RRBs accompanying autism are not benign

 A world away from the kum-by-yah and TikTok-ing of restricted and repetitive behaviours (RRBs) accompanying a diagnosis of autism, a real-world perspective...

""Rhianan - who was autistic - became "fixated" on things due to her condition, and said: "Her being groomed was huge and I saw her change and it had a huge impact on her."" https://www.bbc.co.uk/news/articles/c4g77e57q17o

And more detail: "... downloaded bomb manuals, guides on guerrilla warfare and media glorifying white supremacy and Nazism."

She was the youngest girl in the UK to be charged with terrorism offences. 

'Fixation' aka RRBs (repetitive and restricted patterns of behaviour) as part of a diagnosis of autism are not benign. And for this young woman, and many others like her who have similarly come to the attention of anti-terrorism services e.g. ‘Staggeringly high’ number of autistic people on UK Prevent scheme https://www.theguardian.com/uk-news/2021/jul/07/staggeringly-high-number-of-people-with-autism-on-uk-prevent-scheme the onus should be on early identification and treatment/intervention of such issues. To not do so leaves the person vulnerable and more widely, it makes society vulnerable.

Genes and environment and regression

Pathogenic variants in chromatin-related genes: Linking immune dysregulation to neuroregression and acute neuropsychiatric disorders https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16276

Interesting article: "We report eight children with de novo pathogenic DNA variants in chromatin-related genes: MORC2, CHD7, KANSL1, KMT2D, ZMYND11, HIST1HIE, EP300, and KMT2B." Chromatin is a chemical soup of DNA and proteins that condense DNA so it can fit into the cell nucleus. A sort of biological suitcase if you like.

So: "All children experienced infection or vaccine-provoked neuroregression or abrupt-onset neuropsychiatric syndromes. Most had delayed development (n = 6) before the first regression, and four had immune deficiency or autoimmunity (n = 4). At a mean age of 4 years 2 months (range 1–8 years), symptoms included infection-provoked autistic/language regression (n = 6), cognitive decline (n = 3), gait deterioration (n = 3), or abrupt-onset anxiety, obsessive-compulsive disorder, and/or tics (n = 5)."

The authors talk about how chromatin dysregulation may very well play a role in some "autistic regression and abrupt-onset neuropsychiatric syndromes". That infection and vaccine-provoked neuroregression is mentioned is important and illustrates how natural and 'acquired' infection (yes, a vaccine is all about provoking the immune system into formulating a response to a target disease) can impact on development, behaviour and cognition. I might add that this is not the only route from such exposures to behavioural consequences as per the work on mitochondrial issues e.g. Clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration https://onlinelibrary.wiley.com/doi/10.1111/j.1469-8749.2009.03488.x

Implications? As I've said before, regression in previously acquired skills is not a typical part of development. When it occurs, the onus is on medical professionals to seek answers and conduct the appropriate examinations to determine potential causes and where possible, mitigate them. Again in the context of autism, there are examples of how to do this e.g. Developmental regression and mitochondrial dysfunction in a child with autism https://pmc.ncbi.nlm.nih.gov/articles/PMC2536523/ bearing in mind the need to keep an open mind. And minus any hype.

"Phenotypic divergence between individuals with self-reported autistic traits and clinically ascertained autism"

Phenotypic divergence between individuals with self-reported autistic traits and clinically ascertained autism https://www.nature.com/articles/s44220-025-00385-8

So: "These findings highlight the need for a differentiation between clinically ascertained and trait-defined samples in autism research."

Quite a bit to take away from this study. Not least that if you are going to include the 'self-diagnosed' in your autism study, you perhaps need to say so in the title, abstract and body text, and potentially conduct separate analyses of any findings based on formally diagnosed with autism vs. self-diagnosed with autism. No, you can't honestly say your study is 'about autism' if not everyone in your cohort has received a formal professional diagnosis of autism. Sorry.

Further: "Despite having comparable self-reported autistic traits, the online high-trait group reported significantly more social anxiety and avoidant symptoms than in-person ASD participants."

This is another important point and so beautifully fits in with the ICD-11 diganostic description of autism, highlighting how there are 18 boundary conditions that can 'look like autism' but aren't autism. In this case, how the self-reported (in this cohort) may well have features that whilst looking like autism are more likely to stem from an anxiety or personality led disorder: https://icd.who.int/browse/2024-01/mms/en#437815624

I know such studies aren't going to make an iota of difference to those chained to the 'anyone can self-diagnose autism (replace with other behaviourally defined condition that doesn't have an objective diagnostic marker yet)' mindset. But for everyone else who does believe in science and the value of expert assessments, yet more proof that autistic traits are no longer the exclusive domain of a diagnosis of autism and the only way to tease out autism from 'condition(s) that manifests autistic traits' is via a comprehensive, expert-led assessment.

Prevent closed Southport killer case 'prematurely'

Prevent closed Southport killer case 'prematurely' https://www.bbc.co.uk/news/articles/c0rqxpg2ryvo

"[Rudakubana's] potential ASD [autism spectrum disorder] and 'special interest', which frequently are combined, are part of the reasons that make him susceptible to being drawn into terrorism." 

