6 ms·

Identifying Autism from Neural Representations of Social Interactions

55 points by WhitneyLand 12y ago

iandanforth 12y ago
Is autism hard to diagnose? It seems that if anything the important thing about this study is the factors it discovered that allowed the populations to be separable.
- mikecb 12y ago
  The purpose of this study would seem to be more to validate the utility and/or robustness of fMRI than a novel diagnosis scheme for Autism.
  - Toenex 12y ago
    I've not read the paper fully but it does look an interesting piece of work. I did notice that the controls were aged and IQ matched which doesn't suggest they we looking to differentially diagnose Autism from other disorders which is likely to be the more useful clinical technique. Also, the subjects were adult and I would expect most diagnosis to be performed in a much younger age group. This isn't the first attempt to apply fMRI techniques to the understanding of autism, plenty of prior work here (http://goo.gl/oW41Vm http://goo.gl/oW41Vm). Earlier in my career I did some fMRI and, whilst an interesting technique, I've never been convinced that it quite delivers on the claims. Firstly, you aren't looking at an electrical signal but rather changes in blood flow which are (reasonably) assumed to be coupled with areas of increased neural activity. This felt to me a bit like trying to debug a computer program by pointing a heat sensitive camera at your motherboard. Also all fMRI experiments are characterised by a block design - periods of activation and inactivation - and the response is expected to correlate with these in some way. However, the brain is pretty busy and thus how does one select a baseline; what about the parts of the brain that just stay on?
    - Houshalter 12y ago
      >Earlier in my career I did some fMRI and, whilst an interesting technique, I've never been convinced that it quite delivers on the claims. Firstly, you aren't looking at an electrical signal but rather changes in blood flow which are (reasonably) assumed to be coupled with areas of increased neural activity. This felt to me a bit like trying to debug a computer program by pointing a heat sensitive camera at your motherboard. It's pretty crude but it works. fMRI has been useful for a ton of things, it's even possible to read people's minds with it (from seeing what words they are thinking to an entire video reconstruction.)
- duaneb 12y ago
  Autism actually can be hard to diagnose, as there are many different flavors of symptoms. This should be read as more of a machine learning exercise in attributes (so yes, you're correct), not as a medical breakthrough.
- splinterofchaos 12y ago
  There exist very accurate tests for autism, but /getting/ a diagnosis can be difficult. A teacher spotted autistic symptoms in me back when I was ten and recommended I get tested. It wasn't until three years later that a couple thousand dollars got taken out of my college fund and I received a day's trial of tests to determine that I have it. Insurance did not cover the procedure. Now-a-days, people have more understanding and awareness (this was a little over ten years ago), but it is still an expensive procedure, involving many specialists of different areas, sometimes neurologists and brain scans.
hoopism 12y ago
There's a saying among those who become familiar with Autism. "If you've met one kid with Autism, you've met one kid with Autism" There are certainly clear cases... but the trouble is identifying the non-traditional and less severe cases. These methods are great, but with early intervention being so critical it's doesn't help with diagnosing younger children (from what I read... seems patient would need more cognitive ability). As a parent who has recently run the gauntlet of diagnosis the most frustrating part of the lack of awareness for younger children. Based on all my reading early intervention can have a tremendous impact of future outcome (before 3y/o is really the sweet spot). There's so much stigma on classifying young children early that parents are often reluctant to seek out diagnosis and treatment. My daughter was diagnosed at 15 months and has since made amazing strides. If there was one thing I wish I could pass on to every parent it's that there is absolutely no harm or shame in doing diligence if you feel something isn't right. Therapies are play based and are great for even nuerotypical kids. If you suspect a delay or risk... talk to a specialist ASAP.
- aidos 12y ago
  This is very good advice. My wife is an Early Years Speech and Language therapist, so she is regularly exposed to children with autism. Your daughter is lucky to have a proactive parent. Even when cases are identified within the system, by nursery staff for example, it seems to be more common than not that parents become very defensive about the idea of seeking further help. And actually, as a parent, I can understand it - but having seen first hand the difference professional help can make, especially in those early years, I would do everything in my power to get expert advice. In the UK we have the NHS, and even though the waiting lists can be long (because these are the areas that tend to be the first to go during budget cuts), help is freely available. And it's not just autism we're talking about. There could be all manner of things that can contribute to a delay in those early years. There are people who can literally make the world of difference to the rest of child's future, and they really want to help.
  - hoopism 12y ago
    In Massachusetts, and many other state, there is free therapy available to children under 3. That applies to any developmental delay. I encourage any parent to make full use of these resources. Having experienced them first hand it's been nothing but positive.
valdiorn 12y ago
Sensitivity and specificity! That title is a bit misleading :) I too could write a test that identifies autism 97% of the time: return Random.Get(0, 100) < 97;
- nicklo 12y ago
  Yeah I wonder what the false positive rate is. Didn't see any mention of it though.
