Iceberg! Have we reached a tipping point in autism numbers and assessment referrals?

Sorry. I really am. I'm back at the autism research blogging yet again, twice in a week. I know some people will be unhappy about that (I can hear the Twitterer cries already: 'keep yer bloody mouth shut!') but hopefully some won't be so unhappy. But writing this on a nice sunny March Sunday evening with a rerun of Titanic playing on the telly, I'm gonna talk about whether or not we've just hit the iceberg when it comes to US autism (estimated) prevalence (and those from elsewhere) and the huge backlog of autism referrals that's been making news here in Blighty aka dear old England. I'll also come clean and mention that I actually do like the film Titanic. There I said it. 

I appreciate that my use of the word 'iceberg' in the context of this blog is not likely to sit well with some people. How dare I talk about icebergs in the context of autism prevalence and such like? Well, I dare because right now there's a lot of people who are genuinely concerned that more than ever we might have started to head into and indeed, already started to scrape past, an iceberg that's been on the horizon for a number of years. And in the current climate of post-pandemic financial and resource pressures, we haven't exactly got the strongest of hulls in this societal ship in which we're all passengers on. 

So, last week we had the estimated autism prevalence figures for 8-year olds in the United States from the CDC (see here). Actually we had another set of (estimated) figures relating to 4-year olds too (see here). The headline figure: well, words like 'all-time high' have been used to cover the 1 in 36 8-year olds estimated to have autism or an autism spectrum disorder (ASD). As for 4-year olds, and as per other reports (see here), 1 in 47 4-year olds was the headline figure, a leap from previous reports for this age group (1 in 59 in 2018). Both sets of figures chart the estimated numbers of cases of childhood autism and illustrate the ever upward trend that we've been seeing over the past few decades in the US and beyond.

Most press coverage of the CDC data have not sugar-coated it. Yes, there's been talk about how racial disparities in screening and assessment have been reduced in the recent figures and that's a good thing. There's also talk about the (subtly) declining male:female ratio which again, represents good progress in detection and identification. But then the conversations move to the need to provide suitable services. Y'know things like education, social and health services, and this is where the tone gets a little more serious as per the realisation that there's probably not enough suitable or appropriate services for everyone, and what services there currently are, are probably going to become even more scarce as more people need them. As an aside it's interesting too that this time around, some discussions on the new CDC figures have basically poo-pooed the whole 'it's all better awareness' arguments: "This is not just a phenomenon of becoming more sensitive to subtly impaired kids" according to one very senior person intricately involved in the CDC process of autism counting. Progress indeed given the amount of times that argument has been used, fairly unscientifically, in the past.

On this side of the Pond, I think we're starting to really see that process of 'lack of suitable services' playing out in real time. We - the UK we - are still waiting for a truly national autism prevalence initiative but we have some good counting processes in place in relation to countries of the UK like Northern Ireland and their forward-thinking in collecting and publishing school-aged autism prevalence data (see here). Northern Ireland is, I think, due to report in a few weeks time but the last time around the prevalence of autism in school-aged children came it at 1 in 21 children (see here) or 4.7% of school-aged children with autism in 2021/2022. I also happened to stumble on some other, more England-based data recently (see here) that mentioned that "2.84% of 10-14-year olds were diagnosed (1 in 35)." Obviously, one has to be a little careful with that last statistic. What this means is that the latest CDC figures for the US are not an isolated incident. They're more likely part of a global trend where the old 1% prevalence figure is completely out of sight in the rear view mirror.

As to that 'lack of suitable services'? Loads of examples to pick from. Take for example the recent BBC news report (see here) on twins, yes twins, both diagnosed with autism (and dare I say autism heading more towards 'profound'), both with EHCPs (education and healthcare plans) yet one twin offered a place at a specialised setting, the other not. The reason: the specialised setting is 'over-subscribed'. Twins. There's loads more other examples like this. Such examples complemented (if that's the right word) by multiple reports of plans to build more and more specialised schools with seemingly little realisation that said schools take a while to be built and then also need to be suitably staffed, which leads us down another potential rabbit hole. Another aside: we have some of the best teaching cupboards (yes, you heard right) in the world here in England (see here).

And if you think things are critical when it comes to resources for those lucky enough to already have a diagnosis, spare a thought for the thousands and thousands of people - predominantly school-aged children - who are waiting just to get on a waiting list for autism assessment (see here). In England alone there's about 140,000 people waiting at the time of writing (see here), again predominantly school-aged children. And now another reality: one particular part of England has recently decided that the huge numbers of people, again predominately children, wanting an autism assessment will be 'triaged' to filter out 'the most needy' (see here). That's triage as in what's normally seen on the battlefield when care is rationed according to those most in need. So children now have to be 'in crisis' before they're put on a list for a referral for autism assessment. We've hit the iceberg, haven't we? 

I don't really know what else to say about all this. Yes, it's great that everyone is getting better at recognising autism. Yes, it's great that more people are being detected and referred for an assessment. We can pat ourselves on the back for that. Unfortunately, as a society we've had our collective heads buried in the sand about what rising numbers of need actually means. And now, it's having real-world implications for many people and their loved ones. 

How many lifeboats did you say we have?

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Maenner MJ, Warren Z, Williams AR, Amoakohene E, Bakian AV, Bilder DA, Durkin MS, Fitzgerald RT, Furnier SM, Hughes MM, Ladd-Acosta CM, McArthur D, Pas ET, Salinas A, Vehorn A, Williams S, Esler A, Grzybowski A, Hall-Lande J, Nguyen RHN, Pierce K, Zahorodny W, Hudson A, Hallas L, Mancilla KC, Patrick M, Shenouda J, Sidwell K, DiRienzo M, Gutierrez J, Spivey MH, Lopez M, Pettygrove S, Schwenk YD, Washington A, Shaw KA. Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2020. MMWR Surveill Summ. 2023 Mar 24;72(2):1-14. doi: 10.15585/mmwr.ss7202a1. PMID: 36952288.

