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In several ways, 2018 represents a global pivot point in research and care related to the intersection of gender diversity and autism, reflected by the increase in the number of studies on the intersection and broadening of topics. We conducted a scoping review of the literature published between September 2018 and January 2024 to summarize recent research in the field. We compared and contrasted research trends post September 2018 to research that was summarized in previous scoping reviews (Nordahl-Hansen et al. in J Autism Develop Disord 49:1745–1748, 2019; Øien et al. J Autism Develop Disord 48(12):4028–4037, 2018. https://doi.org/10.1007/s10803-018-3843-z). We also summarized systematic reviews and meta-analyses published after 2018. Compared to previous reviews, we included more comprehensive search terms to focus on gender diversity broadly, rather than just gender dysphoria or gender identity disorder, and we included more detailed coding categories to uniquely identify shifts and continuities in research priorities over time. A total of 99 empirical research studies were published after August 2018 (the end of the search in the previous review) and through January 2024 on autism, gender diversity, and related topics were reviewed. There has been growth in the quantity and quality of studies on the intersection of autism and gender diversity, although methodological improvements are still needed and described in the current review. Future research should include more collaborations with stakeholders to set research priorities that are reflective of the communities being described.
John F. Strang and Anders Nordahl-Hansen have contributed equally to the leadership of this work.
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Foreword
“Gender diverse” has emerged as an umbrella term for describing gender identities, expressions, or experiences that differ from the stereotypes and cultural norms associated with one’s designated gender1 at birth (The World Professional Association for Transgender Health, (WPATH) 2022). Gender dysphoria is the psychological distress related to a discordance between gender identity and assigned gender at birth (APA, 2013). Gender Incongruence is the experience of incongruence between gender identity and the assigned gender at birth. Gender Dypshoria and Gender Incongruence as clinical designations are often inappropriately conflated with gender diversity. Gender Dysphoria and Incongruence are employed in clinical practice to facilitate access to needed gender affirming supports (e.g., psychosocial and/or medical) in order to address/reduce dysphoria or incongruence (ICD-11 Beta Draft; World Health Organization, 2021). Researchers reporting on the intersection of autism and gender diversity have not consistently employed or recognized the full implications of gender-related language and affirming terms, likely because some come from training and experiential backgrounds that are distant from the field of gender development. Thus, while we acknowledge that gender diversity, transgender identity, gender dysphoria, and gender incongruence are not the same, we provide a glossary of related terms and acknowledge and include research on gender dysphoria and incongruence to ensure the full breadth of related research is acknowledged. We, however, have selected the term “gender diversity”, in accordance with the naming standards for the new revision of the Standards of Care through the WPATH (The WPATH, 2022), as inclusive of the broad range of experiences related to gender-diverse identities and expressions in order to support nomenclature for the field moving forward.
Introduction
Gender diversity is estimated to be present for between 1.2 and 2.7% of the general population (Zhang et al., 2020). While rates of gender diversity appear to have increased, it has been argued that increasing societal awareness has allowed a greater number of individuals to reflect on and report their gender diversity (Arnoldussen et al., 2020). The increasing research attention to gender diversity has also highlighted the proportional over-representations of gender diversity in autistic populations and autism in gender diverse populations (Kallitsounaki & Williams, 2022a, 2022b; Warrier et al., 2020).2
Oral histories from providers serving gender diverse youth indicated that the common intersection of gender diversity and autism was discussed clinically since at least the earliest years of the twenty-first century (J. Strang, L. Edwards-Leeper, A. de Vries, personal communication, 2023a). Starting in the second decade of this century, there has been a rapid proliferation of research documenting the link between gender diversity and autism, led first by a hallmark 2010 study by de Vries and colleagues, which reported a proportional over-representation of autism among gender diverse children and adolescents. Notably, this study was conducted in The Netherlands, a country known for its socio-culturally progressive inclusion of gender diverse individuals, as well as its pioneering model of gender care (Bussemaker, 1998; Ramos, 2008).
Since this first study, diagnoses of autism have been found to occur in 1.2–68% of individuals identified as transgender or as being gender diverse (review in Kallitsounaki & Wiliams, ). In other words, rates of autism diagnoses may be 3.03–10 times more common in gender-diverse samples compared to the general population (de Vries et al., 2010; Warrier et al., 2020). A recent meta-analysis reported that, across studies, 11% of individuals with gender dysphoria/incongruence were autistic (Kallitsounaki & Williams, 2022a, 2022b), albeit with very wide prediction intervals of prevalence estimates due to differences in assessments, cut-offs on assessments, heterogeneity in presentation, and other unidentified factors that still need to be explored.
Gender diversity and incongruence have been found to occur at higher rates in autistic people (adolescents through adults) compared to the general population (Van der Miesen et al., 2018a, 2018b), with some reporting 13–15% of autistic individuals identified as transgender, gender diverse and/or as experiencing gender dysphoria (Bretherton et al., 2021; Walsh et al., 2018) These studies generally reported on samples of autistic individuals without intellectual disability (ID). No information is available on whether the proportional over-representation is present for those with ID. In addition to the proportional overlap, the intersection of neurodivergence and gender diversity appeared to drive a range of clinical needs, some unique to the intersection (Strang et al., 2018a, 2018b, 2018c, 2018d); for example, a subset of autistic transgender youth reported barriers accessing gender care due to assumptions by family members and/or clinicians that their gender may be inauthentic and the result of autism-related neurodivergence.
In light of research identifying links between gender diversity and autism, and, given the clinical characteristics of this intersectional experience, a scoping review of studies on autism and gender dysphoria was conducted in 2018. The review identified 47 studies published between 1946 and April 2018 (Øien et al., 2018); corrections published in October 2018 reported 6 additional studies that were published between April 2018 and August 2018 (Nordahl-Hansen et al., 2019).
The publication year of the previous review, 2018, represents in several ways a global pivot point in research and care related to the common intersection of gender diversity and autism. For example, in 2018, the Autism Women’s Network (AWN) first recognized the common gender diversity and autism intersection in its constituency, and officially changed its name to the Autistic Women & Nonbinary Network (Network AWN, 2023). This shift reflects broader trends in the late 2010’s, in which the autistic community and autism-related providers began publicly acknowledging the common autism/gender diversity overlap (Autistic Self Advocacy Network, 2016; Strang et al., 2018a, 2018b, 2018c, 2018d). 2018 also heralded major developments within the World Professional Association for Transgender Health (WPATH), the international body which determines the standard of care for transgender people globally. The WPATH Global Education Institute (GEI) first included specific training on the common intersection of autism and gender diversity at the 2018 conference in Buenos Aires, Argentina (WPATH, 2018). Since that time, WPATH has continued to expand its international training through GEI, with modules specifically dedicated to the intersection of gender diversity and autism embedded in two of its primary training tracks. WPATH has also launched a neurodiversity-specific workshop (WPATH, 2022).
Since 2018 there have also been sociopolitical shifts in the United States and parts of Europe accompanied by numerous political and legislative actions affecting transgender individuals’ participation in society and access to care (Jackson et al., 2019; Savage, 2020; Swedish National Board, 2022; The Guardian, 2021). Some of this legislation is specifically tied to the autism and gender diversity intersection. This legislation includes legal actions restricting autistic transgender people from accessing care (AR Act 274, 2023), as well as laws that ban care for all transgender youth, justified in part by the over-representation of autism in transgender people (GA SB140, 2023).
Not surprisingly, given these striking shifts since 2018, the number of studies and topics covered has grown rapidly, as have gender-related clinical referrals (Expósito-Campos, et al., 2023; Jones et al., 2022). Included among the more recent publications are several systematic reviews or meta-analyses on specific topics related to the intersection of autism and gender diversity that were published during or after 2018. This current review, in contrast, provides a scoping review of the published literature. Compared to the other reviews, we utilized the most comprehensive search terms. Instead of focusing on gender dysphoria or gender identity disorder, as many reviews have done, we focused on gender diversity more broadly as many individuals who identify as gender diverse do not experience dysphoria. Further, our search terms related to neurodivergence were more inclusive than previously published reviews. Unlike other published reviews, we did not restrict our search to studies published in English. This review is also distinctive in its codification of identity characteristics within each study included in the review. Specifically, we captured the proportional representation of genders, assigned gender at birth, gender diversity status (i.e., gender diverse v. cisgender), and autism status (i.e., autistic v. not autistic) across the studies. Our broad search and detailed coding uniquely identify shifts and continuinities in research priorities over time.
This current review is also an update to previous scoping reviews that were published in 2018 (Nordahl-Hansen et al., 2019; Øien et al., 2018). As part of this current review, we were able to compare and contrast research trends prior to and post mid 2018, by comparing codings between the current review (which picks up immediately following the time point of the original 2018 reviews) and the previous reviews. As noted earlier, 2018 represents in several ways a pivot point for autistic transgender people in terms of broader community awareness and acceptance, as well as the beginning of trends towards greater restrictions for these individuals. A primary focus of this review was to employ relatively current, more inclusive language and conceptualizations regarding gender diversity and autism.
Methods
Literature Search
The literature search for this update was completed on February, 26, 2024 by one of the last authors. There were no date restrictions set for the search, given the updated search terms from the last review. However, only articles published after August 2018 were included in the main results below (described in more detail in Supplementary Materials Table S1), to eliminate overlap in findings between the current review and the previous ones. Studies published prior to August 2018 that were not identified in the previous reviews with the previous search terms (Øien et al., 2018; Nordahl-Hansen et al., 2019) are included in supplementary materials Table S2.
The same databases as for the initial review were used: EMBASE, MEDLINE, PubMed, PsycINFO and ERIC. The search string for databases including Boolean operators used for the current review were: Transsex* OR transgender* OR gender dysphori*OR gender identity disorder* OR gender identit* OR sexual identit* OR gender diver* OR nonbinary OR non-binary OR gender vari* OR gender nonconform* OR gender non-conform* OR sex reassign* OR transma* OR transfem* OR gender var* OR gender incongruen*AND Pervasive development* disorder* OR pdd OR pdd-nos OR pervasive developmental disorder not otherwise specified OR autis* OR Autism Spectrum Disorder* OR Asperger* OR ASD OR neurodiver* OR autism spectrum* OR autis* trait* OR autism spectrum condition*. To indicate the broader scope of the current and updated review we have added italics to the search-terms that are were not present in the 2018-review. Again, we recognize many of these terms are outdated, but had inclusive language in order to capture all studies on the topic. The following search-terms, with asterisks to include variations of wording, were added that expand beyond the 2018-review: “neurodiversity”, “gender diversity”, “nonbinary,” “gender variance,” “gender nonconformity,” “sex reassignment,” “transmasculine,” “transfeminie,” and “gender incongruence.”. This was done to more completely reflect gender diversity and its terminology. References for recent reviews were also searched. The review was conducted in accordance with guidelines for scoping reviews provided by PRISMA (Tricco et al., 2018) and Peters et al. (2020).
Inclusion and Exclusion Criteria
Included in the search was any publication that presented empirical research on any number of participants, related to autism and gender diversity, as indicated in the title and/or abstract. We included only studies that were published in scientific peer reviewed journals. Systematic reviews and meta-analyses were not included in the primary results but are presented as they are important contributions to the field. Reviews that were not systematic (e.g., commentaries/letters to the editor, book chapters, and conference abstracts) were excluded after the title and abstract screening. No language restrictions were set according to Cochrane guidelines (Higgins et al., 2019). Studies were included in the results section if they were published after August 2018 (i.e., the end date for the search in the previous review) and not included in the previous review. Studies that were published during or prior to August 2018 with the additional search terms are included in supplementary materials for this study but are not included in the results or conclusions of the main manuscript as the goal of the study was to review recent research. We coded the same categories from the original review: age, country of origin, and research team country of origin. The current review also added the following coding categories: gender identity of participants, exclusion criteria, number of participants who had transitioned or were transitioning, autism measure used, and gender measure used.
Screening, Study Selection, and Review Protocol
Articles were screened in two stages. The first and last author screened the title and abstracts of the publications. In nine instances uncertainty was discussed and seven of these studies were included. The first author inspected and coded the full-texts using the criteria that are presented in Supplementary Materials Table S1. Questions were resolved through discussions and double-coding (done by the first and last author). See the full PRISMA flow diagram in Fig. 1. For coding categories that were consistent between the previous reviews and the current one, studies published prior to August 2018 that were ascertained in Øien et al., (2018) and Nordahl-Hansen et al. (2019) were compared to articles ascertained for the current review (i.e., published August 2018 and through January 2024) using Fisher’s exact test due to small cell sizes.
Fig. 1
PRISMA 2020 flow diagram for updated systematic reviews which included searches of databases and registers only
×
Results
After removing duplicates, the search produced 756 results. All titles and abstracts were screened, and 6 sysematic reviews/meta-analsyes as well as 99 articles that were published after August 2018 and through January 2024 met inclusion criteria. An additional 21 articles were identified that were published during or before August 2018 with the new search criteria. Thus, the main analyses and results are based on 6 systematic reviews described in Table 1, 99 articles described in Table 2, and 12 articles presented in Supplementary Materials Table S2.
Table 1
Systematic reviews between 2018 and 2024
Review
Topic
Focused on the intersection of autism and gender diversity?
