Gender Discomfort and Autism

“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 finding the one that is who you are can be a bit of work.”

Gender is how we feel about and relate to the broader culture’s experiences of femininity and masculinity. Sex, on the other hand, is a biological descriptive based on chromosomes and genitals. A person’s biological sex may not correspond with their gender identity. Gender diversity is a term used to describe the range of gender identities beyond the classic Western binary understanding. Individuals who do not identify as female or male are often labeled as transgender, an umbrella term that includes gender identities like nonbinary, gender fluid, and two-spirited (specifically related to some North American Indigenous peoples). However, in reality, the range of gender identifications is unlimited. Therefore, by limiting gender to binary terms, we fail to accommodate the true extent of human existence. 

What is Gender Discomfort?

Gender discomfort (GDC) is any unease or distress associated with an individual’s assigned gender. GDC encompasses all forms of discomfort with one’s gender. Gender Dysphoria is a medical term used to describe this experience. The DSM 5 defines Gender Dysphoria (GD) as a “marked incongruence between [an individual’s] experienced or expressed gender and the one they were assigned at birth (2013). Specifically, Gender discomfort or dysphoria describes the emotional turmoil and distress experienced due to such incongruence. 

“It was certainly gender discomfort […] but I didn’t have the language for that. So when I did read about gender dysphoria, I’d have people say to me, ‘But you’re not unhappy, you’re not at risk of suicide, you’re not hurting yourself, you’re not switched off from all things female.’ [I] loved having my babies, I loved breastfeeding, I loved being a mum. And that made it quite difficult for the people to understand […] I wasn’t miserable. I just wasn’t home. And I couldn’t figure out why I wasn’t home.”

GDC is not a mental health disorder, nor are mental health conditions inherent to experiencing GDC. However, the discomfort associated with GDC often contributes to various mental health difficulties, including depression, anxiety, eating disorders, and suicidality. Mental health conditions associated with GDC arise from the societal and cultural contexts, lack of acceptance, and discrimination that gender-diverse individuals frequently face (Dhejne et al., 2016; Cleveland Clinic, 2021; Pinto et al., 2022). Referrals for GD have increased globally in recent years, likely as a result of wider acceptance and changes in diagnostic criteria (Judge et al., 2014; Kaltiala et al., 2020; Wiepjes et al.,2018; Wattel et al., 2022). 

Emotional distress from GDC can present in many ways. Common symptoms in adults include a strong desire to be and be treated as another gender, to have the sexual anatomy of another gender, to rid oneself of their sexual anatomy, and a firm conviction that one has the typical feelings of another gender. In children, these symptoms may manifest as a strong preference for clothes of another gender, cross-gender roles in make-believe play, a disdain for and refusal to accept the physical attributes of their body (i.e., ignoring menstruation and hygiene), toys and games associated with another gender, playmates of another gender, and a strong desire for their physical sex characteristics to match their experienced gender (Boston Children’s Hospital, 2023; Frank, 2020). 

Etiology of gender identity

The causes of gender incongruence and GDC are not entirely understood. Historical explanations for GDC were strictly psychiatric due to misconceptions about the malleability of gender identity. However, contemporary research highlights the biological and spectral nature of gender as it is influenced by various factors like genetics and hormones (Korpaisarn & Safe, 2019; Ettner, 2020). Specifically, chromosomal sex (established at fertilization), gonadal sex (a direct result of the genetics), and brain sex all impact eventual gender identity. The brain, like the gonads, is sexually dimorphic, meaning that genes on the sex chromosomes (XX or XY) dictate the hormones used for brain distinction. Estrogen and androgen receptor activation variations also impact hormone distribution and uptake during brain development (Fernández et al., 2022).

Gonadal differentiation occurs within the first few weeks of pregnancy, while differentiation of the brain occurs in the second half. Due to the different timing, sexual distinctions in the gonads and brain may take different directions. The resulting asynchronization can leave a developing anatomical female with a masculinized brain and vice versa (BU Medical Center, 2015; Swaab & Garcia-Falgueras, 2009; Fernández et al., 2022). Therefore, predicting gender based on external anatomy is not entirely accurate because there is no way to assess underlying neurobiology and development explicitly.

