Scientist find Gene linked to Asperger Syndrome and empathy

Scientists have confirmed that variations in a particular gene play a key role in the autism spectrum condition known as Asperger Syndrome.

They have also found that variations in the same gene are also linked to differences in empathy levels in the general population.

A study to be published later this month in the journal Molecular Autism confirms previous research that people with Asperger Syndrome (AS) are more likely to carry specific variations in a particular gene.

More strikingly, the study supports existing findings that the same gene is also linked to how much empathy typically shown by individuals in the general population.

The research was carried out by a team of researchers led by Professor Baron-Cohen at the Autism Research Centre at Cambridge University.

Asperger Syndrome is an autism spectrum condition. The researchers looked for sequence variations (called single nucleotide polymorphisms, SNPs) in the gene known as GABRB3 in a total of 530 adults - 118 people diagnosed with AS and 412 people without a diagnosis.

The team found that certain SNPs in GABRB3 were significantly more common in people with AS.

They also discovered that additional genetic variations in the same gene were linked to scores on an empathy measure called the Empathy Quotient in the general population.

AS is diagnosed when a person struggles with social relationships and communication, and shows unusually narrow interests and resistance to change, but has good intelligence and language skills.

Most genetic studies of autistic spectrum conditions treat autism as if they are all very similar, whereas in reality there is considerable variation (e.g., in language level and intellectual ability).

Rather than studying people on the autistic condition spectrum, this new study looked only people with AS, as a well-defined subgroup of individuals within this range.

The researchers examined the gene GABRB3 which regulates the functioning of a neurotransmitter called gamma-aminobutyric acid (GABA) and which contains a number of SNPs that vary across the population.

The volunteers were tested for 45 SNPs within this key gene. The team had previously found that SNPs in this gene were more common in adults with AS and also showed a relationship with empathy levels and tactile sensitivity (how sensitive people are to being touched) in the general population.

Testing a new sample of volunteers who had not taken part in previous studies, the researchers found that three of the SNPs were again more common in adults with AS, and two different SNPs in the same gene were again related to empathy levels in the general population, confirming that the gene is involved in autism spectrum conditions.

Professor Baron-Cohen said: "We are excited that this study confirms that variation in GABRB3 is linked not just to AS but to individual differences in empathy in the population.

Many candidate genes do not replicate across studies and across different samples, but this genetic finding seems to be a solid result.

Research now needs to focus on where this gene is expressed in the brain in autism, and how it interacts with other genetic and non-genetic factors that cause AS."

The team was co-led by Dr Bhismadev Chakrabarti from the Department of Psychology at Reading University. He commented: "Genes play an important role in autism and Asperger Syndrome."

"This new study adds to evidence that GABRB3 is a key gene underlying these conditions."

"This gene is involved in the functioning of a neurotransmitter that regulates excitation and inhibition of nerve cell activity so the research gives us vital additional information about how the brain may develop differently in people with Asperger Syndrome."

Varun Warrier, who carried out the study as part of his graduate research at Cambridge University, added: "The most important aspect of this research is that it points to common genetic variants in GABRB3 being involved in both AS and in empathy as a dimensional trait."

"Although GABRB3 is not the only gene to be involved in this condition and in empathy levels, we are confident that we have identified one of the key players."

"We are following this up by testing how much protein GABRB3 produces in the brain in autism, since a genetic finding of this kind becomes more explanatory when we can also measure its function."

More information: "Genetic variation in GABRB3 is associated with Asperger syndrome and multiple endophenotypes relevant to autism." Varun Warrier, Simon Baron-Cohen and Bhismadev Chakrabarti. Molecular Autism 2013, 4:48 DOI: 10.1186/2040-2392-4-48

Dyslexia: Empowering Learning - Olive Hickmott

Call for fresh approach to develop accelerated learning skills in school

December 2013 News from Olive Hickmott of Empowering Learning

– Neuroscience research shows that effective mental imagery skills are missing for those with poor literacy, numeracy, concentration and also many with Specific Learning Difficulties (SpLD), such as Dyslexia.

Olive Hickmott, expert learning coach and founder of Empowering Learning, has observed and studied the learning strategies employed by skilled and confident learners.

Observing best practice amongst skills and confident learners, it is clear that the ability to generate mental images and control their location, motion, size, brightness, etc are essential skills.

