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Introduction
Autism, also called autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental disorder marked by restricted and repetitive patterns of behavior and deficits in reciprocal social communication. Other common signs include perseverative interests, stereotypic body movements (stimming), rigid routines, hyper- or hyporeactivity to sensory input, and difficulty with social interaction and verbal and nonverbal communication. Autism is clinically regarded as a spectrum disorder, meaning that it can manifest very differently in each person. For example, some are nonspeaking, while others have proficient spoken language. Because of this, there is wide variation in the support needs of people across the autism spectrum.
Psychiatry has traditionally classified autism as a mental disorder, but the autism rights movement (and an increasing number of researchers) see autistic people with low support needs as a part of humanity's natural neurodiversity. From this point of view, autistic people may also be diagnosed with a disability of some sort, but that disability may be rooted in the systemic structures of a society rather than in the person; thus, proponents argue that autistic people should be accommodated rather than cured. The neurodiversity perspective has led to significant controversy among those who are autistic and advocates, practitioners, and charities. (Full article...)
Selected general articles
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A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a de novo mutation), or it can be inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size).
There are well over 6,000 known genetic disorders, and new genetic disorders are constantly being described in medical literature. More than 600 genetic disorders are treatable. Around 1 in 50 people are affected by a known single-gene disorder, while around 1 in 263 are affected by a chromosomal disorder. Around 65% of people have some kind of health problem as a result of congenital genetic mutations. Due to the significantly large number of genetic disorders, approximately 1 in 21 people are affected by a genetic disorder classified as "rare" (usually defined as affecting less than 1 in 2,000 people). Most genetic disorders are rare in themselves. (Full article...) - Image 2Autism spectrum disorder (ASD) is a term used to define a group of developmental disorders that are characterized by disruption in communication and social abilities, limited eye contact, exhibiting repetitive behaviors, and having limited interests. Due to the impact that autism has on communication and social interactions, language is affected in most instances. (Full article...)
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Intellectual disability (ID), also known as general learning disability (in the United Kingdom) and mental retardation, is a generalized neurodevelopmental disorder characterized by significant impairment in intellectual and adaptive functioning that is first apparent during childhood. Children with intellectual disabilities typically have an intelligence quotient (IQ) below 70 and deficits in at least two adaptive behaviors that affect everyday, general living. According to the DSM-5, intellectual functions include reasoning, problem solving, planning, abstract thinking, judgment, academic learning, and learning from experience. Deficits in these functions must be confirmed by clinical evaluation and individualized standard IQ testing. On the other hand, adaptive behaviors include the social, developmental, and practical skills people learn to perform tasks in their everyday lives. Deficits in adaptive functioning often compromises an individual's independence and ability to meet their social responsibility.
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. (Full article...) - Image 4Pathological demand avoidance (PDA) or extreme demand avoidance (EDA) is a proposed disorder, and sub-type of autism spectrum disorder, defined by characteristics such as a demand avoidance—which is a greater-than-typical refusal to comply with requests or expectations—and extreme efforts to avoid social demands. Any expectation, even routine activities, such as brushing teeth, or highly desired activities, such as getting ready to leave home to visit a playground, can trigger avoidant behavior. If the demand cannot be avoided, a panic attack or a meltdown may ensue. Depending on an individual's trigger, the intensity of their reactions may differ. Looking at a PDA profile can help determine explanations for the demand avoidance, whether it is internalized or externalized. (Full article...)
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The basal ganglia (BG) or basal nuclei are a group of subcortical nuclei found in the brains of vertebrates. In humans and other primates, differences exist, primarily in the division of the globus pallidus into external and internal regions, and in the division of the striatum. Positioned at the base of the forebrain and the top of the midbrain, they have strong connections with the cerebral cortex, thalamus, brainstem and other brain areas. The basal ganglia are associated with a variety of functions, including regulating voluntary motor movements, procedural learning, habit formation, conditional learning, eye movements, cognition, and emotion.
