Thursday, 27 February 2025

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.

Sunday, 23 February 2025

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.

Saturday, 8 February 2025

"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.

Wednesday, 5 February 2025

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.