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Diagnoses of
autism The autism spectrum, often referred to as just autism or in the context of a professional diagnosis autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental condition (or conditions) characterized by difficulti ...
have become more frequent since the 1980s, which has led to various controversies about both the cause of autism and the nature of the diagnoses themselves. Whether autism has mainly a genetic or developmental cause, and the degree of coincidence between autism and
intellectual disability Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation,Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by signifi ...
, are all matters of current
scientific controversy Controversies involving science exists in all aspects. Sometimes defined as a "''persistent disagreement''" over knowledge, the contrasting opinions of certain topics leaves individuals in a tense setting. A scientific controversy is a substanti ...
as well as inquiry. There is also more sociopolitical debate as to whether autism should be considered a
disability Disability is the experience of any condition that makes it more difficult for a person to do certain activities or have equitable access within a given society. Disabilities may be Cognitive disability, cognitive, Developmental disability, dev ...
on its own.


Epidemiology

The current accepted prevalence of
autism spectrum disorder The autism spectrum, often referred to as just autism or in the context of a professional diagnosis autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental condition (or conditions) characterized by difficulti ...
(ASD) are around 1%, although previous research has shown far lower rates of incidence. ASD averages a 4.3:1 male-to-female ratio. The number of children on the autism spectrum has increased dramatically since the 1980s, at least partly due to changes in diagnostic practice; it is unclear whether prevalence has actually increased; and as-yet-unidentified environmental risk factors cannot be ruled out. The risk of autism is associated with several prenatal factors, including advanced parental age and diabetes in the mother during pregnancy. ASD is associated with several
genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ...
s and epilepsy.


Genetics

The role of genetic influence on ASD has been heavily researched over the past few years. ASD is considered to have polygenic traits since there is not a single risk factor, but multiple ones. Multiple twin and family studies have been conducted in order to observe any genetic influence in diagnosing ASD. The chance of both twins having ASD was significantly higher in identical twins than fraternal twins, concluding that ASD is heritable. A reoccurring finding is that ''de novo'' (new mutation)
copy number variants Copy number variation (CNV) is a phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals. Copy number variation is a type of structural variation: specifically, it is a type of G ...
(CNVs) are a primary cause of ASD – they alter synaptic functions; germ line mutations can produce ''de novo'' CNVs. These mutations can only be passed on to offspring; this explains the phenomenon that occurs when the child has symptoms of ASD, but the parents have no symptoms or history of ASD. ''De novo'' variants differ from person to person, i.e. one variant can cause ASD in one person, whereas another person would need multiple variants to cause the same disorder. Loss of function variants occur in 16-18% of ASD diagnoses, which is nearly double the normal population. These loss of function variants reduce function in the protein
neurexin Neurexins (NRXN) are a family of presynaptic cell adhesion proteins that have roles in connecting neurons at the synapse. They are located mostly on the presynaptic membrane and contain a single transmembrane domain. The extracellular dom ...
, which connects neurons at the synapse and is important for neurological development; deletion mutations of neurexin are also very common in people with autism, as well as other neurological disorders like
schizophrenia Schizophrenia is a mental disorder characterized by continuous or relapsing episodes of psychosis. Major symptoms include hallucinations (typically hearing voices), delusions, and disorganized thinking. Other symptoms include social withdra ...
,
bipolar disorder Bipolar disorder, previously known as manic depression, is a mental disorder characterized by periods of depression and periods of abnormally elevated mood that last from days to weeks each. If the elevated mood is severe or associated with ...
, and ADHD. Gut
microbiome A microbiome () is the community of microorganisms that can usually be found living together in any given habitat. It was defined more precisely in 1988 by Whipps ''et al.'' as "a characteristic microbial community occupying a reasonably wel ...
has a relation to ASD. Excessive ''Clostridia'' spp. was found in children with ASD and gastrointestinal difficulties; ''Clostridia'' spp produces propionic acid, which is impaired or in excess in people with ASD. Specifically, ''C. tetani'' and ''C. histolyticum'' are two species of this bacteria that affect people with ASD. ''C. tetani'' produces tetanus neurotoxin in the intestinal tract; ''C. histolyticum'' is a toxin producer that is abundant in people diagnosed with ASD. Both of these could contribute to neurological symptoms. There is also controversy over the Nature vs. Nurture debate. According to family studies, genetic and environmental factors have an equal influence on risk of ASD.


