Despite the lack of clarity about the exact prevalence in youth, particularly prepubertal youth, it’s clear that an increasing number of children and teenagers are presenting to multidisciplinary clinics for evaluation and management of gender identity issues (Pediatrics. 2012 Mar;129:418-25). Recent literature has indicated that the prevalence of individuals overall identifying as transgender and/or experiencing gender dysphoria is about 0.2%-0.3% of the population (JAMA Pediatr. 2016;170:423-4), while being mindful of the variability in the characteristics of the populations included in certain studies.
Although gender variation, in and of itself, is not a disorder, these youth are a considerably underserved and poorly researched population with specific medical and mental health needs. They are at risk for being victims of abuse and developing a range of mental health struggles, including mood disorders, suicidal thinking, self-harming, and anxiety, possibly because of the stresses they experience socially (family rejection, victimization). In addition to these more discrete psychiatric phenomena, co-occurring autism spectrum disorders (or traits thereof) are increasingly being recognized in transgender youth.
Maddie is a 20-year-old college sophomore who presents for an autism diagnostic evaluation after being seen by a mental health colleague for consultation regarding medical treatment associated with female-to-male gender transition. In brief, Maddie reports a longstanding history of feeling “socially overwhelmed.” He is an articulate young adult who shares that he’s frequently uncomfortable in social situations, explaining that he has trouble “reading people,” acknowledging a tendency to become overly focused on the details of others and missing the gestalt of interpersonal interactions. Maddie discloses never having close friendships, and although he identifies as lonely, he doesn’t “understand the appeal of casual social interactions.” Maddie and his mother seek an understanding of such social difficulties, wondering about the possibility of Asperger’s syndrome.
Maddie, whose assigned gender at birth was female, now identifies as male. His mother recalls him to have been a precocious preschooler in terms of language development who had no significant developmental delays and became, per report, increasingly withdrawn in elementary school. Over the years, educators have commented repeatedly on the fact that Maddie has needed to work on his “people skills,” with past providers ascribing such struggles to anxiety and social awkwardness that were thought to inherently accompany gender-variant behaviors and thinking. Maddie socially transitioned from a female to male in grade 11 and began taking prescribed testosterone about 4 years ago.
In the interview, Maddie is a hesitant male-appearing individual whose eye contact and spontaneity are limited. He has a guarded manner, and although he is able to answer questions posed to him, rapport is difficult to establish as he appears interpersonally uncomfortable.
Prior to the visit, Maddie’s mother completed the Social Responsiveness Scales, which revealed elevated scores in the area of Social Communication and Social Motivation. Despite appearing cognitively bright and having an array of academic and creative strengths, Maddie’s troubles forming meaningful relationships are striking. Deficits in social-emotional competence are incommensurate with his suspected cognitive abilities, and although he relates learning social skills from film over the years, he endorses pervasively compromised social-communication aptitudes and enduring functional impairments. “I’m always playing catch-up socially,” he shares, wondering how this will affect him in his nursing career.
Maddie and his mother participated in an autism diagnostic evaluation, including the administration of the Autism Diagnostic Interview–Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS). The evaluation revealed a profile of social impairments and inflexible thinking dating back to early childhood that supported a diagnosis of an autism spectrum disorder (ASD). Other diagnoses, including anxiety disorders, a depressive disorder, a social pragmatic communication disorder, and a nonverbal learning disorder, were considered, but ultimately it was concluded that ASD best captured Maddie, who also continued to display features consistent with gender dysphoria.
Over the past 30 years, the relationship between gender-related concerns and ASD has begun to be discussed in the scientific literature, beginning with case reports and more recently with a retrospective chart study that yielded results suggesting that subjects diagnosed with ASD were almost eight times more likely to report gender variance than a nonreferred standardization sample of the Child Behavior Checklist (CBCL) (Transgender Health. 2016 Feb;1:63-8). These results echo those of a prior study showing that 7.8% of individuals presenting for an evaluation in a Dutch gender clinic had an ASD diagnosis (J Autism Dev Disord. 2010 Aug;40:930-6).
With the individual prevalences for ASD and gender dysphoria taken into account, these numbers suggest that the prevalence of ASD in gender-dysphoric youth is about four times higher than that found in the general population (Sex Med Rev. 2016;4:3e14). These data raise questions regarding potential shared etiology and the neurobiology between a disorder of social communication and gender identity–related issues; however, to date, despite several theories attempting to explain the connection (the notion of an “extreme male brain,” role of sex hormones, etc.), the relationship remains puzzling. Some have argued that the rigid thinking that can characterize ASD may lead those individuals who display any gender-variant behaviors to automatically identify as the gender opposite their biologic gender, even though they aren’t necessarily experiencing frank gender dysphoria or a core gender identity that is firmly discordant from their anatomical sex. Thinking about the relationship from another perspective, perhaps those with ASD are less aware of the social constructs of gender and are able to express their gender identity (whether it be crossgender or cisgender) more freely and without the worry of how they may be perceived by others. Undoubtedly, a complex interplay between ASD and gender dysphoria/gender-nonconforming behavior is suspected, and more quality research is needed – research that, at a minimum, is informed by the use of representative sample groups drawn from all developmental periods and well-defined diagnostic constructs.