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Introduction

Autism, also known as autism spectrum disorder (ASD), is a neurodevelopmental disorder characterized by differences or difficulties in social communication and interaction, a preference for predictability and routine, sensory processing differences, focused interests, and repetitive behaviors, which may include stimming. Formal diagnosis requires significant challenges in multiple domains of life, with characteristics that are atypical or more pronounced than expected for one's age and sociocultural context. Motor coordination difficulties are common but not required for diagnosis. Autism is a spectrum disorder, resulting in wide variations in presentation and support needs, such as that between speaking and non-speaking populations.

Increased estimates of autism prevalence since the 1990s are primarily attributed to broader criteria and increased awareness, although a true rise in prevalence is possible. The World Health Organization estimates about 1 in 100 children were diagnosed between 2012 and 2021, noting an increasing trend. This rise has fueled anti-vaccine activists' disproven claim that vaccines cause autism. While precise causes are mostly unknown, research shows that autism is highly heritable and polygenic. Environmental factors play a relatively small role, mainly prenatally. Boys are diagnosed significantly more often than girls. Autism frequently co-occurs with attention deficit hyperactivity disorder (ADHD), epilepsy, and intellectual disability. (Full article...)

Selected general articles

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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 a tendency for recurrent, unprovoked seizures. A seizure is a sudden burst of abnormal electrical activity in the brain that can cause a variety of symptoms, ranging from brief lapses of awareness or muscle jerks to prolonged convulsions. These episodes can result in physical injuries, either directly, such as broken bones, or through causing accidents. The diagnosis of epilepsy typically requires at least two unprovoked seizures occurring more than 24 hours apart. In some cases, however, it may be diagnosed after a single unprovoked seizure if clinical evidence suggests a high risk of recurrence. Isolated seizures that occur without recurrence risk or are provoked by identifiable causes are not considered indicative of epilepsy.
  
  The underlying cause is often unknown, but epilepsy can result from brain injury, stroke, infections, tumors, genetic conditions, or developmental abnormalities. Epilepsy that occurs as a result of other issues may be preventable. Diagnosis involves ruling out other conditions that can resemble seizures, and may include neuroimaging, blood tests, and electroencephalography (EEG). (Full article...)
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  A cohort study is a particular form of longitudinal study that samples a cohort (a group of people who share a defining characteristic, typically those who experienced a common event in a selected period, such as birth or graduation), performing a cross-section at intervals through time. It is a type of panel study where the individuals in the panel share a common characteristic.
  
  Cohort studies represent one of the fundamental designs of epidemiology which are used in research in the fields of medicine, pharmacy, nursing, psychology, social science, and in any field reliant on 'difficult to reach' answers that are based on evidence (statistics). In medicine for instance, while clinical trials are used primarily for assessing the safety of newly developed pharmaceuticals before they are approved for sale, epidemiological analysis on how risk factors affect the incidence of diseases is often used to identify the causes of diseases in the first place, and to help provide pre-clinical justification for the plausibility of protective factors (treatments). (Full article...)
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  Research 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...)
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  Depiction of insomnia from the 14th century medical manuscript Tacuinum Sanitatis

  
  Insomnia, also known as sleeplessness, is a sleep disorder where people have difficulty 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 distinct possibilities: insomnia disorder (ID) or insomnia symptoms, and many abstracts of randomized controlled trials and systematic reviews often underreport on which of these two possibilities the word refers to.
  
  
  Insomnia can occur independently or as a result of another problem. Conditions that can result in insomnia include psychological stress, chronic pain, heart failure, hyperthyroidism, heartburn, restless leg syndrome, menopause, certain medications, and drugs such as caffeine, nicotine, and alcohol. Insomnia is also common in people with ADHD, and children with autism. 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 questions like "Do you experience difficulty sleeping?" or "Do you have difficulty falling or staying asleep?" (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', 'forms', 'order', 'concept', 'taxon', 'group', 'identification' and 'division'. (Full article...)
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  Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but it is a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength. Hypotonia is a lack of resistance to passive movement whereas muscle weakness results in impaired active movement. Central hypotonia originates from the central nervous system, while peripheral hypotonia is related to problems within the spinal cord, peripheral nerves, and/or skeletal muscles. Severe hypotonia in infancy is commonly known as floppy baby syndrome. Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but diagnosing the underlying cause can be difficult and often unsuccessful. The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of the muscle weakness and the nature of the cause. Some disorders have a specific treatment but the principal treatment for most hypotonia of idiopathic or neurologic cause is physical therapy and/or occupational therapy for remediation.
  