The main functional components of the basal ganglia include the striatum, consisting of both the dorsal striatum (caudate nucleus and putamen) and the ventral striatum (nucleus accumbens and olfactory tubercle), the globus pallidus, the ventral pallidum, the substantia nigra, and the subthalamic nucleus. Each of these components has complex internal anatomical and neurochemical structures. The largest component, the striatum (dorsal and ventral), receives input from various brain areas but only sends output to other components of the basal ganglia. The globus pallidus receives input from the striatum and sends inhibitory output to a number of motor-related areas. The substantia nigra is the source of the striatal input of the neurotransmitter dopamine, which plays an important role in basal ganglia function. The subthalamic nucleus mainly receives input from the striatum and cerebral cortex and projects to the globus pallidus. (Full article...) - Image 6
Dysautonomia, autonomic failure, or autonomic dysfunction is a condition in which the autonomic nervous system (ANS) does not work properly. This may affect the functioning of the heart, bladder, intestines, sweat glands, pupils, and blood vessels. Dysautonomia has many causes, not all of which may be classified as neuropathic. A number of conditions can feature dysautonomia, such as Parkinson's disease, multiple system atrophy, dementia with Lewy bodies, Ehlers–Danlos syndromes, autoimmune autonomic ganglionopathy and autonomic neuropathy, HIV/AIDS, mitochondrial cytopathy, pure autonomic failure, autism, and postural orthostatic tachycardia syndrome.
Diagnosis is made by functional testing of the ANS, focusing on the affected organ system. Investigations may be performed to identify underlying disease processes that may have led to the development of symptoms or autonomic neuropathy. Symptomatic treatment is available for many symptoms associated with dysautonomia, and some disease processes can be directly treated. Depending on the severity of the dysfunction, dysautonomia can range from being nearly symptomless and transient to disabling and/or life-threatening. (Full article...) - Image 7
Anxiety disorders are a cluster of mental disorders characterized by significant and uncontrollable feelings of anxiety and fear such that a person's social, occupational, and personal functions are significantly impaired. Anxiety may cause physical and cognitive symptoms, such as restlessness, irritability, easy fatigue, difficulty concentrating, increased heart rate, chest pain, abdominal pain, and a variety of other symptoms that may vary based on the individual.
In casual discourse, the words anxiety and fear are often used interchangeably. In clinical usage, they have distinct meanings; anxiety is clinically defined as an unpleasant emotional state for which the cause is either not readily identified or perceived to be uncontrollable or unavoidable, whereas fear is clinically defined as an emotional and physiological response to a recognized external threat. The umbrella term 'anxiety disorder' refers to a number of specific disorders that include fears (phobias) and/or anxiety symptoms. (Full article...) - Image 8Comprehensive Psychiatry is a bimonthly peer-reviewed medical journal covering psychopathology. It was established in 1960 and is published by Elsevier. The editor-in-chief is Naomi Fineberg (University of Hertfordshire). According to the Journal Citation Reports, the journal has a 2017 impact factor of 2.128. (Full article...)
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Echolalia is the unsolicited repetition of vocalizations made by another person (when repeated by the same person, it is called palilalia). In its profound form it is automatic and effortless. It is one of the echophenomena, closely related to echopraxia, the automatic repetition of movements made by another person; both are "subsets of imitative behavior" whereby sounds or actions are imitated "without explicit awareness". Echolalia may be an immediate reaction to a stimulus or may be delayed.
