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Spotting autism's unique shape in the brain
September 2nd, 2011
06:15 PM ET

Spotting autism's unique shape in the brain

Diagnosing autism is not easy.  Doctors currently diagnose autism in children by observing behavior.  But researchers at Standford University believe they have developed a way to use brains scans that may help identify autism in children in the future.

Using MRI scans, researchers were able to determine that autistic brains have a unique shape when compared to typically developing brains.

They found that there are significant differences in areas of the brain called the Default Mode Network, a set of brain structures associated with social communication and self-awareness.

A study published Friday in Biological Psychiatry finds that the greater the difference in brain structure, the more severe the case of autism.

Researchers applied new algorithms to analyze the brain scan data and found they are highly accurate– correctly distinguishing between autism and non-autism about 90% of the time, according to the study.

What algorithms lack is the ability to identify autism in a real-world setting, where a patient may fall anywhere along the autism spectrum, or have other conditions as well, like Attention deficit hyperactivity disorder (ADHD).

"We haven't investigated what's called positive prediction value, which is: If I'm tested positive with this kind of diagnosis, do I have the disorder? Whereas what we've done is: If I have the disorder, do I test positive?" says Vinod Menon, Ph.D., who led the research. "And they're completely different questions."

Other researchers, like Christine Ecker, Ph.D., at King's College London, are working on how to move from confirming diagnosis, as Menon describes, to being able to assist with diagnosing cases of autism, with the help of MRI's and algorithms.

Ecker says algorithms have to learn how to distinguish between autism and non-autism, and the more samples of each brain type are available, the better algorithms can become at figuring out which is which.

Brain-imaging studies typically have small sample sizes. In the study published Friday, researchers used just 24 high-functioning children with autism and 24 typically developing children.

One reason for the small sample size is cost.  Brain imaging is expensive.  Also, low-functioning autistic children usually cannot lie still in the scanner, which is essential, and many can't tolerate the noise, which further limits the available sample size, says Ecker.

Another difficulty: All the data used in a study has to come from the same scanner model or MRI.

“It’s just a matter of getting the data,” says Ecker, whose clinic now collects about 2 brain scans a week in hopes of conducting research with a larger sample size.

“We're going to make a prediction based on the brain images and those then will be compared to the clinician's gold standard evaluation, and hopefully it validates. That would be a main step forward to using those techniques in a clinical setting.”

The scanning technology could eventually be especially useful in diagnosing toddlers, and lead to better treatments in the future, says study author Dr. Antonio Hardan, who also treats patients with autism.

This is the first study of its kind in which an algorithm predicted autism in brain scans of children aged 8 to 18, using data to map out the Default Mode Network.

Autism spectrum disorder now affects about 1 in 110 children in the United States, according to the Centers for Disease Control and Prevention.

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Filed under: ADHD • Autism

soundoff (50 Responses)
  1. Chuck Harple

    This is incredible. As a parent of an autistic child, this revelation will only lead to more understanding and breakthroughs in treating Autism!!

    September 2, 2011 at 19:30 | Report abuse | Reply
    • Tom, Tom, the Piper's Son

      Yet again, the shill pipes up with unsubstantiated claims about Vitamin D. Who pays your salary, Lou?

      September 2, 2011 at 21:41 | Report abuse |
    • dj.ayzreiel@gmail.com

      autism is a real genetic disorder. its not magically cured by vitamin D and I as a high functioning autistic am highly offended you write us off so easily.

      September 5, 2011 at 21:08 | Report abuse |
    • Hintofgray

      Posts like Lou's should be removed as spam.

      September 5, 2011 at 21:58 | Report abuse |
    • massbytes

      Lou...You don't know what you are talking about. I have a 26 year-old autistic son who was autistic from the the moment he was born (and before). Give him vitamin D in the womb? Why don't you try and tell me something else about a condition I have observed very closely for the past 26 years as you think you know so much about it.

      September 6, 2011 at 09:31 | Report abuse |
    • Tom, Tom, the Piper's Son

      Lou is nothing but a snake-oil salesman.

      September 8, 2011 at 21:22 | Report abuse |
  2. Tom, Tom, the Piper's Son

    Now, wait for it. Lou will be along shortly to call me a "retard" for questioning his motives in posting his unsubstantiated claims about the virtues of Vitamin D supplements. Which he sells, by the way.

    September 2, 2011 at 21:53 | Report abuse | Reply
  3. Tom, Tom, the Piper's Son

    Too bad for Lou's bottom line, but there is no solid science behind his claims that Vitamin D cures or prevents autism.

    He'll call names and whine, but he won't be able to provide a single iota of evidence that supports what he says.

    And he won't tell you who he works for or why he's on every single health forum claiming that Vitamin D is the answer for every ill.

    September 2, 2011 at 22:07 | Report abuse | Reply
  4. P Choice

    If it helps in the development of a workable solutions for children, let the study go on. If it is all about prevention, I am not sure that will be so viable. Autism is our relation/response to many environmental and biological factors bur it should never be allowed to limit a child's potential. This brain study will help tremendously as well as other natural remedies such as more herbal versus pharmaceutical supplements. There is no point in thinking we can solve a potential chemical imbalance with more chemicals.

    September 3, 2011 at 10:13 | Report abuse | Reply
    • Elizabeth

      If they find out which portions of the brain have problems, then they can begin to develop solutions.
      I find this a much better research project than the international $10 billion project to smash atoms in a bigger machine (and then the U.S. wants more atom smashing technology). My only criticism is the smallness of this study, caused by the low funding of it. We should put people first: there are many diseases that need much more research (much sooner than those atom smashers).

      September 6, 2011 at 08:53 | Report abuse |
    • Wondering

      Why must the tests be performed in the same MRI? If all MRI's aren't the same, what is the purpose of the machine and how can anyone be sure of test results from an MRI? If you were comparing broken bones, you could use xrays from any xray machine. This sounds extremely questionable regarding the conclusions they are making if the machines cannot be deemed accurate unless they are only of one make.

      September 6, 2011 at 15:51 | Report abuse |
  5. Functioning retard

    What gets me are the parents who are in denial.

    September 3, 2011 at 16:40 | Report abuse | Reply
    • marris

      While there are a lot of parents in denial about their autistic children, it's a very hard thing to come to terms with. My parents aren't in denial with my brother at all, but I know that they, and I worry every single day about what will happen when he gets older, and I always wonder how he'll possibly fit in. I worry that I'll have to take care of him, and as much as I love him I'm afraid that would stunt my life.
      I know it sounds ridiculously self centered to be afraid of my life moving forward, but nobody wants to have to harbor another grown person's life.
      I think parents who are in denial are afraid of what will happen to their child, so they lead themselves to believe nothing is wrong. This only causes more pain though. I agree with you. Those parents in denial need to come to terms with what they've got and raise their child the best they can.

      September 5, 2011 at 14:42 | Report abuse |
    • Elizabeth

      It depends on how high functioning a child is. There is also a problem with parents who expect too little from high-functioning children. No matter what is wrong with a child, if at all possible, they need to learn good behavior (though positive parenting techniques), which includes chores, homework, bedtime, dressing, etc. If they are prepared to do work in a schedule, they may even go on to higher education, hobbies, and even relationships. I have two friends with young adult autistic children; and two different family approaches. For the low functioning child, there must be support in place, and don't expect an elderly person to be able to take care of that child for their whole life. The same people that are against birth control etc. are also against helping the disabled, but people who are developmentally disabled need care every day of their lives.

      September 6, 2011 at 09:00 | Report abuse |
  6. Heather

    I'd prefer to see MRI's used to diagnose Autism in the future rather than the current test which is a doctor's opinion based on observing behavior. Other conditions can mimic or have similar behaviors which I believe is leading to the term "Autism" being used as a catch all. Until hospitals began to use ultrasound to diagnose appendicitis, many people had unnecessary appendectomies based on symptoms that were similar. Diagnosis based solely on observed symptoms is a bad policy.

    September 3, 2011 at 20:27 | Report abuse | Reply
    • Tom, Tom, the Piper's Son

      There are many disorders that can only be diagnosed by observation-there's no test for Parkinson's or Alzheimer's. There are no tests to ascertain whether a patient has depression.

      September 4, 2011 at 10:03 | Report abuse |
    • Elizabeth

      I beg to differ with Tom... my mother had a PET scan of her brain, which showed lesions from mini-strokes which caused her dementia. It may not tell in detail whether there are plaques and tangles versus lesions, but a PET scan will show definite brain damage in an elderly dementia patient. Tests can be very useful, including tests of skills which can sort out auditory processing problems. Speech tests, audiology tests, occupational therapy tests, all can lead to useful therapies. But the therapies cost something. Society must help these children, because if they are helped, often they can be productive adults. The same people who want to prevent birth control are often the people who want to cut funding to the disabled.

      September 6, 2011 at 09:07 | Report abuse |
    • Tom, Tom, the Piper's Son

      OF COURSE tests can show many things. Where did I claim they didn't? The fact is that dementia is not always caused by Alzheimer's and there is no test for it except by a doctor's and family member's observation of behavior. Until death, when the brain can be examined, there is no "test" like an MRI for Alzheimer's, or for Parkinson's.

