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Comment by shakil | Hacker News Reader

So what is the author saying? That some forms of autism might be due to a cyst in the brain that affects the cerebellum and the vermis, and if you remove the cyst in early childhood, the patient would end up leading a mostly normal life, cured of their autism?

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Its possible that the cyst might worsen symptoms associated with an Autistic Spectrum Disorder, although treatment wouldn't completely cure the patient. There is an above average rate of Hydrocephalus [0], particularly Normal Pressure Hydrocephalus [1] (NPH) and other forms of Hydrocephalus, as well as Spina Bifida [2], associated with Autistic Spectrum Disorders.

The worst part is that moderately severe symptoms of NPH, including severe headaches can sometimes present similar to ASD in children.

There is some (but not conclusive) references in the medical journals.

[0] http://www.ncbi.nlm.nih.gov/pubmed/16502210

[1] https://en.wikipedia.org/wiki/Normal_pressure_hydrocephalus

[2] https://en.wikipedia.org/wiki/Spina_bifida

Disclaimer: I'm not a physician etc. although I did record dozens of EEGs on Autistic Spectrum Disorder patients

What disturbs me the most is: are we really not taking MRIs of most autistic patients? How come we don't have enough data to draw clear correlations?

I'm not a physician either, but it seems a perfectly valid, testable hypothesis that a cerebellar cyst is the cause of the author's brother condition, and this kind of malformation bears an impact on those conditions at large.

Definitely not. Ask most doctors if an MRI is warranted for an autism diagnosis and they'll laugh at you.

I don't see why laughter would be warranted for such a question. Yeah, MRIs are expensive, but wouldn't measurement of the brain's internals among those with autism be helpful in identifying the contributing factors and - maybe someday - a proper treatment?

You've proposed the reasonable step of using MRI to scan the brains of people with ASD diagnoses. That's already happening. We could probably do more of it. http://www.nhs.uk/news/2010/12December/Pages/new-brain-scan-...

http://autism-center.ucsd.edu/what-causes-autism/Pages/fmri....

Parent post is talking about scanning an individual. That's less useful. The second link I provide gives some reasoning: ASD is often suspected early. Many parents recognise somethings are different at about two years of age. You can't put an awake two year old in an MRI machine because you need the scanned person to stay still.

MRIs were certainly performed on autistic patients in order to determine that certain physical variations in brain structure are associated with autism. But if your goal is to diagnose autism, there are much cheaper (and more accurate) ways to do so, and if your goal is to treat it, the MRI results don't really inform your treatment options, so the consensus is probably that an MRI would be nothing more than an extremely expensive way to get a vague confirmation of the diagnosis.

(Of course, if the author's hypothesis is correct, that may be about to change.)

It seems that Dandy-Walker Syndrome is a known cause of some of the symptoms that show up in people on the Spectrum. i.e - there is an overlap. http://ghr.nlm.nih.gov/condition/dandy-walker-syndrome

And Dandy-Walker syndrome appears to be directly linked to Cyst growth and hence at least diagnosiable via MRI.

Dandy-Walker Syndrome is rare, though. MRI scanning all people diagnosed with autism just to check for it would be not be justified.

I imagine a study would be warranted, if one does not already exist. If a statistically significant link could be established, why not run tests? How much does it cost to have an MRI performed? How does it compare to the lifetime medical (and social) costs of an autism sufferer?

http://www.medifee.com/tests/mri-scan-cost/ in India. So to the tune of $200 max.

However in US it costs on average $3000 USD. :(

I'm just guessing here, but if even 1% of autism cases were caused by cysts or other treatable brain abnormalities, and hypothetical interventions had a 25% success rate, you'd end up spending $1.2M per case of autism cured (using the other poster's figure of $3K for an MRI scan). That seems well worth it to me. Certainly the cost delta between a functional member of society and someone that requires costly support their whole life is way more than $1.2M over a lifetime.

Of course this is like Drake's equation; taking an unknown and breaking it down into made-up numbers doesn't actually increase certainty, but fortunately, these numbers are a lot more knowable than the coefficients in Drake's equation. It's simply that I don't know them.

That's one possible conclusion. More broadly, the morphology of the cerebellum matters a great deal, and minute differences from person to person A) could explain why autism appears to have such a broad array of symptoms and severities; B) have been largely ignored by medicine for decades due to mistaken convention, deep confusion among physicians over medical terminology (mega cisterna magna versus DWV) and a tendency for doctors to throw their hands in the air the minute they hear "autism" because it's simply accepted that it's too complex to diagnose; and C) suggest that brain MRIs may be the most cost-effective cost-preventive diagnostic tool available for those with autism diagnoses--which doctors hardly ever recommend due to (B).

Why am I getting down voted? I'm just trying to understand the article. If you disagree with the article's conclusion, its the author's hypothesis not mine. He even cites cases of children whose cysts were surgically treated and now lead normal lives.

These were certainly important points of the article. However, it was a shotgun blast that covered much more, incompetent medical profession, inconsistent terminology causing confusion, stonewalls for patients diagnosed with autism, etc. it tried to capture too much in too little space.

I would think that someone would work to categorize variance in the physical and personality affects of autism... much like Myers-Briggs for personality in general. It seems to me that it should have been broken down into sub-categories (not as the article suggests in terms of cyst affect, but in terms of autism in general... they call it a spectrum, but really what is that spectrum and how is it defined. If different characteristic behaviors are given, why not just box them up in an N-by-N grid (max 4 options over 4 behaviors), which would help categorize.

I also feel that having some MRI development scans would definitely help with correlation of data here. No, not every case would be treated, but it certainly could get better in terms of diagnosis and being able to make predictions.

Imagine if all children were scanned at 6mo, 1yo and every other year until 18... that would be much more valuable data to humanity than some other uses of big data storage out there. In this case removing the cyst early might have helped... I don't think that would be the case most of the time... but by not having a better picture, it doesn't help.

We're in a first-world nation and outspend the rest of the world combined in our millitary... we really couldn't get a couple more MRI machines per hospital to handle the capacity? They don't all need to be high resolution scans to point to more information either.

I agree with the comments of many that this confuses and dillutes a few points... that said, it's not a medical paper, it's a blog article pointing out frustration in a lack of diagnostics that could help a lot of people.

> Imagine if all children were scanned at 6mo, 1yo and every other year until 18... that would be much more valuable data to humanity than some other uses of big data storage out there.

Imagine that instead, upon birth, all children had their entire genome sequenced and recorded. That would be a far greater use of big data storage.

Full genome sequencing costs a third of an MRI.

Yes, that's exactly the hypothesis the author is advocating.

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