Echolalia occurs in many cases of autism spectrum disorder and Tourette syndrome. It may also occur in several other neurological conditions such as some forms of dementia or stroke-related aphasia. (Full article...) - Image 10
Compulsive behavior (or compulsion) is defined as performing an action persistently and repetitively. Compulsive behaviors could be an attempt to make obsessions go away. Compulsive behaviors are a need to reduce apprehension caused by internal feelings a person wants to abstain from or control. A major cause of compulsive behavior is said to be obsessive–compulsive disorder (OCD). "The main idea of compulsive behavior is that the likely excessive activity is not connected to the purpose to which it appears directed." There are many different types of compulsive behaviors including shopping, hoarding, eating, gambling, trichotillomania and picking skin, itching, checking, counting, washing, sex, and more. Also, there are cultural examples of compulsive behavior. (Full article...) - Image 11Special interests are highly focused interests common in autistic people.
Special interests are more intense than typical interests, such as hobbies, and may take up much of a person's free time. A person with a special interest will often hyperfocus on their special interest for hours, want to learn as much as possible on the topic, collect related items, and incorporate their special interest into play and art.
Some interests are more likely to be seen as special interests if they are particularly unusual, specific, or niche. Autism rights advocates and psychologists say this binary of acceptable "passions" and pathologised "obsessions" is unfair. Terms like circumscribed interests, obsessions, or restricted interests have historically been used to describe special interests, but these terms are discouraged by autism rights advocates. (Full article...) - Image 12
Depression is a mental state of low mood and aversion to activity. It affects more than 280 million people of all ages (about 3.5% of the global population). Depression affects a person's thoughts, behavior, feelings, and sense of well-being. Depressed people often experience loss of motivation or interest in, or reduced pleasure or joy from, experiences that would normally bring them pleasure or joy.
Depressed mood is a symptom of some mood disorders such as major depressive disorder and dysthymia; it is a normal temporary reaction to life events, such as the loss of a loved one; and it is also a symptom of some physical diseases and a side effect of some drugs and medical treatments.
It may feature sadness, difficulty in thinking and concentration and a significant increase or decrease in appetite and time spent sleeping. People experiencing depression may have feelings of dejection or hopelessness and may experience suicidal thoughts. It can either be short term or long term. (Full article...) - Image 13
Self-stimulatory behavior, also known as "stimming" and self-stimulation, is the repetition of physical movements, sounds, words, moving objects, or other behaviors. Such behaviors (also scientifically known as "stereotypies") are found to some degree in all people, especially those with developmental disabilities such as ADHD, as well as autistic people. People diagnosed with sensory processing disorder are also known to potentially exhibit stimming behaviors.
Stimming has been interpreted as a protective response to overstimulation, in which people calm themselves by blocking less predictable environmental stimuli, to which they have a heightened sensitivity. A further explanation views stimming as a way to relieve anxiety and other negative or heightened emotions. (Full article...) - Image 14
Self-stimulatory behavior, also known as "stimming" and self-stimulation, is the repetition of physical movements, sounds, words, moving objects, or other behaviors. Such behaviors (also scientifically known as "stereotypies") are found to some degree in all people, especially those with developmental disabilities such as ADHD, as well as autistic people. People diagnosed with sensory processing disorder are also known to potentially exhibit stimming behaviors.
Stimming has been interpreted as a protective response to overstimulation, in which people calm themselves by blocking less predictable environmental stimuli, to which they have a heightened sensitivity. A further explanation views stimming as a way to relieve anxiety and other negative or heightened emotions. (Full article...) - Image 15
Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterised by executive dysfunction occasioning symptoms of inattention, hyperactivity, impulsivity and emotional dysregulation that are excessive and pervasive, impairing in multiple contexts, and otherwise age-inappropriate.
ADHD symptoms arise from executive dysfunction, and emotional dysregulation is often considered a core symptom. Difficulties with self-regulation such as time management, inhibition and sustained attention may result in poor professional performance, relationship difficulties and numerous health risks, collectively predisposing to a diminished quality of life and a direct average reduction in life expectancy of 13 years. ADHD is associated with other neurodevelopmental and mental disorders as well as some non-psychiatric disorders, which can cause additional impairment, especially in modern society. (Full article...) - Image 16Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or due to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology, a science based on the study of the enzymes and their products. Finally, inborn errors of metabolism were studied for the first time by British physician Archibald Garrod (1857–1936), in 1908. He is known for work that prefigured the "one gene-one enzyme" hypothesis, based on his studies on the nature and inheritance of alkaptonuria. His seminal text, Inborn Errors of Metabolism, was published in 1923. (Full article...)
