Fragile-X Syndrome (FXS): Spaced training improves long term memory

Prominent characteristics of the syndrome include an elongated face, large or protruding ears, and low muscle tone. 

Credit: Wikipedia

Research on mice with Fragile X syndrome (FXS) suggests that multiple, spaced training sessions can enhance learning and long term memory when longer, continuous sessions do not.

Christine Gall and colleagues at the University of California Irvine tested mice with FXS on their ability to remember objects and locations and found that multiple training sessions, with 60-minutes breaks, allowed them to perform as well as healthy mice.

The research appears in the Proceedings of the National Academy of Sciences.

FXS is the most common cause of inherited intellectual disability. Previous studies have shown that mice with this condition have a problem with synaptic signaling in the hippocampus, which affects their ability to create long term memories.

Christine Gall

Gall's team wanted to see if they could create a training regime that would help overcome synaptic signaling problems and enable mice with FXS to learn normally.

They knew that individuals tend to learn better when trained in short, spaced trials rather than a single, long training episode, so they tested whether spaced training would help FXS mice.

The researchers tested the mice on object location memory (OLM) and novel object recognition (NOR).

To test OLM, they placed a mouse in a chamber that also contained two identical objects.

They gave the mouse time to examine the objects and remember their locations, and then removed the mouse. When the mouse was gone, the researchers moved one of the objects.

They then returned the mouse to the chamber. If the mouse spent more time exploring the new location than the old location, it was a sign that it had remembered the original location.

NOM testing involved replacing one of the identical objects with a different object, without changing its location.

Mice that spent more time examining the new object showed that they had remembered the original object.

After undergoing five minutes of continuous training and being removed from the chamber for 24 hours, wild mice recognized that one of the objects had moved or been replaced, but FXS mice did not.

However, when the researchers divided the training into three 100-second trials, with 60-minute intervals between them, the FXS mice performed about as well as the wild mice.

Gall's team examined hippocampal tissue from the mice and found that control FXS mice had problems with the activation of ERK1/2, a kinase needed for memory encoding.

Spaced training corrected this problem and restored proper signaling between synapses.

More information: Spaced training rescues memory and ERK1/2 signaling in fragile X syndrome model mice, PNAS, Ronald R. Seese, DOI: 10.1073/pnas.1413335111

Self-esteem: Research reveals the cultural origins

What gives you self-worth? University of Sussex research shows our self-esteem is based on the prevailing values of our culture.

Whatever our personal values, we largely base our self-worth on living up to the prevailing values of our culture, new University of Sussex-led research reveals.

Vivian Vignoles

Sussex social psychologists Dr Vivian Vignoles and Dr Maja Becker collaborated with a global team of researchers to address a long-standing debate about what influences our self-esteem.

Their findings are published online this month (12th February, 2014) in the Personality and Social Psychology Bulletin.

More than 5,000 adolescents and young people in 19 countries spanning Western and Eastern Europe, the Middle East, South America, Africa and Asia took part in the research.

Participants were found to base their self-worth on living up to the prevailing values of others in their cultural contexts, but—surprisingly—their own personal values appeared to have little or no influence on self-esteem.

Dr Vignoles explains: "We can all think of different things that make us see ourselves positively, whether it is succeeding at work or school, our relationships with friends and family, behaving morally towards others, or having the right possessions—as well as other aspects of ourselves that we may feel less good about. But what gives these things their importance?

"An intuitive answer would be that every individual bases their self-esteem on living up to the values that they personally see as most important—and this has been the dominant view in psychology for over 100 years. But firm evidence for this idea has been surprisingly elusive.

"Our new findings paint a very different picture, suggesting that it is the value priorities of others in the surrounding context, not the individual's own value priorities, that predict which aspects of ourselves will give us the greatest sense of self-worth."

Funded by the Economic and Social Research Council (UK), the research was conducted by the Culture and Identity Research Network, directed by Dr Vignoles.

Research participants were initially asked to list ten aspects of themselves in answer to the question "Who are you?".

Their answers were very wide ranging, including descriptions of their personality characteristics, important relationships, social roles and group memberships.

Participants were subsequently asked: "How much does each of these things make you see yourself positively?"

The researchers used further data from the questionnaires to predict which aspects of themselves each participant would see as providing the greatest sense of self-esteem.

The results showed that participants derived the most self-esteem from aspects of their identities that best fulfilled the values of their surrounding culture.

For example, participants in cultural contexts where people most emphasized values such as self-direction and having a stimulating life (e.g., the UK, Western Europe, and some parts of South America) were more likely to derive self-esteem from controlling their own lives, whereas those in cultures where there was relatively more emphasis on values such as conformity, tradition, and security (e.g., parts of the Middle East, Africa, and Asia) were relatively more likely to derive self-esteem from doing their duty.

Dr Vignoles comments: "Popular psychology and self-help books often seem to imply that people can build self-esteem on their own. These findings should remind us that no-one is an island. Building self-esteem is mostly a collaborative enterprise."

"Our research suggests that the self-esteem system is an important way in which individuals internalise the values of their culture on an implicit level, even if they do not profess to believe in these values when they are asked explicitly."