What the research says

Literature on the intersection of autism and GDC has increased substantially in the last seven years. Early studies revealed that autistic individuals report higher rates of gender diversity than the non-autistic population (Glidden et al., 2016; Van der Miesen et al., 2016; George & Stokes, 2017). Consequently, autistic individuals also experience lower identification and fewer positive feelings about assigned gender groups which can lead to GDC. This is especially true for those assigned female at birth (Cooper et al., 2018). Research also suggests that this relationship is bidirectional, where the rate of autism in transgender individuals is between 6 – 26% compared to a 1.85% prevalence in the general population (Thrower et al., 2020; Maenner et al., 2020; Walsh et al., 2018).

Although research on the co-occurrence of autism and GDC is widely available, much less is known about the underlying mechanisms of this association. Biological, psychological, and social explanations have been published. A 2022 systematic review of current theories on this link found fifteen published hypotheses, all lacking substantial empirical support (Wattel et al.). Similarly, only two longitudinal studies on the intersection of autism and GDC have been published (Nobili et al., 2020; Russell et al., 2020). Given the plethora of evidence supporting the existence of the link between GDC and autism, future research must investigate the long-term outcomes of gender-affirming care and the lived experiences of autistic people with GDC. As the needs and experiences of trans-autistic individuals are heard, treatments and research will become more accessible to and inclusive of this population (Wattel et al., 2022; Zupanic et al., 2021).

Autistic lived experiences

Specific distresses experienced by autistic adults with GDC include social stigmas about gender- and neurodiversity, accessing gender-affirming care, and managing the intersecting needs of autism and GDC – such as the tension between a need for undergoing physical gender changes versus the need for sameness and routine (Cooper et al., 2021). Autistic trans youth report distress from overwhelming negative feelings about gender incongruence, difficulty in accessing external support (e.g., gender-affirming care), and disparities in what needs they and their caretakers focus on (Cooper et al., 2022a). Some caretakers and clinicians working with young people worry that autism may impact one’s perception of gender and therefore focus on autism treatments instead of gender-based care. However, autistic youth and adults assert that autism does not impair their understanding of gender. In fact, many individuals feel that being autistic facilitates their understanding of gender identity and self (Cooper et al., 2021; 2022b).

“Living with that combined issue is very hard to find a space where you can fit, where you feel you can talk. And this belief that as autistic people, we won’t know, we won’t understand what we are because we’re autistic. That’s a myth and it’s wrong.”

It is critical to note that autistic children and youth are at higher risk of sexual victimization than the neurotypical population. This is especially true for gender-diverse autistic individuals (Pecora et al., 2020; Gotby et al., 2018; Gibbs et al., 2022). More preventative education around sexual victimization in this population is needed across healthcare professionals, caretakers, and families.

Mental Health

As previously discussed, poor mental health and suicidality are common experiences for individuals with GDC. A comprehensive 2022 review revealed that individuals with GD exhibit elevated rates of depressive symptoms (64%), suicidality (42.9%), substance use disorders (40.2%), anxiety (25.9%), and general distress (33.8%) compared to the general population. The review also highlighted that individuals with GD encounter more social stressors and face higher levels of discrimination, contributing to worsening psychiatric conditions (Pinto et al.). A recent pediatric population-based cross-sectional study found that transgender and non-binary young people with GDC-related diagnoses are frequently admitted to hospitals for suicidality or self-harm. Non-white individuals who are publicly insured and from low-income households reported lower rates of GDC-related diagnoses  (Mitchell et al., 2022). These socioeconomic disparities mirror those found in autism care, highlighting the underlying inequalities that shape the identification and management of autism and GDC (Aylword et al., 2021; Nevison & Parker, 2020; McDonnell et al., 2019). 

“[Mental health care] is not accessible. Nobody talks about it. No one paints the signs on the door to say where to go or what to do. As autistic people, when you can’t join the dots and you don’t know what’s going on, how do you know who to talk to, how to find out how to go about talking to anybody? So families should be having these conversations with their kids.”

Autistic individuals also experience a notably higher prevalence of mental health conditions than non-autistic individuals. Moreover, research has shown that autistic LGBTQIA+ individuals experience significantly elevated rates of mental illness, physical health challenges, unmet healthcare needs, limited insurance coverage, and refusal of services by medical providers compared to cisgender autistic people (Hall et al., 2020). Given the high co-occurrence of GDC and autism, comprehensive mental health support is paramount for this population (George & Stokes, 2018). Other drivers of poor mental health and suicidality for autistic LGBTQIA+ people include gender-based victimization, bullying, violence, harassment, and rejection from family, friends, and community (Virupaksha et al., 2016; Hall et al., 2020).

