Researchers have taken photographs of children’s retinas and screened them using a deep learning AI algorithm to diagnose autism with 100% accuracy. The findings support using AI as an objective screening tool for early diagnosis, especially when access to a specialist child psychiatrist is limited.
AI-screened eye pics diagnose childhood autism with 100% accuracy::undefined
It looks like the actual number of candidates were 958 and only 15% of that number were reserved for testing, the rest were used in AI training data. So in reality only 144 people were tested with the AI and there's no information from the article on how many people were formally diagnosed of this subset.
You can't just believe something because it's been peer-reviewed. It is an absolutely minimal requirement for credibility these days but the system does not work well at all.
In this case, the authors acknowledge the need for more studies to establish how generalisable their findings are. It's the first attempt at building a tool, it doesn't mean anything at all until the findings are reproduced by an independent group.
They do point to where the model was making its decision based off of, which was the optical disc, which they go over in the discussion with multiple previous studies showing biological differences between ASD and TD development.
You know, in the peer reviewed paper linked at the bottom of OP's article on it.
It’s apparently good at 100% at classifying autism in groups that have already been flagged for high chance of ASD. It is not good at just any old picture.
Retinal photographs of individuals with ASD were prospectively collected between April and October 2022, and those of age- and sex-matched individuals with TD were retrospectively collected between December 2007 and February 2023.
TD stands for "typical development."
So it correctly differentiated between children diagnosed with ASD and those without it with 100% accuracy.
The confounding factors are that they excluded children with ASD and other issues that might have muddied the waters, so it may not be 100% effective at distinguishing between all cases of ASD vs TD.
There's no reason to think that given a retinal photograph of someone who hasn't been diagnosed with ASD that it would fail to reject the diagnosis or confirm it if ASD was the only factor.
And this appears to be based on biological differences that have already been researched:
Considering that a positive correlation exists between retinal nerve fiber layer (RNFL) thickness and the optic disc area,32,33 previous studies that observed reduced RNFL thickness in ASD compared with TD14-16 support the notable role of the optic disc area in screening for ASD. Given that the retina can reflect structural brain alterations as they are embryonically and anatomically connected,12 this could be corroborated by evidence that brain abnormalities associated with visual pathways are observed in ASD. First, reduced cortical thickness of the occipital lobe was identified in ASD when adjusted for sex and intelligence quotient.34 Second, ASD was associated with slower development of fractional anisotropy in the sagittal stratum where the optic radiation passes through.35 Interestingly, structural and functional abnormalities of the visual cortex and retina have been observed in mice that carry mutations in ASD-associated genes
And given that the heat maps of what the model was using to differentiate were almost entirely the optical disc, I'm not sure why so many here are scoffing at this result.
It wasn't 100% at identifying severity or more nuanced differences, but was able to successfully identify whether the retinal image was from someone diagnosed with ASD or not with 100% success rate in the roughly 150 test images split between the two groups.
A convolutional neural network, a deep learning algorithm, was trained using 85% of the retinal images and symptom severity test scores to construct models to screen for ASD and ASD symptom severity. The remaining 15% of images were retained for testing.
It correctly identified 100% of the testing images. So it's accurate.
100% accuracy is troublesome. Literally statistics 101 stuff, they tell you in no uncertain terms, never, never trust 100% accuracy.
You can be certain to some value of p. That number is never 0. .001 is suspicious as fuck, but doable. .05 is great if you have a decent sample size.
They had fewer than 1000 participants.
I just don't trust it. Neither should they. Neither should you. Not at least until someone else recreates the experiments and also finds this AI to be 100% accurate.
Other aspects weren't 100%, such as identifying the severity (which was around 70%).
But if I gave a model pictures of dogs and traffic lights, I'd not at all be surprised if that model had a 100% success rate at determining if a test image was a dog or a traffic light.
And in the paper they discuss some of the prior research around biological differences between ASD and TD ocular development.
Replication would be nice and I'm a bit skeptical about their choice to use age-specific models given the sample size, but nothing about this so far seems particularly unlikely to continue to show similar results.
I'm honestly not sure if this whole thing is a good thing or a freaking scary thing.
At the back of the eye, the retina and the optic nerve connect at the optic disc. An extension of the central nervous system, the structure is a window into the brain and researchers have started capitalizing on their ability to easily and non-invasively access this body part to obtain important brain-related information.
Given that the retina can reflect structural brain alterations as they are embryonically and anatomically connected,12 this could be corroborated by evidence that brain abnormalities associated with visual pathways are observed in ASD.
TLDR: Abnormal developments in the brain that have visual components may closely correlate with abnormal developments in the eye.
We don’t know what they are identifying. We give it input and it gives output. What exactly is going on internally is a mystery.
Counterintuitively that's also where the benefit comes from.
The reason most AI is powerful isn't because its can think like humans, its because it doesn't. It makes associations that humans don't simply by consumption of massive amounts of data. We humans tell it "Here's a bajillion sample examples of X. Okay, got it? Good. Now here's 10 bajillion samples we don't know if they are X or not. What do you, AI, think?"
AI isn't really a causation machine, but instead a correlation machine. The AI output effectively says "This thing you gave me later has some similarities to the thing you gave me before. I don't know if the similarities mean anything, but they ARE similarities".
Its up to us humans to evaluate the answer AI gave us, and determine if the similarities it found are useful or just coincidental.
There was no notable decrease in the mean AUROC, even when 95% of the least important areas of the image – those not including the optic disc – were removed.
So we know that it relates to the optic disc.
Edit: Repeated in the conclusions of the study itself:
Our findings suggest that the optic disc area is crucial for differentiating between individuals with ASD and TD.
Edit 2: Which is given more background as to what may be going on and being picked up by the model:
Considering that a positive correlation exists between retinal nerve fiber layer (RNFL) thickness and the optic disc area,32,33 previous studies that observed reduced RNFL thickness in ASD compared with TD14-16 support the notable role of the optic disc area in screening for ASD. Given that the retina can reflect structural brain alterations as they are embryonically and anatomically connected,12 this could be corroborated by evidence that brain abnormalities associated with visual pathways are observed in ASD. First, reduced cortical thickness of the occipital lobe was identified in ASD when adjusted for sex and intelligence quotient.34 Second, ASD was associated with slower development of fractional anisotropy in the sagittal stratum where the optic radiation passes through.35 Interestingly, structural and functional abnormalities of the visual cortex and retina have been observed in mice that carry mutations in ASD-associated genes, including Fmr1, En2, and BTBR,36-38 supporting the idea that retinal alterations in ASD have their origins at a low level.
This is great. Article explains the method and sample size. This could be a great tool, and I hope it can be applied to any age. Many people who are on the spectrum and are high functioning can go most of their lives without a diagnosis while struggling to understand why the world feels so different to them.
Our sequential age-based modeling suggested that retinal photographs may serve as an objective screening tool starting at least at age 4 years. Moreover, the newborn retina continues to develop and mature up to age 4 years.44,45 Taken together, our models are potentially viable for screening children from this age onward, which is earlier than the average age of 60.48 months at ASD diagnosis.
This is particularly useful, since it would be easy to mass deploy. A quick photo, during a childhood checkup, and it can be easily checked. It doesn't need to be focused, so could catch a lot more, less obvious cases.
As an autistic myself, an early diagnosis would have potentially helped a lot. This would still be true of those who mask well.
Sensitivity or specificity? Sensitivity is easy, just say every person is positive and you'll find 100% of true positives. Specificity is the hard problem.