  Hypotonia is thought to be associated with the disruption of afferent input from stretch receptors and/or lack of the cerebellum's facilitatory efferent influence on the fusimotor system, the system that innervates intrafusal muscle fibers thereby controlling muscle spindle sensitivity. On examination a diminished resistance to passive movement will be noted and muscles may feel abnormally soft and limp on palpation. Diminished deep tendon reflexes also may be noted. Hypotonia is a condition that can be helped with early intervention. (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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  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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  Brain: 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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  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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  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 compromise 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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  Gender dysphoria (GD) is the distress a person experiences due to inconsistency between their gender identity—their personal sense of their own gender—and their sex assigned at birth. The term replaced the previous diagnostic label of gender identity disorder (GID) in 2013 with the release of the diagnostic manual DSM-5. The condition was renamed to remove the stigma associated with the term disorder. The International Classification of Diseases uses the term gender incongruence (GI) instead of gender dysphoria, defined as a marked and persistent mismatch between gender identity and assigned gender, regardless of distress or impairment. Not all transgender people have gender dysphoria. Gender nonconformity is not the same thing as gender dysphoria and does not always lead to dysphoria or distress. In pre-pubertal youth, the diagnoses are gender dysphoria in childhood and gender incongruence of childhood.
  The causes of gender incongruence are unknown but a gender identity likely reflects genetic, biological, environmental, and cultural factors.
  
  Diagnosis can be given at any age, although gender dysphoria in children and adolescents may manifest differently than in adults. Complications may include anxiety, depression, and eating disorders. Treatment for gender dysphoria includes social transitioning and often includes hormone replacement therapy (HRT) or gender-affirming surgeries, and psychotherapy. (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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  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 worldwide, as of 2020. Depression affects a person's thoughts, behavior, feelings, and sense of well-being. The pleasure or joy that a person gets from certain experiences is reduced, and the afflicted person often experiences a loss of motivation or interest in those activities. People with depression may experience sadness, feelings of dejection or lack of hope, difficulty in thinking and concentration, hypersomnia or insomnia, overeating or anorexia, or suicidal thoughts.
  
  Depression can have multiple, sometimes overlapping, origins. Depression can be a symptom of some mood disorders, such as major depressive disorder, bipolar disorder and dysthymia. Additionally, depression can be a normal temporary reaction to life events, such as the loss of a loved one. Depression is also a symptom of some physical diseases and a side effect of some drugs and medical treatments. (Full article...)
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  Autistic art depicting a special interest in cats

  
  Special interests are highly focused interests common in autistic people. They 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.
  
  Special interests are sometimes confused with hyperfixations. Hyperfixations are typically short-lived periods of strong interest in a subject over a few days to months which are especially common in people with attention deficit hyperactivity disorder, while special interests are most common among autistic people and last for longer periods of time, typically years. (Full article...)
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  Many people with dyspraxia have difficulty with tying shoelaces, writing and performing tasks that require coordination.

  
  Developmental coordination disorder (DCD), also known as developmental motor coordination disorder, developmental dyspraxia, or simply dyspraxia (from Ancient Greek praxis 'activity'), is a neurodevelopmental disorder characterized by impaired coordination of physical movements as a result of brain messages not being accurately transmitted to the body. Deficits in fine or gross motor skills movements interfere with activities of daily living. It is often described as disorder in skill acquisition, where the learning and execution of coordinated motor skills is substantially below that expected given the individual's chronological age. Difficulties may present as clumsiness, slowness and inaccuracy of performance of motor skills (e.g., catching objects, using cutlery, handwriting, riding a bike, use of tools or participating in team sports or swimming). It is often accompanied by difficulty with organisation and/or problems with attention, working memory and time management.
  
  A diagnosis of DCD is reached only in the absence of other neurological impairments such as cerebral palsy, multiple sclerosis, or Parkinson's disease. The condition is lifelong and its onset is in early childhood. It is thought to affect about 5% of the population. Occupational therapy can help people with dyspraxia to develop their coordination and achieve things that they might otherwise find extremely challenging to accomplish. Dyspraxia has nothing to do with intelligence but people with dyspraxia may struggle with self-esteem because their peers can easily do things they struggle with on a daily basis. Dyspraxia is not often known as a disability in the general public. (Full article...)
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  The New England Journal of Medicine (NEJM) is a weekly medical journal published by the Massachusetts Medical Society. Founded in 1812, the journal is among the most prestigious peer-reviewed medical journals. Its 2023 impact factor was 96.2, ranking it 2nd out of 168 journals in the category "Medicine, General & Internal". (Full article...)
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  People with schizoid personality disorder often prefer solitary activities.