Shaw KA, Bilder DA, McArthur D, Williams AR, Amoakohene E, Bakian AV, Durkin MS, Fitzgerald RT, Furnier SM, Hughes MM, Pas ET, Salinas A, Warren Z, Williams S, Esler A, Grzybowski A, Ladd-Acosta CM, Patrick M, Zahorodny W, Green KK, Hall-Lande J, Lopez M, Mancilla KC, Nguyen RHN, Pierce K, Schwenk YD, Shenouda J, Sidwell K, Vehorn A, DiRienzo M, Gutierrez J, Hallas L, Hudson A, Spivey MH, Pettygrove S, Washington A, Maenner MJ. Early Identification of Autism Spectrum Disorder Among Children Aged 4 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2020. MMWR Surveill Summ. 2023 Mar 24;72(1):1-15. doi: 10.15585/mmwr.ss7201a1. PMID: 36952289.

The gastrointestinal (GI) effects of a gluten- and casein-free diet in autism (continued)

It took a few attempts for me to get this blog post discussing the the paper by Carlo Alessandria and colleagues [1] right. The reasons? Well, predominantly it was because I'm no expert when it comes to the gastrointestinal (GI) tract and autism and, in particular, some of the intricacies of the clinical findings in that context. Don't get me wrong, I am a very keen observer of the peer-reviewed science literature on the bowel and autism (see here and see here  and see here for examples) but I'm no gastroenterologist.

What I did take away from the Alessandria findings is that science is continually looking at the possibility of a link between the various GI issues identified in cases of autism and the still-important peer-reviewed literature on how use of a gluten- and/or casein-free diet (GCFD) seems to have a positive impact for some people on the autism spectrum (see here). Indeed, that there may be lots more to see when it comes to a gut-diet-behaviour interface in relation to (some) autism...

So, slowly does it. First, the aim of the Alessandria study: "evaluating the distribution of human leukocyte antigen (HLA)-DQ2/DQ8 typing among patients with ASD [autism spectrum disorder] with GI symptoms, together with its correlation with duodenal histology and response to GCFD."

HLA-DQ2/DQ8 'typing' are words more commonly found in relation to the prototypical 'dietary gluten can affect health' condition that is coeliac disease. They describe some of the genetics of coeliac disease (CD), and are key components involved in risk for the condition and perhaps other diagnoses of a similar autoimmune ilk. From the 150 or so participants - "with ASD with GI symptoms referred to our outpatient clinic" - who were screened for HLA-DQ2/DQ8, around half were positive (72/151). But researchers did not just stop there. Alongside they also screened for "CD-specific antibodies" (see here and see here for the flavour of what this includes) and concluded that "134 (89%) were negative." To summarise, around half of participants with autism and bowel symptoms possessed the genetics of coeliac disease. But, only around 10% showed a pattern of antibodies related to CD indicative of an immune response to gluten as well as other issues (see here).

And there was more: "Patients were prescribed a 6-month GCFD, and then clinically reassessed." This is where another 'assessment' also becomes relevant to the Alessandria findings. As part of their clinically indicated procedures, participants also underwent endoscopy. This allowed researchers to both look at the inner workings of some of the GI tract and also potentially take biopsy samples. At baseline, before any diet was put in place, they observed that: "56 (37%) showed duodenal microscopic inflammation." 'Duodenal' refers to the duodenum, a part of the GI tract fairly close to the exit of the stomach. Inflammation means just that. And something interesting seemed to connect such bowel findings and dietary response: "Response to diet was related to the presence of histological duodenal alterations at baseline (odds ratio 11.323, 95% confidence interval 1.386-92.549 for Marsh 2 pattern)." In other words, and accepting that correlation is not the same as causation, issues identified in the duodenum - "duodenal histology" - seem to be a possible predictor of response to a gluten- and casein-free diet in relation autistic people.

There is a need for lots more study in this area. Alessandria and colleagues reported their observations on the basis of patients presenting at their clinic with medical needs. This was not a clinical trial in the respect of being randomised (e.g. receiving a diet or not or some other medication to treat such identified bowel issues) or being blinded (researchers and patients not knowing who got what intervention). Knowing a little bit about the use of a GCFD in the context of autism (see here) I'm also acutely aware that 6 months following such a diet is a long time. Even with the best will in the world, some people will not be able to follow such a restrictive diet day-in, day-out. There are issues.

But the Alessandria results are important and promising. They provide a template for further study and an addition to the wealth of biologically-based information on who, on the autism spectrum, might be a 'best candidate' for dietary intervention which excludes gluten and/or casein. I know some people might start up with the 'it's too invasive' arguments in relation to the use of endoscopic and indeed, colonoscopic inquiry when it comes to autism. My counter-argument is that if physicians were presented with a child or adult who did not have autism yet had the same bowel problems as this and other cohorts, would they not be afforded the best healthcare available to them including such inquiry? And why then should a diagnosis of autism but exclusionary to accessing such healthcare? Oh, and it's worth mentioning that at least one of the authors on the Alessandria paper has talked about how technology might eventually make such invasive techniques that little less invasive [2]. Indeed, they've also talked about what else aside from a gluten- and casein-free diet might be clinically indicated for some people on the autism spectrum [3] too with GI issues in mind...

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[1] Alessandria C. et al. HLA-DQ Genotyping, Duodenal Histology, and Response to Exclusion Diet in Autistic Children With Gastrointestinal Symptoms. J Pediatr Gastroenterol Nutr. 2019 Feb 7.

[2] Balzola F. et al. Panenteric IBD-like disease in a patient with regressive autism shown for the first time by the wireless capsule enteroscopy: another piece in the jigsaw of this gut-brain syndrome? Am J Gastroenterol. 2005 Apr;100(4):979-81.

