Autism research in 2023: a bit of a game-changing year

 So, autism research in 2023. It’s been quite a year. Let me (briefly) tell you why.

The autism numbers game: the only way is (still) up. Northern Ireland, where some great work is done to plot the annual (estimated) prevalence rate of autism spectrum disorder (ASD) in school-aged children, said 1 in 20 (or 5%) in 2023. The US CDC said an estimated 1 in 36 8-year olds (2.7%) were autistic in 2020. The CDC also said 1 in 47 4-year olds were autistic (2%). Scotland also recently produced data observing “The prevalence of autism was 2.60% (10,089 children) in 2022. This represents a 31.98% increase from the 2018 prevalence of 1.97% (7883 children).” That Scottish data, by the way, only covered those at primary school (aged 4ish-12ish years). Other sources too are still showing a growth in the prevalence of autism across other parts of the globe, including a near 5% rate of behaviours consistent with autism or ASD in the Hadza of Tanzania. All data on autism prevalence is still only heading in one direction: UP. 

Importantly, the old ‘all better awareness’ arguments are slowly fizzling out as the effects of those prevalence stats are starting to show on resources and infrastructure that seemingly haven’t kept pace with the growth in numbers. Indeed, one of the head people related to the CDC autism figures, went as far as to say that the stats don’t really support ‘better awareness’ as the primary driver given that the increase is showing across various different ‘levels’ of autism that are/were unlikely to be missed or thought to be something else. Certainly here in the UK, I don’t think I’ve ever read so many reports about school place shortages (particularly specialised school place shortages) as I have this year. And unfortunately, with an estimated 140,000 people (mostly children and young people) awaiting assessment in England alone, I fear the squeeze on resources is just going to get worse and worse. Anyone care to start asking ‘why the increase’ yet?

CDC says yes to ‘profound autism’. Speaking of autism ‘levels’ (as in DSM-5 autism levels of support or the ICD-11 condition combinations), the CDC did something else rather important this year: producing the first ever report on the rate of profound autism in the US. So, for data covering the years 2000-2016, and using the descriptor “classified as having profound autism if they were nonverbal, were minimally verbal, or had an intelligence quotient <50” they determined that 26.7% of those with autism fitted into the profound autism category. An estimated quarter of autistic people are profoundly autistic. That’s quite important.

There were mixed reactions to the CDC use of the term profound autism. Many people were happy to see it, given that it now lays the foundations for more research and more understanding that despite being united by a triad/dyad of symptom combinations, not everyone experiences autism in the same way. Look no further than the awful early mortality statistics following the deadly triad that is autism, wandering/elopement and water safety to see this in action. Of course autism by virtue of just being diagnosed, means support is required for everyone with the diagnosis. But that support will arguably differ depending on whether you possess things like communicative speech and language, present with things like self-injurious or aggressive behaviours and/or need 24-7 care to ensure that your daily needs are fulfilled. Indeed, I often think that the general lack of support post autism diagnosis is a big driver in the reticence to adopt the term profound autism in some quarters. But should people be so reticent? I mean we have similar distinctions when it comes to experiences of learning (intellectual) disability and nobody seemingly bats an eyelid there. 

There is however more to do on profound autism. This ties into other changes that are needed when it comes to assessing things like cognitive functions and communication (verbal or non-verbal) ability in relation to autism. That’ll follow as the term beds in and builds up more of a research base. Asperger syndrome gone, profound autism steps in.

What else? 

Non-persistence of autism in (some) young kids. 2023 also gave a lot more credence to the idea that the saying ‘all autism is lifelong’ probably isn’t as accurate as you might think. Looking at the developmental trajectories of around 200 kids, all diagnosed early with autism, saw about a third of them not continuing to meet the diagnostic threshold for autism/ASD at ages 5-7 years according to a big study. Other independent work also illuminated this topic and argued against the ‘just misdiagnosed’ suggestions that some people might make and that also the state of ‘autism free’ might have important implications for various other issues too.

This was a particularly important finding for me given our paper from a few years back talking about inborn and lifelong not necessarily being the most accurate phrases for all autism. It also accords with various other studies in related areas observing that diagnoses like ADHD and depression for example, aren’t lifelong labels for absolutely everyone either. Although I noted some people tried to talk about ‘masking’ and ‘camouflaging’ as being the reasons why young kids in that JAMA study didn’t meet the thresholds for autism having previously done so, I do have to ask whether they’ve ever seen autistic kids at this age. Indeed, any child at this age, who generally aren’t renowned for their developed social etiquette abilities covering masking et al (this is also the reason that the gold-standard autism assessment instrument, the ADI-R, codes 4-5 years separately from ‘current behaviour’). As to why autism doesn’t persist for some, well, we don’t know exactly. There was talk of intervention potentially playing a role (behavioural intervention) but it’s probably going to be a bit more complicated than just that. For now, we await further studies on this important topic including more longitudinal ones and perhaps also looking at the biology behind this phenomenon. If I was to speculate about why there is autism non-persistence for some, I might be inclined to say ‘look to infection’ for some, and how, more and more, we’re learning that infection and immune responses to infection can manifest as behaviour and developmental issues as well as in immune biology. Just me speculating, so pay no mind (although that autism in Hadza children study did nicely reignite my interest in how infections like malaria can, through various mechanisms, also seemingly lead to autism).

