Thursday, 2 July 2026

'Profound autism' defined: moving closer to compartmentalising the heterogeneous 'autisms'

 A short post to bring a new paper to your attention: Developing a consensus research definition for profound autism using a modified Delphi method https://link.springer.com/article/10.1186/s13229-026-00727-y 

Follows on from the INSAR conference proceeding that moved things on from the previous US CDC definition that moved things on from the Lancet introduction.

Highly likely that there'll be more honing of the term and what it covers but the reasons for not using it (or using some other word salad) are getting smaller and smaller and smaller...



Friday, 5 June 2026

Elevated microbially-derived metabolites in autism: a possible diagnostic screening test for a distinct ASD phenotype

A quick entry to note that a new paper which yours truly had a small role to play in has been recently published: https://www.nature.com/articles/s41380-026-03620-5

There's been some media around it e.g. https://nypost.com/2026/05/27/health/new-urine-test-could-diagnose-autism-in-children-study/ and how after several years of collaborative research, some potentially important findings in relation to gut bacterial metabolites present in urine *might* be important to some autisms. I've stressed *might* because there's still more to do in this area and indeed, work is still continuing.

There's a couple of things that are standout in the new paper including (i) how mass spectrometry really is a top-notch method in relation to the science of metabolomics https://pharmaceutical-journal.com/article/research/in-search-of-biomarkers-the-science-of-metabolomics-in-pharmacy (particularly when one more than system are independently at work), (ii) gut and yeast related metabolites present in urine are detectable and potentially quite important to some autisms and perhaps beyond as part of that gut-brain axis, and (iii) the Easter egg in the paper was around how some autisms seemed to be linked to various previously undetected inborn errors of metabolism (most screens of IEM via the baby blood spot measurement are done with mass spectrometry too).

I'm not going to bore you with the details particularly when the rather fantastic Dr Jim Adams is going to be hosting a talk about it in the coming days - register here: https://us06web.zoom.us/webinar/register/3617798965724/WN_RBm7QCaFRceTq1EjU8HFsQ#/registration If you're so inclined, register and have a watch.


Thursday, 14 May 2026

Childhood autism in Northern Ireland: 6.2% for 2025/2026 (still relentlessly increasing)

The school-aged autism prevalence rate in Northern Ireland for 2025/2026 is 6.2% https://www.health-ni.gov.uk/sites/default/files/2026-05/asd-children-ni-2026.pdf 

Last year - 2024/2025 - it was 5.9%.

The prevalence rate of autism in boys in Northern Ireland for 2025/2026 is 8.6%. Last year (2024/2025) it was 8.3%.

The sustained upwards trend of childhood autism continues. It's now 1 in 16 if my maths are correct. 1 in 16 school-aged children in Northern Ireland has a diagnosis of autism. An avalanche of children presenting with clinically relevant autism and being diagnosed as such. And even more needs waiting in the wings as per the huge waiting lists for autism assessment.

Reasons? Well 'all better awareness' is something best left for the 1990s. It would be a brave (or stupid) person who takes up that gauntlet. 'Expanding diagnostic criteria' will probably have played a role, but bear in mind these figures have already included the change in data collection that happened in 2019/2020 which accounted for this. 

No, there is something else driving this tsunami of disability. And there's no such thing as a genetic epidemic...

Friday, 6 March 2026

Prof Uta Frith on autism: "why I no longer think autism is a spectrum" and a whole lot more

Uta Frith: why I no longer think autism is a spectrum https://www.tes.com/magazine/teaching-learning/general/uta-frith-interview-autism-not-spectrum

I often find that as people age/mature and maybe start to take their foot off often powerful careers, they tend to say more of what they actually think rather than what the 'trends' say they should think.

I think the same applies to this interview with the very famous Uta Frith and some of her views on autism now, particularly in the context of the singular description of autism now moving to something a little more 'plural' (sounds very familiar).

A few choice phrases: "... people still hang on to the idea that there is something that unites all the people who are diagnosed as autistic. I don’t believe that any more." Can't argue with that as the old 'autism community' which was often used by some very vocal people to give the impression that 'everyone agrees with me' gives way to the plural autisms communities. The diagnostic criteria for autism still unite all, but the expression of those core symptoms and their meaning and effects do not.

Further: "I think at least we have two big subgroups: the people who are diagnosed in early childhood - usually before age three or age five, depending on things like their intellectual abilities and language - and another group, diagnosed much later." Yes, one of many 'partitions' that subdivide the very heterogeneous autism label. There's lots more across symptoms intensities, developmental trajectories and also importantly, different aetiologies. The plural autisms.