Search terms
Types of studies included
Number of overlapping articles with the current review
Review needs for care for autistic women, existing psychosocial treatments for autistic women, and strengths and limitations of the current body of research
No
“sexu* “ OR “romantic relationship” OR “intimate relationship” OR “parent*” OR “reproductive health” OR “mother*” OR “pregn*” AND “women” OR “gender diverse” OR “transgender” OR “non-binary” AND “autism” NOT “valproate” NOT “22q11”
Quantitative, qualitative, or mixed-methods studies about autistic women’s outcomes and report on romantic relationships or parenting
Estimate the prevalence of co-occurring mental health diagnoses in autistic individuals
No
“autis*”, “mental health”, “psychiatr*”, “comorbid*”, “co-occurring”, and “disorder” (see supplementary materials of original article for full search terms)
Quantitative studies on prevalence of co-occurring conditions in autistic individuals
Analyze methodologies used by quantitative studies to evaluate autism and gender diversity in children and adolescents
Yes
gender (identity OR identity disorder OR diverse OR dysphoria OR variance OR incongruence), AND autism spectrum (autism spectrum condition* OR ASC OR autism spectrum disorder* OR ASD OR Asperger syndrome OR pervasive developmental disorder not otherwise specified OR PDD-NOS OR childhood disintegrative disorder), AND age (child* OR adolescent OR young person OR teenager)
Quantitative studies on children/adolescents with a focus on reviewing methodologies
Thematic metasynthesis regarding the intersection of autism and gender in qualitative research
Yes
autis* OR asperger* OR neurodivers* OR ASD OR ASC OR aspie AND Male OR female OR man OR woman OR men OR women OR boy* OR girl* OR *gender OR gender* OR feminin* OR masculin* OR transgender OR “trans sexual” OR transmasculine OR transfeminine OR “non binary” OR nonbinary OR *queer OR queer* OR intersect* OR feminist AND identit* OR meaning* OR experience* OR narrative* OR discourse* OR account* OR explor*
Qualitative studies focused on identity formation, including on how autism and gender identity impact identity formation
Investigate rates of psychiatric comorbidities in autistic populations
No
(((("autism spectrum disorder" OR "autistic traits" OR autism OR "autistic disorder") AND (child OR pediatric OR adolescen*)) AND (epidemiolog* OR "population study")) AND (ADHD OR ''attention deficit hyperactivity disorder'' OR ''anxiety disorder'' OR depressi* OR schizo* OR ''bipolar and related disorder'' OR bipolar OR ''obsessive–compulsive and related disorder'' OR OCD OR disruptive OR impulse-control OR conduct OR sleep–wake OR ''sleep disorder'' OR ''trauma and stressor-related disorder'' OR PTSD OR ''substance-related and addictive disorder'' OR ''substance use'' OR ''gender dysphoria'' OR ''disruptive mood dysregulation syndrome'' OR DMDD OR food OR eating OR ''social phobia'' OR ''social anxiety'' OR ''oppositional defiant disorder'' OR ODD OR ''intellectual disability'' OR ''mood disorder'' OR ''feeding and eating disorder'' OR ''feeding disorder'' OR ''eating disorder'' OR ''trauma and stress related disorder'' OR ''communication disorders'' OR ''tic disorders'' OR tourette OR ''elimination disorders'' OR ''nonorganic enuresis'' OR ''non organic enuresis'' OR ''non organic encopresis'' OR ''nonorganic encopresis'' OR enuresis OR encopresis OR ''manic disorder'' OR ''Panic disorder'' OR ''panic attack'' OR ''acute stress reaction'' OR ''conversion disorder'' OR ''somatoform disorder'' OR ''somatization disorder'' OR insomni* OR hypersomni* OR sleepwalk OR ''sleep walk'' OR somnambulism OR ''sleep terror'' OR ''night terror'' OR nightmare OR ''impuls* disorder'' OR trichotilloman* OR ''gender ident* disorder'' OR ''speech disorder'' OR ''language disorder'' OR ''reading disorder'' OR ''spelling disorder'' OR ''arithmetic disorder'' OR scholastic OR ''hyperkinetic disorder'' OR mutism OR pica OR stutter* OR ''global developmental delay'' OR cataton* OR ''body dysmorphi* Disorder'' OR ''hoarding disorder'' OR ''hair pulling disorder'' OR excoriation OR ''skin picking disorder'' OR ''functional neurological symptom disorder'' OR ''rumination disorder'' OR ''food intak* disorder'' OR ''hypersomnolence disorder'' OR narcolep* OR parasomn* OR ''Restless Legs Syndrome'' OR ''intermittent* explosive disorder'' OR suicid* OR psychosis OR psychotic OR agoraphobia OR phobia OR ''anorex* nervos* '' OR bulimia OR bulimic OR ''binge eating disorder'')) AND (("2015/05/01"[Date-Publication]: "2020/05/31"[Date-Publication]))
Quantitative and qualitative research on psychiatric comorbidities in autistic children and adolescents
Review the literature on mental health conditions for transgender individuals
No
“gender dysphoria” OR “transgender persons,” AND “mental disorders.” Thereafter, the original search was expanded by substituting “mental disorders” with the following terms: “personality disorders,” “suicide,” “anxiety,” “depression,” “autism,” and “eating disorders.”
Quantitative or qualitative research on mental conditions among transgender adults
Theories on the link between autism and "trans gender modality"
Yes
ASC terms (autism, autism spectrum disorder, autis*, and asperger*) and TGM terms (gender dysphoria, gender identity disorder, transgender*, and transsex*). Search terms were combined using Boolean operators “AND” and “OR.”
Quantitative and qualitative studies focused on theories about why autism and gender diversity overlap
Calculate the prevalence of suicidality in autistic individuals without intellectual disability and review the quality of the research
No
(ASC or ASD or Asperg* or Autis* or ‘high#functioning’ or ‘pervasive developmental disorder’ or PDD or HFA) AND (’possib* autis*’ or ‘autis* trait*’ or ‘autis* phenotyp*’ or ‘undiagnosed autis*’ or ‘self-diagnos* autis*’) AND (suicid* or ‘suicide plans’ or ‘suicide attempts’ or ‘attempted suicide’ or parasuicide ‘self-harm’ or ‘self-inj*’)
Quantitative studies with prevalence estimates of suicidality among autistic individuals without intellectual disability
Describe research on wait list interventions (i.e., intervention used to support youth and families while the youth waited for mental health assessments and/or interventions)
No
(“wait*”, wait* adj5 initiative, wait* intervention, wait* adj time, Wait* adj5 length, Wait* adj5 duration, Access adj5 delay, Wait* adj5 access) AND (psych*, behav*, CAMHS, Child*, “mental health” or depress*)
Quantitative or qualitative research on youth in interventions while on waitlists for obtaining mental health care
Investigate associations between psychiatric comorbidities with anxiety in individuals with ADHD, autism, or ADHD + Autism
No
Not Reported- “key terms such as “Anxiety,” “ADHD,” and “ASD”
Quantitative and qualitative research on psychiatric comorbidities for those with ADHD, autism, or both
0
8
Current review
Systematic review of all articles related to the intersection of gender diversity and autism
Yes
Transsex* OR transgender* OR gender dysphori*OR gender identity disorder* OR gender identit* OR sexual identit* OR gender diver* OR nonbinary OR non-binary OR gender vari* OR gender nonconform* OR gender non-conform* OR sex reassign* OR transma* OR transfem* OR gender var* OR gender incongruen*AND Pervasive development* disorder* OR pdd OR pdd-nos OR pervasive developmental disorder not otherwise specified OR autis* OR Autism Spectrum Disorder* OR Asperger* OR ASD OR neurodiver* OR autism spectrum* OR autis* trait* OR autism spectrum condition*
Quantitative and qualitative studies on gender diversity and autism
Investigate the impact of gender-affirming hormone therapy on depression and anxiety among transgender individuals and to examine the impact of demographic and psychological factors (e.g., autistic) on changes in anxiety and depression
