Based on combination of clinical observation of behavior and development and comprehensive diagnostic testing completed by a team of qualified professionals (including psychiatrists, clinical psychologists, neuropsychologists, pediatricians, and speech-language pathologists). For adults, the use of a patient's written and oral history of autistic traits becomes more important
There are many theories about what causes autism; it is highly heritable and mainly genetic, but many genes are involved, and environmental factors may also be relevant.[7] The syndrome frequently co-occurs with other conditions, including attention deficit hyperactivity disorder, epilepsy, and intellectual disability. Disagreements persist about what should be included as part of the diagnosis, whether there are meaningful subtypes of autism,[8] and the significance of autism-associated traits in the wider population.[9][10] The combination of broader criteria, increased awareness, and potentially increasing actual prevalence, has led to a trend of steadily increasing estimates of autism prevalence,[11] perpetuating the disproven myth that it is caused by vaccines.[12]
Psychiatry has traditionally classified autism as a mental disorder, but the autism rights movement and an increasing number of researchers see autism as part of neurodiversity, the natural diversity in human thinking and experience, with strengths, differences, and weaknesses.[13] From this point of view, autistic people often still have a disability, but need to be accommodated rather than cured.[14][15] This perspective has led to significant controversy among those who are autistic and advocates, practitioners, and charities.[16][17] As of 2023, consensus is growing among researchers of various empirical and theoretical positions that the established ASD criteria are ineffective to describe autism as a unitary biological entity, and that alternative research approaches should be encouraged.[18]
Before the DSM-5 (2013) and ICD-11 (2022) diagnostic manuals were adopted, what is now called ASD was found under the diagnostic category pervasive developmental disorder. The previous system relied on a set of closely related and overlapping diagnoses such as Asperger syndrome and Kanner syndrome. This created unclear boundaries between the terms, so for the DSM-5 and ICD-11, a spectrum approach was taken. The new system is also more restrictive, meaning fewer people now qualify for diagnosis.[25]
The DSM-5 and ICD-11 use different categorization tools to define this spectrum. DSM-5 uses a "level" system, which ranks how in need of support the patient is,[26] while the ICD-11 system has two axes, intellectual impairment and language impairment,[27] as these are seen as the most crucial factors.
Autism is currently defined as a highly variable neurodevelopmental disorder[28] that is generally thought to cover a broad and deep spectrum, manifesting very differently from one person to another. Some have high support needs, may be non-speaking, and experience developmental delays; this is more likely with other co-existing diagnoses. Others have relatively low support needs; they may have more typical speech-language and intellectual skills but atypical social/conversation skills, narrowly focused interests, and wordy, pedantic communication.[29] They may still require significant support in some areas of their lives. The spectrum model should not be understood as a continuum running from mild to severe, but instead means that autism can present very differently in each person.[30] How a person presents can depend on context, and may vary over time.[31]
While the DSM and ICD greatly influence each other, there are also differences. For example, Rett syndrome was included in ASD in the DSM-5, but in the ICD-11 it was excluded and placed in the chapter on Developmental Anomalies. The ICD and the DSM change over time, and there has been collaborative work toward a convergence of the two since 1980 (when DSM-III was published and ICD-9 was current), including more rigorous biological assessment—in place of historical experience—and a simplification of the classification system.[32][33][34][35]
As of 2023, empirical and theoretical research is leading to a growing consensus among researchers that the established ASD criteria are ineffective to describe autism as a unitary biological entity, and that alternative research approaches must be encouraged, such as going back to autism prototypes, exploring new causal models of autism, or developing transdiagnostic endophenotypes.[18] Proposed alternatives to the current disorder-focused spectrum model deconstruct autism into at least two separate phenomena: (1) a non-pathological spectrum of behavioral traits in the population,[36][37] and (2) the neuropathological burden of rare genetic mutations and environmental risk factors potentially leading to neurodevelopmental and psychological disorders,[36][37] (3) governed by an individual's cognitive ability to compensate.[36]
Autism spectrum disorder is characterised by persistent deficits in the ability to initiate and to sustain reciprocal social interaction and social communication, and by a range of restricted, repetitive, and inflexible patterns of behaviour, interests or activities that are clearly atypical or excessive for the individual's age and sociocultural context. The onset of the disorder occurs during the developmental period, typically in early childhood, but symptoms may not become fully manifest until later, when social demands exceed limited capacities. Deficits are sufficiently severe to cause impairment in personal, family, social, educational, occupational or other important areas of functioning and are usually a pervasive feature of the individual's functioning observable in all settings, although they may vary according to social, educational, or other context. Individuals along the spectrum exhibit a full range of intellectual functioning and language abilities.
— ICD-11, chapter 6, section A02
ICD-11 was produced by professionals from 55 countries out of the 90 involved and is the most widely used reference worldwide.
DSM
The American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, Text Revision (DSM-5-TR), released in 2022, is the current version of the DSM. It is the predominant mental health diagnostic system used in the United States and Canada, and is often used in Anglophone countries.
Its fifth edition, DSM-5, released in May 2013, was the first to define ASD as a single diagnosis,[40] which is still the case in the DSM-5-TR.[41] ASD encompasses previous diagnoses, including the four traditional diagnoses of autism—classic Kanner syndrome, Asperger syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified (PDD-NOS)—and the range of diagnoses that included the word "autism".[42] Rather than distinguishing among these diagnoses, the DSM-5 and DSM-5-TR adopt a dimensional approach with one diagnostic category for disorders that fall under the autism spectrum umbrella. Within that category, the DSM-5 and the DSM include a framework that differentiates each person by dimensions of symptom severity, as well as by associated features (i.e., the presence of other disorders or factors that likely contribute to the symptoms, other neurodevelopmental or mental disorders, intellectual disability, or language impairment).[41] The symptom domains are (a) social communication and (b) restricted, repetitive behaviors, and there is the option of specifying a separate severity—the negative effect of the symptoms on the person—for each domain, rather than just overall severity.[43] Before the DSM-5, the DSM separated social deficits and communication deficits into two domains.[44] Further, the DSM-5 changed to an onset age in the early developmental period, with a note that symptoms may manifest later when social demands exceed capabilities, rather than the previous, more restricted three years of age.[45] These changes remain in the DSM-5-TR.[41]
Common characteristics
Pre-diagnosis
For many autistic people, characteristics first appear during infancy or childhood and follow a steady course without remission (different developmental timelines are described in more detail below).[46] Autistic people may be severely impaired in some respects but average, or even superior, in others.[47][48][49]
Clinicians consider assessment for ASD when a patient shows:
regular difficulties in social interaction or communication
restricted or repetitive behaviors (often called "stimming")
resistance to changes or restricted interests
These features are typically assessed with the following, when appropriate:
problems in obtaining or sustaining employment or education
difficulties in initiating or sustaining social relationships
connections with mental health or learning disability services
a history of neurodevelopmental conditions (including learning disabilities and ADHD) or mental health conditions.[50][51]
There are many signs associated with autism; the presentation varies widely:[52][53]
Common signs for autism spectrum disorder
avoidance of eye-contact
little or no babbling as an infant
not showing interest in indicated objects
delayed language skills (e.g. having a smaller vocabulary than peers or difficulty expressing themselves in words)
reduced interest in other children or caretakers, possibly with more interest in objects
difficulty playing reciprocal games (e.g. peek-a-boo)
hyper- or hypo-sensitivity to or unusual response to the smell, texture, sound, taste, or appearance of things
resistance to changes in routine
repetitive, limited, or otherwise unusual usage of toys (e.g. lining up toys)
The broader autism phenotype (BAP) describes people who may not have ASD but do have autistic traits, such as avoiding eye contact and stimming.[54]
Social and communication skills
According to the medical model, autistic people experience social communications impairments. Until 2013, deficits in social function and communication were considered two separate symptom domains.[55] The current social communication domain criteria for autism diagnosis require people to have deficits across three social skills: social-emotional reciprocity, nonverbal communication, and developing and sustaining relationships.[41]
A deficit-based view predicts that autistic–autistic interaction would be less effective than autistic–non-autistic interactions or even non-functional.[56] But recent research has found that autistic–autistic interactions are as effective in information transfer as interactions between non-autistics are, and that communication breaks down only between autistics and non-autistics.[56][57] Also contrary to social cognitive deficit interpretations, recent research recorded similar social cognitive performances in autistic and non-autistic adults, with both of them rating autistic individuals less favorably than non-autistic individuals; however, autistic individuals showed more interest in engaging with autistic people than non-autistic people did, and learning of a person's ASD diagnosis did not influence their interest level.[58]
Thus, there has been a recent shift to acknowledge that autistic people may simply respond and behave differently than people without ASD.[59] So far, research has identified two unconventional features by which autistic people create shared understanding (intersubjectivity): "a generous assumption of common ground that, when understood, led to rapid rapport, and, when not understood, resulted in potentially disruptive utterances; and a low demand for coordination that ameliorated many challenges associated with disruptive turns."[57] Autistic interests, and thus conversational topics, seem to be largely driven by an intense interest in specific topics (monotropism).[60][61]
Historically, autistic children were said to be delayed in developing a theory of mind, and the empathizing–systemizing theory has argued that while autistic people have compassion (affective empathy) for others with similar presentation of symptoms, they have limited, though not necessarily absent, cognitive empathy.[62] This may present as social naïvety,[63] lower than average intuitive perception of the utility or meaning of body language, social reciprocity,[64] and/or social expectations, including the habitus, social cues, and/or some aspects of sarcasm,[65] which to some degree may also be due to comorbid alexithymia.[66] But recent research has increasingly questioned these findings, as the "double empathy problem" theory (2012) argues that there is a lack of mutual understanding and empathy between both neurotypical persons and autistic individuals.[67][68][69][70][71]
As communication is bidirectional,[72] research on communication difficulties has since also begun to study non-autistic behavior, with researcher Catherine Crompton writing in 2020 that non-autistic people "struggle to identify autistic mental states, identify autistic facial expressions, overestimate autistic egocentricity, and are less willing to socially interact with autistic people. Thus, although non-autistic people are generally characterised as socially skilled, these skills may not be functional, or effectively applied, when interacting with autistic people."[56] Any previously observed communication deficits of autistic people may thus have been constructed through a neurotypical bias in autism research, which has come to be scrutinized for "dehumanization, objectification, and stigmatization".[73] Recent research has proposed that autistics' lack of readability and a neurotypical lack of effort to interpret atypical signals may cause a negative interaction loop, increasingly driving both groups apart into two distinct groups with different social interaction styles.[72]
Differences in verbal communication begin to be noticeable in childhood, as many autistic children develop language skills at an uneven pace. Verbal communication may be delayed or never develop (nonverbal autism), while reading ability may be present before school age (hyperlexia).[74][75] Reduced joint attention seem to distinguish autistic from neurotypical infants.[76] Infants may show delayed onset of babbling, unusual gestures, diminished responsiveness, and vocal patterns that are not synchronized with the caregiver. In the second and third years, autistic children may have less frequent and less diverse babbling, consonants, words, and word combinations; their gestures are less often integrated with words. Autistic children are less likely to make requests or share experiences and more likely to simply repeat others' words (echolalia).[77] The CDC estimated in 2015 that around 40% of autistic children do not speak at all.[78] Autistic adults' verbal communication skills largely depend on when and how well speech is acquired during childhood.[74]
Autistic people display atypical nonverbal behaviors or show differences in nonverbal communication. They may make infrequent eye contact, even when called by name, or avoid it altogether. Autistic people often recognize fewer emotions and their meaning from others' facial expressions, and may not respond with facial expressions expected by their non-autistic peers.[79][75]Temple Grandin, an autistic woman involved in autism activism, described her inability to understand neurotypicals' social communication as leaving her feeling "like an anthropologist on Mars".[80] Autistic people struggle to understand the social context and subtext of neurotypical conversational or printed situations, and form different conclusions about the content.[81] Autistic people may not control the volume of their voice in different social settings.[82] At least half of autistic children have unusual prosody.[82]
What may look like self-involvement or indifference to non-autistic people stems from autistic differences in recognizing how other people have their own personalities, perspectives, and interests.[81][83] Most published research focuses on the interpersonal relationship difficulties between autistic people and their non-autistic counterparts and how to solve them through teaching neurotypical social skills, but newer research has also evaluated what autistic people want from friendships, such as a sense of belonging and good mental health.[84][85] Children with ASD are more frequently involved in bullying situations than their neurotypical peers, and predominantly experience bullying as victims rather than perpetrators or victim-perpetrators, especially after controlling for comorbid psychopathology.[86] Prioritizing dependability and intimacy in friendships during adolescence, coupled with lowered friendship quantity and quality, often lead to increased loneliness in autistic people.[87] As they progress through life, autistic people observe and form a model of social patterns, and develop coping mechanisms, referred to as "masking",[88][89] which has recently been found to come with psychological costs and a highly increased risk of suicidality.[72]
Restricted and repetitive behaviors
A young autistic boy who has arranged his toys in a row
ASD includes a wide variety of characteristics. Some of these include behavioral characteristics which widely range from slow development of social and learning skills to difficulties creating connections with other people. Autistic people may experience these challenges with forming connections due to anxiety or depression, which they are more likely to experience, and as a result isolate themselves.[90][medical citation needed]
Other behavioral characteristics include abnormal responses to sensations (such as sights, sounds, touch, taste and smell) and problems keeping a consistent speech rhythm. The latter problem influences social skills, leading to potential problems in understanding for interlocutors. Autistic people's behavioral characteristics typically influence development, language, and social competence. Their behavioral characteristics can be observed as perceptual disturbances, disturbances of development rate, relating, speech and language, and motility.[91]
The second core symptom of autism spectrum is a pattern of restricted and repetitive behaviors, activities, and interests. In order to be diagnosed with ASD under the DSM-5-TR, a person must have at least two of the following behaviors:[41][92]
An older autistic boy arranging brads on a cork coaster.Repetitive behaviors – Repetitive behaviors such as rocking, hand flapping, finger flicking, head banging, or repeating phrases or sounds.[93] These behaviors may occur constantly or only when the person gets stressed, anxious or upset. These behaviors are also known as stimming.
