Unique Brain Pattern Could Predict Autism in Youngest Children

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Genetic changes are almost certainly behind many cases of autism, and the latest research suggests that some of those alterations may be contributing to more densely connected networks of brain nerves.

A highly interconnected brain could mean that signals zooming from sensory nerves to other networks become too overwhelming to parse apart and process, which researchers believe is a hallmark of the autistic brain. And in a study published in JAMA Psychiatry, Stanford University researchers report that this pattern of hyperconnectivity in some brain areas could provide a fingerprint for autism that helps doctors to recognize the condition at its earliest stages.

The scientists scanned the brains of 20 autistic children who ranged in age from 7 to 12 and also imaged 20 typically developing children of the same age for comparison. They found stronger connections within many critical brain networks in the autistic children, including those responsible for introspection, vision and movement.

They also saw more robust links in networks that help the brain to triage the flood of incoming information from both our bodies and our environment that assaults us constantly. Called the salience network, it’s responsible for determining which internal or external sensations need our immediate attention. Using a computer program that the researchers developed to make sense of the brain imaging data, they found that by mapping the salience network alone, they could accurately classify autistic or non-autistic children in their study 78% of the time — and could do so 83% of the time using data from other researchers.

(MORE: Brain Imaging Could Detect Autism Risk in Infants as Young as 6 Months)

“That’s wonderful,” says Kamila Markram, the Autism Project Director at the Brain Mind Institute of the EPFL, a federal technology institute in Lausanne, Switzerland, who was not associated with the research, “We must move toward biological markers for autism and not just rely on interviews and observations by people.” Markram previously published animal research suggesting that hyperconnectivity may be involved in autism.

Moreover, the more strongly connected the salience network was in autistic children, the worse symptoms they had in terms of repetitive behaviors like rocking and restricted interests such as being obsessed with computers or the periodic table of elements. The findings suggest that from an early age, children with autism develop differently from those without the condition, and that these changes may be detectable through brain imaging.

Hyperconnection could explain both the behavioral deficits associated with autism as well as some of its more positive outcomes. A more highly connected brain, for example, is prone to information overload, which can lead to social withdrawal, restricted interests and repetitive behavior as ways of escaping or coping. But such enmeshed neural networks may also lead to better memory and greater focus.

(MOREWhat Genius and Autism Have in Common)

“It confirms the hypothesis and theories we suggested in our model,” says Markram, whose work in rats showed that exposure at specific times during fetal development to the epilepsy drug valproic acid (VPA), or Depakote, contributed to hyperconnected brains and autism-like symptoms. That led her to develop the ‘intense world’ theory that sees autism as resulting from an overwhelmed brain that is taking in and processing too much information. 

According to the theory, the repetitive and obsessive focus that some autistic patients develop toward specific behaviors could be a coping mechanism for this information overload. “Because the [autistic] brain is not adaptively focusing on responding to external information, it can focus on a narrow range of interests,” says the study’s lead author Vinod Menon, a professor of child and adolescent psychiatry at Stanford. “That kind of focus is actually what could give rise to these outstanding but restricted areas of exceptional skill.”  He adds that his new research “opens up a nice way of thinking about how the brain is organized that can lead to both deficits and strengths.”

(MOREQ&A: Temple Grandin on the Autistic Brain)

Recognizing a unique autistic brain pattern could also identify children at higher risk of developing the condition well before the first symptoms appear, generally around two years old. Recent studies suggest that intervening with behavioral therapies that help toddlers to learn how to process information in a more organized fashion could reconstruct potentially abnormal networks of brain neurons. And further research may refine these therapies to the point where they could help autistic people to enhance their creative skills and ability to concentrate and mitigate their more unhealthy behaviors.

80 comments
quando25
quando25

This was a very informative article and give me a deeper understanding of Autism . This would be a very tough condition to live with as a parent... Thanks for always writing great articles.. http://dentalimplants.cabanova.com

lilady
lilady

About those mice studies and autism

http://www.emilywillinghamphd.com/2012/08/writing-about-autism-science-10-things.html

"...If the study in question is about mice, never talk about how the results will lead to a therapy or a cure or write about the mice as though somehow, they are just tiny humans with tails. Mice have misled us before. They are only a way to model what might happen in a mammal sorta kinda related to us. They are not Us, otherwise we'd live in tiny, crowded places, having 10 children at once and ignoring them when they grow fur, and this autism thing wouldn't be an issue...."


