Controversies in autism

Diagnoses of autism 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, are all matters of current scientific controversy as well as inquiry.

Scientific consensus holds that vaccines do not cause autism, but popular rumors and an article in a respected scientific journal, The Lancet, provoked concern among parents. The Lancet article was retracted for making false claims and because its author was found to be on the payroll of litigants against vaccine manufacturers.[1]

Epidemiology

Most recent reviews of epidemiology estimate a prevalence of one to two cases per 1,000 people for autism, and about six per 1,000 for ASD;[2] because of inadequate data, these numbers may underestimate ASD's true prevalence.[3] 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;[2] and as-yet-unidentified environmental risk factors cannot be ruled out.[4] The risk of autism is associated with several prenatal factors, including advanced parental age and diabetes in the mother during pregnancy.[5] ASD is associated with several genetic disorders[6] and epilepsy.[7] Autism is also associated with intellectual disability.[8]

Genetics

The role of genetic influence on the Autism Spectrum Disorder 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.[9]

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.[10] A reoccurring finding is that de novo (new mutation) copy number variants are a primary cause of ASD - they alter synaptic functions; germ line mutations can produce de novo CNVs.[11] 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.[10] Loss of function variants occur in 16-18% of ASD diagnoses, which is nearly double the normal population.[9] These loss of function variants reduce function in the protein neurexin, 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, bipolar disorder, and ADHD.[12]

Gut microbiome 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[13] 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.[14] 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.[10]

Vaccines

Several controversial claims have been made with regard to autism and vaccinations, leading notably to the MMR vaccine controversy, the thiomersal controversy, and the theory of vaccine overload. A 2011 journal article described the MMR-autism connection as "the most damaging medical hoax of the last 100 years".[15]

Thimerosal

In 1999, the Centers for Disease Control (CDC) and the American Academy of Pediatrics (AAP) asked vaccine makers to remove the organomercury compound thiomersal (spelled "thimerosal" in the U.S.) from vaccines as quickly as possible, and thiomersal has been phased out of U.S. and European vaccines, except for some preparations of influenza vaccine, meningococcal vaccine, and trace amounts in the tetanus-diphtheria (Td) vaccine.[16][17] Under the FDA Modernization Act (FDAMA) of 1997, the FDA conducted a comprehensive review of the use of thimerosal in childhood vaccines. Conducted in 1999, this review found no evidence of harm from the use of thimerosal as a vaccine preservative, other than local hypersensitivity reactions.[18] The CDC and the AAP followed the precautionary principle, which assumes that there is no harm in exercising caution even if it later turns out to be unwarranted, but their 1999 action sparked confusion and controversy that has diverted attention and resources away from efforts to determine the causes of autism.[17] Since 2000, the thiomersal in child vaccines has been alleged to contribute to autism, and thousands of parents in the United States have pursued legal compensation from a federal fund.[19] A 2004 Institute of Medicine (IOM) committee favored rejecting any causal relationship between thiomersal-containing vaccines and autism.[20] Autism incidence rates increased steadily even after thiomersal was removed from childhood vaccines.[21] Currently there is no accepted scientific evidence that exposure to thiomersal is a factor in causing autism.[22]

Measles-mumps-rubella (MMR) vaccine

In the UK, the MMR vaccine was the subject of controversy after publication in The Lancet of a 1998 paper by Andrew Wakefield, et al. This article reported a study of 12 children mostly with onset autism spectrum disorders soon after administration of the vaccine.[23] During a 1998 press conference, Wakefield suggested that giving children the vaccines in three separate doses would be safer than a single vaccination. This suggestion was not supported by his paper, nor by several subsequent peer-reviewed studies that failed to show any association between the vaccine and autism.[24] It later emerged that Wakefield had received funding from litigants against vaccine manufacturers and that Wakefield had not informed colleagues or medical authorities of his conflict of interest.[25] Had this been known, the paper would not have been published in The Lancet the way that it was.[26] Wakefield has been heavily criticized on scientific grounds and for triggering a decline in vaccination rates,[27] as well as on ethical grounds for the way the research was conducted.[28] In 2004 the MMR-and-autism interpretation of the paper was formally retracted by 10 of Wakefield's 12 co-authors,[29] and in 2010 The Lancet's editors fully retracted the paper.[1]

