Sex and gender differences in autism

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Sex and gender differences in autism exist regarding prevalence, presentation, and diagnosis.

Contents

Men and boys are more frequently diagnosed with autism than women and girls. It is debated whether this is due to a sex difference in rates of autism spectrum disorders (ASD) or whether females are underdiagnosed. [1] [2] The prevalence ratio is often cited as about 4 males for every 1 female diagnosed. [3] Other research indicates that it is closer to 3:1 or 2:1. [2] [4] One in every 42 males and one in 189 females in the United States is diagnosed with autism spectrum disorder. [5] There is some evidence that females may also receive diagnoses somewhat later than males; however, thus far results have been contradictory. [6]

Background

Hans Asperger was one of the first people to study autism, with all of his four study subjects being male. Another early researcher, Leo Kanner described "autistic disturbances of affective contact" in the group consisting of eight boys and three girls. [7]

Today, Autism Spectrum Disorder is commonly defined as a neurological developmental disorder with symptoms of poor social communication, repetitive behaviors, sensory sensitivities, executive dysfunction, and hyper-fixations. [8] In the modern day, women are less likely to be diagnosed as autistic than men; they are often misdiagnosed or not noticed to be neurodivergent by doctors. [9] Women are also more likely to be diagnosed as autistic at a later age than men. [10] There are many theories to explain this discrepancy in diagnoses, the most prominent being extreme male brain theory, imprinted brain theory, female protective effect theory, and female autism phenotype theory.

Theories explaining gender diagnosis disparity

Extreme male brain theory

Extreme male brain theory is an extension of the empathizing-systemizing theory, which categorizes people into 5 different groups based on their empathizing and systemizing expressions. In the general neurotypical population, females have a greater ability to empathize, and males have a greater ability to systemize. [11] Simon Baron-Cohen's extreme male brain theory states that autistic males have higher doses of prenatal testosterone and on average have a more systemizing brain, as opposed to the more empathizing female brain. He suggests that autistic brains show an exaggeration of the features associated with male brains. These are mainly size and connectivity, with males generally having a larger brain, [12] which is seen in an exaggerated form in those with ASD.

Individuals with ASD were found to have widespread abnormalities in interconnectivity and general functioning in specific brain regions. [13] This could explain the different results on empathy tests between men and women [14] as well as the deficiencies in empathy seen in ASD, as empathy requires several brain regions to be activated which need information from many different areas of the brain. [15] Baron-Cohen therefore argues that genetic factors play a role in autism prevalence and that children with technically minded parents are more likely to be diagnosed with autism. [16] Although autistic females have been documented to have higher testosterone levels, which could support the extreme male brain theory, not all autistic females show male-specific symptoms, leaving the extreme male brain theory with Autism Spectrum Disorder to be controversial. [11]

Imprinted brain theory

The imprinted brain theory suggests genomic imprinting is at least partly responsible for the sex differences in autism and implicates schizophrenia as well, claiming that genetic and physiological evidence suggests the two conditions are on a spectrum in which some mutations in certain genes cause lower social cognition but higher practical cognition (autism) while other mutations in the same genes cause lower practical cognition with higher social cognition (schizophrenia). [17] [18] [19]

Female protective effect theory

According to the female protective effect hypothesis, more genetic mutations are required for a girl to develop autism than for a boy. In 2012, Harvard researchers published findings suggesting that, on average, more genetic and environmental risk factors are required for girls to develop autism, compared to boys. The researchers analyzed DNA samples of nearly 800 families affected by autism and nearly 16,000 individuals with a variety of neurodevelopmental disorders. They looked for various types of gene mutations. Overall, they found that females diagnosed with autism or another neurodevelopmental disorder had a greater number of harmful mutations throughout the genome than did males with the same disorders. [20] Women with an extra X chromosome, 47,XXX or triple X syndrome, have autism-like social impairments in 32% of cases. [21]

Female autism phenotype theory

The prevalence ratio is often cited as about 4 males for every 1 female diagnosed. [3] Other research indicates that it closer to 3:1 or 2:1. [2] [22]

Some have suggested a differential phenotype for autistic women; "a female-specific manifestation of autistic strengths and difficulties, which fits imperfectly with current, male-based conceptualisations" of autism. [22] The female autism phenotype differs from the typical male autism phenotype in social relationships, relational interests, internalizing problems, and camouflaging. [23]

Some authors, clinicians and experts like Judith Gould, Tony Attwood, Lorna Wing and Christopher Gillberg [24] have proposed that autism in females may be underdiagnosed due to better natural superficial social mimicry skills in females, partially different set of symptoms and less knowledge about autism in females among experts. [25] In his preword to the book Asperger's and Girls, Attwood writes: "These tentative explanations for the apparent underrepresentation of girls with Asperger's Syndrome have yet to be examined by objective research studies." [26]

