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So I just read a brand new paper out on autism. It’s a primer; which is kind of the academic equivalent of The State of The Nation address- where are we at, where to next, etc.

I thought I would share the main points here.

Link to paper 👇
ncbi.nlm.nih.gov/m/pubmed/31949…
The first think to note, is that the authors come straight out of the box and say “autism is a construct”. Yep that’s right, not a disease or even a “real” entity at all but a construct used to describe a very diverse group of individuals who share some core similarities.
They quickly point out that gross brain pathology is NOT a characteristic of autism, but that subtle anatomical and functional features have been noted in some individuals.
Next, at a conservative estimate, 52million people alive today are autistic, autism is NOT increasing in prevalence, and there is very little cultural or socio-economic variation in prevalence. Sex ratios, however, are not well understood and more research is needed.
Interestingly, developmental trajectories vary wildly- some autistic people do appear to genuinely loose their diagnosis, no longer fulfilling criteria. Others only fulfil criteria much later in development than expected- adults may not have fulfilled criteria as kids but do now.
Interestingly-

CBT has not yet been shown to be effective for autism.

There is no empirical support yet for early intervention.

Evidence for Aspergers as a separate disorder is very weak.

Social skills training appears not to translate to real-world social skills.
Heritability estimates for autism differ greatly between studies showing between 40-90% heritability.

Hertitabity doesn’t tell us about individuals, but we know that if a newborn infant has a first-degree relative with autism, there is a 20% chance they will be autistic too.
No drugs available today treat the core symptoms of autism and all come with side effects.

ADHD drugs DO work and are tolerated well in MOST people with co-occurring ADHD.

Oxytocin and vasopressin studies are underpowered and show mixed results which are not promising.
Whatever the cause (autism itself or social factors) Families where one member is autistic DO experience lower quality of life than families without an autistic member.

Indeed autism lowers the quality of life of the whole family more than any other neurodevelomental condition.
Unequivocally-

And I quote now -

“Terms such as “disease” are inappropriate and are scientifically inaccurate when referring to autism”

Pity nobody told the tutors @KingsCollegeLon
While autistic people consistent get rated as having low quality of life by objective observers, subjective experiences of quality of life in autism are actually not so bad.

Objective measures use independence and ability to work as main markers.
Early language, higher IQ and better adaptive behaviour scores are related with better quality of life as measured both objectively and subjectively and a longer lifespan.

Women with autism have a harder time maintaining employment than men- it is not yet clear why.
Zero Complementary medical approaches have been supported by scientific evidence and many are known to be dangerous.

Do not go to your naturopath for help with your autistic child, you risk harming them.
Early intervention-
Focus playtime intervention has been shown to be ineffective.

Preschool Autism Communication Trial (PACT) did not alter core autism traits.

Early Start Denver Model - there is some evidence of mild reductions in autism traits but evidence is mixed.
As of 2020 there do not exist any autism diagnostic assessments made for adults.

When an adult goes for a diagnosis we are still using tools made for diagnosing children.

Rectifying this was identified as an URGENT need.
The reproducility crisis in science is badly effecting autism research. Many studies are not replicable and this is a HUGE problem affecting animal model studies, fMRI studies, EEG studies.

The heterogeneous nature of autism is further complicating interpretation of results.
The “broken mirror theory” of autism has major problems both theoretically and empirically and should be abandoned.

Autistic people do not have a broken brain mirror.
Evidence has emerged of both hypo and hyper connectivity in the brains of autistic people.

We don’t yet know why the evidence is so mixed but it is likely due to the heterogeneous nature of autism.
MRI research into autism in particular is plagued with problems- small sample sizes, replication etc.

No MRI results are definitive.
Environmental factors which increase likelihood autism are-

Neonatal hypoxia, gestational diabetes, <12 month pregnancy interval, maternal age >40, paternal age >50, older autistic sibling, preterm birth, maternal obesity, folic acid deficiency, valproate use during pregnancy.
Environmental factors which do NOT increase likelihood of autism-

Premature rupture of membranes, hypertension in pregnancy, prenatal smoking, c-section, assisted vaginal delivery, IVF, prolonged labour, vaccination.
Environmental factors which MAY increase likelihood of autism-

Prenatal exposure to pesticides, family history of auto-immune disorders, summer birth, air pollution exposure.
While spending on research using animal models is very high, such research only targets genes implicated in <10% of autism.

Such research has told us very little about the pathophysiology of autism.

Animal models cannot inform us as to complex human social disability.
Animal models will not give us any clarity with regard to the causes of autism and are unlikely to help most people.

“Addressing a single autism mutation at a time is not synonymous with an easy avenue to clinical care of most people with autism”.
Theories of Autism-

Inc. TOM, social motivation theory, weak central coherence, enhanced perceptual processing, executive function deficits, attentional control deficits etc.

“The consensus on the potential explanatory value of these theories have declined in the past decade”
Theories of autism -

Male brain; TOM; infant social orienting deficit etc.

“Lack specificity, are largely non-developmental, applying only to a single point in time, and lack evidence as explanatory models.”
There is a surprising degree of overlap in the genetics of autism and the genetics of all other neurodevelopmental conditions- schizophrenia, major depression, bi polar, ADHD etc.

Next major area for investigation- how do these same gene mutations lead to diverse phenotypes?
Lots of evidence from multiple sources is implicating sensory systems in autism.

This is in line with what autistic people have been saying about their experience.
“Autism genes” converge around a few major points of interest-

The genes seem to be involved in chromatin remodeling, synapse formation and synaptic functioning.

diverse autism genetics may contribute to final common pathways of functional difference.
“Genetic treatments” (when we have them) will focus on neurodevelopment generally and won’t be specific to autism.

Autism won’t likely be a “thing” in the biological/medical/research world in a few years time.
Major discrepancy between where research $$$ are being spent (biomarkers/genetics) and where the community (practitioners, clinicians, autistic people and family) WANT the research $$$ to be spent.

Community priories are “strikingly seldom prioritied in autism research”
Where we need to go-

“To move from science to practice, including evaluation and treatment, autism researchers need to find a way to select and fund studies of more mundane, but critical evidence gaps in understanding”
Researchers modelling autism in other species must focus on endophenotypes (motor delays) rather than the current focus on autism-related social communication symptoms seen in humans.

i.e stop measuring mouse-vocalisations and arse-sniffing and focus on measurable biology.
There is an acknowledgment that some people with autism see it as fundamental to their identity and do not want to be “cured” and a call for researchers to recognise this, use preferred terminology (autistic) and not make assumptions but instead listen.
Families remain the largest source of support for autistic people throughout their lives, and as such, do have a say, along with autistic people, in setting research priorities.
There is a lot more hard-core detailed genetics and brain stuff but this thread is meant to communicate the main points to the community here on Twitter.

These views are not mine.

That said, this was the best scientific paper I have read on autism.
Recognition that “autism” has been used to describe both a broader presentation as well as a specific medical diagnosis.

As well, they use the term “sensory-anomalies” instead of “sensory-deficits/disorders” 👍
Recognition that even in countries with strong autism public health policies, autism still goes largely unrecognised and untreated in adults.
What is often not said is that in monozygotic twins who BOTH have autism, presentation can vary considerably with one twin having normal IQ, no co-occurring conditions, and relatively good adaptive functioning and the other not.

Beware of twin studies.
The claims of recovery in autistic children given ABA remain unverified and unreplicated by empirical science.
Despite some claims to the contrary-

Infants who develop autism actually have normal profiles regarding interest in faces and eyes at 6months of age casting doubt on social orientation theories of autism.
Deterministic models of autism (a genetic change leads to a synaptic change which leads to autism) are likely wrong.

Rather, complex bi-directional developmental interactions between environment/genes/synaptic signalling etc. likely produce diverse autism phenotypes.
More than 100 genes and genomic regions have been confidently associated with autism. Many of these regions are shared with other neuro developmental disorders. Some of these genetic changes are small and some are large. Some are new (de novo). Some are inherited.
Most individuals who harbour a genetic risk for autism will never develop autistic traits or come to clinical attention.
Single gene or “monogenic” forms of autism account for less than 10% of cases, yet when they speak of “animal models of autism” they usually only include genes from this small pool.

Most animal studies don’t address the genetics of most autistic people AT ALL.
The increasing ability to detect gene mutations and intervene in utero means both monogenic and idiopathic (many gene) forms of autism will soon be targets for gene therapy.

Such therapies are supported more in the US than in other countries where they are more controversial.
There is evidence that autistic people show increased connectivity between sensory-motor areas of the brain and they show greater sensitivity to slightly aversive sounds and tactile information.
A big problem in research: the averaging of data across individuals.

Some more impacted autistics in a sample drags average down.

Published results make it seem like ALL autistic people can’t perform a task when in fact many CAN and some will perform it to a superior level.
Because of the heterogeneous nature of autism, averaging results when presenting data is ill-advised and leads to the masking of heterogeneity and differences across age-groups.

fMRI researchers in particular... take note!!!
The hypothesis that differences in auditory/visual processing may have a role in the development of autism has some evidence behind it, but further research is needed focussing on specific subgroups.

We must stop pooling heterogeneous populations into single studies.
There is evidence of excitation/inhibition imbalances in autism and alteration of large-scale functional interactions.

What this means, and how we might treat it - if indeed that’s what is desired - we as yet do not know.
Most adults presenting for an autism diagnosis have co-occurring mental health. As yet we do not have decent methods of assement that are capable of differentiation.

Relying on clinical opinion is not enough. We need proper methods to help clinicians accurately differentiate.
We do not understand why autistic people die early.

Some studies show autistic people more likely to be diagnosed with other health conditions such as immune, sleep disorders, obesity.

Yet some groups within the autistic population may not in fact have reduced lifespan at all
Regarding the theory that early intervention is critical because of increased brain-plasticity in the pre-school years -

“This theory has not yet been empirically supported”

🙌🙌🙌
The lives of autistic people in high-income countries are improving with more children using language, more adults with education and less institutionalisation.
The authors conclude-

“The distance between science and practice remains great, and the amount of research that attempts to address solvable problems for autistic people alive today and their families remains modest”

Thanks for listening all!

🙏🙏🙏🙏🙏🙏🙏🙏🙏🙏🙏🙏
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