Hiding in Plain Sight: Females with ASD

A multi-ethnic group of six boys and girls sitting on the floor of a library, reading with a therapy dog, a goldendoodle. The dog handler is a mature woman in her 50s who is smiling holding a book and reading aloud. The girl 3rd from the left has down syndrome.

Posted in Development and Learning Disability Diversity, Equity, Inclusion Early Childhood  |  Tagged ,

by Anna Missner (GU ’22), October 25, 2021

One aspect of disability that warrants attention is the sex disparity in Autism Spectrum Disorder (ASD) diagnoses. One in 54 children in the United States are diagnosed with ASD, and for every four males diagnosed, only one female is (CDC, n.d.). While part of this discrepancy can be attributed to biological differences between males and females that protect females from ASD, the disparity is exacerbated by biases in diagnostic measures and the perception of ASD as a male disorder. As a result, many females with ASD, particularly those without co-occurring intellectual disabilities (ID), and thus more mild manifestations of ASD, remain undiagnosed.

Females are likely biologically protected from ASD, though the reason for this is not entirely known. Some postulate that the hormone testosterone underlies many characteristics of ASD, and females have less testosterone than males, resulting in less ASD among females (Hull et al., 2020). Another explanation is that the X chromosome is protective against ASD, and because females have one more X chromosome than males, females are more protected from ASD (Hull et al., 2020). However, a specific protective gene on the X chromosome has yet to be found (Hull et al., 2020). Thus, while female biology likely plays some role in protecting them from ASD, the reasons for this effect are not entirely known.

While biology plays a role in the ASD diagnostic sex disparity, biases and the perception of ASD as a male disorder greatly perpetuate the discrepancy. Ratto et al. (2019) and Lundstrom et al. (2019) found that females must have more ASD symptoms than males to meet the criteria on the ASD diagnostic measures most commonly used today, such as the Autism Diagnostic Interview (ADI). Thus, research by Ratto et al. (2019) and Lundstrom et al. (2019) reveal that females must have a stronger manifestation of ASD than males to obtain a diagnosis, suggesting that females with more mild symptoms of ASD, such as those without co-occurring ID, remain undiagnosed. Researchers attribute these findings to the fact that the ASD diagnostic measures most commonly used today were developed based on predominantly male samples. Therefore, these measures are skewed towards detecting a male type of ASD. While females with strong symptomology or a prototypical male manifestation of ASD meet the criteria on these diagnostic measures, females with different patterns of ASD or less severe symptoms are missed by these diagnostic measures.

The ASD diagnostic sex disparity can result in poor mental health among females that remain undiagnosed in addition to missed opportunities for early intervention. Females with ASD who remain undiagnosed may feel alienated and confused, resulting in mental health issues such as depression and anxiety (Hull et al., 2020). These females also miss the opportunity for early intervention, which is the most crucial and effective time to intervene. By spreading awareness of the ASD diagnostic sex disparity, I hope to shift the current perception of ASD to include both males and females.

References

Centers for Disease Control and Prevention (CDC). (n.d.) “Data and statistics on autism spectrum disorder.” www.cdc.gov/ncbddd/autism/data.html.

Hull, L., Petrides, K. V., & Mandy, W. (2020). The female autism phenotype and camouflaging: A narrative review. Review Journal of Autism and Developmental Disorders, 1-12. doi:/10.1007/s40489-020-00197-9.

Lundstrom, S., Marland, C., Kuja-Halkola, R., Anckarsater, H., Lichtenstein, P., Gillberg, C., & Nilsson, T. (2019). Assessing autism in females: The importance of a sex-specific comparison. Psychiatry Research, 282, 1-4. doi:/10.1016/j.psychres.2019.112566.

Ratto, A. B., Kensworthy, L., Yerys, B. E., Bascom, J., Wieckowski, A. T., White, S. W., Wallace, G. L., Pugliese, C., Schultz, R. T., Ollendick, T. H., Scarpa, A., Seese, S., Register-Brown, K., Martin, A., & Anthony, L. G. (2018). What about the girls? Sex-based differences in autistic traits and adaptive skills. Journal of Autism and Developmental Disorders, 48(5), 1698-1711. doi:10.1007/s10803-017-3413-9.