[3] Campion D. et al. The role of microbiota in autism spectrum disorders. Minerva Gastroenterol Dietol. 2018 Dec;64(4):333-350.

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Autism diagnoses in Northern Ireland: the only way is up

"Autism diagnoses in NI [Northern Ireland] children up by more than 100%" was the headline on the BBC news website recently. It followed a Freedom of Information (FOI) request from the national broadcasting corporation here in Blighty to "all five of Northern Ireland's health and social care trusts... [covering] the period between 2013-14 and 2017-18."

The scale of the issue facing the various health and social care trusts when it comes to the significant 'growth' in both received and 'awaited' autism diagnoses is not to be under-estimated. Indeed, the BBC really needn't have gone down the FOI route because Northern Ireland already collects and quite publicly publishes quite a lot of information about autism in children under their geographical jurisdiction (see here and see here).

The details? Well, if you ever you needed proof that autism is still on the increase among children and young adults, the data provide it: "In total 2,345 children under 18 were diagnosed as autistic last year, compared with 1,047 five years previously." And other details are important too: "In keeping with trends that show males are more likely to be diagnosed, almost three times more boys than girls were found to be autistic in the five years."

What else is there to say? Some old and tired arguments about 'increasing autism awareness' being behind the increase in cases being diagnosed (and awaiting diagnosis and/or assessment) is reported in the BBC piece. About 20 years ago I would have agreed with this but not so much now; we are in an age of autism awareness and have been for several years. Perhaps it's time to start thinking about what factors outside of awareness might also be contributing to the substantial increase? Y'know, entertain the idea that some of the increase may well be a real increase (see here) and start thinking about what factors might be important there?

And with growing numbers of children and young adults being diagnosed with autism, so more current- and future-planning is required to ensure that their health, educational and social needs are met. It sounds great in theory but the reality is that service provisions and resources are already struggling and increasingly scarce. Indeed, a recent article on autism from across the Pond titled "The Coming Care Crisis as Kids With Autism Grow Up" hits the nail right on the head about how 'strained' many systems currently are. And that's without even taking into account what's going to happen 5 or 10 years down the line when more and more autistic children turn into autistic adults. Action is required, like now.

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The NHS Long Term Plan and autism

The NHS (National Health Service) here in Blighty has recently released its Long Term Plan [1]. 'Long term' covers a period of 10 years and how, faced with ever-mounting financial and resource pressures, the NHS is continually trying to serve the needs of the population it serves in an ever-changing world.

Needless to say that lots of media outlets have covered the Long Term Plan (see here for example) and the various priorities that it includes. 'Prevention' and 'Early Detection' are words used quite a bit both in the reporting and the document itself, as the focus moves slightly away from hospitals to other front-line services like general practitioners (GPs) and community care agencies.

Mental health also figures in the Long Term Plan, as this area continues on its 'parity of esteem' journey (see here). Being careful not to label autism as a mental health condition, I note that autism and learning (intellectual) disability also gets a mention in the Plan for quite a few reasons...

So, starting on page 52 of the report: "Action will be taken to tackle the causes of morbidity and preventable deaths in people with a learning disability and for autistic people." It's about time that this was 'tackled'. I say that because the statistics on early mortality with autism in mind are truly, truly shocking (see here and see here). It's also of interest that the LeDeR (Learning Disabilities Mortality Review) initiative is mentioned in this context too (see here). How exactly such inequalities will be tackled is however, not precisely detailed in the Long Term Plan.

Then: "The whole NHS will improve its understanding of the needs of people with learning disabilities and autism, and work together to improve their health and wellbeing." Allied to improving uptake of annual health checks that should be available, the document talks about working with partners to "bring hearing, sight and dental checks to children and young people with a learning disability, autism or both in special residential schools." It's a start given what said overlooked issues might be involved with (see here) but what about this who aren't in special residential schools? The Plan also mentions how: "By 2023/24, a ‘digital flag’ in the patient record will ensure staff know a patient has a learning disability or autism." I believe this would also solve a few 'issues' with regards to the (estimated) prevalence of autism and/or learning disability here in Blighty (see here and see here).

Also: "Children and young people with suspected autism wait too long before being provided with a diagnostic assessment." Yes, yes they do (see here). The Plan therefore sets out to "test and implement the most effective ways to reduce waiting times for specialist services." You've got to be kinda careful with the wording here because, as far as I can see, there is no commitment to a timescale of diagnosis unlike the commitment to reducing those with autism being accommodated at inpatient units for example: "By March 2023/24, inpatient provision will have reduced to less than half of 2015 levels (on a like for like basis and taking into account population growth) and, for every one million adults, there will be no more than 30 people with a learning disability and/or autism cared for in an inpatient unit".

I'll leave readers to decide whether this Long Term Plan represents something 'good for autism' or just skirts around some of the bigger issues. Personally I see some positives and some 'missed opportunities'. Positives? Well as I said, anything that can impact on those shameful early mortality figures in the context of autism is a good thing. I do have questions about how issues like suicidality, that contribute quite a bit to the early mortality stats, are for example, going to be addressed, but if lives are going to be saved and hopefully enhanced, I'm all for that. Reducing waiting times for assessments is also a good thing, as is the idea of the 'digital flag' to (hopefully) help enhance the doctor-patient interaction where autism is a feature.

Negatives? Well, there doesn't seem to be a great amount of details mentioned and even less discussed about adult autism and what the Long Term Plan is going to do for the thousands of autistic adults (many of whom are not also described as 'learning disabled'). There are many pressing issues for this group (see here and see here), some of which cross-over with the primary tenets of the Long Term Plan (see here) with autism in mind. It strikes me that there is much more to do in this area.

So I guess we'll just have to see what happens...

Music to close: And given some recent news about Weezer, a sublime blast from the past...

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[1] The NHS Long Term Plan. January 2019.

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Estimated autism prevalence in Northern Ireland: 2.9% for 2017-2018

Consider this post discussing the publication: "The Prevalence of Autism (including Aspergers Syndrome) in School age Children in Northern Ireland 2018" an extension of other musings on previous figures to come out of Northern Ireland (see here).

On my last blogging occasion on this topic, the report (see here) covered the period 2015/2016 and detailed an estimated prevalence rate of autism spectrum disorder ("including Asperger syndrome") in Northern Ireland of 2.3%. I actually missed a report that covered the period 2016/2017 (see here) that detailed an estimated rate of 2.5%. This latest report covering 2017/2018 sets the rate at 2.9%. You can perhaps see the direction of the trend, mirroring other population estimated data (see here)...

The report(s) are open-access for anyone to see, but I'm going to pick out a few choice snippets of information.

So: the last blogging time I talked about the Northern Ireland (NI) report, I mentioned that the [estimated] prevalence rate for boys was approaching 4% based on those 2015/2016 figures. Well, that's been well and truly surpassed and is now heading towards 5% of boys in NI "identified with autism." How are they identified I hear you ask? Well, school data is the answer, "from the ‘Northern Ireland School Census’" where schools are legally obliged by the Department of Education in NI to provide information about registered pupils. Further: "The data only captures those children identified with autism, at any time there may be additional children who may be progressing through the full assessment process and it is possible that a number of children may be identified as having autism at a later date." That last point is important in the context that NI has a bit of a history of 'long-waiting lists' for autism assessments (see here). Oh, I should also mention that the National Health Service (NHS) functions in Northern Ireland just as it does in other parts of the United Kingdom (UK) meaning that healthcare (including autism assessment and diagnosis) is free at the point of need. This does not mean that things are going to be 'fast or rapid' temporally, but does mean that people don't have to typically pay extra for such clinical services.

Next: the 4:1 male:female ratio for diagnosis seems to be holding true (as it did in the latest CDC report on 'estimated' autism prevalence in the United States). I know that quite a few people talk about this ratio figure being 'inaccurate' in view of how autism may/may not present slightly 'differently' in females (see here for example), but, at the moment at least, that's what the statistics are telling us. One thing I perhaps am slightly cautious about in the latest report with regards to the sex/gender ratio thing is the phrase: "Autism could therefore be considered to be an extreme of the normal male profile." Hmm...

Also: autism prevalence by school year shows some interesting patterns. Take a look at the screen grab I've added observing that 3.4% of children in Year 9 were "identified with autism." Just in case you're not up to speed with what Year 9 translates as in age terms, have a look at this link which covers England. I think things are slightly different in NI (see here) but generally speaking, Year 9 covers somewhere between 12-14 years of age.

Finally, something else potentially quite important: "The Northern Ireland urban population has a statistically significant higher prevalence rate than the rural population." Note those words 'statistically significant', inferring that chance alone, is probably not the driver of such disparity. It's been a while since I've blogged about 'urban vs. rural' in the context of autism (see here) and I'm sure there are 101 different explanations for the mismatch. Combined however with some other observations on a possible influence of deprivation and poverty on the recent figures ("In 2017/18, the rate of autism in the most deprived MDM [Multiple Deprivation Measure] decile was 31% higher than the Northern Ireland average") one could argue that any explanation is going to be multi-factorial.

I look at these most recent figures and cannot help but think that 'increased awareness' and/or other 'artificial' explanations are (yet again) unable to entirely account for the sorts of increase in diagnosed autism being noted (see here). Were schools and other professionals 'so bad at recognising and/or recording autism' just a few years ago? No, they weren't. And to infer they were is bit a slur on the professionalism of many teachers and other associated professionals, many of whom have seen literally generations of schoolchildren pass through their educational doors.

There's also another important question to attend to on the basis of the recent figures: are the resources currently and in the future, in place to cope with the rising demands on things like education, health and social care following the increase in the numbers of children being diagnosed with autism? I say this in the context that if there are already insufficient resources to cope with the numbers requiring assessment for autism (assessments that are typically not inexpensive [1]), how can we hope that there will be sufficient resources in place over a lifetime of potential need?

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[1] Galliver M. et al. Cost of assessing a child for possible autism spectrum disorder? An observational study of current practice in child development centres in the UK. BMJ Paediatr Open. 2017 Nov 30;1(1):e000052.

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"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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Autistic traits occurring in Borderline Personality Disorder

The results published by Liliana Dell'Osso and colleagues [1] caught my attention recently and their observation that the: "Subthreshold autism spectrum may be relevant for subjects suffering from BPD [Borderline Personality Disorder]."

BPD is the "most commonly recognised personality disorder" with symptoms grouped into areas of emotional instability, disturbed thought patterns, impulsive behaviour and "intense but unstable relationships with others." It's generally not a stand-alone condition insofar as being present alongside other mental health issues too, such as anxiety, depression and/or bipolar disorder and eating disorders. Substance abuse disorders (alcohol, drugs of abuse, etc) can also be part of the clinical picture too.

Dell'Osso et al - whose other autism-linked research has appeared before on this blog (see here and see here) - detail findings in relation to their objective to "investigate the prevalence and clinical significance of autistic traits in subjects with BPD." This follows a growing trend in peer-reviewed research circles suggesting that 'autism-related dimensions' are not always 'autism-specific dimensions' (see here for an example); also following previous research talking about "overlap between autistic spectrum conditions and borderline personality disorder" [2].

Relying on data from some 50 participants with BPD and "69 healthy controls" (authors words not mine) researchers reported that those with BPD "reported higher autistic traits than healthy individuals" based on self-report using the Autism Spectrum Quotient (AQ) among other things. I'm not on this occasion going to go on about the various issues with the AQ as an 'autism screener' or anything else because (a) Dell'Osso and colleagues use results from the AQ in the context of autistic traits not diagnosis and (b) something called the Adult Autism Subthreshold Spectrum (AdAS Spectrum) schedule, I think developed by the current authors, was also part and parcel of their study methodology.