The gut-brain axis is important to autism. I know a lot of people already appreciate this, but seeing it in a peer-reviewed mega paper in 2023 adds a lot more weight to it. Said paper trawled through huge amounts of data about gut bacteria and the like, and concluded that there is something to see both as observation and also as potential intervention. Authors even mentioned the words ‘faecal matter transplant’ (FMT) in the context that what goes on in the gut doesn’t necessarily stay in the gut, and something that is rising in some autism research and other circles. Allied to the gut-brain axis stuff was the reporting from other mega review papers observing that gastrointestinal (GI) symptoms are present in roughly 55% of children with autism, compared with about a quarter of non-autistic children. Constipation comes out on top. So fixed to clinical advice about treating such issues published over 10 years ago, maybe now is the time to preferentially screen and treat such issues in the context of autism? Perhaps recognise that the gut and brain are connected for quite a few labels/conditions? More on that shortly.

Various medical issues are over-represented in autism. More important data points to the various clusters of medical (somatic) issues that seem to accompany autism across the age ranges. Ranging from cardiovascular conditions to immune-mediated conditions, various studies confirmed what quite a few people already knew. With my gluten research hat on (I don’t actually have a hat made of gluten), I was glad to see that the archetypal gluten-related autoimmune condition called coeliac disease was given mention. Who knows, between coeliac disease and the slightly greyish area of non-coeliac gluten issues that seem to be over-represented alongside autism, there’s further hope for wider screening and use of a gluten-free diet in the context of autism? Oh, and just before you inquire about the research base in this area, here’s a couple of meta-analyses from the last few years - see here and see here - saying it might be worth a shot (minus any clinical or medical advice given or intended).

And there was yet more research on the psychiatric and behavioural issues that seem to be over-represented alongside autism. Importantly, and I do think needs a lot more investigation, one study out of Canada stressed the need to look at comorbid psychiatric issues as being an important driver of suicidal behaviours in the context of autism. I know such behaviours are complex and often very individual with a heavy biopsychosocial tilt, but there’s a wealth of evidence out there already suggesting that depression, bipolar disorder, personality disorder and schizophrenia spectrum disorders all convey a heightened risk for suicidal behaviours. All those conditions are well over-represented alongside a diagnosis of autism (yep, an estimated 1 in 10 autistic people will potentially ‘transition’ to schizophrenia). Screen, screen and treat (including, where appropriate, more clinical emphasis on the archetypal anti-suicidal agent that is lithium used in the right context).

Late 2023 research entry: CM-AT results are really, really, really promising. I’ve been following the CM-AT story for quite a while on this blog and beyond. Basically, it concerns a pancreatic enzyme therapy designed for autism that has already crossed quite a few methodological trial hurdles. Then, in November 2023 lo and behold, the results of a double-blind, placebo-controlled trial that say, yes, following the gold-standard trial design, CM-AT is good for treating/managing irritability and agitation in the context of autism in pre-schoolers. Said treatment is also likely safe and effective. This is a potential game-changer and opens the door to things like regulatory approval. Also, exquisite evidence for the whole ‘behaviour is biology’ tenet and the important role of the gut-brain axis in autism, yet again.

There was so much more other science published this year, across all-manner of different topics. Certainly far too much for me to put into one blogpost. I’m a great believer in your citizen scientists and so would encourage everyone to look-see and take part. I can’t help but draw your attention to another paper that basically said the ‘person with autism’ vs ‘autistic person’ arguments typically seen on social media aren’t really worth a dime. Ask the person how they want to be addressed. Oh, and remember, people aren’t ‘neurotypes’ either. They’re people. 

And finally… Saying farewell to Donald.

Finally, [I can see you’re yawning] a non-sciency thing to mention. ‘Patient 1’ from the great Leo Kanner’s seminal paper describing autism - Donald Triplett - passed away. If you’ve ever read or watched ‘In a Different Key’ you’ll have read about him or seen him. Of all the things said about Donald in the various obituaries to him, I think the overwhelming idea that comes across is how much community was important to him; both being part of a supportive community and having a great community around him. Loads of lessons to be learned there. My advice: seek out those who wish to foster community, and there are lots of good people of this ilk. Here's to 2024 and beyond.

