Why the words "every one of us hovers somewhere along the autistic spectrum" are so dangerous

The Guardian, Friday 26th April 2019

Today I offer another post based on a newspaper report, as Greta Thunberg and her autism diagnosis continue to generate debate (see here).

This time around the report (letter) in question (see here) titled "Autism and Asperger’s are useless diagnostic labels" is the focus, and, in my opinion, quite a dangerous quote included in the text: "... every one of us hovers somewhere along the autistic spectrum."

Why is it so dangerous to imply that the general population is just a (hovering) footstep away from autism spectrum you might ask? Well, I don't think anyone would disagree with the idea that the behaviours noted in autism aren't something that's just magically present in those diagnosed. Such behaviours can be seen in various other states or conditions and/or across various different times of life and maturation. The thing that makes the presentation of such behaviours so distinct and worthy of a diagnosis of autism is the frequency and intensity of such behaviours and importantly, the way they significantly impinge on functioning and daily life. In that respect, yes, autistic behaviours are part of the complex and intricate tapestry of life. But the (sustained) frequency and impact of such behaviours distinguish autism from not-autism.

In such a context then, the idea that everyone hovers along the autism spectrum is a misnomer. It conflates the 'autistic behaviours are part of the complex and intricate tapestry of life' idea with the important reasons why an autism diagnosis is given. This is dangerous because it has the potential to belittle a diagnosis of autism and what it means to those in receipt of such a diagnosis; often a diagnosis that as taken months/years to finally receive. Indeed some people have suggested that the claim that 'everyone is on the autism spectrum' is an "absolute sin"...

It's also dangerous because such thinking opens the door to other things like the self-diagnosis of autism. I've talked about self-diagnosis quite a bit on this blog (see here and see here) and how, self-realisation is often an important (nay, crucial) step to getting an autism diagnosis for many. When however such self-realisation turns to self-identification and/or self-diagnosis on the basis of various 'are you autistic?' screens available on the Internet and beyond (see here), the side-stepping of formal assessments can lead to problems. Problems that can include potentially missing important conditions/states that seemingly overlap with autism or the presentation of autistic traits (see here and see here) as well as also skewing some important narratives from those who have been formally diagnosed with an autism spectrum disorder and their experiences.

I know some people disagree with such a position. Some people think that the diagnostic criteria for autism are too stringent, too medically focused, or access to formal assessment/diagnostic services is too restricted and costly. I don't disagree that we need to do more to 'fill a gap' and ensure that those who might fulfil the diagnostic criteria (including the "significantly impinge on functioning and daily life" bit) should have access to the relevant professional assessment services. But that doesn't mean that anyone and everyone can or should just publicly label themselves as autistic in the meantime.

And finally, as we're learning from the evolution of the neurodiversity movement, autism is still very much to be seen as a disability (see here). So another possible implication of the "every one of us hovers somewhere along the autistic spectrum" sentiment is that we are all somehow 'disabled' by our hovering along the autism spectrum. This is frankly a ridiculous suggestion and, continuing the theme of how dangerous such a sentiment is, could have some really serious consequences for the provision of resources and services for those who are genuinely disabled by facets of their autism. Words matter.

----------

What do "Self-Identified Persons With Autism" tweet about?

"This study aims to explore the feasibility of using the Web-based social media platform Twitter to detect psychological and behavioral characteristics of self-identified persons with ASD [autism spectrum disorder]."

That was the study aim described by Yulin Hswen and colleagues [1] demonstrating that everyone's various musings on social media platforms like Twitter are fair game for lots of different people and different uses (see here) including that of research purposes. As if to prove the point, authors also mention that: "This study was considered exempt from ethical review because only publicly available Web-based data collected from the Twitter platform were analyzed."

Researchers reported that "152 self-identified users with ASD and 182 randomly selected control users from March 22, 2012 to July 20, 2017" were the lucky (unsuspecting) participants of their study. Said participants were also chosen "from users who consented on Twitter to disclose their data publicly (ie, no privacy settings were selected by users) and are completely public." Various hashtags were used to identify said users (participants) including the #actuallyautistic tag, as researchers mention how their study was "the first study to identify ASD users through Twitter." Hmmm...

