The female autism phenotype: Typical versus non-typical ASD in girls and women

Why is it that females tend to stay under the radar, or are even not considered at all, when certain mental health conditions are concerned? For example, they are diagnosed with both Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) much less frequently than males. One possible explanation is that females tend to be better at camouflaging their symptoms and try harder to be part of their peer group. This camouflage strategy is also seen in females with high cognitive ability, who would rather give incorrect answers in tests in order to get average grades so that they fit in with their peer group. They gladly trade their identity for belonging.

“Is something similar happening with ADHD and autism, or is their prevalence lower in females?”

Female-specific research has only begun intensifying in recent years, so there is still much more we do not know than that we do. It certainly does not help that the diagnostic criteria for both ADHD and autism are based on primarily male data (i.e. the studies that provided background data for developing diagnostic criteria used mostly male participants) and may not at all be suitable for diagnosing females. Think of the issue of new medications being tested primarily on healthy, young males. Professionals have only in recent years begun to realise that certain medicines found effective for treating males are not suitable for females. Consider also the recent finding that treatment of cardiovascular disorders is very different for both genders. Similarly, the diagnosis and treatment of autism is likely to differ between males and females.

Indeed, we know that many of those females who do receive a clinical ASD diagnosis were initially referred for depression or anxiety, not for an ASD diagnostic procedure. We also know that many diagnosed females received a diagnosis because their symptoms were so severe they could not hide it (like females like to do) and it was impacting on their lives to the extent they just could not function. Often, one of the reasons for their symptom severity was a co-occurring learning disability or low cognitive level. And finally, we know that with male-biased diagnostics being used for ASD, females with masculine ASD symptoms are more likely to be identified.

“So, it appears that females who are identified as having ASD are either impacted very severely by it, or have male symptoms.”

It seems to me there is a continuum of autism severity in females, and only the small number of females at the upper end, those whose symptoms are very intrusive, are being identified. When studying ASD, we often distinguish between Typically Developing (TD) and ASD groups, of men and of women. Within the ASD spectrum, I would like to propose a distinction between typical female ASD and non-typical female ASD. Those individuals who are severely impacted by their ASD, to the extent that they are identified where most females with ASD are not, fall in the non-typical category. Those individuals who have the characteristics of the female ASD phenotype but are able to mask it and for various other reasons do not receive a diagnosis, fall in the typical ASD category. This would mean the vast majority of females, those with typical ASD, are not picked up at all. Indeed, some recent studies show that large numbers of females with undiagnosed autism may be going through the education system. Due to this lack of identification, they do not receive appropriate support, leading to social isolation, lower grades, loneliness, confusion, depression, and less future opportunities.”

“What about those many females who are not identified, what do we know about them? Well, nothing actually.”

Since they have not been identified and therefore have not been included in any scientific study; we unfortunately have no knowledge whatsoever on these females. We do know a little about diagnosed females. However, they have only been included in research in the past decade or so, and always in very small numbers, hence it is difficult to draw solid conclusions. But there certainly have been some interesting findings on these females. For example, diagnosed females show many similarities to males in terms of their need for structure, visual as opposed to verbal strategies, and low arousal environments. We also know females face the same academic struggles but are not as vocal as males: they do not like to ask for help, and will try to hide their difficulties. Indeed, females tend to ‘suffer in silence’ and pretend they are just a typical girl or woman. By doing so, females disappear into the mix of students. The limited information gathered from academic studies as well as from practice shows that females in comparison to males are better able to integrate verbal and non-verbal behaviours, maintain reciprocal conversation and initiate friendships, but not maintain these friendships. They generally present with less typically autistic (read: ‘male’) traits, considerably less and different restricted interests, less co-occurring conditions, and experience less problems at school. On the other hand, females have been found to show more sensory symptoms, greater impairments in empathic behaviour as toddlers, and more extensive social deficits overall, although some studies have also found higher self-reported and teacher-reported social functioning. This leads us to believe that the willingness or ability to maintain social ties may be differentially affected among females with ASD. For example, they tend to be better able to follow social actions by delayed imitation than their male peers. In childhood, they observe other children, are often led by them, and copy them, which again camouflages their symptoms. But females with diagnosed autism are also more socially aware than males and feel a need to interact socially.

“So, if even those females who are diagnosed with ASD are well able to mask their symptoms and hide the severity of their condition, what hope is there for all those with typical ASD?”