She has developed a teaching model which both enhances and controls mental imagery and has taught 100s of Practitioners worldwide.

100% of those who are diagnosed with Dyslexia are not using mental imagery for words or numbers and many can’t keep even a single letter still.

The skills to control mental images can be taught quickly and used immediately to accelerate progress. 

Mental imagery offers a fresh, enjoyable and simple skill for teachers, parents and children with SpLD.

In England there is an increase in the pupil premium available in 2013/14, with the amount per child in primary school, rising from £900 to £1300.

Hickmott is calling for this increase to be used most effectively to ensure children are not just supported in their confusion, but are taught new skills that will last a lifetime.

As we digest the OECD’s test results, literacy and numeracy levels in the English speaking countries still have much room for improvement.

As English has many irregularities and homophones to confuse our children, using mental imagery effectively accelerates learning and helps children to develop the necessary skills to overcome many of their challenges.

Teaching these skills within schools and to families has created exceptional results. Several symptoms of SpLDs can be reduced or even eliminated.

Hickmott quotes that, “The National Curriculum calls for multi-sensory teaching and learning”.

She comments, “Being in control of your mental imagery is the fundamental basis for visual learning. Teachers however are not being taught how to help a child hone their mental imagery skills for literacy, numeracy and concentration."

"Teachers can add the skills, as Continuous Professional Development (CPD), in just a few hours on-line or through INSET training."

"This will enhance their teaching and provide a very sustainable and cost effective way of addressing the challenges of conditions such as Dyslexia."

"This is particularly vital amongst children aged 4-7 years as a preventative measure and also to ensure that they do not lose confidence and self-esteem”.

Hickmott observes, “This is not just another spelling or reading strategy, it enables teachers and families to understand more about how we learn."

"Mental imagery has been used in sport for many years to model excellence and every day we see dramatic results in working with children, particularly those with Dyslexia."

"Following the latest figures from OECD, the strategy to teach the skill that experts already use, must be considered."

"Developing the use of mental imagery as a technique in schools offers an effective starting point for all aspects of literacy teaching. If you know something works why wouldn’t you try it? ”

Not only do the children benefit, the family benefits as a whole and Hickmott actively encourages parents to get involved.

One such family is that of Jane Smith. Jane’s partner and nine-year old daughter both showed signs of Dyslexia and as a result sought help from Hickmott. Jane comments,

“When I sent my partner and daughter to see Olive, I expected them to come home with some new skills to help them improve their reading and spelling. I was not prepared to be totally amazed at the results!”

She continues, “The stress levels in the house have gone right down, confidence has grown, there is more co-operation and some very happy people.”

Hickmott concludes, “We have a great opportunity to make a real difference in teaching children with poor literacy, Dyslexia and other SpLDs."

"The bonus of using this approach is that it will accelerate any techniques that are already in place. The increased pupil premium offers a real opportunity to address Dyslexia and other learning difficulties."

"Let’s not waste this opportunity and instead take up this challenge to enable our children to learn in a way that best suits them.”

www.empoweringlearning.co.uk , www.cpdoutofthebox.co.uk and the blog at www.olivehickmott.co.uk

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Empathy versus Sympathy - RSA Animation

What is the best way to ease someone's pain and suffering? 

In this beautifully animated RSA Short, Dr Brené Brown reminds us that we can only create a genuine empathic connection if we are brave enough to really get in touch with our own fragilities.

Dr Brené Brown is a research professor and best-selling author of "Daring Greatly: How the Courage to be Vulnerable Transforms the Way We Live, Love, Parent and Lead" (Penguin Portfolio, 2013).

She has spent the past decade studying vulnerability, courage, worthiness, and shame.

Voice: Dr Brené Brown
Animation: Katy Davis (AKA Gobblynne) 
www.gobblynne.com

Cutting-Edge Tech Gives A Synthetic Voice To The Voiceless

Influencers and Innovation: VocaliD
A tech breakthrough is letting people who are physically unable to speak talk out loud in their own, unique voice.

When a person can't use audible speech to communicate, technology already exists that can allow some people to talk using a computerized voice.

Generally people need to use apps or computer programs where you type in what you want to say and the phone or tablet speaks it aloud.

Until now, every person who utilized the technology has had the same voice -- which sounds deep and computerized. But thanks to VocaliD, that's changing.

