What is the autism gender bias?

To correctly detail and discuss these topics, it is essential to understand that “sex” and “gender” are not interchangeable. Although they are viewed as such in basic science descriptions, the extrapolation into human studies has not been critically assessed (Hines, 2019). However, within the holistic view of autism, “gender” refers to the range of characteristics, behaviors, and social structures that define the broader culture’s experience with femininity and masculinity. “Sex” (female or male) is based on chromosomes, gonads, hormones, and genitals and is a biological descriptive which does not consider lived experiences or the influence of social and cultural structures (Mulak et al., 2022; Hines, 2019). The term “sex/gender” is used in this article to describe instances where sex and gender influence the same aspect(s) of investigation or treatment. 

Past theories on the autism gender ratio

Historically, much research has shown that males are more affected by autism than females. One of the most consistent findings in autism research has been the male-to-female prevalence ratio of 4:1 (Nordgren et al., 2018). This ratio and observed sex/gender differences have underpinned our comprehension of autism and simultaneously stumped researchers for decades. Explanations for these observations range from social reasoning to genetics. One prevalent theory explaining this observation is the Female Protective Effect (FPE), which posits that women have a higher carrying capacity for genetic information that links to autism. Therefore, “females are ‘protected’ from the combined effects of autism-linked genes, such that it takes a larger number of random genetic events for them to manifest autism traits” (Wigdor et al., 2022). FPE has been broadly tested, and results confirm and deny its credibility (Bai et al., 2020; Lewis et al., 2019). 

Outside of genetics, explanations for the autism gender bias have included the Extreme Male Brain Theory (EMBT) and camouflaging. EMBT asserted that autistic individuals process and experience the world through a dominantly “male” lens. The theory placed empathizing (female) and systemizing (male) on opposite ends of a gender spectrum and posited that, regardless of sex, autistic individuals tend to present more “male” characteristics (i.e., patterns and systemizing) instead of “female” traits (i.e., social literacy and empathy) (Baron-Cohen, 2002; Greenberg et al., 2018). The theory of camouflaging, or compensating for and/or masking autistic characteristics, similarly argued that autistic women present with less social difficulty than males. Specifically, research literature asserted that women are more adept at camouflaging than men and, therefore, more difficult to identify as autistic (Hull et al., 2020; Tubío-Fungueiriño et al., 2021). While these and other theories have been widely assessed, study methods and data collection vary across experiments making corroborated evidence rare and increasing the potential for errors in analysis (Zhang et al., 2020; Jacquemont et al., 2014). 

Read more about the history of autism in Dr. Edelson’s editorial, Past, Present, and Future of Autism Diagnosis and Screening 

Contrary to historical findings, contemporary studies calculate an autism gender/sex ratio of 3:1, and recent investigations reveal gender biases in many diagnostic tools and assessments. Compoundingly, the autism gender gap significantly reduces when data account for autistic people without intellectual disabilities or extreme behaviors and potentially undiagnosed autistic individuals (Loomes et al., 2017; Belcher et al., 2022a). In light of such findings and without proper corroboration of historical theories, autism communities, and researchers stand, yet again, on the cusp of a monumental paradigm shift – one that will alter the foundations of autism descriptions and diagnosis. Given what we know, the autism community must consider whether the gender differences observed and understood in autism result from some mechanism we have yet to theorize or are simply a product of innate and foundational gender biases.

“I think there’s a recognition, slow going, but a recognition that women and girls present a bit differently and that there are definitely some gender differences in terms of symptoms.”

Emily Cassanova, PhD, researcher, and assistant professor (Interview, 21/02/23)

Holistic understanding of the autism gender/sex bias

In tandem with major social and cultural shifts over the last decade, autism research has adopted a multi-disciplinary and holistic understanding of diagnosis and treatment. Consequently, researchers are reassessing the definitions and classifications that underpin autism literature and clinical practices. Within this expanded and more critical observation of the field, previous blind spots in how we define and assess autism have been brought to light. For example, autism is no longer understood as a pediatric condition. This paradigm shift allowed for the discovery of a “lost generation” of autistic adults who did not meet the criteria or have access to assessments and treatments in their youth. Research has further revealed that within this lost generation, self-diagnosed autistic adults are more likely to be women and female-presenting people, suggesting a skewed gender/sex ratio across generations (Lai & Baron-Cohen, 2015; McDonald, 2020). 