Another clinician, William Mandy, hypothesized referrals for ASD assessment are often started by teachers. Girls with ASD may sometimes lack the skills of social communication and this is not noticed until they are in a school setting. Therefore, girls suggested to have ASD may receive delayed or no clinical assessment. [27] Compared with males, females with autism are more likely to mask their restricted interests (strong or intense interests in specific topics or objects), which could decrease the chances of diagnosis. [28]

Recent literature has exemplified that autistic females present lower levels of restricted and repetitive interests. However, some studies suggest that autistic females’ interests are in areas that aren’t considered atypical or captured in the diagnostic process as compared to autistic males’ special interests. [23]

Various studies suggest that autistic females are more likely to have co-occurring internalizing disorders, while their male counterparts are more likely to have co-occurring externalizing disorders. Internalizing problems (the inward expression of emotional difficulties, in contrast to externalizing problems), while not a core feature of autism, could still affect how females present symptoms of autism. For example, more severe expressions of these co-occurring internalizing disorders could mask underlying symptoms of autism. Moreover, if males are more likely to present with co-occurring externalizing disorders, their symptoms could be more disruptive, thereby being noticed by teachers and caregivers sooner than females with autism who have co-occurring internalizing disorders. [23]

Camouflaging, the conscious or unconscious manners individuals learn or develop to hide their autistic symptoms, has been found to be more prevalent in autistic girls than boys, but other literature displays varied results. When it comes to social camouflaging, there are three sub-categories according to the Camouflaging Autistic Traits Questionnaire (CAT-Q): Masking, Assimilation, and Compensation. [29] Masking is the act of constantly monitoring one's behavior in order to hide one's autistic traits and/or putting on a fake persona. [30] [29] Assimilation is known as "hiding in plain sight" or trying to blend in with non-autistic peers. [30] Finally, compensation is trying to over-compensate for a lack of social abilities. Examples of this can include mimicking real or fictional people, over exaggerating non-verbal expressions, and creating scripts or rules when having a conversation with someone. [30]

Downfalls of camouflaging

Studies have shown that high levels of camouflaging is can lead to higher levels of anxiety and depression and can increase the risk of suicidal ideation. [31] [22] [32] [33] Studies have also found that camouflaging can lead to a skewed sense of self. [22] This is especially the case for people who had been masking and mimicking other people for long periods of time. [30] Another factor of masking is mental and physical exhaustion after a camouflaging session. [33] According to the participants of the Hull, et al (2017) [30] study, the longer that autistic individuals camouflage, the worse the exhaustion becomes and the longer these individuals need to rest and recharge. This study had also found that there were increased amounts of anxiety and stress revolving around camouflaging because the participants were often worried that they did not mask enough, did not mask correctly, or did not reach the desired effects of masking in that camouflaging session. Another one of the factors that increased anxiety and exhaustion while camouflaging is the fact that it "involved a constant monitoring of the situation, as if training oneself in self-monitoring, self-awareness, and monitoring others' reactions, both during and after the interaction occurred." [30]

Differences in gender and sexuality identification

Growing literature suggests a higher diversity of gender identities and sexual orientations in autistic populations as compared to neurotypical populations. [34] [35]

A study looking at the co-occurrence of ASD in patients with gender dysphoria found 7.8% of patients to be on the autism spectrum. Another study consisting of online surveys that included those who identified as non-binary and those identifying as transgender without diagnoses of gender dysphoria found the number to be as high as 24% of gender diverse people having autism, versus around 5% of the surveyed cisgender people. A possible hypothesis for the correlation may be that autistic people are less willing or able to conform to societal norms, which may explain the high number of autistic individuals who identify outside the stereotypical gender binary. As of yet, there have been no studies specifically addressing the occurrence of autism in intersex individuals.

Recent literature suggests that 11% of people who are gender dysphoric or gender incongruent are autistic. [34] Many theories exist regarding the suggested link between gender diversity and autism: Vanderlaan et al. [36] proposed that a high birth weight could be the determinant of this co-occurrence, but this idea is challenged by its association with lower fetal testosterone, contradicting other autism theories such as Baron-Cohen's Extreme Male Brain hypothesis. Social theories, such as Gallucci et al. (2005) and Tateno et al. (2008), argue that individuals with autism may experience gender diversity as a way to avoid conventional sexual relationships or as a result of peer harassment. Psychologically, early theories from Landén et al. (1997) and Williams (1996) linked transidentity in autistic individuals to restricted interests or obsessive preoccupations, though these ideas have largely been refuted. Criticisms of these theories often focus on their reliance on insufficient evidence and their failure to fully capture the complexity of both gender identity and autism. [37]