So what did researchers do? They examined the content of tweets. They examined tweets in relation to "the emotions of fear, anxiety, and paranoia" on the basis that previous investigations have "identified these emotions as key differentiating emotions of persons with ASD compared with matched populations without an ASD diagnosis." I'm not too sure that such sweeping generalisations are pertinent to everyone on the autism spectrum but there you go...

That's not all, as we are told that "the presence of OCD-related tweets" was also included for analysis. OCD refers to obsessive compulsive disorder, and the reasoning behind this was "to understand whether these symptoms are present among Twitter users with ASD and whether the presence or absence of digital obsessive-compulsive symptoms could assist in reducing misdiagnoses of ASD." There is the potential for overlap between autism and OCD (see here for example) so this makes sense. A few other parameters were also included for study including what time people tweet at.

Results: people (both autistic / with autism and not autistic) tweet quite a lot. I don't think anyone should be surprised at this (certainly I'm not). Onward: "Users with ASD posted a greater number of tweets compared with control users for all 3 emotions" under investigation. When they added up the total number of tweets from the groups mentioning the words fear, anxiety and paranoia, "Twitter users with ASD posted a higher number of tweets compared with control users."

Also: "Users with ASD posted a higher number of tweets compared with control users for 4 OCD-related keyword categories—fixate,... count,... excessive,.. and concern." That being said, for 8 other 'OCD-related keywords' such as 'obsess' and 'worry' there was no statistical difference between the groups. I'm not exactly sure what the word 'freak' also included in the OCD-related keywords had to do with OCD or anything else. But ho-hum.

So what was the net result of all this? To tell you the truth, I honestly don't know for sure. OK, some people who 'self-identify as autistic' seem to tweet certain words more frequently, but does this actually mean anything? Does the content of their tweets really reflect their emotional or other state? And is there anything like 'an autistic tweet' or 'pattern of tweets'? I'm inclined to say probably not despite the findings reported by Hswen et al. We're some way of from diagnosing autism or anything else by social media content in case you're wondering.

Caveats? Well, lots. The use of 'self-identifying' as a proxy for 'actually diagnosed' and the problems associated with that is a standout issue. Even the authors acknowledge that: "There is a possibility, however, that there are some who might have self-diagnosed themselves as having ASD without a clinical consultation, and we, therefore, cannot verify the clinical diagnosis of ASD in our study population." Er, yeah, this is an issue. And once again I'm going to post some science - peer-reviewed science - on why formal diagnosis trumps self-diagnosis every single time (see here and see here for examples). Also: "Twitter users who self-identify as having ASD may not be representative of the general population of individuals with ASD." Another big yes from me, on the basis that (a) large swathes of the population, whether diagnosed with autism or not, are not all that keen on using social media, and (b) autism is a label that covers a huge amount of heterogeneity in terms of the population it covers, meaning that some people can't access things like Twitter in the same way as others can. It's highly unlikely that one would be able to say that any group of Twitter users are representative of any group in 'the real world' and that includes those diagnosed with autism. I'd even argue that talk about an 'autistic community' on something like Twitter or anything else is a misnomer given the huge heterogeneity in functioning, views and opinions that is present across the autism spectrum (see here).

And since we're on the topic of Twitter data being mined and researched, the paper by Giorgianna Passerello and colleagues [2] continues the theme...

----------

[1] Hswen Y. et al. Using Twitter to Detect Psychological Characteristics of Self-Identified Persons With Autism Spectrum Disorder: A Feasibility Study. JMIR Mhealth Uhealth. 2019 Feb 12;7(2):e12264.

[2] Passerello GL. et al. Using Twitter to assess attitudes to schizophrenia and psychosis. BJPsych Bull. 2019 Feb 20:1-9.

----------

"Ashleigh's vision problems were misdiagnosed as autism"

The quote titling this post - "Ashleigh's vision problems were misdiagnosed as autism" - comes from a TV programme that was picked up by the BBC news website recently.

It continues a theme in recent times showing examples where autism has been seemingly 'misdiagnosed' (see here and see here) at the cost of other recognised medical conditions being present. Such misdiagnoses have many potential implications; not least for the various trends in some quarters to 'self-diagnose' autism or self-identify as autistic without any formal assessment seemingly being undertaken (see here and see here).

