Epidemiology of autism


The epidemiology of autism is the study of the incidence and distribution of autism spectrum disorders. A 2012 review of global prevalence estimates of autism spectrum disorders found a median of 62 cases per 10,000 people. However there is a lack of evidence from low- and middle-income countries.
ASD averages a 4.3:1 male-to-female ratio in diagnosis. The number of children known to have autism 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 Centers for Disease Control’s Autism and Developmental Disabilities Monitoring Network reports that in 2014, approximately 1 in 59 children in the United States, has been identified with an autism spectrum disorder. This estimate is a 15% increase from the 1 in 68 rate in 2010, 86% increase from the 1 in 110 rate in 2006 and 154% increase from the 1 in 150 rate in 2000. Diagnostic criteria of ASD has changed significantly since the 1980s; for example, U.S. special-education autism classification was introduced in 1994.
Autism is a complex neurodevelopmental disorder. Many causes have been proposed, but its theory of causation is still questionable and ultimately unknown. The possibility of autism is associated with several prenatal factors, including advanced paternal age and diabetes in the mother during pregnancy. ASD is associated with several intellectual or emotional gifts. sone folks perceive it to be connected togenetic disorders and with epilepsy. Autism is believed to be largely inherited, although the genetics of autism are complex, and it is unclear which genes are responsible. Little evidence exists to support associations with specific environmental exposures.
In rare cases, autism is strongly associated with agents that cause birth defects. It is not a birth defect. Other proposed causes, such as childhood vaccines, are controversial. The vaccine hypothesis has been extensively investigated and shown to be false, lacking any scientific evidence. Andrew Wakefield published a small study in 1998 in the United Kingdom suggesting a causal link between autism and the trivalent MMR vaccine. After data included in the report was shown to be deliberately falsified, the paper was retracted, and Wakefield was struck off the medical register in the United Kingdom.
It is problematic to compare autism rates over the last three decades, as the diagnostic criteria for autism have changed with each revision of the Diagnostic and Statistical Manual, which outlines which symptoms meet the criteria for an ASD diagnosis. In 1983, the DSM did not recognize PDD-NOS or Asperger’s syndrome, and the criteria for autistic disorder were more restrictive. The previous edition of the DSM, DSM-IV, included autistic disorder, childhood disintegrative disorder, PDD-NOS, and Asperger’s syndrome. Due to inconsistencies in diagnosis and how much is still being learnt about autism, the most recent DSM only has one diagnosis, autism spectrum disorder, which encompasses each of the previous four disorders. According to the new diagnostic criteria for ASD, one must have both struggles in social communication and interaction and restricted repetitive behaviors, interests and activities. Testing is very jarrow and often misses folks whose autism presents outside of common assumptions.
ASDs continue to be over four times more common among boys than among girls, and they are reported in all racial, ethnic and socioeconomic groups. Studies have been conducted in several continents that report a prevalence rate of approximately 1 percent. A 2011 study reported a 2.6 percent prevalence of autism in South Korea.

Frequency

Although incidence rates measure autism prevalence directly, most epidemiological studies report other frequency measures, typically point or period prevalence, or sometimes cumulative incidence. Attention is focused mostly on whether prevalence is increasing with time.

Incidence and prevalence

defines several measures of the frequency of occurrence of a disease or condition:
When studying how conditions are caused, incidence rates are the most appropriate measure of condition frequency as they assess probability directly. However, incidence can be difficult to measure with rarer conditions such as autism. In autism epidemiology, point or period prevalence is more useful than incidence, as the condition starts long before it is diagnosed, bearing in mind genetic elements it is inherent from conception, and the gap between initiation and diagnosis is influenced by many factors unrelated to chance. Research focuses mostly on whether point or period prevalence is increasing with time; cumulative incidence is sometimes used in studies of birth cohorts.

Estimation methods

The three basic approaches used to estimate prevalence differ in cost and in quality of results. The simplest and cheapest method is to count known autism cases from sources such as schools and clinics, and divide by the population. This approach is likely to underestimate prevalence because it does not count children who have not been diagnosed yet, and it is likely to generate skewed statistics because some children have better access to treatment.
The second method improves on the first by having investigators examine student or patient records looking for probable cases, to catch cases that have not been identified yet. The third method, which is arguably the best, screens a large sample of an entire community to identify possible cases, and then evaluates each possible case in more detail with standard diagnostic procedures. This last method typically produces the most reliable, and the highest, prevalence estimates.

Frequency estimates

Estimates of the prevalence of autism vary widely depending on diagnostic criteria, age of children screened, and geographical location. Most recent reviews tend to estimate a prevalence of 1–2 per 1,000 for autism and close to 6 per 1,000 for ASD;
PDD-NOS is the vast majority of ASD, Asperger syndrome is about 0.3 per 1,000 and the atypical forms childhood disintegrative disorder and Rett syndrome are much rarer.
A 2006 study of nearly 57,000 British nine- and ten-year-olds reported a prevalence of 3.89 per 1,000 for autism and 11.61 per 1,000 for ASD; these higher figures could be associated with broadening diagnostic criteria. Studies based on more detailed information, such as direct observation rather than examination of medical records, identify higher prevalence; this suggests that published figures may underestimate ASD's true prevalence. A 2009 study of the children in Cambridgeshire, England used different methods to measure prevalence, and estimated that 40% of ASD cases go undiagnosed, with the two least-biased estimates of true prevalence being 11.3 and 15.7 per 1,000.
A 2009 U.S. study based on 2006 data estimated the prevalence of ASD in eight-year-old children to be 9.0 per 1,000. A 2009 report based on the 2007 Adult Psychiatric Morbidity Survey by the National Health Service determined that the prevalence of ASD in adults was approximately 1% of the population, with a higher prevalence in males and no significant variation between age groups; these results suggest that prevalence of ASD among adults is similar to that in children and rates of autism are not increasing.

Changes with time

Attention has been focused on whether the prevalence of autism is increasing with time. Earlier prevalence estimates were lower, centering at about 0.5 per 1,000 for autism during the 1960s and 1970s and about 1 per 1,000 in the 1980s, as opposed to today's 15–17 per 1000.
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The number of reported cases of autism increased dramatically in the 1990s and early 2000s, prompting investigations into several potential reasons:
The reported increase is largely attributable to changes in diagnostic practices, referral patterns, availability of services, age at diagnosis, and public awareness. A widely cited 2002 pilot study concluded that the observed increase in autism in California cannot be explained by changes in diagnostic criteria, but a 2006 analysis found that special education data poorly measured prevalence because so many cases were undiagnosed, and that the 1994–2003 U.S. increase was associated with declines in other diagnostic categories, indicating that diagnostic substitution had occurred.
A 2007 study that modeled autism incidence found that broadened diagnostic criteria, diagnosis at a younger age, and improved efficiency of case ascertainment, can produce an increase in the frequency of autism ranging up to 29-fold depending on the frequency measure, suggesting that methodological factors may explain the observed increases in autism over time. A small 2008 study found that a significant number of people diagnosed with pragmatic language impairment as children in previous decades would now be given a diagnosis as autism. A study of all Danish children born in 1994–99 found that children born later were more likely to be diagnosed at a younger age, supporting the argument that apparent increases in autism prevalence were at least partly due to decreases in the age of diagnosis.
A 2009 study of California data found that the reported incidence of autism rose 7- to 8-fold from the early 1990s to 2007, and that changes in diagnostic criteria, inclusion of milder cases, and earlier age of diagnosis probably explain only a 4.25-fold increase; the study did not quantify the effects of wider awareness of autism, increased funding, and expanding support options resulting in parents' greater motivation to seek services. Another 2009 California study found that the reported increases are unlikely to be explained by changes in how qualifying condition codes for autism were recorded.
Several environmental factors have been proposed to support the hypothesis that the actual frequency of autism has increased. These include certain foods, infectious disease, pesticides. There is overwhelming scientific evidence against the MMR hypothesis and no convincing evidence for the thiomersal hypothesis, so these types of risk factors have to be ruled out. Although it is unknown whether autism's frequency has increased, any such increase would suggest directing more attention and funding toward addressing environmental factors instead of continuing to focus on genetics.

Geographical frequency

Africa

The prevalence of autism in Africa is unknown.