Total N = 178 (ASD = NR; GD = 178)
Total Male = 95 (ASD = NR; GD = 95), Total Female = 83 (ASD = NR; GD = 83)
Look at psychological well-being and complaints, self-esteem, social responsiveness, and gender diversity feelings before and after a group intervention for autistic, gender diverse individuals
Total N = 41 (ASD = 41; GD = 41)
Total Male = 23 (ASD = 23; GD = 23), Total Female = 18 (ASD = 18; GD = 18)
Compare sexual desire, behaviors, awareness, and satisfaction among autistic and non-autistic females, and to examine correlations among these measures of sexuality
Total N = 427 (ASD = 248; GD = 130)
Total Female = 427 (ASD = 248; GD = 163)
Total Female = 286 (ASD = 142; GD = 0), Total Agender = 53 (ASD = 42; GD = 53), Total Genderqueer or Non-binary = 50 (ASD = 37; GD = 50), Total Not Entirely Feminine = 23 (ASD = 17; GD = 23), Total Genderfluid = 15 (ASD = 10; GD = 15)
Analyze rates of self-harm ideation by self and peer report, bullying, depression, and support in school-aged youth who identify as trans, other gender identity, or cisgender
Total N = 8440 (ASD = NR; GD = 282)
NR
Total Male = 3625 (ASD = NR; GD = 0), Total Female = 4361 (ASD = NR; GD = 0), Total Trans = 55 (ASD = NR; GD = 55), Total Other = 227 (ASD = NR; GD = 227)
Investigate predictors and correlates of audiences enjoying, comprehending, and succeeding with social stories in the Stories Online for Autism (SOFA) digital application
Aim 1: Total N = 568 (ASD = 461; GD = NR); Aim 2: Total N = 127 (ASD = 102; GD = NR); Aim 3: Total N = 161 (ASD = 127, GD = NR)
NR
Aim 1: Total Male = 401 (ASD = NR; GD = NR), Total Female = 135 (ASD = NR; GD = NR), Total Other = 32 (ASD = NR; GD = 32); Aim 2: Total Male = 92 (ASD = NR; GD = NR), Total Female = 24 (ASD = NR; GD = NR), Total Other = 11 (ASD = NR; GD = 11); Aim 3: Total Male = 11 (ASD = NR; GD = NR); Total Female = 33 (ASD = NR; GD = NR), Total Other = 17 (ASD = NR; GD = 17)
Identify the SCQ cut-off score for transgender autistic youth, identify the correspondence between ASD diagnoses and positive SCQ screens, determine the relation between parent- and youth-reported anxiety symptoms and ASD traits
Investigate self-reported binary and non-binary gender experiences in autistic youth, examine consistency between parent-report and youth self-report of gender diversity experiences, and consider the relations among parent- and youth-reported gender diversity with internalizing symptoms
Present the prevalence of autism diagnoses in Norwegian adolescents referred for gender-affirming care, represent autism traits in that population, and investigate autism trait differences based on sex assigned at birth or the presence/absence of a gender diverse identity
Total N = 83 (ASD = 8; GD = 83); SRS normative sample
Total Male = 21 (ASD = 0; GD = 21), Total Female = 62 (ASD = 8; GD = 62)
Examine the association among camouflaging with anxiety and depression controlling for autistic traits, consider gender as a moderator in the relation between camouflaging and social anxiety, generalized anxiety, and depression, and assess the risk of mental health problems at different levels of camouflaging
Total N = 305 (ASD = 305, GD = 22)
NR
Total Male = 104 (ASD = 104; GD = NR), Total Female = 181 (ASD = 181, GD = NR), Total Ninbinary = 18 (ASD = 18, GD = 18)
Compare youth with and without gender diverse identities in empathy, emotional recognition, and social skills
Total N = 36 (ASD = 0; GD = 17)
Total Male = 15 (ASD = 0; GD = 6), Total Female = 21 (ASD = 0; GD = 11)
NR
13 to 18 years
Turkey
Kallitsounaki and Williams (2020a, 2020b) (Mentalising Moderates the Link between Autism Traits and Current Gender Dysphoric Features in Primarily Non-autistic, Cisgender Individuals)
Survey
Investigate the nature of the association among autism, GD, and mentalising
Total N = 101 (ASD = 13; GD = 0)
Total Male = 51 (ASD = NR; GD = 0), Total Female = 50 (ASD = NR; GD = 0)
Total Male = 51 (ASD = NR; GD = NR), Total Female = 50 (ASD = NR; GD = NR)
22 to 70 years
International (online survey)
Kallitsounaki and Williams (2020a, 2020b) (A Relation Between Autism Traits and Gender Self-concept: Evidence from Explicit and Implicit measures)
Survey and case–control study
Examine the link among autism traits with explicit and implicit gender self-concept in the general population
Total N = 101 (ASD = 13; GD = 0)
Total Male = 51 (ASD = NR; GD = 0), Total Female = 50 (ASD = NR; GD = 0)
Total Male = 51 (ASD = NR; GD = NR), Total Female = 50 (ASD = NR; GD = NR)
Replicate Kallitsounaki and Williams findings of a link among autism traits, gender diversity, recalled cross gender behavior, and mentalising in adults from the general population and to assess mentalising ability as a mediator in the relation among autism traits and gender diversity feelings
Total N = 126 (ASD = 2; GD = NR)
Total Male = 29 (ASD = NR; GD = NR), Total Female = 97 (ASD = NR; GD = NR)
Investigate the impact of ASD traits on gender-related cognition, if autistic people have higher rates of gender diversity and recall less gender-typed behavior in childhood, and if transgender indiviuals have elevated ASD traits
Total N = 347 (ASD = 163; GD = 134)
Total Male = 171 (ASD = 79; GD = 66), Total Female = 176 (ASD = 84; GD = 68)
Total Male = 173 (ASD 77; GD = 66), Total Female = 174 (ASD = 86; GD = 98)
Sexual experiences of clinically referred adolescents with features of gender dysphoria
Total N = 182,798 (In GD population, Autistic = 17; GD = 101)
Total Male = 90,968 (ASD = NR; GD = NR); Subsample Total Male = 15 (ASD = 2; GD = 15), Total Female = 91,830 (ASD = NR; GD = 84); Subsample Total Female = 84 (ASD = 15)
NR
14 to 18 years
Finland
Khan et al. (2023a, 2023b) (Co-occurring Gender Dysphoria and Autism Spectrum Disorder in Adolescents)
Case–control study
Examine the prevalence of co-occurring autism and gender diversity among youth and identify demographic differences in diagnosis of gender dysphoria among autistic and non-autistic youth
Total N = 919,898 (ASD = 40,713; GD = 5389)
Total Male = 467,365 (ASD = 30,631; GD = 1407), Total Female = 452,503 (ASD = 10,082; GD = 3982)
NR
9 to 18 years
USA
Khan et al. (2023a, 2023b) (Mental Health of Youth with Autism Spectrum Disorder and Gender Dysphoria)
Case–control study
Understand the associations among autism, gender diversity, and mental health diagnoses in a large sample of adolescents in the US
Total N = 919, 868 (ASD = 40,713; GD = 5389)
Total Male = 467,365 (ASD = NR; GD = NR), Total Female = 452,503 (ASD = NR; GD = NR)
Identify service needs and barriers to those needs for autistic individuals with gender diversity, as well as gender differences in those needs and barriers
Total N = 1204 (ASD = 1204; GD = 36)
Total Male = 748 (ASD = 748; GD = 14), Total Female = 293 (ASD = 293; GD = 20)
Total Male = 847 (ASD = 847; GD = 3), Total Female = 327 (ASD = 327; GD = 3); Total Other Gender = 30 (ASD = 30; GD = 30)
Case–control, chart review, and longitudinal study
Evaluate differences in AQ score between hormone-naïve transgender people and cisgender people, the impact of gender-affirming hormonal treatment on AQ scores, and alexithymia and social anxiety as mediators of change in AQ scores
Cross-sectional study: Total N = 789 (ASD = NR; GD = 388); Longitudinal study: Total N = 62 (ASD = NR; GD = 62)
Cross-sectional study: Total Male = 388 (ASD = NR; GD = 182), Total Female = 378 (ASD = NR; GD = 206); Longitudinal study: Total Male = 24 (ASD = NR; GD = 24), Total Female = 38 (ASD = NR; GD = 38)
Cross-sectional study: Total Male = 435 (ASD = NR; GD = 206), Total Female = 354 (ASD = NR; GD = 182); Longitudinal study: Total Male = 38 (ASD = NR; GD = 38), Total Female = 24 (ASD = NR; GD = 24)
