
First physiological test for autism proves high accuracy in second trial - just_saying_it
https://news.rpi.edu/content/2018/06/19/success-blood-test-autism-affirmed
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hhh
This is quite interesting. Being on the spectrum myself, and many of my
friends being so as well, it is very important how different everyone on the
spectrum truly is. For high functioning people like myself I see Autism more
akin to a mental super-power that can be crippled by small things. The
difference in thinking is magnificent, and it aids in my success in most
things that I do, but is an absolute disaster when it comes to socializing
with people near me. In a town of 300 people, there aren't really any tech
nerds or otherwise. Which makes socializing awkward since technology and game
are a massive portion of my life. Even to just go to the doctor the
interaction is anxiety inducing that my heart rate can raise by a good amount.
(I've seen 133 on a bad day, when normally I hang out around 100.) Having to
rely on analysis of people and memory of what people think is acceptable is
absolutely exhausting.

Having a clear test for autism is wonderful, but the spectrum is of infinite
width and infinite height.

~~~
keithnz
my son ( 7 ) is like this, his brain lets him do interesting things, like from
early on, you could hand him some paper and ask him to write things, then you
could rotate the paper any way you like and he'd just carry on writing so it
was fine when rotated back to normal. But he has a ton of trouble with
socializing and has never made a friend, he is also a super realist. He
doesn't like to pretend to be anything but himself. "If you could be an animal
what animal woruld you be? - Human Boy". Any suggestion to pretend to be
something else tends to be met with a reaction of "why on earth would I want
to be anything but who I am". Or even if you over emphasise something like
"Wow Ethan,you are super awesome" "no... I'm not awesome, I'm just normal"

~~~
hhh
It's quite interesting the differences. I wish you and your son the best of
times in the future.

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bcatanzaro
If this test becomes widespread, I'd love to take it. I bet many of us in the
tech industry have some sort of autism markers. It is a spectrum, after all.

~~~
sidlls
I doubt most (vast majority) have more than a statistically meaningless set of
any hypothetical autism markers. A predilection for technology, math or
science and social immaturity are commonly identified items techies use to
contend they "may" be on the spectrum, but the reality is even mild autism
includes so much more abnormality than that.

~~~
wst_
And yet tech hubs are crawling with people who are on the spectrum, and have
autistic children. Of course not everyone on the spectrum works in tech
industry and not working in tech is on the spectrum, but correlation can be
seen.

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scythe
Very surprising result. I don't think I've ever heard of a blood test for a
mental disorder -- at least, not one that actually works.

~~~
jmcgough
Be careful about that kind of wording. I and friends who're on the spectrum
don't consider it a "mental disorder". It's simply a physiological difference,
one that theoretically can be tested for.

~~~
cosmojg
Doesn't that reasoning apply to any disorder? Medically, a disorder is simply
"a disruption of normal physical or mental functions." So, having any disorder
makes one abnormal, unique, special, and possibly above average or below
average, but certainly not average.

"Disorder" and "special physiological difference" are synonyms.

~~~
gowld
Disorder is deviation from a declared healthy norm. "Difference" is more
symmetric.

A disorder is a condition that causes suffering.

~~~
antonvs
But that suffering may be the result of attempting to function in a system set
up for a different type of person. "Disorder" is, in many cases, a biased way
to look at it.

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wu-ikkyu
Perhaps I missed it, but I did not see anything about controlling for the
potential effects of those persons with ASD having taken drugs to mitigate
symptoms. Couldn't the biochemical effects of ASD drugs themselves be the
primary indicating factor? I've seen studies on biochemical indicators for
schizophrenia also make this same mistake.

~~~
himom
No, read the source article.

 _The validation data are taken at baseline from three previously published
studies investigating pharmaceutical interventions to normalize metabolic
abnormalities of children with ASD31: (1) a combination of methylcobalamin and
low dose folinic acid32, 33 (2) high dose folinic acid,34 and (3)
sapropternin.35 Given that these studies all focused on evaluating treatment
strategies for ASD, all participants had a confirmed diagnosis of ASD. FOCM
/TS metabolites were available for 154 (76% male) participants with ASD with a
mean age of 8.8 years (range 2–17 years). These ages are different than
reported by Delhey et al.34 because this study only required that measurements
be available at baseline, rather than both at baseline as well as the
conclusion of the treatment phase. Furthermore, stratifying patients by age or
gender did not reveal any differences in the univariate metabolite
distributions. The first two studies were approved by the IRB at the
University of Arkansas for Medical Sciences and the third study was approved
by the IRB at the University of Texas Health Science Center at Houston. All
parents gave written, signed consent and patients provided assent when
appropriate.

2.3 Metabolites

The metabolites under investigation are presented in Table 1 and additional
details of these measurements and derivations are presented in Melnyk, et
al.30 This is only a subset of the measurements investigated previously29
because “% DNA methylation” and “8‐OHG” were absent from the validation data
set and were therefore removed from this study to ensure that a consistent set
of metabolites are used for training and testing._

(Table 1 - 22 metabolic variables considered)

[https://onlinelibrary.wiley.com/doi/full/10.1002/btm2.10095](https://onlinelibrary.wiley.com/doi/full/10.1002/btm2.10095)

I’m curious if these metabolic abnormalities apply to adults as well. I had an
ADOS at the UCD MIND Institute come back with a 7 (1-14 scale IIRC) about 10
years ago.

PS: PKU treatment sapropterin (Kuvan) costs $100k USD/yr

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amelius
> Hahn said the difference between the original accuracy rate and that of the
> new study can likely be attributed to several factors, the most important
> being that two of the metabolites were unavailable in the second dataset.
> Each of the two metabolites had been strong indicators in the previous
> study.

Another issue could be overfitting.