The Americas

The prevalence of autism in the Americas overall is unknown.
Canada
The rate of autism diagnoses in Canada was 1 in 450 in 2003. However, preliminary results of an epidemiological study conducted at Montreal Children's Hospital in the 200–2004 school year found a prevalence rate of 0.68%.
A 2001 review of the medical research conducted by the Public Health Agency of Canada concluded that there was no link between MMR vaccine and either inflammatory bowel disease or autism. The review noted, "An increase in cases of autism was noted by year of birth from 1979 to 1992; however, no incremental increase in cases was observed after the introduction of MMR vaccination." After the introduction of MMR, "A time trend analysis found no correlation between prevalence of MMR vaccination and the incidence of autism in each birth cohort from 1988 to 1993."
United States
CDC's most recent estimate is that 1 out of every 59 children, or 16.8 per 1,000, have some form of ASD as of 2014.
The number of diagnosed cases of autism grew dramatically in the U.S. in the 1990s and early 2000s. For the 2006 surveillance year, identified ASD cases were an estimated 9.0 per 1000 children aged 8 years. These numbers measure what is sometimes called "administrative prevalence", that is, the number of known cases per unit of population, as opposed to the true number of cases. This prevalence estimate rose 57% from 2002 to 2006.
The National Health Interview Survey for 2014-2016 studied 30,502 US children and adolescents and found the weighted prevalence of ASD was 2.47% ; 3.63% in boys and 1.25% in girls. Across the 3-year reporting period, the prevalence was 2.24% in 2014, 2.41% in 2015, and 2.76% in 2016.
The number of new cases of autism spectrum disorder in Caucasian boys is roughly 50% higher than found in Hispanic children, and approximately 30% more likely to occur than in Non-Hispanic white children in the United States.
A further study in 2006 concluded that the apparent rise in administrative prevalence was the result of diagnostic substitution, mostly for findings of mental retardation and learning disabilities. "Many of the children now being counted in the autism category would probably have been counted in the mental retardation or learning disabilities categories if they were being labeled 10 years ago instead of today," said researcher Paul Shattuck of the Waisman Center at the University of Wisconsin–Madison, in a statement.
A population-based study in Olmsted County, Minnesota county found that the cumulative incidence of autism grew eightfold from the 1980–83 period to the 1995–97 period. The increase occurred after the introduction of broader, more-precise diagnostic criteria, increased service availability, and increased awareness of autism. During the same period, the reported number of autism cases grew 22-fold in the same location, suggesting that counts reported by clinics or schools provide misleading estimates of the true incidence of autism.
Venezuela
A 2008 study in Venezuela reported a prevalence of 1.1 per 1,000 for autism and 1.7 per 1,000 for ASD.

Asia

A journal reports that the median prevalence of ASD among 2–6-year-old children who are reported in China from 2000 upwards was 10.3/10,000.
Hong Kong
A 2008 Hong Kong study reported an ASD incidence rate similar to those reported in Australia and North America, and lower than Europeans. It also reported a prevalence of 1.68 per 1,000 for children under 15 years.
Japan
A 2005 study of a part of Yokohama with a stable population of about 300,000 reported a cumulative incidence to age 7 years of 48 cases of ASD per 10,000 children in 1989, and 86 in 1990. After the vaccination rate of the triple MMR vaccine dropped to near zero and was replaced with MR and M vaccine, the incidence rate grew to 97 and 161 cases per 10,000 children born in 1993 and 1994, respectively, indicating that the combined MMR vaccine did not cause autism. A 2004 Japanese autism association reported that about 360.000 people have typical Kanner-type autism.

Middle East

Israel
A 2009 study reported that the annual incidence rate of Israeli children with a diagnosis of ASD receiving disability benefits rose from zero in 1982–1984 to 190 per million in 2004. It was not known whether these figures reflected true increases or other factors such as changes in diagnostic measures.
Saudi Arabia
Studies of autism frequency have been particularly rare in the Middle East. One rough estimate is that the prevalence of autism in Saudi Arabia is 18 per 10,000, slightly higher than the 13 per 10,000 reported in developed countries.