A few other important points are mentioned by Dell'Osso et al based on their results; perhaps most importantly: "Suicidality, lifetime exposure to physical/sexual abuse are impacted by autistic traits." I read this in the context that other independent research has, for example, talked about an autism diagnosis as a risk factor for suicidal behaviour(s) (see here) minus the important influences from *comorbid* conditions such as depression or other psychiatric labels (see here) to such extreme behaviour(s).

One of the primary messages to take from the Dell'Osso and other findings on this topic is once again, an example of how autistic traits and behaviours are not exclusively just part and parcel of a diagnosis of autism. I know this might sound a little counter-intuitive, but it does add to the argument that when autism is suspected, nothing, I repeat *nothing* can replace a thorough, professional assessment (see here).

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[1] Dell'Osso L. et al. Correlates of autistic traits among patients with borderline personality disorder. Comprehensive Psychiatry. 2018. Jan 5.

[2] Dudas RB. et al. The overlap between autistic spectrum conditions and borderline personality disorder. PLoS One. 2017 Sep 8;12(9):e0184447.

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"Social cognitive deficits are present in a wide range of clinical conditions"

Happy New Year!

Welcome to Questioning Answers 2018-style. Let's continue...

Today I'm bringing to your attention the findings reported by Jack Cotter and colleagues [1] who concluded that: "social cognitive deficits appear to be a core cognitive phenotype of many clinical conditions."

Social cognitive issues defined as "mental operations that underlie social interactions" and "includes a range of cognitive processes that help individuals to understand how others think and feel" are something not unknown to the core subject of this blog: autism. Indeed, Cotter et al mention how the "most heavily researched aspects of social cognition are emotion recognition and theory of mind (ToM)." Right or wrong, ToM in particular, has had quite a significant influence on autism research and thought down the years (see here).

Cotter and colleagues "sought to collate existing meta-analytic data on social cognitive performance among individuals with a range of clinical conditions" on the basis that whilst the label of autism has received the lion's share of research interest, social cognitive issues perhaps span a far wider range of labels/conditions. They scoured the peer-reviewed literature and identified some 31 meta-analyses published that "examined performance on facial emotion recognition (24 papers) and/or ToM tasks (24 papers) among 30 different clinical populations relative to controls." The sorts of clinical populations identified ranged from psychiatric disorders such as psychosis and schizophrenia, to neurological disorders such as epilepsy and traumatic brain injury to developmental disorders such as attention-deficit hyperactivity disorder (ADHD) and intellectual (learning) disability.

Their conclusions: "Though these results do not provide directly comparable estimates between clinical conditions, they provide a robust indication that social cognitive deficits appear to be a core cognitive phenotype of many developmental, neurological and psychiatric disorders." The authors go on to discuss how, on the basis of their findings, social cognitive issues (impairment) might be "a general biomarker indicative of neurological abnormality" more generally; also, in some contexts, providing information on the 'progression' of a particular condition.

In these days of ever-blurring labels and conditions, where comorbidity is proving to be the rule rather than the exception [2] (see here also), there is common sense in the Cotter findings. Sense, insofar as the idea that no one diagnostic label has generally got a monopoly on a particular behaviour and/or symptom and that social cognitive issues might be 'core' to quite a few conditions. A greater appreciation of such an idea could potentially impact, in many different ways, on what we think about many seemingly different psychiatric, developmental and neurological labels. A few stand-out points include: (a) a reiteration of how nonsensical the term 'neurotypical' is from a social cognitive perspective when describing 'not-autism' (see here); (b) a further illustration of the value of a professional assessment as and when something like autism is suspected, rather than just a reliance on brief 'are you autistic?' questionnaires that tend to rely heavily on social cognition as a 'symptom' (see here); and (c) investigation into whether or not important biological 'issues' thought to accompany social cognitive 'issues' could also be quite wide-ranging among many conditions/labels (see here for some discussion on the concept of inflammation for example).

And since we're on the topic of grand, sweeping psychological concepts spanning different conditions, how about the idea that executive function issues might also cross labels [3] too...

Stay tuned for more in 2018.

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[1] Cotter J. et al. Social cognitive dysfunction as a clinical marker: A systematic review of meta-analyses across 30 clinical conditions. Neuroscience & Biobehavioral Reviews. 2018; 84: 92-99.

[2] Posserud M. et al. Autism traits: The importance of “co-morbid” problems for impairment and contact with services. Data from the Bergen Child Study. Research in Developmental Disabilities. 2018; 72: 275-283.

[3] Carter Leno V. et al. Testing the specificity of executive functioning impairments in adolescents with ADHD, ODD/CD and ASD. Eur Child Adolesc Psychiatry. 2017 Dec 9.

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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).

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[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.

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1 in 8 kids diagnosed with ADHD also diagnosed with autism

"Approximately one in eight children currently diagnosed with ADHD [attention-deficit hyperactivity disorder] was also diagnosed with ASD [autism spectrum disorder]."

So said the findings reported by Benjamin Zablotsky and colleagues [1] derived from results obtained from the US 2014 National Survey of the Diagnosis and Treatment of ADHD and Tourette Syndrome covering some 2500 participants. Based on parental responses via telephone interviews, researchers compared "children diagnosed with ADHD and ASD with children with ADHD, but not ASD" to arrive at their headline figure. They further observed that: "Children diagnosed with both disorders had greater treatment needs, more co-occurring conditions, and were more likely to have a combined hyperactive/impulsive and inattentive ADHD subtype."

It's not necessarily new news that autism and ADHD have more than a passing connection to one and another (see here). Indeed, the idea that those diagnosed with ADHD might also need to be preferentially assessed for autism too has been suggested before (see here and see here) and under more controlled scientific conditions. All very ESSENCE like if you ask me (see here).