"You see a 3-year-old girl using that voice, and then you see a 40-year-old male using that voice, and it's odd. It can't really be an extension of the individual if someone else has that same voice," Rupal Patel, associate professor at Northeastern University and the developer behind VocaliD told reporters.

"That was when we first started thinking: 'Isn't there a way to make these voices more personalized?"

Patel uses technology to blend a person's unique speech with a healthy speaker's voice to create a sound that is "understandable but unique to the person that we want to build it for."

For Samantha Grimaldo, the teenager with whom Patel is working to develop the speech program, the information in her brain doesn't flow to the muscles used for speech.

"I don't use my voice to talk, but I use my iPhone," Grimaldo said. Grimaldo called the default voice she's been using "weird."

"Because of the way it sounds, she doesn't want to use the phone as much, especially in public," Grimaldo's mother, Ruane, said.

To create a special voice for Grimaldo, Patel took recordings of Grimaldo saying different vowels and blended them with another speaker's voice.

Grimaldo's mother said she was thrilled with the result, and that she could hear some of Samantha's voice in it.

"We're just so grateful that this could happen for her," Ruane said. "She's going to have a full life because of people like Rupal, who really want to help."

"There's nothing better than seeing the person who's actually going to use it, seeing their reaction, seeing their smile," Patel said.

Childhood Ashtma: Cat and Dog Allergens on your pets' soft toys

Children's soft toys can harbour high levels of cat and dog allergens as well as house dust mite allergens, according to new research by the University of Otago, Wellington.

After house dust mite allergens, exposure to cat and dog allergens is the next most common indoors. All are strongly associated with asthma.

Children often sleep with soft toys close to their airways, so any allergens present can be a potential problem for asthmatics, says Associate Professor Rob Siebers.

"What that means is that exposure to allergens on toys tends to be great than exposure to mattresses," Professor Siebers says.

The study analysed dust collected from 40 children's soft toys and mattresses. Most had detectable cat and dog allergen levels even in homes without cats or dogs.

Thirty-five of the 40 soft toys (87.5%) had detectable cat allergen levels, and 34 (85%) had detectable dog allergen levels. By comparison, 80% of mattresses had detectable levels of the allergens.

Furthermore, while all mattresses and soft toys had detectable house dust might allergen levels, soft toys contained about three times the level of those on mattresses.

Rob Siebers

While soft toys have long been recognised as a source of house dust mite allergens, this is the first major study of its kind to confirm they are also a source of cat and dog allergens, regardless of whether the home has pets, Professor Siebers says.

"Cat and dog allergens are aerodynamic and can be transported on clothing into animal-free areas, even in cat-free areas such as the Antarctic."

Professor Siebers says the good news is that a regular cold wash in the washing machine has been proven to get rid of cat and dog allergens.

"My advice to parents, particularly of children who are sensitised asthmatics, is to put the toy their child sleeps with through the wash at least weekly."

The research has just been published in the online Journal of Asthma, and was carried out in association with colleagues at the Show Chwan Memorial and Changhua Christian hospitals in Taiwan.

UK Police Taser teenage boy with complex learning difficulties

A teenage boy with complex learning difficulties has been Tasered by police in the grounds of a special school owned by the exclusive Priory Group.

Devon and Cornwall Police were called to Chelfham Senior School near Plymouth, which specialises in children with learning difficulties including behavioural, emotional and social difficulties and autism, after reports of an alleged assault on a teacher.

The force confirmed officers deployed a Taser during the incident at 9.20pm on December 1, which involved three boys, a 15-year-old and two 14-year-olds, after reports that knives were brandished at officers.

The day and residential school for boys and girls aged seven to 19 is owned by the Priory Group, a private company known for its addiction clinics favoured by celebrities.

It is in the village of Bere Alston in the Devon countryside, close to Dartmoor National Park.

Sophie Khan, a solicitor-advocate and legal director at Police Action Centre, said: "The use of a Taser on this occasion has to be called into question. The police action may have been excessive."

"The use on children is only allowed if it is the only feasible method of restraining the child. It's only there if there are no other alternatives to restrain the child," she said.

"Often officers can say they weren't aware of behaviour issues, but in this case they must have been aware."

"Using a Taser on someone suffering some kind of behavioural difficulty or disability is something the policy or guidance doesn't allow."