Resistance to change – A strict adherence to routines such as eating certain foods in a specific order or taking the same path to school every day.[93] The person may become distressed if there is a change or disruption to their routine.
Restricted interests – An excessive interest in a particular activity, topic, or hobby, and devoting all their attention to it. For example, young children might completely focus on things that spin and ignore everything else. Older children might try to learn everything about a single topic, such as the weather or sports, and perseverate or talk about it constantly.[93]
Sensory reactivity – An unusual reaction to certain sensory inputs, such as negative reaction to specific sounds or textures, fascination with lights or movements, or apparent indifference to pain or heat.[94]
Autistic people can display many forms of repetitive or restricted behavior, which the Repetitive Behavior Scale-Revised (RBS-R) categorizes as follows.[95]
Stereotyped behaviors: Repetitive movements, such as hand flapping, head rolling, or body rocking.
Compulsive behaviors: Time-consuming behaviors intended to reduce anxiety, that a person feels compelled to perform repeatedly or according to rigid rules, such as placing objects in a specific order, checking things, or handwashing.
Sameness: Resistance to change; for example, insisting that the furniture not be moved or refusing to be interrupted.
Ritualistic behavior: Unvarying pattern of daily activities, such as an unchanging menu or a dressing ritual. This is closely associated with sameness and an independent validation has suggested combining the two factors.[95]
Restricted interests: Interests or fixations that are abnormal in theme or intensity of focus, such as preoccupation with a single television program, toy, or game.
Self-injurious behaviors (SIB) are relatively common in autistic people, and can include head-banging, self-cutting, self-biting, and hair-pulling.[96] Some of these can result in serious injury or death.[96] Following are theories about the cause of self-injurious behavior in children with developmental delay, including autistic children:[97]
Frequency and/or continuation of self-injurious behavior can be influenced by environmental factors (e.g. reward in return for halting self-injurious behavior). This theory does not apply to younger children with autism. There is some evidence that frequency of self-injurious behavior can be reduced by removing or modifying environmental factors that reinforce the behavior.[97]: 10–12
Higher rates of self-injury are also noted in socially isolated people with autism. Studies have shown that socialization skills are related factors to self-injurious behavior for people with autism.[98]
Self-injury could be a response to modulate pain perception when chronic pain or other health problems that cause pain are present.[97]: 12–13
An abnormal basal ganglia connectivity may predispose to self-injurious behavior.[97]: 13
The suicide rate for verbal autistics is nine times that of the general population.[99]
Other features
Autistic people may have symptoms that do not contribute to the official diagnosis, but that can affect the person or the family.[100]
Some people with ASD show unusual or notable abilities, ranging from splinter skills (such as the memorization of trivia) to rare talents in mathematics, music, or artistic reproduction, which in exceptional cases are considered a part of the savant syndrome.[101][102][103] One study describes how some people with ASD show superior skills in perception and attention relative to the general population.[104]Sensory abnormalities are found in over 90% of autistic people, and are considered core features by some.[105]
More generally, autistic people tend to show a "spiky skills profile", with strong abilities in some areas contrasting with much weaker abilities in others.[106]
Differences between the previously recognized disorders under the autism spectrum are greater for under-responsivity (for example, walking into things) than for over-responsivity (for example, distress from loud noises) or for sensation seeking (for example, rhythmic movements).[107] An estimated 60–80% of autistic people have motor signs that include poor muscle tone, poor motor planning, and toe walking;[105][108] deficits in motor coordination are pervasive across ASD and are greater in autism proper.[109][110]
Pathological demand avoidance can occur. People with this set of autistic symptoms are more likely to refuse to do what is asked or expected of them, even to activities they enjoy.
Unusual or atypical eating behavior occurs in about three-quarters of children with ASD, to the extent that it was formerly a diagnostic indicator.[100] Selectivity is the most common problem, although eating rituals and food refusal also occur.[111]
Exactly what causes autism remains unknown.[112][113][114][115] It was long mostly presumed that there is a common cause at the genetic, cognitive, and neural levels for the social and non-social components of ASD's symptoms, described as a triad in the classic autism criteria.[116] But it is increasingly suspected that autism is instead a complex disorder whose core aspects have distinct causes that often cooccur.[116][117] It is unlikely that ASD has a single cause;[117] many risk factors identified in the research literature may contribute to ASD. These include genetics, prenatal and perinatal factors (meaning factors during pregnancy or very early infancy), neuroanatomical abnormalities, and environmental factors. It is possible to identify general factors, but much more difficult to pinpoint specific ones. Given the current state of knowledge, prediction can only be of a global nature and so requires the use of general markers.[clarification needed][118]
Biological subgroups
Research into causes has been hampered by the inability to identify biologically meaningful subgroups within the autistic population[119] and by the traditional boundaries between the disciplines of psychiatry, psychology, neurology and pediatrics.[120] Newer technologies such as fMRI and diffusion tensor imaging can help identify biologically relevant phenotypes (observable traits) that can be viewed on brain scans, to help further neurogenetic studies of autism;[121] one example is lowered activity in the fusiform face area of the brain, which is associated with impaired perception of people versus objects.[122] It has been proposed to classify autism using genetics as well as behavior.[123]
Autism spectrum disorder (ASD) can be classified into two categories: "syndromic autism" and "non-syndromic autism."
Syndromic autism refers to cases where ASD is one of the characteristics associated with a broader medical condition or syndrome, representing about 25% of ASD cases. The causes of syndromic autism are often known, and monogenic disorders account for approximately 5% of these cases.
Non-syndromic autism, also known as classic or idiopathic autism, represents the majority of cases, and its cause is typically polygenic and unknown.
Hundreds of different genes are implicated in susceptibility to developing autism,[124] most of which alter the brain structure in a similar way.
Autism has a strong genetic basis, although the genetics of autism are complex and it is unclear whether ASD is explained more by rare mutations with major effects, or by rare multi-gene interactions of common genetic variants.[125][126] Complexity arises due to interactions among multiple genes, the environment, and epigenetic factors which do not change DNA sequencing but are heritable and influence gene expression.[127] Many genes have been associated with autism through sequencing the genomes of affected people and their parents.[128] But most of the mutations that increase autism risk have not been identified. Typically, autism cannot be traced to a Mendelian (single-gene) mutation or to a single chromosome abnormality, and none of the genetic syndromes associated with ASD have been shown to selectively cause ASD.[125] Numerous genes have been found, with only small effects attributable to any particular gene.[125] Most loci individually explain less than 1% of cases of autism.[129] As of 2018[update], it appeared that between 74% and 93% of ASD risk is heritable.[92] After an older child is diagnosed with ASD, 7% to 20% of subsequent children are likely to be as well.[92] If parents have one autistic child, they have a 2% to 8% chance of having a second child who is autistic. If the autistic child is an identical twin, the other will be affected 36% to 95% of the time. A fraternal twin is affected up to 31% of the time.[medical citation needed] The large number of autistic people with unaffected family members may result from spontaneous structural variation, such as deletions, duplications or inversions in genetic material during meiosis.[130][131] Hence, a substantial fraction of autism cases may be traceable to genetic causes that are highly heritable but not inherited: that is, the mutation that causes the autism is not present in the parental genome.[132][verification needed]
As of 2018[update], understanding of genetic risk factors had shifted from a focus on a few alleles to an understanding that genetic involvement in ASD is probably diffuse, depending on a large number of variants, some of which are common and have a small effect, and some of which are rare and have a large effect. The most common gene disrupted with large effect rare variants appeared to be CHD8, but less than 0.5% of autistic people have such a mutation. The gene CHD8 encodes the protein chromodomain helicase DNA binding protein 8, which is a chromatin regulator enzyme that is essential during fetal development, CHD8 is an ATP dependent enzyme.[133][134][135] The protein contains an Snf2 helicase domain that is responsible for the hydrolysis of ATP to ADP.[135] CHD8 encodes for a DNA helicase that function as a transcription repressor by remodeling chromatin structure by altering the position of nucleosomes. CHD8 negatively regulates Wnt signaling. Wnt signaling is important in the vertebrate early development and morphogenesis. It is believed that CHD8 also recruits the linker histone H1 and causes the repression of β-catenin and p53 target genes.[133] The importance of CHD8 can be observed in studies where CHD8-knockout mice died after 5.5 embryonic days because of widespread p53 induced apoptosis. Some studies have determined the role of CHD8 in autism spectrum disorder (ASD). CHD8 expression significantly increases during human mid-fetal development.[133] The chromatin remodeling activity and its interaction with transcriptional regulators have shown to play an important role in ASD aetiology.[134] The developing mammalian brain has a conserved CHD8 target regions that are associated with ASD risk genes.[136] The knockdown of CHD8 in human neural stem cells results in dysregulation of ASD risk genes that are targeted by CHD8.[137] Recently CD8 has been associated to the regulation of long non-coding RNAs (lncRNAs),[138] and the regulation of X chromosome inactivation (XCI) initiation, via regulation of Xist long non-coding RNA,[ambiguous] the master regulator of XCI,[ambiguous] though competitive binding to Xist regulatory regions.[139]
Some ASD is associated with clearly genetic conditions, like fragile X syndrome, but only around 2% of autistic people have fragile X.[92] Hypotheses from evolutionary psychiatry suggest that these genes persist because they are linked to human inventiveness, intelligence or systemising.[140][141]
Current research suggests that genes that increase susceptibility to ASD are ones that control protein synthesis in neuronal cells in response to cell needs, activity and adhesion of neuronal cells, synapse formation and remodeling, and excitatory to inhibitory neurotransmitter balance. Therefore, although up to 1,000 different genes are thought to increase the risk of ASD, all of them eventually affect normal neural development and connectivity between different functional areas of the brain in a similar manner that is characteristic of an ASD brain. Some of these genes are known to modulate production of the GABA neurotransmitter, the nervous system's main inhibitory neurotransmitter. These GABA-related genes are under-expressed in an ASD brain. On the other hand, genes controlling expression of glial and immune cells in the brain, e.g. astrocytes and microglia, respectively, are over-expressed, which correlates with increased number of glial and immune cells found in postmortem ASD brains. Some genes under investigation in ASD pathophysiology are those that affect the mTOR signaling pathway, which supports cell growth and survival.[142]
All these genetic variants contribute to the development of the autism spectrum, but it cannot be guaranteed that they are determinants for the development.[143]
ASD may be under-diagnosed in women and girls due to an assumption that it is primarily a male condition,[144] but genetic phenomena such as imprinting and X linkage have the ability to raise the frequency and severity of conditions in males, and theories have been put forward for a genetic reason why males are diagnosed more often, such as the imprinted brain hypothesis and the extreme male brain theory.[145][146][147]
Early life
Several prenatal and perinatal complications have been reported as possible risk factors for autism. These risk factors include maternal gestational diabetes, maternal and paternal age over 30, bleeding during pregnancy after the first trimester, use of certain prescription medication (e.g. valproate) during pregnancy, and meconium in the amniotic fluid. Research is not conclusive on the relation of these factors to autism, but each of them has been identified more frequently in children with autism compared to their siblings who do not have autism and other typically developing youth.[148] While it is unclear if any single factors during the prenatal phase affect the risk of autism,[149] complications during pregnancy may be a risk.[149]
There are also studies being done to test whether certain types of regressive autism have an autoimmune basis.[150]
Maternal nutrition and inflammation during preconception and pregnancy influences fetal neurodevelopment. Intrauterine growth restriction is associated with ASD, in both term and preterm infants.[151] Maternal inflammatory and autoimmune diseases may damage fetal tissues, aggravating a genetic problem or damaging the nervous system.[152]
Two versions of the vaccine causation hypothesis were that autism results from brain damage caused by either the MMR vaccine itself, or by mercury used as a vaccine preservative.[166] No convincing scientific evidence supports these claims.[12] They are biologically implausible,[160] and further evidence continues to refute them, including the observation that the rate of autism continues to climb despite elimination of thimerosal from most routine vaccines given to children from birth to 6 years of age.[167][168][169][170][171]
A 2014 meta-analysis examined ten major studies on autism and vaccines involving 1.25 million children worldwide; it concluded that neither the vaccine preservative thimerosal (mercury), nor the MMR vaccine, which has never contained thimerosal,[172] lead to the development of ASDs.[173] Despite this, misplaced parental concern has led to lower rates of childhood immunizations, outbreaks of previously controlled childhood diseases in some countries, and the preventable deaths of several children.[174][175]
Etiological hypotheses
Several hypotheses have been presented that try to explain how and why autism develops by integrating known causes (genetic and environmental effects) and findings (neurobiological and somatic). Some are more comprehensive, such as the Pathogenetic Triad, which proposes and operationalizes three core features (an autistic personality, cognitive compensation, neuropathological burden) that interact to cause autism,[176] and the Intense World Theory, which explains autism through a hyper-active neurobiology that leads to an increased perception, attention, memory, and emotionality.[177] There are also simpler hypotheses that explain only individual parts of the neurobiology or phenotype of autism, such as mind-blindness (a decreased ability for theory of mind), the weak central coherence theory, or the extreme male brain and empathising–systemising theory.