I'm also struck by the suggestion that those with ADHD plus autism might also be more likely to have 'greater treatment needs' and 'more co-occurring conditions'. This rings particularly true when it comes to adulthood and the enhanced risks facing those with such dual diagnoses (see here). I might also add that 'co-occurring conditions' does not necessarily imply just the behavioural or psychiatric as per other findings [2]. Indeed, the observations reported by Anna Lamanna and colleagues on allergic disease potentially being something to consider when it comes to the comorbidity of ADHD and autism ties in with other findings covered on this blog (see here). The immune system might be doing so much more than just defending the body against the odd pathogen...

And to close, in keeping with today's subject matter, it appears that medications indicated for ADHD might also have some added value alongside the management of core ADHD symptoms [3].

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[1] Zablotsky B. et al. The Co-Occurrence of Autism Spectrum Disorder in Children With ADHD. J Atten Disord. 2017 Jun 1:1087054717713638.

[2] Lamanna AL. et al. Risk factors for the existence of attention deficit hyperactivity disorder symptoms in children with autism spectrum disorders. Neuropsychiatr Dis Treat. 2017 Jun 15;13:1559-1567.

[3] Lu Y. et al. Association Between Medication Use and Performance on Higher Education Entrance Tests in Individuals With Attention-Deficit/Hyperactivity Disorder. JAMA Psychiatry. 2017 Jun 28.

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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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IMFAR, the autism numbers game and 12% showing 'optimal outcome'

A post recently published on the Spectrum website led to my blogging entry today, and the observation that: 'Alternative screen finds high autism prevalence in U.S. state'.

Discussing results delivered at IMFAR 2017 the research in question was that presented by Laura Carpenter and colleagues [1] (someone with quite a track record in autism research). This was a conference presentation and seemingly not yet peer-reviewed publication, so one needs to be a little cautious about making big claims just yet. That being said, there have been research hints that these results would be forthcoming [2] around this time.

The headline finding was that the prevalence of autism spectrum disorder (ASD) in one particular part of the United States for the birth year 2004 was probably quite a bit higher than that previously reported/estimated based on initial screening for possible ASD and then actual assessment. Details of the initiative used in this research - the South Carolina Children’s Educational Surveillance Study (SUCCESS) - can be found here.

Some 4100 children were "screened for ASD using the Social Communication Questionnaire." Those who were deemed 'at risk' for autism and a small proportion of those not hitting those *might be autism* thresholds were asked back for a more detailed interview. Although the number of children actually followed-up and interviewed who were eligible for further assessment was not particularly great, the authors were able to draw up an estimated prevalence of autism based on those who did complete the study. The figure: "ASD prevalence in this sample is 3.62%" roughly equivalent to 1 in 28 children. I say this in the context that in the United States and elsewhere, autism rates and/or numbers of cases are still high (see here and see here) and acknowledgement of the implications of such increases when it comes to services such as education, healthcare and the like.

The Spectrum article focuses quite a bit on the participation rate noted in the Carpenter study but another snippet of information is also included in the conference abstract that is worthy of discussion. A detail that reads: "Six children (6/52; 12%) had a clear developmental history of ASD but did not display clinically significant symptoms at the time of participation in this study." Further: "12% with a history of ASD no longer had significant ASD-related symptoms, providing further support for the potential for optimal outcomes in some individuals."

I'm rather interested in that 12% figure with 'optimal outcome'. Optimal outcome describes cases where a clear indication/diagnosis of autism has been seen/received, but for whatever reason(s) diagnostic thresholds are not longer met at a future assessment point. I've covered this group quite a few times on this blog, most notably in relation to a previous estimate of 9% of those diagnosed with autism potentially falling into this category (see here). Appreciating that such data challenges the assumption that *all* autism is a lifelong condition (indeed, stretching across the entire autism spectrum - see here), I'd reiterate that those described as being 'optimal outcomers' represent an important subgroup on the autism spectrum in these days of plural autisms (see here). Not least is the question: Why? Why do these children not maintain their diagnosis and what lessons (if any) can be learned for the wider autism spectrum, particularly also in the context that various quite disabling comorbidities might also be 'reduced' alongside core autism symptoms in this group.

We await formal peer-reviewed publication of the Carpenter findings and perhaps some further details.

To close, upon introducing my brood to the music of Kate Bush, I am yet again reminded just how good a singer/performer she really is...

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[1] Carpenter LA. et al. The Prevalence of Autism Spectrum Disorder in School Aged Children: Population Based Screening and Direct Assessment. IMFAR 2017.

[2] Carpenter LA. et al. Screening and direct assessment methodology to determine the prevalence of autism spectrum disorders. Ann Epidemiol. 2016 Jun;26(6):395-400.

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Carpenter LA, Boan AD, Wahlquist AE, Cohen A, Charles J, Jenner W, & Bradley CC (2016). Screening and direct assessment methodology to determine the prevalence of autism spectrum disorders. Annals of epidemiology, 26 (6), 395-400 PMID: 27230493

Detecting stereotypic behaviours through technology

"We have designed an Internet-of-Things (IoT) framework named WearSense that leverages the sensing capabilities of modern smartwatches to detect stereotypic behaviors in children with autism."

So said the paper by Amir Mohammad Amiri and colleagues [1] (open-access available here) and, I have to say, something that really piqued my [research] attention. Describing how authors managed to design and construct a smartwatch with the ability to "detect three behaviors, including hand flapping, painting, and sibbing [hitting themselves on the top of their head] that are commonly observed in children with autism" they report some preliminary findings.

When I say these are preliminary findings, I do indeed mean preliminary, as a two-phase preliminary trial included data from "12 healthy subjects aged between 23–33" and "two subjects (ages 15 and 16) diagnosed with autism." Aside from the implication that young adults with autism are somehow 'not healthy' (I think the correct terminology should be 'not diagnosed with autism/autism spectrum disorder'), you can perhaps see that much of the data for this study came from artificial, induced behaviours not necessarily produced by those on the spectrum - "The tasks that the subjects were invited to do included three different types for 20 s." I do have some other quibbles about the write-up of this study as per very generalised sentences like: "These stereotypic behaviors happen when a child is trying to regulate the sensory input from their surrounding environment."

But I don't want to take anything away from the potential of this kind of research and where, with a bit more study and refinement, it could take many areas of autism research and practice. Accepting the argument that stereotypic behaviours that can accompany autism are not always something that needs to be tinkered with, I can perhaps see a use for this technology when it comes to screening and assessment. If for example, this kind of technology could be applied to something like an ADOS assessment, you could perhaps see how there may be additional information to be garnered (and indeed, built up coincidental to the 'objectivity' linked to such an exam). Coupled with other technology in relation to things like gaze monitoring for example, the potential gets even more exciting. And then also are the potentials of this kind of tracking software in relation to monitoring physical activity and autism (see here for example) or even in the context of epilepsy occurring alongside autism (see here for another WearSense use). There may be lots more to see when it comes to such technology and autism...

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[1] Amiri AM. et al. WearSense: Detecting Autism Stereotypic Behaviors through Smartwatches. Healthcare (Basel). 2017 Feb 28;5(1).

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Amiri AM, Peltier N, Goldberg C, Sun Y, Nathan A, Hiremath SV, & Mankodiya K (2017). WearSense: Detecting Autism Stereotypic Behaviors through Smartwatches. Healthcare (Basel, Switzerland), 5 (1) PMID: 28264474

A subtype of autism linked to psychosis?

"Our data show there may be a specific subtype of ASD [autism spectrum disorder] linked to comorbid psychosis. The results support findings that psychosis in people with ASD is often atypical, particularly regarding affective disturbance."

So said the findings reported by Felicity Larson and colleagues [1] (open-access available here) who bring an important topic into view that has recently been raised in the media too (see here). I appreciate that to talk about yet more comorbidity potentially following an autism diagnosis is not exactly great news. If however, one accepts that various comorbid conditions can actually be pretty disabling for many on the autism spectrum, identifying, screening and managing/treating said comorbidity then actually becomes pretty important.

Researchers set about looking to "describe autistic and psychotic phenomenology in a group of individuals with comorbid ASD and psychosis (ASD–P) and compare this group with populations affected by either, alone." Their group comprised of adults aged 16 and over diagnosed with an ASD and comorbid psychosis (N=116). This was an opportunistic cohort insofar as being recruited between January 2010 and June 2013. Eligibility was determined by a formal diagnosis of autism at referral and meeting "criteria on the Autism Diagnostic Observation Schedule (ADOS)... at the time of involvement in the study, or... meet criteria on the Autism Diagnostic Interview-Revised (ADI-R)... for a lifetime diagnosis." Psychotic illness determination was a 2-stage affair. First, inclusion was based on "a prior clinical diagnosis of psychotic illness or gave an account of an episode that was clearly psychotic" followed by evidence of psychotic symptoms being elicited using one or more questionnaires onward to the presentation of 'research-significant psychosis'.

Results: "What is clear from this research is that individuals who experience concurrent ASD and psychotic illness exist and are treated in mental health services." I don't think there is anything too earth-shattering about that statement but it does need to be said in the context of the label of autism rarely/not existing in some sort of diagnostic vacuum (see here). Next: "Mental health services in the UK are yet to be fully equipped to support people with both psychotic illness and ASD." Again, nothing new; following a trend of resources not being available or 'ready' to accommodate people on the autism spectrum and the health inequalities that inevitably follow. Insofar as the idea that psychosis presentation may at times be 'atypical' when it comes to autism, this also follows an important trend noted in other comorbidity research (e.g. when it comes to bipolar disorder for example).

The other data presented by Larson and colleagues on the profile of autistic symptoms potentially being slightly different when compared to a 'control group' of those diagnosed with autism but without evidence of psychosis - "the ASD–no psychosis (ASD–NP) group" (n=69) - is interesting but requires quite a bit more follow-up work. I might at this point drop in the paper by the wonderfully named Robustelli and colleagues [2] talking about how "youth at high-risk of developing psychosis have fewer and poorer quality social relationships" as being potentially relevant and indeed, how social functioning can be affected long-term when it comes to psychosis. Further investigation is also required around the observation that: "Individuals with ASD–P had lower rates of schizophrenia and higher rates of psychosis-NOS" in light of other work talking about spectrums (autism and schizophrenia) colliding (see here). Although not part of this study, the name of one co-author on this paper being linked to the Autism-Spectrum Quotient (AQ) is also potentially relevant, given other work asking whether the AQ might actually be picking up signs and symptoms of something like schizophrenia too (see here).

There is also the question of possible overlapping mechanisms potentially at work when it comes to autism and psychosis. In light of recent chatter about an immune system 'feature' to some psychosis (see here) and the myriad of immune related findings linked to autism, I'd suggest that this could be one area for further research inspection. The idea also that vitamin D for example, shows some relationship to some autism (see here for example) is another area for joint investigation given some chatter about levels of the sunshine vitamin/hormone and cases of psychosis [3]. There will no doubt, be other areas of overlap potentially pertinent too...

There is quite a bit more to do in this increasingly important area of research.

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[1] Larson FV. et al. Psychosis in autism: comparison of the features of both conditions in a dually affected cohort. Br J Psychiatry. 2016 Dec 15. pii: bjp.bp.116.187682.

[2] Robustelli BL. et al. Social relationships in young adults at ultra high risk for psychosis. Psychiatry Res. 2016 Dec 7;247:345-351.

[3] Suetani S. et al. Prevalence and correlates of suboptimal vitamin D status in people living with psychotic disorders: Data from the Australian Survey of High Impact Psychosis. Australian & New Zealand Journal of Psychiatry. 2016. Dec 21.