"These subtle processes may encourage people to act in ways that are desirable in their society, and thus help to maintain social solidarity."

More information: "Cultural bases for Self-Evaluation: Seeing Oneself Positively in Different Cultural Contexts", lead authors Dr Maja Becker and Dr Vivian Vignoles, is published in Personality and Social Psychology Bulletin. dx.doi.org/10.1177/0146167214522836

Study links Synaesthesia to Autism

A condition where people experience a mixing of the senses, such as tasting words, has been linked with autism.

Research suggests synaesthesia is nearly three times as common in adults with autism spectrum disorder than in the general population.

The two conditions may share common features such as unusual wiring of the brain, say UK scientists.

The study helps understanding of how people with autism experience life, says the National Autistic Society.

Synaesthesia is a condition where one sense automatically triggers another. Some people experience tastes when they read or hear words, some perceive numbers as shapes, others see colours when they hear music.

People with synaesthesia might say: "The letter q is dark brown," or: "The word 'hello' tastes like coffee," for example. People with the condition [autism] can find everyday life confusing or even frightening so research like this, which helps us to understand more about how they experience the world, is valuable” 

Carol Povey, National Autistic Society

Following anecdotal evidence of links between synaesthesia and Asperger's syndrome, researchers at the Autism Research Centre at Cambridge University set out to test the idea.

More than 200 study participants - 164 adults diagnosed with high-functioning autism or Asperger's syndrome, and 97 adults without autism - were asked to fill in questionnaires to measure synaesthesia and autism traits.

The study found one in five adults with autism spectrum conditions - a range of related developmental disorders, including autism and Asperger's syndrome - had synaesthesia compared with about 7% of people with no signs of the disorders.

Prof Simon Baron-Cohen, who led the research, told reporters: "Synaesthesia involves a mixing of the senses and it's a very subjective private experience, so the only way we know it's happening is if you ask people to report on their experiences.

"And what this new study has done is ask people whether they experience synaesthesia, for example where a sound triggers the experience of colour or a taste triggers the experience of colour, and finding that these unusual experiences are actually much more common in autism than we previously knew."

The research, to be published in the journal Molecular Autism, suggests that while the two conditions might appear distinct, there could actually be some underlying similarities in brain connectivity.

More information: Is synaesthesia more common in autism? Authors: Simon Baron-Cohen, Donielle Johnson, Julian Asher, Sally Wheelwright, Simon E Fisher, Peter K Gregersen, Carrie Allison. In Molecular Autism (November 1st, 2013). www.molecularautism.com/content/4/1/40

Children with Autism: New Study questions traditional 'top down' research

The paper describes that rather than a single entity, autism is multiple disorders. Credit: CampASCCA

Information from the families of 1200 children with autism will be collected from next month to begin the largest autism data study in Australia which includes a team of WA researchers.

Telethon Institute of Child Health Research's Andrew Whitehouse says the project involves several prominent research groups across the nation under the umbrella of the Autism Co-operative Research Centre for Living with Autism Spectrum Disorders which received $31 million over eight years from the Federal Government earlier this year.

Professor Whitehouse says the centre will further extensive work by Telethon including its recent "proof of principle" research which advocates a new approach to autism investigation and whose findings have been documented in the Frontiers of Human Science Journal.

Prof Whitehouse says rather than using the traditional "top-down" approach to investigate the causes of autism, it takes the other end of the "causal pathway," starting with the factors that may produce the disorder.

The paper describes that it is now widely accepted that rather than a single entity, autism is multiple disorders. The variability in the nature and severity of behaviours is thought to exceed that of any other.

"What researchers tend to do is look at behaviours, classify people based on that and then look for genetic or biochemical markers that might be associated with those behaviours," Prof Whitehouse says.

"What we're suggesting is going at it the other way; look at genetic or environmental factors that are known to be associated with autism and look at whether they are then associated with behaviours."

He says after 70 years, researchers are frustrated by not being able to find a clear causal pathway but the only way research can proceed is through large collaborations.

"One lab group alone is not going to be able to solve the riddle of autism—that's just not going to happen," he says.

"We need large numbers of participants who can do both the "top-down" and "bottom-up" approach and that's what we're proposing."

The recently published "bottom-up" study selected participants from the WA Autism Biological Registry to analyse two areas previously linked to ASD diagnoses; low birth weight and maternal use of selective serotonin reuptake inhibitors (SRIs) during pregnancy.

These are found in medications used to treat anxiety and major depression.

Prof Whitehouse says the study provides a blueprint for a "bottom-up" approach, which creates smaller homogenous sub-groups with the autism spectrum, compared with a costly top down approach which requires larges sample sizes.

More Information: 'A “bottom-up” approach to aetiological research in autism spectrum disorders' Lisa M. Unwin1, Murray T. Maybery, John A. Wray and Andrew J. O. Whitehouse.

Autism: Research focused on Men, Women are different

Autism affects different parts of the brain in females with autism than males with autism, a new study reveals. The research is published today in the journal Brain as an open-access article.

Scientists at the Autism Research Centre at the University of Cambridge used magnetic resonance imaging to examine whether autism affects the brain of males and females in a similar or different way.

They found that the anatomy of the brain of someone with autism substantially depends on whether an individual is male or female, with brain areas that were atypical in adult females with autism being similar to areas that differ between typically developing males and females. This was not seen in men with autism.

"One of our new findings is that females with autism show neuroanatomical 'masculinization'," said Professor Simon Baron-Cohen, senior author of the paper.

"This may implicate physiological mechanisms that drive sexual dimorphism, such as prenatal sex hormones and sex-linked genetic mechanisms."

Simon Baron-Cohen

Autism affects 1% of the general population and is more prevalent in males. Most studies have therefore focused on male-dominant samples.

As a result, our understanding of the neurobiology of autism is male-biased.

"This is one of the largest brain imaging studies of sex/gender differences yet conducted in autism. Females with autism have long been under-recognized and probably misunderstood," said Dr Meng-Chuan Lai, who led the research project.

"The findings suggest that we should not blindly assume that everything found in males with autism applies to females. This is an important example of the diversity within the 'spectrum'."

Dr Michael Lombardo

Dr Michael Lombardo, who co-led the study, added that although autism manifests itself in many different ways, grouping by gender may help provide a better understanding of this condition.

He said: "Autism as a whole is complex and vastly diverse, or heterogeneous, and this new study indicates that there are ways to subgroup the autism spectrum, such as whether an individual is male or female."

"Reducing heterogeneity via subgrouping will allow research to make significant progress towards understanding the mechanisms that cause autism."

More TV time equals higher consumption of sweetened beverages among children

Stina Olafsdottir

More time in front of the TV set and higher exposure to TV adverts may lead to increased consumption of sweetened beverages among children.

This is the conclusion of a new study from the University of Gothenburg, Sweden.

The parents of more than 1,700 two- to four-year-olds in Sweden responded to questions about their children's TV and screen habits and consumption of sweetened drinks.

About one parent in seven indicated that they tried to reduce their children's exposure to TV adverts; the same parents stated that their children were less prone to drink soft drinks and other sweetened beverages.

Children of parents who were less strict about TV adverts were twice as likely to consume sweetened beverages every week.

The study was conducted in 2007–2010 as part of the EU research project IDEFICS – Identification and Prevention of Dietary and Lifestyle -Induced Health Effects in Children and Infants.

It reveals a very clear link between children's TV habits and their consumption of sweetened drinks. 'The children who watched more TV were more likely to drink these beverages.

In fact, each additional hour in front of the TV increased the likelihood of regular consumption by 50 per cent.

A similar link was found for total screen time,' says Stina Olafsdottir, PhD student at the Department of Food and Nutrition, and Sport Science and one of the researchers behind the study.

The study also found that children with higher exposure to food adverts on TV were more likely to consume sweetened beverages on a regular basis in a follow-up study conducted two years after the initial study.

However, exposure to TV adverts could not explain the link between TV habit and beverage consumption entirely.

It is therefore likely that the TV programmes watched also matter or that children simply enjoy drinking these types of beverages while watching TV.

The article Young children's screen habits are associated with consumption of sweetened beverages independently of parental norms is published in the International Journal of Public Health.

More information: Olafsdottir, S. et al. Young children's screen habits are associated with consumption of sweetened beverages independently of parental norms, International Journal of Public Health. link.springer.com/… 8-013-0473-2

ADHD: Research shows how Ritalin affects Children's brains

Ritalin activates specific areas of the brain in children with attention-deficit/hyperactivity disorder (ADHD), mimicking the brain activity of children without the condition, a new review says.

"This suggests that Ritalin does bring the brain [of a child with ADHD] back to the brain the typically developing kid has," said study author Constance Moore, associate director of the translational center for comparative neuro-imaging at the University of Massachusetts Medical School.

Analyzing data from earlier studies that looked at how children's brains were affected by doing certain tasks that are sometimes challenging for kids with ADHD, the researchers found that Ritalin (methylphenidate) was having a visible impact on three areas of the brain known to be associated with ADHD: the cortex, the cerebellum and the basal ganglia.

Constance Moore

The study could be helpful in diagnosing and treating children with ADHD, Moore said. "It may be helpful to know that in certain children, Ritalin is having a physiological effect in the areas of the brain involved with attention and impulse control," she said.

The research was published recently in the Harvard Review of Psychiatry.

Nine studies analyzed by the researchers used functional MRI to evaluate brain changes after children had taken a single dose of Ritalin.

The children were involved in different types of tasks that tested their ability to focus and inhibit an impulse to act.

For example, to observe the brain's reaction during a test of what is called "inhibitory control," a child was told that every time he saw a zero show up on a screen, he should push the button on the right; every time he saw an X appear, he should push the left button.

The children would then be asked to flip their responses, pushing the left button when they saw a zero.

"That's hard to do," Moore said, "because you've developed the habit [of pushing the other button], so you have to suppress your impulse.

If you do 20 zeros and keep pressing and then you see an X, most kids with ADHD will hit the wrong button."

In three out of five of the inhibitory control studies, Ritalin at least partially normalized brain activation in ADHD children.

To note how the brain reacted to a selective attention test, Moore said, children would first be asked, for example, what word they were seeing.

