Underidentification of Autism Spectrum Disorder in Females: A Case Series Illustrating the Unique Presentation of this Disorder in Young Women

Autism spectrum disorder (ASD) is diagnosed more often in males than females, with the male-to-female gender ratio reported to be around 4.3:1 to 5:1. It is possible that the underrecognition of ASD in females partially contributes to this uneven ratio. Recent attention has been placed on understanding the processes that give rise to this gender difference in ASD prevalence. Socialization may contribute to the unique presentation of ASD in females, which may underlie this condition’s subsequent underidentification in this group.

The purpose of this case series is to demonstrate how symptoms of ASD may uniquely manifest in females without co-occurring intellectual impairment.

An examination of three case examples of young women diagnosed with ASD will illustrate the processes that contribute to the atypical manifestation and underidentification of ASD in females.

Across cases, the females in this study demonstrated shared symptom presentations within three domains: 1) unique core symptom manifestation (insistence on sameness, lack of social engagement, and social processing difficulties); 2) heightened psychiatric comorbidities with internalizing disorders (anxiety, depression, and borderline personality traits); and 3) emotional dysregulation. These three domains reflect specific processes that may help to explain the underidentification of ASD in females via diagnostic overshadowing.

Consideration of atypical symptom presentations, heightened comorbidities, and emotion regulation difficulties may help with the understanding of why ASD symptoms in females are commonly underidentified or identified later than they are in males. Social difficulties in combination with internalizing psychiatric disorders and emotional dysregulation may lead to the development of a specific symptom presentation in females that obscures the detection of ASD symptoms. Suggestions for clinical practice are made to promote the accurate identification of ASD and to inform case formulation and treatment planning.