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Maternal Antibodies Linked to Autism

Some children with autism are born to mothers carrying antibodies that bind to proteins involved in brain development.
By Ed Yong | July 9, 2013 http://www.the-scientist.com/?articles.view/articleNo/36379/title/Maternal-Antibodies-Linked-to-Autism/

In 2008, Judy van de Water from the University of California, Davis, discovered a group of autoantibodies—those that trigger immune responses against the body’s own molecules—that are especially common in mothers of children with autism. Now, her team has identified what these antibodies bind to: six proteins involved in varied aspects of brain development. By crossing the placenta and affecting these proteins in a fetus’s brain, the maternal antibodies could increase the risk of developmental problems in some cases of autism, according to the new research, published today (July 9) in Translational Psychiatry.

“I cannot laud these authors enough,” said Andrew Zimmerman, a neurologist from the Kennedy Krieger Institute, who has also been studying maternal antibodies but was not involved in this study. “Given that, at present, only between 15 and 20 percent of children with autism have known causes—mainly genetic and infectious mechanisms—this will be a major advance.”

Van de Water’s team, led by graduate student Dan Braunschweig, is now using their discovery to develop a test that predicts a child’s risk of developing autism spectrum disorders based on the mother’s antibodies. “It would allow mothers to plan,” said van de Water, by enrolling their children in educational programs that promote social skills from an early age.

The antibody hypothesis would only apply to a quarter of autism cases at most, but van de Water said that it is valuable for affected parents to get some clues about the biology behind their children’s condition. “It provides some answers,” she said. “They couldn’t have done anything about this—it’s not like they did anything to cause the antibodies. But as a parent, you just want to know what happened so you can move forward.”

The proteins that the team identified have a wide variety of roles. STIP1 influences the creation of new neurons, for example, while cypin affects the number of branches they have. CRMP1 and CRMP2 stop neurons from growing and determine their length. YBX1 is involved in gene transcription, as well as neural migration during development. Finally, LDH is the most mysterious of the sextet but is also the most strongly linked to autism. Earlier studies suggest that it may play a role in metabolism or in responses to viruses or toxins.

All six are highly expressed in the fetal brain. Of 246 mothers with children living with autism, 23 percent had antibodies that recognized two or more of these proteins, compared to just 1 percent of 149 mothers with normally developing children. The antibodies have more than 99 percent specificity for autism risk, which means that they have less than a 1 in a 100 chance of finding a false positive.

Meanwhile, the team’s colleagues Melissa Bauman and David Amaral, also from UC Davis, injected eight pregnant rhesus monkeys with antibodies purified from mothers with autistic children. These monkeys were more protective towards their young during their first 6 months, compared to those that were injected with antibodies from women with neuro-typical children. As the young monkeys grew up, they showed unusual social behavior: compared to typical macaques, they were more likely to approach both familiar peers and strangers, even when their advances weren’t rewarded with sustained social interactions.

“Moving this to monkeys is a big step,” said Paul Patterson, a neuroimmunologist from the California Institute of Technology, who was not involved in the work. “This very careful behavioral study shows that at least some of the antibodies do have an effect on fetal brain development.”

Betty Diamond, an immunologist at the Feinstein Institute for Medical Research, agrees the studies represent “an important step forward.” However, she noted that antibodies often bind to many possible targets, and the proteins that the team identified may not be the relevant ones. She also said that some of the alleged target proteins are found within cells, “and it is not clear how or whether the antibodies can penetrate developing neurons.”

Zimmerman added, “Much work remains to be done to show how these antibodies are relevant, how they affect fetal brain development, and what factors lead some mothers to develop these antibodies.”

The team is now working to address these issues, trying to identify the specific parts of the six proteins that the antibodies stick to, determine how they affect the developing brain, and understand how they might be used to predict autism risk. Van de Water and Amaral are consulting for Pediatric Bioscience, which is creating a predictive test based on the results.

