Researchers from Georgia Institute of Technology are developing a computerized early warning system that can be used to diagnose children with autism.

Georgia Tech is part of a consortium of universities that was granted a $10 million “Expeditions in Computing” award from the National Science Foundation (NSF) to develop digital tools for measuring and analyzing behavior that can be distributed widely. These technologies will be used to enable new approaches for identifying children at risk for autism and other developmental delays that may potentially improve the delivery and evaluation of treatment.

The award, one of only 10 given out by the NSF since 2008, provides up to $2 million in funding each year for five years and is designed to push boundaries in computer science by deploying behavioral science, which draws equally from computer science and psychology to transform the study of human behavior.

Autism affects one of every 110 children in the US, and the long-term outcomes for a child who is at risk for the condition can be significantly improved with early treatment. As a result, it is widely accepted that all children should be screened for developmental delays as early in life as possible.

"Direct observation of a child by highly trained specialists is an important step in assessing risk for developmental disorders, but such an approach cannot be easily scaled to the large number of individuals needing evaluation and treatment," said the project’s lead principal investigator James Rehg, in a press report (http://www.gatech.edu/newsroom/release.html?nid=60509).

For this project, the researchers will design vision, speech and wearable sensor technologies to analyze child behavior. Data will be collected from interactions between caregivers and children, children playing and socializing in a daycare environment, and clinicians interacting with children during individual therapy sessions. Multiple sensing technologies are necessary to obtain a comprehensive and integrated portrait of expressed behavior.

"People use eye gaze, hand gestures, facial expressions, and tone of voice to convey engagement and regulate social interactions," said co-principal investigator Gregory Abowd, a professor in the School of Interactive Computing at Georgia Tech. "In addition, physiological responses, such as increased heart rate, can impact the expression of these behaviors."

Cameras and microphones will provide an inexpensive and noninvasive way to measure eye gaze and facial and body expressions, along with speech and non-speech utterances. Wearable sensors will measure physiological variables such as heart rate and skin conductivity, which contain important clues about levels of internal stress and arousal that are linked to behavior.

The research team will also develop capabilities for synchronizing the signals from the microphones, cameras and on-body sensors. By developing and using models of social interactions, the researchers will analyze the sensor data to quantify engagement.

As part of this award, the researchers will use a behavioral screening instrument called Rapid-ABC, which is currently under development. The researchers intend to utilize the information gathered from the microphones, cameras and on-body sensors to automate some of the scoring for the Rapid-ABC test.
"We hope that by incorporating this screening protocol into well-child doctor visits for children less than two years old, we can reduce the average age of autism diagnosis, which is currently about four years old," said Arriaga.

A new technique developed at King’s College London uses a fifteen minute MRI scan to diagnose autism spectrum disorder (ASD). The scan is used to analyze the structure of grey matter in the brain, and tests have shown that it can identify individuals already diagnosed with autism with 90% accuracy. The research could change the way that autism is diagnosed – including screening children for the disorder at a young age.

Currently, ASD is diagnosed behaviorally. There is a list of potential symptoms for autism in the DSM, and anyone exhibiting a certain number of these symptoms can be diagnosed. It’s up to parents or family members to recognize signs of ASD, and to have the child observed by a doctor – only then are they diagnosed. If MRI scans can be shown to rapidly and reliably identify the disorder, it will radically change our diagnostic criteria from behavioral to anatomical.

Researchers at the Institute of Psychiatry (IoP) used MRI scans to evaluate the structure, thickness, and shape of the cerebral cortex (i.e. the outer layer) in subjects’ brains. The study looked at three different groups of males: 20 subjects were healthy controls, 20 had prior diagnoses of ASD, and 19 were diagnosed with ADHD. Each group underwent traditional diagnostic methods first: they were given an IQ test, a psychiatric interview, a physical exam and a blood test. Then the subjects were scanned to see if there were biological correlates to their diagnoses.

The researchers found that ASD patients had special cortical features that allowed their brains to be distinguished from the other two groups. By contrast, ADHD brains could not be distinguished from their healthy counterparts. Because of the small sample size, researchers were unable to distinguish between distinct diagnoses along the autism spectrum (e.g autism vs. Asperger’s). Future research will be needed to determine whether the new technique can tease out diagnostic subcategories of the disorder – and whether the same technique can find these differences in childrens’ brains.

