Reframing Autism and Understanding the Female Autism Phenotype

Article from: Counselling Australia Journal: Volume 22: Number 3 – Spring 2021

By Dr Jillian Stansfield

The Diagnostic and statistical manual of mental disorders (DSM-5), published in 2013, refers to autism spectrum disorder (ASD) as an umbrella term and is based on a deficit medical model. The DSM-5 diagnosis of ASD includes the previously separated diagnoses Asperger’s syndrome, Rhett syndrome, pervasive developmental disorder and pervasive developmental disorder not otherwise specified (PDD-NOS), and focuses on traits most often associated with males. The criteria to be met for an ASD diagnosis under the DSM-5 are persistent deficits in social communication and social interaction across multiple contexts, as manifested by the following: socialemotional reciprocity; non-verbal communicative behaviours; and developing, maintaining and understanding relationships (APA, 2013). These symptoms are present from early childhood and limit or impair everyday functioning (APA, 2013). A diagnosis of ASD is also assigned a severity specifier of level 1, 2 or 3, depending on the support required. Therefore, the terms ‘high-functioning’ and ‘lowfunctioning’ are redundant and are not included in either of the diagnostic manuals DSM-5 or International Classification of Diseases (ICD-11) (World Health Organization, 2018). As there is no definitive biological test for determining autism, a process is followed that relies on multiple sources of information, including tests and observations to assist medical professionals with making a diagnosis (APA, 2013).

Diagnoses of females are predicated on the same narrow ASD criteria, which is geared towards the male presentation of autism and is one reason why girls may not receive an autism diagnosis, also referred to as a ‘missed diagnosis’ (Fields, 2020; Stansfield, 2020). A ‘misdiagnosis’ can occur when someone is diagnosed with a mental disorder based on a cluster of traits that overlap with autism. The lack of understanding and research about the female-typical presentation or female autism phenotype is reflected in the disparity of diagnoses between males and females, a ratio of 4:1 (Hull et al., 2020).

However, the use of one term, ‘autism’, has resulted in confusion about where people diagnosed under the range of autistic-like conditions should be placed along the autism spectrum (Bennett & Goodall, 2016). This is particularly problematic when individuals are overlooked or misdiagnosed, particularly females, or when the preconceived view is that the overarching diagnostic term is ‘Kanner-type’ or ‘classic’ autism traits. The words ‘disability’ and ‘disorder’, both of which are used in social discourse, indicate a deficit in ability or that something is wrong. However, some autism deficits could be viewed as strengths or advantages (Goodall, 2015). There is an inconsistency in language about and definitions of autism (Cleaton & Kirby, 2018).

Instead of being considered a disability or disorder, as the formal terms suggest, autism is regarded by some as more of a neurological difference (Goodall, 2015). Throughout this paper, the terms ‘autistic’ and ‘on the autism spectrum’ are preferred when referring to a person diagnosed with an autism spectrum disorder. Neither a ‘person-first’ nor an ‘autism-first’ approach is used because some people in the autism community prefer one term over the other and it is essential for the terms adopted to respect the autistic community (Kenny et al., 2015).

History of autism

The history of autism is confronting, with an evolving line of thought that includes many misconceptions and perspectives: from perceptions that people on the autism spectrum have ‘refrigerator mothers’, to people being labelled as ‘rain man’ or as having an ‘extreme male brain’ (Silberman, 2015). Due to the pathologising of traits and to stigma, today’s knowledge and understanding of autism is still in its infancy and it appears people are some way off from understanding and accepting this different way of thinking (Stansfield, 2020).

Child psychiatrist Leo Kanner identified the ‘classic’ model of autism towards the middle half of the last century (Kanner, 1943, 1944; Silberman, 2015; Singer, 2017). Kanner used the term ‘autism’ from the Greek word for self (autos) to describe this cluster of traits, as these children “seemed happiest in isolation” (Silberman, 2015, p. 5).

At the same time, Asperger’s syndrome, commonly known as Asperger’s, was first identified by Dr Hans Asperger, who noted some similar characteristics among children in his paediatric practice (Attwood, 2004; Silberman, 2015). Although Asperger referred to his patients as “little professors” due to their abilities in math and science (Silberman, 2015, p. 6), this more positive aspect of his work is tainted by his link to the Nazi era: he is said to have been among the doctors who had the power to decide the fate of children who did not meet certain physical and mental abilities (Sheffer, 2018; Szalai, 2018). Although the origin of autism and the term ‘Asperger’s syndrome’ are tainted by this unsavoury narrative, Asperger’s work was the starting point for discourse on autism (Stansfield, 2020).

When Lorna Wing, a psychiatrist, had a daughter who was diagnosed with Kanner’s classic autism in the 1960s, it was almost unheard of for a female to receive an autism diagnosis. Following the realisation that her daughter had autism, Wing made it her quest to seek out the supports available to families of children like her own (Silberman, 2015). Wing (1981) found that many children did not fit the mould of Kanner’s rigid traits and set out to expand the definition of autism, proposing that it was a ‘continuum’ and later adopting the term ‘spectrum’ (Silberman, 2015, p. 353). Despite Wing’s work, several decades later the connection between autism and girls remains relatively undiscovered and far more is known about autism in males (Tomlinson et al., 2020).