Research exploring the evolutionary benefits of autism and associated genes has suggested that autistic people may have played a "unique role in technological spheres and understanding of natural systems" in the course of human development.[178][179] It has been suggested that it may have arisen as "a slight trade off for other traits that are seen as highly advantageous", providing "advantages in tool making and mechanical thinking", with speculation that the condition may "reveal itself to be the result of a balanced polymorphism, like sickle cell anemia, that is advantageous in a certain mixture of genes and disadvantageous in specific combinations".[180]
In 2011, a paper in Evolutionary Psychology proposed that autistic traits, including increased abilities for spatial intelligence, concentration and memory, could have been naturally selected to enable self-sufficient foraging in a more (although not completely) solitary environment, referred to as the "Solitary Forager Hypothesis".[181][182][183] A 2016 paper examines Asperger syndrome as "an alternative prosocial adaptive strategy" which may have developed as a result of the emergence of "collaborative morality" in the context of small-scale hunter-gathering, i.e. where "a positive social reputation for making a contribution to group wellbeing and survival" becomes more important than complex social understanding.[184]
Conversely, some multidisciplinary research suggests that recent human evolution may be a driving force in the rise of a number of medical conditions in recent human populations, including autism. Studies in evolutionary medicine indicate that as biological evolution becomes outpaced by cultural evolution, disorders linked to bodily dysfunction increase in prevalence due to a lack of contact with pathogens and negative environmental conditions that once widely affected ancestral populations. Because natural selection primarily favors reproduction over health and longevity, the lack of this impetus to adapt to certain harmful circumstances creates a tendency for genes in descendant populations to over-express themselves, which may cause a wide array of maladies, ranging from mental disorders to autoimmune diseases.[185]
Autism is correlated or comorbid with several personality traits/disorders.[122]Comorbidity may increase with age and may worsen the course of youth with ASDs and make intervention and treatment more difficult. Distinguishing between ASDs and other diagnoses can be challenging because the traits of ASDs often overlap with symptoms of other disorders, and the characteristics of ASDs make traditional diagnostic procedures difficult.[186][187]
Correlations
Research indicates that autistic people are significantly more likely to be LGBT than the general population.[188] There is tentative evidence that gender dysphoria occurs more frequently in autistic people.[189][190] A 2021 anonymized online survey of 16- to 90-year-olds revealed that autistic males are more likely to identify as bisexual than their non-autistic peers, while autistic females are more likely to identify as homosexual than non-autistic females do.[191]
People on the autism spectrum are significantly more likely to be non-theistic than members of the general population.[192]
Comorbidities
The most common medical condition occurring in people with ASDs is seizure disorder or epilepsy, which occurs in 11–39% of autistic people.[193] The risk varies with age, cognitive level, and type of language disorder.[194]
Tuberous sclerosis, an autosomal dominant genetic condition in which non-malignant tumors grow in the brain and on other vital organs, is present in 1–4% of people with ASDs.[195]
Intellectual disabilities are some of the most common comorbid disorders with ASDs. As diagnosis is increasingly being given to people with higher functioning autism, there is a tendency for the proportion with comorbid intellectual disability to decrease over time. In a 2019 study, it was estimated that approximately 30-40% of people diagnosed with ASD also have intellectual disability.[196] Recent research has suggested that autistic people with intellectual disability tend to have rarer, more harmful, genetic mutations than those found in people solely diagnosed with autism.[197] A number of genetic syndromes causing intellectual disability may also be comorbid with ASD, including fragile X, Down, Prader-Willi, Angelman, Williams syndrome,[198]branched-chain keto acid dehydrogenase kinase deficiency,[199][200] and SYNGAP1-related intellectual disability.[201][202]
Learning disabilities are also highly comorbid in people with an ASD. Approximately 25–75% of people with an ASD also have some degree of a learning disability.[203]
Various anxiety disorders tend to co-occur with ASDs, with overall comorbidity rates of 7–84%.[204] They are common among children with ASD; there are no firm data, but studies have reported prevalences ranging from 11% to 84%. Many anxiety disorders have symptoms that are better explained by ASD itself, or are hard to distinguish from ASD's symptoms.[205]
Rates of comorbid depression in people with an ASD range from 4–58%.[206]
The relationship between ASD and schizophrenia remains a controversial subject under continued investigation, and recent meta-analyses have examined genetic, environmental, infectious, and immune risk factors that may be shared between the two conditions.[207][208][209]Oxidative stress, DNA damage and DNA repair have been postulated to play a role in the aetiopathology of both ASD and schizophrenia.[210]
Deficits in ASD are often linked to behavior problems, such as difficulties following directions, being cooperative, and doing things on other people's terms.[211] Symptoms similar to those of attention deficit hyperactivity disorder (ADHD) can be part of an ASD diagnosis.[212]
Starting in adolescence, some people with Asperger syndrome (26% in one sample)[214] fall under the criteria for the similar condition schizoid personality disorder, which is characterized by a lack of interest in social relationships, a tendency towards a solitary or sheltered lifestyle, secretiveness, emotional coldness, detachment and apathy.[214][215][216] Asperger syndrome was traditionally called "schizoid disorder of childhood."
Gastrointestinal problems are one of the most commonly co-occurring medical conditions in autistic people.[219] These are linked to greater social impairment, irritability, language impairments, mood changes, and behavior and sleep problems.[219][220][221] A 2015 review proposed that immune, gastrointestinal inflammation, malfunction of the autonomic nervous system, gut flora alterations, and food metabolites may cause brain neuroinflammation and dysfunction.[220] A 2016 review concludes that enteric nervous system abnormalities might play a role in neurological disorders such as autism. Neural connections and the immune system are a pathway that may allow diseases originated in the intestine to spread to the brain.[221]
Sleep problems affect about two-thirds of people with ASD at some point in childhood. These most commonly include symptoms of insomnia, such as difficulty falling asleep, frequent nocturnal awakenings, and early morning awakenings. Sleep problems are associated with difficult behaviors and family stress, and are often a focus of clinical attention over and above the primary ASD diagnosis.[222]
Dysautonomia is common in ASD, affecting heart rate and blood pressure and causing symptoms such as brain fog, blurry vision, and bowel dysfunction.[223] It can be diagnosed through a Tilt table test.[224]
The frequency of ASD is 10 times higher in Mast cell activation syndrome patients than in the general population. This immunological condition causes cardiovascular, dermatological, gastrointestinal, neurological, and respiratory problems.[225]
There is no treatment as such for autism,[226] and many sources advise that this is not an appropriate goal,[227][228] although treatment of co-occurring conditions remains an important goal.[229] There is no cure for autism as of 2024, nor can any of the known treatments significantly reduce brain mutations caused by autism, although those who require little to no support are more likely to experience a lessening of symptoms over time.[230][231][232] Several interventions can help children with autism,[233] and no single treatment is best, with treatment typically tailored to the child's needs.[234] Studies of interventions have methodological problems that prevent definitive conclusions about efficacy,[235] but the development of evidence-based interventions has advanced.[236]
The main goals of treatment are to lessen associated deficits and family distress, and to increase quality of life and functional independence. In general, higher IQs are correlated with greater responsiveness to treatment and improved treatment outcomes.[237][19] Behavioral, psychological, education, and/or skill-building interventions may be used to assist autistic people to learn life skills necessary for living independently,[238] as well as other social, communication, and language skills. Therapy also aims to reduce challenging behaviors and build upon strengths.[239]
Intensive, sustained special education programs and behavior therapy early in life may help children acquire self-care, language, and job skills.[234] Although evidence-based interventions for autistic children vary in their methods, many adopt a psychoeducational approach to enhancing cognitive, communication, and social skills while minimizing problem behaviors. While medications have not been found to help with core symptoms, they may be used for associated symptoms, such as irritability, inattention, or repetitive behavior patterns.[240]
Non-pharmacological interventions
Intensive, sustained special education or remedial education programs and behavior therapy early in life may help children acquire self-care, social, and job skills. Available approaches include applied behavior analysis, developmental models, structured teaching, speech and language therapy, cognitive behavioral therapy,[241]social skills therapy, and occupational therapy.[242] Among these approaches, interventions either treat autistic features comprehensively, or focus treatment on a specific area of deficit.[19] Generally, when educating those with autism, specific tactics may be used to effectively relay information to these people. Using as much social interaction as possible is key in targeting the inhibition autistic people experience concerning person-to-person contact. Additionally, research has shown that employing semantic groupings, which involves assigning words to typical conceptual categories, can be beneficial in fostering learning.[243]
There has been increasing attention to the development of evidence-based interventions for autistic young children. Three theoretical frameworks outlined for early childhood intervention include applied behavior analysis (ABA), the developmental social-pragmatic model (DSP) and cognitive behavioral therapy (CBT).[241][19] Although ABA therapy has a strong evidence base, particularly in regard to early intensive home-based therapy, ABA's effectiveness may be limited by diagnostic severity and IQ of the person affected by ASD.[244] The Journal of Clinical Child and Adolescent Psychology has published a paper deeming two early childhood interventions "well-established": individual comprehensive ABA, and focused teacher-implemented ABA combined with DSP.[19]
Another evidence-based intervention that has demonstrated efficacy is a parent training model, which teaches parents how to implement various ABA and DSP techniques themselves.[19] Various DSP programs have been developed to explicitly deliver intervention systems through at-home parent implementation.
In October 2015, the American Academy of Pediatrics (AAP) proposed new evidence-based recommendations for early interventions in ASD for children under 3.[245] These recommendations emphasize early involvement with both developmental and behavioral methods, support by and for parents and caregivers, and a focus on both the core and associated symptoms of ASD.[245] But a Cochrane review found no evidence that early intensive behavioral intervention (EIBI) is effective in reducing behavioral problems associated with autism in most autistic children, though it did improve IQ and language skills.[246] The Cochrane review acknowledged that this may be due to the low quality of studies available on EIBI and therefore providers should recommend EIBI based on their clinical judgment and the family's preferences.[246] No adverse effects of EIBI treatment were found.[246] A meta-analysis in that same database indicates that due to the heterology in ASD, children progress to differing early intervention modalities based on ABA.[20]
ASD treatment generally focuses on behavioral and educational interventions to target its two core symptoms: social communication deficits and restricted, repetitive behaviors.[247] If symptoms continue after behavioral strategies have been implemented, some medications can be recommended to target specific symptoms or co-existing problems such as restricted and repetitive behaviors (RRBs), anxiety, depression, hyperactivity/inattention and sleep disturbance.[247]Melatonin, for example, can be used for sleep problems.[248]
Several parent-mediated behavioral therapies target social communication deficits in children with autism, but their efficacy in treating RRBs is uncertain.[249]
Education
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.[250]
Educational interventions often used include applied behavior analysis (ABA), developmental models, structured teaching, speech and language therapy and social skills therapy.[234] Among these approaches, interventions either treat autistic features comprehensively, or focalize treatment on a specific area of deficit.[236]
The quality of research for early intensive behavioral intervention (EIBI)—a treatment procedure incorporating over thirty hours per week of the structured type of ABA that is carried out with very young children—is low; more vigorous research designs with larger sample sizes are needed.[246] Two theoretical frameworks outlined for early childhood intervention include structured and naturalistic ABA interventions, and developmental social pragmatic models (DSP).[236] One interventional strategy utilizes a parent training model, which teaches parents how to implement various ABA and DSP techniques, allowing for parents to disseminate interventions themselves.[236] Various DSP programs have been developed to explicitly deliver intervention systems through at-home parent implementation. Despite the recent development of parent training models, these interventions have demonstrated effectiveness in numerous studies, being evaluated as a probable efficacious mode of treatment.[236]Early, intensive ABA therapy has demonstrated effectiveness in enhancing communication and adaptive functioning in preschool children;[234][251] it is also well-established for improving the intellectual performance of that age group.[234]
In 2018, a Cochrane meta-analysis database concluded that some recent research is beginning to suggest that because of the heterology of ASD, there are two different ABA teaching approaches to acquiring spoken language: children with higher receptive language skills respond to the naturalistic approach, whereas children with lower receptive language skills require discrete trial training—the structured and intensive form of ABA.[20] A 2023 semi-randomized control trial study of 168 participants showed similar findings.[21]
Similarly, a teacher-implemented intervention that utilizes a more naturalistic form of ABA combined with a developmental social pragmatic approach has been found to be beneficial in improving social-communication skills in young children, although there is less evidence in its treatment of global symptoms.[236] Neuropsychological reports are often poorly communicated to educators, resulting in a gap between what a report recommends and what education is provided.[252] The appropriateness of including children with varying severity of autism spectrum disorders in the general education population is a subject of current debate among educators and researchers.[253]
Pharmacological interventions
Medications may be used to treat ASD symptoms that interfere with integrating a child into home or school when behavioral treatment fails.[254] They may also be used for associated health problems, such as ADHD, anxiety, or if the person is hurting themself or aggressive with others,[254][255] but their routine prescription for ASD's core features is not recommended.[256] More than half of US children diagnosed with ASD are prescribed psychoactive drugs or anticonvulsants, with the most common drug classes being antidepressants, stimulants, and antipsychotics.[257][258] The atypical antipsychotic drugs risperidone and aripiprazole are FDA-approved for treating associated aggressive and self-injurious behaviors.[240][259] But their side effects must be weighed against their potential benefits, and autistic people may respond atypically.[240] Side effects may include weight gain, tiredness, drooling, and aggression.[240] Some emerging data show positive effects of aripiprazole and risperidone on restricted and repetitive behaviors (i.e., stimming; e.g., flapping, twisting, complex whole-body movements),[256] but due to the small sample size and different focus of these studies and the concerns about its side effects, antipsychotics are not recommended as primary treatment of RRBs.[260]SSRI antidepressants, such as fluoxetine and fluvoxamine, have been shown to be effective in reducing repetitive and ritualistic behaviors, while the stimulant medication methylphenidate is beneficial for some children with co-morbid inattentiveness or hyperactivity.[234] There is scant reliable research about the effectiveness or safety of drug treatments for adolescents and adults with ASD.[261] No known medication relieves autism's core symptoms of social and communication impairments.[240]
Alternative medicine
A multitude of alternative therapies have been researched and implemented. Many have resulted in harm to autistic people.[242] A 2020 systematic review on adults with autism provided evidence that mindfulness-based interventions may decrease stress, anxiety, ruminating thoughts, anger, and aggression and improve mental health.[262]
Although popularly used as an alternative treatment for autistic people, as of 2018[update] there is no good evidence to recommend a gluten- and casein-free diet as a standard treatment.[263][264][265] A 2018 review concluded that it may be a therapeutic option for specific groups of children with autism, such as those with known food intolerances or allergies, or with food intolerance markers. The authors analyzed the prospective trials conducted to date that studied the efficacy of the gluten- and casein-free diet in children with ASD (4 in total). All of them compared gluten- and casein-free diet versus normal diet with a control group (2 double-blind randomized controlled trials, 1 double-blind crossover trial, 1 single-blind trial). In two of the studies, whose duration was 12 and 24 months, a significant improvement in ASD symptoms (efficacy rate 50%) was identified. In the other two studies, whose duration was 3 months, no significant effect was observed.[263] The authors concluded that a longer duration of the diet may be necessary to achieve the improvement of the ASD symptoms.[263] Other problems documented in the trials carried out include transgressions of the diet, small sample size, the heterogeneity of the participants and the possibility of a placebo effect.[265][266][267] In the subset of people who have gluten sensitivity there is limited evidence that suggests that a gluten-free diet may improve some autistic behaviors.[268][269][270]
The preference that autistic children have for unconventional foods can lead to reduction in bone cortical thickness with this risk being greater in those on casein-free diets, as a consequence of the low intake of calcium and vitamin D; however, suboptimal bone development in ASD has also been associated with lack of exercise and gastrointestinal disorders.[271] In 2005, botched chelation therapy killed a five-year-old child with autism.[272][273] Chelation is not recommended for autistic people since the associated risks outweigh any potential benefits.[274] Another alternative medicine practice with no evidence is CEASE therapy, a pseudoscientific mixture of homeopathy, supplements, and "vaccine detoxing".[275]
Results of a systematic review on interventions to address health outcomes among autistic adults found emerging evidence to support mindfulness-based interventions for improving mental health. This includes decreasing stress, anxiety, ruminating thoughts, anger, and aggression.[276] An updated Cochrane review (2022) found evidence that music therapy likely improves social interactions, verbal communication, and nonverbal communication skills.[277] There has been early research on hyperbaric treatments in children with autism.[278] Studies on pet therapy have shown positive effects.[279]
There is no evidence of a cure for autism.[234][122] The degree of symptoms can decrease, occasionally to the extent that people lose their diagnosis of ASD;[282][283] this occurs sometimes after intensive treatment[284] and sometimes not. It is not known how often this outcome happens,[285] with reported rates in unselected samples ranging from 3% to 25%.[282][283] Although core difficulties tend to persist, symptoms often become less severe with age.[127] Acquiring language before age six, having an IQ above 50, and having a marketable skill all predict better outcomes; independent living is unlikely in autistic people with higher support needs.[286]
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.