Check out the BBC report:

The disorders of the autism spectrum are poorly understood, to say the least. ASD is largely determined genetically, but the actual mechanisms of its etiology are unclear; it affects the organization of the brain, but in ways we don’t really understand. A 2006 study at Drexel University estimated that a staggering 1 in 170 children have some form of ASD; that figure is more than ten times the estimate given in the 1980’s. Are we diagnosing the disorder more consistently, or is it really on the rise? Again, we don’t know.

The research is certainly groundbreaking – for the first time, a biomarker has been associated with autism, which has always been diagnosed behaviorally.  Still, the work is in its preliminary stages, and won’t be replacing behavioral diagnosis anytime soon (though it will undoubtedly disrupt the DSM-5 revisions of autism’s definition).  The test doesn’t give binary “yes or no” results; instead, it plots an individual’s cortical structure in its relative distance from an average non-autistic brain. As Neuroskeptic notes in an excellent summary of the study’s methodology, it might not help diagnosis in borderline cases. As with behavioral symptoms, the anatomical results come in shades of grey – and that still means drawing a diagnostic line somewhere.

The 90% statistic is also misleading, as it indicates the sensitivity of the test rather than the positive predictive value. If we’re asking, “If I have autism, will the brain scan find it?,” the answer is an encouraging 90% “yes.”  But if we change the question to “If the scan says I have autism, do I have the ASD?,” that number plummets to something like 5%.  In a sobering critique of the study’s hype, Carl Heneghan writes in the Guardian:

Let’s think of 10,000 children. Of these 100 (1%) will have autism, 90 of these 100 would have a positive test, 10 are missed as they have a negative test: there’s the 90% reported accuracy by the media.

But what about the 9,900 who don’t have the disease? 7,920 of these will test negative (the specificity in the Ecker paper is 80%). But, the real worry though, is the numbers without the disease who test positive. This will be substantial: 1,980 of the 9,900 without the disease. This is what happens at very low prevalences, the numbers falsely misdiagnosed rockets. Alarmingly, of the 2,070 with a positive test, only 90 will have the disease, which is roughly 4.5%.

This would seem to limit the research’s application to improving diagnosis of suspected individuals, rather than screening the population at large. Still, the research is exciting, even without the hype: it represents the first time that a neuroanatomical difference has been identified in ASD, and that’s an exciting step towards better understanding a baffling disorder. More work lies ahead: the study needs to be replicated in women, and it remains to be seen whether cortical differences can be distinguished in young (i.e. developing) brains.

The statistical issues raise some ethical questions about replacing the behavioral diagnosis with a brain scan. What if you were diagnosed with autism based entirely on the structure of your cortex, never having exhibited any of its behavioral symptoms? Even the study’s authors recognize the complexities involved, e.g. research supervisor Dr. Declan Murphey: “Clearly the ethical implications of scanning people who may not suspect they have autism needs to be handled carefully and sensitively as this technique becomes part of clinical practice.”  If you have the brain features, but not the behavioral ones, do you have autism?

These questions will problematize the upcoming DSM-5 and its proposed revisions to ASD’s definition. Upcoming studies will undoubtedly put these results to the test, and it remains to be seen what their diagnostic utility will be. But an anatomical element to ASD is exciting news indeed, and should breed a wave of new research into the implications of an identifiable autistic cortex. Hopefully that will pave the way to new treatments for a disorder affecting so many, and one so poorly understood.

A simple 15-minute brain scan could help doctors diagnose people with autism by identifying structural differences in their brains. Scientists say the scans would speed up what is currently a long and emotional diagnostic procedure and allow the identification of at-risk children more rapidly.

"We know already that people with autism have differences in brain anatomy and some regions are just bigger and smaller or just different in shape," said Christine Ecker of King's College Institute of Psychiatry in London. "Our technique can use this information to identify someone with autism."

Autistic spectrum disorder (ASD) is a lifelong condition caused by abnormalities in the development of the brain that affects around half a million people in the UK. The vast majority of these are male, and diagnosis usually involves a lengthy process of interviews and personal accounts from family and friends close to the patient.

Medical researchers at the IoP compared the brain scans of 20 adults with autism against those of 20 adults without. They found significant differences in the thickness of tissue in parts of the grey matter in areas of the frontal and parietal lobes which are responsible for functions including behaviour and language.

In the experiment, Ecker showed that her imaging technique was able to detect which people in her group had autism, with 90% accuracy. "If we get a new case, we will also hopefully be 90% accurate," she said. The research, supported by the Medical Research Council, Wellcome Trust and National Institute for Health Research, is published today in the Journal of Neuroscience.