Background of autism spectrum disorder

The DSM-5 is becoming a somewhat outdated source for determining a diagnosis, and controversy surrounds the umbrella term ‘autism spectrum disorder’ in the last update. One point of contention is the use of the word ‘disorder’, because autism is becoming more accepted, particularly in the autistic community, as a neurotype or condition rather than as a mental disorder (Stansfield, 2020). The view that autism is a disorder that can be cured is reflective of the medical model approach, and lags behind anecdotal and clinical observations of the female autism phenotype (Marshall, 2014). No specific changes appear to have been made to DSM-5 diagnostic criteria to reflect this in the foreseeable future.

Silberman (2015) posed the question, “[A]fter 70 years of research on autism, why do we still seem to know so little about it?” (p. 15). People on the autism spectrum are beginning to demonstrate that ‘‘‘neurotypical’ is not the only way to be, or even the best way to be” (Singer, 2017, p. 1195). Over time, autism has become recognised more as a neurotype (neurological type) that differs from a ‘neurotypical’ brain, which is a dominant neurotype, and which Singer observes is “a term coined to sideline [people, like] the word ‘normal’” (2017, p. 404). Neither one is better or worse than the other; the neurotypical brain is “designed to facilitate socialisation” and the autistic brain is designed “to focus on understanding the world around us” (Castellon, 2020, p. 31).

The cluster of deficit-based traits for ASD identified in the DSM-5 are oriented toward males (Ranson & Byrne, 2014), leaving girls undiagnosed or misdiagnosed when their collective autistic traits are misinterpreted and categorised as a mental illness rather than as autism (Carpenter et al., 2019). According to the traditional definition of autism, identified as a male syndrome, the number of children diagnosed with ASD has risen over the last decade (Sproston et al., 2017). The higher rate of diagnoses does not mean the number of people who have been born with the condition has risen; rather, it is illustrative of a better understanding of autism due to ongoing research, education and awareness (Carpenter, 2017). Further research on girls and autism is likely to see the number of female diagnoses increase, shrinking the gap between males and females.

The lack of knowledge about girls and autism due to a dearth of research leaves many girls unsupported, misdiagnosed and misunderstood, even though they may receive a diagnosis as an adult (Carpenter et al., 2019; Cook et al., 2017; Mademtzi et al., 2017). The later diagnoses of women may be one reason why ASD is, according to statistics, diagnosed four times more often in males than in females. Other reasons include ASD presenting differently in males (APA, 2013; Mademtzi et al., 2017; Moyse & Porter, 2015) and diagnostic tools derived from the DSM-5 being skewed towards male traits and characteristics of autism (Ranson & Byrne, 2014). A further reason frequently cited for missed or late diagnoses in females is their ability to mask traits associated with autism (Cook et al., 2017; Ranson & Byrne, 2014). Females are better at masking or camouflaging their symptoms through strategies such as mimicking and scripting (Myles et al., 2019). Due to being able to mask their inadequacies and mimic others, females on the autism spectrum are perceived as ‘normal’, with the result that many autistic girls ‘fly under the radar’ and suffer in silence during their primary years (Attwood, 2006).

Social model and medical model of disability

The medical model versus social model debate is frequently highlighted in the literature on autism (Alsharif, 2019; Liu et al., 2018; Manago et al., 2017; Pickard, 2019; Singer, 2017) and is included in this overview to acknowledge how far our thinking has come in terms of what autism is or is not and how it presents in everyday life. The medical model, with a deficit focus on ASD according to the DSM-5, insinuates a stigma associated with the term ‘disorder’: that it is something ‘wrong’ that requires ‘fixing’, even when the perceived negatives could be strengths or unique abilities (Angulo-Jiménez & DeThorne, 2019).

The social model proposes more than one perspective, but essentially asserts that autism is a social construct whereby society determines what is a disability and ability and how they are approached (Mitra, 2006).

The social and medical models are in opposition to one another – the latter focuses purely on disability, whereas the social model draws attention to autism as a spectrum and showcases abilities. Although the social model exposes the social inequalities encountered by people on the autism spectrum, it acknowledges that it is not the person with the disability who needs to change, but society that needs to change its perspectives on autism (Shakespeare & Watson, 2002).

The neurodiversity paradigm for understanding autism is sometimes considered an ‘outgrowth’ of the social model in that it acknowledges the need for support (Angulo-Jiménez & DeThorne, 2019, p. 570).

Disassociating autism from the notion of being a mental disorder and moving towards a more holistic view of how it manifests in the real world means that the strengths inherent in this different way of thinking are not ignored. A different way of thinking simply means autistic people will learn about the world in a different way (Sherratt, 2005).

What the medical model identifies as deficits, the social model may identify as strengths. Focusing on a social model, whereby autism is identified as a neurology, will enable a better understanding of autism in females, not only in a schooling context, but also in the medical milieu where diagnosis takes place. This holistic view of autistic strengths and challenges, rather than just deficits, will allow for better understanding and earlier identification of females on the autism spectrum.