AlainCouvier
AlainCouvier

Interesting to note this research on SFARI website http://sfari.org/news-and-opinion/news/2013/imaging-shows-loss-of-brain-chemical-in-autism in regards to GABA - "new study shows that children with autism have low levels of gamma-aminobutyric acid (GABA), a chemical that keeps brain signals in check."

Of course ...

"GABA, the principal inhibitory neurotransmitter in the adult brain, has a parallel inhibitory role in the immune system."

"Antigen-presenting cells (APCs) express functional GABA receptors and respond electrophysiologically to GABA. Thus, the immune system harbors all of the necessary constituents for GABA signaling, and GABA itself may function as a paracrine or autocrine factor. These observations led us to ask further whether manipulation of the GABA pathway influences an animal model of multiple sclerosis, experimental autoimmune encephalomyelitis (EAE). Increasing GABAergic activity ameliorates ongoing paralysis in EAE via inhibition of inflammation. GABAergic agents act directly on APCs, decreasing MAPK signals and diminishing subsequent adaptive inflammatory responses to myelin proteins." 

2010 Feb 9;107(6):2580-5. doi: 10.1073/pnas.0915139107. Epub 2010 Feb 1

AlainCouvier
AlainCouvier

These are fascinating times for ASD research as we begin to unfold the varying layers of biology, neurology and genetics that are significantly linked.

We have made great strides in understanding the neurological and immunological profile of ASD children and this will in turn lead to better identification and early intervention that will have a positive outcome for ASD children.

In terms of immunology and the ASD child we have robust studies indicating immune dysregulation not only supported by genetic / physiological studies but by the significant incidence of co-morbid conditions found in Autism.

* One of the most stunning pieces of research was undertaken at CalTech in 2012 when scientists were able to 'correct' many of the autism like behaviours in mice by implementing a bone marrow transplant.

* Researchers at Center for Neuroscience, UC Davis are investigating the major histocompatibility complex (MHC) in regards to Autism and hopefully this can be translated into new treatment regimes in the near future.

* Stanford University researchers have for the first time sequenced the genome of an unborn baby using only a blood sample from the mother.

*Boston Children's Hospital are undertaking work using Rapamycin in breakthrough work that addresses the connection between early epilepsy and autism. Using animal models they have not only shown the connection between autism and epilepsy (mTOR pathway) when implementing Rapamycin they significantly reduced both seizures and autism-like behaviours.

(Rapamycin is an immunosuppresant drug)

* At Tufts University School of Medicine they are exploring perinatal stress and brain inflammation.They are currently trialling Luteolin a flavone with has anti-oxidant, anti-flammatory, anti-allergy and neuroprotective properties.

* California Institute of Technology researchers are investigating the use of probiotics . They have showed in an animal model reduction in anxiety and repetitive behaviors and a boost in social communication.

* Other work is continuing in understanding the relationship between the gastrointestinal tract, the microbiome and neurological outcome in a variety of mental health outcomes including anxiety, depression , schizophrenia and of course autism.

* Columbia University researchers continue to investigate the linkage between viral exposure (influenza)  and mental health outcome (Autism, Schizophrenia , Bipolar , Depression) in the maternal environment.

* Researchers from a variety of institutions are looking at our manufactured environment (air pollution) and how it interacts with gene expression and Autism.

The differing pathways that lead to the outcome we have labelled as Autism has implications for a number of co-morbid diseases and mental health outcomes. We are gaining a far greater insight into how mental health can be linked to epilepsy, the immune system , the gut , bacteria and virus and how all this interacts with physiology and our genes.




bepatienz
bepatienz

Although this article discusses genetically-determined causes of autism, like essentially all articles that discuss ASD it has been comment-bombed by antivaccine activists who reject scientific evidence and cling to their failed hypotheses.

Although the claims of antivaccine activists have been repeatedly eviscerated in the scientific literature, it might be useful to review a study published earlier this month that neatly packages the evidence that refutes the anti-vaxxer's claims and ties that evidence in a neat bow: Evald Saemundsen et al. Prevalence of autism spectrum disorders in an Icelandic birth cohort.
BMJ Open. 2013; 3(6): e002748.