Declan Murphy, professor of psychiatry and brain maturation at the IoP said the new method would help people with ASD to be diagnosed more quickly and cost effectively. "Most importantly, their diagnosis will be based on an objective "biomarker" and not simply on the opinion of a clinician, which is formed after an interview. Simply being diagnosed means patients can take the next steps to get help and improve their quality of life."

Uta Frith, emeritus professor of cognitive development at University College London's Institute of Cognitive Neuroscience, said: "This study shows that the subtle brain abnormalities associated with autism show a distinctive pattern. However, it will need many more studies before the technique used in this study can be used for diagnosis. It is crucial that we learn more about what the brain abnormalities mean. The authors in the paper itself say their results are preliminary and serve as 'proof of concept' rather than a definitive means of diagnosis."

Ecker found there was a correlation between the severity of a person's autism and the amount of structural difference observed in their brain scans, compared with the control group. "We can see that, on the basis of the brain scan, some brains are simply located quite far away from the 'control' brain, whereas some are more like the controls, so the autism wouldn't be that severe."

The IoP team scanned the brains of 20 healthy men and 20 men with ASD, aged between 20 and 68 years. The men with ASD had already been diagnosed by traditional methods, which includes IQ tests, a psychiatric interview, physical examinations and a blood test. Once all the brains had been imaged using a standard clinical MRI scanner, the pictures were analysed for differences using a technique called pattern classification, which is widely used in facial recognition technology but has not, until now, been used on brain scans.

So far, Ecker's team has only looked at men but there are plans to extend the work to women and children. "We think this approach will work even better with kids because the brain abnormalities you see in autism develop over the life span and they're most prominent during childhood," she said. "If we can get up to 90% accuracy in adults, we think it'll be even better in kids."

Carol Povey, director of the National Autistic Society's Centre for Autism, said the study gave a valuable insight into the way people with autism process and understand the world around them. "Eventually, the researchers hope that brain scans might also be a useful diagnostic tool. While further testing is still required, any tools which could help identify autism at an earlier stage, have the potential to improve a person's quality of life by allowing the right support to be put in place as soon as possible."

She added: "However, diagnosis is only the first step. At the National Autistic Society, we frequently receive calls from people who have struggled to get support, leaving them anxious, frustrated and in some cases depressed or even suicidal. Research that improves our understanding of autism, is therefore part of a wider struggle to enable people with autism to access appropriate support at every stage of their life."

A Toronto-led consortium of international researchers has described the clearest picture yet of how genetics influences autism, the developmental disorder that affects an estimated one in 110 children.

The findings reveal the majority of families with individuals diagnosed with autism have their own unique form of the disorder, that the particular changes in their DNA are not shared by other affected families.

Scientists involved in the project say it has led to a paradigm shift in how they understand autism spectrum disorder.

It had been thought common genetic changes in only a few genes triggered autism.

But now, they say, the genetic alterations that lead to autism are rare, shared by few individuals with the disorder.

The scientists also identified new biochemical and brain development pathways affected in autism, which give drug makers new targets for creating therapies.

Almost immediately, the research will help to diagnose individuals with an autism spectrum disorder earlier in life — perhaps in the first 12 or 18 months, before behavioural symptoms arise.

And knowing each family affected by autism is unique suggests one day doctors will be able to prescribe individualized treatment and therapy for their patients with an autism spectrum disorder.

“We’re really starting to see the forest through the trees,” said Stephen Scherer, the study’s senior corresponding author, a senior scientist at the Hospital for Sick Children and director of the hospital’s Centre for Applied Genomics.

“As we start to parse out these different forms of autism, we can use the information in a more personalized way for each family to give them the best tools for the decisions they need to make.”

The study, the largest of its kind and involving more than 120 scientists from across North America and Europe, was published online Wednesday in the journal Nature.

The Autism Genome Project Consortium is a global effort to find the genetic roots of autism. Autism spectrum disorder can cause a range of symptoms in children, including repetitive behaviours and impaired language development and social interaction. The disorder affects four times as many boys as girls.

To home in on the genetic underpinnings of autism, the scientists collected DNA samples from 1,500 families. Using microarray technology, they scanned the entire genome of close to 1,000 individuals with autism and about 1,200 people without the diagnosis, looking for copy number variants.

Copy number variants, or CNVs, are long stretches of genetic material that either have missing or extra DNA.

The study found people with an autism spectrum disorder carry a greater number of CNVs than healthy individuals. Those CNVs can either be inherited from parents or arise spontaneously during development.