“The understanding that autism can present very differently to how first imagined [was a critical shift in the last decade]. Many of the early studies that built the conception of autism were based on young, white males. Understanding how women may be diagnosed later and manifest their traits differently, has opened up a whole door to other research on intersectionality and better inclusion of all autistic people within the research.”

Dr. Hannah Belcher, autistic author and researcher (Communication 03/03/23)

Contemporary assessments of historical autism descriptions and screening tools increasingly reveal fundamental gender biases. The first detailed descriptions of autism core symptoms and behaviors published by Hans Asperger (1938) and Leo Kanner (1943) used disproportionately male participant groups – Kanner described a cohort of eight (8) males and three (3) females. Nevertheless, these early descriptions of autism created the foundation upon which subsequent diagnostic classification systems and treatment strategies have evolved. Recent research reveals that the Autism Quotient (AQ), the primary diagnostic screening tool in the UK, was validated with a significantly higher number of males than females. Copoundingly, they found that the AQ does not measure identical traits in females and males and that the ADOS-2, a golden standard assessment, shows signs of significant gender bias (Belcher et al., 2022a; Belcher et al., 2022b). Such gender imbalances within initial autism descriptions and subsequent assessment tools suggest that the recorded gender ratio is due to the absence of female voices and experiences within the research literature. Thus, the 4:1 male-to-female ratio is reflected in unrepresentative baseline descriptions and biased assessment instruments. 

“From the beginning, we have not included women in the research or built our systems and conceptions of autism around their experiences… Research to date has not included equal numbers of autistic females.” 

Dr. Hannah Belcher (ARI presentation, 2022)

The endless evolution of social and scientific understandings is demonstrated well by contrasting calculations and the invalidity of previous theories and descriptions in autism literature. Historically, without a “typical” female autism presentation, clinicians have had little on which to base observations, diagnoses, or treatments for women and female-presenting people. However, novel autism understandings elicit necessary changes in assessment tools and intervention options. As we continue to realize, accept, and redress the lived experiences of autistic women (within and without the lost generation), the autistic identity will be redefined, allowing a better quality of life for more autistic individuals.

Explore related articles and webinars on our list of Resources for Autistic Adults

Real-world outcomes for autistic women

The cycle of late and missed/misdiagnosis

Due to a historically incomplete description of autism (lacking the female, trans, non-binary… perspectives) and, therefore, biased diagnostic and assessment tools,  practitioners have been predisposed to consider mental health issues in females as stand-alone conditions instead of co-occurring with autism. This often leads to misdiagnosing autism or missing an autism diagnosis in favor of a coexisting mental health issue. In fact, on average, women face a 10-year delay in receiving an autism diagnosis from the first time they present to mental health services. This is especially true for autistic women and female-presenting people who exhibit more nuanced autistic traits and do not have intellectual disabilities (Gesi et al., 2021). 

“I think one of the most difficult parts [of receiving a late diagnosis] was really realizing how much I missed, how much I’ve been oblivious to throughout my whole life…And as soon as I realized that I could do things differently, [in ways] better suited to me and how my brain works, life got so much easier… I don’t hesitate now to make little adjustments if [something]’s causing me problems.”

Chris Nicholson, autistic home-decor store manager and single mother of two (Interview, 21/02/23)

Although a late diagnosis can provide identity and relief, the long-term consequences of missed/misdiagnosis are often severe. Many undiagnosed individuals struggle with self-understanding and acceptance and thus suffer escalated mental health issues. The presentation of mental health issues, in turn, increases the likelihood that they will be misdiagnosed (Lilley et al., 2021; Zener, 2019). Recent studies on the mental health trajectories for autistic women found that potentially undiagnosed women were more likely to receive a diagnosis of borderline personality disorder (BPD) and that autistic women and female-presenting people with a diagnosis only received one after a series of mental health misdiagnoses, which was not the case for autistic men (Belcher et al., 2022b; Dell’Osso & Carpita, 2022). 

