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Epidemiology of autism

The epidemiology of autism is the study of the incidence and distribution of autism spectrum disorders (ASD). A 2022 systematic review of global prevalence of autism spectrum disorders found a median prevalence of 1% in children in studies published from 2012 to 2021, 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.[1][2]

Further information: Causes of autism

ASD averages a 4.3:1 male-to-female ratio in diagnosis, not accounting for ASD in gender diverse populations, which overlap disproportionately with ASD populations.[3] 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;[4] and as-yet-unidentified environmental risk factors cannot be ruled out.[5] 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.[6] This estimate is a 10% increase from the 1 in 59 rate in 2014, 105% increase from the 1 in 110 rate in 2006 and 176% increase from the 1 in 150 rate in 2000.[6] Diagnostic criteria of ASD has changed significantly since the 1980s; for example, U.S. special-education autism classification was introduced in 1994.[4]


ASD is a complex neurodevelopmental disorder, and although what causes it is still not entirely known, efforts have been made to outline causative mechanisms and how they give rise to the disorder.[7] The risk of developing autism is increased in the presence of various prenatal factors, including advanced paternal age and diabetes in the mother during pregnancy.[8] In rare cases, autism is strongly associated with agents that cause birth defects.[9] It has been shown to be related to genetic disorders[10] and with epilepsy.[11] ASD is believed to be largely inherited, although the genetics of ASD are complex and it is unclear which genes are responsible.[4][12][13][14] ASD is also associated with several intellectual or emotional gifts, which has led to a variety of hypotheses from within evolutionary psychiatry that autistic traits have played a beneficial role over human evolutionary history.[15][16]


Other proposed causes of autism have been controversial. The vaccine hypothesis has been extensively investigated and shown to be false,[17] lacking any scientific evidence.[5] 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.[18][19][20]


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 (DSM), 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 (AD) 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 (DSM-5) only has one diagnosis, autism spectrum disorder (ASD), 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 (RRBs).


ASD diagnoses continue to be over four times more common among boys (1 in 34) than among girls (1 in 154), and they are reported in all racial, ethnic and socioeconomic groups. Studies have been conducted in several continents (Asia, Europe and North America) that report a prevalence rate of approximately 1 to 2 percent.[6] A 2011 study reported a 2.6 percent prevalence of autism in South Korea.[21]

The of a condition is the rate at which new cases occurred per person-year, for example, "2 new cases per 1,000 person-years".

incidence rate

The is the proportion of a population that became new cases within a specified time period, for example, "1.5 per 1,000 people became new cases during 2006".

cumulative incidence

The of a condition is the proportion of a population that had the condition at a single point in time, for example, "10 cases per 1,000 people at the start of 2006".

point prevalence

The is the proportion that had the condition at any time within a stated period, for example, "15 per 1,000 people had cases during 2006".

period prevalence

. About 10–15% of autism cases have an identifiable Mendelian (single-gene) condition, chromosome abnormality, or other genetic syndrome,[76] and ASD is associated with several genetic disorders.[10]

Genetic disorders

. The fraction 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.[100]

Intellectual disability

are common among children with ASD, although there are no firm data.[101] Symptoms include generalized anxiety and separation anxiety,[102] and are likely affected by age, level of cognitive functioning, degree of social impairment, and ASD-specific difficulties. Many anxiety disorders, such as social phobia, are not commonly diagnosed in people with ASD because such symptoms are better explained by ASD itself, and it is often difficult to tell whether symptoms such as compulsive checking are part of ASD or a co-occurring anxiety problem. The prevalence of anxiety disorders in children with ASD has been reported to be anywhere between 11% and 84%.[101]

Anxiety disorders

, with variations in risk of epilepsy due to age, cognitive level, and type of language disorder; 5–38% of children with autism have comorbid epilepsy, and only 16% of these have remission in adulthood.[11]

Epilepsy

Several , such as phenylketonuria, are associated with autistic symptoms.[103]

metabolic defects

are significantly increased in the autistic population.[104]

Minor physical anomalies

Preempted diagnoses. Although the DSM-IV rules out concurrent diagnosis of many other conditions along with autism, the full criteria for , Tourette syndrome, and other of these conditions are often present and these comorbid diagnoses are increasingly accepted.[105] A 2008 study found that nearly 70% of children with ASD had at least one psychiatric disorder, including nearly 30% with social anxiety disorder and similar proportions with ADHD and oppositional defiant disorder.[106] Childhood-onset schizophrenia, a rare and severe form, is another preempted diagnosis whose symptoms are often present along with the symptoms of autism.[107]

ADHD

Autism is associated with several other conditions: