A gluten-free diet for "schizophrenia positive for antigliadin antibodies (AGA IgG)"

Short post alert...

"This feasibility study suggests that removal of gluten from the diet is associated with improvement in psychiatric and gastrointestinal symptoms in people with schizophrenia or schizoaffective disorder."

So said the findings reported by Deanna Kelly and colleagues [1] as the conference abstract [2] of their study finally hits the peer-reviewed science literature (see here).

As per my previous musings on this study, this was the "first double-blind clinical trial of gluten-free versus gluten-containing diets in a subset of patients with schizophrenia who were positive for AGA [anti-gliadin antibodies] IgG." Results were interesting insofar as "participants on the gluten-free diet showed improvement on the Clinical Global Impressions scale... and in negative symptoms." Net result: encouraging findings with the need for more study; also with a nice focus on effect sizes too...

'Nuff said.

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[1] Kelly DL. et al. Randomized controlled trial of a gluten-free diet in patients with schizophrenia positive for antigliadin antibodies (AGA IgG): a pilot feasibility study. J Psychiatry Neurosci. 2019 Mar 27;44(3):1-9.

[2] Kelly D. et al. Randomized double-blind feasibility study of a gluten-free diet in people with schizophrenia and elevated antigliadin antibodies (AGA IgG). Schizophrenia Bulletin. 2018; 44: S190.

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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.

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What factors potentially predict quality of life in adults with autism?

"The study findings are that autistic people on average have lower QoL [quality of life] than the general population in the UK." Further: "Three main characteristics were predictive of lower QoL in almost all domains: being female, having a current mental health diagnosis and higher severity of autism symptoms." By contrast: "Significant positive predictors of QoL were: being employed (physical QoL), receiving support (social and environment QoL), and being in a relationship (social QoL)."

So said the findings reported by David Mason and colleagues [1] describing the results of a study that examined "quality of life (QoL) of a large sample of autistic adults in the UK and investigates characteristics that may be predictive of QoL." This is a vitally important topic because perceived quality of life IS important and has been discussed before in the peer-reviewed research arena with autism in mind (see here).

This time around the focus was on 'self-reported' quality of life for autistic adults who submitted data as part of a research initiative "into the life experiences of autistic adults, the Adult Autism Spectrum Cohort‐UK." Some 370 people (mostly) formally diagnosed with an autism spectrum disorder (ASD) completed the WHOQoL‐BREF, a quality of life assessment schedule developed by the World Health Organisation, as well as the Social Responsiveness Scale (SRS) and a initiative-specific questionnaire that collected various information including that about "everyday life including relationship status; home life including living alone or with family members (family of origin or spouse/partner); employment including paid employment, volunteering, or retired; education including type of school and qualifications achieved; support including who supports the adult and how often support is needed; mental health/neurological conditions including current diagnoses and type of medication/therapy; physical health conditions; and autism spectrum in other family members." Acquired data was put into the statistical 'measuring' machine and trends were reported.

So, a large proportion of participants were aged between 41 and 60 years old (~40%). The sex/gender ratios were fairly evenly split (males: 54% vs. females: 43% vs. 'prefer not to say' ~3%). The vast majority of respondents reported either a mental health issue as being concurrent to their autism diagnosis/status (~70%) or a physical health issue as being present (70%). I don't think we were actually told all the specific diagnostic categories that were included under 'a mental health issue' or 'a physical health issue' but some clues are provided in the text: "most commonly depression and/or anxiety" and "sleep problems, or hypertension." The WHOQoL‐BREF, by the way, provides information on QoL in various domains: physical, psychological, social and environment. Authors therefore report that: "Reported QoL for autistic adults was lower across all four domains than UK norms."

Then to those potential predictors of 'poorer' or 'better' quality of life, as some further statistical analysis was actioned on the collected data. Quite consistently - in the physical, psychological and environment domains - the same three elements cropped up as potentially predicting poorer quality of life: being female, having a comorbid mental health diagnosis and total scores on the SRS (an instrument that "measures autism characteristics" with a focus on social aspects). Looking at the statistical strength of the various factors observed, I'd have to say that the SRS score (total) - that measure of 'autism characteristics' - was the one that seemed to be most strongly related to QoL. Yes, the implications are that the [social] manifestation of autism itself *could* be an important driver of poorer QoL. Insofar as the factors potentially related to a more positive (better) quality of life, being employed, receiving support and being in a relationship were all mentioned, but certainly not as consistently across all the various WHOQoL‐BREF domains as noted in those negative predictors.

The authors highlight a few positives and negatives in relation to their study: use of a "robust measure of QoL is a strength", pretty large sample size and the collection of some good quality 'complete' results. That being said, they also note that a general QoL questionnaire might not gather all the important information relevant to QoL in the context of autism (I do wonder if all that ICF core sets of autism work might help matters on future research occasions). And then there's the issue of representativeness to consider, when it comes to the applicability of Mason results to the (very) wide autism spectrum (see here)...

Recommendations - 'implications' - aplenty spring from the Mason results. Focus in on better screening and treatment/management of mental health (and physical health) issues when concurrent to an autism diagnosis (see here and see here for examples). Make employment - long-term employment - work better for those on the autism spectrum (see here). Devote greater resources to discovering what factors surrounding female autism might lead to poorer quality of life. All noble sentiments worth pursuing. Alongside, are those results about autism severity also seemingly impacting on QoL. Does this perhaps also imply that moves to 'intervene' on core autistic symptoms might also be a target too? Y'know, on the understanding that 'core autism features' have also been *correlated* to some other, rather extreme endpoints also significantly affecting quality of life (see here)?

Addition: 10 May 2018. Y'know I mentioned that SRS scores - "measures autism characteristics" - might be an important variable when it comes to quality of life? Well, it seems another cohort came to similar conclusions [2] (click here for a larger view of figure b and those self SRS scores)...

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[1] Mason D. et al. Predictors of quality of life for autistic adults.  Autism Res. 2018. May 7.

[2] Oakley B. et al. Why Is Quality of Life Reduced in Individuals with Autism Spectrum Conditions? Investigating the Impact of Core Symptoms and Psychiatric Comorbidities on Quality of Life in the EU-AIMS LEAP Cohort. INSAR 2018.

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"evidence does not support the validity of pathological demand avoidance as an independent syndrome"

Pathological Demand Avoidance (PDA) mentioned in the title of this post represents "a behaviour profile within the autism spectrum" according to one authoritative source.

As I mentioned in a blogpost a few years back discussing PDA (see here), the label encompasses quite a few characteristics that overlap with facets of autism. Importantly however, it also includes a few other elements, including 'resisting and avoiding the ordinary demands of life' and the 'active use of various strategies to resist demands via social manipulation', not readily associated with autism (see here for further information). The late Prof. Liz Newson talked quite a bit about PDA [1] and I was honoured to see her speak so passionately about this topic on a few occasions.

As per the UK National Autistic Society (NAS) entry on PDA, the label is "increasingly, but not universally, accepted as a behaviour profile that is seen in some individuals on the autism spectrum." Such a description sets the scene for how things stand at the moment with regards to PDA and it's current lack of formal acceptance in the various diagnostic manuals despite relatively common usage, at least here in Blighty. The viewpoint article published by Jonathan Green and colleagues [2] is likely to provoke reactions on both sides of the debate of whether PDA is an "independent syndrome" or merely reflects "an important known range of co-occurring difficulties for many children with autism spectrum disorder." Green et al suggest the latter.

This is a difficult topic to talk about. Not least because there are quite a few children and adults who have been diagnosed with PDA. The idea that these people may have been 'mis-diagnosed' or perhaps even given the label on the basis of a diagnostic 'fad' has the potential to cause quite a bit of distress both to them, their parents / caregivers and various other people who have an interest in their education and development. I make no value judgements on the Green paper aside from looking at the quality of the [current] peer-reviewed science upon which it is based.

On the topic of the peer-reviewed science on PDA, well, the term 'limited in quantity' probably best describes it so far, which is a bit surprising given the increasingly popularity of the label. I daresay that this point probably impacted on the conclusion reached by Green and colleagues, but there are some important things to highlight so far.

The paper by Elizabeth O'Nions and colleagues [3] talking about the possibility of identifying PDA via the use of the DISCO (Diagnostic Interview for Social and Communication Disorder) covered some important issues. First: "the sense that identifying PDA features in individuals within the autism spectrum may serve an important clinical function in providing tailored educational and support strategies" is mentioned. In these times when autism is increasingly being talked about in the plural sense ('the autisms') and rarely as a 'stand-alone' diagnosis (see here), PDA perhaps represents a first important step in categorising or sub-categorising part of the autism spectrum. It's perhaps no coincidence that the name Gillberg also appears on quite a bit of the literature talking about PDA, with his interest in the overlapping concept of ESSENCE including autism (see here). I might add that this is not the first time that efforts have been made with regard to formulating a diagnostic instrument for PDA [4].

Second, O'Nions and colleagues both in their adapting DISCO to diagnosis paper and other peer-reviewed publications [5] make reference to how data suggest that "a number of the traits characteristic of PDA are not very specific to the PDA phenotype and may be relatively common across the autism and problem behaviour phenotypes." They observed for example that: "Outrageous acts and lack of concern for their effects draw parallels with conduct problems and callous-unemotional traits" and even that: "The pathological demand avoidance group displayed comparable levels of autistic traits and peer problems to the autism spectrum disorders group and anti-social traits approaching those seen in the conduct problems and callous-unemotional traits group." This is important in any debate about whether PDA is deserving of a stand-alone diagnosis status or something more 'comorbid'. It should also be viewed alongside the idea that autistic traits are not seemingly just autism-specific (see here) but also occur across various different labels and diagnoses (see here). Going back to the idea for example, that callous-unemotional and anti-social traits seem to be part and parcel of some PDA, I'll draw your attention to a group of conditions where such issues are also seemingly 'over-represented' (see here) and how such conditions are themselves over-represented when it comes to the autism spectrum [6] (see here also). In short, it's [clinically] complicated.

Finally, although by no means a specific gender-linked diagnosis, I note that there are facets of the description of PDA that could 'overlap' with issues that are 'rising' when it comes to autism and in particular, female autism. So, again from the NAS description, the phrase "appears social at first and to be people-orientated" is mentioned in connection to PDA; complemented by observations on the use of 'role-play' with regard to obtaining needs and wants. I've specifically mentioned female autism in this context because of the growing interest in how the female presentation of autism might be subtly different (camouflaged) from the male presentation (see here), bearing in mind the need not to make too many sweeping generalisations (see here).

To reiterate, I remain neutral as to the current position of PDA as a distinct entity or something more 'co-occurring' symptom-wise. I do think the Green findings should be a 'call to action' for more research on this topic in terms of symptom comparisons and importantly, symptom presentation more longitudinally. With my interest in all-things 'comorbidity' in relation to autism (see here) I'd also like to see more investigations done on how the comorbidity profile may be similar/different in relation to more classical presentations of autism. And then there's biology to consider, and whether PDA notably 'differs' across any physiological measure(s) compared with other manifestations of the autism spectrum?

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[1] Newson E. et al. Pathological demand avoidance syndrome: a necessary distinction within the pervasive developmental disorders. Arch Dis Child. 2003 Jul;88(7):595-600.

[2] Green J. et al. Pathological Demand Avoidance: symptoms but not a syndrome. The Lancet Child & Adolescent Health. 2018. March 23.

[3] O'Nions E. et al. Identifying features of 'pathological demand avoidance' using the Diagnostic Interview for Social and Communication Disorders (DISCO). Eur Child Adolesc Psychiatry. 2016 Apr;25(4):407-19.

[4] O'Nions E. et al. Development of the 'Extreme Demand Avoidance Questionnaire' (EDA-Q): preliminary observations on a trait measure for Pathological Demand Avoidance. J Child Psychol Psychiatry. 2014 Jul;55(7):758-68.

[5] O'Nions E. et al. Pathological demand avoidance: exploring the behavioural profile. Autism. 2014 Jul;18(5):538-44.

[6] Gordon-Lipkin E. et al. Anxiety and Mood Disorder in Children With Autism Spectrum Disorder and ADHD. Pediatrics. 2018 Mar 30. pii: e20171377.

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ATEC (Autism Treatment Evaluation Checklist) still rising

The paper by Shreyas Mahapatra and colleagues [1] (open-access available here) provides the blogging fodder today and some important data relating to an important instrument in autism research circles: the Autism Treatment Evaluation Checklist (ATEC).

I'm a fan of the ATEC. Not only because it was one of the first instruments specifically devised to look at measuring changes to autistic symptom severity but also because it's freely available to use. No royalty payments required; free and open for anyone and everyone to use.