While more research is needed, current literature suggests that there is a link between autistic traits and non-heterosexuality within both neurotypical and autistic samples. This relationship is especially prevalent in autistic women. [38]

See also

Related Research Articles

<span class="mw-page-title-main">Asperger syndrome</span> Formerly recognized subtype of autism

Asperger syndrome (AS), also known as Asperger's syndrome or Asperger's, is a diagnosis used between the 1990s and the 2010s to describe a neurodevelopmental condition characterized by significant difficulties in social interaction and nonverbal communication, along with restricted, repetitive patterns of behavior and interests. Asperger syndrome has been merged with other conditions into autism spectrum disorder (ASD) and is no longer a diagnosis in the WHO's ICD-11 or the APA's DSM-5-TR. It was considered milder than other diagnoses which were merged into ASD due to relatively unimpaired spoken language and intelligence.

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. There is also more sociopolitical debate as to whether autism should be considered a disability on its own.

<span class="mw-page-title-main">Conditions comorbid to autism</span> Medical conditions more common in autistic people

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that begins in early childhood, persists throughout adulthood, and is characterized by difficulties in social communication and restricted, repetitive patterns of behavior. There are many conditions comorbid to autism spectrum disorder, such as attention deficit hyperactivity disorder, anxiety disorders, and epilepsy.

<span class="mw-page-title-main">Simon Baron-Cohen</span> British psychologist and author

Sir Simon Philip Baron-Cohen is a British clinical psychologist and professor of developmental psychopathology at the University of Cambridge. He is the director of the university's Autism Research Centre and a Fellow of Trinity College.

High-functioning autism (HFA) was historically an autism classification to describe a person who exhibited no intellectual disability but otherwise showed autistic traits, such as difficulty in social interaction and communication, as well as repetitive, restricted patterns of behavior. The term is often applied to autistic people who are fluently verbal and of at least average intelligence. However, many in medical and autistic communities have called to stop using the term, finding it simplistic and unindicative of the difficulties some autistic people face.

<span class="mw-page-title-main">Masking (personality)</span> Social process

In psychology and sociology, masking, also known as social camouflaging, is a defensive behavior in which an individual conceals their natural personality or behavior in response to social pressure, abuse, or harassment. Masking can be strongly influenced by environmental factors such as authoritarian parents, social rejection, and emotional, physical, or sexual abuse. Masking can be a behavior individuals adopt subconsciously as coping mechanisms or a trauma response, or it can be a conscious behavior an individual adopts to fit in within perceived societal norms. Masking is interconnected with maintaining performative behavior within social structures and cultures.

<span class="mw-page-title-main">Heritability of autism</span> The rate at which autism is inherited

The heritability of autism is the proportion of differences in expression of autism that can be explained by genetic variation; if the heritability of a condition is high, then the condition is considered to be primarily genetic. Autism has a strong genetic basis. Although the genetics of autism are complex, autism spectrum disorder (ASD) is explained more by multigene effects than by rare mutations with large effects.

<span class="mw-page-title-main">Autism therapies</span> Therapy aimed at autistic people

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The autism-spectrum quotient (AQ) is a questionnaire published in 2001 by Simon Baron-Cohen and his colleagues at the Autism Research Centre in Cambridge, UK. Consisting of fifty questions, it aims to investigate whether adults of average intelligence have symptoms of autism spectrum conditions. More recently, versions of the AQ for children and adolescents have also been published.

The empathising–systemising (E–S) theory is a controversial theory on the psychological basis of autism and male–female neurological differences originally put forward by English clinical psychologist Simon Baron-Cohen. It classifies individuals based on abilities in empathic thinking (E) and systematic thinking (S). It measures skills using an Empathy Quotient (EQ) and Systemising Quotient (SQ) and attempts to explain the social and communication symptoms in autism spectrum disorders as deficits and delays in empathy combined with intact or superior systemising.

Autism or autism spectrum disorder (ASD), is a neurodevelopmental disorder characterized by repetitive, restricted, and inflexible patterns of behavior, interests, and activities, as well as persistent difficulties in social communication and interaction. Autism generally affects a person's ability to understand and connect with others, as well as their adaptability to everyday situations, with its severity and support needs varying widely across the underlying spectrum. For example, some are nonverbal, while others have proficient spoken language.