Note that thimerosal-containing vaccines were banned in Iceland since 1991, that influenza vaccines (which might contain thimerosal) are recommended in Iceland only for people 60 years of age or older (that is, influenza vaccines are NOT recommended for either children or pregnant women) and uptake of such influenza vaccines is much lower than in the US.: 

1. As in other countries, the prevalence of ASD continued to increase after exposure to thimerosal-containing vaccines was curtailed: although thimerosal was banned in 1991,the authors noted: "In a 4-year period, from the end of 2005 to the end of 2009, the prevalence of ASD in the cohort studied doubled, moving from 0.6% to 1.2%." Note that the apparent prevalence of ASD in Iceland in 2005 was comparable to that in the United States at that time. Note also that, as in the US, Denmark and Canada, decreasing exposure to thimerosal-containing pediatric vaccines was followed by increasing prevalence of ASD.

2. The anti-vaxxer's "too many too soon" argument is again refuted in this this study:

(a) children in Iceland receive about one-half as many vaccines as do children in the US (in particular, children in Iceland do not receive the birth dose of HepB vaccine or the following doses, or the repeated vaccinations against rotavirus, pneumococcus, varicella, or HepA), but the prevalence of ASD in the two countries is comparable

(b) the vaccination schedule in Iceland is generally somewhat delayed compared to the US schedule

3. The anti-vaxxer's goalpost-shifting "it's the aluminum!" cry must account for how half as many vaccines in Iceland provide as much aluminum as is instilled by the US schedule--although, of course, the fact that children receive much more aluminum via intake of breast milk or formula than they get from vaccines might be a problem

4. The "it's the birth dose of the dreaded HepB vaccine" that causes ASD meme is of  course refuted by the fact that babies in Iceland are not vaccinated--ever--against HepB



neuroautomaton
neuroautomaton

An issue not addressed here is specific to the technique the researchers used, called "classification". Classification methods involve identifying patterns in data (e.g. brain images) that differ for one group relative to another (e.g. kids with autism vs controls). But the researchers never know which patterns were identified or what they mean--the data used by the computer could be due to any difference between the groups, even if this difference tells us little about autism that we didn't already know. 

According to this article, "the more strongly connected the salience network was in autistic children, the worse symptoms they had in terms of repetitive behaviors like rocking and restricted interests". Two points here: 

i) Movements like "rocking" affect fMRI signals, and even the correct that is used systematically alters the signal. Perhaps the classifier is relying upon changes in the brain scan images caused by movement/correction effects to classify the subjects accurately. 

 ii) Classification is only useful if it offers new insights into the causes of autism. The above article makes it appear like these results "confirm" a theory, but really this is no different than saying that "the brains of kids with autism, differ from control brains in how they function". It must be true, but we want to know the important ways in which this is true. If the authors restricted their analysis to this "salience network", without showing that it predicts better than other brain activity interactions, then this result may be partly due to the authors' preferences for where to look.

AlainCouvier
AlainCouvier

Medical research has given us as a society a great deal of new information in regards yo the neurology, physiology and genetics of autism in the past couple of years. The most notable research that comes to mind in regards to this article was undertaken by the Geschwind lab at University of California LA in 2011. 

Transcriptomic analysis of autistic brain revealed 'convergent molecular abnormalities in ASD'  neurology and the  immune system.

"We show that the transcriptome changes observed in ASD brain converge with GWAS data in supporting the <b>  genetic basis of synaptic and neuronal signaling dysfunction in ASD, while immune changes have a less pronounced genetic component and thus are most likely either secondary phenomena or caused by environmental factors.</b> Since immune molecules and cells such as microglia play a role in synaptic development and function we speculate that the observed immune up-regulation may be related to abnormal ongoing plasticity in ASD brain."

Clearly gene and environment intersect in the development and pathology of ASD as has been shown in a substantial number of other research that shows clear immune system dysregulation.



lilady
lilady

That's another study added to the growing body of evidence that subtle changes in the brain structure of autistic babies are present at birth...thus further debunking the theory that vaccines are implicated in the onset of autism.