The study — the second phase of the consortium’s work — pinpointed about 100 genes related to autism. Scherer said these account for about 10 to 15 per cent of cases of autism.

The research also found an overlap between the newly identified autism susceptibility genes and genes known to be associated with intellectual disability.

“No one had tested that before because they didn’t have the data,” said Scherer.

Dr. Peter Szatmari, who shared the leading role with Scherer and is director of the Offord Centre for Child Studies in Hamilton, said the research will help families affected by autism.

“Giving families an understanding is really, really important,” Szatmari said. “After you tell them the child has a diagnosis of ASD, the next thing they want to know is what caused it. Ten years ago, all we could say is that it was genetic. But we couldn’t point to any genes or any mechanisms with any clarity, so that left a lot of families unsatisfied.

“Now we can say we know a number of the genes, there are lot of them — way more than we thought — but they appear to have this common function and we know what that is now and we’re working toward real advances.”

Geraldine Dawson, chief science officer of the U.S. branch of Autism Speaks, that country’s largest autism science and advocacy organization, said the most immediate clinical application of the findings will be in earlier diagnosis.

“By screening for rare mutations in children at risk for autism, such as infant siblings of children with autism, we may be able to identify those infants who have a higher likelihood of developing the condition,” said Dawson, who is also a professor in the department of psychiatry at the University of North Carolina Chapel Hill. “The strategy would be to monitor these infants’ development more closely and begin intervention as soon as symptoms are apparent.”

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An international group of researchers reports the discovery of a set of rare genetic variations that may increase susceptibility to autism spectrum disorders. The new study, which came out of the Autism Genome Project Consortium, the largest database of genetic information from families with autism, was published Wednesday in the journal Nature.

Autism researchers welcomed the new paper as valuable progress in understanding some of the causes of a largely inscrutable disorder. "I think this paper is important because it's one in series of ongoing large studies that continue to really chip away very nicely at the mystery of autism," says Dr. Daniel Geschwind, director of the Center for Autism Research and Treatment at the University of California, Los Angeles. (See TIME's photo-essay "A Journey into the World of Autism.")

Since the launch of the international consortium, a collaboration of more than 120 scientists and 50 institutions, at least two dozen or so genes have been identified and associated with autism spectrum disorders (ASDs). Past studies of twins and families have shown that susceptibility to ASDs is primarily genetic, and researchers estimate that 5% to 15% of autism cases can be traced back to specific, known genes. But the complex genetics of the other 85% cases of ASD have been difficult to untangle. Genes may play a role in these children's vulnerability to autism, but many other factors, such as parental age and other unknown environmental influences, may impact whether they actually develop autism's hallmark deficits in social, cognitive and communication skills.

In the new study, researchers have taken a step toward quantifying the influence of certain genetic patterns. After conducting detailed genetic analyses and comparing the genomes of 996 people affected with autism and 1,287 matched controls, they found that those with ASDs were 20% more likely to have so-called copy number variations — abnormalities in the number of copies — of specific genes. These changes affect about 1% of people in the general population. (See how autism numbers are rising.)

Copy number variations (CNVs) may include either missing copies or additional copies of genes; most genes have exactly two copies, one inherited from the mother and the other from the father. CNVs may also be inherited, but they may pop up spontaneously — in fact, some of the autism-related changes discovered in the current study were found in children but not their parents. (Comment on this story)

If such variations occur in important genes, such as those involved in development, they could have deleterious effects. These are precisely the CNVs that the consortium scientists have associated with ASDs: most of the genes showing CNVs in autism patients were linked with intellectual ability — and had been previously associated with autism. In the current study, these genes carried a 70% greater likelihood of harboring such copy variations than other autism-related genes. (See six tips for traveling with an autistic child.)

By conducting a deeper investigation into the genes that showed the CNVs, the consortium also stumbled upon four new genes associated with autism. The new genes, in addition to the nearly two dozen genetic defects already linked to ASDs, will guide researchers toward new targets for treatment, the authors hope. "Prior to 2007, we knew nothing about autism. We knew there was some genetic involvement but we had no details," says senior author Stephen Scherer, a senior scientist at Hospital for Sick Children at University of Toronto. "This study and others that are coming are really starting to crack open the black box and give us a better understanding of what is going on in autism."