The World Health Organization (WHO) estimates about 1 in 100 children had autism during the period from 2012 to 2021 as that was the average estimate in studies published during that period with a trend of increasing prevalence over time. However, the study's 1% figure may reflect an underestimate of prevalence in low- and middle-income countries.[5][287] The number of people diagnosed has increased considerably since the 1990s, which may be partly due to increased recognition of the condition.[288]
While rates of ASD are consistent across cultures, they vary greatly by gender, with boys diagnosed far more frequently than girls: 1 in 70 boys, but only 1 in 315 girls at eight years of age.[289] Girls, however, are more likely to have associated cognitive impairment, suggesting that less severe forms of ASD are likely being missed in girls and women.[290] Prevalence differences may be a result of gender differences in expression of clinical symptoms, with women and girls with autism showing less atypical behaviors and, therefore, less likely to receive an ASD diagnosis.[291]
Using DSM-5 criteria, 92% of the children diagnosed per DSM-IV with one of the disorders which is now considered part of ASD will still meet the diagnostic criteria of ASD. However, if both ASD and the social (pragmatic) communication disorder categories of DSM-5 are combined, the prevalence of autism is mostly unchanged from the prevalence per the DSM-IV criteria. The best estimate for prevalence of ASD is 0.7% or 1 child in 143 children.[292] Relatively mild forms of autism, such as Asperger's as well as other developmental disorders, are included in the DSM-5 diagnostic criteria.[293] ASD rates were constant between 2014 and 2016 but twice the rate compared to the time period between 2011 and 2014 (1.25 vs 2.47%). A Canadian meta-analysis from 2019 confirmed these effects as the profiles of people diagnosed with autism became less and less different from the profiles of the general population.[294] In the US, the rates for diagnosed ASD have been steadily increasing since 2000 when records began being kept.[295] While it remains unclear whether this trend represents a true rise in incidence, it likely reflects changes in ASD diagnostic criteria, improved detection, and increased public awareness of autism.[296] In 2012, the NHS estimated that the overall prevalence of autism among adults aged 18 years and over in the UK was 1.1%.[297] A 2016 survey in the United States reported a rate of 25 per 1,000 children for ASD.[298] Rates of autism are poorly understood in many low- and middle-income countries, which affects the accuracy of global ASD prevalence estimates,[299] but it is thought that most autistic people live in low- and middle-income countries.[300]
In 2020, the Centers for Disease Control's Autism and Developmental Disabilities Monitoring (ADDM) Network reported that approximately 1 in 54 children in the United States (1 in 34 boys, and 1 in 144 girls) is diagnosed with an autism spectrum disorder (ASD), based on data collected in 2016.[301][302] This estimate is a 10% increase from the 1 in 59 rate in 2014, a 105% increase from the 1 in 110 rate in 2006, and a 176% increase from the 1 in 150 rate in 2000.[301] Diagnostic criteria for ASD have changed significantly since the 1980s; for example, U.S. special-education autism classification was introduced in 1994.[155]
In the UK, from 1998 to 2018, the autism diagnoses increased by 787%.[288] This increase is largely attributable to changes in diagnostic practices, referral patterns, availability of services, age at diagnosis, and public awareness[303][304][305] (particularly among women),[288] though unidentified environmental risk factors cannot be ruled out.[306] The available evidence does not rule out the possibility that autism's true prevalence has increased;[303] a real increase would suggest directing more attention and funding toward psychosocial factors and changing environmental factors instead of continuing to focus on genetics.[307] It has been established that vaccination is not a risk factor for autism and is not a cause of any increase in autism prevalence rates, if any change in the rate of autism exists at all.[173]
Males have higher likelihood of being diagnosed with ASD than females. The sex ratio averages 4.3:1 and is greatly modified by cognitive impairment: it may be close to 2:1 with intellectual disability and more than 5.5:1 without.[155]Several theories about the higher prevalence in males have been investigated, but the cause of the difference is unconfirmed;[308] one theory is that females are underdiagnosed.[309]
The risk of developing autism is greater with older fathers than with older mothers; two potential explanations are the known increase in mutation burden in older sperm, and the hypothesis that men marry later if they carry genetic liability and show some signs of autism.[28] Most professionals believe that race, ethnicity, and socioeconomic background do not affect the occurrence of autism.[310]
Social-science scholars study those with autism in hopes to learn more about "autism as a culture, transcultural comparisons ... and research on social movements."[321] Many autistic people have been successful in their fields.[322]
Neurodiversity movement
Some autistic people, as well as a growing number of researchers,[13] have advocated a shift in attitudes toward the view that autism spectrum disorder is a difference, rather than a disease that must be treated or cured.[323][324] Critics have bemoaned the entrenchment of some of these groups' opinions.[325][326][327][328]
The neurodiversity movement and the autism rights movement are social movements within the context of disability rights, emphasizing the concept of neurodiversity, which describes the autism spectrum as a result of natural variations in the human brain rather than a disorder to be cured.[313][99] The autism rights movement advocates for including greater acceptance of autistic behaviors; therapies that focus on coping skills rather than imitating the behaviors of those without autism;[329] and the recognition of the autistic community as a minority group.[329][330]
Autism rights or neurodiversity advocates believe that the autism spectrum is genetic and should be accepted as a natural variation in the human genome.[313] These movements are not without detractors; a common argument against neurodiversity activists is that most of them have relatively low support needs, or are self-diagnosed, and do not represent the views of autistic people with higher support needs.[330][331][332] Jacquiline den Houting explores this critique, determining that the voices of low-support needs autistics are "some of the most influential within the neurodiversity movement, although admittedly these voices are a minority within the advocacy community"; she suggests this is in part a shortcoming of the wider neurotypical community, referencing non-speaking self-advocate Amy Sequenzia's writing.[333][334][undue weight? – discuss] Pier Jaarsma and Stellan Welin make the argument that only high-functioning autistic people should be included under the neurodiversity banner, as low-functioning autists' condition may rightfully be viewed as a disability.[335] The concept of neurodiversity is contentious in autism advocacy and research groups and has led to infighting.[336][337]
Symbols and flags
Over the years, multiple organizations have tried to capture the essence of autism in symbols. In 1963, the board for the National Autistic Society, led by Gerald Gasson, proposed the "puzzle piece" as a symbol for autism, because it fit their view of autism as a "puzzling condition".[338] In 1999, the Autism Society adopted the puzzle ribbon as the universal sign of autism awareness.[338] In 2004, neurodiversity advocates Amy and Gwen Nelson conjured the "rainbow infinity symbol". It was initially the logo for their website, Aspies for Freedom. Nowadays, the prismatic colors are often associated with the neurodiversity movement in general.[339] The autism spectrum has also been symbolized by the infinity symbol itself.[340] In 2018, Julian Morgan wrote the article "Light It Up Gold", a response to Autism Speaks's "Light It Up Blue" campaign, launched in 2007.[341][342]Aurum is Latin for gold,[339] and gold has been used to symbolize autism, since both words start with "Au". Though a consensus for a flag to unite autism and neurodiversity has not yet been established, one has gained traction on Reddit.[343] The flag implements a gradient to represent the Pride Movement and incorporates a golden infinity symbol as its focal point.[344] While flags are symbols of solidarity, they may trigger negative associations, such as apparent rivalry among two or more flags.[345] For this reason, flags are sought that can be tailored to the personal preferences of any neurotype.[346][347]
Families who care for an autistic child face added stress from a number of different causes.[348][349] Parents may struggle to understand the diagnosis and to find appropriate care options. They often take a negative view of the diagnosis, and may struggle emotionally.[350] More than half of parents over age 50 are still living with their child, as about 85% of autistic people have difficulties living independently.[351] Some studies also find decreased earnings among parents who care for autistic children.[352][353] Siblings of children with ASD report greater admiration and less conflict with the affected sibling than siblings of unaffected children, like siblings of children with Down syndrome. But they reported lower levels of closeness and intimacy than siblings of children with Down syndrome; siblings of people with ASD have a greater risk of negative well-being and poorer sibling relationships as adults.[354]
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autism, spectrum, autism, formally, called, autism, spectrum, disorder, autism, spectrum, condition, neurodevelopmental, disorder, marked, deficits, reciprocal, social, communication, presence, restricted, repetitive, patterns, behavior, other, common, signs, . Autism formally called autism spectrum disorder ASD or autism spectrum condition ASC 6 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 difficulty with social interaction verbal and nonverbal communication along with perseverative interests stereotypic body movements 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 Autism spectrum disorderOther namesAutism spectrum condition ASC autism Formerly Kanner syndrome autistic disorder childhood autism Asperger syndrome AS childhood disintegrative disorder CDD pervasive developmental disorder not otherwise specified PDD NOS Repetitively stacking or lining up objects is a common trait associated with autism SpecialtyPsychiatry clinical psychology pediatrics occupational medicineSymptomsDifficulties in social interaction verbal and nonverbal communication and the presence of repetitive behavior or restricted interestsComplicationsSocial isolation educational and employment problems 1 anxiety 1 stress 1 bullying depression 1 2 self harmOnsetEarly childhoodDurationLifelongCausesMultifactorial with many uncertain factorsRisk factorsFamily history certain genetic conditions having older parents certain prescribed drugs perinatal and neonatal health issuesDiagnostic methodBased on combination of clinical observation of behavior and development and comprehensive diagnostic testing completed by a team of qualified professionals including psychiatrists clinical psychologists neuropsychologists pediatricians and speech language pathologists For adults the use of a patient s written and oral history of autistic traits becomes more importantDifferential diagnosisIntellectual disability anxiety bipolar disorder depression Rett syndrome attention deficit hyperactivity disorder schizoid personality disorder selective mutism schizophrenia obsessive compulsive disorder social anxiety disorder Einstein syndrome PTSD 3 learning disorders mainly speech disorders ManagementApplied behavior analysis cognitive behavioral therapy occupational therapy psychotropic medication 4 speech language pathologyFrequencyOne in 100 people 1 worldwide 5 There are many theories about what causes autism it is highly heritable and mainly genetic but many genes are involved and environmental factors may also be relevant 7 The syndrome frequently co occurs with other conditions including attention deficit hyperactivity disorder epilepsy and intellectual disability Disagreements persist about what should be included as part of the diagnosis whether there are meaningful subtypes of autism 8 and the significance of autism associated traits in the wider population 9 10 The combination of broader criteria increased awareness and potentially increasing actual prevalence has led to a trend of steadily increasing estimates of autism prevalence 11 perpetuating the disproven myth that it is caused by vaccines 12 Psychiatry has traditionally classified autism as a mental disorder but the autism rights movement and an increasing number of researchers see autism as part of neurodiversity the natural diversity in human thinking and experience with strengths differences and weaknesses 13 From this point of view autistic people often still have a disability but need to be accommodated rather than cured 14 15 This perspective has led to significant controversy among those who are autistic and advocates practitioners and charities 16 17 As of 2023 consensus is growing among researchers of various empirical and theoretical positions that the established ASD criteria are ineffective to describe autism as a unitary biological entity and that alternative research approaches should be encouraged 18 It is not possible to cure autism Although early intervention services based on applied behavior analysis ABA can help children gain self care social and language skills 19 20 21 22 independent living is unlikely in more severe forms of the condition Speech and occupational therapy as well as implementing alternative modes of communication are effective adjunctive therapies but some in the autism rights movement consider ABA therapy unethical and unhelpful 23 Pharmacological treatments also may be useful the atypical antipsychotics risperidone and aripiprazole are empirically validated for alleviating co morbid irritability though these drugs tend to be associated with weight gain and sedation 24 Contents 1 Classification 1 1 Spectrum model 1 2 ICD 1 3 DSM 2 Common characteristics 2 1 Pre diagnosis 2 2 Broader autism phenotype 2 3 Social and communication skills 2 4 Restricted and repetitive behaviors 2 4 1 Self injury 2 5 Other features 3 Possible causes 3 1 Biological subgroups 3 1 1 Syndromic autism and non syndromic autism 3 2 Genetics 3 3 Early life 3 3 1 Disproven vaccine hypothesis 3 4 Etiological hypotheses 3 5 Evolutionary hypotheses 4 Pathophysiology 5 Diagnosis 6 Conditions correlated or comorbid to autism 6 1 Correlations 6 2 Comorbidities 7 Management 7 1 Non pharmacological interventions 7 1 1 Education 7 2 Pharmacological interventions 7 3 Alternative medicine 7 4 Prevention 8 Prognosis 9 Epidemiology 10 History 11 Society and culture 11 1 Neurodiversity movement 11 2 Symbols and flags 11 3 Caregivers 11 4 LGBT identity and religious beliefs 12 See also 13 References 13 1 Sources 14 Further reading 15 External linksClassificationSpectrum model Before the DSM 5 2013 and ICD 11 2022 diagnostic manuals were adopted what is now called ASD was found under the diagnostic category pervasive developmental disorder The previous system relied on a set of closely related and overlapping diagnoses such as Asperger syndrome and Kanner syndrome This created unclear boundaries between the terms so for the DSM 5 and ICD 11 a spectrum approach was taken The new system is also more restrictive meaning fewer people now qualify for diagnosis 25 The DSM 5 and ICD 11 use different categorization tools to define this spectrum DSM 5 uses a level system which ranks how in need of support the patient is 26 while the ICD 11 system has two axes intellectual impairment and language impairment 27 as these are seen as the most crucial factors Autism is currently defined as a highly variable neurodevelopmental disorder 28 that is generally thought to cover a broad and deep spectrum manifesting very differently from one person to another Some have high support needs may be non speaking and experience developmental delays this is more likely with other co existing diagnoses Others have relatively low support