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In my previous post I wrote about how we think about and talk about autism spectrum disorder (ASD), and how RFK Jr misunderstands and exploits this complexity to weave his anti-vaccine crank narrative. There is also another challenge in the conversation about autism, which exists for many diagnoses – how do we talk about it in a way that is scientifically accurate, useful, and yet not needlessly stigmatizing or negative? A recent NYT op-ed by a parent of a child with profound autism had this to say:

“Many advocacy groups focus so much on acceptance, inclusion and celebrating neurodiversity that it can feel as if they are avoiding uncomfortable truths about children like mine. Parents are encouraged not to use words like “severe,” “profound” or even “Level 3” to describe our child’s autism; we’re told those terms are stigmatizing and we should instead speak of “high support needs.” A Harvard-affiliated research center halted a panel on autism awareness in 2022 after students claimed that the panel’s language about treating autism was “toxic.” A student petition circulated on Change.org said that autism ‘is not an illness or disease and, most importantly, it is not inherently negative.'”

I’m afraid there is no clean answer here, there are just tradeoffs. Let’s look at this question (essentially, how do we label ASD) from two basic perspectives – scientific and cultural. You may think that a purely scientific approach would be easier and result in a clear answer, but that is not the case. While science strives to be objective, the universe is really complex, and our attempts at making it understandable and manageable through categorization involve subjective choices and tradeoffs. As a physician I have had to become comfortable with this reality. Diagnoses are often squirrelly things.

When the profession creates or modifies a diagnosis, this is really a type of categorization. There are different criteria that we could potentially use to define a diagnostic label or category. We could use clinical criteria – what are the signs, symptoms, demographics, and natural history of the diagnosis in question? This is often where diagnoses begin their lives, as a pure description of what is being seen in the clinic. Clinical entities almost always present as a range of characteristics, because people are different and even specific diseases will manifest differently. The question then becomes – are we looking at one disease, multiple diseases, variations on a theme, or completely different processes that just overlap in the signs and symptoms they cause. This leads to the infamous “lumper vs splitter” debate – do we tend to lump similar entities together in big categories or split everything up into very specific entities, based on even tiny differences?

The more we learn about these burgeoning diagnoses the more the diagnostic criteria might shift away from a purely clinical descriptive one. Perhaps we find some laboratory marker (such as a result on a blood test, or finding on an MRI scan of the brain). What if that marker has an 80% correlation to the clinical syndrome? How do we use that as a diagnostic criterion? The more we learn about pathophysiology, the more these specific biological factors become part of the diagnosis. Sometimes this leads to discrete diagnoses – such as when it is discovered that a specific genetic mutation causes a specific disease. The mutation becomes the diagnosis. But that is often not the case. The game changes again when treatments become available, then diagnostic criteria tends to shift toward those that predict response to treatment.

One question, therefore, when determining the best way to establish a specific diagnostic label is – what is your purpose? You might need a meaningful label that helps guide and discuss basic science research into underlying phenomena. You may need a diagnosis that helps predict natural history (prognosis), or that guides treatment, or you may need a box to check on the billing form for insurance, or you may need a diagnosis as a regulatory entity (for FDA approval for a drug, say).

ASD has many of these issues. Researchers like the spectrum approach because they see ASD as different manifestations of one type of underlying neurological phenomenon. There are many genes involved, and changes to the pattern of connectivity among brain cells. Clinicians may find this lumper approach a double-edged sword. It may help if there is a single diagnostic approach – scoring on standardized tests of cognitive, motor, language and social functioning, for example. But it also causes confusion because one label can mean such dramatically different things clinically. The diagnosis is also now often attached to services, so there is a very practical aspect to it (and one major reason why the diagnosis has increased in recent years – it gets you services that a less specific diagnosis might not).

Now let’s go to the social approach to the ASD diagnosis. The purely scientific approach is not clean because “science” can refer to basic science or clinical science, and the clinical side can have multiple different approaches. This means science cannot currently solve all the disputes over how the ASD diagnosis is made and used in our society. It’s ambiguous. One aspect of the debate is whether or not ASD should be considered a disease, a disorder, or just a spectrum of natural variation within the human species. Anti-vaxxers want to see is as a disease, something to be prevented and cured. This approach also tends to align better with the more disabled end of the spectrum. At the high functioning end of the spectrum, the preference is to look at ASD as simply atypical, and not inherently inferior or worse than neurotypicals. The increased challenges of being autistic are really artificially created by a society dominated by neurotypicals. There are also in fact advantages to being neuroatypical in certain areas, such as jobs like coding and engineering. Highly sociable people have their challenges as well.

Here’s the thing – I think both of these approaches can be meaningful and useful at the same time. First, I don’t think we should shy away from terms like “profound” or “severe”. This is how neuroscience generally works. Everyone does and should have some level of anxiety, for example. Anxiety is adaptive. But some people have “severe” anxiety – anxiety that takes on a life of its own, or transitions from being adaptive to maladaptive. I don’t want to minimize the language debate. Words matter. Sometimes we just don’t have the words that mean exactly what we need them to mean, without unwanted connotations. We need a word that can express the spectrum without unwanted assumptions or judgement. How about “extreme”? Extreme does not imply bad. You can be extremely athletic, and no one would think that is a negative thing. Even if autism is just atypical, being extremely autistic implies you are at one end of the spectrum.

Also, as with anxiety, optimal function is often a mean between two extremes. No anxiety means you take unnecessary risks. Too much anxiety can be crippling. Having mildly autistic features may just represent a different set of neurological tradeoffs, with some advantages and some challenges, and because it is atypical some accommodation in a society not optimized for this type. But as the features get more extreme, the downsides become increasingly challenging until you have a severe disability.

This reminds me also of paranoia. A little bit of paranoia can be seen as typical, healthy, and adaptive. A complete absence of any suspiciousness might make someone naive and vulnerable. People with above average paranoia might not even warrant a diagnosis – that is just a personality type, with strengths and weaknesses. But the more extreme you get, the more maladaptive it becomes. At the extreme end it is a criterion for schizophrenia.

Or perhaps this is all just too complex for the public-facing side of this diagnosis (regulation, public education, etc). Perhaps we need to become splitters, and break ASD up into three or more different labels. Researchers can still have and use a technical category name that recognizes an underlying neurological commonality, but that does not need to be inflicted on the public and cause confusion. Again – there is no objective right or wrong here, just different choices. As I think I amply demonstrated in my prior post, using one label (autism) causes a great deal of confusion and can be exploited by cranks. What often happens, though, is that different groups make up the labels for their own purposes. When researchers make the labels, they favor technical basic-science criteria. When clinicians do, they favor clinical criteria. When regulators do, they want nice clean categories.

Sometimes all these levels play nicely together. With ASD I feels as if they are in conflict, with the more research-based labels holding sway and causing confusion for everyone else.

At the same time there is a conflict between not imposing inaccurate and unnecessary judgement on a label like autism, while at the same time recognizing that can come with its own challenges that need just awareness at the mildest end of the spectrum, accommodation for those who experience challenges and have needs, and then actual treatment (if possible) at the more extreme end. These do not need to be mutually exclusive.

I do think we are evolving in a good direction, with more thoughtful diagnostic labels that explicitly serve a purpose without unnecessary assumptions or judgement. We may not be entirely there yet, but it’s a great conversation to have.

The post The Other End of the Autism Spectrum first appeared on NeuroLogica Blog.

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The post Goodbye to the Novavax Vaccine? Our Flailing Medical Establishment Rejects Medical Freedom and Refuses to Fund Gold-Standard Science. first appeared on Science-Based Medicine.

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