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Introduction
Autism, also called autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental disorder marked by restricted and repetitive patterns of behavior and deficits in reciprocal social communication. Other common signs include perseverative interests, stereotypic body movements (stimming), rigid routines, hyper- or hyporeactivity to sensory input, and difficulty with social interaction and verbal and nonverbal communication. Autism is clinically regarded as a spectrum disorder, meaning that it can manifest very differently in each person. For example, some are nonspeaking, while others have proficient spoken language. Because of this, there is wide variation in the support needs of people across the autism spectrum.
Psychiatry has traditionally classified autism as a mental disorder, but the autism rights movement (and an increasing number of researchers) see autistic people with low support needs as a part of humanity's natural neurodiversity. From this point of view, autistic people may also be diagnosed with a disability of some sort, but that disability may be rooted in the systemic structures of a society rather than in the person; thus, proponents argue that autistic people should be accommodated rather than cured. The neurodiversity perspective has led to significant controversy among those who are autistic and advocates, practitioners, and charities. (Full article...)
Selected general articles
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Image 1Comprehensive 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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Image 2Pathological demand avoidance (PDA) or extreme demand avoidance (EDA) is a proposed disorder, and sub-type of autism spectrum disorder, defined by characteristics such as a demand avoidance—which is a greater-than-typical refusal to comply with requests or expectations—and extreme efforts to avoid social demands. Any expectation, even routine activities, such as brushing teeth, or highly desired activities, such as getting ready to leave home to visit a playground, can trigger avoidant behavior. If the demand cannot be avoided, a panic attack or a meltdown may ensue. Depending on an individual's trigger, the intensity of their reactions may differ. Looking at a PDA profile can help determine explanations for the demand avoidance, whether it is internalized or externalized. (Full article...)
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Image 3Autism 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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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...) -
Image 5Mast cell activation syndrome (MCAS) is a term referring to one of two types of mast cell activation disorder (MCAD); the other type is idiopathic MCAD. MCAS is an immunological condition in which mast cells inappropriately and excessively release chemical mediators, resulting in a range of chronic symptoms, sometimes including anaphylaxis or near-anaphylaxis attacks. Primary symptoms include cardiovascular, dermatological, gastrointestinal, neurological and respiratory problems.
MCAS is an umbrella term that describes a set of symptoms; it is not a specific diagnosis. Multiple diagnostic schemes for MCAS have been proposed. MCAS has often been misdiagnosed, especially as medical professionals and patients don’t understand that symptoms can wax or wane, and it can be a seemingly slow buildup with symptoms occurring in multiple organ systems before anaphylaxis type episodes; many healthcare providers are not trained to recognize its symptoms nor know much about what to do with it; after all, it was only in 2010 that diagnostic criteria was formalized. (Full article...) -
Image 6Classification is a broad concept that comprises the process of classifying, the set of groups resulting from classifying, and the assignment of elements to pre-established groups. Classifying is a fundamental concept and a part of almost all kinds of activities. Classification itself is an interdisciplinary field of study, with contributing disciplines including philosophy, biology, knowledge organization, psychology, statistics, and mathematics. (Full article...)
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Image 7Inborn 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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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 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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Sensory processing disorder (SPD, formerly known as sensory integration dysfunction) is a condition in which multisensory input is not adequately processed in order to provide appropriate responses to the demands of the environment. Sensory processing disorder is present in many people with dyspraxia, autism spectrum disorder and attention deficit hyperactivity disorder. Individuals with SPD may inadequately process visual, auditory, olfactory (smell), gustatory (taste), tactile (touch), vestibular (balance), proprioception (body awareness), and interoception (internal body senses) sensory stimuli.
Sensory integration was defined by occupational therapist Anna Jean Ayres in 1972 as "the neurological process that organizes sensation from one's own body and from the environment and makes it possible to use the body effectively within the environment". Sensory processing disorder has been characterized as the source of significant problems in organizing sensation coming from the body and the environment and is manifested by difficulties in the performance in one or more of the main areas of life: productivity, leisure and play or activities of daily living. (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...) -
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Depression is a mental state of low mood and aversion to activity. It affects more than 280 million people of all ages (about 3.5% of the global population). Depression affects a person's thoughts, behavior, feelings, and sense of well-being. Depressed people often experience loss of motivation or interest in, or reduced pleasure or joy from, experiences that would normally bring them pleasure or joy.
Depressed mood is a symptom of some mood disorders such as major depressive disorder and dysthymia; it is a normal temporary reaction to life events, such as the loss of a loved one; and it is also a symptom of some physical diseases and a side effect of some drugs and medical treatments.
It may feature sadness, difficulty in thinking and concentration and a significant increase or decrease in appetite and time spent sleeping. People experiencing depression may have feelings of dejection or hopelessness and may experience suicidal thoughts. It can either be short term or long term. (Full article...) -
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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...) -
Image 14PLOS 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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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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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...) -
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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 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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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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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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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 22The 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 23In physiology, nociception (/ˌnəʊsɪˈsɛpʃ(ə)n/), also nocioception; from Latin nocere 'to harm/hurt') is the sensory nervous system's process of encoding noxious stimuli. It deals with a series of events and processes required for an organism to receive a painful stimulus, convert it to a molecular signal, and recognize and characterize the signal to trigger an appropriate defensive response.
In nociception, intense chemical (e.g., capsaicin present in chili pepper or cayenne pepper), mechanical (e.g., cutting, crushing), or thermal (heat and cold) stimulation of sensory neurons called nociceptors produces a signal that travels along a chain of nerve fibers via the spinal cord to the brain. Nociception triggers a variety of physiological and behavioral responses to protect the organism against an aggression, and usually results in a subjective experience, or perception, of pain in sentient beings. (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 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 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...) -
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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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Selected images
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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 4An 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 5Reports 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 7Hundreds 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 8A young autistic boy who has arranged his toys in a row (from Autism)
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Image 10Euler 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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