      The point is that making diagnoses on the basis of observation of symptoms isn't 'bad policy', as the original poster claimed; it's a necessity in the cases of many disorders.

      September 6, 2011 at 09:42 | Report abuse |
  7. Brad

    Heather – i agree that finding biomarkers for autism spectrum disorders in the brain will be beneficial. i should correct you though on stating that autism is currently diagnosed by opinion from a doctor. proper diagnosis of ASDs is made from parent interview on the ADI-R, and sometimes supplemented by interaction with the child with the ADOS.

    September 3, 2011 at 23:00 | Report abuse | Reply
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  8. what?!?

    Vitamin D? Seriously?

    The best treatment for autism is behavior-based. Very intense and time consuming but works very well.....

    September 4, 2011 at 10:38 | Report abuse | Reply
    • Tom, Tom, the Piper's Son

      Lou is on every forum with miracle claims about Vitamin D. He obviously works for a company that manufactures supplements or for the Vitamin D Council.

      September 4, 2011 at 14:53 | Report abuse |
  9. Jeanie Schmidt

    So irritating how news has no link to the actual study they do stories on! Cant find the article and they do this all the time! Dr. Gupta could change this...there should always be at least a biblio type link.

    September 4, 2011 at 12:40 | Report abuse | Reply
  10. This is wonderful news!

    But....I would like to see CNN use a stock photo of a typical-looking child in this story, as this little boy in the foreground has facial features of fetal alcohol spectrum disorder. Autism has a normal face. I imagine the two disorders could be confused as the cognitive and behavioral and social symptoms are similar, but you can't ignore facial features of FASD. I would even go as far to guess that many of the alarmingly increasing 1 in 110 cases of autism are really FASD instead. Autism is not preventable, FASD is. But autism is more socially acceptable diagnosis, and places no blame on the mother. Not many mothers will admit to drinking alcohol – and no amount is safe – during pregnancy. How many mothers don't realize they are pregnant until they are 8, 12 or even 16 weeks pregnant and unknowingly consumed alcohol during the most significant neurological developmental time of their fetus's gestation?

    Are the scans showing autistic brains or brains that have been shaped by alcohol? Something to ponder.

    September 4, 2011 at 14:47 | Report abuse | Reply
    • Heather

      Honestly, I was noticing how very much the boy in the picture resembles my asd son who was conceived and carried without a drop of alcohol ever entering my system. In fact, while a LOT of parents of asd are highly resistant to the notion that there are physical markers, I have been able to spot them since I was a child and grew up with an autistic boy. Some of the kids I've known who have been diagnosed as "Autistic" but didn't have what looks like it to me ended up being the ones who "outgrew it." This is why I stand by my desire to see a brain scan used in diagnosis.

      September 5, 2011 at 08:08 | Report abuse |
  11. Sam

    From news reports, it seems these researchers are making huge claims based on a very small study. They only studied the brains of autistic individuals ages 8 to 18. How on earth could they claim that MRIs could diagnose autism in a two year-old? They need to study the brains of autistic individuals as compared to other individuals with some kind of communication impairment. It is likely that years of impaired communication input is what causes the brain differences, not autism, specifically. As for fetal alcohol syndrome, it is very different from autism. As for vitamin D, there is legitimate research out there that is looking at maternal vitamin D intake and autism. The jury is still out, but any vitamin deficiency should be treated. I doubt anyone makes much money off of something like vitamin D–it's not a patented substance.

    September 4, 2011 at 20:00 | Report abuse | Reply
  12. Debbie

    Look my daughter was diagnosed at age 2 1/2 years old. We got her speech and occupational therapy. And with lots of love and patience they can get better. Until she was age 5 she did not speak in a sentence and had to wear diapers, but now she will turn 15 years old tomorrow. She is a 4.0 student and sings in chorus at high school. Her social skills are about 3 years behind. But no one would believe she has autism. When she had her ( meltdowns ) we would hold her very tight until they passed. She had all the characisitcs.... line up toys. had a strict routine, and no eye contact. I took away chocolate milk...this would agitate her. she was on no medicine. Everybody around your child has to be a pivital person in their life. The teachers and family members.

    September 5, 2011 at 09:50 | Report abuse | Reply
    • Alissa

      Debbie - thank you! My daughter is 7 years old and is very high-functioning ASD. She has developed out of many ASD traits, but still has a speech delay. But she's smart as a whip and makes progress every day. We have taken a similar approach with her - got her help early, team with her teachers, give lots of love with positive encouragement, be creative, and set high expectations for her. I was in tears the end of the last school year when teachers told me how much the "typical" kids in her school like her. She's a little rock star there. I still worry about the future, but you and your daughter just gave me hope. Bless you both!