The CDC,[30] the IOM of the National Academy of Sciences,[20] and the UK National Health Service[31] have all concluded that there is no evidence of a link between the MMR vaccine and autism. In 2009, The Sunday Times reported that Wakefield had manipulated patient data and misreported results in his 1998 paper, creating the appearance of a link with autism.[32] A 2011 article in the British Medical Journal described how the data in the study had been falsified by Wakefield so it would arrive at a predetermined conclusion.[33] An accompanying editorial in the same journal described Wakefield's work as an "elaborate fraud" which led to lower vaccination rates, putting hundreds of thousands of children at risk and diverting energy and money away from research into the true cause of autism.[34]

Vaccine overload

Following the belief that individual vaccines caused autism was the idea of vaccine overload, which claims that too many vaccines at once may overwhelm or weaken a child's immune system and lead to adverse effects.[35] Vaccine overload became popular after the Vaccine Injury Compensation Program accepted the case of nine year old Hannah Poling. Hannah had encephalopathy putting her on the autism spectrum disorder, which was believed to have worsened after getting multiple vaccines at nineteen months old.[21] There have been multiple cases reported similar to this one, which led to the belief that vaccine overload caused autism. However, scientific studies show that vaccines do not overwhelm the immune system.[21] In fact, conservative estimates predict that the immune system can respond to thousands of viruses simultaneously.[21] It is known that vaccines constitute only a tiny fraction of the pathogens already naturally encountered by a child in a typical year.[21] Common fevers and middle ear infections pose a much greater challenge to the immune system than vaccines do.[36] Other scientific findings support the idea that vaccinations, and even multiple concurrent vaccinations, do not weaken the immune system[21] or compromise overall immunity[37] because autism is not an immune-mediated disease.[21]

Celebrity Involvement

Some celebrities have spoken out on their views that autism is related to vaccination, including: Jenny McCarthy, Kristin Cavallari,[38] Toni Braxton,[38] Jim Carrey,[39] and Robert F. Kennedy, Jr[40]. Kennedy in particular published the book Thimerosal: Let the Science Speak: The Evidence Supporting the Immediate Removal of Mercury--A Known Neurotoxin--From Vaccines.[41]

Jenny McCarthy speaks out against the use of vaccines, citing that they caused autism in her son.

McCarthy, one of the most outspoken celebrities on the topic, has said her son Evan's autism diagnosis was a result of the MMR vaccine.[42] She authored Louder than Words: A Mother's Journey in Healing Autism and co-authored Healing and Preventing Autism.[43] She also founded an organization called Generation Rescue, which provides resources for families affected by autism.[44] In a September 2015 CNN Presidential debate, Donald Trump claimed to know a 2-year-old who recently got a combined vaccine, developed a tremendous fever and now is on the Autism Spectrum.[45]

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.[46] For PDD-NOS the association with intellectual disability is much weaker.[8] The diagnosis of Asperger's excludes clinically significant delays in mental or cognitive skills.[47]

A 2007 study suggested that Raven's Progressive Matrices (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 (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.[48] 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.[49]

Facilitated Communication

Facilitated communication gained immediate attention and was used by many hopeful parents of individuals with autism when it was first introduced during the early 1990s by Douglas Biklen, a professor at Syracuse University.[50] However, controversies shortly arose after several reports of sexual abuse were made by individuals using the keyboard.[51] There became a heightened concern regarding who was actually typing the messages – the individual with autism or the facilitator?

Similar studies were conducted starting in 1993 that argued facilitated communication was an ineffective technique. One reason was that autistic individuals were not able to communicate any better than they would have independently.[52] Another reason was because facilitators’ seemed to have an influence on the messages being typed by individuals with autism.[52] In 1994, the American Psychological Association officially announced that there was “no scientifically demonstrated support for its efficacy." [53]

A recent study done in 2014 examined the role of facilitators in eleven cases where children have been using facilitated communication for more than one year. They agreed that facilitated communication was not valid because the children with autism performed better on test questions only when the facilitator was also aware of the questions.[54] If the facilitator did not know the test questions or the keyboard was out of sight, those with autism were not able to answer the questions either, suggesting that facilitators unconsciously play a role in the messages being typed.[54] Much of the empirical research done during the early 1990s up to now argue that facilitated communication is an invalid alternative treatment to autism.