needs they may have more typical speech language and intellectual skills but atypical social conversation skills narrowly focused interests and wordy pedantic communication 29 They may still require significant support in some areas of their lives The spectrum model should not be understood as a continuum running from mild to severe but instead means that autism can present very differently in each person 30 How a person presents can depend on context and may vary over time 31 While the DSM and ICD greatly influence each other there are also differences For example Rett syndrome was included in ASD in the DSM 5 but in the ICD 11 it was excluded and placed in the chapter on Developmental Anomalies The ICD and the DSM change over time and there has been collaborative work toward a convergence of the two since 1980 when DSM III was published and ICD 9 was current including more rigorous biological assessment in place of historical experience and a simplification of the classification system 32 33 34 35 As of 2023 empirical and theoretical research is leading to a growing consensus among researchers that the established ASD criteria are ineffective to describe autism as a unitary biological entity and that alternative research approaches must be encouraged such as going back to autism prototypes exploring new causal models of autism or developing transdiagnostic endophenotypes 18 Proposed alternatives to the current disorder focused spectrum model deconstruct autism into at least two separate phenomena 1 a non pathological spectrum of behavioral traits in the population 36 37 and 2 the neuropathological burden of rare genetic mutations and environmental risk factors potentially leading to neurodevelopmental and psychological disorders 36 37 3 governed by an individual s cognitive ability to compensate 36 ICD The World Health Organization s International Classification of Diseases 11th Revision ICD 11 was released in June 2018 and came into full effect as of January 2022 38 32 It describes ASD as follows 39 Autism spectrum disorder is characterised by persistent deficits in the ability to initiate and to sustain reciprocal social interaction and social communication and by a range of restricted repetitive and inflexible patterns of behaviour interests or activities that are clearly atypical or excessive for the individual s age and sociocultural context The onset of the disorder occurs during the developmental period typically in early childhood but symptoms may not become fully manifest until later when social demands exceed limited capacities Deficits are sufficiently severe to cause impairment in personal family social educational occupational or other important areas of functioning and are usually a pervasive feature of the individual s functioning observable in all settings although they may vary according to social educational or other context Individuals along the spectrum exhibit a full range of intellectual functioning and language abilities ICD 11 chapter 6 section A02 ICD 11 was produced by professionals from 55 countries out of the 90 involved and is the most widely used reference worldwide DSM The American Psychiatric Association s Diagnostic and Statistical Manual of Mental Disorders Fifth Edition Text Revision DSM 5 TR released in 2022 is the current version of the DSM It is the predominant mental health diagnostic system used in the United States and Canada and is often used in Anglophone countries Its fifth edition DSM 5 released in May 2013 was the first to define ASD as a single diagnosis 40 which is still the case in the DSM 5 TR 41 ASD encompasses previous diagnoses including the four traditional diagnoses of autism classic Kanner syndrome Asperger syndrome childhood disintegrative disorder and pervasive developmental disorder not otherwise specified PDD NOS and the range of diagnoses that included the word autism 42 Rather than distinguishing among these diagnoses the DSM 5 and DSM 5 TR adopt a dimensional approach with one diagnostic category for disorders that fall under the autism spectrum umbrella Within that category the DSM 5 and the DSM include a framework that differentiates each person by dimensions of symptom severity as well as by associated features i e the presence of other disorders or factors that likely contribute to the symptoms other neurodevelopmental or mental disorders intellectual disability or language impairment 41 The symptom domains are a social communication and b restricted repetitive behaviors and there is the option of specifying a separate severity the negative effect of the symptoms on the person for each domain rather than just overall severity 43 Before the DSM 5 the DSM separated social deficits and communication deficits into two domains 44 Further the DSM 5 changed to an onset age in the early developmental period with a note that symptoms may manifest later when social demands exceed capabilities rather than the previous more restricted three years of age 45 These changes remain in the DSM 5 TR 41 Common characteristicsPre diagnosis For many autistic people characteristics first appear during infancy or childhood and follow a steady course without remission different developmental timelines are described in more detail below 46 Autistic people may be severely impaired in some respects but average or even superior in others 47 48 49 Clinicians consider assessment for ASD when a patient shows regular difficulties in social interaction or communication restricted or repetitive behaviors often called stimming resistance to changes or restricted interestsThese features are typically assessed with the following when appropriate problems in obtaining or sustaining employment or education difficulties in initiating or sustaining social relationships connections with mental health or learning disability services a history of neurodevelopmental conditions including learning disabilities and ADHD or mental health conditions 50 51 There are many signs associated with autism the presentation varies widely 52 53 Common signs for autism spectrum disorderavoidance of eye contact little or no babbling as an infant not showing interest in indicated objects delayed language skills e g having a smaller vocabulary than peers or difficulty expressing themselves in words reduced interest in other children or caretakers possibly with more interest in objects difficulty playing reciprocal games e g peek a boo hyper or hypo sensitivity to or unusual response to the smell texture sound taste or appearance of things resistance to changes in routine repetitive limited or otherwise unusual usage of toys e g lining up toys repetition of words or phrases echolalia repetitive motions or movements including stimming self harmingBroader autism phenotype The broader autism phenotype BAP describes people who may not have ASD but do have autistic traits such as avoiding eye contact and stimming 54 Social and communication skills According to the medical model autistic people experience social communications impairments Until 2013 deficits in social function and communication were considered two separate symptom domains 55 The current social communication domain criteria for autism diagnosis require people to have deficits across three social skills social emotional reciprocity nonverbal communication and developing and sustaining relationships 41 A deficit based view predicts that autistic autistic interaction would be less effective than autistic non autistic interactions or even non functional 56 But recent research has found that autistic autistic interactions are as effective in information transfer as interactions between non autistics are and that communication breaks down only between autistics and non autistics 56 57 Also contrary to social cognitive deficit interpretations recent research recorded similar social cognitive performances in autistic and non autistic adults with both of them rating autistic individuals less favorably than non autistic individuals however autistic individuals showed more interest in engaging with autistic people than non autistic people did and learning of a person s ASD diagnosis did not influence their interest level 58 Thus there has been a recent shift to acknowledge that autistic people may simply respond and behave differently than people without ASD 59 So far research has identified two unconventional features by which autistic people create shared understanding intersubjectivity a generous assumption of common ground that when understood led to rapid rapport and when not understood resulted in potentially disruptive utterances and a low demand for coordination that ameliorated many challenges associated with disruptive turns 57 Autistic interests and thus conversational topics seem to be largely driven by an intense interest in specific topics monotropism 60 61 Historically autistic children were said to be delayed in developing a theory of mind and the empathizing systemizing theory has argued that while autistic people have compassion affective empathy for others with similar presentation of symptoms they have limited though not necessarily absent cognitive empathy 62 This may present as social naivety 63 lower than average intuitive perception of the utility or meaning of body language social reciprocity 64 and or social expectations including the habitus social cues and or some aspects of sarcasm 65 which to some degree may also be due to comorbid alexithymia 66 But recent research has increasingly questioned these findings as the double empathy problem theory 2012 argues that there is a lack of mutual understanding and empathy between both neurotypical persons and autistic individuals 67 68 69 70 71 As communication is bidirectional 72 research on communication difficulties has since also begun to study non autistic behavior with researcher Catherine Crompton writing in 2020 that non autistic people struggle to identify autistic mental states identify autistic facial expressions overestimate autistic egocentricity and are less willing to socially interact with autistic people Thus although non autistic people are generally characterised as socially skilled these skills may not be functional or effectively applied when interacting with autistic people 56 Any previously observed communication deficits of autistic people may thus have been constructed through a neurotypical bias in autism research which has come to be scrutinized for dehumanization objectification and stigmatization 73 Recent research has proposed that autistics lack of readability and a neurotypical lack of effort to interpret atypical signals may cause a negative interaction loop increasingly driving both groups apart into two distinct groups with different social interaction styles 72 Differences in verbal communication begin to be noticeable in childhood as many autistic children develop language skills at an uneven pace Verbal communication may be delayed or never develop nonverbal autism while reading ability may be present before school age hyperlexia 74 75 Reduced joint attention seem to distinguish autistic from neurotypical infants 76 Infants may show delayed onset of babbling unusual gestures diminished responsiveness and vocal patterns that are not synchronized with the caregiver In the second and third years autistic children may have less frequent and less diverse babbling consonants words and word combinations their gestures are less often integrated with words Autistic children are less likely to make requests or share experiences and more likely to simply repeat others words echolalia 77 The CDC estimated in 2015 that around 40 of autistic children do not speak at all 78 Autistic adults verbal communication skills largely depend on when and how well speech is acquired during childhood 74 nbsp Temple Grandin in 2011Autistic people display atypical nonverbal behaviors or show differences in nonverbal communication They may make infrequent eye contact even when called by name or avoid it altogether Autistic people often recognize fewer emotions and their meaning from others facial expressions and may not respond with facial expressions expected by their non autistic peers 79 75 Temple Grandin an autistic woman involved in autism activism described her inability to understand neurotypicals social communication as leaving her feeling like an anthropologist on Mars 80 Autistic people struggle to understand the social context and subtext of neurotypical conversational or printed situations and form different conclusions about the content 81 Autistic people may not control the volume of their voice in different social settings 82 At least half of autistic children have unusual prosody 82 What may look like self involvement or indifference to non autistic people stems from autistic differences in recognizing how other people have their own personalities perspectives and interests 81 83 Most published research focuses on the interpersonal relationship difficulties between autistic people and their non autistic counterparts and how to solve them through teaching neurotypical social skills but newer research has also evaluated what autistic people want from friendships such as a sense of belonging and good mental health 84 85 Children with ASD are more frequently involved in bullying situations than their neurotypical peers and predominantly experience bullying as victims rather than perpetrators or victim perpetrators especially after controlling for comorbid psychopathology 86 Prioritizing dependability and intimacy in friendships during adolescence coupled with lowered friendship quantity and quality often lead to increased loneliness in autistic people 87 As they progress through life autistic people observe and form a model of social patterns and develop coping mechanisms referred to as masking 88 89 which has recently been found to come with psychological costs and a highly increased risk of suicidality 72 Restricted and repetitive behaviors nbsp A young autistic boy who has arranged his toys in a rowASD includes a wide variety of characteristics Some of these include behavioral characteristics which widely range from slow development of social and learning skills to difficulties creating connections with other people Autistic people may experience these challenges with forming connections due to anxiety or depression which they are more likely to experience and as a result isolate themselves 90 medical citation needed Other behavioral characteristics include abnormal responses to sensations such as sights sounds touch taste and smell and problems keeping a consistent speech rhythm The latter problem influences social skills leading to potential problems in understanding for interlocutors Autistic people s behavioral characteristics typically influence development language and social competence Their behavioral characteristics can be observed as perceptual disturbances disturbances of development rate relating speech and language and motility 91 The second core symptom of autism spectrum is a pattern of restricted and repetitive behaviors activities and interests In order to be diagnosed with ASD under the DSM 5 TR a person must have at least two of the following behaviors 41 92 nbsp An older autistic boy arranging brads on a cork coaster Repetitive behaviors Repetitive behaviors such as rocking hand flapping finger flicking head banging or repeating phrases or sounds 93 These behaviors may occur constantly or only when the person gets stressed anxious or upset These behaviors are also known as stimming Resistance to change A strict adherence to routines such as eating certain foods in a specific order or taking the same path to school every day 93 The person may become distressed if there is a change or disruption to their routine Restricted interests An excessive interest in a particular activity topic or hobby and devoting all their attention to it For example young children might completely focus on things that spin and ignore everything else Older children might try to learn everything about a single topic such as the weather or sports and perseverate or talk about it constantly 93 Sensory reactivity An unusual reaction to certain sensory inputs such as negative reaction to specific sounds or textures fascination with lights or movements or apparent indifference to pain or heat 94 Autistic people can display many forms of repetitive or restricted behavior which the Repetitive Behavior Scale Revised RBS R categorizes as follows 95 Stereotyped behaviors Repetitive movements such as hand flapping head rolling or body