Vaccines

A later-retracted article from ''
The Lancet ''The Lancet'' is a weekly peer-reviewed general medical journal and one of the oldest of its kind. It is also the world's highest-impact academic journal. It was founded in England in 1823. The journal publishes original research articles, ...
'' making false claims provoked concern about vaccines among parents. Its author was found to be on the payroll of litigants against vaccine manufacturers. * The idea of a link between vaccines and autism was extensively investigated and shown to be false. The
scientific consensus Scientific consensus is the generally held judgment, position, and opinion of the majority or the supermajority of scientists in a particular field of study at any particular time. Consensus is achieved through scholarly communication at confe ...
is that there is no relationship, causal or otherwise, between vaccines and incidence of autism, and vaccine ingredients do not cause autism. Nevertheless, the anti-vaccination movement continues to promote myths,
conspiracy theories A conspiracy theory is an explanation for an event or situation that invokes a conspiracy by sinister and powerful groups, often political in motivation, when other explanations are more probable.Additional sources: * * * * The term has a nega ...
and misinformation linking the two. A developing tactic appears to be the "promotion of irrelevant research san active aggregation of several questionable or peripherally related research studies in an attempt to justify the science underlying a questionable claim."


Intelligence

The percentage of autistic individuals who also meet criteria for intellectual disability has been reported as anywhere from 25% to 70%, a wide variation illustrating the difficulty of assessing autistic intelligence. For
pervasive developmental disorder not otherwise specified A pervasive developmental disorder not otherwise specified (Including atypical autism) (PDD-NOS) is one of four disorders which were collapsed into the diagnosis of autism spectrum disorder in the DSM-5 and also was one of the five disorders cla ...
(PDD-NOS), the association with intellectual disability is much weaker. The diagnosis of
Asperger syndrome Asperger syndrome (AS), also known as Asperger's, is a former neurodevelopmental disorder characterized by significant difficulties in social interaction and nonverbal communication, along with restricted and repetitive patterns of beha ...
excludes clinically significant delays in mental or cognitive skills. A 2007 study suggested that
Raven's Progressive Matrices Raven's Progressive Matrices (often referred to simply as Raven's Matrices) or RPM is a non-verbal test typically used to measure general human intelligence and abstract reasoning and is regarded as a non-verbal estimate of fluid intelligence. I ...
(RPM), a test of abstract reasoning, may be a better indicator of intelligence for autistic children than the more commonly used
Wechsler Intelligence Scale for Children The Wechsler Intelligence Scale for Children (WISC) is an individually administered intelligence test for children between the ages of 6 and 16. The Fifth Edition (WISC-V; Wechsler, 2014) is the most recent version. The WISC-V takes 45 to 65 minu ...
(WISC). Researchers suspected that the WISC relied too heavily on language to be an accurate measure of intelligence for autistic individuals. Their study revealed that the neurotypical children scored similarly on both tests, but the autistic children fared far better on the RPM than on the WISC. The RPM measures abstract, general and fluid reasoning, an ability autistic individuals have been presumed to lack. A 2008 study found a similar effect, but to a much lesser degree and only for individuals with IQs less than 85 on the Wechsler scales.