Devised by the late Bernard Rimland and Stephen Edelson of the Autism Research Institute (ARI), the ATEC was born out of the need for researchers and non-researchers alike to measure how autism / autistic features can, on some occasions, fluctuate, specifically in response to intervention. It's perhaps no coincidence that the ARI also holds some important data on parent ratings of how useful certain interventions were reported to be when it comes to autism (see here). Although probably not loved by all, such ratings - derived from those who probably know their children best - provide an important rough-and-ready measure of what intervention options perhaps need a little more investigation and which should probably be avoided. The fact that they're based on the reports of over 27,000 parents also helps matters too...

Anyhow, one thing that did seem to be missing from the increasing interest (see here and see here) in the ATEC is data on "the norms on the longitudinal changes in ATEC in the “treatment as usual population." The Mahapatra paper sought to partially remedy that situation based on an "observational cohort who voluntarily completed ATEC evaluations over the period of four years from 2013 to 2017."

Based on observations for some 2600-odd children (mostly males) all of whom scored 20 or above on the ATEC total score, researchers provided some important baseline data. They for example, show how total ATEC scores, a measure of autism severity, seem to change / fluctuate as children age (see Table 1). They also show how subscale scores - Speech / Language / Communication, Sociability, Sensory / Cognitive awareness, Health / Physical / Behavior - move around as a function of 'starting position' and age too. In short, it provides researchers and non-researchers alike some data on what might be expected to happen to the presentation of autism based on ATEC scoring.

But it's not by any means a perfect start. As the authors point out: "In the selection of participants for inclusion in this study, a baseline of ASD [autism spectrum disorder] diagnosis could not be established as child’s diagnosis is not part of ATEC questionnaire" indicating that not every child who participated might have had a diagnosis of autism or ASD. There were other methodological 'issues' too that need to be kept in mind.

I'm still however happy to talk about the ATEC and its potential usefulness to lots more autism studies aside from that already discussed in the peer-reviewed literature. Assuming also that ATEC has some overlap with other more standardised measures used in autism research [2] I think the future continues to look rather rosy for this rather important instrument.

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[1] Mahapatra S. et al. Autism Treatment Evaluation Checklist (ATEC) Norms: A "Growth Chart" for ATEC Score Changes as a Function of Age. Children (Basel). 2018 Feb 16;5(2). pii: E25.

[2] Geier DA. et al. A Comparison of the Autism Treatment Evaluation Checklist (ATEC) and the Childhood Autism Rating Scale (CARS) for the Quantitative Evaluation of Autism. J Ment Health Res Intellect Disabil. 2013 Oct;6(4):255-267.

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ICF core sets for autism: "third in a series of four empirical studies"

Peer-reviewed discussions on the International Classification of Functioning, Disability and Health (ICF) core sets for autism have appeared a couple of times before on this blog (see here and see here). The idea behind developing the ICF core sets - a World Health Organisation (WHO) initiative - is to build up a kind of framework for describing and organising information on functioning and disability across various diagnoses.

Autism has been in the ICF sights for a few years now. The hope is that science and clinical practice can start to get closer to the many abilities and disabilities that seem to derive from a diagnosis and offer more evidence-based 'clues' of where and when support needs to be targeted. Also perhaps potentially providing some good evidence for just how heterogeneous the autism spectrum really is...

Bearing in mind the previous research occasions where the development of the ICF core sets for autism have been discussed from a systematic review and 'experts' perspective, the paper by Soheil Mahdi and colleagues [1] adds a third tier to proceedings: "to describe functioning in ASD (as operationalized by the ICF) derived from the perspectives of diagnosed individuals, family members, and professionals." This is an important part of the ICF development schedule, in that it gave an important voice to those people who are themselves autistic and their family members. All of this set in light of a growing 'debate' on who speaks for who(m) in the context of autism (see here) and how talking more to those on the autism spectrum about their experience of autism might be a rather good idea (see here) (bearing in mind that not everyone can or does make their voice heard in such conversations - see here).

So, drawing on discussions - "focus groups and semi-structured interviews" - with some 19 stakeholder groups, the authors report how 'meaningful concepts' talked about by stakeholders were linked to the draft ICF categories already present. Various talking points emerged; some mirroring what has been previously observed: "Positive aspects of ASD [autism spectrum disorder] included honesty, attention to detail, and memory". Others, not exactly aligning with other discussions by other groups: "Body structures were sparsely mentioned by the participants."

The outcome was however pretty much the same as the other ICF development occasions: "The experiences provided by international stakeholders support the need to understand individuals with ASD in a broader perspective, extending beyond diagnostic criteria into many areas of functioning and environmental domains." The core triad/dyad of symptoms it seems, is only the starting point when it comes to what autism looks like and means. A shocker indeed!

I await more on this topic, and perhaps, mentioning how the ICF core sets for autism might also *correlate* with other important research streams such as that related to quality of life [2].

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[1] Mahdi S. et al. An international qualitative study of functioning in autism spectrum disorder using the World Health Organization international classification of functioning, disability and health framework. Autism Res. 2017 Dec 11.

[2] Lin LY. & Huang PC. Quality of life and its related factors for adults with autism spectrum disorder. Disabil Rehabil. 2017 Dec 11:1-8.

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"illness course subtypes can account for significant differences in the experiences of patients with CFS and ME"

The quote titling this post - "illness course subtypes can account for significant differences in the experiences of patients with CFS [Chronic Fatigue Syndrome] and ME [Myalgic Encephalomlyelitis]" - comes from the findings reported by Jamie Stoothoff and colleagues [1] (open-access available here).

Including one Leonard Jason on the authorship list, someone who has quite a pronounced peer-reviewed research history when it comes to ME/CFS (see here and see here for examples), researchers looked at over 500 people from various research cohorts who were "at least 18 years of age with a current diagnosis of CFS or ME." Participants from one of the cohorts, we are told, included those "who self-identified as having a CFS or ME diagnosis" so one perhaps has to be little careful when interpreting results; especially given prior 'mix-ups' between notions of  'chronic fatigue' and a diagnosis of CFS (see here)...

Participants completed a few assessment instruments including the Medical Outcomes Study 36-item short-form health survey (SF-36) and the DePaul Symptom Questionnaire (DSQ), providing a snapshot in relation to "current physical and mental functioning" and "CFS-related symptomatology." Researchers also calculated "energy quotients" which, although sounding like something a bit 'new age' actually involved asking participants to "rate their available and expended energy yesterday and last week" based on items included in the DSQ. The main aim was to explore the 'feasibility' of "classifying differing experiences of CFS and ME symptomology."