Investigate how autism-related differences may impact the self-report of stigmatization in transgender youth and consider the impact of cognitive and developmental factors
Total N = 65 (ASD = NR; GD = 65)
Total Male = 37 (ASD = NR; GD = 37), Total Female = 28 (ASD = NR; GD = 28)
Total Male = 28 (ASD = NR; GD = 28), Total Female = 37 (ASD = NR; GD = 37)
Explore the autism traits over time in transgender people after cross-sex hormone treatment, controlling for changes in anxiety and age and to explore the impact of sex assigned at birth and changes in anxiety on changes in autism traits over time
Total N = 118 (ASD = 0; GD = 118)
Total Male = 59 (ASD = NR; GD = 59), Total Female = 59 (ASD = NR; GD = 59)
Total Male = 59 (ASD = NR; GD = 59), Total Female = 59 (ASD = NR; GD = 59)
Investigate gender and sexual diversity among autistic females, as well as rates of regretted, unwanted, and sexual encounters among females who identify as transgender and non-heterosexual
Total N = 284 (ASD = 123; GD = 40)
Total Male = 0 (ASD = 0; GD = 0), Total Female = 284 (ASD = 123; GD = 40)
NB: 11 individuals were excluded from the following sample: Total Male = 6 (ASD = 4; GD = 6), Total Female = 255 (ASD = 108; GD = 255), Total Other = 34 (ASD = 22; GD = 34)
Examine sexual distress and its psychological and biological correlates in transgender individuals who have not undergone surgery, and determine the effect of hormonal treatment on sexual distress in this population
Time point 1: Total N = 301 (ASD = NR; GD = 301), Time point 2: Total N = 72 (ASD = NR; GD = 72)
Time point 1: Total Male = 160 (ASD = NR; GD = 160), Total Female = 141 (ASD = NR; GD = 141); Time point 2: Total Male = 38 (ASD = NR), Total Female = 40 (ASD = NR)
Time point 1: Total Male = 141 (ASD = NR; GD = 141);, Total Female = 160 (ASD = NR; GD = 160); Time point 2: Total Male = 40 (ASD = NR; GD = 40), Total Female = 38 (ASD = NR; GD = 38)
Demonstrate the need for improved measures of gender identity for autistic adults by presenting the accuracy of a standard question about sex and gender
Total N = 1527 (ASD = 1527; GD = 35 to 60, depending on the measure)
Total Male = 1031 (ASD = 1031; GD = 18); Total Female = 436 (ASD = 436; GD = 24)
Total Male = 1015 (ASD = 1015; GD = 27), Total Female = 418 (ASD = 418; GD = 15), Total Other = 45 (ASD = 35; GD = 34)
Examine the relations among executive functioning with an autism spectrum disorder diagnosis, internalizing symptoms, and gender-affirming medical intervention status
Total N = 124 (ASD = 35; GD = 124)
Total Male = 42 (ASD = NR; GD = 42), Total Female = 82 (ASD = NR; GD = 82)
Total Male = 81 (ASD = NR; GD = 81), Total female = 41 (ASD = NR; GD = 41), Total Nonbinary = 2 (ASD = NR; GD = 2)
In a sample of non-autistic, slightly sub clinically autistic, and diagnosed autistic individuals, examine: default mode neural functional connectivity, consider how default mode functional connectivity relates to autism traits, internalizing psychopathology, gender dysphoria, and perceived sexual/gender-minority related stigma, and investigate gender-related default mode neural functional connectivity
Total N = 45 (ASD = 15; Subclinical ASD = 14; GD = 45)
NR
Total Male = 26 (ASD = 9; GD = 26), Total Female = 19 (ASD = 9; GD = 19)
Develop and refine the first self-report/self-advocacy tool for autistic gender-diverse young adults that focuses on needs, risks, and resilience using Delphi and community-based approaches
Study Personnel: Total N = 8 (ASD = 5; GD = 6); Experts: Total N = 25 (ASD = 16; GD = 16)
NR
Study Personnel: Total Male = 3 (ASD = NR; GD = NR), Total Female = 4 (ASD = NR; GD = NR), Total Gender-Diverse = 3 (ASD = NR; GD = 3), Total Gender-Exploring/Expansive/Queer = 2 (ASD = NR; GD = 2), Total Agender = 1 (ASD = NR; GD = 1); Experts: Total Cisgender Male = 1 (ASD = 0; GD = 0), Total Cisgender Female = 7 (ASD = 0; GD = 0), Total Femme nonconforming = 1 (ASD = 0; GD = 1), Total Formerly Transgender Male current Tomboy Female = 1 (ASD = 1; GD = 1), Total Transgender Male/Transmasculine = 2 (ASD = 2; GD = 2), Total Transgender Female/Transfeminine = 5 (ASD = 5; GD = 5), Total Genderqueer = 1 (ASD = 1; GD = 1), Total Nonbinary = 7 (ASD = 7; GD = 7)
Describe the co-occurring psychiatric disorders, age at onset of gender diverse identity, pubertal timing, as well as peer and romantic relationships among gender-referred autistic and non-autistic adolescents
Total N = 106 (ASD = 19, GD = 106)
Total Male = 53 (ASD = NR; GD = 53), Total Female = 53 (ASD = NR; GD = 53)
Total Male = 53 (ASD = NR; GD = 53), Total Female = 53 (ASD = NR; GD = 53)
Assess the mental health problems that are perceived as diseases by medical professionals involved and uninvolved in psychiatry (physicians, nurses), government officials, and the general public
Total N = 3280 (ASD = NR; GD = NR)
NR
NR
General public: 18 to 75 years, Medical professionals: under 65 years
Assess the association among gender diversity and autism in a sample of Chinese children as well as whether specific subdomains on the Autism Spectrum Quotient and sex-specific factors were associated with gender diversity
Total N = 379 (ASD = 0; GD = 0)
Total Male = 187 (ASD = 0; GD = 0), Total Female = 192 (ASD = 0; GD = 0)
Compare the unmet health care needs between autistic/LGBTQ + individuals and autistic/cisgender/straight individuals and examine the state policy and demographic factors that contribute to those unmet needs
Total N = 120 (ASD = 120; GD = NR)
NR
Total Male = 48 (ASD = 48; GD = NR), Total Female = 46 (ASD = 46; GD = NR), Total Other = 26 (ASD = 26; GD = 26)
Compare gender diverse individuals and cisgender individuals on autism diagnoses, autistic traits, suspected autism, and neurodevelopmental disorders and psychiatric conditions associated with autism
Total N = 640,808 (ASD = 27,919; GD = 3777)
NR
Total Male = 252,976 (ASD = NR; GD = NR), Total Female = 384,055 (ASD = NR; GD = NR), Total Transgender/Nonbinary/Other = 3777 (ASD = NR; GD = 3777)
15 to 90 years
International
NR, not reported; GD, gender diverse
Comparison Between Reviews
Comparison with Other Systematic Reviews
A comparison between the current review and all other systematic reviews that were published between 2018 and 2024 and mention one of the keywords is presented in Table 1. Although 18 reviews published between 2018 and 2024 met inclusion criteria, only 9 of those reviews specifically focused on the intersection of autism and gender diversity. There were overlapping studies between the current review and 12 of the recently published review articles, but the current main results identified 59 additional studies that were published after August 2018 that were not captured in previously published reviews. The reason that some reviews did not have overlapping studies with the current review was because they mostly included studies prior to 2018 and did not focus on the intersection, specifically.
Review of Research Published After 2018
Table 2 presents descriptive statistics on year of publication, type of study design and methods used, the main focus of the article, general characteristics of the participants, and country of origin of study/authors for quantitative studies and Table 3 presents the same information for qualitative studies. Additional information, including journal name, research field, and country of origin of participants is in the supplemental materials both for studies that were published after August 2018 through January 2024 (Supplementary Materials Table S1). Information about studies published during or prior to August 2018 that were not included in the 2018 reviews due to changes in search terms but are presented in Supplementary Materials Table S2.
