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Youth with gender dysphoria may have increased risk for Asperger's syndrome

Recent findings indicated higher rates of Asperger’s syndrome among youth with gender dysphoria.

“There is evolving evidence that children and adolescents with gender dysphoria have higher than expected rates of autism spectrum disorder (ASD),” Daniel E. Shumer, MD, MPH, of Boston Children’s Hospital, and colleagues wrote. “However, clinical data on ASD among youth with gender dysphoria remain limited, particularly in North America where no published studies, to our knowledge, have formally evaluated the prevalence of children and adolescents with ASD presenting with gender dysphoria.”

To further assess the relationship between gender dysphoria and ASD, researchers conducted a retrospective review of patient chart data for 39 youth presenting to a gender clinic at a large U.S. pediatric hospital from 2007 to 2011. Study participants had a mean age of 15.8 years. Twenty-two were assigned a male sex at birth and 17 were assigned a female sex at birth.

Overall, 23.1% of the study cohort had an Asperger’s syndrome Quotient (ASQ) above 80, indicating a probability of Asperger’s syndrome of possibly (n = 1), likely (n = 6) or very likely (n = 2). Of these, five were assigned a male sex at birth and four were assigned a female sex at birth.

Average age at ASQ evaluation was 16.2 years.

Prior to presentation, one participant had a long-standing autism diagnosis, one had a long-standing diagnosis of Asperger’s syndrome and two had recently been diagnosed with Asperger’s syndrome.

Of the five participants not previously diagnosed with ASD, four had been diagnosed with other mental health disorders.

“Our findings are consistent with growing evidence supporting increased prevalence of ASD in gender dysphoric children … Differences in androgen exposures on the developing fetal brain have been suggested as a potential contributor in gender development as well as in the development of ASD. Genetic factors have also been implicated in both ASD and gender dysphoria. In addition, it has been proposed that the social rigidity typical of ASD contributes to inflexibility of gender and contributes to increased prevalence of ASD in gender dysphoric children,” the researchers wrote. “To guide provision of optimal clinical care and therapeutic intervention, we recommend routine assessment of ASD in youth presenting for gender dysphoria.” – by Amanda Oldt

Disclosure: The researchers report no relevant financial disclosures.