“I took apart all the so-called symptoms [of borderline personality disorder] and, just like 10 years earlier, found I could almost make everything fit… I brought it up with my psychiatrist and he laughed… and said gently “You don’t have a disordered personality. You are neurobiologically atypical. Perhaps it may be helpful to find someone who specializes in autism spectrum disorders.’”

Hannah Gadsby, autistic author, comedian and actress, (Ten Steps to Nanette, Atlantic Books, 2022)

Frequently misdiagnosed conditions often prescribe medications that can alter various aspects of one’s emotional, mental, and physical state. Common misdiagnoses include conditions with similar presentation to autism, such as BPD, ADHD, depression, anxiety, and schizophrenia. A recent study on misdiagnosis in autistic women found that 15% of patients attending a clinic for BPD met criteria for an autism diagnosis (Belcher et al., 2022b). Although they present similarly (e.g., self-harm, emotion regulation issues, impulsivity), BPD and other mental/psychiatric conditions are understood to occur more frequently in women whereas, according to historical descriptions, autism is not. 

“We see a lot of these overlapping chronic health conditions that by and large affect women more anyways…The strange thing that you see with autism versus Ehlers Danlos and other spectrum conditions is that they have slightly opposite trends when it comes to sex.”

Emily Cassanova (Interview, 21/02/23)

Trauma and victimization

Autism is often characterized by differences in how individuals interpret and act during social situations, and research literature asserts that early interventions (as young as possible) yield the most positive results for autistic individuals. However, without a diagnosis and subsequent knowledge of autism traits, autistic girls and female-presenting people frequently lack self-understanding and are therefore unaware of their social and neurobiological differences. Such gaps in comprehension leave autistic females vulnerable to abuse and manipulation, often for decades, as they walk the road to diagnosis (Zener, 2019). Research shows that autistic females are at three times the risk of coercive sexual victimization compared to their neurotypical peers and that autistic individuals have less sexual knowledge and experience more sexual victimization than neurotypical controls (Gotby et al., 2018; Brown-Lavoie et al., 2014). Another recent study identified an association between autistic traits, childhood abuse, trauma victimization, and PTSD, where individuals with elevated autistic traits are at higher risk (Roberts et al., 2015). Without the understanding and support that generally accompany a diagnosis, autistic females often experience victimization, which leads to increased mental health difficulties and thus continues the cycle of missed/misdiagnosis (Jordan et al., 2010).

Masking, burnout, and suicidality

Masking, sometimes called camouflaging, is the conscious or unconscious adjustment and suppression of natural tendencies to “fit in” with social and cultural expectations. Techniques used for masking include forcing oneself to make eye contact, imitating social movements, scripting conversations, suppressing traits, and more (Pearson & Rose. 2021; Sedgewick et al., 2021). This and other forms of identity management frequently result from stigma and prejudice avoidance, a required part of daily functioning for many autistic individuals across their lifetime (Belcher et al., 2022a; Hull et al., 2017). Consequences of masking can include exhaustion, threats to self-perception, increased mental health difficulties, self-injurious behavior, autistic burnout, and suicidality (Hull et al., 2017; Cassidy et al., 2018; Miller et al., 2021). 

“I used to sit next to a person or with a group of people for hours and be so uncomfortable, and everything was wrong, but I wouldn’t want them to know [and] I didn’t want to be difficult [or] cause a problem. So I would just sit there and just suck it up. And I realized that 90% of my life was sucking it up. And I’m like other people don’t do this! Other people will say ‘Hey, I don’t like the way I’m sitting, I’m gonna move.’ I would just sit there and be so uncomfortable. I was always afraid about being misunderstood.”

