When Burden Means Broken: The Quiet Harm of Autism Gene Scores
There’s a new autism genetics paper out of Slovakia. It doesn’t use the language of prevention. It doesn’t call for therapy. It doesn’t even mention interventions.
And yet, it reinforces the most dangerous idea in autism science: That the more different we are, the more broken we must be.
The paper, titled “Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia,” doesn’t set out to erase us. But it does something quieter — and just as corrosive. It takes autistic difference, quantifies it, and correlates it with how many rare DNA variants a child carries. Not to understand. Not to reframe. But to measure impairment.
In this study, 117 autistic children underwent whole-exome sequencing. The researchers calculated “burden scores” — tallies of rare genetic variants classified as pathogenic, likely pathogenic or even “uncertain significance.” Then, they mapped those scores against behavioral assessments, using tools like ADOS-2 and the Vineland Adaptive Behavior Scales.
Their headline finding?
Children with higher rare variant burden scored worse on socialization, daily living and “adaptive behavior.”
In other words: the more rare DNA quirks you carry, the worse your life must look.
What This Paper Gets Technically Right — and Ethically Wrong
The methods are clean. The sequencing is rigorous. The statistics are solid. This is not junk science.
But science isn’t neutral just because it’s careful. Especially not when it studies people — and only sees problems.
The authors say their goal is to explain phenotypic variability. But the entire study is built on a frame that equates that variability with dysfunction. It’s not a search for diversity — it’s a search for what went wrong and in whom.
And while the paper never utters the word “prevention,” it lays the foundation for it. If more genetic burden maps to more difference — and that difference is always framed as deficit — then the next step is obvious:
Identify high-burden kids early. And try to make them less autistic.
The researchers don’t say that. But they don’t have to. The logic speaks for itself.
The VUS Shell Game
Here’s something especially troubling: a huge portion of the correlation comes from variants of “uncertain significance” (VUS).
These are genetic changes we don’t fully understand yet — they might be benign, they might not. But this study treats them as partial evidence of damage.
The researchers even note that the burden score only predicts behavior when these uncertain variants are included.
So let’s be clear:
When you need uncertain data to prove a certain point, you’re not just describing reality. You’re reinforcing a worldview.
They acknowledge these variants may be benign — but still use them to strengthen a correlation between genetic burden and behavioral impairment. That decision isn’t neutral. It amplifies a narrative in which uncertain data supports a very certain view: more rare variants means more dysfunction.
One that treats autistic life as a spectrum of brokenness. Measurable. Traceable. Preventable — someday.
What’s Missing (Again)
- No autistic co-authors
- No quotes from autistic participants or families
- No reflection on the tools used — tools built to measure proximity to neurotypical norms
Just scores. Scans. Syndromes.
And a story that plays out like this:
- More rare variants = more “deficits”
- More “deficits” = worse outcomes
- Better outcomes = acting less autistic
There is no attempt to ask what adaptive behavior might mean within an autistic frame — or whether the tools used (Vineland, ADOS-2) can capture neurodivergent functioning outside a normed, non-autistic context.
And certainly no recognition that the very idea of “burden” might carry weight far beyond the genome.
What This Means for the Field
This study will be cited. It will be used in funding applications, early screening tools and possibly in prenatal contexts down the line. Not because the authors are malicious — but because the architecture of their work aligns perfectly with a system that already treats autism as tragedy.
This is how eugenics gets its polish.
It doesn’t arrive with slogans or sterilization programs. It arrives through clean language and correlation tables — through studies that call us burdens while pretending to just describe the data.
And unless we answer back, that story will keep getting told.
What Better Science Would Do
It’s not wrong to study autism genomics. But here’s what better science — human science — would include:
- Autistic researchers, not just autistic samples
- Measures of wellbeing, not just “functional deficits”
- An understanding that traits like sensory intensity, pattern-based cognition and non-normative social behavior aren’t malfunctions. They’re configurations
- And a refusal to equate difference with damage — especially in children who can’t yet speak for themselves
Final Thought
This paper doesn’t advocate for our disappearance. But it does something more insidious: it builds the framework where disappearance becomes an acceptable goal.
It’s not always the loudest studies that do the most harm. Sometimes it’s the quiet ones — the ones that sound neutral, cite the right databases and use “adaptive” as a synonym for “acceptable.”
So let’s say this clearly:
We are not your burden score We are not the sum of our variant points And we are not waiting for science to prove that we’re less
We’re here And we’re not broken
Want to cite the paper? Fine. But know what you’re really measuring. And what story your science is telling.