Develop an understanding of positive body image in autistic adults in the UK, including how autistic adults experience their body image, how positive body image manifests among autistic adults, and characteristics of positive body image that are unique to autistic adults
Total N = 20 (ASD = 20; GD = NR)
NR
Total Male = 8 (ASD = 8; GD = NR), Total Female = 7 (ASD = 7; GD = NR), Total Nonbinary = 4 (ASD = 4; GD = 4), Total Agender = 1 (ASD = 1; GD = 1)
Examine how autistic LGBTQIA + individuals experience and understand their multiple minority identities and whether those identities impact their opportunities for participation in the LGBTQIA + community
Total N = 12 (ASD = 9; GD = 12)
NR
Total Male = 3 (ASD = 2; GD = NR), Total Female = 4 (ASD = 4; GD = NR), Total Non-Binary = 4 (ASD = 3; GD = 4), Total Agender = 1 (ASD = 0; GD = 1)
Present the experiences of the families of youth with gender diversity within the GAIA-Nueva Crianza Civil Association and families of Autistic youth within the Lazos Azules civil association
Provide vignettes on the autism/neurodiversity and gender diversity lived experience, emergence of identities, challenges faced by youth with the co-occurrence, and propose a community-based participatory research model for the autistic/neurodiverigent and gender diverse community
Use a repeated-measures, community-based participatory research framework with neurodivergent, GD youth and families to identify care and support needs, develop interventions based on those needs, and receive feedback on interventions and study findings
Present information on the assessment of gender diversity in an Autistic adolescent
Total N = 1 (ASD = 1; GD = 1)
Total Female = 1 (ASD = 1; GD = 1)
Total Male = 1 (ASD = 1; GD = 1)
16.5 years
Slovenia
NR, not reported; GD, gender diversity
Comparison with Øien et al. (2018) and Nordahl-Hansen et al. (2019)
The current review was statistically compared to the reviews by Øien et al. (2018) and Nordahl-Hansen et al. (2019) as there was overlapping search strategies and coding structures that allowed for comparisons.
Year
As is apparent in Fig. 2, there was a sharp increase in studies on the intersection of gender identity and autism in 2014 and the number of studies has continued to increase about every other year since 2018.
Fig. 2
Number of articles published per year
×
Methodology
From August 2018 through January 2024, a majority of studies were quantitative (n = 69, 69.7%); 2 studies used mixed methods. There was not a significant difference between studies that were included in the original review and current studies in the use of qualitative versus quantitative methodologies based on a Fisher’s Exact Test (p = 0.270). The most common specific methodologies were case–control (n = 43, 43.4%), survey studies (n = 20, 20.2%), and/or clinical chart reviews (n = 14, 14.1%). There were 7 longitudinal studies (7.1%) and 9 case studies (9.1%).
Age
There was not a statistically significant difference in the ages studied when comparing the original review and the current studies (p = 0.060). In both reviews (i.e., older and newer studies), the largest proportion of studies were conducted with adult participants (age 18 years and older) (n = 18, 34.0% for the original review; n = 42, 42.4% for the current review). By observation, there was a trend decrease in the number of studies that focused only on children (age 12 years and younger) and more studies that spanned age categories (e.g., included adolescents with adults or children, adolescents, and adults). See Table 4 for comparisons and Fig. 3 for distributions.
Table 4
Number of studies that focus on each age group presented in the original review (“Original”, 1981 through August 2018) and current review (“Current” after August 2018 through Dec 2022) as number of studies and percent of total (%)
Age group
1 Children
2 Adolescents
3 Adults
1&2
1&2&3
2&3
Not reported
Age in years
< 12
13–18
≥ 18
≤ 18
≥ 13
1981–08/18 n = 53
10 (18.9%)
8 (15.1%)
18 (34.0%)
10 (18.9%)
2 (3.8%)
4 (7.5%)
1 (1.9%)
9/18–01/24 n = 99
4 (4.0%)
12 (12.1%)
42 (42.4%)
14 (14.1%)
8 (8.1%)
14 (14.1%)
5 (5.1%)
Fig. 3
Number and percentage of studies representing each age group
×
Participant Country of Origin
Among studies published after August 2018 and before or during January 2024, the research participants in studies were primarily from Europe (n = 29, 29.3%), North America (n = 27, 27.3%), or multiple countries (n = 15, 15.2%), as exhibited in Fig. 4. A Fisher’s Test indicated a significant difference between the Original Review (studies published prior to August 2018) and Current Review (August 2018 through January 2024) in the distribution of participant country (p = 0.0005), as displayed in Table 5. By observation, differences were likely driven by an increase in studies from Australia and South America, an increase in studies recruiting participants from multiple countries or online studies that did not specify country of participants, and a decrease in studies from Asia.
Fig. 4
Number of studies representing participant country of origin
Table 5
Researchers’ and participants’ country of origin in each review
Asia
Australia
Europe
North America
South America
International
Online
Participant country of origin
1981–08/18 n = 50
6 (12.0%)
1 (2.0%)
21 (42.0%)
19 (38.0%)
0 (0%)
3 (6.0%)
NR
09/18–01/24 n = 99
3 (3.0%)
9 (9.1%)
29 (29.3%)
27 (27.3%)
3 (3.0%)
15 (15.2%)
13 (13.1%)
Researcher country of origin
1981–08/18 n = 53
6 (11.3%)
4 (7.5%)
24 (45.3%)
19 (35.8%)
0 (0%)
0 (0%)
N/A
09/18–01/24 n = 99
1 (1.01%)
11 (11.1%)
35 (35.4%)
33 (33.3%)
3 (3.0%)
16 (16.1%)
N/A
3 studies did not report participant country of origin in the original review
×
Research Team Country of Origin
There was also a significant difference between older and more recent studies regarding the country of origin of the researcher team (χ2(5) = 15.45, p = 0.009). See Table 4 for comparisons. For single country studies, most originated from Europe, North America, or Australia, as shown in Fig. 5. However, relatively more studies in recent years involved collaborations among researchers from more than one country; these studies are labeled “International” in Table 4 and included a European and North American country (n = 2) or a North American, European, and Asian country (n = 2).
Fig. 5
Number of studies representing researchers’ country of origin
×
New Research Categories: Published Between August, 2018 Through January, 2024
Reflecting the expanded scope for the current review, we also abstracted the following characteristics of the recent studies: study research goals, study inclusion/exclusion criteria, autism diagnostic or trait measure used, gender characterization measure employed, assigned gender at birth and gender identity of participants, and inclusion of gender affirming care. None of these categories were coded in the original review.
Research Goals
Several studies had more than one aim and so were included in more than one category of research goals in the counts below. The most common aim of the studies was to identify common conditions faced by those at the intersection of autism and gender diversity (n = 36 studies, 36.4%). Other common foci of studies included: 1) experiential features of the autism and gender diversity intersection (n = 22, 22.2%) and 2) characterization of rates of autism diagnoses and/or the presence of autistic traits in gender diverse populations (n = 20, 20.2%). Relatively less common were studies on the prevalence of gender diverse identities among autistic samples (n = 12, 12.1%). Care and support needs were studied in 16 publications (16.2%) and perspectives of clinicians and parents were studied in 8 publications (8.1%). Other themes included sexuality and sexual experiences (n = 11, 11.1%) and gender diversity and autism from the perspective of the “extreme male brain theory” (n = 2, 2.0%). These themes were not always mutually exclusive.