Chris Nicholson (Interview, 21/02/23)

Autistic burnout (AB) is a “highly debilitating condition” characterized by withdrawal, exhaustion, executive function problems, and increased manifestation of autistic traits. AB results from the cumulative load of stressors and barriers experienced by many autistic individuals and is significantly associated with high rates of masking and increased suicidality (Arnold et al., 2023a; Raymayker et al., 2020; Hedley et al., 2018; Kirby et al., 2019; Kõlves et al., 2021). Researchers posit that much of the pressure to mask stems from a widespread lack of autism awareness and understanding due to classical descriptions and stigmas like the “deficit narrative”(Bradley et al., 2021; Raymaker et al., 2020; Dinishak, 2016). Such narratives have historically shaped autism descriptions within research literature and the broader culture, creating a lack of acceptance and empathy from non-autistic people. Uninformed social expectations and a general lack of empathy inflate the need for autistic people to mask and subsequently increase the risk of autistic burnout and suicidality (Mantzalas et al., 2022; Pearson & Rose, 2021).

Research shows that autistic women and female-presenting people are at more than eight times the risk of suicidality compared to non-autistic women, whereas autistic men are at less than twice the risk (Kirby et al., 2019; Kõlves et al., 2021). Another study found that autistic women and female-presenting individuals (without intellectual disabilities) are at higher risk for suicidal behaviors than autistic men and male-presenting people (Hirvikoski et al., 2020). As previously discussed, masking is a significant risk factor for mental health difficulties and suicidality in autistic people (without intellectual disabilities) regardless of gender (Hull et al., 2021). However, recent studies reveal an association between the length of time spent masking and adverse mental health outcomes. Contrastingly, social acceptance and receiving a diagnosis are reasons autistic adults feel they do not need to mask (Bradley et al., 2021; Cage et al., 2017). 

You can learn more in our article on Autism and Depression and our webinar on Stress and Anxiety Reduction presented by Dr. Amy Keefer

When we consider the cycle of late and missed/diagnosis alongside the obligation of autistic masking, the rate of suicidality and poor mental health in autistic females is no surprise. Given such data, healthcare providers and clinical practitioners are investigating and adapting assessment tools and treatments to bolster support and increase quality of life for autistic women and female-presenting people (Raymaker et al., 2020; Hull et al., 2021). Contemporary studies have identified specific levels of masking associated with a higher risk of mental health problems, and treatment strategies focused on intentional masking and authenticity are being explored (Hull et al., 2021; Beck et al., 2020). However, to ensure increased support and care, shifts in societal autism understandings must occur alongside advances in diagnosis and treatment. 

“We need to minimize and move the onus of fitting in from autistic people masking toward non-autistic people learning to accept autistic people as they are. Consequences are severe if this is not the case… masking natural behaviors and traits denies expression of our true selves and identity.”

Dr. Hannah Belcher (ARI presentation, 2022)

Gender and masking

Investigations on the interaction of gender and self-reported masking relay contradicting findings. A recent study using the Camouflaging Autistic Traits Questionnaire (CAT-Q) found that autistic females self-reported higher amounts of masking than males but found no significant gender difference in scores for social compensation (Hull et al., 2020). Simultaneously, studies on the metrics and validity of camouflage assessments posit that, while the CAT-Q is a valuable baseline measurement tool, the psychometric properties of it and other masking rating scales must be improved (van der Putten et al., 2023; Hannon et al., 2023). Another study used an online survey to explore the moderating effect of gender on the relationship between self-reported camouflaging/masking and anxiety and depression. Researchers found a positive association between masking and mental health issues but no interaction between autistic masking and gender (Hull et al., 2021). 

It is critical to note that understanding masking/camouflaging as an adaptation to and consequence of late and missed/misdiagnosis is very different from the camouflaging theory described in the first section. Where the theory asserted that women are more adept at camouflaging than men, the idea of masking posits that autistic individuals across the gender spectrum trade natural responses for socially tolerated learned alternatives (Hull et al., 2020; Tubío-Fungueiriño et al., 2021). This suggests that the differences in autism presentations are a mark of the condition’s heterogeneity instead of gender-based camouflaging skills. Although we can deduce that autistic women and female-presenting individuals mask for more extended periods due to the cycle of missed/misdiagnosis, gender/sex has yet to be validly associated with the level of autistic masking. 

“[Camouflaging and masking] are the same theoretically. Camouflaging was initially used to refer to a number of strategies, one of which was masking of autistic traits. Others included compensation of autistic traits, and feeling a need to assimilate to others. Some felt the term ‘camouflaging’ held a negative bias, whilst many people may be aware of their masking of traits. It often starts as an unconscious strategy born from social trauma in childhood. Indeed, others have re-labelled this ‘adaptive morphing’.”