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 ICD-11 diagnostic criteria for autism: criteria that actually gets it right?

I'd love to say that this post represents me getting back into autism research blogging but alas, I'm not sure I'd be able to stick to any sort of routine or plan. Work, family, karate, so many Star Wars spin-offs to watch, you know what it's like. Suffice to say that something important brought me back to making this entry: the ICD-11 criteria for autism (see here). 

So why blog about it? Well simply because I reckon that this latest version of one of the major ways that autism or autism spectrum disorder (ASD) is diagnosed is basically as good as we've ever got at defining autism and the various nuances around an autism diagnosis. 

Why? Lots of reasons, and I would invite as many people as possible to survey the criteria which is free for all to read. For me, it's as follows:

1. Autism, the catch-all diagnosis, is now not just singular autism, it's more. Much more. The criteria still consists of the timeless social communication issues (social affect as it was once called) and "persistent restricted, repetitive, and inflexible patterns of behaviour, interests, or activities." It's still talks about early onset (although the 'before 3 years of age' bit is long gone as in previous versions). Importantly it still talks about symptoms resulting in "significant impairment in personal, family, social, educational, occupational or other important areas of functioning." This last point is often not as well remembered as it should be, particularly in certain social media circles. But more than all that we now have separate diagnostic sub-codings for things like the presence of intellectual (learning) disability and functional language impairment in a sort of pick-and-mix matrices combination. The DSM-5 also tried this with their 'levels of support' or, dare I say it 'severity levels' (see here). Allied to all that is another sub-coding: loss of previously acquired skills. Y'know, all those reports of regression or plateau in skills that parents and caregivers talked about? They've been taken seriously and at last, now feature as part of the diagnostic work-up. Minus any 'I told you so' sentiments, we've already published on this a few years back (see here). The road has been long. Wow.

2. Alongside the core clinical features are quite a few other headings covering other types of behaviour that one may see accompanying autism. Anxiety, seizures and here's one: self-injurious behaviours (SIB). No it doesn't make for great reading (SIB can be absolutely devastating to the person concerned and their family) but at last, acknowledgement that it's an issue for some. There's also talk about other comorbidities / multi-morbidities (that's comorbidity not co-occurrence) to look out for. Some psychiatric, some behavioural and some somatic. Get ready for another 'I told you so' moment (see here). 

3. Standby for something really important included in the ICD-11 criteria: a list of some 18 other conditions where autistic signs and symptoms can significantly present is also provided. This is new. The list ranges from things like ADHD (attention-deficit hyperactivity disorder) to schizophrenia to personality disorder(s). Developmental coordination disorder (DCD) aka dyspraxia is also in there and acknowledges something that even the great Leo Kanner talked about. This will help clinicians (yes, the people who conduct formal autism assessments) no end. It means that they should also be on the look out for various other conditions when they make their assessments (indeed, if any of those listed overlapping conditions are also present in clinic, it might mean looking for autism too). I'll also, at this point, add in the almost forgotten issue of social (pragmatic) communication disorder (SCD) from the DSM-5 too. I'm also interested in that list of overlapping conditions because they seem to becoming more and more important to autism. Take schizophrenia for example. Did you know that an estimated 1 in 10 people with autism might be at risk of transitioning over to schizophrenia over a 10 year period according to this study from 'big data Taiwan'? And more recently we've seen research all about ADHD 'transitioning' into ASD as a primary diagnosis (see here); prodromal period anyone? Oh, and I should also mention that the word 'encephalitis' figures in those boundary conditions. I'd like to think this would trigger a lot more discussion and study on how immune system / inflammatory conditions *might* play a role in at least some autism. I say this on the back of our recent-ish review of autoimmune encephalitis and autism (see here) and my continuing interest in such things.

So there you have it citizens (hat-tip to the late great Christopher Plummer!), the ICD-11 diagnostic criteria for autism. Obviously we'll have to see where it all goes, but certainly, as the criteria beds in, diagnostic reports will get more and more detailed which has to be a boon for things like EHCPs (Education, Health and Care Plans) and getting things right for people (particularly children) when diagnosed. As for research, well, that will benefit too, given the more detailed diagnostic starting point other than just 'autism vs. non-autistic controls'. I reckon we're going to be seeing more and more objective biological markers in the coming years. One more thing: you've no doubt heard about the term 'profound autism'? Well, it looks like ICD-11, like DSM-5, is going to forward this concept a lot more in times to come. 

Peace be with you.

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