Despite what the scientific community claims, there are still many people using facilitated communication. In fact, Syracuse University still offers a program called Institute on Communication and Inclusion that trains facilitators to use this technique, what they now call supported typing.[50] They claim that new methods such as video-eye tracking, linguistics analysis, evidence of speech before and during typing, and message passing have demonstrated that it is the individual with autism doing the typing, not the facilitator.[50]

A study done in 2014 stated that the changes made to facilitated communication since its introduction, such as the use of multiple facilitators for one individual, has made this technique more valid such that some individuals with autism have been able to type with zero support.[55] In 2012, the Autism National Committee announced a position statement that approves the use of facilitated communication as it “has already proven to be profoundly beneficial in the lives of many people by opening the doors to reliable, trusted, and respected symbolic communication for the first time."[56]

Autism rights movement

Autism rainbow infinity
The rainbow-colored infinity symbol represents the diversity of the autism spectrum as well as the greater neurodiversity movement. Many autistic people prefer this symbol over any puzzle-piece based ones.[57]

The autism rights movement (ARM) is a social movement that encourages autistic people, their caregivers and society to adopt a position of neurodiversity, accepting autism as a variation in functioning rather than a mental disorder to be cured.[58] The ARM advocates a variety of goals including a greater acceptance of autistic behaviors;[59] therapies that teach autistic individuals coping skills rather than therapies focused on imitating behaviors of neurotypical peers;[60] the creation of social networks and events that allow autistic people to socialize on their own terms;[61] and the recognition of the Autistic community as a minority group.[62]

Autism rights or neurodiversity advocates believe that the autism spectrum is genetic and should be accepted as a natural expression of the human genome. This perspective is distinct from two other likewise distinct views: (1) the mainstream perspective that autism is caused by a genetic defect and should be addressed by targeting the autism gene(s) and (2) the perspective that autism is caused by environmental factors like vaccines and pollution and could be cured by addressing environmental causes.[58]

Anti-cure perspective

"Curing" or "treating" autism is a controversial and politicized issue. Doctors and scientists are not sure of the cause(s) of autism yet many organizations like Autism Research Institute and Autism Speaks advocate researching a cure. Members of the various autism rights organizations view autism as a way of life rather than as a disease and thus advocate acceptance over a search for a cure.[63] Some advocates believe that common therapies for the behavioral and language differences associated with autism, like applied behavior analysis, are not only misguided but also unethical.[64]

The "anti-cure perspective" endorsed by the movement is a view that autism is not a disorder, but a normal occurrence—an alternate variation in brain wiring or a less common expression of the human genome.[63] Advocates of this perspective believe that autism is a unique way of being that should be validated, supported and appreciated rather than shunned, discriminated against or eliminated.[63][65] They believe quirks and uniqueness of autistic individuals should be tolerated as the differences of any minority group should be tolerated and that efforts to eliminate autism should not be compared, for example, to curing cancer but instead to the antiquated notion of curing left-handedness.[63][66] The ARM is a part of the larger disability rights movement, and as such acknowledges the social model of disability.[67] Within the model, struggles faced by autistic people are viewed as discrimination rather than deficiencies.

John Elder Robison was a discussant for the Autism Social, Legal, and Ethical Research Special Interest Group at the 2014 International Meeting for Autism Research (IMFAR). He ended up taking the group to task, stating that the autism science community is headed for disaster if it does not change course on several factors – and noting for context the larger size of the US autistic community in proportion to other minority groups such as Jewish or Native American communities.

Robison asserted that autistic people need to be the ones providing oversight and governance for autism research. He condemned the use of words like "cure". He pointed out that researchers' explicit or implicit efforts to eradicate autistic people are a formula for disaster and need to stop. He also affirmed that memoirs and narratives written by autistic people are more trustworthy than writing about autism by nonautistics.[68]

Diagnostic complications

Although the 2013 fifth revision of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) has more specificity, it also has reports of more limited sensitivity. Due to the changes to the DSM and the lessening of sensitivity, there is the possibility that individuals who were diagnosed with autistic spectrum disorders (ASD) using the fourth revision (DSM-IV-TR) will not receive the same diagnosis with the DSM-5.

From the 933 individuals that were evaluated, 39 percent of the samples that were diagnosed with an ASD using the DSM-IV-TR criteria did not meet the DSM-5 criteria for that disorder.[69] Essentially, the DSM-5 criteria no longer classified them with having ASD, deeming them without a diagnosis. It was likely that individuals that exhibited higher cognitive functioning and had other disorders, such as Asperger's or pervasive developmental disorder not otherwise specified (PDD-NOS), were completely excluded from the criteria. Also, it is more probable that younger children who do not exhibit the entirety of the symptoms and characteristics of ASD are more at risk of being excluded by the new criteria since they could have Asperger's as Asperger's disorder does not usually show symptoms until later in childhood. Because the onset age is different in Asperger's from autism, grouping together the disorders does not typically allow or distinguish the differentiating ages of onset, which is problematic in diagnosing. It is evident, through the various studies, that the amount of people being diagnosed will be significantly diminished as well, which is prominently due to the DSM-5's new criteria.[69]

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