rocking Compulsive behaviors Time consuming behaviors intended to reduce anxiety that a person feels compelled to perform repeatedly or according to rigid rules such as placing objects in a specific order checking things or handwashing Sameness Resistance to change for example insisting that the furniture not be moved or refusing to be interrupted Ritualistic behavior Unvarying pattern of daily activities such as an unchanging menu or a dressing ritual This is closely associated with sameness and an independent validation has suggested combining the two factors 95 Restricted interests Interests or fixations that are abnormal in theme or intensity of focus such as preoccupation with a single television program toy or game Self injury Behaviors such as eye poking skin picking hand biting and head banging 76 Self injury Self injurious behaviors SIB are relatively common in autistic people and can include head banging self cutting self biting and hair pulling 96 Some of these can result in serious injury or death 96 Following are theories about the cause of self injurious behavior in children with developmental delay including autistic children 97 Frequency and or continuation of self injurious behavior can be influenced by environmental factors e g reward in return for halting self injurious behavior This theory does not apply to younger children with autism There is some evidence that frequency of self injurious behavior can be reduced by removing or modifying environmental factors that reinforce the behavior 97 10 12 Higher rates of self injury are also noted in socially isolated people with autism Studies have shown that socialization skills are related factors to self injurious behavior for people with autism 98 Self injury could be a response to modulate pain perception when chronic pain or other health problems that cause pain are present 97 12 13 An abnormal basal ganglia connectivity may predispose to self injurious behavior 97 13 The suicide rate for verbal autistics is nine times that of the general population 99 Other features Autistic people may have symptoms that do not contribute to the official diagnosis but that can affect the person or the family 100 Some people with ASD show unusual or notable abilities ranging from splinter skills such as the memorization of trivia to rare talents in mathematics music or artistic reproduction which in exceptional cases are considered a part of the savant syndrome 101 102 103 One study describes how some people with ASD show superior skills in perception and attention relative to the general population 104 Sensory abnormalities are found in over 90 of autistic people and are considered core features by some 105 More generally autistic people tend to show a spiky skills profile with strong abilities in some areas contrasting with much weaker abilities in others 106 Differences between the previously recognized disorders under the autism spectrum are greater for under responsivity for example walking into things than for over responsivity for example distress from loud noises or for sensation seeking for example rhythmic movements 107 An estimated 60 80 of autistic people have motor signs that include poor muscle tone poor motor planning and toe walking 105 108 deficits in motor coordination are pervasive across ASD and are greater in autism proper 109 110 Pathological demand avoidance can occur People with this set of autistic symptoms are more likely to refuse to do what is asked or expected of them even to activities they enjoy Unusual or atypical eating behavior occurs in about three quarters of children with ASD to the extent that it was formerly a diagnostic indicator 100 Selectivity is the most common problem although eating rituals and food refusal also occur 111 Possible causesMain article Causes of autism Exactly what causes autism remains unknown 112 113 114 115 It was long mostly presumed that there is a common cause at the genetic cognitive and neural levels for the social and non social components of ASD s symptoms described as a triad in the classic autism criteria 116 But it is increasingly suspected that autism is instead a complex disorder whose core aspects have distinct causes that often cooccur 116 117 It is unlikely that ASD has a single cause 117 many risk factors identified in the research literature may contribute to ASD These include genetics prenatal and perinatal factors meaning factors during pregnancy or very early infancy neuroanatomical abnormalities and environmental factors It is possible to identify general factors but much more difficult to pinpoint specific ones Given the current state of knowledge prediction can only be of a global nature and so requires the use of general markers clarification needed 118 Biological subgroups Research into causes has been hampered by the inability to identify biologically meaningful subgroups within the autistic population 119 and by the traditional boundaries between the disciplines of psychiatry psychology neurology and pediatrics 120 Newer technologies such as fMRI and diffusion tensor imaging can help identify biologically relevant phenotypes observable traits that can be viewed on brain scans to help further neurogenetic studies of autism 121 one example is lowered activity in the fusiform face area of the brain which is associated with impaired perception of people versus objects 122 It has been proposed to classify autism using genetics as well as behavior 123 Syndromic autism and non syndromic autism Main article Syndromic autism Autism spectrum disorder ASD can be classified into two categories syndromic autism and non syndromic autism Syndromic autism refers to cases where ASD is one of the characteristics associated with a broader medical condition or syndrome representing about 25 of ASD cases The causes of syndromic autism are often known and monogenic disorders account for approximately 5 of these cases Non syndromic autism also known as classic or idiopathic autism represents the majority of cases and its cause is typically polygenic and unknown Genetics Main article Heritability of autism See also Missing heritability problem nbsp Hundreds of different genes are implicated in susceptibility to developing autism 124 most of which alter the brain structure in a similar way Autism has a strong genetic basis although the genetics of autism are complex and it is unclear whether ASD is explained more by rare mutations with major effects or by rare multi gene interactions of common genetic variants 125 126 Complexity arises due to interactions among multiple genes the environment and epigenetic factors which do not change DNA sequencing but are heritable and influence gene expression 127 Many genes have been associated with autism through sequencing the genomes of affected people and their parents 128 But most of the mutations that increase autism risk have not been identified Typically autism cannot be traced to a Mendelian single gene mutation or to a single chromosome abnormality and none of the genetic syndromes associated with ASD have been shown to selectively cause ASD 125 Numerous genes have been found with only small effects attributable to any particular gene 125 Most loci individually explain less than 1 of cases of autism 129 As of 2018 update it appeared that between 74 and 93 of ASD risk is heritable 92 After an older child is diagnosed with ASD 7 to 20 of subsequent children are likely to be as well 92 If parents have one autistic child they have a 2 to 8 chance of having a second child who is autistic If the autistic child is an identical twin the other will be affected 36 to 95 of the time A fraternal twin is affected up to 31 of the time medical citation needed The large number of autistic people with unaffected family members may result from spontaneous structural variation such as deletions duplications or inversions in genetic material during meiosis 130 131 Hence a substantial fraction of autism cases may be traceable to genetic causes that are highly heritable but not inherited that is the mutation that causes the autism is not present in the parental genome 132 verification needed As of 2018 update understanding of genetic risk factors had shifted from a focus on a few alleles to an understanding that genetic involvement in ASD is probably diffuse depending on a large number of variants some of which are common and have a small effect and some of which are rare and have a large effect The most common gene disrupted with large effect rare variants appeared to be CHD8 but less than 0 5 of autistic people have such a mutation The gene CHD8 encodes the protein chromodomain helicase DNA binding protein 8 which is a chromatin regulator enzyme that is essential during fetal development CHD8 is an ATP dependent enzyme 133 134 135 The protein contains an Snf2 helicase domain that is responsible for the hydrolysis of ATP to ADP 135 CHD8 encodes for a DNA helicase that function as a transcription repressor by remodeling chromatin structure by altering the position of nucleosomes CHD8 negatively regulates Wnt signaling Wnt signaling is important in the vertebrate early development and morphogenesis It is believed that CHD8 also recruits the linker histone H1 and causes the repression of b catenin and p53 target genes 133 The importance of CHD8 can be observed in studies where CHD8 knockout mice died after 5 5 embryonic days because of widespread p53 induced apoptosis Some studies have determined the role of CHD8 in autism spectrum disorder ASD CHD8 expression significantly increases during human mid fetal development 133 The chromatin remodeling activity and its interaction with transcriptional regulators have shown to play an important role in ASD aetiology 134 The developing mammalian brain has a conserved CHD8 target regions that are associated with ASD risk genes 136 The knockdown of CHD8 in human neural stem cells results in dysregulation of ASD risk genes that are targeted by CHD8 137 Recently CD8 has been associated to the regulation of long non coding RNAs lncRNAs 138 and the regulation of X chromosome inactivation XCI initiation via regulation of Xist long non coding RNA ambiguous the master regulator of XCI ambiguous though competitive binding to Xist regulatory regions 139 Some ASD is associated with clearly genetic conditions like fragile X syndrome but only around 2 of autistic people have fragile X 92 Hypotheses from evolutionary psychiatry suggest that these genes persist because they are linked to human inventiveness intelligence or systemising 140 141 Current research suggests that genes that increase susceptibility to ASD are ones that control protein synthesis in neuronal cells in response to cell needs activity and adhesion of neuronal cells synapse formation and remodeling and excitatory to inhibitory neurotransmitter balance Therefore although up to 1 000 different genes are thought to increase the risk of ASD all of them eventually affect normal neural development and connectivity between different functional areas of the brain in a similar manner that is characteristic of an ASD brain Some of these genes are known to modulate production of the GABA neurotransmitter the nervous system s main inhibitory neurotransmitter These GABA related genes are under expressed in an ASD brain On the other hand genes controlling expression of glial and immune cells in the brain e g astrocytes and microglia respectively are over expressed which correlates with increased number of glial and immune cells found in postmortem ASD brains Some genes under investigation in ASD pathophysiology are those that affect the mTOR signaling pathway which supports cell growth and survival 142 All these genetic variants contribute to the development of the autism spectrum but it cannot be guaranteed that they are determinants for the development 143 ASD may be under diagnosed in women and girls due to an assumption that it is primarily a male condition 144 but genetic phenomena such as imprinting and X linkage have the ability to raise the frequency and severity of conditions in males and theories have been put forward for a genetic reason why males are diagnosed more often such as the imprinted brain hypothesis and the extreme male brain theory 145 146 147 Early life Several prenatal and perinatal complications have been reported as possible risk factors for autism These risk factors include maternal gestational diabetes maternal and paternal age over 30 bleeding during pregnancy after the first trimester use of certain prescription medication e g valproate during pregnancy and meconium in the amniotic fluid Research is not conclusive on the relation of these factors to autism but each of them has been identified more frequently in children with autism compared to their siblings who do not have autism and other typically developing youth 148 While it is unclear if any single factors during the prenatal phase affect the risk of autism 149 complications during pregnancy may be a risk 149 There are also studies being done to test whether certain types of regressive autism have an autoimmune basis 150 Maternal nutrition and inflammation during preconception and pregnancy influences fetal neurodevelopment Intrauterine growth restriction is associated with ASD in both term and preterm infants 151 Maternal inflammatory and autoimmune diseases may damage fetal tissues aggravating a genetic problem or damaging the nervous system 152 Exposure to air pollution during child pregnancy especially heavy metals and particulates may increase the risk of autism 153 154 Environmental factors that have been claimed without evidence to contribute to or exacerbate autism include certain foods infectious diseases solvents PCBs phthalates and phenols used in plastic products pesticides brominated flame retardants alcohol smoking illicit drugs vaccines 155 and prenatal stress Some such as the MMR vaccine have been completely disproven 156 157 158 159 Disproven vaccine hypothesis Main articles Vaccines and autism and MMR vaccine and autism Parents may first become aware of ASD symptoms in their child around the time of a routine vaccination This has led to unsupported and disproven theories blaming vaccine overload the vaccine preservative thiomersal or the MMR vaccine for causing autism spectrum disorder 160 In 1998 British physician and academic Andrew Wakefield led a fraudulent litigation funded study that suggested that the MMR vaccine may cause autism 161 162 163 164 165 Two versions of the vaccine causation hypothesis were that autism results from brain damage caused by either the MMR vaccine itself or by mercury used as a vaccine preservative 166 No convincing scientific evidence supports these claims 12 They are biologically implausible 160 and further evidence continues to refute them including the observation that the rate of autism continues to climb despite elimination of thimerosal from most routine vaccines given to children from birth to 6 years of age 167 168 169 170 171 A 2014 meta analysis examined ten major studies on autism and vaccines involving 1 25 million children worldwide it concluded that neither the vaccine preservative thimerosal mercury nor the MMR vaccine which has never contained thimerosal 172 lead to the development of ASDs 173 Despite this misplaced parental concern has led to lower rates of childhood immunizations outbreaks of previously controlled childhood diseases in some countries and the preventable deaths of several children 174 175 Etiological hypotheses Several hypotheses have been presented that try to explain how and why autism develops by integrating known causes genetic and environmental effects and findings neurobiological and somatic Some are more comprehensive such as the Pathogenetic Triad which proposes and operationalizes three core features an autistic personality cognitive compensation neuropathological burden that interact to cause autism 176 and the Intense World Theory which explains autism through a hyper active neurobiology that leads to an increased perception attention memory and emotionality 177 There are also simpler hypotheses that explain only individual parts of the neurobiology or phenotype of autism such as mind blindness a decreased ability for theory of mind the weak central coherence theory or the extreme male brain and empathising systemising theory Evolutionary hypotheses See also Evolutionary psychiatry and Evolutionary psychology Research exploring the evolutionary benefits of autism and associated genes has suggested that autistic people may have played a unique role in technological