What has particularly energized the research community is that all of the genes linked to autism so far, including those discovered in the Nature paper, appear to affect similar biochemical pathways in the brain — pathways involved in intellectual development or cell signaling and communication. In the current paper, the consortium scientists overlayed the map of the various genes affected by CNVs on that of previously identified autism genes involved in intellectual development, and saw a gratifying convergence between the two sets.

Such common ground, says Scherer, may offer shared targets for new drugs, so that even people whose autism has slightly different genetic or environmental causes may benefit from the same therapies. If the biology of the disorder converges on similar pathways in the body, a single treatment or therapy targeted at these pathways could hopefully treat a good proportion of cases. (See pictures of a school for autistic children.)

"We have no good therapeutics for autism and the reason is because we didn't know the pathways involved before, so we couldn't rationally design therapeutics," says Scherer. "Now we have...more targets identified. Some were known before, and some are entirely new, but they all link to known genes in the pathway."

That knowledge comes at a critical time, especially since experts are discovering that autism is a progressive disease, which in many cases can worsen if left untreated. Recent studies suggest that early intervention in infants — even before age 1 — who are suspected of having ASDs could reverse or dampen some of the disorder's more severe symptoms. "Families want to understand what caused their child's autism," says Geraldine Dawson, chief science officer for Autism Speaks and a psychiatrist at University North Carolina Chapel Hill. "They want to have good information about what that means for family planning, for their next child if they are planning one. They also want to be able to detect autism as early as possible because we know that if we provide early intervention in the first years of life, this can have a huge impact on the outcome of the disorder."(See the latest in women and health.)

Ultimately, Dawson says, genetic testing for the CNVs identified by the consortium may become an important part of diagnostic and treatment decisions. But she notes that as with all genetic testing, the results must be presented in the proper context and with adequate counseling, so parents understand the true risks of autism-related genes. Even genes that are highly associated with autism don't always lead to the disorder; in most cases, these genes confer a vulnerability to autism — but not a certain diagnosis.

Dawson expects that the next step toward standardizing a CNV-based test is to screen for the CNVs in autism patients, and gather data on how effective the genetic markers are in diagnosing ASDs — and, in the future, how useful they may be in predicting new cases. "It's very exciting, but also very important as we move into a new era that we do so thoughtfully, and always with the families in mind," she says.

The largest ever genetic study into autism has identified many more new genes involved in the disorder.

Oxford researchers writing in the journal Nature hope now to establish whether genetic tests can help in making early diagnosis.

The team also say the discovery of new genes should help in the identification of drugs to combat symptoms.

It is thought that about half a million people in Britain have autism to varying degrees.

Many are able to lead relatively normal lives while others require support throughout. Those with the condition find it difficult to socialise and communicate with others.

It has been known for some time that autism has a strong genetic influence - but up until now only eight or nine genes have been confirmed as playing a role.

Researchers using a new systematic analysis technique identified faults in many more regions of DNA in the 1,000 patients involved in the study. They say they might eventually find up to 300 genes which are involved.

Some of the newly identified genes play a role in developing connections between brain cells, while others are involved in sending signals within brain cells.

The study should help identify precisely which parts of the brain fail in patients.

Faulty genes

According to one of the researchers involved, Professor Tony Monaco of Oxford University, this could help in the development of new drugs to ease some of the symptoms of autism, particularly in severely ill patients.

"We do hope to start working with pharmaceutical companies. One hope is that drugs that they might have already developed for other purposes could be used because they have a role in autism."

The researchers have identified these new regions of DNA in a fifth of the patients they have studied. They believe they will find many more genes in the remaining patients as they analyse their DNA with more sensitive methods.

Continue reading the main story

The idea is to track these genes in their families and see if we can offer genetic counselling and what information we can offer the patient

Professor Tony Monaco University of Oxford

The team hopes to catalogue all the genes involved in autism within the next two years.

The discovery of so many genes which all play a small part in the disease may help explain why the disorder manifests itself differently in individuals. Each person has a unique combination of faulty genes.

The study also raises the prospect of developing genetic tests to identify susceptibility to autism at an early stage. Researchers at Oxford and Newcastle are now applying for funding to carry out a pilot study on 1,000 newly diagnosed children to see if such a genetic test would be useful.

According to Professor Monaco: "The idea is to track these genes in their families and see if we can offer genetic counselling and what information we can offer the patient. If we can show the efficacy of that in the clinical care of the patients then we can push for it into genetic testing in the NHS."

"We'd hope that within two years we'd come up with clinical practice guidelines. So families can expect that we might be able to offer in the very near future some further DNA analysis of all patients."