The word would be "red," and the colour of the type also would be red. Then they would be shown the word "red," but the colour of the type would be green.

In several studies, Ritalin affected activation in the frontal lobes during such inhibitory control tasks. Most of the studies included in the review were performed in the United States or the United Kingdom.

The majority of participants were adolescent boys, and all studies compared their results to healthy children of the same approximate age.

Because none of the studies looked at the correlation between ADHD symptoms and whether the child was taking Ritalin, there is no way to link the changes in brain activation with clinical improvement, Moore said.

"It's possible that kids who are not responsive to Ritalin may have brain changes too," she said. ADHD affects between 3 percent and 7 percent of school-aged children in the United States, according to the American Psychiatric Association.

Boys are more likely to have ADHD than girls. One expert was not surprised by the results.

Andrew Adesman

"The review article shows there is a consensus of well-designed imaging studies showing that [Ritalin] has an impact on the frontal cortex of the brain, where we have long believed these patients have issues," said Dr. Andrew Adesman, chief of developmental and behavioural pediatrics at the Steven & Alexandra Cohen Children's Medical Center of New York, in New Hyde Park.

Adesman wondered if Ritalin may play a role in helping the brain mature. "Their data provides partial support for that," he said.

"But if anything, the medicine seems to help the brain look more normal and doesn't seem to do anything bad to it."

More information: Learn more about ADHD from the U.S. Centers for Disease Control and Prevention.

Autism: Vaccine Developed against gut bug, Clostridium bolteae

Brittany Pequegnat 

A first-ever vaccine created by University of Guelph researchers for gut bacteria common in autistic children may also help control some autism symptoms.

The groundbreaking study by Brittany Pequegnat and Guelph chemistry professor Mario Monteiro appears this month in the journal Vaccine.

They developed a carbohydrate-based vaccine against the gut bug, Clostridium Bolteae.

C. bolteae is known to play a role in gastrointestinal disorders, and it often shows up in higher numbers in the GI tracts of autistic children than in those of healthy kids.

More than 90 per cent of children with autism spectrum disorders suffer from chronic, severe gastrointestinal symptoms.

Of those, about 75 per cent suffer from diarrhea, according to current literature. "Little is known about the factors that predispose autistic children to C. bolteae," said Monteiro.

Although most infections are handled by some antibiotics, he said, a vaccine would improve current treatment.

Mario Monteiro

"This is the first vaccine designed to control constipation and diarrhea caused by C. bolteae and perhaps control autism-related symptoms associated with this microbe," he said.

Autism cases have increased almost sixfold over the past 20 years, and scientists don't know why.

Although many experts point to environmental factors, others have focused on the human gut. Some researchers believe toxins and/or metabolites produced by gut bacteria, including C. bolteae, may be associated with symptoms and severity of autism, especially regressive autism.

Pequegnat, a master's student, and Monteiro used bacteria grown by Mike Toth, a Guelph PhD student in the lab of microbiology professor Emma Allen-Vercoe.

The new anti- C. bolteae vaccine targets the specific complex polysaccharides, or carbohydrates, on the surface of the bug.

The vaccine effectively raised C. bolteae-specific antibodies in rabbits. Doctors could also use the vaccine induced antibodies to quickly detect the bug in a clinical setting, said Monteiro.

The vaccine might take more than 10 years to work through pre-clinical and human trials, and it may take even longer before a drug is ready for market, Monteiro said.

"But this is a significant first step in the design of a multivalent vaccine against several autism-related gut bacteria," he said.

Monteiro has studied sugar-based vaccines for two other gastric pathogens: Campylobacter jejuni, which causes travellers' diarrhea, and Clostridium difficile, which causes antibiotic-associated diarrhea.

Autism: MEG Research Advances Detection from brain activity

Roberto Fernández Galán

Neuroscientists from Case Western Reserve University School of Medicine and the University of Toronto have developed an efficient and reliable method of analyzing brain activity to detect autism in children.

Their findings appear today in the online journal PLOS ONE. The researchers recorded and analyzed dynamic patterns of brain activity with magnetoencephalography (MEG) to determine the brain's functional connectivity – that is, its communication from one region to another.

MEG measures magnetic fields generated by electrical currents in neurons of the brain. Roberto Fernández Galán, PhD, an assistant professor of neurosciences at Case Western Reserve and an electrophysiologist seasoned in theoretical physics led the research team that detected autism spectrum disorder (ASD) with 94 percent accuracy.

The new analytic method offers an efficient, quantitative way of confirming a clinical diagnosis of autism.

"We asked the question, 'Can you distinguish an autistic brain from a non-autistic brain simply by looking at the patterns of neural activity?' and indeed, you can," Galán said.

"This discovery opens the door to quantitative tools that complement the existing diagnostic tools for autism based on behavioural tests."

In a study of 19 children—nine with ASD—141 sensors tracked the activity of each child's cortex.

The sensors recorded how different regions interacted with each other while at rest, and compared the brain's interactions of the control group to those with ASD.

Researchers found significantly stronger connections between rear and frontal areas of the brain in the ASD group; there was an asymmetrical flow of information to the frontal region, but not vice versa.

The new insight into the directionality of the connections may help identify anatomical abnormalities in ASD brains.