Devon and Cornwall Police are being investigated by the police watchdog over an incident in which a man who doused himself in petrol burst into flames when he was shot with a Taser. Andrew Pimlott, 32, suffered horrific injuries in the confrontation outside his house and died in a hospital burns unit five days later.

However, the Independent Police Complaints Commission (IPCC) has not been contacted in relation to the incident at Chelfham.

The teacher was treated at the scene by paramedics for chest and head injuries before being taken to Derriford Hospital.

All three boys involved in the incident were jointly charged with affray and will appear at Plymouth Magistrates' Court on December 20.

A spokeswoman for the school said it was "an isolated incident on the school grounds and as legal proceedings are ongoing it would be inappropriate to comment further".

Figures released to UK Parliament earlier this year showed armed officers discharged, targeted or threatened to use Tasers against youngsters more than 320 times in 2011 - an 11-fold increase from the first year they were cleared for use against under-18s in 2007.

In the first year of officers being cleared to Taser children, they were used 29 times in England. By 2009, this had increased to 135.

In 2010, the weapons were used 339 times against children and by 2011 - the latest year that figures are available - the total stood at 323.

The figures were released following a parliamentary question asked by Lib Dem backbencher Julian Huppert.

In 2004, following a trial in five forces, it was agreed to allow chief officers of all police forces in England and Wales to make Tasers available to authorised firearms officers.

Breaking the link between ADHD and addiction

Dr Melanie White

Adult sufferers of ADHD are two to three times more likely to experience substance abuse or dependence, but a research project which will map the genetic markers of the condition will help sever ties with addiction and could lead to customised treatments.

Dr Melanie White from QUT's Institute of Health and Biomedical Innovation (IHBI) said testing for specific genes associated with actions of the reward centre of the brain involving dopamine - a neurotransmitter which plays a major role in reward-motivated behaviour - would give a better understanding of how the brain works in those with ADHD (Attention Deficit Hyperactivity Disorder).

"I'm looking at genetic markers of symptoms of ADHD in adulthood as well as whether people have used a range of different types of substances, and the interaction between these genetic markers and aspects of the environment," Dr White said.

"Given ADHD medication is typically a stimulant, I'll be investigating whether it improves their symptoms in the short term and the role of this medication in future substance use or symptoms."

Dr White, who was awarded a Churchill Fellowship to progress her research, said most children diagnosed with the neurodevelopmental disorder carried it into adulthood.

While symptoms, which include restlessness in work and relationships and impulsivity, can be adapted to fit in with the demands of life, the link between ADHD and substance abuse is impossible to ignore.

"One theory is that people are using substances to redress the chemical imbalance in their brain, or that the reward centre and dopamine activity is wired differently in those with ADHD versus the rest of the population," Dr White said.

"However, the theory I'll be investigating is whether early stimulant medication use when the brain is still developing, results in the brain responding differently when exposed to substance use later in life.

"There are diagnostic differences in terms of whether your symptoms are predominantly inattentive or hyperactive-impulsive, but I have no doubt there are several different genes that might lead to susceptibility to substance abuse on top of the risk for these ADHD symptoms."

Dr White carried out research at the Federal University of Rio Grande do Sul in Brazil, which has studied the largest group of adults with ADHD in the world.

However, she is looking for expressions of interest from Australian adults with ADHD for future studies.

"Hopefully in the future, this type of information will enable us to make customised plans based on people's specific genetic profile amongst other characteristics, often called 'personalised medicine'," she said.

"We hope to be able to effectively say 'this medication would be more effective for you because of your genetic makeup', or conversely 'we don't believe this medication would be a good idea because it may increase some risks for you down the track'."

FASD: Alcohol during pregnancy causes impaired social skills in children

A recent study published in Child Neuropsychology has found that drinking alcohol while pregnant means your child is more likely to develop issues with social skills as they grow older.

The results of the study indicate that children with prenatal alcohol exposure (PAE) who do not have a global intellectual disability are at high risk of developing significant problems in a broad array of cognitive, emotional, behavioral, and social domains.

125 children aged between 6 and 12 participated in the study, 97 of whom met diagnostic criteria for a Fetal Alcohol Spectrum Disorder (FASD).

The children underwent a comprehensive multi-informant assessment of neurocognitive, emotional, social, behavioural, and adaptive functioning.