~~~
BadCookie
It sounds like they were using leave-one-out cross validation. My machine
learning is a bit rusty, but I don't think that overfitting is the issue.

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amelius
Does this also work in reverse? I.e. take supplements/drugs until the test is
negative, and then be (temporarily) autism-free?

~~~
smt88
I don't know, but there's preliminary evidence that autism can be reversed by
dosing children with oxytocin and by using TMS on adults.

Because those approaches are considered to be fairly low-risk, I suspect
research will continue in those directions until they hit a wall of some kind.

~~~
magic_beans
What does it even mean to “reverse autism”?

~~~
smt88
Most famous example: [https://well.blogs.nytimes.com/2016/03/18/an-
experimental-au...](https://well.blogs.nytimes.com/2016/03/18/an-experimental-
autism-treatment-cost-me-my-marriage/)

It allows people to read faces and emotional context in a way they couldn't
before. Some people find that their decision-making becomes less logical and
more emotional. For others, nothing changes.

If you search "tms autism" there are other firsthand accounts that you might
find interesting.

~~~
amelius
Have there been any scientific experiments already to validate this method?

~~~
smt88
As of 2 years ago, there were more than a dozen clinical trials. Evidence is
preliminary -- populations are small, and measuring how autistic someone is is
not easy.

[https://www.autismspeaks.org/blog/2016/03/25/transcranial-
ma...](https://www.autismspeaks.org/blog/2016/03/25/transcranial-magnetic-
stimulation-autism-evidence-benefit)

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perl4ever
Does nobody care about specificity?

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robrenaud
Statistical reporting is often pretty frustrating.

> “We are able to predict with 88 percent accuracy whether children have
> autism,” said Juergen Hahn, lead author

> It is estimated that approximately 1.7 percent of all children are diagnosed
> with ASD
    
    
        def has_autism(child):
          return False
    

apparently has 98% accuracy.

~~~
icegreentea2
It's 88% correct classification on a validation data set consisting of 154
patients diagnosed with ASD. Their validation dataset did not contain a
"typically developing" population since there's only one dataset for that data
and it was consumed in their model generation. Their training data resulted in
a 5% misclassification rate of their controls - that is 5% of patients that
were not diagnosed with ASD in current tests would be classified as having ASD
in this scheme.

The full paper is here:
[https://onlinelibrary.wiley.com/doi/10.1002/btm2.10095](https://onlinelibrary.wiley.com/doi/10.1002/btm2.10095)

~~~
perl4ever
If you give the test to everyone, your results are:

~4.9% incorrectly diagnosed with autism (0.05 x .983)

~1.5% correctly diagnosed with autism (0.88 x 0.017)

Thus, 76% of those diagnosed would be diagnosed incorrectly.

~~~
alexandercrohde
That's true in a statistical sense. Or it's possible that the human-observers
are less accurate about autism than this brain scan.

It's unclear if those who have the odd brain structure but aren't diagnosed
are entirely asymptomatic.

Also they may be non-autistic in spite of this brain pattern, but nonetheless
have a genetic predisposition to pass it on. Big step.

~~~
perl4ever
It's not a genetic test, and it isn't a test for something that _defines_
autism, so you're begging the question IMO. Sure, human observers are
imperfect, but that doesn't mean you can choose an arbitrary test that is
precise and make it the standard just _because_. "We need something better
than human judgement, and this is _something_ , thus it is better"

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jeffdavis
Isn't it hard to define the accuracy without knowing more about the condition?

~~~
timb07
The generally accepted definition of autism spectrum disorder is that in
DSM-V. This physiological test is compared against ASD diagnoses based on
DSM-V, and based on that comparison, the accuracy of the test (for the given
sample tested) is calculated.

As more is known about the condition, the diagnostic criteria listed in the
DSM could be updated, which would mean that this test would then need to be
evaluated again. But that doesn't prevent its current accuracy being measured.