spheres and understanding of natural systems in the course of human development 178 179 It has been suggested that it may have arisen as a slight trade off for other traits that are seen as highly advantageous providing advantages in tool making and mechanical thinking with speculation that the condition may reveal itself to be the result of a balanced polymorphism like sickle cell anemia that is advantageous in a certain mixture of genes and disadvantageous in specific combinations 180 In 2011 a paper in Evolutionary Psychology proposed that autistic traits including increased abilities for spatial intelligence concentration and memory could have been naturally selected to enable self sufficient foraging in a more although not completely solitary environment referred to as the Solitary Forager Hypothesis 181 182 183 A 2016 paper examines Asperger syndrome as an alternative prosocial adaptive strategy which may have developed as a result of the emergence of collaborative morality in the context of small scale hunter gathering i e where a positive social reputation for making a contribution to group wellbeing and survival becomes more important than complex social understanding 184 Conversely some multidisciplinary research suggests that recent human evolution may be a driving force in the rise of a number of medical conditions in recent human populations including autism Studies in evolutionary medicine indicate that as biological evolution becomes outpaced by cultural evolution disorders linked to bodily dysfunction increase in prevalence due to a lack of contact with pathogens and negative environmental conditions that once widely affected ancestral populations Because natural selection primarily favors reproduction over health and longevity the lack of this impetus to adapt to certain harmful circumstances creates a tendency for genes in descendant populations to over express themselves which may cause a wide array of maladies ranging from mental disorders to autoimmune diseases 185 PathophysiologyMain articles Mechanism of autism and Pathophysiology of autismDiagnosisMain article Diagnosis of autismConditions correlated or comorbid to autismMain article Conditions comorbid to autism spectrum disorders Autism is correlated or comorbid with several personality traits disorders 122 Comorbidity may increase with age and may worsen the course of youth with ASDs and make intervention and treatment more difficult Distinguishing between ASDs and other diagnoses can be challenging because the traits of ASDs often overlap with symptoms of other disorders and the characteristics of ASDs make traditional diagnostic procedures difficult 186 187 Correlations Research indicates that autistic people are significantly more likely to be LGBT than the general population 188 There is tentative evidence that gender dysphoria occurs more frequently in autistic people 189 190 A 2021 anonymized online survey of 16 to 90 year olds revealed that autistic males are more likely to identify as bisexual than their non autistic peers while autistic females are more likely to identify as homosexual than non autistic females do 191 People on the autism spectrum are significantly more likely to be non theistic than members of the general population 192 Comorbidities The most common medical condition occurring in people with ASDs is seizure disorder or epilepsy which occurs in 11 39 of autistic people 193 The risk varies with age cognitive level and type of language disorder 194 Tuberous sclerosis an autosomal dominant genetic condition in which non malignant tumors grow in the brain and on other vital organs is present in 1 4 of people with ASDs 195 Intellectual disabilities are some of the most common comorbid disorders with ASDs As diagnosis is increasingly being given to people with higher functioning autism there is a tendency for the proportion with comorbid intellectual disability to decrease over time In a 2019 study it was estimated that approximately 30 40 of people diagnosed with ASD also have intellectual disability 196 Recent research has suggested that autistic people with intellectual disability tend to have rarer more harmful genetic mutations than those found in people solely diagnosed with autism 197 A number of genetic syndromes causing intellectual disability may also be comorbid with ASD including fragile X Down Prader Willi Angelman Williams syndrome 198 branched chain keto acid dehydrogenase kinase deficiency 199 200 and SYNGAP1 related intellectual disability 201 202 Learning disabilities are also highly comorbid in people with an ASD Approximately 25 75 of people with an ASD also have some degree of a learning disability 203 Various anxiety disorders tend to co occur with ASDs with overall comorbidity rates of 7 84 204 They are common among children with ASD there are no firm data but studies have reported prevalences ranging from 11 to 84 Many anxiety disorders have symptoms that are better explained by ASD itself or are hard to distinguish from ASD s symptoms 205 Rates of comorbid depression in people with an ASD range from 4 58 206 The relationship between ASD and schizophrenia remains a controversial subject under continued investigation and recent meta analyses have examined genetic environmental infectious and immune risk factors that may be shared between the two conditions 207 208 209 Oxidative stress DNA damage and DNA repair have been postulated to play a role in the aetiopathology of both ASD and schizophrenia 210 Deficits in ASD are often linked to behavior problems such as difficulties following directions being cooperative and doing things on other people s terms 211 Symptoms similar to those of attention deficit hyperactivity disorder ADHD can be part of an ASD diagnosis 212 Sensory processing disorder is also comorbid with ASD with comorbidity rates of 42 88 213 Starting in adolescence some people with Asperger syndrome 26 in one sample 214 fall under the criteria for the similar condition schizoid personality disorder which is characterized by a lack of interest in social relationships a tendency towards a solitary or sheltered lifestyle secretiveness emotional coldness detachment and apathy 214 215 216 Asperger syndrome was traditionally called schizoid disorder of childhood Genetic disorders about 10 15 of autism cases have an identifiable Mendelian single gene condition chromosome abnormality or other genetic syndromes 217 Several metabolic defects such as phenylketonuria are associated with autistic symptoms 218 verification needed Gastrointestinal problems are one of the most commonly co occurring medical conditions in autistic people 219 These are linked to greater social impairment irritability language impairments mood changes and behavior and sleep problems 219 220 221 A 2015 review proposed that immune gastrointestinal inflammation malfunction of the autonomic nervous system gut flora alterations and food metabolites may cause brain neuroinflammation and dysfunction 220 A 2016 review concludes that enteric nervous system abnormalities might play a role in neurological disorders such as autism Neural connections and the immune system are a pathway that may allow diseases originated in the intestine to spread to the brain 221 Sleep problems affect about two thirds of people with ASD at some point in childhood These most commonly include symptoms of insomnia such as difficulty falling asleep frequent nocturnal awakenings and early morning awakenings Sleep problems are associated with difficult behaviors and family stress and are often a focus of clinical attention over and above the primary ASD diagnosis 222 Dysautonomia is common in ASD affecting heart rate and blood pressure and causing symptoms such as brain fog blurry vision and bowel dysfunction 223 It can be diagnosed through a Tilt table test 224 The frequency of ASD is 10 times higher in Mast cell activation syndrome patients than in the general population This immunological condition causes cardiovascular dermatological gastrointestinal neurological and respiratory problems 225 ManagementMain article Autism therapies There is no treatment as such for autism 226 and many sources advise that this is not an appropriate goal 227 228 although treatment of co occurring conditions remains an important goal 229 There is no cure for autism as of 2024 nor can any of the known treatments significantly reduce brain mutations caused by autism although those who require little to no support are more likely to experience a lessening of symptoms over time 230 231 232 Several interventions can help children with autism 233 and no single treatment is best with treatment typically tailored to the child s needs 234 Studies of interventions have methodological problems that prevent definitive conclusions about efficacy 235 but the development of evidence based interventions has advanced 236 The main goals of treatment are to lessen associated deficits and family distress and to increase quality of life and functional independence In general higher IQs are correlated with greater responsiveness to treatment and improved treatment outcomes 237 19 Behavioral psychological education and or skill building interventions may be used to assist autistic people to learn life skills necessary for living independently 238 as well as other social communication and language skills Therapy also aims to reduce challenging behaviors and build upon strengths 239 Intensive sustained special education programs and behavior therapy early in life may help children acquire self care language and job skills 234 Although evidence based interventions for autistic children vary in their methods many adopt a psychoeducational approach to enhancing cognitive communication and social skills while minimizing problem behaviors While medications have not been found to help with core symptoms they may be used for associated symptoms such as irritability inattention or repetitive behavior patterns 240 Non pharmacological interventions Intensive sustained special education or remedial education programs and behavior therapy early in life may help children acquire self care social and job skills Available approaches include applied behavior analysis developmental models structured teaching speech and language therapy cognitive behavioral therapy 241 social skills therapy and occupational therapy 242 Among these approaches interventions either treat autistic features comprehensively or focus treatment on a specific area of deficit 19 Generally when educating those with autism specific tactics may be used to effectively relay information to these people Using as much social interaction as possible is key in targeting the inhibition autistic people experience concerning person to person contact Additionally research has shown that employing semantic groupings which involves assigning words to typical conceptual categories can be beneficial in fostering learning 243 There has been increasing attention to the development of evidence based interventions for autistic young children Three theoretical frameworks outlined for early childhood intervention include applied behavior analysis ABA the developmental social pragmatic model DSP and cognitive behavioral therapy CBT 241 19 Although ABA therapy has a strong evidence base particularly in regard to early intensive home based therapy ABA s effectiveness may be limited by diagnostic severity and IQ of the person affected by ASD 244 The Journal of Clinical Child and Adolescent Psychology has published a paper deeming two early childhood interventions well established individual comprehensive ABA and focused teacher implemented ABA combined with DSP 19 Another evidence based intervention that has demonstrated efficacy is a parent training model which teaches parents how to implement various ABA and DSP techniques themselves 19 Various DSP programs have been developed to explicitly deliver intervention systems through at home parent implementation In October 2015 the American Academy of Pediatrics AAP proposed new evidence based recommendations for early interventions in ASD for children under 3 245 These recommendations emphasize early involvement with both developmental and behavioral methods support by and for parents and caregivers and a focus on both the core and associated symptoms of ASD 245 But a Cochrane review found no evidence that early intensive behavioral intervention EIBI is effective in reducing behavioral problems associated with autism in most autistic children though it did improve IQ and language skills 246 The Cochrane review acknowledged that this may be due to the low quality of studies available on EIBI and therefore providers should recommend EIBI based on their clinical judgment and the family s preferences 246 No adverse effects of EIBI treatment were found 246 A meta analysis in that same database indicates that due to the heterology in ASD children progress to differing early intervention modalities based on ABA 20 ASD treatment generally focuses on behavioral and educational interventions to target its two core symptoms social communication deficits and restricted repetitive behaviors 247 If symptoms continue after behavioral strategies have been implemented some medications can be recommended to target specific symptoms or co existing problems such as restricted and repetitive behaviors RRBs anxiety depression hyperactivity inattention and sleep disturbance 247 Melatonin for example can be used for sleep problems 248 Several parent mediated behavioral therapies target social communication deficits in children with autism but their efficacy in treating RRBs is uncertain 249 Education nbsp 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 250 Educational interventions often used include applied behavior analysis ABA developmental models structured teaching speech and language therapy and social skills therapy 234 Among these approaches interventions either treat autistic features comprehensively or focalize treatment on a specific area of deficit 236 The quality of research for early intensive behavioral intervention EIBI a treatment procedure incorporating over thirty hours per week of the structured type of ABA that is carried out with very young children is low more vigorous research designs with larger sample sizes are needed 246 Two theoretical frameworks outlined for early childhood intervention include structured and naturalistic ABA interventions and developmental social pragmatic models DSP 236 One interventional strategy utilizes a parent training model which teaches parents how to implement various ABA and DSP techniques allowing for parents to disseminate interventions themselves 236 Various DSP programs have been developed to explicitly deliver intervention systems through at home parent implementation Despite the recent development of parent training models these interventions have demonstrated effectiveness in numerous studies being evaluated as a probable efficacious mode of treatment 236 Early intensive ABA therapy has demonstrated effectiveness in enhancing communication and adaptive functioning in preschool children 234 251 it is also well established for improving the intellectual performance of that age group 234 In 2018 a Cochrane meta analysis database concluded that some recent research is beginning to suggest that because of the heterology of ASD there are two different ABA teaching approaches to acquiring spoken language children with higher receptive language skills respond to the naturalistic approach whereas children with lower receptive language skills require discrete trial training the structured and intensive form of ABA 20 A 2023 semi randomized control trial study of 168 participants showed similar findings 21 Similarly a teacher implemented intervention that utilizes a more naturalistic form of ABA combined with a developmental social pragmatic approach has been found to be beneficial in improving social communication skills in young children although there is less evidence in its treatment of global symptoms 236 Neuropsychological reports are often poorly communicated to educators resulting in a gap between what a report recommends and what education is provided 252 The appropriateness of including children with varying severity of autism spectrum disorders in the general education population is a subject of current debate among educators and researchers 253 Pharmacological interventions Medications may be used to treat ASD symptoms that interfere with integrating a child into home or school when behavioral treatment fails 254 