Inclusion/Exclusion Criteria
The inclusion/exclusion criteria for studies ranged widely due to the different foci in the research. Inclusion/exclusion criteria were not reported in 17 studies (17.2%). For studies utilizing clinical data, participants were recruited from a range of settings, including gender diversity clinics, autism clinics, etc.; (n = 16, 16.2%). In 19 studies, participants were required to have an official or self-diagnosis of autism (19.2%). In 13 studies, participants were included if they had diagnoses of gender dysphoria (13.1%). Three studies (3.0%) attempted to include individuals with different communication preferences by offering communication or response accommodations (e.g., participants could complete an interview orally, in writing, or with an alternative communication device, depending on preference).
Regarding exclusion criteria, individuals with specific co-occurring conditions (e.g., psychosis) were excluded from 12 studies (12.1%) and individuals with intellectual disability were excluded from 9 studies (9.1%). Six studies (6.1%) restricted the range of gender diverse identities (e.g., excluded fluid gender identities or those who reported “other” gender). Common reasons for restricting gender categories were that there were too few participants in specific categories and/or studies had more power if they restricted analyses to a small number of groups.
Autism Trait Characterization or Diagnostic Confirmation
The most common method for ascertaining autism diagnosis was based on self-report (n = 36, 36.4%) or file review (n = 30, 30.3%). The self-report Autism Quotient (AQ; Baron-Cohen et al., 2001) was the primary measure used to measure autistic traits and/or used as diagnostic classification/confirmation (n = 25, 25.2%). The only other self- or parent-report measures of autism traits that were used with some regularity were the Social Communication Questionnaire (Rutter et al., 2003, n = 6, 6.1%) and the Social Responsiveness Scale (Constantino & Gruber, 2012, n = 11, 11.1%). Clinician administered/scored autism assessments included the Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2, Lord et al., 2012) (n = 10, 10.1%), the Autism Diagnostic Interview-Revised (ADI-R, Lord et al., 1994) (n = 8, 8.1%), or DSM/ICD checklists (n = 8, 8.1%).
Gender Identity Characterization
The method for characterizing gender identity was reported in 95 studies (96.0%). Eighteen different methods were used to characterize elements of gender diversity. The most common methods were to (1) ask participants their gender identity (n = 50, 50.5%) or (2) to conduct a medical or clinical file review of a gender dysphoria diagnosis (n = 25, 25.3%). The Gender Identity/Gender Dysphoria Questionnaire was used in 9 studies (9.1%). In three studies parents/caregivers were asked about their child’s gender (3.0%).
Gender Identity and Assigned Gender at Birth
A total of 27,182,721 participants were included in the current review. Of note, some studies were population studies (e.g., Chao et al., 2023), so the total number of participants is large. Additionally, some studies employed the standardization samples for measures without characterization of the standardization participants in terms of autism status or gender diversity (e.g., Kaltiala-Heino et al., 2019). Further, 21 of the studies did not report the number of individuals with autism diagnoses and 19 studies did not report the number of gender diverse individuals. Therefore, the proportion of autistic and gender diverse individuals compared to all individuals included across the studies is relatively low. As displayed in Table 6, 166,788 (0.61%) participants had diagnoses of autism, as reported in the studies, and 38,596 (0.14%) participants were described as being gender diverse. Neither assigned gender at birth nor gender identity were reported in 7 studies; 19 studies reported assigned gender at birth but not gender identity, and 27 studies reported gender identity but not assigned gender at birth. Only half of the studies (n = 46) reported both gender identity and assigned gender at birth.
Table 6
Sample sizes broken down by group, designated sex at birth, and gender
Total N
Sex
Gender
Male
Female
Male
Female
Nonbinary
Other
Autistic
166,788
72,829
22,792
3345
2128
162
325
(n studies)
(n = 78)
(n = 40)
(n = 41)
Gender diverse
38,596
10,282
11,551
4248
3924
2343
6288
(n studies)
(n = 80)
(n = 44)
(n = 54)
Total
27,182,721
1,280,782
1,084,188
627,289
866,878
2343
6288
(n studies)
(n = 98)
(n = 65)
(n = 73)
Gender Affirming Care
There were 29 (29.3%) studies that reported on rates of individuals who were receiving and/or who had received gender affirming care. Of those, 16 studies (16.2%) reported specifically on rates of autistic, gender diverse individuals who received gender affirming care.
Discussion
Summary
This current review of publications on gender diversity and autism published between September 2018 and January 2024 provides an update to, and expansion of a previous review on gender diversity and autism (Nordahl-Hansen et al., 2019; Øien et al., 2018). Notably, there were about 1.5 times more studies published in the five and a half-year period after August 2018 through January 2024 as there were in the 37-year period from 1981 through August 2018, reflecting the growing research interest in this common intersection. The largest increase in publication occurred between 2016 and 2018, with other spikes occurring between 2019–2020 and 2021–2022. The increase in publications over the past 6 years parallels increased international recognition of the intersection of gender diversity and autism in clinical and community settings (Network AWN, 2023), as well as numerous WPATH international trainings on the clinical needs of autistic gender people (WPATH, 2018; WPATH, 2022).
The largest proportion of both recent and older publications present quantitative studies and studies focused on adults. Shifts in researcher and participant country of origin suggested a recent increase in international or multinational research, though with a decrease in studies from Asia. The broadening of locations of research participants and nationalities of research teams parallels recent increases in social-cultural conversations regarding gender diversity and gender identity, a trend which continues to expand globally (Shannon et al., 2019). The ability to safely reveal one’s gender diversity—and access the very terms/language associated with gender diversity—is not yet a universal; there are many countries and communities in which communicating gender diverse experiences would lead to punishment, and sometimes even death. The varying contexts regarding gender diversity across countries, as well as access to autism diagnostics, certainly drives some of disparities in reports from various global regions. However, there were numerous countries and communities not represented in the current research output that have more accepting attitudes and policies regarding gender diversity, and there is some evidence of trends toward greater acceptance in certain parts of the world (e.g., in parts of South America; Roberts, 2019). This may have facilitated the increase in the number of studies of the autism-gender diversity intersection within South American countries since the last review (i.e., 0–3).
Overall, research on the intersection of autism and gender diversity has continued to be primarily European- and North-American-focused both in participants and research teams. While online surveys allowed for broad international inclusivity, they were still constrained by language and other access issues (e.g., access to technology). Inconsistent reporting of country of residence of participants in online studies (n = 15) precluded investigation of demographic differences that may influence the experiences of gender diverse autistic people.
Autistic Voices
A common goal of recent studies was to report on the prevalence of autism and/or autistic traits in gender diverse individuals and vice versa. Yet this type of research may not be a priority for autistic gender-diverse individuals (Strang et al., 2019). There has been a notable trend in recent years, particularly 2023, towards elucidating lived experiences and care needs of autistic gender diverse individuals. Collaborations with stakeholders will help set research priorities and agendas to ensure that study goals and design are reflective of the communities being described. Collaboration with autistic gender diverse co-researchers would also likely improve the quality of surveys and manuscripts to ensure that researchers and clinicians are accounting for important experiential and demographic factors and presenting them appropriately.
