities.
Approximately half of savants are autistic; the other half often have some form of central nervous system injury or disease.
It is estimated that 10% of those with autism have some form of savant abilities.
Autistic individuals can display many forms of repetitive or restricted behavior, which the Repetitive Behavior Scale-Revised (RBS-R) categorizes as follows.
- Stereotyped behaviors: Repetitive movements, such as hand flapping, head rolling, or body rocking.
- Compulsive behaviors: Time-consuming behaviors intended to reduce anxiety that an individual feels compelled to perform repeatedly or according to rigid rules, such as placing objects in a specific order, checking things, or hand washing.
- Sameness: Resistance to change; for example, insisting that the furniture not be moved or refusing to be interrupted.
- Ritualistic behavior: Unvarying pattern of daily activities, such as an unchanging menu or a dressing ritual. This is closely associated with sameness and an independent validation has suggested combining the two factors.
- Restricted interests: Interests or fixations that are abnormal in theme or intensity of focus, such as preoccupation with a single television program, toy, or game.
- Self-injury: Behaviors such as eye-poking, skin-picking, hand-biting and head-banging.
No single repetitive or self-injurious behavior seems to be specific to autism, but autism appears to have an elevated pattern of occurrence and severity of these behaviors.
Autism is a highly variable neurodevelopmental disorder that first appears during infancy or childhood, and generally follows a steady course without remission. People with autism may be severely impaired in some respects but normal, or even superior, in others. Overt symptoms gradually begin after the age of six months, become established by age two or three years, and tend to continue through adulthood, although often in more muted form. It is distinguished not by a single symptom, but by a characteristic triad of symptoms: impairments in social interaction; impairments in communication; and restricted interests and repetitive behavior. Other aspects, such as atypical eating, are also common but are not essential for diagnosis. Autism's individual symptoms occur in the general population and appear not to associate highly, without a sharp line separating pathologically severe from common traits.
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.
Late talker is a term used for exceptionally bright people who experience a delay in the development of speech. Commonalities include usually being boys, delayed speech development, highly educated parents, musically gifted families, puzzle-solving abilities, and lagging social development. Many high-achieving late talkers were notoriously strong willed and noncompliant as children. Late talkers can often be misdiagnosed early on as having severe ("low-functioning") autism spectrum disorder (a category known simply as "autism", prior to the DSM-5), and careful professional evaluation is necessary for differential diagnosis, according to Darold Treffert and other experts. One major difference between late talkers and low-functioning autistic children is that for late talkers, communication skills automatically reach a normal level and the child requires no further special treatment with regards to speech. Outlook for late talkers with or without intervention is generally favorable. However, late language emergence can also be an early or secondary sign of high-functioning autism spectrum disorder / Asperger syndrome, or other developmental disorders, such as attention deficit hyperactivity disorder, intellectual disability, learning disability, social communication disorder, or specific language impairment.
Einstein syndrome, a term coined by the economist Thomas Sowell, is also sometimes used to describe late talkers. The term is named after Albert Einstein (often said to have been a late talker, though with questionable evidence), whom Sowell used as the primary example of a late talker in his work. Sowell also included Edward Teller, Srinivasa Ramanujan, the mathematician Julia Robinson, Richard Feynman, and the pianists Clara Schumann and Arthur Rubinstein to be in the late talkers group. As a toddler, the scientist John Clive Ward showed similar behavioral traits to those described by Sowell, according to a brief sketch of his biography.
Sowell claimed late talkers are often inaccurately categorized as having an autism spectrum disorder (ASD), and that a small subset of late talkers are highly intelligent children with common characteristics concentrated in music, memory, math or the sciences. However, as reported by Simon Baron-Cohen, such characteristics are often found in high-functioning autism / Asperger syndrome.
Children with Attention Deficit and Disruptive Behavior Disorders may show the following symptoms:
- impulsivity or distractibility
- difficulty socializing
- aggressive behavior
- difficulty following rules or directions
- difficulty completing a task
- problems at school
- frustration
- alcohol or drug use
Mental retardation is coded on Axis II of the DSM-IV-TR. The diagnostic criteria necessary in order to diagnose intellectual disability consists of:
There are varying degrees of intellectual disability, which are identified by an IQ test.
Mental retardation, Severity Unspecified: This unspecified diagnosis is given when there is a strong assumption that the child is mentally retarded, but cannot be tested because the individual is too impaired, not willing to take the IQ test or is an infant.