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But Dr Gina Gomez de la Cuesta of The National Autistic Society is more cautious.

She says: "This study furthers our understanding of genetic variation in autism, however there is a great deal more research to be done. Research into autism is constantly evolving but the exact causes are as yet still unknown.

"The difficulty of establishing gene involvement is compounded by the interaction of genes with the environment. Genetic testing for autism is still a long way off, given that autism is so complex.

"Whilst it is very important that research continues, it is also crucial that those living with the condition have access to appropriate advice and information, as the right support at the right time can make an enormous difference to people's lives."

The researchers behind the study, from Imperial College London and the University of South Australia, suggest that their findings could ultimately lead to a simple urine test to determine whether or not a young child has autism.

Autism affects an estimated one in every 100 people in the UK. People with autism have a range of different symptoms, but they commonly experience problems with communication and social skills, such as understanding other people’s emotions and making conversation and eye contact.

People with autism are also known to suffer from gastrointestinal disorders and they have a different makeup of bacteria in their guts from non-autistic people.

Today's research shows that it is possible to distinguish between autistic and non-autistic children by looking at the by-products of gut bacteria and the body’s metabolic processes in the children's urine. The exact biological significance of gastrointestinal disorders in the development of autism is unknown.

The distinctive urinary metabolic fingerprint for autism identified in today's study could form the basis of a non-invasive test that might help diagnose autism earlier. This would enable autistic children to receive assistance, such as advanced behavioural therapy, earlier in their development than is currently possible.

At present, children are assessed for autism through a lengthy process involving a range of tests that explore the child's social interaction, communication and imaginative skills. Early intervention can greatly improve the progress of children with autism but it is currently difficult to establish a firm diagnosis when children are under 18 months of age, although it is likely that changes may occur much earlier than this.

The researchers suggest that their new understanding of the makeup of bacteria in autistic children's guts could also help scientists to develop treatments to tackle autistic people's gastrointestinal problems.

The researchers used H NMR Spectroscopy to analyse the urine of children aged between 3 and 9

Professor Jeremy Nicholson, the corresponding author of the study, who is the Head of the Department of Surgery and Cancer at Imperial College London, said: "Autism is a condition that affects a person's social skills, so at first it might seem strange that there's a relationship between autism and what’s happening in someone's gut. However, your metabolism and the makeup of your gut bacteria reflect all sorts of things, including your lifestyle and your genes. Autism affects many different parts of a person's system and our study shows that you can see how it disrupts their system by looking at their metabolism and their gut bacteria.

"We hope our findings might be the first step towards creating a simple urine test to diagnose autism at a really young age, although this may be a long way off - such a test could take years to develop. We know that giving therapy to children with autism when they are very young can make a huge difference to their progress. A urine test might enable professionals to quickly identify children with autism and help them early on," he added.

The researchers are now keen to investigate whether metabolic differences in people with autism are related to the causes of the condition or are a consequence of its progression.

The researchers reached their conclusions by using H NMR Spectroscopy to analyse the urine of three groups of children aged between 3 and 9: 39 children who had previously been diagnosed with autism, 28 non-autistic siblings of children with autism, and 34 children who did not have autism who did not have an autistic sibling.

They found that each of the three groups had a distinct chemical fingerprint. Non-autistic children with autistic siblings had a different chemical fingerprint than those without any autistic siblings, and autistic children had a different chemical fingerprint than the other two groups.

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For further information please contact:

Laura Gallagher
Research Media Relations Manager
Imperial College London
e-mail: l.gallagher@imperial.ac.uk
Telephone: +44 (0)207 594 8432 or ext. 48432
Out of hours duty Press Officer: +44 (0)7803 886 248

Notes to editors:

1. "Urinary Metabolic Phenotyping Differentiates Children with Autism from Their Unaffected Siblings and Age-Matched Controls," Journal of Proteome Research, published in print 4 June 2010

Corresponding author: Jeremy Nicholson, Imperial College London (for full list of authors please see paper)

2. About Imperial College London

Consistently rated amongst the world's best universities, Imperial College London is a science-based institution with a reputation for excellence in teaching and research that attracts 14,000 students and 6,000 staff of the highest international quality. Innovative research at the College explores the interface between science, medicine, engineering and business, delivering practical solutions that improve quality of life and the environment - underpinned by a dynamic enterprise culture.

Since its foundation in 1907, Imperial's contributions to society have included the discovery of penicillin, the development of holography and the foundations of fibre optics. This commitment to the application of research for the benefit of all continues today, with current focuses including interdisciplinary collaborations to improve global health, tackle climate change, develop sustainable sources of energy and address security challenges.