Hannah Belcher (Communication, 03/03/23)

Where do we go from here? 

Despite the fact that core traits and descriptions of autism do not include social characteristics, the concept of autism as a “social disorder” has proven pervasive and unyielding. Within this view, the nuanced social difficulties presented by autistic females (without intellectual disabilities) were often overlooked as they did not match the specifically male descriptors used by clinicians. However, contemporary research underscores the fact that autism is a neurodevelopmental condition. Studies reveal sex and gender disparities in various aspects of autism presentation, pathology, and maintenance, and multi-disciplinary frameworks for assessing these disparities have been created (Lai et al., 2021). Researchers therefore assert that, although masking may contribute to diagnostic disparities, gender norms and stereotypes must not be imposed by associating masking/camouflaging with the evolving and expanding definitions of autism (Raymaker et al., 2020). Understanding what sex/gender differences exist in autism trait presentation and neurodevelopment will pave the way for establishing more inclusive descriptions and differential/updated diagnostic criteria and treatments. The following section summarizes contemporary fields of autism research and their potential for taking us forward. 

Female autism phenotype

The Female Autism Phenotype theory (FAP) asserts that autistic women and female-presenting individuals possess the same core traits as autistic males but manifest them differently (Kopp & Gillberg, 1992). Although initially published in 1992, FAP has only gained traction in the last decade and has since revealed numerous gender differences in autism presentation. Studies show that autistic women and female-presenting people have better social awareness, are more likely to engage in reciprocal conversation, have more social motivation for friendships, participate in more group activities, use more nonverbal gestures and pragmatic language, have fewer repetitive/restrictive behaviors, and have more friends than autistic men and male-presenting individuals (Hsiao et al., 2013; Hiller et al., 2014; Rynkiewicz et al., 2016; Parish-Morris et al., 2017; Sedgewick et al., 2016; Dean et al., 2017; Wilson et al., 2016). 

In light of revealed gender differences in presentation and a lack of female autism descriptions, contemporary research aims to discover and describe a FAP that will better inform practitioners on diagnostic and treatment criteria for autistic women and female-presenting people. A recent study on possible descriptive traits revealed that potentially undiagnosed autistic females scored significantly higher on empathy and general social functioning measures than diagnosed females. Another study on clinically perceived gender differences in autistic presentation found that males display more apparent difficulties (e.g., hyperactivity). In contrast, autistic females are more socially motivated and, therefore present as less similar to the historical conceptualization of autism (Lundin et al., 2020). These findings suggest that some social abilities may be an aspect of autism phenotypes like the FAP, further challenging the idea that autistic individuals lack empathy and social understanding (Belcher et al., 2022). It is important to note that FAP aims only to describe autism presentations associated more with females. The FAP therefore preserves the classical binary gender lens and so simultaneously expands (beyond male descriptors) and limits (only looks at females) evolving descriptions of autism. Nevertheless, as characteristics of the FAP are verified, clinicians will have more on which to base observation, diagnosis, and treatment of autistic women and female-presenting people. Therefore, investigation into the FAP is an integral starting point in the creation of a holistic and expanded autism description. 

“I disagree with the use of the category ‘female autism phenotype’, because I think it plays into this binary idea that there’s a ‘male’ brain and a ‘female’ brain. Actually, many autistic men also mask and many autistic women demonstrated more stereotypical traits as children and were diagnosed as children. It seems to be the case though that females are more likely to present this phenotype, possibly because of cognitive differences and also gender socialization, where girls are taught to be more empathetic. What it does tell us though, is there is more than one way to present as ‘autistic’, and the stereotype of autism that has dominated the research is not the only, or possibly even most common, presentation.”