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Larson, F., Wagner, A., Jones, P., Tantam, D., Lai, M., Baron-Cohen, S., & Holland, A. (2016). Psychosis in autism: comparison of the features of both conditions in a dually affected cohort The British Journal of Psychiatry DOI: 10.1192/bjp.bp.116.187682

Autism, ESSENCE and the question of reassessment

I talked about ESSENCE - Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations - only yesterday (see here) and here I am covering the topic again on this blog. There is good reason however that this concept appears once more, as I draw your attention to the paper by Anne-Katrin Kantzer and colleagues [1] and the specific observation that: "Co-existence with other conditions was the rule" when it comes to the diagnosis of autism.

OK, it's nothing new to say that the label of autism rarely appears in some sort of diagnostic vacuum (see here). Indeed, if there is anything that has been learned about autism over the years it is that aside from the incredible heterogeneity present across the spectrum in terms of clinical presentation, many grand theories 'about autism' have been scuppered as a consequence of their assumptions on autism being some sort of stand-alone label. A case in point: theory of mind (ToM); that even some of the major proponents of this theory have come to realise [2] has seen a "a widening of interest to other clinical groups." Indeed it has (see here for example), indeed it has. And other grand theories appear also to be following suit [3]...

The Kantzer paper - including some notable names on the authorship list - set out to examine the diagnostic outcomes of some 96 children "initially assessed for suspected ASD [autism spectrum disorder] at an average age of 2.9 years" who were followed up some two years later. There is an important word included in the Kantzer study: prospectively; as opposed to retrospectively, meaning that participants were assessed and followed in real-time (rather than solely relying on the examination of previous historical records). Various behavioural and psychometric measures were employed by the authors as part of a "broad neurodevelopmental examination... by a multi-professional team" and some rather interesting details emerged.

So: "In a cohort of young children who screened positive for autism spectrum symptoms, 93% of all with an Autism spectrum disorder (ASD) at time1 (T1) had ASD two years later." What this tell us is that in the most part, the diagnosis of autism/ASD over 2 years in young children is fairly stable. Other data has highlighted similar things. But then the question: what about the ~7% where an ASD diagnosis perhaps wasn't as stable? I've covered this topic a few times on this blog (see here and see here), where for whatever reason, the diagnosis of autism is not necessarily a lifelong label for everyone. The still controversial idea that around 9% of those originally diagnosed with autism might 'lose' their diagnosis (see here) and indeed any/many 'broader autism features' (see here) could be pertinent here accepting that in the Kantzer data we are told: "The children who did not meet criteria for ASD at T2 had symptoms of or met criteria for other neurodevelopmental/neuropsychiatric disorders in combination with marked autistic traits." I might also draw your attention to other work from members of the Kantzer group that indicated that even into adulthood, diagnoses along the autism spectrum might similarly not always be 'lifelong' for whatever reason(s) (see here).

Next: "The vast majority of children with ASD also had other neurodevelopmental symptoms or diagnoses." This kinda reiterates the notion of ESSENCE, as details such as: "Hyperactivity was observed in 42% of children with ASD at T2, and Intellectual Developmental Disorder in 30%" provide some diagnostic flesh on the bones of what ESSENCE might look like in clinical terms. Indeed, although the topic of continued debate [4] insofar as how one screens for something like attention-deficit hyperactivity disorder (ADHD) in autism, the overlap between the conditions is likely to be significant (see here).

Finally: "The risk of “over-diagnosis” of ESSENCE/ASD problems by screening for ASD at 2.5 years appears to be minimal." Accepting that important changes to the way that autism is diagnosed by at least one schedule is likely to produce some important differences in who fulfils criteria (see here), the authors seem to be fairly confident that early diagnosis might actually be (a) possible and (b) pretty accurate. The stress is most definitely on 'early diagnosis' save any charges of further health inequalities facing those on the autism spectrum.

I titled this post  'Autism, ESSENCE and the question of reassessment' because I do also want to pass some brief comment about the value of reassessment picked up by the authors: "Reassessments covering the whole range of these conditions are necessary for an optimized intervention—adapted to the individual child’s needs." This is going to take quite a huge shift in thinking and practice insofar as ensuring that a diagnostic assessment for autism does not just include an ADOS or something related but rather includes a wider spread of behavioural and psychometric instruments pertinent to various other labels/features. I can see there being objections to this line of thought; not least that in these austere times we live in when waiting times for an initial assessment can already be quite long (see here) and money and resources are stretched thin on the ground for autism, screening for a range of potential additional issues is likely to further burden limited resources. The idea also that not hitting diagnostic thresholds for autism at one point does not rule out a child hitting them at a later time point is also something likely to impact on screening and assessment services. I suppose it all depends on whether policy-makers and purse-string holders value detail or value cost-saving?

Either way, the Kantzer paper once again highlights that a diagnosis of autism rarely exists in a diagnostic vacuum.

Music to close (it's been a while) and an 80's blast from the past: Billy Ocean - Get Outta My Dreams, Get Into My Car (although please, do not get into a car with someone you don't know, no matter how well they serenade you).

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[1] Kantzer A-K. et al. Young children who screen positive for autism: Stability, change and “comorbidity” over two years. Research in Developmental Disabilities. 2016. Nov 3.

[2] Happé F. & Conway JR. Recent progress in understanding skills and impairments in social cognition. Curr Opin Pediatr. 2016 Dec;28(6):736-742.

[3] Dajani DR. et al. Heterogeneity of executive functions among comorbid neurodevelopmental disorders. Sci Rep. 2016 Nov 9;6:36566.

[4] Yerys BE. et al. Evaluation of the ADHD Rating Scale in Youth with Autism. J Autism Dev Disord. 2016 Oct 13.

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Kantzer, A., Fernell, E., Westerlund, J., Hagberg, B., Gillberg, C., & Miniscalco, C. (2016). Young children who screen positive for autism: Stability, change and “comorbidity” over two years Research in Developmental Disabilities DOI: 10.1016/j.ridd.2016.10.004