Some initial 'answers' are starting to emerge following the heinous crime in Southport in 2024 but there'll be more. Not that these should be any surprise given what we already know about the issue of autism and susceptibility to extremism and radicalisation e.g. Autism spectrum disorder, extremism and risk assessment https://onlinelibrary.wiley.com/doi/full/10.1002/cbm.2330

The news report also includes this really strange quote: "The officer also noted that Rudakubana had been diagnosed with an autism spectrum disorder (ASD), and said the way to address his "vulnerabilities" may lie outside of the Prevent scheme." This is strange because the state already knew Prevent was dealing with 'staggeringly high' numbers of autistic people: https://www.theguardian.com/uk-news/2021/jul/07/staggeringly-high-number-of-people-with-autism-on-uk-prevent-scheme and already learning how to 'manage' such vulnerabilities.

The fact that this important aspect of this particular offence is at last seeing some 'daylight' is welcomed. It forms a part of the wider inquiry into what happened in Southport and, importantly, how such a horrific crime came to be. One would hope lessons will be learned for the future safety of the general public.

From the embers of Spectrum 10K, an autism 'neuroimmune' phoenix may rise...

Statement from the Spectrum 10K research team, 30th January 2025 https://www.autismresearchcentre.com/projects/spectrum-10k/

It looks like Cambridge have decided that Spectrum10K - with the "intention had been to create a database with 10,000 DNA samples related to autism health research" - is to call it a day. 

Various voices, from several different autisms communities (note the plurals), had raised concerns about the initiative and particularly, what the endgame was. The PEAPOD studies gauged opinions from various of those autisms communities and well, ultimately I think the organisers probably thought it just wasn't worth the efforts. 

Will it be missed? For some, no. For others, particularly those allied to the genetics ilk, perhaps. 

But from out of the embers comes a potential phoenix as we're told that "there are now other very large health and genetic databases in the UK and internationally that have become available as a resource for autism health research. This means that we no longer need to collect new DNA samples as we can use existing health and genetic databases to better understand the health challenges faced by autistic people." 

More specifically one of the potential new aims seems incredibly sensible: "Whether autistic people experience greater prevalence and severity of neuroimmune conditions, and – if so – why". I'll stick my neck out here and say that this is probably more likely to yield actionable results in the form of both data on such 'neuroimmune conditions' and the ways to treat said conditions and their likely impact on the presentation of autism. Of course I am biased around the importance of somatic health conditions and autism... Bridging the Gap Between Physical Health and Autism Spectrum Disorder https://pmc.ncbi.nlm.nih.gov/articles/PMC7335278/

"Personality disorder diagnosis 'turned my life upside down'"

Personality disorder diagnosis 'turned my life upside down' https://www.bbc.co.uk/news/articles/c3w8517wd02o

"For some, the diagnosis of a personality disorder can be a route to treatment and understanding. But others have said their diagnosis has led to mistreatment and stigma."

There is an awful lot of stigma around the diagnosis of personality disorder. Borderline personality disorder (BPD) in particular, carries lots of stigma despite an estimated 1-3% of the population living with the condition.

The reason(s) for the stigma are complex but probably in part relate to the symptoms of BPD - emotional instability, disturbed patterns of thinking or perception, impulsive behaviour, intense but unstable relationships with others - and much like in other psychatric conditions, the 'fear' around something like BPD and (exaggerated) perceptions of 'unstableness' for those with a diagnosis.

This article talks about an important topic on the potential 'misdiagnosis' of personality disorder, often delivered when complex cases come to clinical attention. 'Autism' is also mentioned in this news piece, as a potential alternative diagnosis - "is now waiting for an autism assessment" - and illustrates some important points, not least that there is sometimes significant overlap between the presentation of BPD and some phenotypes of autism.

It's a difficult topic to discuss in some quarters, and science is still 'feeling its way through' such overlap and the hows-and-whys. The recent paper by Zavlis & Tyrer: The interface of autism and (borderline) personality disorder https://www.cambridge.org/core/journals/the-british-journal-of-psychiatry/article/interface-of-autism-and-borderline-personality-disorder/65B36665CFAE841DC852F68996AD9ED6 provides a really good 'where we're at' appraisal of this topic, not least highlighting that there is overlap and that needs to be taken into account when assessments are done.

I'm also coming around to the idea that in amongst the huge heterogeneity that is 'the autisms' for some, autism - a childhood developmental disorder - may well 'morph' into something more approaching a personality disorder. We know, for example, that in an estimated in 1 in 10 cases, autism 'progresses' to schizophrenia: Diagnostic progression to schizophrenia: A nationwide cohort study of 11 170 adolescents and young adults with autism spectrum disorder https://pubmed.ncbi.nlm.nih.gov/36057134/ It stands to reason that other 'progressions' are potentially possible, and certainly would account for some occasions of overlap between the two conditions. More study - minus hype, hesitency, or neurobabble - are required.