“The next step is to come up with a therapeutic to block the antibodies—not just to pick them up, but to do something about it,” said van der Water. Although the concept of preventing autism can be controversial, she points out that her panel of antibodies seem to correlate with the most severe symptoms and language problems.

Still, she is treading cautiously. “The parents have been surprisingly supportive,” she said. “But the autism field has been fraught with false alarms, so we want to be really careful.”

D. Braunschweig et al., “Autism-specific maternal autoantibodies recognize critical proteins in developing brain,” Translational Psychiatry, 3:e277, 2013.

M.D. Bauman et al., “Maternal antibodies from mothers of children with autism alter brain growth and social behaviour development in the rhesus monkey,” Translational Psychiatry, 3:e278, 2013.

Clarification (July 10): This story has been updated from its original version, which included this quote in relation to a potential test: “If it’s positive, their risk is virtually 100 percent”. With a 99 percent specificity for autism risk, such a test would still return false positives for 1 percent of the non-autistic population.

Our thanks the the-scientist.com for this article.

Children’s Brains Change As They Learn To Think About Others

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Main Category: Neurology / Neuroscience
Also Included In: Pediatrics / Children’s Health;  Autism
Article Date: 10 Aug 2012 – 2:00 PDT Current ratings for:
Children’s Brains Change As They Learn To Think About Others
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Researchers have shown that activity in a certain region of the brain changes as children learn to reason about what other people might be thinking.

At around the age of 4 or 5, children begin to think and reason about other people’s thoughts and emotions; they start to develop a skill that scientists call “theory of mind”.

Now, a new study shows that a region of the brain that was already known to be involved in the use of this skill in adults, changes its pattern of activity in children as they begin to acquire theory of mind reasoning for themselves.

Rebecca Saxe, a neuroscientist at Massachusetts Institute of Technology (MIT) and colleagues, suggest their findings provide a good basis for studying theory of mind impairments in autistic children.

They write about their work in a paper published online on 31 July in the journal Child Development.

Saxe is also an associate professor of brain and cognitive sciences and associate member of MIT’s McGovern Institute for Brain Research.

In earlier research, she had already established where theory of mind sits in the adult brain: it occupies a region known as the right temporo-parietal junction (TPJ).

In this latest study, she and her team show that activity in the TPJ changes as children learn to employ theory of mind.

The findings suggest that as children age, the right TPJ becomes more specific to theory of mind, and over time, its patterns of activity look more like those of adults.

The researchers also found the children who did better in tasks where they needed to use theory of mind, were those whose right TPJ was particularly active when they listened to stories about other people’s thoughts.

Hyowon Gweon, a graduate student in Saxe’s lab and lead author of the paper, told the press this week:

“Given that we know this is what typically developing kids show, the next question to ask is how it compares to autistic children who exhibit marked impairments in their ability to think about other people’s minds.”

Perhaps the brains of autistic children show different patterns of activity, says Gweon.

In the study, the researchers used a version of what is commonly known as the “Sally-Anne” False Belief Test, a classic way of studying theory of mind in young children.

Sally and Anne are dolls that the researcher uses to play out a short scene in front of the child.

In the first part of the scene, Sally takes a marble and hides it in her basket. She then leaves the room.

Anne then takes the marble and puts it in her box. Sally comes back in the room, and the scene pauses while the researcher asks the child “Where will Sally look for her marble?”

Children with a well developed theory of mind say “in the basket”. Children who have not developed a theory of mind will say “in the box”. That is because the former will be thinking about what Sally is thinking, even though it does not represent where the marble is in reality, while the latter will only think about what they have observed.

Previous studies have shown children usually start developing theory of mind around the age of 4: they will say Sally is going to look in the basket. But with autistic children, this happens much later, if ever.

For the study, the researchers examined 20 children, aged from 5 to 11 years, as they took part in two experiments.