Dr. Hannah Belcher (Communication, 03/03/23)

Find out more From Dr. Hannah Belcher in our webinar about Delayed and Missed Diagnosis of Autistic Women 

Neural expression and brain organization

Modern discoveries in brain expression are beginning to characterize neurobiological drivers of sex differences in autism. One study on brain connectivity revealed differential autistic neural expression where females are characterized by patterns of hyper (enhanced)-connectivity and males by patterns of hypo(reduced)-connectivity compared to their neurotypical peers (Alaerts et al., 2016). A similar study revealed that the expression of RORA target genes (essential for neurodevelopment) differs according to sex, where males experience more significant dysregulation of genes associated with autism (Hu et al., 2015). Such findings suggest that RORA expression and brain connectivity are sexually dimorphic (different in females and males), thus invalidating the Extreme Male Brain Theory (Alaerts et al., 2016; Hu et al., 2015).

“… sex hormones work on a gradient, [and] the brain has many secondary sex characteristics. So [the brain] is much more fluid than the primary sex organs. That’s why you do see a lot of variability in terms of gender, as opposed to sex.”

Emily Cassanova, PhD  (Interview, 02/21/23)

Sex-based differences are also found in the structural and functional brain organization of autistic people. For example, one study revealed that structural brain organization in autistic females is significantly different from that of autistic males, especially in brain regions of the motor, language, and visual-motor systems. Correlated clinical scores showed a relationship between restrictive repetitive behavior (RRB) domains and gray matter volume in autistic females, but not males. These sex discrepancies in structural brain organization are associated with significantly different autistic phenotypes (Supekar & Menon, 2015). Further assessment of sex-based functional organization differences found disparities in brain regions associated with visual-spatial attention. Clinical correlation of differential brain regions revealed that motor systems regions predicted the severity of RRB in autistic females but not males. These findings suggest the presence of domain-specific effects associated with RRB in females and some level of FPE (female protective effect) in those brain regions. Notably, the sex differences observed in autistic structural and functional brain organization significantly differ from normative sex differences. Such disparity underscores the need for sex-based research and treatments specific to autistic individuals (Supekar et al., 2022). Researchers now assert that sex-based disparities in brain expression and organization distinctly contribute to autistic clinical symptoms. As the sources and functions of these differences are further investigated, sex-specific autism diagnostic and treatment tools will evolve accordingly (Supekar & Menon, 2015; Supekar et al., 2022; Hu et al., 2015). 

The studies on structural and functional brain organization discussed above are detailed by Kaustubh Supekar, PhD in a webinar on Behavioral and Brain Signatures of Autism in Females

Gut microbiome – brain axis (GBA)

Trillions of microbial cells (microbiota) make up the gut microbiome (GM) which contains more than 100 times the genetic material of each person’s human genome. Known contributors to GM composition include diet, ethnicity, antibiotics, stress, maternal health during pregnancy, exercise, and psychological and environmental factors (Kim, 2022). The core of the GM resides in the GI tract and plays an integral role in physical and mental health. GI difficulties such as constipation, diarrhea, and abdominal pain commonly co-occur with autism, and many therapies target the GM via dietary and environmental adjustments like Microbiota Transfer Therapy (MTT) (Quigley & Hurley, 2000; Li et al., 2017; Yang et al., 2018; Kang et al., 2017; Nirmalkar et al., 2022). Over the last decade, perceptions of the GM’s capacity and nature have shifted dramatically, unlocking new and exciting avenues of autism understanding and treatment. Specifically, a bidirectional communication pathway called the gut microbiome-brain axis (GBA) has emerged as an influencing factor on metabolism, immunity, behavior, and neurodevelopment. The GBA is established shortly after birth and integrates information from the nervous, endocrine, and immune systems within the communication pathway (Jašarević et al., 2016; Li & Zhou, 2016). 

Listen to Dr. Rosa Krajmalnik-Brown discuss exciting treatments in her presentation on Microbiota Transfer Therapy (MTT) in autism 

You can also learn about gut health and maintenance in our article on Nutrition and the Gut-Brain Connection

Sex/gender dimorphic GM & GBA

Contemporary studies reveal that the metabolism and circulation of sex hormones (estrogen and androgen) are associated with the GM. The functional capacity and composition of the GM also undergo transitions that mirror periods of dynamic brain development distinctly differentiated by sex  (Yoon & Kim, 2021; Jašarević et al., 2016). Further, a study on maternal stress during pregnancy found that stress-induced decreases in vaginal immunity negatively impact the GMs of male children but not females (Kim, 2022). Such findings suggest that GBA maintenance and neurodevelopment are sexually dimorphic and are significantly impacted by changes to the GM. As autism is a neurodevelopmental condition, these findings indicate that sex-based disparities in the structure and function of the GBA partly explain presentation and genetic differences in autistic females and males (Jašarević et al., 2016; Shobeiri et al., 2022).