"Now, I think the people in the second group really do have problems. I would definitely not say they are “making it up”. But I would say that these are problems that can perhaps be treated much better than under the label of “autism”. I would fight for that label to be limited to the first group." That is a big statement unlikely to make too many friends among certain people/groups. But I think she's right, as per the seemingly now redundant label of 'social (pragmatic) communication disorder' remaining underused and how autistic traits don't necessarily mean autism (see the ICD-11 autism criteria for what else it might mean).

And finally: "The masking idea has no scientific basis, yet everybody, including the researchers and the clinicians, has been enamoured with this idea." Not me. And certainly not Prof Fombonne and his 'poor fit' description. Indeed, even the 'science' on autism and masking isn't too sure: e.g. Camouflaging and autism: Conceptualisation and methodological issues (and that's putting it mildly).

Indeed her 'shredding' of masking / camouflaging in the context of autism is particularly welcome and a bit of wake-up call to various academics, some of whom have seemingly forgotten what (a) autism is, and (b) what scientific evidence is. It might also be worth their while looking up Hacking's 'Looping Effects' too. Mind you, they also tend be the same people who would happily study autism and include those who 'self-diagnose' as all part of a homogenous group. Even many people with autism are getting a bit sick of that (see here) as per the words: "Self-diagnosis “muddies the water”". If you'd care to see the ICD-11 autism diagnosis boundary conditions, you'll also see what other conditions may well be included in such 'self-diagnosing' studies including personality disorders and schizophrenia spectrum disorders. Nobody seems to be running to self-diagnose with them.

There'll be blood boiling about this piece from someone who knows more than most about autism but on many points, she's probably right.


Friday, 26 December 2025

2025: the year of plural autisms, folate chemistry and when curiosity about autism returned

Spectrum 2025: Year in review https://www.thetransmitter.org/spectrum/spectrum-2025-year-in-review/

A 'what happened in 2025' feature that covers the main elements of autism in 2025 including: (1) we're heading back to asking the questions of 'how and why?' about autism rather than falling back on some pseudo-religious neurobabble, (2) US policy on autism has been driving lots of focus particularly on folate chemistry - cerebral folate deficiency (CFD), folate receptor autoantibodies (FRAAs) and leucovorin (folinic acid) - and some autisms, and (3) the year that the plural autisms finally emerged into the mainstream. That last one is particularly close to my research heart: https://www.cambridge.org/core/journals/the-british-journal-of-psychiatry/article/abs/from-autism-to-the-plural-autisms-evidence-from-differing-aetiologies-developmental-trajectories-and-symptom-intensity-combinations/4D9B0B35DCF03FDBA4E001F7DC9B02D6

2025 has been a pivotal year for autism as the 'lack of curiosity' of the past few years (in some quarters) has given way to more people asking important questions. It's no longer about whether 'identity first language' trumps 'person first language' (indeed, whole swaithes of identity related stuff has been shown for what it really is) or whether other such meaningless word policing is important to many people's lives, but what can actually help people with autism and their parents/carers, particularly those with severe and/or profound autism. Indeed, mention of those words 'severe' or 'profound autism' is only going to accelerate as the old 'autism is autism' mantra dwindled further in 2025 and as 'people' or 'person' become primary, rather than their diagnostic label.

There's lots of hope for 2026 that things will continue at a similar pace.

Wednesday, 17 December 2025

Maternal autoantibody related (MAR) autism goes mainstream

"MARAbio Launches First-Ever Blood Test For Maternal Autoantibody Related Autism" https://www.marabio.com/test-launch

Woah. 

Just when you thought 2025 couldn't bring anything else to the world of the autisms (plural), a press release which was kinda expected but is now an actuality.

MAR autism - maternal autoantibody related autism - has been on the research menu for a while. Quite a few scientific papers have found it and indeed, found the specific autoantibodies (to foetal tissue) that seem to be pathogenic for risk of this type of autism. And it's not just testing either, as some science has talked about the ways-and-means to 'avert' the effects of those antibodies too and impact on offspring autism risk. This has been years in the making. 

"Commenting on the potential impact of this launch for providers and families, noted clinician and autism researcher Richard E. Frye, MD, PhD, said, "With MARAbio's test now available, particularly for those families already touched by autism, we now have access to meaningful insights into this particular and prevalent cause of autism, including the likelihood of MARA in future children. It's an exciting advancement that brings science and compassionate healthcare together in a truly impactful way."

It should perhaps be noted that the research into other types of autoantibodies - folate receptor autoantibodies - by Dr Frye and others has also been an achievement unlocked in 2025. Indeed, both these streams of research and now clinical practice, whilst so far distinct, point to a pivotal role for immune functions and their effects across quite a few autisms. And that should provide some important clues for future work on 'how and 'why' and what to do about it.

And yet more evidence for those plural autisms which is music to my research ears...