Well, we need large samples of females to participate in studies aiming to elucidate the female ASD phenotype. We need to look at females who have been tested for ASD and were found not to be below threshold for diagnosis, and examine their characteristics. We know what typical male ASD looks like, all we have to do is look at the DSM-V criteria. Now, we need to find out what typical female ASD looks like. This is exciting, because we need to work top-down. We already have some information on females with non-typical ASD, as they have been diagnosed and included in studies, and we also have information on typically developed females. Using the information we already have, and investigating large samples of females, we should work towards a female autism phenotype. And in the future, gender norming in diagnostic criteria. After all, I think we all agree women and men are quite different. Also women and men with ASD.


Relevant literature

Dworzynski, K., Ronald, A., Bolton, P., & Happé, F. (2012). How different are girls and boys above and below the diagnostic threshold for autism spectrum disorders? J Am Acad Child Psy, 51, 788-797.

Gould, J., & Ashton-Smith, J. (2011). Missed diagnosis or misdiagnosis? Girls and women on the autism spectrum. Good Autism Practise, 12, 34-41.

Mosca, L., Barrett-Connor, E., & Kass Wenger, N. (2011). Sex/Gender differences in cardiovascular disease prevention: What a difference a decade makes. Circulation, 124, 2145-2154.

Reis, S.M. (1998). Work left undone: Choices & compromises of talented females. Mansfield, CT: Creative Learning Press.

Kopp, S., & Gillberg, C. (2011). The Autism Spectrum Screening Questionnaire (ASSQ)-Revised Extended Version (ASSQ-REV): An instrument for better capturing the autism phenotype in girls? A preliminary study involving 191 clinical cases and community controls. Res Dev Disabil, 32, 2875-2888.

Halladay, A.K., Bishop, S., Constantino, J.N., Daniels, A.M., Koenig, K., Palmer, K. et al. (2015). Sex and gender differences in autism spectrum disorder: Summarizing evidence gaps and identifying emerging areas of priority. Molecular Autism, 6: 36.


NOTE: Image by Camp ASCCA, licenced under CC BY 2.0.

Francien is a a PhD student/lecturer who has a combined background of both clinical practice and academic research. As a mother-of-four; children are her passion, and her research focuses on neurodevelopmental conditions in children, with a specific interest in ADHD and autism. Francien is particularly devoted to addressing the lack of female specific research in psychology.

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  • Trudy Dehue February 22, 2016'

    Dear colleague, dear Francien,

    Back in the seventies and eighties I worked in a child psychiatric clinic and sometimes a child diagnosed with autism was brought in.
    With these children, it was very obvious that there had serious and probably neurological problems. Ever since, however, the diagnostic criteria began to broaden and broaden. Increasing number of children got the diagnosis and that constitutes a true individual and social

    And now there is even ‘hidden autism’? What van that be? If one can hide one’s autism it is justified to say one does not have autism.

    Stated differently, who sets the standards for what should count as a disorder if it is not the DSM? One either meets the criteria for a diagnosis in the DSM or one does not, I would argue. Research like this changes the very definition of autism, but without saying so. It acts as if nature can ever define what should count as a disorder.

    If some one suffers form ‘social isolation, lower grades, loneliness, confusion, depression, and less future opportunities’ (which quite some people do) he or she can be helped in various ways. Giving them a diagnosis that sticks with them for ever is not neutral and has many disadvantages.

    Best wishes, Trudy Dehue
    I do not doubt the good intentions of this kind of research but I do doubt its beneficial effects.

  • --------- March 4, 2016'

    Dear Francine Kok,

    What you wrote sums up the literature about ASD in girls pretty well. However, as I see it, a critical analysis leads to only one conclusion: girls cannot have autism.

    As of right now, there is no biomarker that defines autism, that can distinguish NTs from ASDs with accuracy. ASD is a behavioral description only. Clearly, girls with ASD do not meet this description.

    -You say ”one possible explanation is that females [with ADHD or ASD] tend to be better at camouflaging their symptoms” … why is that in the first place? Girls with ADHD can stop being hyperactive when told to do so, but boys cannot (citation forgotten, sadly). Keeping in mind that girls can camouflage their (behavioral) disorder means that there is no disorder. I encounter this claim quite often. Such as Quinn (2005): ”Good grades and satisfactory teacher reports (…) cannot rule out ADHD in girls” and ”girls are more likely to be daydreaming, staring out the window, twisting their hair.” Those are revealing, as 50% of referrals for ADHD are from teachers, and ”staring out the window” does not equate hyperactivity.