So what was the misdiagnosed condition this time around? Well, it's potentially an important one because is covers a topic rather salient to autism: vision and the processing of visual (sensory) information (see here for example). To quote: "After being misdiagnosed with Asperger syndrome, Ashleigh later found out that her behavioural problems actually came from Cerebral Visual Impairment (CVI)." When describing CVI, the key point I get from the descriptive literature is that vision is not just about the eyes but also what the brain does to/with the visual information collected through the eyes.

Aside from the label 'Asperger syndrome' disappearing from diagnostic texts and discussions for various reasons (see here and see here), a quick glance at some of the information on CVI reveals that the potential misdiagnosis of autism when CVI was present is not something entirely new (see here). To quote from the RNIB (Royal National Institute for the Blind) website here in Blighty: "Many of the standard special needs assessments generally fail to identify children with CVI. If anything there is a danger that they may be misdiagnosed as possibly having autistic spectrum condition, due to some of the characteristics being shared. Not being able to maintain eye contact or respond to facial expressions, may be due to poor contrast sensitivity or to the part of the brain that recognises facial expressions being impaired." They don't however discount the idea that CVI and autism can co-occur - "Of course CVI and autism can co-exist" - something that an expert I mentioned this study to confirmed and something noted in the peer-reviewed science literature [1] too. But misdiagnosis is also a potential risk.

I'm not going to say too much more on this topic aside from reiterating an oft-mentioned phrase on this blog: the diagnosis of autism should be a starting point for further investigations and not the finishing line. I appreciate that to many people - individuals and their parents/caregivers - the time and effort spent actually getting and going through assessment and diagnosis of autism feels like it should be the finishing line (see here). But please, don't stop there. Keep questioning and importantly, keep screening, and screening for lots of different things. As per the example of Ashleigh, there may be lots more to see (pardon the pun) and in some cases, potentially novel and important 'intervention' avenues to consider to improve quality of life [2]...

----------

[1] Bosch DG. et al. Cerebral visual impairment, autism, and pancreatitis associated with a 9 Mbp deletion on 10p12. Clin Dysmorphol. 2015 Jan;24(1):34-7.

[2] Bartel T. Mystery solved: Our son's autism and extreme self-injury is genetic and treatable. Am J Med Genet A. 2017 May;173(5):1190-1193.

----------

More welcomed (and interesting) research on pathological demand avoidance (PDA)

Pathological demand avoidance (PDA) [syndrome] is a label that currently occupies an unusual place in psychiatric and developmental circles. Defined by "obsessive non-compliance, distress, and florid challenging and socially inappropriate behaviour", PDA has seemingly found a place (somewhere) on the autism spectrum, but at the time of writing, does not actually occupy any unique position in any of the current systems of diagnostic classification mentioning autism (e.g. DSM, ICD). The National Autistic Society (NAS) here in Blighty talk about PDA in the context of "a behaviour profile within the autistic spectrum" but that's just one description among others.

The rise and rise of the term PDA as a specific diagnosis is firmly rooted (geographically) here in Blighty. This is probably as a result of the first description of PDA emanating from the late Elizabeth Newson during her time at the Early Years Diagnostic Centre (now called the Elizabeth Newson centre). Not everyone however is totally convinced that PDA is an independent syndrome (see here) or indeed, whether it is deserving of its specific and exclusive link with the autism spectrum at the cost of other labels... I'll be touching on that last point again in this post.

After that long introduction, I bring the findings reported by Vincent Egan and colleagues [1] to the blogging table, and some more welcome research in this area. The name of the research game for Egan et al was to adapt the Extreme Demand Avoidance Questionnaire (EDA-Q) "an informant-rating instrument" into a self-report version - the Extreme Demand Avoidance Questionnaire—Adult version (EDA-QA). Two studies are reported on in this context: "In Study 1, we use this measure to examine the relationship between PDA traits, ASD [autism spectrum disorder] traits, and other psychopathology dimensions, in a community sample of adults reporting self-identified psychopathology" and: "The second study examined the EDA-QA in a community sample and measured ASD traits more thoroughly, using the full ASQ." Yes, that's ASQ as in AQ (the Autism Spectrum Quotient) "used to quantify cognitive and behavioural features associated with ASD" and all the baggage that goes with it (see here and see here).

