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Introduction

Autism, also called autism spectrum disorder (ASD), is a neurodevelopmental disorder characterized by symptoms of deficient reciprocal social communication and the presence of restricted, repetitive, and inflexible patterns of behavior. Autism generally affects a person's ability to understand and connect with others, as well as their adaptability to everyday situations, with its severity and support needs varying widely across the spectrum. For example, some are nonspeaking, while others have very proficient spoken language.

A formal diagnosis of ASD according to either the DSM-5 or the World Health Organization's ICD-11 criteria requires not merely the presence of ASD symptoms, but symptoms that cause significant impairment in multiple domains of functioning, in addition to being atypical or excessive for the individual's age and sociocultural context. (Full article...)

Selected general articles

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  Organs 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...)
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  A 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...)
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  Classification is the activity of assigning objects to some pre-existing classes or categories. This is distinct from the task of establishing the classes themselves (for example through cluster analysis). Examples include diagnostic tests, identifying spam emails and deciding whether to give someone a driving license.
  
  As well as 'category', synonyms or near-synonyms for 'class' include 'type', 'species', 'order', 'concept', 'taxon', 'group', 'identification' and 'division'. (Full article...)
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  Dermatophagia – extreme nail biting / biting of skin to point of an obsessive–compulsive disorder (OCD) or other condition leading to self mutilating behaviour such as autistic spectrum disorders (as is the case in this example) or Lesch-Nyhan Syndrome.

  
  
  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...)
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  The 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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  Mast 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 been increasingly over-diagnosed or misdiagnosed. (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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  The 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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  Autism 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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  Inborn 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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  Cloth embroidered by a person diagnosed with schizophrenia

  
  Schizophrenia is a mental disorder characterized by hallucinations (typically hearing voices), delusions, disorganized thinking and behavior, and flat or inappropriate affect. Symptoms develop gradually and typically begin during young adulthood and are never resolved. There is no objective diagnostic test; diagnosis is based on observed behavior, a psychiatric history that includes the person's reported experiences, and reports of others familiar with the person. For a diagnosis of schizophrenia, the described symptoms need to have been present for at least six months (according to the DSM-5) or one month (according to the ICD-11). Many people with schizophrenia have other mental disorders, especially mood disorders, anxiety disorders, and obsessive–compulsive disorder.
  
  
  About 0.3% to 0.7% of people are diagnosed with schizophrenia during their lifetime. In 2017, there were an estimated 1.1 million new cases and in 2022 a total of 24 million cases globally. Males are more often affected and on average have an earlier onset than females. The causes of schizophrenia may include genetic and environmental factors. Genetic factors include a variety of common and rare genetic variants. Possible environmental factors include being raised in a city, childhood adversity, cannabis use during adolescence, infections, the age of a person's mother or father, and poor nutrition during pregnancy. (Full article...)
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  Healed scars on the forearm from prior self-harm

  
  Self-harm is intentional conduct that is considered harmful to oneself. This is most commonly regarded as direct injury of one's own skin tissues, usually without suicidal intention. Other terms such as cutting, self-injury, and self-mutilation have been used for any self-harming behavior regardless of suicidal intent. Common forms of self-harm include damaging the skin with a sharp object or scratching with the fingernails, hitting, or burning. The exact bounds of self-harm are imprecise, but generally exclude tissue damage that occurs as an unintended side-effect of eating disorders or substance abuse, as well as more societally acceptable body modification such as tattoos and piercings.
  
  Although self-harm is by definition non-suicidal, it may still be life-threatening. People who do self-harm are more likely to die by suicide, and self-harm is found in 40–60% of suicides. Still, only a minority of those who self-harm are suicidal. (Full article...)
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  A splinter skill is an "ability to do a specific task that does not generalize to other tasks", according to Occupational Therapy for Physical Dysfunction. Cheatum and Hammond define them as skills learned that are above the child's age. Jacks writes that they are skills that are not "an integral part of the orderly sequential development"; that is, skills mastered before they are developmentally expected.
  
  According to Ayres and Robbins, an example is "the ability to play a particular piece on the piano without having the generalized ability to play the piano". (Full article...)
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  Lithograph of a person diagnosed with melancholia and strong suicidal tendency in 1892

  
  Depression is a mental state of low mood and aversion to activity. It affects about 3.5% of the global population, or about 280 million people of all ages (as of 2020). Depression affects a person's thoughts, behavior, feelings, and sense of well-being. Experiences that would normally bring a person pleasure or joy give reduced pleasure or joy, and the afflicted person often experiences a loss of motivation or interest in those activities.
  
  Depressed mood is a symptom of some mood disorders, also categorized and called depression, such as major depressive disorder, bipolar 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, or 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. Depression can either be short term or long term. (Full article...)
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  The Scream (Norwegian: Skrik) a painting by Norwegian artist Edvard Munch

  
  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...)
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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...)
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  Major brain structures implicated in autism

  
  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 as of 2015. (Full article...)
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  Children 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 formerly mental retardation (in the United States), 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 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...)
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  Main symptoms and signs of tuberous sclerosis

  
  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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  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 developmentally-inappropriate.
  
  ADHD symptoms arise from executive dysfunction, and emotional dysregulation is often considered a core symptom. Difficulties in self-regulation such as time management, inhibition and sustained attention may cause 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 non-psychiatric disorders, which can cause additional impairment. (Full article...)
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  Pathological demand avoidance (PDA) or extreme demand avoidance (EDA) is a proposed disorder, and proposed 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. (Full article...)
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  People at a Learning Disabilities Month event in Times Square in 2012

  
  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...)
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  Diagram featuring examples of a disease located on each chromosome

  
  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 chromosome 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...)
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  Generalized 3 Hz spike-and-wave discharges on an electroencephalogram

  
  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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  Comprehensive 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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Selected images

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  Autism infinity symbol from 2013, featuring a rainbow gradient from left to right (from Autism)
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  The puzzle piece symbol as used in the autism awareness ribbon used by Autism Speaks from 2005 and now has negative associations (from Autism)
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  A young autistic boy who has arranged his toys in a row (from Autism)
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  In 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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  Reports 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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  Euler diagram showing overlapping clinical phenotypes in genes associated with monogenic forms of autism spectrum disorder (ASD), dystonia, epilepsy and schizophrenia:

    Genes associated with epilepsy

    Genes associated with schizophrenia

    Genes associated with autism spectrum disorder

    Genes associated with dystonia

  (from Autism)
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  An autistic boy arranging brads on a cork coaster (from Autism)
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  In 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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  Gold infinity loop, following Julian Morgan's 2018 push to use gold for autism (from Autism)
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  In 1996, American academic Temple Grandin published Emergence: Labeled Autistic, describing her life experiences as an autistic person. (from Autism)
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  An 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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  A 2024 Danish cohort study found increased risks for a multitude of comorbid physical diseases, especially in infancy (from Autism)
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  Hundreds 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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