In the first experiment, the children underwent functional magnetic resonance imaging (fMRI) brain scans as they listened to stories.

As each child sat in the MRI machine, he or she listened to three different types of story: the first focused on the mental states of the people in the story; the second focused only on what people looked like and what they did; and the third type of story focused on physical objects (not people).

The researchers measured the children’s brain activity as they listened to all three stories. Then they compared the scans to see if any brain regions were only active when the children listened to the story about people’s mental states.

In the second experiment the children took part in a version of the Sally-Anne test. The researchers also asked them questions that required the children to make moral judgements, as another way to measure their theory of mind skill.

After the first experiment, the researchers observed that in younger children, the left and right TPJ were active when they listened to stories about people’s mental states. And these two regions were also active when they listened to stories about people’s appearance and behavior.

But in older children, the results were different. Both the left and right TPJ brain regions appeared to be more highly “tuned” when listening to stories about people’s thoughts and feelings, and weren’t active at all during the stories about what people looked like and did.

When they compared these results to those of the second experiment, they found that the extent to which activity in the right TPJ region was tuned into the story about mental states tied in closely with how the children performed in the Sally-Anne tests that measured their theory of mind skill.

An expert who was not involved with the study suggests it significantly increases our understanding of how theory of mind develops in children as they get older.

“Getting more insight into the neural basis of the behavioral development we’re seeing at these ages is exciting,” said Kristin Lagattuta, an associate professor of psychology at the University of California at Davis.

The researchers are also working on another study using a similar set of tests, that aims to discover more about the neural underpinning of theory of mind in children with autism.

Gweon said we know very little about the differences in neural mechanisms involved in children with such impairments, and that:

“Understanding the developmental changes in brain regions related to theory of mind is going to be critical to think of measures that can help them in the real world.”

Funds from the Ellison Medical Foundation, the Packard Foundation, the John Merck Scholars Program, a National Science Foundation Career Award and an Ewha 21st Century Scholarship helped finance the study.

Written by Catharine Paddock PhD
Copyright: Medical News Today
Not to be reproduced without permission of Medical News Today

Visit our neurology / neuroscience section for the latest news on this subject. “Theory of Mind Performance in Children Correlates With Functional Specialization of a Brain Region for Thinking About Thoughts”; Hyowon Gweon, David Dodell-Feder, Marina Bedny and Rebecca Saxe; Child Development first published online 31 JUL 2012; DOI: 10.1111/j.1467- 8624.2012.01829.x; Link to Abstract.
Additional source: MIT News.
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posted by Annie on 22 Aug 2012 at 8:43 am

Thank you, Mary for sharing your opinion. It is very helpful for people not on the spectrum to hear such thoughts. It is hard for us sometimes to take the adequate step when meeting a hard situation with autistic person. First intention is to give him a hug or to calm him in the way we would like to be calmed down but of course we should consider individuality.

Interesting article for me also.

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posted by Mary on 14 Aug 2012 at 9:40 am

As an adult on the autistic spectrum, I find I can relate more to others on the autistic spectrum. I would say autistic children demonstrate more “theory of mind” when it comes to how I am thinking, then most neurotypicals (non-autistics). If we were in a world of autistics, then I have no doubt you would reporting that non-autistics lack theory of mind!

Consider the following: a very caring, lovely lady – most would describe her as empathetic (and certainly not autistic), comes across someone she knows to be autistic, in a state of confusion, barely able to speak, due to sensory overload. This same lady has been told that autistic people do not like to be touched if they are in meltdown. However her empathetic nature does what it will always do in that situation, to cuddle the person in an attempt to comfort them. She cannot put herself in the mind of someone who is autistic, and cannot demonstrate theory of mind in that situation. Something to consider?

Otherwise a very interesting article.

