How Big Data Are Unlocking the Mysteries of Autism (scientificamerican.com) 68
Scientific American has published an opinion piece by the principle investigator for a project called SPARK, launched five years ago "to harness the power of big data by engaging hundreds of thousands of individuals with autism and their family members to participate in research."
The article calls autism "a remarkably heterogeneous disorder that affects more than five million Americans and has no FDA-approved treatments," arguing that the more people who participate in their research, "the deeper and richer these data sets become, catalyzing research that is expanding our knowledge of both biology and behavior to develop more precise approaches to medical and behavioral issues." SPARK is the world's largest autism research study to date with over 250,000 participants, more than 100,000 of whom have provided DNA samples through the simple act of spitting in a tube. We have generated genomic data that have been de-identified and made available to qualified researchers. SPARK has itself been able to analyze 19,000 genes to find possible connections to autism; worked with 31 of the nation's leading medical schools and autism research centers; and helped thousands of participating families enroll in nearly 100 additional autism research studies.
Genetic research has taught us that what we commonly call autism is actually a spectrum of hundreds of conditions that vary widely among adults and children. Across this spectrum, individuals share core symptoms and challenges with social interaction, restricted interests and/or repetitive behaviors. We now know that genes play a central role in the causes of these "autisms," which are the result of genetic changes in combination with other causes including prenatal factors. To date, research employing data science and machine learning has identified approximately 150 genes related to autism, but suggests there may be as many as 500 or more...
But in order to get answers faster and be certain of these results, SPARK and our research partners need a huge sample size: "bigger data." To ensure an accurate inventory of all the major genetic contributors, and learn if and how different genetic variants contribute to autistic behaviors, we need not only the largest but also the most diverse group of participants. The genetic, medical and behavioral data SPARK collects from people with autism and their families is rich in detail and can be leveraged by many different investigators. Access to rich data sets draws talented scientists to the field of autism science to develop new methods of finding patterns in the data, better predicting associated behavioral and medical issues, and, perhaps, identifying more effective supports and treatments...
We know that big data, with each person representing their unique profile of someone impacted by autism, will lead to many of the answers we seek.
The article calls autism "a remarkably heterogeneous disorder that affects more than five million Americans and has no FDA-approved treatments," arguing that the more people who participate in their research, "the deeper and richer these data sets become, catalyzing research that is expanding our knowledge of both biology and behavior to develop more precise approaches to medical and behavioral issues." SPARK is the world's largest autism research study to date with over 250,000 participants, more than 100,000 of whom have provided DNA samples through the simple act of spitting in a tube. We have generated genomic data that have been de-identified and made available to qualified researchers. SPARK has itself been able to analyze 19,000 genes to find possible connections to autism; worked with 31 of the nation's leading medical schools and autism research centers; and helped thousands of participating families enroll in nearly 100 additional autism research studies.
Genetic research has taught us that what we commonly call autism is actually a spectrum of hundreds of conditions that vary widely among adults and children. Across this spectrum, individuals share core symptoms and challenges with social interaction, restricted interests and/or repetitive behaviors. We now know that genes play a central role in the causes of these "autisms," which are the result of genetic changes in combination with other causes including prenatal factors. To date, research employing data science and machine learning has identified approximately 150 genes related to autism, but suggests there may be as many as 500 or more...
But in order to get answers faster and be certain of these results, SPARK and our research partners need a huge sample size: "bigger data." To ensure an accurate inventory of all the major genetic contributors, and learn if and how different genetic variants contribute to autistic behaviors, we need not only the largest but also the most diverse group of participants. The genetic, medical and behavioral data SPARK collects from people with autism and their families is rich in detail and can be leveraged by many different investigators. Access to rich data sets draws talented scientists to the field of autism science to develop new methods of finding patterns in the data, better predicting associated behavioral and medical issues, and, perhaps, identifying more effective supports and treatments...
We know that big data, with each person representing their unique profile of someone impacted by autism, will lead to many of the answers we seek.
The mysteries of the difference between (Score:4, Funny)
principle and principal still elude Big Editor at Slashdot.
Jesus Christ.
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You sound triggered.
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LOL, you're pitiable.
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So like the kids say: Thanks captain obvious!
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Not having an editor is more profitable because you get more traffic from morons like you that start threads like this.
Re:The mysteries of the difference between (Score:4, Funny)
The fact that the error can be corrected that easily is proof enough that from within the context the meaning was clear enough to understand what was being expressed.
So like the kids say: Thanks captain obvious!
Give your wife a Valentine's day card with "Dear (her best friend's name)" on it.
Then tell her it's OK because "within the context the meaning was clear enough to understand what was being expressed."
Re: The mysteries of the difference between (Score:2)
ROFL :-)
Re:The mysteries of the difference between (Score:5, Funny)
I see most of the comments on this story are about a spelling mistake.
If SPARK are looking for some more autistic people for their study, I'm sure Slashdot could supply all the subjects they need :)
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They will probably develop a vaccine to prevent it (Score:1, Offtopic)
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Same guy? still triggered?
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No one fucking cares, get a life.
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Although vaccines do cause yelling on the internet, autism isn't the mediating factor there. Just garden-variety retardation. The one-in-three, not the one-in-thirty.
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Is (Score:5, Interesting)
Mod parent up (Score:2)
This is hands down the best treatise on this particular subject I've ever seen. I've already said my "data is/datums are" piece in this thread or I would.
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That God, I felt I was alone in this world. It really fucking annoys me when people make a big show of being precise about the allegedly plural only "data". I immediately think "this person is a chode" if they say "the data show" or "the data are".
Nah. Fuck that noise. Even without the treatise in the GP (which I bookmarked) common usage is what matters. Nobody but dildos uses data as a plural. As any non-idiot knows, English changes. The majority wins. And my argument used to always be that, and to tell pe
"big" (Score:2)
If you have 19,000 genes you are examining, then with only 100,000 samples, you are going to run into the jelly bean effect [xkcd.com].
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The word has even made it onto Last Week Tonight, which has some of those most prominent clips available on youtube for a wide audience. https://www.youtube.com/watch?... [youtube.com] (has had 17 million views so far)
Or if you want to hear it from someone who understands it and isn't just repeating what their research teams told them -- Veritasium: https://www.youtube.com/watch?... [youtube.com]
That being said, in these 'softer sciences' you often have to start with some bad science, which can then over the time be r
How many Big Datas though? (Score:3, Insightful)
Say what? Big Data are?
How many Big Datas?
Sorry, but cake is delicious. Cakes are delicious.
I can't stand this referring to "Big Data". in the plural. It's not countable, and therefore should not be referred to in the plural.
"Big Data are" is just... wrong, and it's like a splinter in my brain.
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The word "datum" is singular, "data" are plural if we go back to the Latin roots. Sorting out whether people mean all of the data, or a particular set of data, can be very awkward.
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And interestingly, I recently learned that "agenda" was originally the plural of "agendum".
But I still argue that "data" is plural and "datum" is singular. So, data is, but datums are.
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Oops - data is collective - like cake is.
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That's not a helpful example, because cake can be used countably ("I bought two apple pies and three banana cakes") or non-countably ("I would prefer some pie, but if there's none left I'll have some cake").
Re: How many Big Datas though? (Score:2)
Isn't 'Data' entirely different from 'Big Data' which is just the name given to a field / vertical / system, like Physics.
So Big Data is interesting like Physics is interesting. Not Big Data are interesting.
And we dont have anything called Big Datum
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> But I still argue that "data" is plural and "datum" is singular. So, data is, but datums are.
An egg is. Two eggs are. A dozen eggs... would depend on the speaker's idiom.
Scientific American isn’t relevant (Score:4, Insightful)
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Translation: Scientific American stopped being relevant when they started endorsing the president I voted against.
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You are actually repeating cognitive distortion of SJWs who dismiss a story because it's Breitbart. Who cares about Scientific American, is Big Data approach to autism good or is it no?
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Scientific American stopped being relevant when they started endorsing presidents.
Spreading covid-19 and acting like a jackass is not the sign of someone who is presidential material.
Scientific american was well with in their rights to express their politics because it was backed up by informed scientific opinion. It wasn't some knee jerk reaction, they thought they were doing what was best to limit future deaths. So yes, when a president is clearly mishandling the pandemic I think people have a right to vote against that president especially when their are peoples lives on the line.
The Square Root of 906.01 (Score:2)
is 30.1.
It all seemed harmless.
Yay but nay (Score:4, Insightful)
As an autist who right now is struggling with stress overload I would be VERY happy if we started understanding autism better.
Not to make it go away, mind you. My autism has some perks I'd sorely miss. I'd love to have a way to better manage it though so I don't have to run my life and family on empty batteries constantly...
I am in the process of getting diagnosed right now and one thing is exceptionally obvious: This is a guessing game. I am pretty sure that I am an autist because I share so many mannerisms with other autists... some self-diagnosed, some with an actual professional diagnosis.
