The Female Autism Phenotype Phenomenon

Chloe Retika (Author) and Sonya A. Ashikyan (Mentor)

(In this article, I choose to use “autism” to refer to the clinical diagnosis, and because I wish to avoid associating “disorder” (a stigmatizing word) from the population, I also choose to use ‘identity-first language’ (“autistic person”) to celebrate their unique needs and strengths, as I have been taught to practice.)

Because there are no reliable biomarkers for autism, clinicians rely on observational data, and subjective instruments such as the Diagnostic and Statistical Manual (DSM-5) to provide a diagnosis. Autism is primarily characterized by behavioral issues: social deficits (such as an inability to maintain eye contact), restricted/repetitive behavior (RRB) (such as fixating on  particular topic or physically hitting themselves), and cognitive inflexibility (such as an inability to shift attention from one thing to another). However, each child’s symptoms manifest differently, with varying severity. One characteristic of autism that has been scarcely researched is manifestation differences between biological sexes, with damaging consequences. 

Rosmary Ros-Demarize, a Pediatrics Assistant Professor in the Medical University of South Carolina, highlights that current autism screening instruments are predisposed to address typical male RRBs and associated symptoms (Ros-Demarize et al., 2020). For example, the Social Communication Questionnaire (SCQ) gives an example of object obsession with “the wheels of a car” and unusual interests with “dinosaurs”, both of which are predominantly male, and not female, interests (Ros-Demarize et al., 2020). Although a small nuance, this subtlety speaks to the decades of autism research that focused on predominantly male patients, disregarding sex differences within the population. 

Autism statistically has a male dominant prevalence in a ratio of 4:1 (Harrop et al., 2015). However, this may not be because males are more “prone” to autism, but rather because females may be “concealed” from diagnosis. Autistic females may experience a “protective” masking effect that camouflages them from a diagnostic radar, and express symptoms that are not addressed in current male-based autism diagnosis criteria (Hull et al., 2020). This phenomenon is known as the Female Autism Phenotype, and not enough research has been performed to appropriately incorporate it into diagnostic instruments. This is a true concern, which can lead to misdiagnosis, or no diagnosis at all. With no diagnosis, autistic females do not receive the early interventions and support strategies they need to lead the best quality of life possible.

Michelle Dean, a faculty member in UCLA’s Center for Autism Research and Treatment, and colleagues observed a critical difference between male and female peer relationships involving typically-developing (TD) children and autistic children. Their study was the first to examine how gender influences social relationships of children with autism in an elementary school setting. By using the Friendships Survey (Cairns & Cairns, 1994), they were able to aggregate social preference, acceptance, and connections along with the frequency of peer rejection from 50 elementary-school aged TD children matched with 50 autistic children. This study found that both TD and autistic children preferred friends of the same sex, which carries certain repercussions (Dean et al., 2014). Female social relationships regularly demand the ability to interpret subtleties, socialize at a higher level, and are more language-dependent as a whole. On the other hand, young male relationships center more around “competitive play” and are not as socially demanding (Dean et al., 2014). Because children prefer to befriend peers of the same sex, gender clearly plays an important factor in social success and salience. Verbal deficits that accompany autism more severely impact females than males because of the inherent nature of their peer relationships (Dean et al., 2014). In addition, this study also found that autistic males were significantly more likely to be outright excluded and “non-preferred”, while autistic females were ignored and overlooked (they were not granted full access to the social benefit of being female, although their sex typically have broader social networks than males). To an instructor or clinician, male social rejection is much easier to detect than the more passive female exclusion in the autism population. An autistic female child may seem to be socially successful in her peer group, when in reality she needs additional help and assistance from educators and practitioners. This nuance must be incorporated into social skill interventions to address the unique social needs of autistic females. 

In another study, Ros-Demarize et al. acknowledge that girls face more societal pressures compared to boys even at comparable age or grade levels (Ros-Demarize et al., 2020). This study found that in autistic children populations, parents expressed more concern towards their female preschoolers compared to their male preschoolers in terms of social communication (SC) deficits, even if standardized instruments (ADOS-2) quantitatively reported equal deficit severity between both groups (Ros-Demarize et al., 2020). Researchers conclude that parents recognize as their female child grows older, they will be faced with more difficult peer interactions and societal pressure than their male counterparts, which requires them to have heightened social communication skills (Ros-Demarize et al., 2020). This unique demand must be kept in mind when developing social skill interventions to mitigate weaknesses and deficits that accompany autism, especially when treating and supporting females.

References

Cairns, R., & Cairns, B. (1994). Lifelines and risks: Pathways of youth in our time. New York: Cambridge University Press.

Dean, M., Kasari, C., Shih, W., Frankel, F., Whitney, R., Landa, R., Lord, C., Orlich, F., King, B. and Harwood, R. (2014). The peer relationships of girls with ASD at school: comparison to boys and girls with and without ASD. Journal of Child Psychology and Psychiatry, 55, 1218-1225. 

Harrop, C., Shire, S., Gulsrud, A. et al. (2015). Does gender influence core deficits in ASD? An investigation into social-communication and play of girls and boys with ASD. Review Journal of Autism and Developmental Disorder, 45, 766–777. 

Hull, L., Petrides, K.V. & Mandy, W. (2020). The female autism phenotype and camouflaging: a narrative review. s, 7, 306–317. 

Ros-Demarize, R., Bradley, C., Kanne, S.M., Warren, Z., Boan, A., Lajonchere, C., Park, J. and Carpenter, L.A. (2020). ASD symptoms in toddlers and preschoolers: An examination of sex differences. Autism Research, 13, 157-166.