Results: a few 'generalisations' were derived from the collected results, which translated into 'illness course sub-types' such as: "Fluctuating (59.7%), with 15.9% Constantly Getting Worse, 14.1% Persisting, 8.5% Relapsing and Remitting, and 1.9% Constantly Getting Better." Authors also reported that "no significant relationship was found between illness course groups and gender, race, ethnicity, marital status, education, or work status."

Outside of other pretty obvious results - "The Constantly Getting Worse group generally reported higher levels of symptom severity and frequency when compared to the other groups, while the Constantly Improving group reported lower levels of symptom severity and frequency compared to the other groups" - authors also reported findings in relation to those energy quotients previously mentioned. So: "the Constantly Getting Worse group reported overextending their personal energy envelopes to significantly higher degree compared to the average patient" with the need for a lot more research in this area.

I know some people might be shrugging their shoulders about these results with 'so what' sentiments but I'm not one of them. The reason: quite a lot of things in relation to ME/CFS have been taken 'as read' down the years. Be that something like discussions on what recovery looks like in relation to ME/CFS (see here) through to questions about whether ME/CFS in the UK for example, is the same as ME/CFS in other parts of the world (see here), [previous] research seems to have 'skipped' quite a few important steps along the way; only now being corrected. The ideas derived from this latest research on how ME/CFS is not necessarily a 'static condition' in terms of symptom profiles (albeit based on a snapshot) adds to that basic research on the label(s).

With the requirement for quite a bit more replicative work needed, I also wondered whether this research from Stoothoff et al might overlap with other, more biologically-orientated results too. So, those talking about typical/atypical ME/CFS presentation impacting on immune system markers (see here) or even the effects of duration/staging of the condition(s) when it comes to biochemistry (see here) might represent important inclusions in further drafts of work on illness subtypes?

Oh, and whilst on the topic of ME/CFS, the recent findings by Nilsson and colleagues [2] inform us that use of a monoaminergic stabiliser - (-)-OSU6162 - previously thought to show "promise for treating a variety of neuropsychiatric disorders such as Huntington’s disease, schizophrenia, and mental fatigue following stroke or head trauma" probably isn't going to be great for ME/CFS. Yet more evidence for the idea that mental fatigue, accompanying physical fatigue and PEM as a characteristic feature of ME/CFS, is probably not just some sort of stand-alone 'psychiatric' manifestation...

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[1] Stoothoff J. et al. Subtyping Patients with Myalgic Encephalomyelitis (ME) and Chronic Fatigue Syndrome (CFS) By Course of Illness. J Biosens Biomark Diagn. 2017;2(1).

[2] Nilsson MKL. et al. A randomised controlled trial of the monoaminergic stabiliser (-)-OSU6162 in treatment of myalgic encephalomyelitis/chronic fatigue syndrome. Acta Neuropsychiatr. 2017 Dec 7:1-10.

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Is there a bidirectional relationship between autism core symptoms and anxiety?

"Our results do not support a bidirectional relationship between the ASD [autism spectrum disorder] core symptom domains and anxiety" said the findings reported by Jorieke Duvekot and colleagues [1].

Initially including 130 children diagnosed with an ASD who were then whittled down to 79 some 2 years later, researchers wanted to find out more about the "potential differential relationships of the two core symptom domains of ASD - social communication impairment and restricted, repetitive behavior - with anxiety over time." This based on the fact that anxiety disorders seem to be very much over-represented when it comes to autism (see here) and can be absolutely disabling for both the person concerned and for those significant others around them. I might add that this research group have some 'research form' when it comes to longitudinal autism research [2] coinciding with this latest publication.

The chosen method of analysis was the use of a crossed-lagged model which typically involves studying two or more variables over two or more occasions to ascertain any association(s) or not. After adding the variables under investigation into the statistical mix, authors observed that "anxiety symptoms predicted social communication impairment over time" but not the other way around. They also reported no bidirectional relationship between anxiety and restricted, repetitive behaviours, again over time.

I have to say that I was a little confused by these results. Confused because, as someone on Twitter pointed out (thanks Frank), the quite young (mean) age group of the cohort (6.7 years) might be an important variable when it comes to both the presentation and measurement of something like anxiety. I'm not saying that anxiety is not a feature of early childhood autism - indeed again this research group have some peer-reviewed experience in this area [3] - just that it would probably be a lot easier to spot and diagnose when clinical in older children/young adults assuming the correct instrument is used. To say therefore that there was no support for a bidirectional relationship between core autism symptoms and anxiety might not exactly be accurate across the autism spectrum age-groupings.

That's not the only thing that confused me: the lack of any type of relationship between anxiety and those restricted, repetitive behaviours (I'll call them RRBs for short) detailed by Duvekot et al is seemingly contrary to other research in this area [4] albeit research looking at core symptoms and anxiety over a similar time frame. Take for example the findings reported by Vicki Bitsika & Christopher Sharpley [5] (see here for my take) who observed among other things that "experiencing difficulty in changes in routine was associated with a 10-fold increase in risk of GAD [generalised anxiety disorder]." Yes, the focus was on the use of the "GAD subscale of the Child and Adolescent Symptom Inventory (CASI-4 GAD)" and one has to be careful with causality, but it does make some sense to suggest that the 'stress' of something impacting on RRBs might be enough to induce not just anxiety, but clinical anxiety even in the longer term. I'll also throw in the findings reported by Ashwood and colleagues [5] for good measure too, illustrating how one of the premier 'are you autistic?' screens (yes, the AQ) has some real problems when it comes to things like GAD mimicking ASD and potentially inflating AQ scores "leading to false positives." Such work implies that the core facets of autism might be very much interlinked with the core facets of anxiety (and vice-versa); something that I would also expect to see manifest over a longer time period. I await more research on this important topic.

To close, and related to today's content on core symptoms and comorbid conditions, I want to refer you to the article published by Ginny Russell and colleagues [6] and the importance of engaging with the community your are studying. To quote: "While treating autism per se. was seen as problematic by some, treating specific co-occurring problems was seen as helpful in some circumstances." My question: what happens if and when by treating co-occurring issues, one does start to impact on core symptoms or vice-versa? Indeed, if one assumes that some of the most debilitating and 'life-changing' aspects of autism may very well be tied into the presentation of core symptoms (see here and see here for examples), what then happens to such 'problematic' views? Difficult questions with no easy answers...