Most current measures of functional connectivity do not indicate the interactions' directionality. "It is not just who is connected to whom, but rather who is driving whom," Galán said.

Their approach also allows them to measure background noise, or the spontaneous input driving the brain's activity while at rest.

A spatial map of these inputs demonstrated there was more complexity and structure in the control group than the ASD group, which had less variety and intricacy.

This feature offered better discrimination between the two groups, providing an even stronger measure of criteria than functional connectivity alone, with 94 percent accuracy.

Case Western Reserve's Office of Technology Transfer has filed a provisional patent application for the analysis' algorithm, which investigates the brain's activity at rest.

Galán and colleagues hope to collaborate with others in the autism field with emphasis on translational and clinical research.

Phonics: Children who do not respond

What happens when a child cannot learn to read through phonics? 

Educational researchers call these children nonresponders or  treatment-resisters. They use these terms because direct and intensive teaching of phonetic skills is usually the first approach taken to help a young child who is falling behind but a surprisingly large number of children fail to progress to phonics-based interventions.  

Researchers have found that 25% to 50% of children with learning disabilities fall within this category. That is, one-fourth to one-half of kids with reading difficulties won't learn with the methods that are most likely to be offered at their schools. That is a higher percentage than the reported number of children with dyslexia.

New research confirms that the children who do not progress with traditional phonics-based tutoring are highly likely to be dyslexic. 

Unfortunately, schools often follow up the failed intervention with more of the same -- the teachers try harder, reasoning that the child must need to have more repetition and practice to learn but the research evidence also shows that the children who do not learn from phonics-based teaching at the outset do not improve over time; if anything, their performance tends to get slightly worse.   

Most dyslexic kids will struggle to learn to read that way, and those who struggle at the outset will continue to find traditional approaches to reading to be difficult or near-impossible. 

Learn more about the Davis Method:

• Is your child a nonresponder?  
• Research Update: Nonresponders & Dyslexia
• Davis Methods - A Brief Explanation 

Smart Babies: Research Explores Infants' Skills and Abilities

Infants seem to develop at an astoundingly rapid pace, learning new things and acquiring new skills every day. And research suggests that the abilities that infants demonstrate early on can shape the development of skills later in life, in childhood and beyond.

How Do You Learn to Walk? Thousands of Steps and Dozens of Falls per Day
In this study, Adolph and colleagues recorded 15- to 60-minute videos of spontaneous activity from infants.

They then coded the videos for the time infants spent walking and crawling, the number of crawling and walking steps infants took, and the number of falls infants experienced whether walking or crawling.

The researchers found that the infants moved a tremendous amount and that new walkers moved faster than crawlers but had a similar number of falls at first and fewer as they became more experienced.

This suggests that infants are motivated to begin walking because they move faster without falling more and that they dramatically improve their walking skills through immense amounts of practice.

Implications of Infant Cognition for Executive Functions at Age 11
Do basic information processing skills in infancy have any bearing on later executive functioning skills in children?

Infants were assessed for memory, processing speed, and attention at age 7-12 months and age 24-36 months.

When they were 11 years old, the children returned to the lab and were assessed for various different kinds of executive functioning skills, including working memory, inhibition, and shifting.

Rose and colleagues created a statistical model that used infant abilities to predict executive functioning later in childhood and they found that this model fit the data well.

The model indicated that processing speed in infancy significantly predicted working memory and shifting ability at age 11 and that memory in infancy significantly predicted shifting at age 11.

This research supports the idea that infant cognitive abilities provide a foundation for the later development of executive functioning abilities.

One-Year-Old Infants Follow Others' Voice Direction
Can infants determine what adults are paying attention to by listening to their voices? Yes!

Rossano and colleagues conducted an experiment in which infants were placed in front of a wooden barrier that had a box sticking out of either side.

A member of the research team hid behind the barrier and spoke in the direction of one of the boxes.

The researchers then watched to see which box the infants moved toward. Rossano and colleagues found that infants moved toward the box that was in the direction of the researcher's vocalisation.

A follow-up study that examined the same task with chimpanzees found that they showed no ability to follow voice direction.

This suggests that infants -- but perhaps not chimpanzees -- can infer what an adult is paying attention to based on voice alone.

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Story Source:

The above story is reprinted from materials provided by Association for Psychological Science.

Scientists uncover secrets of how intellect and behavior emerge during childhood

Scientists from the Florida campus of The Scripps Research Institute (TSRI) have shown that a single protein plays an oversized role in intellectual and behavioral development.

The scientists found that mutations in a single gene, which is known to cause intellectual disability and increase the risk of developing autism spectrum disorder, severely disrupts the organization of developing brain circuits during early childhood.

This study helps explain how genetic mutations can cause profound cognitive and behavioral problems.

The study was published in the Nov. 9, 2012, issue of the journal Cell.

The genetic mutations that cause developmental disorders, such as intellectual disability and autism spectrum disorder, commonly affect synapses, the junctions between two nerve cells that are part of the brain's complex electro-chemical signaling system.

A substantial percentage of children with severe intellectual and behavioral impairments are believed to harbor single mutations in critical neurodevelopmental genes.