Results: yes, the EDA-QA was "reliable, univariate, and correlated with negative affect, antagonism, disinhibition, psychoticism, and ASQ score." This bearing in mind that the nearly 350 people who took part in study 1 were all self-reporting on the various instruments used, were "recruited from a variety of specialist on-line blogs and community forums focusing on the needs and concerns of persons with ASD" and were described as "a highly educated group." I also note that the words 'self-identifying' were also used extensively during the study write-up, specifically: "29 individuals reporting self-identified ASD also reported having PDA, 44 persons claimed to have PDA alone, and a further 19 self-identified PDA alongside depression or anxiety; separately, 59 persons claimed to have formally diagnosed ASD." Even the authors acknowledge that "self-reported ASD is not without it’s difficulties." No arguments from me there (see here and see here) and others have similar opined.

When it came to study 2 results, we are told that: "A path analysis to fit the data indicated that ASQ and EDA-QA scores were positively related." Irrespective of my various musings on how the ASQ (AQ) is not seemingly 'specific' when it comes to traits being 'linked to autism', this is an encouraging result. But there was more too... "The EDA-QA measure was associated with lower agreeableness, lower emotional stability, and higher scores on the ASQ. The effects were stronger for personality traits than for ASQ scores, suggesting it may be personality that differentiates how ASD traits are expressed, with more emotionally unstable and antagonistic persons with ASD expressing PDA-type qualities." One of the thoughts I had about this finding - 'personality that differentiates how ASD traits are expressed' - is the 'tie up' between the expression of autistic traits in relation to something like borderline personality disorder (BPD) (see here and see here) that has become more frequent in the peer-reviewed science arena recently. Yet more evidence perhaps that 'self-identifying' or 'self-diagnosis' when it comes to autism is not necessarily the most accurate measure?

The authors conclude that their instrument has promise and "could be easily integrated into assessment packages currently used with prisoners, mentally disordered offenders, and homeless people, where PDA may be suspected." Minus any big headlines regarding those particular groups (see here for example), I think examination of PDA in some of those contexts could be rather revealing. The link, for example, between PDA and offending behaviour (see here) in the context that SRED (Self-Report Early Delinquency Scale) scores - indicating "higher overall self-reported delinquency" -  significantly positively correlated with EDA-QA is an intriguing finding. That also AQ scores showed no such association with SRED scores might also suggest that PDA is not as necessarily well suited to an all-encompassing link to autism (autistic traits) as many people might think...

Let's hope that there is more research to come on the topic of PDA.

----------

[1] Egan V. et al. The Measurement of Adult Pathological Demand Avoidance Traits. J Autism Dev Disord. 2018 Aug 23.

----------

Statistically significant group differences in self-reported repetitive movements between diagnosed and self-identifying autism

One needs to remember that, at the time of writing this post, the article posted by Joost Wiskerke and colleagues [1] suggesting that "camouflaging of RMs [repetitive movements] may contribute to under diagnosis of autism, at least in females and transgender people" is just a preprint ("a version of a scholarly or scientific paper that precedes publication in a peer-reviewed scholarly or scientific journal"). It has not been through formal peer-review yet, but rather the authors have bravely 'put it out there' for old farts like me to pore over.

Having glanced through the abstract first and discovered the use of the words "self-identified as autistic" my brow furrowed somewhat. Upon further reading of the paper in its entirety, the furrowing brow furrowed a little less as I understood why the authors mentioned use of a cohort that was "56% formally diagnosed participants and 44% who self-identified as autistic." But that's not to say that I was completely enamoured with the study write-up as it currently stands...

Before continuing and in order to repel any accusations that come my way, I'll mention that I don't have any particular issue with people without a formal diagnosis of autism thinking/believing they are on the autism spectrum. It's their right to do so and indeed, such self-realisation is often an important step towards getting a professional assessment for autism. For some people, their hunch about being autistic eventually turns out to be correct as per them reaching defined clinical cut-off points for autism on the various instruments of assessment that are available during said professional assessment. But that's not to say that every person who self-identifies as being autistic/having autism is always going to be right. As we are starting to realise from the wealth of peer-reviewed science on this topic, the label autism does not seemingly have any exclusive rights to the presentation of autistic traits (see here and see here for examples). And it is for that reason why we have so many good and knowledgeable diagnosticians when it comes to such professional assessments, combined with an important focus on: "Symptoms caus[ing] clinically significant impairment in social, occupational, or other important areas of current functioning" in order to receive a diagnosis. Access to such autism assessments is another issue, but shouldn't be used as an excuse...

Onward:

Wiskerke et al started from the premise that repetitive movements (RMs) are common in autism but there are some potentially important differences in the expression of such issues between the genders. This follows other independent findings in this area (see here) detailing how stereotyped and repetitive behaviours may be less frequently observed in females [2] minus any sweeping generalisations. Researchers then moved on to suggesting that one of the reasons why such RMs may be less frequently observed is because they are actively being masked or camouflaged, and this could eventually lead to an under-diagnosis of autism among certain groups. 'Masking' or camouflaging in the context of autism is a bit of a hot [social media] topic at the moment (see here and see here).

"In this exploratory study, we took a first step... by using self-report measures from a large number of female and transgender adults, using recruitment on social media to an on line questionnaire." Ah yes, the on line questionnaire, which seems to becoming more and more popular in certain autism research circles [3] (see here also for another example). There's nothing wrong with using such tools for asking about opinions and the like, but they are typically open to anyone and everyone (who has access to the internet!), and not exactly great for authenticating complicated things like clinical diagnoses, behaviours and comorbidity for example. As for the incorporation of data from transgender adults, well, again this follows a theme in autism research recently (see here) where 'autistic identity' and sexual identity seem to be converging for some people/groups (see here).

"We assessed current RMs using a combination of visual analog scales for specific behaviors and textboxes for free-text responses." There's mention of using some of the DSM-5 criteria for autism in this section. Authors also talk about testing for camouflaging "using the matrix multiple-choice question “Did/do you hide these behaviors from others…” 1) “…as a child?”, 2) “…as an adolescent?”, 3) “…as an adult?”" Yet again (see here) a research priority needs to be the formulation of a valid and reliable questionnaire pertinent to 'measuring' masking/camouflaging with autism in mind. And finally there was the use of an old favourite  - the autism spectrum quotient (AQ) - by the authors, but with some added caveats...

Results:  "We found high rates of RMs in both diagnosed and self-identifying participants, and a striking prevalence of camouflaging" was one of the headlines. But... there were also some other important details observed too. So: "Higher scores in the diagnosed group were found for object fidgeting, repetitive hand movements, rocking, object spinning and hand flapping." I think most people would agree that such behaviours represent some of the more 'classical' manifestations included in the RM categorisation of autism. By contrast, other RMs such as scratching/rubbing skin, walking in circles and 'banging head' were not different between the diagnosed and self-identifying groups.

Based also on the strength of the camouflaging data presented by Wiskerke et al I have to say that I'm not yet altogether convinced by the evidence presented. It's not that I don't believe that 'self-inhibition' plays a role in such masking, nor that: "There were many references (47 participants) to having been bullied or disciplined for childhood RMs." It's just that methodologically speaking, offering up one question on such a complicated issue does not make for a scientifically compelling argument. As I previously said, autism science needs to invest in some high quality research on how to assess masking in the context of autism; perhaps including some important measure of self-monitoring for example. And one also needs to control for things like intellectual ability too and perhaps be open to other reasons why the presentation of autism between the genders/sexes might be subtly different.

I was also a little dismayed that the discussion of results by the authors did not seem to fully 'tally' with their findings. So: "The striking similarities between diagnosed and undiagnosed participants are consistent with a clinically relevant prevalence of autism in the undiagnosed group." As I've mentioned, the picture of 'striking similarities' was far from consistent when comparing RMs across the groups and those statistically significant differences reported on between diagnosed and self-identifying autism. Added to the fact that authors zoomed in on RMs without too much clinical focus on the other elements to autism, and the 'clinically relevant' picture is also far from complete based on this study alone. Indeed, other text in the discussion provide further clues as to the probable inclination of the authors: "We believe that this study in part reached the “lost generation” of autistic adults... many of whom appear to have turned to social media for support and kinship, sometimes after many disappointing encounters with clinicians and scientists." Emotive language such as 'Lost generation' really shouldn't be in a science paper without [strong] corresponding evidence.

What else? Well the authors did acknowledge some shortcomings in their study: "the on line format limited our ability to ascertain that robust diagnostic procedures had been used in all cases" and: "The self-report format also makes it possible that some participants erroneously reported an official diagnosis" (erroneously?) but perhaps more is needed to be said about participants ("the vast majority were indeed very cognitively able") and onward the applicability of results to other parts of the autism spectrum. It would also have been useful to include a few other (self-report) measures of other conditions/labels where autistic characteristics overlap, just to see...

I do think Wiskerke et al have tapped into a increasingly important research 'need' for some of those on the autism spectrum - masking - and how such behaviour does seem to impact on quality of life for quite a few people. We need a lot more research on this topic, and yes, there also needs to be some further analysis of what social accommodations could be made too, bearing in mind such understanding needs to come from lots of different quarters of society (see here). I'd also like to acknowledge the fact that one of the authors on the Wiskerke took the time to converse (on Twitter) with me about their paper, which was rather encouraging.

But still, I can't shake the idea that the methodological shortcomings of this study and the sweeping interpretations imply caution before any generalisations are made as a result. The fact also remains that self-identifying as being autistic/having autism is not the same as receiving a formal diagnosis of autism, however much people might want this to be true or find 'kinship' with the autism spectrum...

----------

[1] Wiskerke J. et al. Camouflaging of repetitive movements in autistic female and transgender adults. bioRxiv. 2018. Sept 10.

[2] Mandy W. et al. Sex differences in autism spectrum disorder: evidence from a large sample of children and adolescents. J Autism Dev Disord. 2012 Jul;42(7):1304-13.

[3] Kupferstein H. Evidence of increased PTSD symptoms in autistics exposed to applied behavior analysis. Advances in Autism. 2018; 4: 19-29.

----------

"specificity for diagnosis was relatively low": the psychometric properties of autism diagnostic measures

The quote accompanying this fairly brief post - "specificity for diagnosis was relatively low" - comes from the findings reported by Sarah Wigham and colleagues [1] who undertook a systematic review of various "structured questionnaires and diagnostic measures" used in the assessment of autism in adults.

Their conclusions, based on some 20 studies identified in the current peer-reviewed literature, suggest that 'could do better' is a phrase best suited to various measures currently used to identify adults with autism, particularly in the context of an often complicated clinical picture (see here).

Similar things have already been discussed on this blog (see here for one example). In particular, how individual self-report 'are you autistic?' screening instruments whilst making good 'pop psychology' (see here) are absolutely no match for a thorough professional clinical assessment, save other important diagnoses/conditions being overlooked and going unmanaged (see here and see here). I know this puts the concept of 'self-diagnosis' as a result of the use of such instruments in some hot water, but as in many other branches of medicine and psychiatry, professionals and the assessments they conduct are there for a very good reason. Whether you can access such assessments in a timely fashion is an entirely different issue...

When I first tweeted about this paper being published, I emphasised one author on the Wigham paper in particular: Dr Tom Berney. The reasoning behind this was because of his involvement/link to research that has looked at how we identify adults with autism here in Blighty on the back of some headlines a few years back on estimating how many adults have autism here (see here). He, alongside some other notable authors who highlighted that '1% of adults with autism' figure, also talked about how some of the screening/assessment instruments used in that study weren't really cutting the epidemiological mustard [2]. It appears they might have been right.

So what lessons can be learned from this recent review? Well first, that whilst autism-related behavioural dimensions are vitally important to a diagnosis of autism, they are not universally specific to a diagnosis of autism, is important. Second is the need to perhaps move away from often very brief autism screening instruments that seem to provide a 'quick snapshot' to something rather more far-reaching and comprehensive. I know we all want a 'quick answer' that uses as few finite resources as possible, but sometimes, to get something right, you need to spend time and resources looking at it carefully. And diagnosing professionals also need to be mindful of notions of 'frank autism' too (see here). Finally, I'd like to re-emphasise that autism plus [3] does seem to be more typical these days, over autism appearing in some sort of diagnostic vacuum. As Wigham et al opine: "Robust autism spectrum disorder assessment tools specifically for use in adult diagnostic health services in the presence of co-occurring mental health and neurodevelopmental disorders are a research priority." Indeed they are.

----------

[1] Wigham S. et al. Psychometric properties of questionnaires and diagnostic measures for autism spectrum disorders in adults: A systematic review. Autism. 2018 Feb 1:1362361317748245.

[2] Brugha TS. et al. Validating two survey methods for identifying cases of autism spectrum disorder among adults in the community. Psychol Med. 2012 Mar;42(3):647-56.

----------

Not everyone referred for an autism assessment will 'meet diagnostic criteria'

I want to introduce the findings reported by Isaac Smith and colleagues [1] to you today, and some important points related to the assessment and diagnosis of autism or autism spectrum disorder (ASD).

Looking at a cohort of youth "referred for psychological evaluations at an outpatient clinic", some 70 young adults were categorised according to their referral status (for autism or not) and outcome status (autistic or not). Authors reported on a few important things:

"Approximately half of cases referred for suspected ASD did not meet diagnostic criteria." Yes, the final numbers were quite small but this is an important finding. Minus too many sweeping generalisations, I find myself looking at that sentence again in the context of some recent social media discussions about self-diagnosis and autism (see here). Once again, minus important issues such as identity, emotions and/or politics, I find evidence that there is no substitute for a thorough professional assessment when autism is suspected. Yes, there is always the fear that self-observations might not necessarily be accurate ones [2] but...

Then: "Youth neither referred for nor diagnosed with ASD demonstrated lower anxiety than those who were referred and diagnosed." On the basis of that last sentence acknowledging that anxiety is often a frequent issue associated with autism (see here) I am, yet again, wondering whether we've been too harsh on the writings of people such as Mildred Creak and colleagues [2] for example, and their examination of the cross-over between autism and 'schizophrenic syndrome in childhood'. No, I'm not saying that autism is schizophrenia or vice-versa (despite the potential for some overlap), but their '9 key features' seems to cover quite a bit more of the essence of autism than perhaps other widely used triadic/dyadic descriptions including: e.g. "abnormal perceptual experience... acute, excessive and seemingly illogical anxiety... distortion in motility patterns." That last point on 'motility patterns' adds to the interest in how movement issues and allied presentations might also be a core feature of autism (see here).

Finally: "Comorbidity was high in all groups, including those referred primarily for ASD assessment, underscoring the importance of comprehensive assessment regardless of specificity of the referral." Comorbidity, whether behavioural/psychiatric or somatic, is a key feature of autism. The days of autism independently existing in some sort of diagnostic vacuum are becoming a distant memory (see here). More than that, the Smith findings in this area provide some exquisite evidence for the concept of ESSENCE - Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations - championed by the likes of Prof Gillberg and colleagues. The idea being that even with the label of autism outside of the equation, other developmental/behavioural/psychiatric labels/issues will often [variably] overlap (see here).

----------

[1] Smith IC. et al. The Under- and Over-Identification of Autism: Factors Associated With Diagnostic Referral. J Clin Child Adolesc Psychol. 2017 Jul 17:1-7.

[2] Lewis LF. A Mixed Methods Study of Barriers to Formal Diagnosis of Autism Spectrum Disorder in Adults. J Autism Dev Disord. 2017 Aug;47(8):2410-2424.

[3] Evans B. How autism became autism: The radical transformation of a central concept of child development in Britain. History of the Human Sciences. 2013;26(3):3-31.

----------

Reconsidering the Autism-Spectrum Quotient (AQ) for autism screening?

A quote to begin: "The AQ's [Autism Spectrum Quotient] utility for screening referrals was limited in this sample. Recommendations supporting the AQ's role in the assessment of adult ASD [autism spectrum disorder], e.g. UK NICE guidelines, may need to be reconsidered."

Taken from the paper published by Ashwood and colleagues [1], the findings from this team don't make for great reading if you happen to be a fan of the AQ as a potential screening instrument for adult autism. Indeed, mention of the specific NICE guidance where the AQ is mentioned - "consider using the Autism-Spectrum Quotient – 10 items (AQ-10)" - might make for quite a few uncomfortable discussions in times to come.

Based on the analysis of "476 adults, seen consecutively at a national ASD diagnostic referral service for suspected ASD" here in Blighty, self- and informant-report AQ scores (a supposed measure of autistic traits) were examined (both AQ10 and AQ50) in relation to who would eventually go on to receive a diagnosis of autism using some of the gold-standard assessment measures (ADOS and ADI).

The results: about three-quarters of those referred did eventually end up with a expert clinician diagnosis of autism. But... "Self-report AQ scores did not significantly predict receipt of a diagnosis" (at least not when it came to the two variants of AQ and ADOS cut-off scores) and nearly two-thirds of those who scored below the AQ cut-off "did in fact have ASD." Also important was the suggestion that "generalized anxiety disorder may 'mimic' ASD and inflate AQ scores, leading to false positives."

Although requiring independent replication, the implications of the Ashwood findings are potentially far-reaching to several aspects of autism research, practice and indeed, politics. There are a few points to make about the Ashwood paper in relation to the fact that around 1 in 5 AQ50 questionnaires for example, had to be corrected in some way as a result of between 1-4 missing items ("corrected score=raw score x (50 / (50 – missing items)"). That also schizophrenia as a discrete diagnosis was excluded from the analysis of of comorbid conditions potentially affecting AQ scores is something else that perhaps needs be looked at in view of other reports in the peer-reviewed arena [2] on this topic. Indeed, as I've indicated in other posts on this topic, the question of what exactly the AQ is measuring is still something requiring an answer (see here) minus any sweeping generalisations.

The observation that generalised anxiety disorder (GAD) when present might be something that 'inflates' scores on the AQ (particularly the AQ10 self-report) is also important to re-iterate. Bearing in mind that autism and anxiety are not unstrange diagnostic bedfellows (see here), one could argue that treating or managing anxiety should then potentially also have an impact on the presentation of autism. This follows suggestions about what might happen when other important psychiatric comorbidity 'over-represented' in autism are similarly managed (see here).

Perhaps a little more political is the additional idea that self-diagnosis - something gaining prominence in some parts - where AQ is used as the self-diagnosis tool, might not be a particularly great strategy. I know this opinion might conflict with other viewpoints but as I've said before, the process of formal diagnostic assessment for autism is there for a very good reason. Pop quizzes headed under titles like 'are you autistic?' often do a real disservice to what autism can (and does) mean to an awful lot of people and could also lead to other important conditions (such as schizophrenia and/or personality disorders) being missed or overlooked [3].

If there is a research-based take-away point from the Ashwood findings it is that reliance on AQ alone as an autism screening measure is probably not such a good idea. This point will also be further discussed when it comes to a blog about the findings from Brugha and colleagues [4] scheduled to appear shortly...

----------

[1] Ashwood KL. et al. Predicting the diagnosis of autism in adults using the Autism-Spectrum Quotient (AQ) questionnaire. Psychol Med. 2016 Jun 29:1-10.

[2] Lugnegård T. et al. Asperger syndrome and schizophrenia: Overlap of self-reported autistic traits using the Autism-spectrum Quotient (AQ). Nord J Psychiatry. 2015 May;69(4):268-74.

[3] Lugnegård T. et al. Personality disorders and autism spectrum disorders: what are the connections? Compr Psychiatry. 2012 May;53(4):333-40.

[4] Brugha TS. et al. Epidemiology of autism in adults across age groups and ability levels. Br J Psychiatry. 2016 Jul 7. pii: bjp.bp.115.174649.

----------

Ashwood KL, Gillan N, Horder J, Hayward H, Woodhouse E, McEwen FS, Findon J, Eklund H, Spain D, Wilson CE, Cadman T, Young S, Stoencheva V, Murphy CM, Robertson D, Charman T, Bolton P, Glaser K, Asherson P, Simonoff E, & Murphy DG (2016). Predicting the diagnosis of autism in adults using the Autism-Spectrum Quotient (AQ) questionnaire. Psychological medicine, 1-10 PMID: 27353452