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Learning disability, learning disorder, or learning difficulty (British English) is a condition in the brain that causes difficulties comprehending or processing information and can be caused by several different 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 possible lack of an ability to learn and possible negative stereotyping. In the United Kingdom, the term "learning disability" generally refers to an intellectual disability, while conditions such as dyslexia and dyspraxia are usually referred to as "learning difficulties".
While learning disability and learning disorder 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 (such as a psychologist, psychiatrist, speech-language pathologist, or paediatrician). The difference is in the 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), arithmetic (dyscalculia) and writing (dysgraphia). (Full article...) - Image 18Mast cell activation syndrome (MCAS) is a term referring to one of two types of mast cell activation disorder (MCAD); the other type is idiopathic MCAD. MCAS is an immunological condition in which mast cells inappropriately and excessively release chemical mediators, resulting in a range of chronic symptoms, sometimes including anaphylaxis or near-anaphylaxis attacks. Primary symptoms include cardiovascular, dermatological, gastrointestinal, neurological and respiratory problems.
MCAS is an umbrella term that describes a set of symptoms; it is not a specific diagnosis. Multiple diagnostic schemes for MCAS have been proposed. MCAS has often been misdiagnosed, especially as medical professionals and patients don’t understand that symptoms can wax or wane, and it can be a seemingly slow buildup with symptoms occurring in multiple organ systems before anaphylaxis type episodes; many healthcare providers are not trained to recognize its symptoms nor know much about what to do with it; after all, it was only in 2010 that diagnostic criteria was formalized. (Full article...) - Image 19
Insomnia, also known as sleeplessness, is a sleep disorder where people have trouble sleeping. They may have difficulty falling asleep, or staying asleep for as long as desired. Insomnia is typically followed by daytime sleepiness, low energy, irritability, and a depressed mood. It may result in an increased risk of accidents of all kinds as well as problems focusing and learning. Insomnia can be short term, lasting for days or weeks, or long term, lasting more than a month. The concept of the word insomnia has two possibilities: insomnia disorder (ID) and insomnia symptoms, and many abstracts of randomized controlled trials and systematic reviews often underreport on which of these two possibilities the word insomnia refers to.
Insomnia can occur independently or as a result of another problem. Conditions that can result in insomnia include ADHD, psychological stress, chronic pain, heart failure, hyperthyroidism, heartburn, restless leg syndrome, menopause, certain medications, and drugs such as caffeine, nicotine, and alcohol. Other risk factors include working night shifts and sleep apnea. Diagnosis is based on sleep habits and an examination to look for underlying causes. A sleep study may be done to look for underlying sleep disorders. Screening may be done with two questions: "do you experience difficulty sleeping?" and "do you have difficulty falling or staying asleep?" (Full article...) - Image 20The Journal of Autism and Developmental Disorders is a monthly peer-reviewed medical journal covering research on all aspects of autism spectrum disorders and related developmental disabilities. The journal was established in 1971 as the Journal of Autism and Childhood Schizophrenia, obtaining its current title in 1979. It is published by Springer Science+Business Media and the editor-in-chief is Lynn Kern Koegel (Stanford University). (Full article...)
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Gastrointestinal diseases (abbrev. GI diseases or GI illnesses) refer to diseases involving the gastrointestinal tract, namely the esophagus, stomach, small intestine, large intestine and rectum, and the accessory organs of digestion, the liver, gallbladder, and pancreas. (Full article...) - Image 22
Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin. A combination of symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, lung disease, and kidney disease.