      September 6, 2011 at 13:11 | Report abuse |
  13. gmavel

    This is an interesting and potentially very helpful development to help understand, diagnose and treat autism. My grandson with "mild" aspergers, whom I have raised, has no distinguishing facial features and has learned to overcome or deal with some of the social and auditory problems, but he is still very definitely "on the spectrum." One of his biggest problems is that with no visible features identifying his disorder, his behavior can lead people to think he just needs more discipline. I have found omega3 to be extremely helpful, along with daily vitamins. But it still takes lots of behavioral training, love and understanding. He now takes medication, as well, which I am not happy about, but it seems necessary. Every child is different, in spite of the similarities, but we need all the information we can get. One thing that can make a big difference is early diagnosis. This allows parents and caretakers to learn all they can about what helps and what doesn't and by coming to understand their child's needs, really make a difference. It take committment and a long time, but it can really work wonders. I think a lot of those who supposedly "outgrow" it are those who have benefitted from this. They aren't necessarily "cured', just compensating and making the most of their strengths, which can be great ones.

    September 5, 2011 at 10:07 | Report abuse | Reply
    • mary p

      I found the article very interesting because my teachers in 2nd grade told my parents something was wrong with me. I was recently diagnosed with Aspergers Syndrome at 47 years old. It was quite a shock but it explains a lot of things that I did as a child. Also, I deal with severe Major depression, anxiety, and OCD. The medicine has done wonders to help with the depression and anxiety but I am still learning about how to deal with the Asbergers on a personal basis. Any new information is a Godsend.

      September 5, 2011 at 21:39 | Report abuse |
  14. Montel

    I was listening to a Science Friday episode (NPR radio program) and there were 2 Doctors and an autism researcher on. The researcher said that in their study they found that mothers who took a vitamin supplement while pregnant had a 60% less chance of having an autistic child!! The host said, Wow, that's amazing!!! The 2 doctors said, 'we are trying to develop a drug that will cure autism.' End of discussion. Any disease that gets cured is no longer a cash cow for the drug industry. Any prevention is shunned in the name of profit.

    September 5, 2011 at 17:22 | Report abuse | Reply
    • Hintofgray

      "I was listening".... yeah, sure you were, Lou.

      September 5, 2011 at 21:57 | Report abuse |
  15. Montel

    For those making fun of Lou – check out this Scientific American article about possible links between autism and vitamin D deficiency during pregnancy

    http://www.scientificamerican.com/article.cfm?id=vitamin-d-and-autism&page=2

    September 5, 2011 at 17:37 | Report abuse | Reply
    • A scientist

      The article you cite argues that some evidence indicates that there may be a link between vitamin D deficiency and autism. The evidence is very preliminary, and there is no indication that vitamin D can reverse autism (just that vitamin D deficiency during pregnancy and early infancy may increase autism rates). This is very different from the claim of people like Lou, who argue that there definitely is a link, and that "a cheap vitamin D treatment helps a lot" in treating kids with autism.

      September 5, 2011 at 21:55 | Report abuse |
    • Hintofgray

      Nice try, Lou. You aren't terribly convincing.

      Vitamin D isn't a cure for autism. Unless you have proof, you're full of crap.

      September 5, 2011 at 21:56 | Report abuse |
    • Another scientist

      If you dug through old issues of Scientific American, you would find dozens of things that have been proposed to be linked to autism (TV watch, living near a highway, diet, numerous genetic markers, etc). As "A scientist" said, these are all hypotheses, not proven fact. The science of autism is still in its infancy, so scientists are still searching for possible culprits. They do small studies and make proposals, which then need to be tested and further examined.

      This is completely different from definitive statements that Vitamin D deficiency causes autism, or that supplementation can cure it. Anyone who declares with certainty that they know the cause of autism or the cure for it is dishonest, ill-informed or trying to sell something (or in some cases, all three).

      The simple fact is that it is likely that many factors contribute to autism (including a combination of genetics and environment). We would all like simple answers, but they may not exist.