Autism spectrum disorder (ASD) refers to a variety of conditions typically identified by challenges with social skills, communication, speech, and repetitive sensory-motor behaviors. The 11th International Classification of Diseases (ICD-11), released in January 2021, characterizes ASD by the associated deficits in the ability to initiate and sustain two-way social communication and restricted or repetitive behavior unusual for the individual's age or situation. Although linked with early childhood, the symptoms can appear later as well. Symptoms can be detected before the age of two and experienced practitioners can give a reliable diagnosis by that age. However, official diagnosis may not occur until much older, even well into adulthood. There is a large degree of variation in how much support a person with ASD needs in day-to-day life. This can be classified by a further diagnosis of ASD level 1, level 2, or level 3. Of these, ASD level 3 describes people requiring very substantial support and who experience more severe symptoms. ASD-related deficits in nonverbal and verbal social skills can result in impediments in personal, family, social, educational, and occupational situations. This disorder tends to have a strong correlation with genetics along with other factors. More research is identifying ways in which epigenetics is linked to autism. Epigenetics generally refers to the ways in which chromatin structure is altered to affect gene expression. Mechanisms such as cytosine regulation and post-translational modifications of histones. Of the 215 genes contributing, to some extent in ASD, 42 have been found to be involved in epigenetic modification of gene expression. Some examples of ASD signs are specific or repeated behaviors, enhanced sensitivity to materials, being upset by changes in routine, appearing to show reduced interest in others, avoiding eye contact and limitations in social situations, as well as verbal communication. When social interaction becomes more important, some whose condition might have been overlooked suffer social and other exclusion and are more likely to have coexisting mental and physical conditions. Long-term problems include difficulties in daily living such as managing schedules, hypersensitivities, initiating and sustaining relationships, and maintaining jobs.

Empathy quotient (EQ) is a psychological self-report measure of empathy developed by Simon Baron-Cohen and Sally Wheelwright at the Autism Research Centre at the University of Cambridge. EQ is based on a definition of empathy that includes cognition and affect.

Nonverbal autism, also called nonspeaking autism, is a subset of autism spectrum disorder (ASD) where the person does not learn how to speak. One study has shown that 64% of autistic children who are nonverbal at age 5 are still nonverbal 10 years later.

The Ritvo Autism & Asperger Diagnostic Scale (RAADS) is a psychological self-rating scale developed by Riva Ariella Ritvo. An abridged and translated 14 question version was then developed at the Department of Clinical Neuroscience at the Karolinska Institute, to aid in the identification of patients who may have undiagnosed ASD.

<span class="mw-page-title-main">Autistic masking</span> Suppression of autistic behaviors

Autistic masking, also referred to as camouflaging is the conscious or subconscious suppression of autistic behaviors and compensation of difficulties in social interaction by autistic people with the goal of being perceived as neurotypical. Masking is a learned coping strategy that can be successful from the perspective of autistic people, but can also lead to adverse mental health outcomes.

<span class="mw-page-title-main">Autism and LGBTQ identities</span>

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<span class="mw-page-title-main">Double empathy problem</span> Psychological theory regarding individuals on the autism spectrum

The theory of the double empathy problem is a psychological and sociological theory first coined in 2012 by Damian Milton, an autistic autism researcher. This theory proposes that many of the difficulties autistic individuals face when socializing with non-autistic individuals are due, in part, to a lack of mutual understanding between the two groups, meaning that most autistic people struggle to understand and empathize with non-autistic people, whereas most non-autistic people also struggle to understand and empathize with autistic people. This lack of understanding may stem from bidirectional differences in communication style, social-cognitive characteristics, and experiences between autistic and non-autistic individuals, but not necessarily an inherent deficiency. Recent studies have shown that most autistic individuals are able to socialize, communicate effectively, empathize well or build good rapport, and display social reciprocity with most other autistic individuals. This theory and subsequent findings challenge the commonly held belief that the social skills of autistic individuals are inherently and universally impaired across contexts, as well as the theory of "mind-blindness" proposed by prominent autism researcher Simon Baron-Cohen in the mid-1990s, which suggested that empathy and theory of mind are universally impaired in autistic individuals.

The diagnosis of autism is based on a person's reported and directly observed behavior. There are no known biomarkers for autism spectrum conditions that allow for a conclusive diagnosis.

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  33. 1 2 Lai, Meng-Chuan; Lombardo, Michael V; Ruigrok, Amber NV; Chakrabarti, Bhismadev; Auyeung, Bonnie; Szatmari, Peter; Happé, Francesca; Baron-Cohen, Simon; MRC AIMS Consortium (August 2017). "Quantifying and exploring camouflaging in men and women with autism". Autism. 21 (6): 690–702. doi:10.1177/1362361316671012. ISSN   1362-3613. PMC   5536256 . PMID   27899710.
  34. 1 2 Kallitsounaki, Aimilia; Williams, David M. (2023-08-01). "Autism Spectrum Disorder and Gender Dysphoria/Incongruence. A systematic Literature Review and Meta-Analysis". Journal of Autism and Developmental Disorders. 53 (8): 3103–3117. doi:10.1007/s10803-022-05517-y. ISSN   1573-3432. PMC   10313553 . PMID   35596023.
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