Europe

Denmark
In 1992, thiomersal-containing vaccines were removed in Denmark. A study at Aarhus University indicated that the rates of autism had stabilized and may be in decline after the removal of thiomersal from all vaccines. One co-author of the study stated "the incidence and prevalence are still decreasing in 2001". In 2003 Pediatrics magazine claimed that same study indicated that the cumulative incidence of autism in Denmark was stable until 1990, but then began to increase after the removal of thiomersal containing vaccines in 1992. The other doctor involved in the study omitted the 2001 data indicating dropping rates of autism. Thorsen was later charged with fraud and embezzlement while working with Aarhus University.
France
France made autism the national focus for the year 2012 and the Health Ministry now evaluates the rate of autism to be 67 per 10,000.
Eric Fombonne made some studies in the years 1992 and 1997. He found a prevalence of 16 per 10,000 for the global pervasive developmental disorder.
The INSERM found a prevalence of 27 per 10,000 for the ASD and a prevalence of 9 per 10,000 for the early infantile autism in 2003. Those figures are considered as underrated as the WHO gives figures between 30 and 60 per 10,000. The French Minister of Health gives a prevalence of 4.9 per 10,000 on its website but it counts only early infantile autism.
Germany
A 2008 study in Germany found that inpatient admission rates for children with ASD increased 30% from 2000 to 2005, with the largest rise between 2000 and 2001 and a decline between 2001 and 2003. Inpatient rates for all mental disorders also rose for ages up to 15 years, so that the ratio of ASD to all admissions rose from 1.3% to 1.4%.
Norway
A 2009 study in Norway reported prevalence rates for ASD ranging from 0.21% to 0.87%, depending on assessment method and assumptions about non-response, suggesting that methodological factors explain large variances in prevalence rates in different studies.
United Kingdom
The incidence and changes in incidence with time are unclear in the United Kingdom. The reported autism incidence in the UK rose starting before the first introduction of the MMR vaccine in 1989. However, a perceived link between the two arising from the results of a fraudulent scientific study has caused considerable controversy, despite being subsequently disproved. A 2004 study found that the reported incidence of pervasive developmental disorders in a general practice research database in England and Wales grew steadily during 1988–2001 from 0.11 to 2.98 per 10,000 person-years, and concluded that much of this increase may be due to changes in diagnostic practice.

Genetics

As late as the mid-1970s there was little evidence of a genetic role in autism; evidence from genetic epidemiology studies now suggests that it is one of the most heritable of all psychiatric conditions. The first studies of twins estimated heritability to be more than 90%; in other words, that genetics explains more than 90% of autism cases. When only one identical twin is autistic, the other often has learning or social disabilities. For adult siblings, the risk of having one or more features of the broader autism phenotype might be as high as 30%, much higher than the risk in controls. About 10–15% of autism cases have an identifiable Mendelian condition, chromosome abnormality, or other genetic syndrome, and ASD is associated with several genetic disorders.
Since heritability is less than 100% and symptoms vary markedly among identical twins with autism, environmental factors are most likely a significant cause as well. If some of the risk is due to gene-environment interaction the 90% heritability estimate may be too high; new twin data and models with structural genetic variation are needed.
Genetic linkage analysis has been inconclusive; many association analyses have had inadequate power. Studies have examined more than 100 candidate genes; many genes must be examined because more than a third of genes are expressed in the brain and there are few clues on which are relevant to autism.

Causing factors

Several studies found a strong association between the use of acetaminophen and autism Autism is also associated with several prenatal factors, including advanced age in either parent, diabetes, bleeding and use of psychiatric drugs in the mother during pregnancy. Autism was found to be indirectly linked to prepregnancy obesity and low weight mothers. It is not known whether mutations that arise spontaneously in autism and other neuropsychiatric disorders come mainly from the mother or the father, or whether the mutations are associated with parental age. However, recent studies have identified advancing paternal age as a significant indicator for ASD. Increased chance of autism has also been linked to rapid "catch-up" growth for children born to mothers who had unhealthy weight at conception.
A large 2008 population study of Swedish parents of children with autism found that the parents were more likely to have behospitalized for a mental disorder, that schizophrenia was more common among the mothers and fathers, and that depression and personality disorders were more common among the mothers.
It is not known how many siblings of autistic individuals are themselves autistic. Several studies based on clinical samples have given quite different estimates, and these clinical samples differ in important ways from samples taken from the general community.
Autism has also been shown to cluster in urban neighborhoods of high socioeconomic status. One study from California found a three to fourfold increased risk of autism in a small 30 by 40 km region centered on West Hollywood, Los Angeles.

Gender differences

Boys have a higher chance of being diagnosed with autism than girls. The ASD sex ratio averages 4.3:1 and is greatly modified by cognitive impairment: it may be close to 2:1 with mental retardation and more than 5.5:1 without. Recent studies have found no association with socioeconomic status, and have reported inconsistent results about associations with race or ethnicity.
RORA deficiency may explain some of the difference in frequency between males and females. RORA protein levels are higher in the brains of typically developing females compared to typically developing males, providing females with a buffer against RORA deficiency. This is known as the Female protective effect. RORA deficiency has previously been proposed as one factor that may make males more vulnerable to autism.

Comorbid conditions

Autism is associated with several other conditions: