"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.

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[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.

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Once more... listen to parents: on the identification of the early behavioural signs of autism

"The results suggest that parents may detect some clinically informative behaviors based on their day-to-day observations more readily than do clinicians during brief clinical assessments."

So said the findings reported by Lori-Ann Sacrey and colleagues [1] who compared the views of parents "of children at high-risk of autism spectrum disorder (ASD; have an older sibling with ASD)" with clinicians opinions when it came to reporting on around 20 clinical signs that could indicate the presence of autism.

Clinicians relied on the Autism Observational Scale for Infants (AOSI) to make their judgements and parents used the Autism Parent Screen for Infants (APSI) (a sort of parent-version of the AOSI) for theirs when infants were between 12 and 18 months of age. Infants being 'observed' subsequently underwent "a blind independent diagnostic assessment for ASD at 36 months of age" to see how accurate those earlier parent and clinician observations were.

The old adage that 'parents generally know their children best' shines through in the Sacrey results with "parent-reported symptoms being better able to differentiate between children with and without ASD at both 12 and 18 months of age compared to clinician observations during a brief office visit." No, most parents aren't experts when it comes to child development and no, typically they aren't seeing lots of children on a day-to-day basis who may present with various developmental issues including autism. But... compared with an often "brief clinical assessment", all those day-in day-out observations that are made - particularly when autism is 'already a part of the family' - do seem to count for quite a bit. Once again, we would all do well to listen to parents (see here) and any concerns they have about their child's development. I might add that combined with the recording technology available to most people these days and the tendency for many parents to document their child's every developmental move, there is potentially plenty of data available for further analysis (see here).

There are a few other issues that could come into play as a result of the Sacrey and other, related but independent findings. I tend to go on quite a bit on this blog about how various 'comorbidities' (if I can still call them that) seem to be over-represented when it comes to a diagnosis of autism. One of the more prevalent ones is that of bowel / gastrointestinal (GI) issues (see here) which is becoming more readily accepted in various circles as being a part of the clinical picture for quite a few people on the autism spectrum. I've talked before about how parents were/are typically the first ones to pick up the bowel-side of things and how, their observations of their own child's bowel symptoms, can on many occasions, provide some important 'pointers' to the professionals (see here). I see the Sacrey work as an extension of this other research, as the message 'listen to parents' continues to be a consistent theme.

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[1] Sacrey LR. et al. Parent and clinician agreement regarding early behavioral signs in 12- and 18-month-old infants at-risk of autism spectrum disorder. Autism Res. 2018 Jan 22.

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Producers and consumers of autism research: never the twain shall meet?

I was interested to read the paper by Elizabeth Pellicano and colleagues [1] (open-access) investigating "the views of community involvement in autism research both from the perspectives of autism researchers and of community members, including autistic adults, family members and practitioners". Quite a few results are reported including the idea that researchers "were skeptical about the possibilities of dramatically increasing community engagement, while community members themselves spoke about the challenges to fully understanding and influencing the research process".

I'm made of wax, Larry. What are you made of?

I believe this research links into a previous study by the same authors [2] which has also been discussed on this blog (see here) asking the question: what should autism research focus upon? The results on that occasion implied that depending on who was asked: "There was a clear disparity between the United Kingdom’s pattern of funding for autism research and the priorities articulated by the majority of participants". As an addition to that work, I'll take this opportunity to direct you to the paper by Jina Jang and colleagues [3] reporting that most autism research seems to be centred on the "younger population".

The most recent Pellicano work is again open-access but a few details are worth mentioning:

• Two instruments/methods were reported on: (i) the results of an on-line questionnaire completed by over 1500 respondents "aged 18 and over who could be divided into four key stakeholder groups: autistic adults, immediate family members, practitioners and researchers", and (ii) focus groups / individual interviews, again including people representative of those key stakeholder groups (albeit much reduced in terms of participant numbers). The idea being to ask "both researchers and members of the autism community about their experiences of engagement in research".
• Several themes are reported based on either researcher views or autism community views. "The majority of autistic adults, parents of children with autism and professionals wanted to be more involved in the research process". A nice position for autism researchers to be in by all accounts, but... "community members felt that researchers aren't proactive enough" when it came to approaching the autism community to take part in research. Even when taking part in autism research there were "largely asymmetric interactions with researchers" according to the autism community in terms of research wanting/needing study volunteers but not much after that in terms of engagement.
• Researchers also had a few issues with the whole research engagement process too. Some wanted a more inclusive relationship when it came to research engagement with the autism community. But, there was also some caution about how far this engagement should go insofar as "they [the autism community] might not be the appropriate people to decide what and how issues should be researched and... it risks “politicizing” scientific issues".
• Perhaps of potential importance to how you are reading about this study was some mention on how some members of the autism community felt that autism research was "indigestible" when it came to writing up in science papers and the use of "scientific jargon". One of the first thoughts that crossed my mind on reading such results was an article I'd read not so long ago by Steven Pinker (see here) and what this could mean for peer-reviewed science writing. That and the value of science blogging...
• Alongside quite a few other snippets of potentially important information, the authors conclude that: "There is no ‘one size fits all’ approach to community engagement" (no real surprise there) but with a little innovation, autism researchers and the autism community can reach some middle ground mutually beneficial to both camps. 

What's more to say on this topic? Well, not a great deal really, aside from that which Pellicano et al cover in their collective papers on this topic and where autism research should perhaps be heading. Of course, I would advocate for more people to get interested and involved in science - autism science - even if this means spending a few hours a week looking through something like PubMed or joining social media sites like Twitter and following those interested in the various autism research being produced. The caveats to that are that: (i) science is all about probability not absolutes, (ii) not all science is equal, and (iii) when it comes to autism, the issues of heterogeneity and all that enhanced risk of various comorbidity, need to be kept in mind when reading about any 'scientific breakthrough' or 'wonder-study' which purports to definitively answer any research question.

Insofar as resources, at least here in the UK, where people can participate in autism research, the National Autistic Society (NAS) hold a directory of research projects looking for participants (I assume other countries have similar resources). I do wonder if any such international database might exist which could act as a central autism research point drawing on resources like the US Clinicaltrials.gov facility and other research databases for those wishing to take part?

Finally, blog. Yes, you heard me correct. People with autism, parents, professionals and even researchers, put pen to paper and start your own blog... it's normally free and pretty easy to do once you get the hang of it. Who knows, perhaps one day, every study will have its own blog or blog entry.

A little song to close... Danke Schoen.

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[1] Pellicano E. et al. Views on Researcher-Community Engagement in Autism Research in the United Kingdom: A Mixed-Methods Study. PLoS ONE. 2014; 9: e109946.

[2] Pellicano E. et al. What should autism research focus upon? Community views and priorities from the United Kingdom. Autism. 2014 Oct;18(7):756-70.

[3] Jang J. et al. What are the ages of persons studied in autism research: A 20-year review. Research in Autism Spectrum Disorders. 2014; 8: 1756–1760.

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Pellicano E, Dinsmore A, & Charman T (2014). Views on Researcher-Community Engagement in Autism Research in the United Kingdom: A Mixed-Methods Study. PloS one, 9 (10) PMID: 25303222