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[1] Duvekot J. et al. Examining bidirectional effects between the autism spectrum disorder (ASD) core symptom domains and anxiety in children with ASD. J Child Psychol Psychiatry. 2017 Oct 27.

[2] Duvekot J. et al. Design and Cohort Characteristics of the Social Spectrum Study: A Multicenter Study of the Autism Spectrum Among Clinically Referred Children. J Autism Dev Disord. 2017 Jan;47(1):33-48.

[3] Duvekot J. et al. Symptoms of autism spectrum disorder and anxiety: shared familial transmission and cross-assortative mating. J Child Psychol Psychiatry. 2016 Jun;57(6):759-69.

[4] Rodgers J. et al. The relationship between anxiety and repetitive behaviours in autism spectrum disorder. J Autism Dev Disord. 2012 Nov;42(11):2404-9.

[5] Ashwood KL. et al. Predicting the diagnosis of autism in adults using the Autism-Spectrum Quotient (AQ) questionnaire. Psychological Medicine. 2016;46(12):2595-2604.

[6] Russell G. et al. Selective patient and public involvement: The promise and perils of pharmaceutical intervention for autism. Health Expect. 2017 Oct 31.

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Sleep and gut issues in autism: a clinically relevant subtype?

"Autistic children with gastrointestinal or/and sleep problems may represent clinically relevant subtypes of ASD [autism spectrum disorder], for which targeted treatments may be needed."

That was one of the conclusions reached by Xiao-Lei Yang and colleagues [1] looking at an interesting combination of symptoms/conditions that have featured before on this blog (see here and see here): gastrointestinal (GI) and sleep issues with autism in mind.

Surveying around 170 children diagnosed with an autism spectrum disorder (ASD) and a similar number of "healthy children" (authors words, most definitely not mine), researchers sought to estimate the prevalence of GI and sleep issues among their cohort(s). Perhaps unsurprisingly "GI and sleep problems were prevalent in Chinese ASD children." Interestingly too: "ASD children with GI symptoms reported more severe ASD core symptoms than others." Those with sleeping issues also showed "lower performance in daily living skills, social cognition, social communication and intellectual development" than the children with ASD who did not present with sleeping issues.

The implications of such observations? Several. Not least that when one talks about GI issues  - whether functional or more pathological - being over-represented in relation to autism, one has some confidence that such 'over-representation' seems to cross different ethnicities and different countries and is not just derived from or based on Western research findings. This adds further weight to the notion that at least some types/phenotypes of autism may have a significant bowel-related component to them for whatever reason(s).

Next, the suggestion that children with autism who also present with GI symptoms might present with a more 'severe ASD core symptoms' profile provides some truly tantalising clinical and research opportunities. Not least that said bowel symptoms might be able to affect some aspects of behaviour and onward the question: what happens when bowel symptoms are effectively treated? I know such sentiments are not necessarily welcomed in some quarters ('autism symptoms are lifelong and immutable' so the saying goes) but for others, particularly those suffering with bowel symptoms (yes, I did say suffering), there are some potentially interesting consequences following intervention. Assuming also that pain and discomfort are key parts of 'suffering' from bowel issues in autism as they are when present in not-autism, we arrive at a situation whereby certain autistic traits may be at least 'heightened' when pain is present. Such a proposition is not necessarily new news to the peer-reviewed autism research (see here and see here). And if one was to assume that something like 'inflammation' might be part and parcel of said GI issues and pain in relation to autism, we arrive at yet another testable hypothesis (see here)...

Finally, sleep issues in relation to the autism spectrum. What's more to say? They are pretty prevalent throughout children and adults on the autism spectrum and probably contribute to the various 'quality of life' disparities that have been shown in relation to autism (see here). There are things that can be 'tried' in relation to intervention (see here and see here for examples) but by no means is there some 'magic wand' that helps every single sleep issue for every single person. The idea that sleep issues, like GI issues, might also impact on certain behavioural aspects linked to autism is probably not unexpected but I would like to see a lot more research done in this area before any grand sweeping generalisations are made. Not least recognising that certain over-represented behavioural comorbidity such as attention-deficit hyperactivity disorder (ADHD) is rising through the sleep research ranks (see here) and what that might mean for autistic traits in these ESSENCE-like times...

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[1] Yang X-L. et al. Are Gastrointestinal and Sleep Problems Associated with Behavioral Symptoms of Autism Spectrum Disorder? Psychiatry Research. 2017. Oct 24.

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Male and female autism might not be so dissimilar?

I read with some interest the paper by Joanna Mussey and colleagues [1] concluding that "either very small or no gender differences in age at diagnosis, intelligence quotient, cognitive profiles, or autism spectrum disorder symptom severity" were detected in their cohort of males (N=566) and females (N=113) diagnosed with an autism spectrum disorder (ASD).

Interest because, in these days of talk about a possible specific female autism phenotype emerging (see here) in light of potential sex differences in the presentation of autism (see here), one has to be quite careful not to over-generalise too much. In much the same way that terms such as 'male brains' and 'female brains' don't really do justice to the complexity of brain structure and function (see here), so one perhaps has to ensure that female autism and male autism presentation aren't offered in an 'either or' fashion despite the possibility of subtle differences in either the expression of symptoms or for example, differences in the presentation of things like over-represented comorbidity between the sexes/genders (see here).

Mussey et al reported that previous studies talking about autism 'hitting harder' when it comes to females in relation to the presence of intellectual (learning) disability and "more severe impairments" might not necessarily tell the full story. Based on the use of various instruments to to ascertain autistic traits and beyond, the authors noted some differences between the genders on measures of autism signs and symptoms but the precise significance was, in the most part, deemed "of minimal clinical significance." Such findings have also been noted in other recent research [2]. Another important message from the Mussey study results was that at least some of the instruments used to assess for autism or ASD might need some further investigation with sex/gender in mind.

Having said all that I do think there are still important issues that need to be further investigated when it comes to sex differences in autism presentation. The idea for example, of a 'female camouflage effect' (see here) still looms large in this area; where for example, verbal and non-verbal communication skills might serve to *mask* other important diagnostic features. I'm also [carefully] inclined to inquire whether gender identity over biological sex might play something of an important role in the male and female presentation of autism for some, in light of other important research (see here). There is a further scheme of work to be completed minus sweeping generalisations.

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[1] Mussey JL. et al. Are males and females with autism spectrum disorder more similar than we thought? Autism. 2017 Aug;21(6):733-737.