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‘Children’s Brains Change As They Learn To Think About Others’

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Research On Language Gene Seeks To Uncover The Origins Of The Singing Mouse

Main Category: Genetics
Also Included In: Autism
Article Date: 14 Aug 2012 – 0:00 PDT Current ratings for:
Research On Language Gene Seeks To Uncover The Origins Of The Singing Mouse
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Singing mice (scotinomys teguina) are not your average lab rats. Their fur is tawny brown instead of the common white albino strain; they hail from the tropical cloud forests in the mountains of Costa Rica; and, as their name hints, they use song to communicate.

University of Texas at Austin researcher Steven Phelps is examining these unconventional rodents to gain insights into the genes that contribute to the unique singing behavior – information that could help scientists understand and identify genes that affect language in humans.

“We can choose any number of traits to study but we try and choose traits that are not only interesting for their own sake but also have some biomedical relevance,” said Phelps. “We take advantage of the unique property of the species.”

The song of the singing mouse song is a rapid-fire string of high-pitched chirps called trills used mostly used by males in dominance displays and to attract mates. Up to 20 chirps are squeaked out per second, sounding similar to birdsong to untrained ears. But unlike birds, the mice generally stick to a song made up of only a single note.

“They sound kind of soft to human ears, but if you slow them down by about three-fold they are pretty dramatic,” said Phelps.

Most rodents make vocalizations at a frequency much too high for humans to hear. But other rodents typically don’t vocalize to the extent of singing mice, which use the song to communicate over large distances in the wild, said Andreas George, a graduate student working in Phelps’ lab.

Within the last year Phelps research on the behavior of the mouse has appeared in the journals Hormones and Behavior and Animal Behavior. But one of his newest research projects is looking deeper: examining the genetic components that influence song expression. Center stage is a special gene called FOXP2.

“FOXP2 is famous because it’s the only gene that’s been implicated in human speech disorders specifically,” said Phelps.

Having at least one mutated copy of the gene has been associated with a host of language problems in humans, from difficulty understanding grammar to an inability to make the precise mouth movements needed to speak a clear sentence.

The FOXP2 gene is remarkably similar overall between singing mice, lab mice and humans, said Phelps. To find parts of the gene that may contribute to the singing mouse’s songs, Phelps is searching for sequences unique to the singing mouse and testing them for evidence of natural selection, which weeds out mutations with no likely observable effect from those that are likely to contribute to singing behavior.

“Those two things go a long way,” said Phelps, ” And when you look at the intersection of those two things they give us a really good set of candidate regions for what might be causing species differences.”

The Molecular Connection

Most genetic mutations don’t cause serious problems. They are often a part of the genome that is not expressed, still make a functional product, or are simply drowned out by the amount of genes and gene products that are working correctly.

FOXP2 mutations, on the other hand, can have significant effects on speech because of the gene’s role as a transcription factor – a gene product that helps control the expression of other genes.

This means a mutation in the FOXP2 gene can start a chain of events that can lead to reduced expression, or possibly even no expression, of a number of other genes.

Phelps and his team are figuring out what activates FOXP2 expression and the genes that are expressed after its activation by playing singing mice recording of songs from their own species and neighboring species and observing the gene expression patterns.

“We found that when an animal hears a song from the same species, these neurons that carry FOXP2 become activated. So we think that FOXP2 may play a role in integrating that information,” said Lauren O’Connell, a post-doctoral researcher in the Phelps lab.

Learning what activates FOXP2 and what genes are activated by it could provide clues into how outside stimuli affects gene expression and what genes are important in the understanding and integration of information, said Phelps.

“We ask two things, whether there are sequence changes in the DNA that are associated with the elaboration of the song and whether particular elements seem to be interacting with FOXP2 more,” said Phelps. “That gives us leads into what role FOXP2 might play into the elaboration of vocalization.”

Big Data Mining

Phelps’ uses next-generation sequencing to decipher how FOXP2 interacts with DNA to regulate the function of other genes. The process involves reading tiny fragments of overlapping DNA so that the entire sequence can be deduced. It is a procedure that generates massive amount of data that only the processing power of a supercomputer can handle, said O’Connell.