Until this study, however, it was unclear precisely how pathogenic genetic mutations and synapse function were related to the failure to develop normal intellect.

"In this study, we did something no one else had done before," said Gavin Rumbaugh, a TSRI associate professor who led the new research.

"Using an animal model, we looked at a mutation known to cause intellectual disability and showed for the first time a causative link between abnormal synapse maturation during brain development and life-long cognitive disruptions commonly seen in adults with a neurodevelopmental disorder."

Losing Balance
The study focused on a critical synaptic protein known as SynGAP1. Mutations in the gene that encodes this protein cause disabilities in an estimated one million people worldwide, according to the paper.

"There are a few genes that can't be altered without affecting normal cognitive abilities," Rumbaugh said. "SynGAP1 is one of the most important genes in cognition -- so far, every time a mutation that disrupts the function of SynGAP1 has been found, that individual's brain simply could not develop correctly.

It regulates the development of synaptic function like no other gene I've seen."

Using animal models that were missing just one copy of SynGAP1, as seen in some patients with intellectual disability, the scientists found that certain synapses develop prematurely in the period shortly after birth.

This dramatically enhances what is known as "excitability" -- how often brain cells fire -- in the developing hippocampus, a part of the brain critical for memory.

The balance between excitability and inhibition is especially critical during early developmental periods, when neural connections that ultimately give rise to normal cognitive and behavioral functions are forming.

"You might think this accelerated development of brain circuits would make you smarter," Rumbaugh said. "But the increased excitability actually disorganizes brain development.

We think that early maturation of these excitatory synapses disrupts the timing of later developmental milestones.

It rains down chaos on this complex process, preventing normal intellectual and behavioral development."

Read the full article here 

Stanford Study: Reading Jane Austen to examine attention and distraction

Researcher Natalie Phillips positions an eye-tracking device on Matt Langione

During a series of ongoing experiments, fMRI images track blood flow in the brains of subjects as they read excerpts of a Jane Austen novel.

Experiment participants are first asked to leisurely skim a passage as they might do in a bookstore, and then to read more closely, as they would while studying for an exam.

The researchers said the global increase in blood flow during close reading suggests that “paying attention to literary texts requires the coordination of multiple complex cognitive functions.”

Blood flow also increased during pleasure reading, but in different areas of the brain suggesting that each style of reading may create distinct patterns in the brain that are “far more complex than just work and play.”

The experiment focuses on literary attention, or more specifically, the cognitive dynamics of the different kinds of focus we bring to reading.

The researchers expected to see pleasure centers activating for the relaxed reading and hypothesized that close reading, as a form of heightened attention, would create more neural activity than pleasure reading.

If the ongoing analysis continues to support the initial theory…teaching close reading (i.e., attention to literary form) “could serve – quite literally – as a kind of cognitive training, teaching us to modulate our concentration and use new brain regions as we move flexibly between modes of focus.”

Pioneering Stanford study uses Jane Austen texts to examine attention and distraction during reading, suggesting different modes of reading may serve as valuable cognitive training for concentration.

Also see graphing Jane Austen.

Eye test detects sexual orientation

Although there was a popular belief that sexual orientation can be revealed by pupil dilation in response to attraction, there was no scientific evidence until now.

For the first time, researchers at Cornell University used a specialized infrared lens to measure pupillary changes to participants watching erotic videos.

Their findings are published August 3 in the journal PloS ONE.

Previous research explored these mechanisms either by simply asking people about their sexuality or by using such physiological measures as assessing their genital arousal. These methods, however, come with substantial problems.

“We wanted to find an alternative measure that would be an automatic indication of sexual orientation but without being as invasive as previous measures. Pupillary responses are exactly that,” says Gerulf Rieger, lead author and Cornell postdoctoral associate, who conducted the study with Ritch C. Savin-Williams, professor of human development and director of the Sex and Gender Lab.

“With this new technology, we are able to explore sexual orientation of people who would never participate in a study on genital arousal, such as people from traditional cultures,” says Rieger. “This will give us a much better understanding how sexuality is expressed across the planet.”

The new study adds considerably more to the field of sexuality research than just a new measurement, say the authors.

As expected, heterosexual men showed strong pupillary responses to sexual videos of women, and little to men; heterosexual women, however, showed pupillary responses to both sexes.

This result confirms previous research suggesting that women and men’s sexuality work differently.

Straight from the Source DOI: 10.1371/journal.pone.0040256

Middle ear microphone aims to improve cochlear implants

U.S researchers are developing a tiny middle ear "microphone" that could remove the need for any external components on cochlear implants.

Led by University of Utah engineer Darrin J. Young, the research team has produced and tested a prototype of the device which uses an accelerometer attached to the tiny bones of the middle ear to detect sound vibration.

Conventional cochlear implants use an externally worn microphone, speech processor and electromagnetic transmitter, along with an implanted receiver and stimulator that's wired to the auditory nerves.

When sounds are picked up by the microphone and transmitted to the nerves via the internal stimulator, the patient hears.

While it has given hearing to hundreds of thousands of people around the world, this approach still has its drawbacks in terms of practicality, reliability and social perception.