      September 6, 2011 at 00:06 | Report abuse |
  16. hemant

    My 3 year old son was diagnosed with PDD , 9 months back in new york. He had some symptoms like not enough eye contact and was way behind in speech and other social behaviours. But he was not completely mute either. He was probably having milder symptoms or as you say a high functioning one. Then we moved back to India for my job here and showed up at an experienced pediatrician. After hearing us and observing the child he wanted to try an 'ayurvedic' formulation. (Ayurveda is herbs based traditional medicine). We went with that regimen and also exposed him to comprehensive in house behaviour training and socialization. My parents took retirement and joined us full time. Now after 9months...there is marked improvement, he is going to school playing with other kids, catching up very fast on language. His range of interests are almost like kids of his age. As I said earlier his symptoms were not that extreme or may be he was misdiagnosed, I dont know. This herbal syrup is called 'mentat' and its manufactured here. The website does not claim it cures or is meant for autism. May be it can be tried for cases which resemble my son's, and from our experince I can say there are no side effects. I am neither a qualified physician or medical expert nor I am anyway connected to the company that manufactures it. Just shared a personal experience.

    September 6, 2011 at 02:51 | Report abuse | Reply
    • Ravi

      Hi Hemant,
      You will not realize how much you have helped me with your comments. My son at 2.5 years did not speak anything. He was also diagnosed with Autism. We lived in Europe and were very worried about his being left out. My doctor in India also advised Mentat. But I wanted to read some reviews and then I came around your comments. I followed exactly that. I gave him mentat and also sent my wife and son to India to live with his grandparents. The magic worked and now after 3 months time, he is speaking at least 30 words. His social interaction, emotional bonding and understanding is also improved a lot. I think intense social / family atomosphere is the key here..Thankfully you can have that easily in India because of our culture.. I would like to thank you for you valuable input.

      March 12, 2013 at 07:04 | Report abuse |
  17. Mommy

    My son was diagnosed with ASD at 23 months. I had started asking the doctor if he was autistic at his 6 month check-up. I was told that he was perfectly normal and that I was worrying too much. When he was 19 months I knew for sure something was wrong and asked for a second opinion. In our case, it wasn't just one person who made the diagnosis, it was a team of people. I, personally, was confident in the decision they made. If brain scans can be used to confirm a diagnosis based on observation, GREAT! The more information we can get or use for a diagnosis the better. I do think it is odd that the boy in the picture above doesn't look exactly "normal" and so many children with autism do. I realize there may be a few who don't, but my son is one of the MANY who look like there is nothing at all wrong with him and people sometimes think we just need to correct him. I did not take my prenatal vitamins regularly as I should have when I was pregnant with him and that will forever haunt me. However, many children have been born without autism to mothers who never took vitamins so I try not to beat myselft up for it.

    September 6, 2011 at 07:54 | Report abuse | Reply
  18. Peter Melzer

    The problem with this technology is that the participants must lie perfectly still in the scanner for a long time. First behavioral differences manifest themselves at about two years of age. If this method is to assist early diagnosis, it must be applicable to children under two. Best of luck!

    September 6, 2011 at 08:00 | Report abuse | Reply
    • Abdo

      Wow – I am so glad you found me, which in turn has allowed me to find YOU! You are one BUSY momma! Love your blog ..found myslef wanting to click more!I too am in SoCal (Riv), but you have the nicer weather..Will add you to my blogroll..see you again..

      November 14, 2012 at 04:50 | Report abuse |
  19. Tired of being blamed

    The more tests that confirm this disorder, the better. Unfortunately tests such as this one are very expensive and difficult to get covered by insurance. It took me more than three years battling over coverage for a very extensive evaluation for my son which included a $3000 MRI at Munroe Meyer here in Omaha. Hopefully as more definitive medial tests are shown to indicate autism the less insurance companies will be able to deny coverage for evaluation and treatment.s.

    September 6, 2011 at 10:25 | Report abuse | Reply
  20. Sy2502

    Hopefully now that we know autism is caused by something as fundamental as this, we'll put to bed the vaccine theory, and the snake oil peddlers who want you to believe vitamins and organic veggies will make it all go away.

    Yeah, fat chance...

    September 6, 2011 at 13:35 | Report abuse | Reply
  21. jack

    its teh vakkseens! jeny mccarthee teld me so!

    September 6, 2011 at 17:29 | Report abuse | Reply
  22. allinsame boat

    vaccines , vitamins , brain mapping issues..still we dont know why if its the brain what caused the brain to get that way.Its obvious something is going on with the brain panle that controls behaviour .But what caused the brain to get this way ? ...vaccines , wheat GCF , casein ...i dont think all of you know this as all of us would be jumping on the cures. At least folks are trying to give us something .But God help the liars .

    For my case the kids were okay then they regressed. Was it the vaccine i was naive i didnt pay attention but something happened after 1+years

    September 12, 2011 at 15:03 | Report abuse | Reply
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