[2] Fulton AA. et al. Gender comparisons in children with ASD entering early intervention. Research in Developmental Disabilities. 2017. 68: 27-34.

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Caring for the carers continued

Consider this post a brief extension to a previous one talking about how greater efforts need to be put into supporting those raising and caring for a person diagnosed as being on the autism spectrum (see here).

The science accompanying this post is that published by Cécile Rattaz and colleagues [1] who drew on data derived from the EpiTED cohort (see here), an initiative designed to "understand the heterogeneity of developmental trajectories among children with a diagnosis of PDD [pervasive developmental disorder] and the role of clinical, biological and environmental factors in their adaptive outcome." Researchers concluded that certain aspects associated with a diagnosis of autism in offspring - "young adults' level of adaptive skills... symptom severity and the presence of challenging behaviors" - can very much impact on parental quality of life (QoL). They argue for "the importance to propose specific interventions to target associated challenging behaviors in ASD [autism spectrum disorder]."

Quality of life when it comes to parents or primary caregivers of those young people on the autism spectrum is an often overlooked area when it comes to research and practice. Yes, the focus should quite rightly be on the person who lives with and experiences autism (in it's many different forms) but QoL for children/offspring is often inter-connected with QoL of parents and other family members. I appreciate that some might construe this work as autism presenting a 'burden' to the family and that is not something that anyone really wants to perpetuate. It is however important to realise that issues like challenging behaviours for example (bearing in mind what this covers) can affect many aspects of parenting behaviours, including those related to fatigue (see here) and perhaps further over the longer term [2]. When added to the dwindling resources available to parents (see here for example) there can be real strains placed on parents; more so bearing in mind other factors such as one-parent families and the demands placed on parents also potentially caring for siblings or even other family members.

There are no easy answers to the question of what to do to improve parental (and child) QoL in the context of autism. As mentioned, the sentiments of 'doing more with less' in these days of continued austerity for example, do not readily lend themselves to improving the situation in terms of the availability of something like respite care for example. The onus therefore continues to fall on parents and primary caregivers...

Music to close: The Saw Doctors - I Useta Lover.

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[1] Rattaz C. et al. Quality of Life in Parents of Young Adults with ASD: EpiTED Cohort. J Autism Dev Disord. 2017 Jun 17.

[2] Benson PR. The impact of child and family stressors on the self-rated health of mothers of children with autism spectrum disorder: Associations with depressed mood over a 12-year period. Autism. 2017 Jun 1:1362361317697656.

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The ADOS-2, autism and "complex psychiatric conditions"

The findings reported by Brenna Maddox and colleagues [1] caught my eye recently and the specific finding that: "The ADOS-2 accurately identified all adults with ASD [autism spectrum disorder]; however, it also had a high rate of false positives among adults with psychosis."

ADOS-2 as in the Autism Diagnostic Observation Schedule mark 2, represents one of the premier gold-standard observational instruments for the assessment of autism or ASD. I've talked about ADOS quite a bit on this blog including the various efforts to further 'reduce down' this schedule and it's counterpart, the Autism Diagnostic Interview (ADI) to speed up the diagnostic/assessment process for example (see here).

Drawing on data derived from "adults in community mental health centers (n = 75)" where ADOS-2 was delivered, researchers observed something of a recurrent theme in screening/assessment circles in that the instruments used to look for autistic traits might not necessarily just be picking up exclusively autistic traits (see here for another example). That and/or the idea that the presentation of autistic traits might not be just confined to autism; important in these days of realisation that autism rarely exists in some sort of diagnostic vacuum (see here).

There is an interesting note added to the Maddox paper insofar as their findings serving "as a reminder that social communication difficulties measured by the ADOS-2 are not specific to ASD, particularly in clinically complex settings." This is not necessarily a new finding [2] but does further stress the 'interconnections' between autism and other labels/diagnoses (see here) as once again, the important observations made by people such as Mildred Creak and colleagues [3] are forgotten/brushed under the carpet at our peril.

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[1] Maddox BB. et al. The Accuracy of the ADOS-2 in Identifying Autism among Adults with Complex Psychiatric Conditions. J Autism Dev Disorder. 2017. June 6.

[2] Morrison KE. et al. Distinct profiles of social skill in adults with autism spectrum disorder and schizophrenia. Autism Res. 2017 May;10(5):878-887.

[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.

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Could an "ill-state" associated with anorexia nervosa mimic the symptoms of autism?

The question posed in the title of this post 'Could an "ill-state" associated with anorexia nervosa mimic the symptoms of autism?' stems from the findings reported by Heather Westwood and colleagues [1] (open-access).

They continued a research theme looking at the potential 'overlap' when it comes to autism and eating disorders such as anorexia nervosa (AN) (see here). Notably, researchers questioned whether the finding that some 50% of their cohort "scored above the clinical cut-off on the ADOS-2" but "when developmental history was obtained, only 10% met diagnostic criteria for ASD [autism spectrum disorder]" could be due to "the ill-state associated with AN."

The Westwood paper is open-access so doesn't need any further grand explanations from me. The research caveats alongside relying on quite a small cohort - "40 females aged between 12 and 18" - were that this was a snapshot study not a longitudinal one and whilst relying on data other than that just linked to the presence of autism traits, they did not control for things like social anxiety "which could lead to high scores on the ADOS-2." Interesting.

On the question of whether 'active AN' (please pardon my lack of knowledge on this topic) might have the ability to 'provoke' autistic traits, I have to say that I'm quite intrigued. This might have a few, quite important, implications not least that (a) autistic traits can be 'acquired' as per what has been noted under other different circumstances (see here and see here for examples) and (b) the potential stability of said traits might not be particularly stable for everyone at every time (see here). On that last point, we do need a lot more data as to what happens/happened when AN is treated/managed or goes into remission for example and any subsequent impact on autistic traits.

It's too early to start talking mechanisms when it comes to AN and autistic traits in light of this data alone. I might also venture into the idea that other comorbidities than can appear alongside AN might also have some impact on clinical presentation (see here) and are also in need to further investigation in the context of any eating disorders - autism correlation. Indeed, there are potentially lots of variables that need to be kept in mind (see here and see here) before any sweeping generalisation are made...

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[1] Westwood H. et al. Assessing ASD in Adolescent Females with Anorexia Nervosa using Clinical and Developmental Measures: a Preliminary Investigation. J Abnorm Child Psychol. 2017 Apr 17.