TSC is caused by a mutation of either of two genes, TSC1 and TSC2, which code for the proteins hamartin and tuberin, respectively, with TSC2 mutations accounting for the majority and tending to cause more severe symptoms. These proteins act as tumor growth suppressors, agents that regulate cell proliferation and differentiation. (Full article...) - Image 23Research in Developmental Disabilities is a bimonthly peer-reviewed medical journal covering developmental disabilities. It was formed in 1987 by the merger of Analysis and Intervention in Developmental Disabilities and Applied Research in Mental Retardation, which were established in 1981 and 1980, respectively. It is published by Elsevier and the editor-in-chief is Dagmara Dimitriou (UCL Institute of Education).
In early February of 2015, the journal's founding editor-in-chief Johnny Matson (Louisiana State University) was accused of excessively citing his own works and thereby inflating his citation counts. An investigation by Elsevier came to the conclusion that Matson had used his position to have papers published without proper peer review that used assessment batteries developed by himself and sold through a company registered in his wife's name, failing to report this conflict of interest. This eventually led to the retraction of 24 papers across Research in Developmental Disabilities and Research in Autism Spectrum Disorders, a second Elsevier journal edited by Matson. Matson was also criticized for publishing a large number of his own papers, citing his own work, in these journals. Effective March 2015 Elsevier appointed Dagmara Dimitriou as the new editor-in-chief and updated the journal's editorial policies. (Full article...) - Image 24Although some people who self-harm do not have any form of recognized mental disorder, self-harm often co-occurs with psychiatric conditions. Self-harm is for example associated with eating disorders, autism spectrum disorders, borderline personality disorder, dissociative disorders, bipolar disorder, depression, phobias, and conduct disorders. As many as 70% of individuals with borderline personality disorder engage in self-harm. An estimated 30% of individuals with autism spectrum disorders engage in self-harm at some point, including eye-poking, skin-picking, hand-biting, and head-banging. According to a meta-analysis that did not distinguish between suicidal and non-suicidal acts, self-harm is common among those with schizophrenia and is a significant predictor of suicide. There are parallels between self-harm and Münchausen syndrome, a psychiatric disorder in which individuals feign illness or trauma. There may be a common ground of inner distress culminating in self-directed harm in a Münchausen patient. However, a desire to deceive medical personnel in order to gain treatment and attention is more important in Münchausen's than in self-harm. (Full article...)
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Classic autism, also known as childhood autism, autistic disorder, (early) infantile autism, infantile psychosis, Kanner's autism, Kanner's syndrome, or (formerly) just autism, is a neurodevelopmental condition first described by Leo Kanner in 1943. It is characterized by atypical and impaired development in social interaction and communication as well as restricted, repetitive behaviors, activities, and interests. These symptoms first appear in early childhood and persist throughout life.
It was last recognized as a diagnosis in the DSM-IV and ICD-10, and has been superseded by autism spectrum disorder in the DSM-5 (2013) and ICD-11 (2022). Globally, classic autism was estimated to affect 24.8 million people . (Full article...)
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Selected images
- Image 1The puzzle piece symbol as used in the autism awareness ribbon used by Autism Speaks (from Autism)
- Image 2An autistic three-year-old points to fish in an aquarium, as part of an experiment on the effect of intensive shared-attention training on language development. (from Autism)
- Image 5Euler diagram showing overlapping clinical phenotypes in genes associated with monogenic forms of autism spectrum disorder (ASD), dystonia, epilepsy and schizophrenia:Genes associated with epilepsyGenes associated with schizophreniaGenes associated with autism spectrum disorderGenes associated with dystonia(from Autism)
- Image 6Hundreds of different genes are implicated in susceptibility to developing autism, most of which alter the brain structure in a similar way. (from Autism)
- Image 7Reports of autism cases per 1,000 children rose considerably in the US from 1996 to 2007. It is unknown how much growth came from changes in rates of autism. (from Autism)
- Image 9A young autistic boy who has arranged his toys in a row (from Autism)
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