In 2007, Imperial College London and Imperial College Healthcare NHS Trust formed the UK's first Academic Health Science Centre. This unique partnership aims to improve the quality of life of patients and populations by taking new discoveries and translating them into new therap ies as qu ickly as possible. Website: www.imperial.ac.uk

Is vinyl bad for baby? Young children with vinyl flooring in their rooms had a higher rate of autism than those who didn't, according to a recent study.
FLICKR/VETCW3

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Children who live in homes with vinyl floors, which can emit chemicals called phthalates, are more likely to have autism, according to research by Swedish and U.S. scientists published Monday.

The study of Swedish children is among the first to find an apparent connection between an environmental chemical and autism.

The scientists were surprised by their finding, calling it "far from conclusive." Because their research was not designed to focus on autism, they recommend further study of larger numbers of children to see whether the link can be confirmed.

Bernard Weiss, a professor of environmental medicine at University of Rochester and a co-author of the study, said the connection between vinyl flooring and autism "turned up virtually by accident." He called it "intriguing and baffling at the same time."

Experts suspect that genetic and environmental factors combine to cause autism, a neurodevelopmental disorder that has increased dramatically in children over the past 20 years.

In the new study, Swedish families were asked questions about flooring as part of research investigating allergies and indoor air pollutants. Phthalates, used to make soft plastic, have in previous studies been connected to allergies and asthma.

The study was based on surveys that asked a variety of questions related to the indoor environment. Of the study's 4,779 children between the ages of 6 and 8, 72 had autism, including 60 boys.

The researchers found four environmental factors associated with autism: vinyl flooring, the mother's smoking, family economic problems and condensation on windows, which indicates poor ventilation. 

Infants or toddlers who lived in bedrooms with vinyl, or PVC, floors were twice as likely to have autism five years later, in 2005, than those with wood or linoleum flooring.

"A greater proportion of children with autism spectrum disorder were reported to have PVC as flooring material in the child's and the parent's bedroom in 2000 compared to children without autism spectrum disorder," the scientists wrote in the journal Neurotoxicology. "Furthermore, children with autism spectrum disorder were reported to live in homes with more condensation on the inside of the windows, which...may be seen as an indicator for deficient ventilation."

Children in the study also were twice as likely to have autism if their mothers smoked cigarettes. The autistic children also were more likely to have asthma.

The lead investigator was Carl-Gustav Bornehag of Karlstad University in Sweden, who in 2004 found a high rate of asthma and allergies among children living in households with dust containing phthalates.

The scientists reported that they do not know if asthma and autism are related, or whether phthalates contributed to the risk of autism by some other mechanism, such as disruption of hormones. Phthalates in animal tests interfere with male hormones and sexual development.

"The data are far from conclusive. They are puzzling, even baffling, and not readily explicable at this time," the scientists wrote in their study. "However, because they are among the few clues that have emerged about possible environmental contributions to autistic disorders, we believe that they should be weighed carefully and warrant further study."

Several scientists who did not participate in the study cautioned that it has too many limitations to draw conclusions, but they suggested that new studies be designed to look for a connection between autism and indoor air pollutants.

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How Darwin's Little-Known Work Impacts Current Schizophrenia and Autism Treatment

ScienceDaily (May 10, 2010) — Historical research by Peter J. Snyder, PhD, reveals more of Charles Darwin's thinking when he completed what may be the first example of a prospective "single-blind" study of human perception of emotional expression. Through scrutiny of Darwin's work, including previously unpublished handwritten notes on his experiments, Snyder explains how this early experiment has direct implications to current work today in the areas of schizophrenia, autism spectrum disorders and other neuropsychiatric conditions.

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See Also:

Health & Medicine

• Workplace Health
• Human Biology
• Mental Health Research

Mind & Brain

• Psychology
• Perception
• Autism

Reference

• Sex linkage
• Introduction to genetics
• Emotion
• Double blind

The paper is published in the Volume 19, Issue 2, 2010 of the Journal of the History of the Neurosciences.

Charles Darwin is well-known for his pioneering theory of evolution, but far less is known about some of his later work, such as delving into experimental psychology. While researching his book, The Expression of the Emotions in Man and Animals (1872), Darwin corresponded with a French neurologist, G.B.A. Duchenne. Duchenne conducted experiments on human facial expression of emotion by applying electrical stimulation directly to facial muscles. He produced a set of 65 photographic plates to show his belief that there are different muscles in the face that are responsible for every single, discrete emotion.