Despite the daily challenges faced by the autistic transgender community, their resilience shines through. Research indicates that transgender individuals with high self-esteem, assertiveness, and perceived social support from loved ones demonstrate greater resilience to psychiatric conditions than their counterparts (Hall et al., 2020). Further, a growing body of evidence reveals that trans-autistic individuals experience significant reductions in poor mental health and suicidality when provided with gender-affirming care (Cooper et al., 2023; Dhejne et al., 2016; Virupaksha et al., 2016). These improvements can be attributed to greater comfort within one’s body and the validation and hope that accompany acceptance and treatment (Dhejne et al., 2016).

Implications for Diagnosis and Care

Diagnosing GDC in autistic individuals, formal or otherwise, should be done carefully, taking into account the signs and outcomes related to autism and GDC. Autism traits like rigid thinking, sensory sensitivities, resistance to change, and social differences may compound GDC, making the diagnosis and treatment process more difficult. However, special interests are not seen as contributing to GDC. A passion for needing to be of a different gender to the one assigned may take over one’s attention due to being monotropic (having few intense focuses). Therefore, practitioners must be educated on the intersection of these experiences (Cooper et al., 2022b). For example, autistic children diagnosed with GDC often exhibit elevated passionate interest around gender themes (Zucker et al., 2017; Vanderlaan et al., 2015). Without proper knowledge of both GDC and autism, fixations on gender identity or disdain for one’s physical appearance may be considered as special interests or sensory processing issues in autistic individuals (Paradiso et al., 2022). The intensity and persistence of attention on gender identity can vary among people and lead to different outcomes. For some, it may indeed be a temporary intense focus, while others may fully experience GDC. Given the irreversible nature of many gender-affirming treatments, distinguishing between autism and GDC is crucial (Valdés et al., 2021).

“[Sensory differences have] an impact as a female going through teenage years, getting your periods, menstruating. Well, a part of me, it was like, this is not happening to me. I refuse it. Even if the back of my school uniform is covered in blood, it’s not happening because I just couldn’t cope. What was sensory about that and what was gender? I really find it quite hard to tease out. There’s definitely an overlap, though.”

To ensure a comprehensive assessment, researchers recommend using a team of practitioners, including professionals knowledgeable in both autism and GDC (Hall et al., 2020; Mitchell et al., 2022; Pinto et al., 2022). Based on the high association between GDC and autism, researchers also recommend routine assessment of autism in individuals who seek treatment for GDC (Shumer et al., 2016). It is essential to recognize that noting either autism or GDC does not necessarily impact both conditions. In successful cases where autistic individuals seek gender-affirming care, treatment can improve mental health issues, while core autism traits generally remain unaffected over time. It is, therefore, imperative that supports focus on the lived experiences of the individual instead of the potential drivers for the co-occurrence of autism and GDC (Nobili et al., 2020). 

Several case reports indicate positive outcomes from gender-affirming care for trans-autistic people (Van der Miesen et al., 2016; Zupanic et al., 2021). Gender-affirming treatments include anything from changes in gender expression and role to hormone therapy or surgery. For autistic individuals with GDC who decide to transition, the process often takes longer than for non-autistic trans people. This is due to autistic traits associated with resistance to change, rigidity, and sensory perception. However, over time and with continual support, autistic individuals who transition experience less anxiety, depression, and suicidal tendencies and higher self-esteem and overall quality of life (Zupanic et al., 2021). Considering the elevated rates of mental health challenges and suicidality among trans-autistic individuals, it is crucial to prioritize comprehensive psychological support throughout the transition process (Virupaksha et al., 2016). This support should encompass personal, social, and physical aspects dictated by the individual’s chosen treatment strategies (Zupanic et al., 2021; Cooper et al., 2023).

“It was a huge relief [to receive a diagnosis]. I felt amazing to finally have somebody listen, finally have somebody recognize who I was.”

Given our as-yet incomplete understanding of the co-occurrence of autism and GDC, treatment and care options must be developed based on the lived experiences of autistic individuals with GDC. It is imperative that healthcare professionals possess a foundational understanding of both autism and GDC and that structural interventions are implemented to combat discrimination and expand access to gender-affirming care (Hall et al., 2020; Mitchell et al., 2022; Pinto et al., 2022). In a 2022 phenomenology study, participants agreed that gender clinics could be adapted for autistic individuals via changes to appointment structure, clinical environments, and communication techniques (Cooper et al., 2022; 2023a). These adaptations are similar to those identified for autistic adults seeking mental and physical health services (Weir et al., 2022; Brede et al., 2022; Nicolaidis et al., 2015). Recent findings underscore the benefits of providing appropriate support and treatment tailored to the unique needs of autistic individuals with GDC. They also assert the need for specific autism adaptations like increased clinician understanding and educational programs for practitioners, families, and patients on how GDC and autism may intersect (Cooper et al., 2023a; Paradiso et al., 2022; Pinto et al., 2022). 