  - duwease 12y ago
    I think it's just the headline that's misleading, the abstract says quite clearly: "Moreover, machine learning algorithms classified individuals as autistic or control with 97% accuracy from their fMRI neurocognitive markers." The "or control" doesn't tell you exactly what the false positive rate is, but at least it sets the upper bound at 3%.
    - arjie 12y ago
      No reason to reverse engineer. The paper has all the information you need. One false negative in the cross validation. No false positives.
- arjie 12y ago
  What they did is take a control group that's the same size of the autism group. Then they did what's called leave-one-out cross-validation (which is exactly what it says, train on the entire set leaving one out, then use that one for validation and do so all ways). The measure they chose (Accuracy) is not without its flaws, but it would not be susceptible to the one you mention. For instance, if you took 100 negative and 100 positive and then ran your test, you'd expect an accuracy of something a little more than 50%.
  - cbhl 12y ago
    Under this methodology, how meaningful would having more data points be with respect to statistical meaningfulness? The study only appears to use 17 people in each group (for a total of 34 people).
forrestthewoods 12y ago
As if autism is a "thing" that you "have". HIV is a thing that you can have. We check your blood and say "yup, you got HIV in there" or "nope, you're clean". Autism, like many terms, isn't a thing. It isn't even a state. It's a description of a state. But it's not a complete description of that state. It's really just a loose description of part of a state. Every case is different. Every autistic person is unique.
- harperlee 12y ago
  If it is useful, I don't know a lot about autism, and for me your comment is super cryptic. What are you trying to say? Isn't autism sort of a dimension? I've heard about "the autist spectre", and the prevalence in males, and that's the idea that I got.
  - pavel_lishin 12y ago
    "The Autist Spectre" sounds a little like "The Holy Spirit". Did you mean "autism spectrum"?
    - harperlee 12y ago
      Yes, sorry for that :) not being a native english speaker, I sort-of translated it (I guess I haven't seen it in english a lot).
  - VLM 12y ago
    That would be "spectrum" as its quite smooth and analog. Unlike a medical condition like a broken bone where you either got two pieces or one and in between is kind of unlikely. Historically no test existed other than behavior observations. Oh look a cluster of behaviors, we'll call it a disease. That leads to some severe cultural problems like just medicating the hell out of people until their vegetate. Not a very nice thing to do. The highest functioning people aka closest to normal (whatever normal is...) tend to not appreciate being drugged into submission, eliminating any chance of higher level human functioning. (edited to emphasis the side effects of most medications for autism symptoms tend to be intensely punishing both physically and mentally) Its rather like obesity, there's quite a range and how much someone has and how much someone needs to be forcibly "fixed" is open to quite a bit of opinion. OP is correct in that they selected a group of very high functioning people and controls, so what if anything that would have to do with low functioning people is mysterious and its quite possible they have little in common other than symptoms / behaviors. So saying "we can detect autism" is kind of like saying "we can fix broken computers". Well, define broken computers narrowly enough and ... On the other hand OP may not have read the article because OP is claiming "we can't" and similar, when "we now can". At least in a highly restricted setting with specially selected test subjects. It does not appear to be a magic bullet along the lines of a glucose tolerance test being pretty effective at diagnosing diabetes.
deleted 12y ago
[deleted]
pg_is_a_butt 12y ago
if vaccinated: return true;
Asparagirl 12y ago
I would be careful reading too much into one study. If you read their Methods section, you can see that they only picked adults with "high-functioning autism" which is so loosely defined as to be meaningless. Is it supposed to represent Vineland scores, or ADOS scores, or IQ, or "doesn't live in Mom's basement", or what? But if you see that they also cut anyone from the study that has a family history of autism (even though autism is highly heritable), cut anyone with developmental delays (and almost all people with autism have or had delays in some realm, from speech to fine motor), cut anyone with anxiety disorder (extremely common in autistic people), then really you're left with probably a bunch of almost-entirely-guys with what used to be called Asperger's and is today (well, as of DSM-5) lumped back in with autism the broader category, for better or for worse. Point being, be careful not to think this is a representative sample of a big, big category. All that being said, I would love to see how these results stack up against another recent project based in San Francisco at UCSF that is doing fMRI scans of kids (not adults) with sensory processing disorder (SPD) but who do NOT have autism. The project's lead, Dr. Elsya Marco at UCSF, is studying something similar: biological evidence of SPD and how it can be distinguished on scans from autism. The two disorders often go together, but she's trying to tease apart why some people are hypersensitive to sensory stimuli and yet DON'T have autism. Study info: http://www.ucsf.edu/news/2013/07/107316/breakthrough-study-reveals-biological-basis-sensory-processing-disorders-kidsi http://www.ucsf.edu/news/2013/07/107316/breakthrough-study-r... And they're crowdfunding right now to raise money to do a bigger sample size for the fMRI scans: https://crowdfund.ucsf.edu/project/53f230b014bdf718b0b2608d https://crowdfund.ucsf.edu/project/53f230b014bdf718b0b2608d (Each brain scan they do costs $550.)