The results of the study indicated that the children who had prenatal alcohol exposure (PAE), returned significantly poorer scores compared to the non-exposed group on tests measuring executive functioning (the processes that help us connect past experience with present action, the skills we use for organization and planning), attention, working /visuospatial memory, linguistic abstraction, adaptive behaviour, emotional/behavioural functioning, and social cognition (understanding of why people do the things that they do).

The study showed that while the children with PAE and the non-exposed children attributed hostile intentions towards provocative behaviors by their peers, e.g. pushing and shoving, the children affected by PAE were more likely to attribute hostile intentions to situations that did not involve physical provocation e.g. asking if they can play and being told 'no'.

The parents of children with PAE also gave greater reports of inattentive and hyperactive/impulsive behavior and the children were shown to also be more likely to show depressive symptoms.

The group of children with PAE were also shown to have more social problems according to assessments involving parents and teachers. These results maintained their significance past controlling for IQ, demonstrating that relying on IQ alone to guide parental, peer, and school expectations may be misleading.

The study also notes that this may also suggest that the negative effects of PAE are above and beyond the control of intelligence.

The study concludes by suggesting that the results mean it is becoming increasingly more evident that there is a pressing need for early identification of social issues related to prenatal alcohol exposure and intervention in order to take advantage of the developing brain's plasticity and to maximise the likelihood of effecting meaningful functional improvement.

More information: Justin L. Quattlebaum & Mary J. O'Connora "Higher functioning children with prenatal alcohol exposure: Is there a specific neurocognitive profile?" Child Neuropsychology: A Journal on Normal and Abnormal Development in Childhood and Adolescence Volume 19, Issue 6, 2013 DOI: 10.1080/09297049.2012.713466

Micromovements hold hidden information about severity of autism

Movements so minute they cannot be detected by the human eye are being analyzed by researchers to diagnose autism spectrum disorder and determine its severity in children and young adults, according to research presented at the 2013 Society for Neuroscience annual meeting in November.

Jorge V. José

The research is the work of Jorge V. José, Ph.D., vice president of research at Indiana University, and Elizabeth Torres, Ph.D., the principal investigator for the study and an assistant professor in the Department of Psychology in the School of Arts and Sciences at Rutgers University.

They are building on earlier findings involving the random nature of movements of people with autism.

Earlier research looked at the speed maximum and randomness of movement during a computer exercise that involved tracking the motions of youths with autism when touching an image on the screen to indicate a decision. That research was reported in July in the Nature journal Frontiers of Neuroscience.

Elizabeth Torres

In the new study, the researchers looked at the entire movement involved in raising and extending a hand to touch a computer screen.

The device they use can record 240 frames per second, which allows them to measure speed changes in the millisecond range.

"We looked at the curve going up and the curve going down and studied the micromovements," said Dr. José, who also is the James H. Rudy Distinguished Professor of Physics in the IU Bloomington College of Arts and Sciences and a professor of cellular and integrative physiology at the IU School of Medicine.

"When a person reaches for an object, the speed trajectory is not one smooth curve; it has some irregular random movements we call 'jitter,'" he said.

"We looked at the properties of those very small fluctuations and identified patterns." Those patterns or signatures also identify the degree of the severity of the person's autism spectrum disorder, he said.

"Often in movement research, such fluctuations are considered a nuisance," Dr. José said.

"People averaged them away over repeated movements, but we decided instead to analyze the movements on a smaller time scale and found they hold lots of information to help diagnose the continuum of autism spectrum disorder.

"Looking at the speed versus time curves of the motion in much more detail, we noticed that in general many smaller oscillations or fluctuations occur even when the hand is resting in the lap."

"We decided to carefully study that jitter. Our remarkable finding is that the fluctuations in this jitter are not just random fluctuations, but they do correspond to unique characteristics of the degree of autism each child has."

Wu said the more detailed information allows subtyping autism spectrum disorder, Asperger's and identify typically developing individuals much better than what had been done before in terms of the global distribution of movements.

The next step is to compare the output of the new methodology in individuals with autism of idiopathic origins with those with autism of known etiology.

The new refinement may help advance research in autism spectrum disorder to develop treatments tailored to the individual's needs and capabilities. A collaborative effort with the Torres lab at Rutgers is underway.

More Information: Autism: the micro-movement perspective July 2013