“Hormone response elements are little segments in the DNA that have the potential to alter gene expression of relevant genes. These guys have presumably been a major source of influence on sexual dimorphism in the primate lineage (human evolution)…Feasibly, these have also been really involved in how the primate lineage has adapted over time, and the kind of sexual dimorphism that you end up seeing throughout the lineage.” 

Emily Cassanova, PhD (Interview, 02/21/23)

Terminology for this concept remains debated (Microgenderome vs. Microsexome) as both sex and gender undeniably impact the microbiome via biological cycles and socially constructed gender norms. Researchers assert the need for a thorough investigation of gender role impacts on the GBA via diet, physical activity, and antimicrobial exposure (Mulak et al., 2022; Mo et al., 2021). As understanding of sex/gender disparities in GBA functionality increases, autism treatment strategies will have the potential to improve and fine-tune MTT, GBA, and other therapy techniques based on sex/gender-specific GM characteristics (Kim, 2022; Shobeiri et al., 2022; Kang et al., 2019).

Learn more about the GM and GBA in our webinar on The Role of Neurotransmitters in GI Disorders Related to Autism presented by Kara Margolis, MD.

Beyond the binary

In the past, theories like Extreme Male Brain Theory (EMBT) and Camouflaging exaggerated the idea of a “male” presentation of autism. Against the backdrop of a strictly binary and gender-defined society, such paradigms resonated with cultural norms and traditions. However, contemporary research shows that autistic lived experiences stand in stark contrast to the classical binary understanding of gender. A meta-synthesis exploring the intersection of autism and gender found themes related to: how the autism discourse (i.e., EMBT and masking) restricts gender identities, how gendered autistic identities are positioned within social hierarchies (i.e., as “othered” less acceptable ways of being), and the possibilities of finding spaces for belonging and advocacy (Moore et al., 2022). Autistic females also present with greater gender and sexuality diversity compared to non-autistic females, and many report conflicts between autism and the traditional feminine identity (Bargiela et al., 2016; Pecora et al., 2020). Even further, autistic women and men sometimes display the “typical” brain of the other gender (Sedgewick et al., 2021). Research findings therefore demonstrate that, while autism identity may offer liberation from normative expectations, autism discourse often restricts gender and has, until recently, reinforced classical hierarchies. Modern researchers therefore assert that gender, both statistically and anecdotally, is far more fluid within the autistic population (Moore et al., 2022; Sedgewick et al., 2021; Hall et al., 2020). 

For resources and more information, please visit our LGBTQ+ and Autism Resource Page

Studies on the relationship between culturally defined gender roles and the physical and mental health of autistic individuals are largely lacking in the research literature (Mo et al., 2021). Research into the biological and neurodevelopmental aspects of autism deals exclusively with sex (female and male) and does not consider social and environmental implications associated with gender. Biological findings are therefore limited in their scope and cannot be used to characterize autistic lived experiences or gender-based cultural phenomena. The lack of literature on autistic gender experiences likely results from past attempts to describe the more fluid autistic gender experience using a binary (specifically male) lens and vocabulary. Therefore, contemporary researchers urge practitioners to “reflect on the clinical, ethical and political implications of their positioning concerning the constructs of “autism” and “gender” and to step beyond the “male lens” that previously captivated the field (Moore et al., 2022; Mo et al., 2021). Coupled with recent discoveries and ongoing research, such a shift in perspective could springboard the synthesis of an autism discourse capable of describing and assisting a significantly larger portion of the autistic population. 