Mediation is needed between the social and medical models to reframe how society views disability, reduce stigma and promote acceptance. One model that is emerging from this binary view is the neurodiversity paradigm, which stems from the social model (den Houting, 2019). Singer (2017) is credited with coining the term ‘neurodiversity’, and did so in the belief that “we need to go beyond the dichotomy of the medical model vs. social model” (p. 615).

Given the history of autism, the medical and social models, people’s lived experiences and the adoption of the term ‘neurodiversity’ within autism discourse, Silberman’s (2015) modern view of autism as a “different operating system” is a favourable one (p. 471). The neurodiversity paradigm began to emerge in the late 1990s (Angulo-Jiménez & Dethorne, 2019; Silberman, 2015) to explain the concept that there is not just one type of ‘normal’ brain.

Identifying the female autism phenotype

As girls on the autism spectrum grow older, they are more likely to be misdiagnosed with mental health issues (Myles et al., 2019). Misdiagnosis can have devastating long-term effects, as undiagnosed females may be medicated, develop limited survival strategies and are often left to navigate a challenging world as ‘misunderstood’ individuals, leading to a plethora of problems in their adulthood (Holliday Willey, 2012). Teachers are often the first to recognise when a student may need a referral to a specialist health professional so that these students receive the appropriate support and intervention in the early years.

As autistic females are underrepresented in the research, ‘female stories’ are often shared to gain insights (Jarman & Rayner, 2015). Jarman and Rayner presented themselves as case studies and shared their personal stories and knowledge of being on the autism spectrum. Temple Grandin’s Asperger’s and girls (2006) and Wenn Lawson’s Girls and autism: Educational, family and personal perspectives (2019) are examples of the autistic voice. They highlight the importance of listening to the voices of autistic females by adding an element of authenticity to the academic discourse. There are also well-known autistic women presented in the media, Greta Thunberg (Swedish environmental activist), Susan Boyle (Scottish singer) and Hannah Gadsby (Australian comedian) who openly share their diagnosis and talents, and challenge ideas of what autism ‘looks like’. Jarman (2013) proposed further case studies on school-aged females on the autism spectrum to enhance understanding and recognise their unique challenges and characteristics. As research often lags behind clinical and anecdotal observations (Marshall, 2015), Jarman’s (2013) work was important for advancing our understanding of the relatively new medical term ASD.

There are many anecdotal and clinical observations on the female profile of autism in the form of checklists and online stories about ‘lived experiences’. These can be a resource for females who have been misdiagnosed, have a missed diagnosis or are seeking answers to explain their differences (Craft, 2016; Marshall, 2016; Starlight and Stories, 2018; The Little Black Duck, 2018). Tania Marshall is an Australian psychologist, specialist and prolific writer on autistic girls and women, who has published numerous books and blogs on the female presentation of autism, including I am Aspien Girl and I am Aspien Woman. Marshall (2019) explored the many traits of girls on the autism spectrum, as well as themes such as masking, anxiety, perfectionism, emotion and high achievement, acknowledging that many of these traits make it difficult to identify and support autistic females.

A communication tool, CASSIE, was recently developed from evidence-based research, and focused on the female autism phenotype in the early years of schooling (5–8 years of age). The CASSIE tool, which is presented in the form of a wheel, can assist with identifying autistic girls in the early years’ classroom and help teachers to better manage girls’ learning and social experiences (Stansfield, 2020). The CASSIE tool further informs the literature about the traits and characteristics that pertain to the female autism phenotype. There is no single way to categorise the traits and characteristics of girls on the autism spectrum, and CASSIE incorporates communication, academic, sensory, social and identity aspects (Stansfield, 2020). Stansfield (2020) found several reasons why girls are ‘invisible’, meaning fewer girls are diagnosed than boys: they have masking traits; they are social, but more so with adults; traits vary between males and females; they are capable but this is not always shown in their work; there are misconceptions that autism is a ‘boy’ condition; and deficits are seen as strengths and vice versa. These reasons support the DSM-5 (2013), which states that females go unrecognised due to “subtler manifestations of social and communication difficulties” (APA, 2013, p. 57).

The development of the CASSIE tool is beneficial not only to teachers and parents, but also to the wider support network. It can help identify autistic females and support them, regardless of whether they are diagnosed (Stansfield, 2020). Ongoing research on the female autism phenotype, such as the contributions of Jarman (2013) and Stansfield (2020), may assist in reducing the number of missed diagnoses or misdiagnoses of autistic females.


There is a continuing need for acceptance of autism in the general community. Sharing knowledge brings about greater understanding, and highlighting the female autism phenotype with a focus on strengths is a positive way of reducing stigma and increasing acceptance. Over time, education will change community perspectives on autism and how it presents in females. People on the autism spectrum are beginning to demonstrate that “‘neurotypical’ is not the only way to be, or even the best way to be” (Singer, 2017, p. 1195). Over time, autism has become more recognised as a neurotype that differs from a neurotypical brain, a dominant neurotype (Singer, 2017). Neither one is better or worse than the other.



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