They may also be used for associated health problems such as ADHD anxiety or if the person is hurting themself or aggressive with others 254 255 but their routine prescription for ASD s core features is not recommended 256 More than half of US children diagnosed with ASD are prescribed psychoactive drugs or anticonvulsants with the most common drug classes being antidepressants stimulants and antipsychotics 257 258 The atypical antipsychotic drugs risperidone and aripiprazole are FDA approved for treating associated aggressive and self injurious behaviors 240 259 But their side effects must be weighed against their potential benefits and autistic people may respond atypically 240 Side effects may include weight gain tiredness drooling and aggression 240 Some emerging data show positive effects of aripiprazole and risperidone on restricted and repetitive behaviors i e stimming e g flapping twisting complex whole body movements 256 but due to the small sample size and different focus of these studies and the concerns about its side effects antipsychotics are not recommended as primary treatment of RRBs 260 SSRI antidepressants such as fluoxetine and fluvoxamine have been shown to be effective in reducing repetitive and ritualistic behaviors while the stimulant medication methylphenidate is beneficial for some children with co morbid inattentiveness or hyperactivity 234 There is scant reliable research about the effectiveness or safety of drug treatments for adolescents and adults with ASD 261 No known medication relieves autism s core symptoms of social and communication impairments 240 Alternative medicine A multitude of alternative therapies have been researched and implemented Many have resulted in harm to autistic people 242 A 2020 systematic review on adults with autism provided evidence that mindfulness based interventions may decrease stress anxiety ruminating thoughts anger and aggression and improve mental health 262 Although popularly used as an alternative treatment for autistic people as of 2018 update there is no good evidence to recommend a gluten and casein free diet as a standard treatment 263 264 265 A 2018 review concluded that it may be a therapeutic option for specific groups of children with autism such as those with known food intolerances or allergies or with food intolerance markers The authors analyzed the prospective trials conducted to date that studied the efficacy of the gluten and casein free diet in children with ASD 4 in total All of them compared gluten and casein free diet versus normal diet with a control group 2 double blind randomized controlled trials 1 double blind crossover trial 1 single blind trial In two of the studies whose duration was 12 and 24 months a significant improvement in ASD symptoms efficacy rate 50 was identified In the other two studies whose duration was 3 months no significant effect was observed 263 The authors concluded that a longer duration of the diet may be necessary to achieve the improvement of the ASD symptoms 263 Other problems documented in the trials carried out include transgressions of the diet small sample size the heterogeneity of the participants and the possibility of a placebo effect 265 266 267 In the subset of people who have gluten sensitivity there is limited evidence that suggests that a gluten free diet may improve some autistic behaviors 268 269 270 The preference that autistic children have for unconventional foods can lead to reduction in bone cortical thickness with this risk being greater in those on casein free diets as a consequence of the low intake of calcium and vitamin D however suboptimal bone development in ASD has also been associated with lack of exercise and gastrointestinal disorders 271 In 2005 botched chelation therapy killed a five year old child with autism 272 273 Chelation is not recommended for autistic people since the associated risks outweigh any potential benefits 274 Another alternative medicine practice with no evidence is CEASE therapy a pseudoscientific mixture of homeopathy supplements and vaccine detoxing 275 Results of a systematic review on interventions to address health outcomes among autistic adults found emerging evidence to support mindfulness based interventions for improving mental health This includes decreasing stress anxiety ruminating thoughts anger and aggression 276 An updated Cochrane review 2022 found evidence that music therapy likely improves social interactions verbal communication and nonverbal communication skills 277 There has been early research on hyperbaric treatments in children with autism 278 Studies on pet therapy have shown positive effects 279 Prevention While infection with rubella during pregnancy causes fewer than 1 of cases of autism 280 vaccination against rubella can prevent many of those cases 281 PrognosisMain article Prognosis of autism There is no evidence of a cure for autism 234 122 The degree of symptoms can decrease occasionally to the extent that people lose their diagnosis of ASD 282 283 this occurs sometimes after intensive treatment 284 and sometimes not It is not known how often this outcome happens 285 with reported rates in unselected samples ranging from 3 to 25 282 283 Although core difficulties tend to persist symptoms often become less severe with age 127 Acquiring language before age six having an IQ above 50 and having a marketable skill all predict better outcomes independent living is unlikely in autistic people with higher support needs 286 The prognosis of autism describes the developmental course gradual autism development regressive autism development differential outcomes academic performance and employment EpidemiologyMain article Epidemiology of autism nbsp 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 The World Health Organization WHO estimates about 1 in 100 children had autism during the period from 2012 to 2021 as that was the average estimate in studies published during that period with a trend of increasing prevalence over time However the study s 1 figure may reflect an underestimate of prevalence in low and middle income countries 5 287 The number of people diagnosed has increased considerably since the 1990s which may be partly due to increased recognition of the condition 288 While rates of ASD are consistent across cultures they vary greatly by gender with boys diagnosed far more frequently than girls 1 in 70 boys but only 1 in 315 girls at eight years of age 289 Girls however are more likely to have associated cognitive impairment suggesting that less severe forms of ASD are likely being missed in girls and women 290 Prevalence differences may be a result of gender differences in expression of clinical symptoms with women and girls with autism showing less atypical behaviors and therefore less likely to receive an ASD diagnosis 291 Using DSM 5 criteria 92 of the children diagnosed per DSM IV with one of the disorders which is now considered part of ASD will still meet the diagnostic criteria of ASD However if both ASD and the social pragmatic communication disorder categories of DSM 5 are combined the prevalence of autism is mostly unchanged from the prevalence per the DSM IV criteria The best estimate for prevalence of ASD is 0 7 or 1 child in 143 children 292 Relatively mild forms of autism such as Asperger s as well as other developmental disorders are included in the DSM 5 diagnostic criteria 293 ASD rates were constant between 2014 and 2016 but twice the rate compared to the time period between 2011 and 2014 1 25 vs 2 47 A Canadian meta analysis from 2019 confirmed these effects as the profiles of people diagnosed with autism became less and less different from the profiles of the general population 294 In the US the rates for diagnosed ASD have been steadily increasing since 2000 when records began being kept 295 While it remains unclear whether this trend represents a true rise in incidence it likely reflects changes in ASD diagnostic criteria improved detection and increased public awareness of autism 296 In 2012 the NHS estimated that the overall prevalence of autism among adults aged 18 years and over in the UK was 1 1 297 A 2016 survey in the United States reported a rate of 25 per 1 000 children for ASD 298 Rates of autism are poorly understood in many low and middle income countries which affects the accuracy of global ASD prevalence estimates 299 but it is thought that most autistic people live in low and middle income countries 300 In 2020 the Centers for Disease Control s Autism and Developmental Disabilities Monitoring ADDM Network reported that approximately 1 in 54 children in the United States 1 in 34 boys and 1 in 144 girls is diagnosed with an autism spectrum disorder ASD based on data collected in 2016 301 302 This estimate is a 10 increase from the 1 in 59 rate in 2014 a 105 increase from the 1 in 110 rate in 2006 and a 176 increase from the 1 in 150 rate in 2000 301 Diagnostic criteria for ASD have changed significantly since the 1980s for example U S special education autism classification was introduced in 1994 155 In the UK from 1998 to 2018 the autism diagnoses increased by 787 288 This increase is largely attributable to changes in diagnostic practices referral patterns availability of services age at diagnosis and public awareness 303 304 305 particularly among women 288 though unidentified environmental risk factors cannot be ruled out 306 The available evidence does not rule out the possibility that autism s true prevalence has increased 303 a real increase would suggest directing more attention and funding toward psychosocial factors and changing environmental factors instead of continuing to focus on genetics 307 It has been established that vaccination is not a risk factor for autism and is not a cause of any increase in autism prevalence rates if any change in the rate of autism exists at all 173 Males have higher likelihood of being diagnosed with ASD than females The sex ratio averages 4 3 1 and is greatly modified by cognitive impairment it may be close to 2 1 with intellectual disability and more than 5 5 1 without 155 Several theories about the higher prevalence in males have been investigated but the cause of the difference is unconfirmed 308 one theory is that females are underdiagnosed 309 The risk of developing autism is greater with older fathers than with older mothers two potential explanations are the known increase in mutation burden in older sperm and the hypothesis that men marry later if they carry genetic liability and show some signs of autism 28 Most professionals believe that race ethnicity and socioeconomic background do not affect the occurrence of autism 310 HistoryMain article History of autismSociety and cultureMain article Societal and cultural aspects of autism An autistic culture has emerged accompanied by the autistic rights and neurodiversity movements that argues autism should be accepted as a difference to be accommodated instead of cured 311 312 313 314 315 although a minority of autistic people might still accept a cure 316 Worldwide events related to autism include World Autism Awareness Day Autism Sunday Autistic Pride Day Autreat and others 317 318 319 320 Social science scholars study those with autism in hopes to learn more about autism as a culture transcultural comparisons and research on social movements 321 Many autistic people have been successful in their fields 322 Neurodiversity movement Some autistic people as well as a growing number of researchers 13 have advocated a shift in attitudes toward the view that autism spectrum disorder is a difference rather than a disease that must be treated or cured 323 324 Critics have bemoaned the entrenchment of some of these groups opinions 325 326 327 328 The neurodiversity movement and the autism rights movement are social movements within the context of disability rights emphasizing the concept of neurodiversity which describes the autism spectrum as a result of natural variations in the human brain rather than a disorder to be cured 313 99 The autism rights movement advocates for including greater acceptance of autistic behaviors therapies that focus on coping skills rather than imitating the behaviors of those without autism 329 and the recognition of the autistic community as a minority group 329 330 Autism rights or neurodiversity advocates believe that the autism spectrum is genetic and should be accepted as a natural variation in the human genome 313 These movements are not without detractors a common argument against neurodiversity activists is that most of them have relatively low support needs or are self diagnosed and do not represent the views of autistic people with higher support needs 330 331 332 Jacquiline den Houting explores this critique determining that the voices of low support needs autistics are some of the most influential within the neurodiversity movement although admittedly these voices are a minority within the advocacy community she suggests this is in part a shortcoming of the wider neurotypical community referencing non speaking self advocate Amy Sequenzia s writing 333 334 undue weight discuss Pier Jaarsma and Stellan Welin make the argument that only high functioning autistic people should be included under the neurodiversity banner as low functioning autists condition may rightfully be viewed as a disability 335 The concept of neurodiversity is contentious in autism advocacy and research groups and has led to infighting 336 337 Symbols and flags Over the years multiple organizations have tried to capture the essence of autism in symbols In 1963 the board for the National Autistic Society led by Gerald Gasson proposed the puzzle piece as a symbol for autism because it fit their view of autism as a puzzling condition 338 In 1999 the Autism Society adopted the puzzle ribbon as the universal sign of autism awareness 338 In 2004 neurodiversity advocates Amy and Gwen Nelson conjured the rainbow infinity symbol It was initially the logo for their website Aspies for Freedom Nowadays the prismatic colors are often associated with the neurodiversity movement in general 339 The autism spectrum has also been symbolized by the infinity symbol itself 340 In 2018 Julian Morgan wrote the article Light It Up Gold a response to Autism Speaks s Light It Up Blue campaign launched in 2007 341 342 Aurum is Latin for gold 339 and gold has been used to symbolize autism since both words start with Au Though a consensus for a flag to unite autism and neurodiversity has not yet been established one has gained traction on Reddit 343 The flag implements a gradient to represent the Pride Movement and incorporates a golden infinity symbol as its focal point 344 While flags are symbols of solidarity they may trigger negative associations such as apparent rivalry among two or more flags 345 For this reason flags are sought that can be tailored to the personal preferences of any neurotype 346 347 nbsp Autism infinity symbol nbsp Autistic pride flag nbsp The puzzle piece symbol as used in the autism awareness ribbon used by Autism Speaks nbsp An Autistic Pride flag at a Pride is a Protest march in June 2021 Caregivers Families who care for an autistic child face added stress from a number of different causes 348 349 Parents may struggle to understand the diagnosis and to find appropriate care options They often take a negative view of the diagnosis and may struggle emotionally 350 More than half of parents over age 50 are still living with their child as about 85 of autistic people have difficulties living independently 351 Some studies also find decreased earnings among parents who care for autistic children 352 353 Siblings of children with ASD report greater admiration and less conflict with the affected sibling than siblings of unaffected children like siblings of children with Down syndrome But they reported lower levels of closeness and intimacy than siblings of children with Down syndrome siblings of people with ASD have a greater risk of negative well being and poorer sibling relationships as adults 354 LGBT identity and religious beliefs Research indicates that autistic people are substantially more likely to be LGBT particularly transgender or non binary than the general population 188 They are also significantly more likely to be non theistic 192 See alsoOutline of autism Animal model of autism Autism and memory Autism spectrum disorders in the media Autistic art Controversies in autism Global perceptions of autism List of autistic fictional characters List of films about 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