  
  Schizoid personality disorder (/ˈskɪtsɔɪd, ˈskɪdzɔɪd, ˈskɪzɔɪd/, often abbreviated as SzPD or ScPD) is a personality disorder characterized by a lack of interest in social relationships, a tendency toward a solitary or sheltered lifestyle, secretiveness, emotional coldness, detachment, and apathy. Affected individuals may be unable to form intimate attachments to others and simultaneously possess a rich and elaborate but exclusively internal fantasy world. Other associated features include stilted speech, a lack of deriving enjoyment from most activities, feeling as though one is an "observer" rather than a participant in life, an inability to tolerate emotional expectations of others, apparent indifference when praised or criticized, being on the asexual spectrum, and idiosyncratic moral or political beliefs.
  
  Symptoms typically start in late childhood or adolescence. The cause of SzPD is uncertain, but there is some evidence of links and shared genetic risk between SzPD, other cluster A personality disorders, and schizophrenia. Thus, SzPD is considered to be a "schizophrenia-like personality disorder". It is diagnosed by clinical observation, and it can be very difficult to distinguish SzPD from other mental disorders or conditions (such as autism spectrum disorder, with which it may sometimes overlap). (Full article...)
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  Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterised by 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.
  
  Impairments resulting from deficits in self-regulation such as time management, inhibition, task initiation, and sustained attention can include poor professional performance, relationship difficulties, and numerous health risks, collectively predisposing to a diminished quality of life and a reduction in life expectancy. As a consequence, the disorder costs society hundreds of billions of US dollars each year, worldwide. It is associated with other 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 behavioral profile characterized by an intense resistance to complying with requests or expectations and extreme efforts to avoid social demands. As it is not recognized as an independent syndrome, and contested, PDA is not included in criteria or diagnoses listed in the Diagnostic and Statistical Manual of Mental Disorders. It is suggested by proponents that any expectation or activity, such as brushing teeth or 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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  PLOS 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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  Major brain structures implicated in autism

  
  Classic autism—also known as childhood autism, autistic disorder, or Kanner's syndrome—is a formerly diagnosed neurodevelopmental disorder first described by Leo Kanner in 1943. It is characterized by atypical and impaired development in social interaction and communication as well as restricted and repetitive behaviors, activities, and interests. These symptoms first appear in early childhood and persist throughout life.
  
  
  Classic autism 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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  Echolalia is the 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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  The four components of the OCD cycle

  
  Obsessive–compulsive disorder (OCD) is a mental disorder in which an individual has intrusive thoughts (an obsession) and feels the need to perform certain routines (compulsions) repeatedly to relieve the distress caused by the obsession, to the extent where it impairs general function.
  
  Obsessions are persistent unwanted thoughts, mental images, or urges that generate feelings of anxiety, disgust, or discomfort. Some common obsessions include fear of contamination, obsession with symmetry, the fear of acting blasphemously, sexual obsessions, and the fear of possibly harming others or themselves. Compulsions are repeated actions or routines that occur in response to obsessions to achieve a relief from anxiety. Common compulsions include excessive hand washing, cleaning, counting, ordering, repeating, avoiding triggers, hoarding, neutralizing, seeking assurance, praying, and checking things. OCD can also manifest exclusively through mental compulsions, such as mental avoidance and excessive rumination. This manifestation is sometimes referred to as primarily obsessional obsessive–compulsive disorder. (Full article...)
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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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Selected images

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  An autistic boy works with a behavioral therapist to identify the letters A and B as part of a therapy program. (from Autism)
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  Hundreds of different genes are implicated in the likelihood of being autistic, most of which influence the brain structure in a similar way. (from Autism)
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  Graphic illustrating the double empathy problem. (from Autism)
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  Euler diagram showing overlapping clinical phenotypes in genes associated with monogenic forms of autism, dystonia, epilepsy and schizophrenia:

    Genes associated with epilepsy

    Genes associated with schizophrenia

    Genes associated with autism

    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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  A young autistic boy who has arranged his toys in a row (from Autism)
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  In 2021, Swedish climate activist Greta Thunberg likened her autism to a "superpower", crediting her success to her focused interests. (from Autism)

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