55 points by WhitneyLand 12y ago

Is autism hard to diagnose? It seems that if anything the important thing about this study is the factors it discovered that allowed the populations to be separable.

mikecb 12y ago
The purpose of this study would seem to be more to validate the utility and/or robustness of fMRI than a novel diagnosis scheme for Autism.
- Toenex 12y ago
  I've not read the paper fully but it does look an interesting piece of work. I did notice that the controls were aged and IQ matched which doesn't suggest they we looking to differentially diagnose Autism from other disorders which is likely to be the more useful clinical technique. Also, the subjects were adult and I would expect most diagnosis to be performed in a much younger age group. This isn't the first attempt to apply fMRI techniques to the understanding of autism, plenty of prior work here (http://goo.gl/oW41Vm http://goo.gl/oW41Vm). Earlier in my career I did some fMRI and, whilst an interesting technique, I've never been convinced that it quite delivers on the claims. Firstly, you aren't looking at an electrical signal but rather changes in blood flow which are (reasonably) assumed to be coupled with areas of increased neural activity. This felt to me a bit like trying to debug a computer program by pointing a heat sensitive camera at your motherboard. Also all fMRI experiments are characterised by a block design - periods of activation and inactivation - and the response is expected to correlate with these in some way. However, the brain is pretty busy and thus how does one select a baseline; what about the parts of the brain that just stay on?
  - Houshalter 12y ago
    >Earlier in my career I did some fMRI and, whilst an interesting technique, I've never been convinced that it quite delivers on the claims. Firstly, you aren't looking at an electrical signal but rather changes in blood flow which are (reasonably) assumed to be coupled with areas of increased neural activity. This felt to me a bit like trying to debug a computer program by pointing a heat sensitive camera at your motherboard. It's pretty crude but it works. fMRI has been useful for a ton of things, it's even possible to read people's minds with it (from seeing what words they are thinking to an entire video reconstruction.)
duaneb 12y ago
Autism actually can be hard to diagnose, as there are many different flavors of symptoms. This should be read as more of a machine learning exercise in attributes (so yes, you're correct), not as a medical breakthrough.
splinterofchaos 12y ago
There exist very accurate tests for autism, but /getting/ a diagnosis can be difficult. A teacher spotted autistic symptoms in me back when I was ten and recommended I get tested. It wasn't until three years later that a couple thousand dollars got taken out of my college fund and I received a day's trial of tests to determine that I have it. Insurance did not cover the procedure. Now-a-days, people have more understanding and awareness (this was a little over ten years ago), but it is still an expensive procedure, involving many specialists of different areas, sometimes neurologists and brain scans.

hoopism 12y ago

There's a saying among those who become familiar with Autism. "If you've met one kid with Autism, you've met one kid with Autism" There are certainly clear cases... but the trouble is identifying the non-traditional and less severe cases. These methods are great, but with early intervention being so critical it's doesn't help with diagnosing younger children (from what I read... seems patient would need more cognitive ability). As a parent who has recently run the gauntlet of diagnosis the most frustrating part of the lack of awareness for younger children. Based on all my reading early intervention can have a tremendous impact of future outcome (before 3y/o is really the sweet spot). There's so much stigma on classifying young children early that parents are often reluctant to seek out diagnosis and treatment. My daughter was diagnosed at 15 months and has since made amazing strides. If there was one thing I wish I could pass on to every parent it's that there is absolutely no harm or shame in doing diligence if you feel something isn't right. Therapies are play based and are great for even nuerotypical kids. If you suspect a delay or risk... talk to a specialist ASAP.

aidos 12y ago
This is very good advice. My wife is an Early Years Speech and Language therapist, so she is regularly exposed to children with autism. Your daughter is lucky to have a proactive parent. Even when cases are identified within the system, by nursery staff for example, it seems to be more common than not that parents become very defensive about the idea of seeking further help. And actually, as a parent, I can understand it - but having seen first hand the difference professional help can make, especially in those early years, I would do everything in my power to get expert advice. In the UK we have the NHS, and even though the waiting lists can be long (because these are the areas that tend to be the first to go during budget cuts), help is freely available. And it's not just autism we're talking about. There could be all manner of things that can contribute to a delay in those early years. There are people who can literally make the world of difference to the rest of child's future, and they really want to help.
- hoopism 12y ago
  In Massachusetts, and many other state, there is free therapy available to children under 3. That applies to any developmental delay. I encourage any parent to make full use of these resources. Having experienced them first hand it's been nothing but positive.

valdiorn 12y ago

Sensitivity and specificity! That title is a bit misleading :) I too could write a test that identifies autism 97% of the time: return Random.Get(0, 100) < 97;

nicklo 12y ago
Yeah I wonder what the false positive rate is. Didn't see any mention of it though.
- duwease 12y ago
  I think it's just the headline that's misleading, the abstract says quite clearly: "Moreover, machine learning algorithms classified individuals as autistic or control with 97% accuracy from their fMRI neurocognitive markers." The "or control" doesn't tell you exactly what the false positive rate is, but at least it sets the upper bound at 3%.
  - arjie 12y ago
    No reason to reverse engineer. The paper has all the information you need. One false negative in the cross validation. No false positives.
arjie 12y ago
What they did is take a control group that's the same size of the autism group. Then they did what's called leave-one-out cross-validation (which is exactly what it says, train on the entire set leaving one out, then use that one for validation and do so all ways). The measure they chose (Accuracy) is not without its flaws, but it would not be susceptible to the one you mention. For instance, if you took 100 negative and 100 positive and then ran your test, you'd expect an accuracy of something a little more than 50%.
- cbhl 12y ago
  Under this methodology, how meaningful would having more data points be with respect to statistical meaningfulness? The study only appears to use 17 people in each group (for a total of 34 people).