Nine studies explicitly excluded individuals with intellectual disability. Rates of inclusion of individuals with intellectual disability was impossible to discern in most studies and this subgroup is under-represented in this area of research (McPhate et al., 2021; Nunes-Moreno et al., 2022). Due to the lack of inclusion of individuals across a full range of cognitive and verbal abilities, key questions remain unanswered. For example, what is the proportion of autistic individuals with intellectual disability who are gender diverse? Do gender characterization approaches provide individuals with intellectual disability and/or significant communication differences the opportunity to appropriately report on their inner experience of gender? One way to potentially increase accessibility for individuals with intellectual disability or individuals with varied communication needs to participate and communicate gender would be to allow for choice in responding such as through oral, written, or alternative communication devices; this practice was only employed in two studies in the current review. Of note, a recent initiative using a community-based participatory process to characterize gender identity in autistic adults concluded that informant proxy report (i.e., report by a person who knows the autistic individual) of an individual’s gender identity may be ethically inappropriate (Nicolaidis, 2021). That is, reporting on inner experiences such as gender identity may be too personal and internal to understand through behaviors alone making proxy report highly suspect.
Measurement Questions
There have been some methodological changes in the characterization of gender diversity and autism between the two reviews, but improvements are needed. Regarding gender, many recent studies have moved away from the single-item on the Child Behavior Checklist or Youth Self-Report, “wishes [wish] to be the opposite sex,” a measurement approach employed in many previous studies that has been criticized due to its binary nature (e.g., Manjra & Masic, 2022). The Gender Identity/Gender Dysphoria Questionnaire was used in several studies; this measure is reinforcing of the gender binary and contains stigmatizing language (e.g., “hermaphrodite” sic). Many studies also rely on a diagnosis of gender dysphoria, which represents only a subset of gender diverse individuals (e.g., individuals whose gender needs have not been addressed; de Vries et al., 2010). Future research could employ the US National Academy of Sciences’ recommended two-pass system for identifying gender diverse individuals; this approach asks first about gender identity and then assigned gender at birth in order to identify gender diverse participants (National Academies of Sciences, Engineering, and Medicine, 2022). An option for for further gender characteriziation is an open-ended textbox asking about a person’s gender; this provides participants with opportunities to offer their personal gender identity descriptors. However, such approaches might need to be combined with multi-dimensional continuous measurement of gender, as analytics based on multiple gender identity categories may result in overly small individual cell sizes for statistical analyses. A solution has been developed by Strang et al. (2023a, 2023b, 2023c, 2023d): “The Gender Self-Report,” calibrated in autistic and not autistic youth and adults, captures continuous non-binary and binary gender diversity factors, which can augment individuals’ self-descriptions of their gender and side step the small cell size challenge for analytics.
The characterization of autism and autistic traits also requires careful consideration. The self-report AQ remained the most commonly used measure in recent studies. But trait-based measures, such as the AQ, do not provide a clinical autism diagnosis, a process that includes an expert clinician evaluating an individual to characterize autism diagnosis or traits based on multi-modal information. Clinical assessments, which include, when possible, intervies and assessment of early developmental history, may help to distinguish autism traits from anxiety, depression, or minority-related stress. Emerging approaches for better characterizing autism in girls, women, and gender diverse individuals broadly may also be important, given late or missed diagnosis reported in a subset of individuals who are not cisgender male (Begeer et al., 2013; Lai, Lin, & Ameis, 2022; McQuaid et al., 2023a, 2023b, 2023c). Further, research will be needed on the use of existing state of the art autism assessments, as they were designed based primarily on cisgender male presentations of autism and may be less sensitive in other genders (Lai et al., 2022; Rea et al., 2023).
Clinical Considerations
Only a minority of studies (n = 29) reported on gender affirming medical care received by samples. Yet, such treatments have been shown to improve mental health in gender diverse individuals who require them (e.g., Aldridge et al., 2021). Moving forward, researchers should consider the impact of various gender affirming care procedures on their findings, as well as potential challenges accessing such care, challenges which have been previously linked to autism status (i.e., unique care barriers experienced by autistic gender diverse individuals; Strang et al., 2018a, 2018b, 2018c, 2018d). There should also be more consideration for, and reporting of, other key aspects of gender affirmation, such as pathways and experienced barriers to social transition.
Age and developmental stage will be important to measure and model in future research designs as these factors have implications for clinical and medical recommendations. Extant research often groups together individuals at different developmental stages (e.g., adolescents and adults), which may obscure the impact of age and developmental stage on the presentation of—and needed supports for—gender diversity and autism. There has been increased attention on adult populations since the 2018 review, which is in keeping with an increasing recognition that autistic adults have been significantly under-represented in research, generally (Malik-Soni et al., 2021). In studies across developmental stages, it will be important to consider timing of autism diagnosis, including potential differences in timing of autism diagnosis for gender diverse individuals. There was a trend since the previous review toward fewer child focused studies. Longitudinal research on trajectories of autistic children as they become aware of their gender diverse identities as well as gender diverse individuals who come to know their autism is needed to understand how gender development, autistic development, and life experiences intersect and lead to patterns of resilience and/or risk.
Limitations
This review reports on empirical studies of the intersection of gender diversity and autism published after August 2018 and not included in the previous 2018 review or update to the review. This review was not pre-registered, as Prospero does not allow for pre-registration of scoping reviews and this is an update to a previous review. We did not include unpublished studies as they were not peer-reviewed. Although no language restrictions were set, papers in various languages that do not provide English abstracts may not have been detected. The initial review published in 2018 did not code several important characteristics of studies and study samples, including gender of participants, gender and assigned gender at birth, method of characterizing autism or gender diversity, information on gender affirmation/transition, or exclusion criteria. Thus, those domains could not be compared between the older and the current reviews. We included these newly coded domains in the supplementary materials with the goal of supporting future scoping reviews with a broader scope. Future studies should also more equitably include stakeholders, with stakeholder collaborators representing a broad range of ethnoracial identities and lived experiences.
Conclusion
This review described empirical studies of the intersection of gender diversity and autism since the 2018 review. Overall, this review indicated growth in the quantity and quality of studies in the field of gender identity and autism, although substantial improvement in methodologies is still needed. We encourage researchers to be sensitive in their use of terminology, measures, and methods. Research into the intersection of autism and gender diversity requires deep thoughtfulness and careful consideration of the real-world implications and impact of this research on the lives of individuals autistic gender-diverse people.
Declarations
Conflict of interest
Hannah M. Rea, Roald A. Øien, Sara Jane Webb, John Strang, Shivam Bansal, and Anders Nordahl-Hansen report no affiliations with or involvement in any organization or entity with any financial interest in the outcome of this project.
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
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A descriptor for people whose gender matches their assigned gender at birth
Gender diversity
When an individual’s gender identity or expression differs from cultural norms associated with assigned gender at birth
Gender fluid
A descriptor for people whose gender identity fluctuates
Gender dysphoria
DSM-5 diagnosis capturing psychological distress related to the discordance between one’s gender identity and one's sex designated at birth (APA, 2013; World Health Organization, 2018; 2021)
Gender identity
The inner experience of gender, such as whether one experiences themselves as nonbinary, male, female, agender, etc. (APA, 2015)
Gender incongruence
ICD-11 designation for difference between gender identity and assigned gender at birth
Gender nonbinary
Gender identity that is neither male or female
Medical gender affirmation
Medical approaches used to support an individual’s gender affirmation
Assigned gender at birth
The designation of sex that is made at birth based on apparent characteristics, typically related to the genitals
Transgender binary
A female or male gender identity that differs from an individual’s assigned gender at birth
Transgender female
An individual whose gender identity is female and who was designated male at birth
Transgender male
An individual whose gender identity is male and who was designated female at birth
Assigned gender at birth here is defined as biological and physiological characteristics often associated with being male, female, and/or having a variation of sex traits (also known as difference of sex development or intersex).