“It’s a disadvantage having all these things attached to the outside” of the head, Young says. “Imagine a child wearing a microphone behind the ear. It causes problems for a lot of activities. Swimming is the main issue. And it’s not convenient to wear these things if they have to wear a helmet.”

While the conventional design doesn't make use of the ear canal and eardrum, Young's device does. It consists of a speech processor and transmitter implanted under the skin of the skull along with an accelerometer and a low-power silicon chip attached to the umbo (the point at which the eardrum connects to the three tiny ear bones).

This enables it to detect vibration of the eardrum (as occurs in normal hearing). From there the system acts like a conventional cochlear implant, transmitting vibrations as electrical signals to electrodes in the cochlea.

The use of an accelerometer rather is a key to the design. Unlike standard microphones that use a diaphragm to detect sound vibrations, the accelerometer won't become clogged by growing tissue when implanted.

There is also a caveat - users would still have to wear a charger behind the ear while asleep to recharge the battery.

Researchers found that the implant works best if the incus (anvil bone) is first removed surgically.

Young says tests in people are about three years away and has created this recording (with output going to a speaker rather than implanted electrodes) to demonstrate the device. Recognize the tune?

The research is published online in the Institute of Electrical and Electronics Engineers journal Transactions on Biomedical Engineering.

Source: University of Utah

Autism: Link Found In Gene Mutations From Father

The number of Americans diagnosed with autism has skyrocketed since 2002. Now it affects every one in 88 children.

One of the biggest barriers to finding an effective treatment is that the cause of autism isn't known but biotechnology advances are shedding new light on the possible role of genetics.

"Ten years ago it was as if we were looking through binoculars, when we were looking at autism through a microscope, and now it's like looking at it in high definition," Andy Shih, vice president of scientific affairs for the advocacy group Autism Speaks, reported.

Now three separate studies, all published on Thursday in the journal Nature, have identified several gene mutations, many inherited from fathers, that may play a role.

"There's no one gene that causes autism," James Sutcliffe, co-author of one study and an associate professor of molecular physiology at Vanderbilt University stated.

"But what these studies do show is that several genetic mutations increase the risk of getting autism and different mutations may affect people in a different way."

The genes are likely inherited through the paternal line because as a man ages, his sperm cells are constantly dividing, which provides more opportunity for mutations to occur.

Women, on the other hand, are born with all of the egg cells they will have for life.

Each study found multitudes of mutated genes in autistic children but among the three, only two genes were found in more than one patient, suggesting to researchers that they may be the biggest risk factors.


"That is like throwing a dart at a dart board with 21,000 spots and hitting the same one twice," Dr. Matthew State, co-author of the second study and a professor of psychiatry at the Child Study Centre, Yale, told reporters. "The chances that this gene is related to autism risk are something like 99.9999 percent."


Some Opposition
Clearly, some researchers aren't considering this the breakthrough the study authors claim.

"This is a great beginning, and I'm impressed with the work, but we don't know the cause of these rare mutations, or even their levels in the general population," Aravinda Chakravarti, researcher at the John Hopkins Institute of Genetic Medicine, replied.

"I'm not saying it's not worth it to follow up these findings, but I am saying it's going to be a hard slog."

Approximately 15 percent of all autistic children will have some form of these genetic mutations, according to one of the studies but researchers said diagnosing autism by the gene mutations is still a long way off.

"The genes highlighted are clearly the most convincing susceptibility genes that have been identified so far, but they only explain a small picture of autism," Dr. Mark Daly, coauthor of Sutcliffe's study and chief of the Analytic and Translational Genetics Unit (ATGU) at Massachusetts General Hospital, reported.

Future research will focus on identifying other mutations that could play a role, researchers said.

Going Forward
"Now we have a real path forward," State said. "As you start to accumulate these individual genes that you know are related, that opens the door to understanding the biology. Once you know the gene, you can examine the protein it makes. Then, even in people who don't have the damaged gene, adding that protein may help because a deficit in that protein might result in their autism via a different pathway."

Scientists Link Rare Gene Mutations to Heightened Risk of Autism

Three teams of scientists working independently to understand the biology of autism have for the first time homed in on several gene mutations that they agree sharply increase the chances that a child will develop the disorder, and have found further evidence that the risk increases with the age of the parents, particularly the father.

The gene mutations are extremely rare and together account for a tiny fraction of autism cases, suggesting that the search for therapies will be a long one, and that what is loosely known as autism may represent a broad category of related but biologically distinct conditions.

There are likely hundreds, perhaps thousands, of rare mutations that could disrupt brain development enough to result in social and developmental delays.

But experts said that the overlapping results, reported in three papers posted online Wednesday in the journal Nature, give scientists working on the genetics of autism something they have not had: a clear strategy for building a real understanding of the disease’s biological basis.

Researchers hope to find more similar, rare mutations in the next year or so that they estimate could account for 10 percent to 20 percent of all cases.

Biologists have been groping in vain for a reliable, verifiable foothold from which to investigate the underlying genetics of so-called autism spectrum disorders, including Asperger syndrome and related social difficulties that are being diagnosed at alarmingly high rates — on average, in one of 88 children, according to a government estimate released last week.

Previous studies have produced a scattering of gene findings but little consensus or confidence in how to proceed.