Discover more about the intersection of sex, gender, and autism in Dr. Wenn Lawson’s presentation on Gender Dysphoria and Autism

New models for a new future

Autism was once understood as a pediatric condition that only affected boys, but we have come a long way since those first descriptions by Kanner and Asperger. We now understand that autism is a lifelong neurodevelopmental condition with heterogeneous (diverse) presentation across all genders. Advancements in understanding and practice allow wider access to autism diagnosis and treatments and therefore continually expand autism descriptions and identities. This integral relationship between “hard” (mathematical) and “soft” (social) science has proven a difficult gap to close for most of autism research history. However, appeals for more holistic and multidisciplinary approaches to investigation and treatment are finally being answered. In alignment with ongoing paradigm shifts in autism understandings, contemporary investigations study models of disability and how they impact policy and practice. The recently proposed Biological Gradient Model (BGM) “integrates scientific theory while avoiding pathology-based concepts and value-laden judgments concerning ‘deficiency’” (Cassanova & Windman, 2021). This model asserts that many phenotypes (presentations) normally pathologized or categorized within the Medical Model need to be considered more as gradients. The BGM is a “hodgepodge” of the best parts of the medical and neurodivergent models. It provides a framework for further examination of the intersection of sex and gender within autism and other neurodevelopmental conditions. 

“… it’s just this idea of kind of getting down to the biology of how to describe something, how to describe exactly how this phenotype is coming about. But also with the recognition that a lot of the processes we see functioning within the body are not usually an on-off switch. They tend to be a little bit more of a gradient, or at the very least… may have a threshold effect at some point. But it really does fulfill more of a gradient concept than [whether something] is pathological versus not pathological.”

Emily Cassanova, PhD (Interview, 02/21/23)

The BGM and other contemporary models and theories work to determine and assess the biological and cultural roots of autism neurodevelopment and presentation. Such multidisciplinary frameworks allow increasingly specific assessment of underlying autism concepts, descriptions, and practices. As research literature continues to recognize and record the lived experiences of autistic females in tandem with biological investigation, we will more clearly comprehend the reasons for and ramifications of the sex/gender differences recorded in autism. However, new findings and discoveries will only translate to advances in diagnosis and treatment if such information is continuously and rigorously disseminated to clinicians. Should practitioners remain underinformed about novel phenotypes and biological findings, autistic women and female-presenting people will continue to be underserved and underdiagnosed (Lundin et al., 2020; Navarro-Pardo et al., 2021; Estrin et al., 2020). Information sharing and collaboration are fundamental to successful advances in autism research and treatment.

“It excites me to see more understanding of the cultural and social differences between autistic people and how this can influence how traits manifest. I’m seeing more research on adapting mental health services for all autistic people, which is great because we have such a heightened risk. I’m also excited to see so many autistic voices being included in the research and in some instances leading the research. The neurodiversity movement has re-adjusted the power balance, so instead of research being done on autistic people, we are now looking at actually what autistic people want to be researched. What really matters to them, and it seems that better care and support is key.”

Dr. Hannah Belcher (Communication, 03/03/23)

Future baseline descriptions of autism presentation and neurodevelopment will significantly differ from today’s. Much like the past, present advances in biological and social comprehensions of autism fuel one another and continue to lay the path forward. Contemporary findings assert that questions about sex/gender disparities in autism are critical building blocks for the future. As these questions are investigated and we carry on weaving theoretical and practical understandings together, gaps in autism diagnosis and treatment will continue to close. Within this holistic and inclusive view of autism, the legacy of ARI’s founder, Dr. Bernard Rimland, is kept alive – A well-coordinated effort by all stakeholders in the autism community (autistic individuals, parents, clinicians, researchers, therapists, and families) is as important today as it was 20 years ago. Historical advances in autism research suggest a future bursting with potential not only for autistic females, but also for autistic people of color, low-income families, and adults and seniors. It is clear that as diagnostic and screening efforts improve alongside societal understanding and empathy, a significantly greater portion of autistic individuals will be supported in realizing their full potential.

“I’m just really excited for the future for children, for my children… I’m really happy for them; that they’re coming up during this time and they’re not going to have a lot of the same struggles that I’ve had.”

Chris Nicholson (Interview, 21/02/23)

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Gender Discomfort and Autism

June 16th, 2023|News|

"I think society has an expectation where you have to be male or female, or you can be somewhere in between [...]. But they don't get that, actually, there are many genders and