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Westwood, H., Mandy, W., Simic, M., & Tchanturia, K. (2017). Assessing ASD in Adolescent Females with Anorexia Nervosa using Clinical and Developmental Measures: a Preliminary Investigation Journal of Abnormal Child Psychology DOI: 10.1007/s10802-017-0301-x

Hornig, Lipkin and chronic fatigue syndrome again

Drs Mady Hornig and Ian Lipkin once again provide some fodder for this blog, continuing one of their important research themes on how chronic fatigue syndrome (CFS) (sometimes also referred to as myalgic encephalomyelitis, ME) might show some important immune-related issues [1].

This research tag-team and the teams of dedicated scientists who surround them are making some real progress with regards to the idea that ME/CFS is a physical condition (not psychosomatic and not 'biopsychosocial') with some readily identifiable biological features potentially accompanying cases. Of course we're not there just yet when it comes to a biological test for ME/CFS but science has at least started down that particular research path...

With accompanying media attention in tow (see here), the focus of the most recent results were on how disease sub-types might be important to CFS and specifically, how: "Immune signatures in the central nervous system of ME/CFS patients with atypical features may be distinct from those with more typical clinical presentations."

Authors described how cerebrospinal fluid (CSF) samples from "32 ME/CFS cases with classical features and presentations and 27 ME/CFS cases with atypical features or clinical presentations" were included for analysis. On what basis was 'typical' and 'atypical' described? Well: "The ‘classical’ (C-ME/CFS) group had acute onset of disease marked by a prodrome consistent with infection; ‘atypical’ (A-ME/CFS) ME/CFS patients met full diagnostic criteria for ME/CFS at onset of their illness, but had a less standard onset of ME/CFS and/or developed other disorders after illness onset of ME/CFS." Interestingly one person included in the A-ME/CFS group was described as having Gulf-War Illness (another important condition talked about on this blog).

The results: various cytokines (chemical messengers of the immune system) were assayed for and with some nifty statistical 'corrections' authors reported some potentially important differences between the groups. So: "We found discrete differences in immune signatures of the CNS in ME/CFS subjects with atypical presentations that included sparse inter-cytokine networks and lower levels of two inflammatory mediators, the Th17 cytokine, IL17A, and the IFNγ- and TLR4-induced chemokine, CXCL9." All-in-all results suggested a "less robust CNS immune activation in A-ME/CFS."

Much more research is required in this area for sure. But these results are interesting and pertinent to the idea that within the heterogeneity (where have a I heard that before?) of CFS/ME, there may be quite a few phenotypes and subgroups that might be readily separable with a little biological research effort. Does this therefore mean when we talk about the pluralisation of lots of labels (the autisms, the schizophrenias, the depressions, etc), we might also one day called it 'the chronic fatigue syndromes'? Well, I've kinda speculated about this before in the peer-reviewed domain...

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[1] Hornig M. et al. Immune network analysis of cerebrospinal fluid in myalgic encephalomyelitis/chronic fatigue syndrome with atypical and classical presentations. Transl Psychiatry. 2017 Apr 4;7(4):e1080.

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Hornig M, Gottschalk CG, Eddy ML, Che X, Ukaigwe JE, Peterson DL, & Lipkin WI (2017). Immune network analysis of cerebrospinal fluid in myalgic encephalomyelitis/chronic fatigue syndrome with atypical and classical presentations. Translational psychiatry, 7 (4) PMID: 28375204

Sex and age might affect comorbidity profiles in autism

The paper by Supekar and colleagues [1] provides some food for thought today specifically with the idea that comorbidity profiles accompanying autism might be influenced by age and gender in mind.

To quote: "These results highlight crucial differences between cross-sectional comorbidity patterns and their interactions with sex and age, which may aid in the development of effective sex- and age-specific diagnostic/treatment strategies for ASD [autism spectrum disorder] and comorbid conditions."

From a starting point assuming that the diagnosis of autism rarely exists in some sort of diagnostic vacuum (see here), researchers set about looking at comorbidity patterns for quite a few conditions/labels "using cross-sectional data from 4790 individuals with ASD and 1,842,575 individuals without ASD." The sorts of things that looked for were not uncommon to discussions about comorbidity accompanying autism on this blog (epilepsy, attention-deficit hyperactivity disorder (ADHD) and "bowel disorders" for example). The variables of sex (gender) and age were also included in the research mix.

Bearing in mind that sweeping generalisations about autism comorbidity profiles are not required, the authors highlighted a couple of important points. First: "Epilepsy, ADHD, and CNS/cranial anomalies showed exceptionally large proportions in both male (>19%) and female (>15%), children/adolescents with ASD. Notably, these prevalence rates decreased drastically with age in both males and females." This is interesting. With a rather large research gap quite visible when it comes to the concept of ageing and autism (see here), the author's data seems to be suggesting that the burden of comorbidity (some comorbidity) might decline as people diagnosed on the autism spectrum get older. Yes, the words "cross-sectional comorbidity" are important (more longitudinal study is required where people are 'followed' as they age) and there is no doubt that intervention to manage diagnoses such as epilepsy (and/or seizure disorder) probably plays a hand in presentation, but more investigation is certainly required.

Next: "the prevalence of schizophrenia increased with age affecting a disproportionately large number of older (≥35 year) adult males (25%), compared to females (7.7%), with ASD." Two points are made here: (a) rates of schizophrenia might be affected by sex, and (b) age might play a role in the presentation of schizophrenia in the context of autism. This follows a theme re-emerging over these past few years suggesting that the autism and schizophrenia spectrums might not be as separate and independent as many might believe (see here and see here). Quite a lot of [research] focus has been directed at some of the signs and symptoms of schizophrenia with [some] autism in mind (see here for example) and perhaps queries whether history was 'too quick' to try and distance the two labels from each other (were Mildred Creak and colleagues correct?). Given the significant issues potentially linked to a diagnosis of schizophrenia (see here) in terms of health inequality and the like (something also sadly not unfamiliar to autism too), the onus should surely be to screen (and keep screening) for schizophrenia when autism is present into adulthood? Said screening could be preferentially driven by the Supekar findings taking into account that caveat about not over-generalising findings.

I'm gonna stop there with discussing these results so as not to over-analyse the findings. The important take-away point is that autism is generally not a 'stand-alone' condition and that age and gender might have some important roles to play when it comes to at least some comorbidity.

Music: something lively I think so increase the volume please...

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[1] Supekar K. et al. The influence of sex and age on prevalence rates of comorbid conditions in autism. Autism Res. 2017 Feb 11.

