Transcript
Assistant Professor Clare Harrop Hi, my name’s Clare Harrop, and I’m an Assistant Professor at the University of North Carolina, at Chapel Hill. My programme of research for many years has focused on autistic females, from early in development through to adulthood. The goal of this Explainer Learn is to provide an overview of the current state of play for autistic females. I’m going to cover sex differences in diagnosis of autism, the factors that influence delayed or misdiagnosis, and the current state of research.
In this Explainer, I will mostly focus on sex differences. That is the assigned sex one is given at birth. I will also touch on gender, as this is really important in autism, and influences how males and females are perceived and socialised in the world. But, for the most part, I will be talking about males and females, based on how they were assigned at birth. So, first, it is well known that females are diagnosed with autism at a lower rate to males. This finding has been well-established over many, many years of research, and has held relatively constant, until recently. The first descriptions of autism described autism as “a variant of male intelligence.” Original case reports of autism were all from males, as such females were rarely diagnosed with autism. As this view started to change, the ratio of males and females diagnosed with autism remained high. For many years, females were only diagnosed if they had complex support needs, often, co-occurring intellectual disabilities, or profound language delays.
This male view of autism has certainly continued to cloud Clinician and Teacher views of autism. Boys are still more likely to be referred for an autism evaluation, and one study reported that Clinicians are hesitant, or less confident, in giving an autism diagnosis to females. Parents in another study discussed their child needing to look “more impaired,” and there is a general sense that females have to tick more boxes to receive an autism diagnosis. For many years, the ratio of males to females sat around four-to-one. However, recent estimates have slowly begun to reduce, with the most recent Center for Disease Control estimates in the US reporting 3.6 males to one female. As a result, interest in autistic females has steadily started to increase.
Another consistent finding is that autistic females are diagnosed later than males. Data from both the US and Europe suggest that females are diagnosed 12 to 18 months later than males, and this is often despite very few differences in parent-reported milestones. A later age of diagnosis is particularly true for females without a language delay, potentially suggesting that autism is harder to diagnose when females present with language in the typical range.
Autistic females are also more likely to be considered late diagnosed, receiving their diagnosis later in childhood, or even in adolescence and adulthood. Females are more likely to be misdiagnosed, often experiencing diagnostic overshadowing. This is when a previous diagnosis, or a co-occurring diagnosis, overshadows a Clinician’s judgement, and they are less open to giving an autism diagnosis, explaining challenges and differences through existing diagnoses – diagnosis.
It is important to note that with misdiagnosis and delayed diagnosis comes later support for autistic females, or supports that may not be appropriate. We currently know very little about intervention for autistic females, with only a handful of studies addressing this. But this is an area of great importance, given the fact that autistic females often have poorer outcomes in adulthood, such as employment and mental health. A recent review by Estrin and colleagues identified factors that serve as potential barriers for diagnosis in females. These included compensatory behaviours that females use, parental concerns, perceptions of others, lack of information surrounding autism in females, and Clinician bias. They also cited perceived gendered characteristics, that may influence how people view autism in females. These include behavioural problems, language, relationships, co-occurring diagnoses, and restrictive and repetitive behaviours.
In line with this review, there is increasing evidence that autism may present differently in females, and at different stages across their lifespan. It is possible that these subtle and nuanced differences contribute to delayed and misdiagnosis, as autism for many years was conceptualised from a largely male viewpoint. Prior to diagnosis, early in development, we see very few differences between males and females. This data is mostly based on retrospective parent report. Parents of females later diagnosed with autism report earlier first phrases and words, and the initial concerns of parents vary between males and females, with more language delays reported for males and motor delays for females, which are not a core area of autism.
When focused on children with a diagnosis, females have been found to differ most consistently from males in the area of restricted and repetitive behaviours. Restricted and repetitive behaviours are defined as, “restricted behaviours or interests, repetitive body mannerisms, or insisting on doing things in a specific way.” They are a core characteristic of autism and their presence is required for a diagnosis. Their play also appears more gender typical, more elaborate and playing with toys we typically associate with females. This may contribute to females being overlooked.
In childhood and adolescence, girls often have fewer hand and finger mannerisms, and less repetitive object use. However, they may demonstrate more instances of things such as hair pulling, or certain sensory behaviours and responses. The interests of females have also been more commonly reported to fall along traditional gender lines, such as an interest in dolls, or hobbies more commonly seen in girls. This goes against our traditional male view of interests in autism.
Challenges and social communication interactions are also a core diagnostic feature of autism. Again, research has highlighted the subtle ways autistic males and females differ in their use of language and social relat – and their social relationships. Autistic females are described as more socially motivated, they report closer friendships than males, they play more closely with peers. They are more likely to use gestures than males, have more complex and flowing conversational skills, and spend more time looking at faces when methods such as eye tracking are used.
It is important to note that the differences that we describe between males and females may reflect camouflaging or masking. Camouflaging refers to using compensatory strategies to mitigate day-to-day challenges. This is not unique to autism, but it occurs at higher rates in autism, particularly in females. So, many of these strengths could be learnt behaviours that girls have developed over time, and could have negative downstream effects, such as delaying diagnosis and putting extreme pressure on an individual.
As autistic females grow up, as with autistic males, we see high rates of co-occurring mental health conditions, such as anxiety and depression. Autistic females are also at an increased risk for eating disorders, sleeping problems, and suicidal ideation. Females also experience more social isolation in adolescence and adulthood. This is thought to reflect the changing nature of female friendships from elementary school, with female relationships based more on sharing and trust. Females in adulthood also have difficulty retaining employment, and may experience sexual vulnerability. Female sex thus may be a protective factor in some areas, but a vulnerability factor for other areas.
In a recent paper, Lai and colleagues provided clear examples of how autism presentations may be modulated by sex, and how Clinicians, and also caregivers, may spot these subtle differences. For example, the DSM-5 criteria for social, emotional reciprocity, females may engage in back and forth conversations, but these may appear superficial. Conversations may be more flowing when talking about interests that are particularly interesting for females. In line with this, focused interest may be more gendered, or what we consider neurotypical, based on our historic male view of autism. They may also be more social in nature, again, highlighting nuanced and subtle differences between males and females.
To conclude, as we learn more about the female autism phenotype, these differences between males and females may contribute to delayed or underdiagnosis in females. There is still so much we need to learn about autistic females, such as their developmental trajectories, how being autistic and female impacts key developmental transitions, such as puberty and the transition to adulthood, and what supports autistic female’s need to thrive, and how these may vary from males. As the gap between males and females narrows, from four-to-one in 2016, to 3.6-to-one in 2020, our research and clinical practices must consider the female autism phenotype, as well as gendered expectations for females, that may contribute to their under recognition and phenotypic presentation.