Friday, August 11, 2023

Do sex differences in autism symptomology explain the sex differences in diagnosis rates?

A recent study finds that, despite the fact that boys are four times more likely to be diagnosed with autism than girls are, there are no major differences in the constellation of symptoms shown by boys vs. girls, with the possible exception of restrictive repetitive behaviors (RRBs).

subsequent meta-analysis revealed only small and statistically non-significant overall effects, suggesting no robust sex differences in any domain examined here, with the possible exception of RRB where features were greater in males. Hence, on the basis of the published empirical literature to date, we conclude that there is currently no substantive evidence of sex differences in reciprocal social interaction and communication, social functioning, cognitive abilities or co-occurring conditions among autistic toddlers and young children, but that females may demonstrate fewer RRBs than males in early childhood.

However, given persistent concerns that there's a gender bias in autism identification that leads to undiagnosed autistic females missing on early interventions, the authors don't leave it at that. Instead, they raise two possibilities.

One is that autistic females are better at masking their social symptoms than autistic males are. Social masking, however, strikes me as (1) hard to measure; (2) something that all of us do, at least to some extent; and (3) something that may reflect social skills rather than social deficits.

Second, the authors propose that there may be a distinctive male "autism phenotype" that doesn't fit the standard criteria. This strikes me as problematic for two reasons:

First, the autism phenotype dates back to the late 1930s to early 1940s and to the clinical observations of Leo Kanner, one of the first child psychologists to identify the autistic condition as a constellation of symptoms. Kanner based this identification on a subset of the children who had been referred to his clinic. This subset, consisting of 8 boys and 3 girls, all shared a similar constellation of symptoms. Based on this shared symptomology, which amounted to a combination of social aloofness and restrictive, repetitive behaviors, Kanner coined the term "autism." 

It's unclear where gender bias would fit in here.

Second, ever since Kanner, autism has been diagnosed based only on symptoms. This means that autism is, essentially, a phenotype. This, in turn, implies that a phenotype that differs from what has long been thought of as the autism phenotype is something other than autism. 

In other words, a distinct autism phenotype for girls seems like a contradiction in terms.

This holds as well, incidentally, for the motor/apraxia disorder that facilitated communication proponents need autism to be. If there is such a condition, it's something other than autism.

One possibility the authors don't consider is that there are gender differences in restrictive interests and that stereotypically male restrictive interests are more likely to be recognized as such than stereotypical female ones are. Think electrical outlets and science fiction vs. horses and fantasy fiction. But while that might explain the gender difference in rates of identified RRBs, it doesn't explain away the gender difference in rates of identified social symptoms.

3 comments:

Anonymous said...

Hi! I've vaguely heard of FC, but don't know much about it. Following is just some speculation based on my own experiences.

I came back to this blog after many years (last I was here, your son was just starting college) because I wanted to link someone to your great descriptions of how, without a curriculum, "left brain types" can miss out. Something my (HFA/AS) husband experienced, and why he wants to use a curriculum if/when we homeschool.

But now we have a child who has apraxia-type issues. She was initially suspected to have autism, but we weren't convinced. She now has a diagnosis of a birth injury making it hard for her to use her arms (explaining the paucity of early standard gestures, even as she invented her own "gestures" like smiling for "yes"), and a childhood-apraxia-of-speech-like condition which may be from the birth injury or may be just genetic (explaining why she has always had very good receptive language but weak expressive language). (For example: She put her ball into her sliding-lid ball drop toy; I asked her, "Where did the ball go?"; she slid the lid to show the ball, then tilted the toy to dump it out.)

We weren't convinced of the autism dx because when her conditions prevented both talking and making gestures, she communicated very well using facial expression, tone of voice in the sounds she made, and eye gaze.

Now, she uses some sign language and some words (though her words are often unclear), and still also relies heavily on facial expression, tone of voice, and eye gaze.

So when you talk about "the motor/apraxia disorder that facilitated communication proponents need autism to be," I both agree with you that it's not autism / shouldn't be diagnosed as autism, and also know from experience that apraxia type problems *can* be misdiagnosed that way.

If someone got that diagnosis and believed it was true, and then observed that their / their child's problems were primarily with motor planning...

Anyway, I shared the above details about my child in hopes that it might be useful info on how an apparently allistic child with apraxia-like issues "actually" acts.

-OSS

Anonymous said...

(It rejected my comment for being "over 4096 characters" even though a character counter told me it was 4084? IDK so I split it into two, here's part 2:)

Semi-OT but some more general, speculative thoughts--

Based on earlier experiences and observations I also believe that many children who weren't on the spectrum and were gifted have also been diagnosed as HFA/AS (also touched on in the book review I link below). And I think that was good for those children (they got academic accommodations they really needed) but bad for autism research, for those with autism generally, and maybe especially, for those who are both autistic and gifted (like my husband). (I do want to add here that allistic GT kids really do need accommodations, they really suffer before they get them, that suffering really can lead to very autistic-looking behaviors...there are no villains here.)

So I can believe that a similar "pocket of misdiagnoses" could be going on with apraxia type issues as well.

See also the very polite comment in Stephan Camarata's book /Late-Talking Children: A Symptom or a Stage?/ on specific language impairment being misdiagnosed as autism spectrum disorder. You may be interested in this review (not by me): https://www.amazon.com/gp/customer-reviews/RE5FIYT1LVNS0/ "ASD has won. Camarata makes it sound like the controversy is still alive, but almost all professionals will now diagnose autism level 2 or 3 if your child doesn't talk and won't comply with testing."

I guess what I'm kinda getting at or thinking of here is, well, language evolves etc. (sorry to be "teaching Grandmother to suck eggs" here, I know you know this as a linguist!). I can imagine a scenario in which some condition that's more common than, I'll call it "traditional autism," starts getting frequently misdiagnosed (or, if we're talking culture/politics, self-diagnosed) as autism and ends up swamping the "traditional autism," changing results of research studies (my daughter was accepted into a research study on autism! we chose not to participate because we weren't sure she really had it and did not want to throw off the study), etc.

-OSS

Katharine Beals said...

Thanks, OSS, for your comments. Really interesting and food for much thought. I'm only now returning to my blog after having been logged out of it for two weeks due to computer issues. What you write about *actual* apraxia minus autism is very much worth including in discussion of over-diagnosis of autism... I hope to write a future post on this eventually!