The questionnaires I have received to fill out are pretty easy to game. The questions that go for autism are obvious. So we have several issues with the diagnosis of autism. It can be gamed. The questions very often pertain to childhood because it can be exceptionally hard to diagnose an adult with autism because they have perfected their masks and, women often more so than men, will rather die than drop their mask. So some people subconsciously will hide their autism during diagnosis... and it's quite hard to remember childhood objectively and not applying current believes and hopes and transforming your memories to fit.
So it can be hard to actually SEE the autist and I'm certain some "autists"are just the equivalent of "transgenders"who imagine some of their normal quirks making them something special or are just looking for sympathy because they're having a hard time with life and just can't accept that they need to git gud. (I'm not blaming them here by the way. Life IS suffering and our generation has had shit parents because their parents were shit, because their parents were shit and so on... So many of us have not been given a good foundation on how to deal with existence, I feel. Though it might just be me ;)).
So I'm wondering... how many false positives will be in these samples? Do they have ways to correct for them considering this seems to be the first big push into actually finding the genes that cause autism?
With covid it was rather easy, you could measure the presence of a virus... and even though that is not completely save from being misinterpreted, this project seems to have WAY bigger hurdles to overcome in order to get clean data. I'm wondering how they plan to do it.
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Namely "working memory" and "processing speed" can see a notable drop compared to other scales like spatial or verbal reasoning.
This together with self reports, reports from people who have known you since childhood, stuff like school report cards, and clinical observation by trained professionals all combine in a more comprehensive picture
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So far, I've not encountered an intelligence test. Granted, I'm not all that far along in my diagnosis.
What I'm trying to say is what remains is a vague method of diagnosing people with a situation (I'm not quite ready to call it a sickness) with this broad a profile.
I mean where exactly does one draw the line between a quirk like not stepping on a crack in the pavement, OCD like REALLY not liking to step on a crack in the pavement and a compulsive act of rather pulling your eye out with a spoon rather than
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So if you do not like to step on cracks in the pavement, and all that happens there is perhaps that people give you some weird looks, if that doesn't bother you, there's no issue. But if you were to frequently bump into people, hurting them and yourself, it starts to become an issue.
If you say that this behaviour bothers you and that it dr
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The questionnaires I have received to fill out are pretty easy to game.
That is strange. I knew they would test me for autism, and my IQ is +140 so I should be able to game these tests right? Yet I fell into every autism trap they had.
Maybe it depends on how good the test takers are, mine were doing this full time for years.
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the diagnosis of autism. It can be gamed
Not easily, if the professionals doing the diagnosis are any good.
My diagnosis included multiple things that they didn't tell me they were testing, and on the tests they didn't tell me what they were looking for, and I didn't know in advance what the tests were.
That means that I couldn't game it - if I'd tried I'd have deviated from the diagnosis.
how many false positives will be in these samples?
Basically that comes down to how many people were properly diagnosed and how many self-identified. I'd eliminate all of the self-identified group or explicitly sep
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Understand this. (Score:3)
According to my MIL the biggest cause of meltdowns in autistic children is disrespecting their boundaries and limits, as autistic people can feel as though they are under constant attack. And we all know how bad adults are at not respecting the limits and boundaries of children.
In my eyes, if you scream at, hit, or otherwise harass an autist having a meltdown, you are a bigot, a total piece of shit, and have committed a hate crime.
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I want you to spend the next hour or so reading up on discrimination against the following groups: Intersex people, adopted people, people in cross-racial marriages, people in cross-racial adoptions, deaf people, people with hormonal disorders, people who cannot/will not have children, and childless marriages, and maybe once you get what my wife and I have to deal with we can talk about where the hell people are when we need help.
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Nowhere. That's the whole point. People are way busy with their own crap.
I have hit my children a couple of times. I am not proud of it and I did manage to overcome this stress reaction. That being said, I don't need some asshat on the internet telling me what a bad person I am for doing it. You managed to do better? Grand! Be happy for that instead of being an additional burden to others.
Most people who hit their kids know that it's not good no matter what excuses they offer that is supposed to to make the
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Wow, me marrying an adopted woman with a disability is a "laundry list of wokeness", and that's coming from a literal child beater.
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They need to differentiate fashion autism out. (Score:2)
I know a teenager who started wearing fashion glasses. Literally just glasses with plain glass for lenses so it looked like he was wearing glasses, for the looks.
We also have fashion autism running around, especially on Twitter. I don't know why but along with ADHD a lot of people seem to think it makes them more fascinating to be mildly autistic. Apparently it has a certain cachet, and they like to use terms like "neuroatypical" or "neurodiverse" to really spice it up and make themselves sound special.
Most
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ASD is gut bacteria driven (Score:1)