    -”…and try harder to be part of their peer group. They gladly trade their identity for belonging.” That is not autism, as autism entails an extremely low social motivation (Chevallier, Kohls, Troiani, Brodkin, & Schultz, 2012). Moreover, people with autism do exactly the opposite, they keep their identity (and unconventional hobbies and tastes) while show no motivation to belong.

    -”the diagnostic criteria for both ADHD and autism are based on primarily male data and may not at all be suitable for diagnosing females.” Disorders are socially constructed categories based on similar patterns of observable behavior. Autism is its definition, not anything else. If male data led to autism, then it is a male disorder.

    -”[girls show] greater impairments in empathic behaviour as toddlers”, I do not know what this refers to specifically but I do know that while both boys and girls with ASD are impaired in peer play, only boys show a much more severe deficit in pretense play. That is extremely meaningful, as pretense play needs a theory of mind to imagine what the other person is imagining (Knickmeyer, Wheelwright, & Baron-Cohen, 2008).

    There is increasing literature on girls with ADHD and ASD and I doubt the scientific validity of that trend. You can’t say that girls with AD-hyperactive-D are not hyperactive… because then they just don’t have ADHD. Similarly, you can’t say that girls with autism have social motivation (and less RRBIs)… because then it’s not autism. Many researchers and clinicians talk about male disorders in female but make major tweaks to definitions. Disorders are behavioral descriptions! Unless you say something like ”Gene CS-92 leads to X in males and Z in females”, you cannot logically claim that behavior X is the same than behavior Z.

    I am also questioning the need for a female specific autism. On average, girls with autism are as social as normal males, even slightly higher (although non-significantly) (Head, McGillivray, & Stokes, 2014). This trend is coming pretty close to the ”you-don’t-even-know-you’re-suffering-but-you-have-a-mental-disorder.”

    Please do not take it as a personal attack, as like I said, what you wrote sums the literature perfectly. But the literature has a few problems in my opinion, and is on shaky grounds.

  • Francien Kok March 8, 2016  

    Dear colleagues, many thanks for the above, very relevant, comments. I take these in my stride and I am pleased with an open discussion on this topic, as something is needed to drastically change the way we look at psychiatric issues in females.

    I sympathize with Trudy’s comment on overdiagnosing boys with ASD. Indeed, prevalence has increased by 6-15 percent each year from 2002 to 2010 ( .and in that context a life-long label is unnecessary and possibly harmful. However in girls this condition is under-diagnosed, and girls and women are suffering unnecessarily. For those girls and women, a diagnosis would be a gateway to understanding and help.

    In respect of the male-based diagnostic criteria for ASD, please be aware that although the gender gap is very large in children, it is much more narrow in adults; with some recent studies showing a comparable prevalence rate in adult women and men. There is further evidence that females receive a diagnosis much later than males (i.e. Begeer et al., 2012) and that, when females have similarly severe ASD traits to males, they tend not to receive a diagnosis (Dworzynski, 2011). For example, girls who meet DSM-V criteria for ASD are 8.4 times more likely to have problems such as hyperactivity and lower cognitive ability than girls who have other autistic traits. In boys, this difference is not seen. Moreover, evidence for a distinct female phenotype is mounting (i.e. Kirkoski, 2013), even though research is still in its infancy. I personally hope that we will not continue to disregard such evidence, and that gender norming will be initiated in the ASD diagnostic process. The fact that DSM-V criteria are based on mostly male data is a serious limitation of these criteria. It is also stated in the DSM-IV that the presentation of ASD may be different in females. Rather than addressing this limitation we can indeed simply say that ASD is a male disorder. But I feel that this would be disregarding evidence to the contrary, and a disservice tot hose girls and women who are now suffering in silence and may not get the support they need until they are much older. Support that is much more effective when given at a young age.
    I personally agree with the statement that a girl, who is very tall for a girl, may not look that tall if measured with the boys’ growth chart. Similarly, a girl who scores very high for a girl on ASD traits may not look that impaired when compared to a boy with ASD. But she is still scoring extremely high compared to the rest of the girl population*. We are seeing more and more women speaking out how their ASD diagnosis was a relief and how finally everything fell into place for them**. If the female phenotype was accepted, and taken into account in the diagnostic process, these women would get the help they need at the age they needed it most. To address the second comment on my initial post; “This trend is coming pretty close to the ”you-don’t-even-know-you’re-suffering-but-you-have-a-mental-disorder.””; these women knew they were suffering, but they did not know why.

    *Dr. Constantino, Professor of Psychiatry and Pediatrics at Washington University in St. Louis

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