“[Clinic adaptations] like paperwork, consent forms […] [We need to] make sure that all this information is accessible and written in plain language with visuals to support. Have somebody to sit with [individuals] and check in on their understanding. Because as autistic people, we’re often very literal and it’s hard to understand metaphors sometimes and work out what on earth they mean. And the medical language is really quite difficult. So making things accessible, making sure the clinic itself as a building, is autism friendly in the way it’s put together the colors, the notices. Making sure that people work with and train to understand autism and get what autism means, and how it differs for different people.”

Autism and the Future of Gender 

Autistic people are often single-minded, meaning they focus intensely on one or two subjects. Contrastingly, neurotypicals tend to focus less intensely on many topics. Consider neurotypical focus as a wide beam of light (e.g., a lighthouse) and autistic focus as a large torch operating on the narrow beam. With a wider view (light beam), one can create contextual understandings of broader circumstances, unlike a narrow or single-minded view which may not see the full picture in context (Murray, 2018; Lawson & ARI, 2019). Because concepts of gender are very cultural, they can be difficult for autistic people to access, and many never assume the gender roles that society would have them accept. On a fundamental level, most autistic individuals experience and understand gender differently from, and often in contrast to, the wider population (Lawson & ARI, 2019).

“I think that could mean we’re more in touch with things that pertain to us and perhaps not so attached to the outer things […] [we are not] so dictated by social norms. I hear so many autistic people say I’m not male or female. And when you break that down, they’re actually saying, this is me […] I don’t identify with either of these things. And, yeah, […] there are different genders, but they’re a person, and we have less difficulty with that.”

Like autism, gender is experienced on a spectrum and is not confined to a binary or ternary lens. Acceptance of gender- and neuro-diversity has accelerated in recent years, and current inclusion initiatives amplify voices and stories from historically marginalized groups. Autistic individuals offer an intersectional perspective of humanity, encouraging a more nuanced and inclusive view of gender. Researchers, practitioners, and communities must continue to shed prejudices and work to love and accept these individuals. Without compassion, education, and understanding from broader society, autistic individuals experiencing GDC will continue to encounter discrimination and be underserved by the healthcare system. Compoundingly, if we do not actively listen to and adjust for the lived experiences of autistic people, humanity stands to lose an opportunity for deeper understanding and self-discovery. 

“I’m very excited about the future because I can see things growing from seeds we planted 30, 40 years ago. They took root! They’re growing up and they’re bearing fruit […] Really, these are things that I couldn’t have imagined a few years back […] People are writing books. Autistic people are speaking and are being heard. Autistic people are themselves researching autism as autistic researchers, not just a token person that others take an opinion from. We’re involved in coproduction A to Z, all the way through from an idea for research to its dissemination. That’s exciting! […] The whole idea of how you do research is changing, and that gives me great hope.”

As we continue to build a society that recognizes the talents and strengths of autistic individuals, accepting gender fluidity is critical. With love, kindness, and acceptance, we can learn to understand gender the way autistic people do – as a characteristic of oneself that is not based upon outside forces trying to tell us what we are and how to act. Such understanding can only be accomplished with intentional collaboration and inclusion across research fields, clinical practices, and societal expectations. We have come a long way since the first descriptions of autism, and contemporary research is more collaborative and inclusive than ever before. As empathy and understanding continue to develop, we can reconsider what it means to be human and create a future for everyone. 

Resources and more information

• Autism and Mental Health – Free online course from Curtin University & edX
• Porn is Not the Norm (PINN) – “Supporting autistic young people and their communities to safely navigate pornography’s influence”
• Milton, Damian. (2012). On the ontological status of autism: The ‘double empathy problem’. Disability & Society – DISABIL SOC. 27. 1-5. 10.1080/09687599.2012.710008
• Strang JF, et al., (2023) The Gender Self-Report: A multidimensional gender characterization tool for gender-diverse and cisgender youth and adults. Am Psychol. 2023 Jan 30. doi: 10.1037/amp0001117. Epub ahead of print. PMID: 36716136.