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 special 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 as 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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Image 1Although 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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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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Image 3PLOS Biology is a monthly peer-reviewed scientific journal covering all aspects of biology. Publication began on October 13, 2003. It is the first journal published by the Public Library of Science. The editor-in-chief is Nonia Pariente.
In addition to research articles, the journal publishes magazine content aimed to be accessible to a broad audience. Article types in this section are essays, "unsolved mysteries", editorials, and synopses. (Full article...) -
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Anxiety disorders are a group 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 5Organs of the gastrointestinal tract
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 6Brain: A Journal of Neurology is a peer-reviewed scientific journal of neurology, founded in 1878 by John Charles Bucknill, David Ferrier, James Crichton-Browne and John Hughlings Jackson. It is published by Oxford University Press.
The journal was edited by John Newsom-Davis from 1997 to 2004, Alastair Compston (Cambridge University) until 2013, and Dimitri Kullmann (UCL) until 2021. The current editor-in-chief is Masud Husain (University of Oxford). (Full article...) -
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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...) -
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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 9The 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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Image 10People with ADHD struggle more than others to sustain their attention on some tasks (such as schoolwork), but may maintain an unusually intense level of attention for tasks they find immediately rewarding or interesting.
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 11Inborn 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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Image 12Comprehensive 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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Feeling soft or otherwise enjoyable textures is a common form of stimming.
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...) -
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Epilepsy is a group of non-communicable neurological disorders characterized by recurrent epileptic seizures. An epileptic seizure is the clinical manifestation of an abnormal, excessive, and synchronized electrical discharge in the neurons. The occurrence of two or more unprovoked seizures defines epilepsy. The occurrence of just one seizure may warrant the definition (set out by the International League Against Epilepsy) in a more clinical usage where recurrence may be able to be prejudged. Epileptic seizures can vary from brief and nearly undetectable periods to long periods of vigorous shaking due to abnormal electrical activity in the brain. These episodes can result in physical injuries, either directly such as broken bones or through causing accidents. In epilepsy, seizures tend to recur and may have no detectable underlying cause. Isolated seizures that are provoked by a specific cause such as poisoning are not deemed to represent epilepsy. People with epilepsy may be treated differently in various areas of the world and experience varying degrees of social stigma due to the alarming nature of their symptoms.
The underlying mechanism of an epileptic seizure is excessive and abnormal neuronal activity in the cortex of the brain which can be observed in the electroencephalogram (EEG) of an individual. The reason this occurs in most cases of epilepsy is unknown (cryptogenic); some cases occur as the result of brain injury, stroke, brain tumors, infections of the brain, or birth defects through a process known as epileptogenesis. Known genetic mutations are directly linked to a small proportion of cases. The diagnosis involves ruling out other conditions that might cause similar symptoms, such as fainting, and determining if another cause of seizures is present, such as alcohol withdrawal or electrolyte problems. This may be partly done by imaging the brain and performing blood tests. Epilepsy can often be confirmed with an EEG, but a normal reading does not rule out the condition. (Full article...) -
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Feeling soft or otherwise enjoyable textures is a common form of stimming.
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 16A stereotypy (/ˈstɛri.əˌtaɪpi, ˈstɪər-, -i.oʊ-/, STERR-ee-ə-ty-pee, STEER-, -ee-oh-) is a repetitive or ritualistic movement, posture, or utterance. Stereotypies may be simple movements such as body rocking, or complex, such as self-caressing, crossing and uncrossing of legs, and marching in place. They are found especially in people with autism spectrum disorders, visually impaired children, and are also found in intellectual disabilities, tardive dyskinesia and stereotypic movement disorder, yet may also be encountered in neurotypical individuals as well. Studies have shown stereotypies to be associated with some types of schizophrenia. Frontotemporal dementia is also a common neurological cause of repetitive behaviors and stereotypies. A number of causes have been hypothesized for stereotypy, and several treatment options are available.
Stereotypy is sometimes called stimming in autism, under the hypothesis that it self-stimulates one or more senses. (Full article...) -
Image 17The 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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Image 18The 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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Image 19
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 20Children with intellectual disabilities and other developmental conditions competing in the Special Olympics World Games
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 21Research 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 22Special 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...) -
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Feeling soft or otherwise enjoyable textures is a common form of stimming.
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 24
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...) -
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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
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Image 1A young autistic boy who has arranged his toys in a row (from Autism)
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Image 2The puzzle piece symbol as used in the autism awareness ribbon used by Autism Speaks (from Autism)
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Image 3An 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)
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Image 5Hundreds of different genes are implicated in susceptibility to developing autism, most of which alter the brain structure in a similar way. (from Autism)
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Image 6In 2021, screenwriter and actor Wentworth Miller revealed his autism diagnosis in a now-deleted Instagram post, stating it was "a shock" but "not a surprise". (from Autism)
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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)
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Image 9Euler 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)
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Image 10In 1996, American academic Temple Grandin published Emergence: Labeled Autistic, describing her life experiences as an autistic person. (from Autism)
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Image 12In 2021, Swedish climate activist Greta Thunberg likened her autism to a "superpower", crediting her success to her special interests. (from Autism)
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