Facilitated communication

Facilitated communication (FC) is a scientifically discredited technique that attempts to facilitate communication by people with severe educational and communication disabilities. The facilitator holds or gently touches the disabled person's arm or hand during this process and attempts to help them move to type on a special keyboard. It was used by many hopeful parents of individuals with autism when it was first introduced during the early 1990s by
Douglas Biklen Douglas Paul Biklen (born September 8, 1945) is an American educator, fine art photographer, and leading proponent of facilitated communication, a scientifically discredited technique which purports to allow non-verbal people (particularly those ...
, a professor at Syracuse University. There is widespread agreement within the scientific community and multiple disability advocacy organizations that FC is not a valid technique for authentically augmenting the communication skills of those with autism spectrum disorder. Instead, research indicates that the facilitator is the source of the messages obtained through FC (involving
ideomotor effect The ideomotor phenomenon is a psychological phenomenon wherein a subject makes motions unconsciously. Also called ideomotor response (or ideomotor reflex) and abbreviated to IMR, it is a concept in hypnosis and psychological research. It is der ...
guidance of the arm of the patient by the facilitator). Thus, studies have consistently found that patients are unable to provide the correct response to even simple questions when the facilitator does not know the answers to the questions (e.g., showing the patient but not the facilitator an object). In addition, numerous cases have been reported by investigators in which disabled persons were assumed by facilitators to be typing a coherent message while the patient's eyes were closed or while they were looking away from or showing no particular interest in the letter board. Despite the evidence opposing FC, many continue to use and promote this technique. Note that facilitated communication is separate and different from a range of scientifically supported augmentative and alternative communication (AAC) devices and processes that facilitate communication for people with communication difficulties.


Advocacy initiatives

There are two major conceptualizations of autism within autism advocacy. Those who favour the pathology paradigm, which aligns with the
medical model of disability The medical model of disability, or medical model, is based in a biomedical perception of disability. This model links a disability diagnosis to an individual's physical body. The model supposes that this disability may reduce the individual's qua ...
, see autism as a disorder to be treated or cured. Those who favor the pathology paradigm argue that atypical behaviors of autistic individuals are detrimental and should therefore be reduced or eliminated through
behavior modification Behavior modification is an early approach that used respondent and operant conditioning to change behavior. Based on methodological behaviorism, overt behavior was modified with consequences, including positive and negative reinforcement conti ...
therapies. Their advocacy efforts focus primarily on medical research to identify genetic and environmental risk factors in autism. Those who favour the neurodiversity paradigm, which aligns with the
social model of disability The social model of disability identifies systemic barriers, derogatory attitudes, and social exclusion (intentional or inadvertent), which make it difficult or impossible for disabled people to attain their valued functionings. The social mode ...
, see autism as a naturally-occurring variation in the brain. Neurodiversity advocates argue that efforts to eliminate autism should not be compared, for example, to curing cancer, but instead to the antiquated notion of curing
left-handedness In human biology, handedness is an individual's preferential use of one hand, known as the dominant hand, due to it being stronger, faster or more dextrous. The other hand, comparatively often the weaker, less dextrous or simply less subject ...
. Their advocacy efforts focus primarily on acceptance, accommodation, and support for autistic people as "neuro-minorities" in society. These two paradigms are not fully exclusive, and many people hold a combination of these viewpoints.