MaurineMeleck
MaurineMeleck

There is no such thing as a genetic epidemic so I really don't get the  point of this article.  If the intention is to make people think children are born with autism, it won't work.  There is no proof that these brain changes take place before or at birth,  It would be  a real study if an infant's brain is  studied prior to any vaccinations.  In fact, a fully vaccinated vs fully unvaccinated study of children needs to be done right away.  It should have been done over a decade ago when the autism numbers were climbing.

Maurine Meleck, SC

doctorsensation
doctorsensation

Biological markers are a ruse. The real issue is what man-made environmental triggers are creating the problem.

I don't think parents of autistic children buy into the genetic theory. I also think the genetic theory flies in the face of mathematical odds.  Let's get the real work done and look at toxins in the environemnt ie; glyphosphates such as "round up" and Vaccine ingredients such as tween 80 mixed with heavy metals such as HG and AL as well as viral material. I'm sure we could "round up" a few more suspects if we tried.

haferba
haferba

Very good synopsis in where autism research has been leading us. Wish there was more research on the sensory issues, as the effects can be debilitating. Genetics seems to be the most conclusive piece of the puzzle. Now to know what if anything works in tandem with genes to set autistic development in motion, defininately IMHO something prenatal. I knew within 2 hours of child's birth something was off, but I didn't know what it was at the time. Child has two cousins with autism as well.

vgupta123
vgupta123

The article starts with the word "genetic" but does not provide any evidence to support genetic causes of autism. Genes can't change fast enough to explain the rate at which autism is increasing. Focus on genes is a nice way to distract our attention from true causes, such as vaccinations, older moms and dads, drug use during pregnancy, etc.. 

AnneDachel1
AnneDachel1

The truth is, while researchers continue to guess about autism and scratch their collective heads over this mysterious disorder, every year, tens of thousands of these disabled children will finish their education with nowhere to go. They will become the responsibility of the taxpayers as dependent adults. Imagine the future when autism isn't merely a disorder affecting children. Imagine one in every 50 adults, one in every 31 men, disabled with autism.

Where will they live? Who will care for them? And the biggest question of all...How will we pay for them?

Anne Dachel, Media editor: Age of Autism

AnneDachel1
AnneDachel1

This piece doesn't tell us, but the current autism rate is now one in every 50 kids in the U.S. Among boys alone, it's one in 31. Genetic changes in the brain couldn't possibly explain what's happening to our children.

Many experts and officials over the past two decades have assured us that the increases in autism were merely "better diagnosing" of a disorder that's always been here. In Whenever we hear about autism, it's almost always about CHILDREN WITH AUTISM. So where are the 40, 50, and 60 year olds displaying the same signs of autism that we see in our children?

This story is focused on the brain of autistic children. Where are the adults with the signs of "hyperconnectivity" in their brains too?

Anne Dachel, Media editor: Age of Autism

AnneDachel1
AnneDachel1

The aim of this latest study seems to be even earlier diagnosing. Does it bother anyone that we can't seem to do anything about autism except diagnose it? Officially, there's no known cause or cure for autism. There's nothing a mainstream doctor can tell a new mother so that her baby that was born healthy and is developing normally won't also end up on the autism spectrum by age two. Maybe instead of just working to diagnose it sooner, scientists might try figuring out why it happens in the first place. And with a rate of now one in 50, the exponential increase could hardly be blamed on genetics alone.

Anne Dachel, Media editor: Age of Autism

AnneDachel1
AnneDachel1

Since "genetic changes" are the first two words in this piece, it's clear that autism is being presented as a genetic condition kids are born with. Here's more research that really tells us nothing about why a once rare disorder is now so common that everyone knows someone with an autistic child.

How does this relate to the endless studies we're constantly told about linking autism to older moms, older dads, moms who drink, moms who smoke, moms who live too close to freeways, moms who take antidepressants during pregnancy, moms who don't get enough folic acid, and moms who have babies too close together?

Anne Dachel, Media editor: Age of Autism

AchieveBeyond
AchieveBeyond

This is an encouraging genetic study. This is showing that the scientific research into Autism is going in the right direction and will aid in finding the root cause of this disorder. These type of genetic brain studies should continue to build upon these findings, so the alarming rate of Autism in this country can start to diminish.

J. Drewes
Achieve Beyond Pediatric Therapy & Autism Services
http://www.achievebeyondusa.com