“You need TACC to do it,” said O’Connell, referring to the Texas Advanced Computing Center, which houses the supercomputers the lab uses. “The more data you have, the more memory it requires, so a lot of the data we can only process on Lonestar’s high memory nodes.”

Lonestar and Ranger are the names of the two supercomputers that the Phelps lab uses to crunch their data, with Ranger running programs in two hours that used to take the lab three days to run on their desktop. Both computers are among the top 100 supercomputers in the world.

Future Applications

At the most basic level, Phelps’ research is asking questions about the biology and behavior of an exotic rodent. But finding out more about the link between FOXP2 and the song of the signing mouse could bring a better understanding into how the gene may contribute to language deficits in people, especially those with autism, said Phelps.

“When people do genome wide association studies in humans the genetic variation tends to occur in huge blocks. So if you get some DNA sequence that predicts a phenotype, like risk for autism, it’s very hard to know what aspect in this very long stretch of DNA is actually important for that,” said Phelps.

By identifying the sequences of DNA that interact with FOXP2 and other associated genes that are most vital to gene function, researchers in the future might be able to narrow down the “huge blocks” where a possible causal sequence is located into smaller pieces. In other words, reducing the size of the metaphorical haystack to a size where finding the needle is a much simpler task.

While a singing mouse may seem like a strange place to look to study the impact of genetics on language, O’Connell says that the advent of gene sequencing technology is allowing a whole menagerie of animals to be used for research that could later be applied to humans.

“I use TACC to sequence a lot of different animals: birds and fish and frogs and mammals and beetles,” said O’Connell, mentioning the other organisms she studies outside of the Phelps lab. “Each of these model systems has something unique to contribute that teaches us about biology that is still applicable to humans.”

Article adapted by Medical News Today from original press release. Click ‘references’ tab above for source.
Visit our genetics section for the latest news on this subject. Please use one of the following formats to cite this article in your essay, paper or report:


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‘Research On Language Gene Seeks To Uncover The Origins Of The Singing Mouse’

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Kerry’s Korner #3: Our Community Lights It Up Blue

This blog post is by Autism Speaks staff Kerry Magro. Kerry, an adult who has autism, is a graduate student at Seton Hall University and is filming a video series called “Kerry’s Korner” for Autism Speaks Light It Up Blue Initiative. Kerry recently started a new video blog called “My Autism My Voice,” where he discusses a variety of topics. If you would like to contact him directly about questions/comments related to this post he can be reached at kerry.magro@autismspeaks.org or through his Facebook page here.

Ever since the Light It Up Blue homepage went live, people having been making pledges to Light It Up Blue on April 2nd. In addition, countless individuals have been posting photos in the gallery section of the website. In this video I show everyone a few of these photos and why our community will be lighting it up blue! How will you be lighting it up blue this year?

Join Autism Speaks in celebrating World Autism Awareness Day on April 2 and Light It Up Blue to help shine a light on autism. Whether it’s your front porch or your local city hall, an office party or a banquet, the whole world is going blue to increase awareness about autism.
Light It Up Blue, in its third year, is a unique global initiative to help raise awareness about the growing public health concern that is autism. Iconic landmarks around the world will Light It Up Blue to show their support.

Join us now and help shine a light on autism at www.lightitupblue.org

Kerry’s Korner theme song written and produced by Kyle Cousins.

“It’s like I don’t have autism when I’m on stage”. For Kyle, being on stage unleashes his boundless creativity and allows him a place where he can totally be himself and feel free of all rules. Offstage, Music has been a great gift to his life. He has been singing since childhood and music has also became a tool to unlock vocabulary. On discovering that he could write music during high school it literally opened a new world for him. It allowed him a way to express his feelings and insights about himself and others that had not been available to him before. Kyle says that what he loves about writing music is that “there are no rules”.  

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