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Introduction
Autism, formally called autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental disorder marked by deficits in reciprocal social communication, and the presence of restricted and repetitive patterns of behavior. Other common signs include difficulties with social interaction, verbal and nonverbal communication, perseverative interests, stereotypic body movements (stimming), rigid routines, and hyper- or hyporeactivity to sensory input. 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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Image 1The 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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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 3A 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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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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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...) -
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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 a 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 by scratching, 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 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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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...) -
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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...) -
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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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 11Mast 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; most doctors 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 12Inborn 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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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 14The 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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Schizophrenia is a mental disorder characterized by reoccurring episodes of psychosis that are correlated with a general misperception of reality. Other common signs include hallucinations (typically hearing voices), delusions (i.e., paranoia), disorganized thinking and behavior, social withdrawal, and flat 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 substance use disorders, depressive 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...) -
Image 16Special 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 17Although 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 18PLOS 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 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...) -
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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...) -
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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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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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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 24Comprehensive 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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Image 1An 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 spectrum)
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Image 5A young autistic boy who has arranged his toys in a row (from Autism spectrum)
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Image 6Reports 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 spectrum)
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Image 8The puzzle piece symbol as used in the autism awareness ribbon used by Autism Speaks (from Autism spectrum)
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Image 9Hundreds of different genes are implicated in susceptibility to developing autism, most of which alter the brain structure in a similar way. (from Autism spectrum)
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