The new work provides a measure of both, as well as strong backing for earlier studies linking autism to the age of new fathers.

“These studies aren’t so much a breakthrough, because we knew this was coming,” said Jonathan Sebat, a geneticist at the University of California, San Diego, who was not a part of the research teams.

“But I’d say it’s a turning point. We now have a reliable way forward, and I think it’s fair to expect that we will find 20, 30, maybe more such mutations in the next year.”

Other researchers were more cautious, saying that the genetics of rare mutations was not yet well enough understood to make conclusive statements about their effect on the behavior of specific genes.

“This is a great beginning, and I’m impressed with the work, but we don’t know the cause of these rare mutations, or even their levels in the general population,” said Dr. Aravinda Chakravarti, of the Institute of Genetic Medicine at the Johns Hopkins University Medical School, who was not involved in the studies.

“I’m not saying it’s not worth it to follow up these findings, but I am saying it’s going to be a hard slog.”

The three research teams took a similar approach, analyzing genetic material taken from blood samples of families in which parents who have no signs of autism give birth to a child who develops the disorder.

This approach gives scientists the opportunity to spot the initial mutations that accompany the condition, rather than trying to work though possible genetic contributions from maternal and paternal lines.

In all three studies, the researchers focused on rare genetic glitches called de novo mutations.

De novo mutations are not inherited but occur spontaneously near or during conception. Most people have at least one and the overwhelming majority of them are harmless.

Read more here: Scientists Link Rare Gene Mutations to Heightened Risk of Autism - NYTimes.com

SEN Magazine - The emotional consequences of Dyslexia

The most current research into dyslexia tends to focus upon where it exists within the human brain or what form of intervention is most likely to prevent or overcome its effects.

Essentially, such approaches are reifying the concept, giving the impression that Dyslexia is a thing that can be identified or a condition that can be diagnosed and then dealt with.

If we consider Dyslexia from a more humanistic perspective, however, we find ourselves asking a totally different set of questions of the following nature:

• how does it feel to be faced each day with the apparently simple task (in that everyone else can do it) of learning to read without being able to cope?
• do any of the significant adults in one’s life (parents, teachers, partners) seem to understand (a) how it must feel, and (b) how to help?
• if learning to read and spell is considered to be so important in our society, what effect is the inability to do so likely to have on a person’s developing sense of identity?
• is there really an effective “one solution fits all” approach to literacy?
• what are likely to be the long term effects of slipping through the net and not being recognised as suffering from specific learning difficulties of a dyslexic nature?

The comparatively limited research that has been devoted to such questions has tended to produce somewhat equivocal results.

A review of the research results relating to the self-concept of Dyslexic school children (Burden, 2008), for example, reveals that a person’s general self-esteem will not necessarily suffer irrevocably as a result of struggling at school from difficulties of a dyslexic nature, but that early recognition, intervention and emotional support are all significant factors in building resilience.

A closer investigation of this data, alongside more intensive interviews with young people who had been diagnosed as dyslexic, showed that their feelings of being understood played a vitally important role in coming to terms with early literacy difficulties (Burden, 2005).

This did not necessarily require the significant adult to understand the nature, cause or “cure” for the disability, only in the first instance that they demonstrated empathy with the dyslexic child’s feelings.

However, this was only the first stage in a long term process that would be necessary for the development of their ontological security.

As the American psychologist Martin Covington has identified, a growing child's sense of self-worth is highly likely to be closely associated with how well they are coping with school-based academic tasks.

If one is aware of not doing well, this in turn may well lead to what Covington terms “self-worth concern” and efforts to protect one’s sense of wellbeing. “… the student's sense of esteem often becomes equated with ability – to be able is to be valued as a human being but to do poorly in school is evidence of inability, and reason to despair of one’s worth” (Covington, 1992).

Read more of this article here:

Alison Gopnik at TED Edinburgh: What do babies Think?

"Babies and young children are like the R&D division of the human species," says psychologist Alison Gopnik. Her research explores the sophisticated intelligence-gathering and decision-making that babies are really doing when they play.

Alison Gopnik takes us into the fascinating minds of babies and children, and shows us how much we understand before we even realize we do. Full bio »

Malaria treatment: Impact on disease risk for babies

Mothers who receive treatment for malaria infection could pass on lower levels of natural immunity to their babies, a study has suggested.

Edinburgh University experts found mice treated with malaria infection drugs before they became pregnant passed on fewer antibodies to their young.

Full-blown malaria gives the immune system the chance to produce protective antibodies to pass on.

However, it is thought the drug treatment shortens the process.

The mothers benefit while children's immunity is decreased, putting them at greater risk.

The researchers said their results highlighted the need to look at how treatment might be tailored most effectively for women and their babies.

Malaria affects millions of people worldwide, mainly in developing countries. One child dies from the disease in Africa every minute.

Dr Vincent Staszewski, of Edinburgh University's school of biological sciences, said: "How an infection plays out in an individual can impact on the immunity of the next generation.

"Some treatments against disease before or during pregnancy might be beneficial for maternal health but impair infant survival."

The study, published in Proceedings of the Royal Society B, was funded by the Wellcome Trust and the Royal Society.