I know more autistic men than women! I heard one of these days. I also know a lot of other things in greater numbers and that's not why they are at a higher prevalence either! replied.
Still, men are more likely to be diagnosed with autism than women, with recent studies reporting a male-to-female ratio between 3.5:1 and 4.2:1. And be careful when reading that sentence, because I'm not saying that there are more autistic men than women. But rather, that men are more likely to be diagnosed with autism.
And as such we all need to think about why this susceptibility and apparent bias towards diagnosis of Autism Spectrum Disorder in males!
First of all I think about the question: Is autism different in its expression in men compared to women? The answer is yes! And so the second question arises: why is there still this bias? That is, are the Autism Spectrum Disorder assessment tools not adapted to screen for the characteristics of autism in males as well as females?
Neurobiological and environmental explanations are suggested to explain this phenomenon: (a) genetic influences, such as a lower mutational loading threshold and higher gene expression in males; (b) the underrepresentation of women in research and clinical practice that has led to the development of diagnostic criteria and assessment measures based on a 'male' presentation ; (c) the suggestion that women present with a different autism phenotype compared to men; and (d) the female protective effect theory that proposes that women require more familial risk factors to develop autistic traits.
Empirical studies in this area have also explored the gender characteristics of autism, and suggested that women who have greater deficits in social functioning, more behavioural problems and a lower cognitive profile are more likely to meet diagnostic criteria. That is, girls and women who are autistic and do not have an Intellectual and Developmental Disability appear to have a smaller set of repetitive and stereotyped behaviours, but more sensory issues and fewer difficulties in language skills than boys and men. Whereas girls and women who present with an Intellectual and Developmental Difficulty, present with more social difficulties, more repetitive and stereotypical behaviours and with less language skills, as well as motor problems and that this seems to bring them closer to what is the autism spectrum profile in the representation of many people and some health professionals. And consequently, women are less likely to receive an autism diagnosis than men if they have fewer behavioural difficulties and/or have an average or higher cognitive profile. Furthermore, this underrepresentation of women being diagnosed is not limited to autism, and has also been reported for other neurodevelopmental conditions such as ADHD.
Standardised assessment measures such as the behavioural observation instrument, the ADOS-2, and the Autism Diagnostic Interview - Revised, the ADI-R are used by many health professionals to aid the diagnostic process in Autism Spectrum Disorder. These measures, however, have been validated with predominantly male samples, and therefore may have limited sensitivity for autistic women. More recently, screening instruments have been developed that, which may aid in diagnosis and case formulation in women, but have not yet been independently validated. In other words, attention is drawn to the fact that these instruments reported below are used for screening and are furthermore not yet validated.
One example is the Questionnaire for Autism Spectrum Conditions (Q-ASC) which is a 38-item measure to be completed by parents/informants that includes the questions that may be more clinically relevant for women, such as sexual behaviour, sensory sensitivity, social masking, and imitation. Another example is the Camouflaging Autistic Traits Questionnaire (CAT-Q) which is a 25-item self-report measure with items related to compensation and masking strategies used to suppress autistic characteristics during social interactions.
And why do these two proposed instruments present questions more related to social camouflage and the ability to establish social interaction? And how might these and other features bring greater challenges to health professionals working in this area? What would they expect to observe in a girl/woman with a suspected diagnosis of Autism Spectrum Disorder?
The way women present themselves to health professionals during an assessment can further complicate the identification of autistic behaviours. It has been reported that women may be more likely to engage in camouflage or masking in an effort to conform to societal expectations or to engage with others. Interviews conducted with women who were diagnosed later in life revealed that masking was such an ingrained part of their personality that they were on 'autopilot' during their autism assessment, making it more difficult for health professionals to identify the traits that may have contributed to this diagnosis. And as a consequence, many of them were misdiagnosed or told that they did not have or did not meet criteria for a diagnosis of Autism Spectrum Disorder.
But then, and what can be done to change this situation? When we talk to health professionals working in this area, we keep noticing that some of them continue to make the assessment in a very similar way whether it is a man or a woman. And furthermore, we also realise that the training that health professionals who come to work in this area also receive does not reflect the differences in the phenotype of the behavioural expression of autism in females compared to males.
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