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Supekar K, Iyer T, & Menon V (2017). The influence of sex and age on prevalence rates of comorbid conditions in autism. Autism research : official journal of the International Society for Autism Research PMID: 28188687

Autism and a 'clear' reduction of behavioural severity in cases diagnosed

"This study provides the first clear evidence of a reduction over time in the behavioral severity of individuals diagnosed with Autistic Disorder during a period of stability in diagnostic criteria."

So said the study findings reported by Andrew Whitehouse and colleagues [1] (a man not afraid to make waves when it comes to thinking about autism or about approaches to intervention) looking at "whether there were changes over time in the qualitative and quantitative phenotype of individuals who received the diagnosis of Autistic Disorder."

Based on prospective registry data of new autism / autism spectrum disorder (ASD) cases (N=1252) in Western Australia (a research favourite) between 2000 and 2006, researchers reported that the severity of the presentation of autism seemed to 'change' between the years. They concluded: "A shift toward diagnosing individuals with less severe behavioral symptoms may have contributed to the increasing prevalence of Autistic Disorder diagnoses." At least in Australia that is...

This is an interesting study. It kinda reiterates that when one talks about the quite phenomenal increase in diagnoses of autism being received, at least one factor contributory to that increase is the inclusion of a wider presentation of the condition. It also feeds into the discussions that have already happened, and will continue to happen, following the introduction of DSM-5 to autism diagnosis and in particular, the future role of the catch-all category that is social (pragmatic) communication disorder (SCD) (see here) when it comes to stiffer ASD diagnostic criteria not being met.

But just before anyone breaks out with the sweeping generalisation that the increasing prevalence of autism over the past two decades is somehow all 'manufactured' (exhibit one) according to the diagnostic procedures used, the available data points to something far more multi-faceted and complex (see here for example)...

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[1] Whitehouse AJ. et al. Evidence of a reduction over time in the behavioral severity of autistic disorder diagnoses. Autism Res. 2017 Jan 19.

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Whitehouse AJ, Cooper MN, Bebbington K, Alvares G, Lin A, Wray J, & Glasson EJ (2017). Evidence of a reduction over time in the behavioral severity of autistic disorder diagnoses. Autism research : official journal of the International Society for Autism Research PMID: 28102641

A 'frank' presentation of autism?

"Many individuals with ASD [autism spectrum disorder] have a distinctive behavioral presentation that is recognizable within moments, a phenomenon we call "frank" ASD." So said the paper by Ashley de Marchena & Judith Miller [1] who carried out an "empirical study of frank ASD" and by the looks of my Twitter feed when I initially posted about this study, there are quite a few varied opinions about the concept of 'frank' autism.

Although 'frank autism' makes up a significant portion of the chatter about the de Marchena/Miller paper, the authors do provide an alternative description using the term "classic autism" and how "there is no unitary "classic" presentation, and classic autism does not seem to correspond to level of functioning." On that basis, they set about surveying just over 150 clinicians involved in the diagnostic assessment of autism/ASD using a "13-item questionnaire about frank ASD" and report results on just how many people in their cohort were familiar with this term, how widespread they thought it might be as well as how it might be comprised.

Results: "Ninety-seven percentage of respondents were familiar with the phenomenon. Respondents estimated that 40% of the ASD population has a frank presentation." The sorts of behaviours respondents thought were most frequently associated with frank autism were things like eye contact issues, the "presence of motor mannerisms, and atypical gait or posture" and communicative styles. Surprisingly: "respondents reported detecting frank features rapidly, with the majority forming their impressions within the first ten minutes of interaction or observation." Ten minutes, eh?

"We discuss these findings within the context of diagnostic decision-making and behavioral phenotyping of ASD" said the authors, as some important insights into clinical decisions about autism assessments are potentially revealed in this paper.

In line with the comments received about this paper on social media, there are a few things to note. First and foremost is the idea that clinicians might be pretty good at spotting [some] autism fairly quickly. I don't think this should surprise anyone given that autism is diagnosed by behaviour (and developmental history) and whilst nothing beats a comprehensive assessment, experienced clinicians are always going to have 'hunches' or mental tick-boxes based on their previous experiences of diagnosing autism (or not). I might add that one needs only read some of the literature behind the development of the ICF core sets for autism (which are due out in the not-so-distant-future) to see such expertise in action (see here).

But... experts whilst being experts aren't always correct as we've seen on other occasions when it comes to experts and autism screening/diagnosing (see here). There is also the suspicion that bias could be creeping into clinical decision-making too which could potentially affect diagnostic rates for specific groups for example (see here). Indeed, with all the changes being applied to some of the diagnostic criteria for autism as per the introduction of DSM-5, one wonders how such 'bias' is going to affect groupings such as the SCD 'catch-all' description (see here) for example?

I would also be a little concerned that behaviours "absent from diagnostic criteria (e.g., atypical gait or posture)" are being potentially used to form clinical opinions/decisions. Yes, I appreciate that motor issues - potentially linked to gait and posture - are in the ascendancy again when it comes to autism (see here for example) but in light of known comorbidity accompanying autism such as dyspraxia for example [2] I think we have to be quite cautious about the mindset being applied here and how comorbidity is potentially being grouped into core autism. I might also add that the growing interesting in tic disorder(s) being 'over-represented' in autism is something else that could potentially be affected by such 'frank' thinking (see here).

I'm a great believer in appropriate screening and detailed diagnostic assessment when it comes to autism on the basis of many variables, not least that autism rarely comes as a stand-alone diagnosis (see here) and that autistic traits are seemingly present across various other different labels too (see here and see here). Whilst it is not unexpected that those assessing and diagnosing day-after-day may build up a mental picture of what autism is (and isn't), there are cautions attached to the idea that clinical impressions are being formed seemingly so early during 'interaction or observation' and what this could mean for the heterogeneity of autism and the presentation of its important over-represented comorbidities.

Music to close and something a little relaxed to ease your 2016 worries: Erik Satie - Gymnopédie No.1.

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[1] de Marchena A. & Miller J. "Frank" presentations as a novel research construct and element of diagnostic decision-making in autism spectrum disorder. Autism Res. 2016 Oct 21.

[2] MacNeil LK. & Mostofsky SH. Specificity of dyspraxia in children with autism. Neuropsychology. 2012 Mar;26(2):165-71.

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de Marchena, A., & Miller, J. (2016). “Frank” presentations as a novel research construct and element of diagnostic decision-making in autism spectrum disorder Autism Research DOI: 10.1002/aur.1706