forrestthewoods 12y ago

As if autism is a "thing" that you "have". HIV is a thing that you can have. We check your blood and say "yup, you got HIV in there" or "nope, you're clean". Autism, like many terms, isn't a thing. It isn't even a state. It's a description of a state. But it's not a complete description of that state. It's really just a loose description of part of a state. Every case is different. Every autistic person is unique.

harperlee 12y ago
If it is useful, I don't know a lot about autism, and for me your comment is super cryptic. What are you trying to say? Isn't autism sort of a dimension? I've heard about "the autist spectre", and the prevalence in males, and that's the idea that I got.
- pavel_lishin 12y ago
  "The Autist Spectre" sounds a little like "The Holy Spirit". Did you mean "autism spectrum"?
  - harperlee 12y ago
    Yes, sorry for that :) not being a native english speaker, I sort-of translated it (I guess I haven't seen it in english a lot).
- VLM 12y ago
  That would be "spectrum" as its quite smooth and analog. Unlike a medical condition like a broken bone where you either got two pieces or one and in between is kind of unlikely. Historically no test existed other than behavior observations. Oh look a cluster of behaviors, we'll call it a disease. That leads to some severe cultural problems like just medicating the hell out of people until their vegetate. Not a very nice thing to do. The highest functioning people aka closest to normal (whatever normal is...) tend to not appreciate being drugged into submission, eliminating any chance of higher level human functioning. (edited to emphasis the side effects of most medications for autism symptoms tend to be intensely punishing both physically and mentally) Its rather like obesity, there's quite a range and how much someone has and how much someone needs to be forcibly "fixed" is open to quite a bit of opinion. OP is correct in that they selected a group of very high functioning people and controls, so what if anything that would have to do with low functioning people is mysterious and its quite possible they have little in common other than symptoms / behaviors. So saying "we can detect autism" is kind of like saying "we can fix broken computers". Well, define broken computers narrowly enough and ... On the other hand OP may not have read the article because OP is claiming "we can't" and similar, when "we now can". At least in a highly restricted setting with specially selected test subjects. It does not appear to be a magic bullet along the lines of a glucose tolerance test being pretty effective at diagnosing diabetes.

deleted 12y ago

[deleted]

pg_is_a_butt 12y ago

if vaccinated: return true;

Asparagirl 12y ago

I would be careful reading too much into one study. If you read their Methods section, you can see that they only picked adults with "high-functioning autism" which is so loosely defined as to be meaningless. Is it supposed to represent Vineland scores, or ADOS scores, or IQ, or "doesn't live in Mom's basement", or what? But if you see that they also cut anyone from the study that has a family history of autism (even though autism is highly heritable), cut anyone with developmental delays (and almost all people with autism have or had delays in some realm, from speech to fine motor), cut anyone with anxiety disorder (extremely common in autistic people), then really you're left with probably a bunch of almost-entirely-guys with what used to be called Asperger's and is today (well, as of DSM-5) lumped back in with autism the broader category, for better or for worse. Point being, be careful not to think this is a representative sample of a big, big category. All that being said, I would love to see how these results stack up against another recent project based in San Francisco at UCSF that is doing fMRI scans of kids (not adults) with sensory processing disorder (SPD) but who do NOT have autism. The project's lead, Dr. Elsya Marco at UCSF, is studying something similar: biological evidence of SPD and how it can be distinguished on scans from autism. The two disorders often go together, but she's trying to tease apart why some people are hypersensitive to sensory stimuli and yet DON'T have autism. Study info: http://www.ucsf.edu/news/2013/07/107316/breakthrough-study-reveals-biological-basis-sensory-processing-disorders-kidsi http://www.ucsf.edu/news/2013/07/107316/breakthrough-study-r... And they're crowdfunding right now to raise money to do a bigger sample size for the fMRI scans: https://crowdfund.ucsf.edu/project/53f230b014bdf718b0b2608d https://crowdfund.ucsf.edu/project/53f230b014bdf718b0b2608d (Each brain scan they do costs $550.)