Pathology paradigm

The pathology paradigm is the traditional view of
autism The autism spectrum, often referred to as just autism or in the context of a professional diagnosis autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental condition (or conditions) characterized by difficulti ...
through a biomedical lens, in which it is seen as a disorder characterized by various impairments, mainly in communication and social interaction. Those taking this perspective believe that autism is generally a kind of harmful dysfunction. Ways of functioning which diverge from a typical brain are "incorrect" or "unhealthy" and must therefore be treated or cured. The atypical behaviors of autistic individuals are considered a detriment to social and professional success and should therefore be reduced or eliminated through
therapy A therapy or medical treatment (often abbreviated tx, Tx, or Tx) is the attempted remediation of a health problem, usually following a medical diagnosis. As a rule, each therapy has indications and contraindications. There are many different ...
. Advocates with this view include both a small but significant minority of autistic adults and large majority of parents of autistic children, but contain a higher percentage of parents when compared to those adopting the neurodiversity paradigm. These advocates believe that medical research is necessary to address the "autism epidemic", reduce suffering, and provide the best outcomes for autistic individuals. In addition to etiological research, other areas of focus may include biology, diagnosis, and treatment, including medication, behavioural and psychological interventions, and the treatment of co-existing medical conditions. Advocacy groups that focus primarily on medical research include
Autism Speaks Autism Speaks Inc. is a controversial autism advocacy organization and the largest autism research organization in the United States. It sponsors autism research and conducts awareness and outreach activities aimed at families, governments, an ...
, the Autism Science Foundation, and its predecessor organizations, the Autism Coalition for Research and Education, the
National Alliance for Autism Research The National Alliance for Autism Research (NAAR), based in Princeton, New Jersey, was a non-profit advocacy organization, founded by parents of children with autism concerned about the limited funding available for research. Origins and activitie ...
, and
Cure Autism Now Autism Speaks Inc. is a controversial autism advocacy organization and the largest autism research organization in the United States. It sponsors autism research and conducts awareness and outreach activities aimed at families, governments, a ...
, and the former Autism Research Institute.


Neurodiversity paradigm

The neurodiversity paradigm is a view of autism as a different way of being rather than as a disease or disorder that must be cured. Autistic people are considered to have neurocognitive differences which give them distinct strengths and weaknesses, and are capable of succeeding when appropriately accommodated and supported. The belief is that efforts to eliminate autism should not be compared, for example, to curing cancer but instead to the antiquated notion of curing
left-handedness In human biology, handedness is an individual's preferential use of one hand, known as the dominant hand, due to it being stronger, faster or more dextrous. The other hand, comparatively often the weaker, less dextrous or simply less subject ...
. There is no leader of the neurodiversity movement and little academic research has been conducted on it as a social phenomenon. As such, proponents of the neurodiversity paradigm have heterogenous beliefs, but are consistent in the view that autism cannot be separated from an autistic person. Advocacy efforts may include accommodations in schools and work environments, lobbying for the inclusion of autistic people when making decisions that affect them, and opposition to therapies that aim to make children "indistinguishable from their peers". Neurodiversity advocates are opposed to medical research for a cure, believing that it will lead to
eugenics Eugenics ( ; ) is a fringe set of beliefs and practices that aim to improve the genetic quality of a human population. Historically, eugenicists have attempted to alter human gene pools by excluding people and groups judged to be inferior o ...
, and instead support research that helps autistic people thrive as they are. For example, '' NeuroTribes'' author
Steve Silberman Steve Silberman is an American writer for ''Wired'' magazine and has been an editor and contributor there for 14 years. In 2010, Silberman was awarded the AAAS "Kavli Science Journalism Award for Magazine Writing." His featured article "The Pla ...
noted a lack of research in regards to seizure-controlling drugs and autistic brains; that sensory differences in autistic people were unheard of until
Temple Grandin Mary Temple Grandin (born August 29, 1947) is an American academic and animal behaviorist. She is a prominent proponent for the humane treatment of livestock for slaughter and the author of more than 60 scientific papers on animal behavior. Gra ...
spoke about her experiences; and that only a small percentage of research funding goes towards the needs of autistic adults. Advocacy groups that focus primarily on acceptance and accommodation include
Autism Network International Autism Network International (ANI) is an advocacy organization run by and for autistic people. ANI's principles involve the anti-cure perspective, the perspective that there should not be a goal to "cure" people of autism. History ANI was sta ...
, Autism National Committee, Autistic Self Advocacy Network, and Autistic Women & Nonbinary Network.


Further reading

* Decoteau, C. L., & Daniel, M. (2020). Scientific Hegemony and the Field of Autism. ''American Sociological Review''.


See also

*
Neurodiversity Neurodiversity refers to diversity in the human brain and cognition, for instance in sociability, learning, attention, mood and other mental functions. It was coined in 1998 by sociologist Judy Singer, who helped popularize the concept alo ...


References

{{Autism resources Autism Medical controversies Open problems