Darwin studied Duchenne's work closely and doubted this view. He believed there was a smaller set core of emotions commonly expressed cross-culturally. As a result, Darwin designed and conducted a truly novel scientific test of Duchenne's claim in what may be the first ever single-blind study of the recognition of human facial expression of emotion.

Snyder, who is vice president of research for Lifespan, began an in-depth study of this experiment and relied on what is believed to be previously unpublished notes recorded by Darwin with the help of his wife, Emma.

Snyder says, "No one in history has done more to shape modern biological science. After finding these handwritten tables in the Cambridge University Library (with the assistance of staff from the Darwin Correspondence Project), I found it to be a phenomenal experience to find something new and remarkable in Darwin's work." Snyder continues, "Darwin is certainly not one of the first who come to mind when we think of human experimental psychology, but here is proof of the tremendous impact he has had upon our current work and thinking."

Snyder, who is also professor of neurology at The Warren Alpert Medical School of Brown University, explains that Darwin designed an "experiment" that he conducted at his home, during which he showed a selection of Duchenne's photographic plates to 24 guests. To determine which of the plates to include in his book, Darwin initially chose 11 of the plates and listed them in a data table, which Snyder uncovered in the Cambridge Library. Darwin then showed those images without identifying titles to his guests and asked them to describe the emotion represented in each photographic image.

Snyder says, "As far as we are aware, the images of these three data tables from Darwin's experiment are being reprinted in this paper for the first time. The markings in the tables tell us that he started to tabulate the results of his 'subjects' to determine the fewest number of the 11 plates that were associated with the most agreement with respect to the identification of the emotion being displayed." Snyder's research sought to determine, specifically, which of the original 65 plates in the larger Duchenne folio he specifically chose as the 11 stimuli in his experiment. "We can only surmise which plates he chose based on his own labels for these images, reflected on the y-axis of the data tables, and by relating this information to specific mention of this experiment in Expression and his actual selection of the woodcut reproductions of the original photographic plates found in the first edition."

Recognition of emotion, and tests for it, serve as a proxy for "social cognition" -- the accurate and rapid recognition of emotion in human faces -- have been shown repeatedly to be compromised in a variety of psychiatric diseases. "This single and very novel psychological experiment is a little-known forerunner for an entire modern field of study with contemporary clinical relevance," says Snyder. Darwin's specific questions regarding the cardinal human emotions remain an actively studied topic today, with the intent of identifying novel biomarkers to promote and assist in the development of new therapies for the treatment of schizophrenia, autism and other neuropsychiatric diseases. Snyder notes, "Just over the past three years, we have designed and validated a facial recognition of emotion test that has been used in multiple drug trials, and is essentially the same paradigm pioneered by Darwin in the late 1860's and early 1870's." As Snyder says, "The core skills or abilities required for successful completion of our tests today differ very little from that small experiment conducted by Darwin at his home in England approximately 140 years ago.

"Charles Darwin provided the evidence and model that forms the cornerstone of modern biology, as well as the framework by which we place advances in genetics and molecular biomedicine into context. Far less known is his unique contribution to experimental psychology and the beginnings of a line of enquiry that is being used today in the discovery of novel therapeutics for the treatment of several devastating human disorders, including autism spectrum and schizophrenia. I, for one, continue to remain in awe of Darwin's contributions," Snyder comments.

Other researchers who worked with Snyder include Rebecca Kaufman of the department of neuroscience at Brown University; John Harrison, PhD, division of neurosciences and mental health at the Imperial College of London, UK, and CogState, Ltd., in Melbourne, Victoria, Australia; and Paul Maruff, PhD, centre for neuroscience, University of Melbourne and CogState, Ltd., Melbourne, Victoria, Australia.

Disco dancing 'fixed something in my mind'

by Alex Hudson BBC News

Jimmy has won over 20 championships since he began disco dancing

Dressed in feathers and sequins and pirouetting across a packed ballroom, 10-year-old Jimmy Hobley is competing for the Disco Kid championship in Blackpool - the biggest disco championship in Europe.

But what makes Jimmy different from the other dancers vying for the title is that he has autism.

Until he began dancing, he used to wear splints on his legs to help his walking and, until less than two years ago, he could not read or write.

"Before the dancing, I was a nobody," says Jimmy. "I was a regular school kid with special needs.

"Dancing makes me feel like I'm normal… like all the other kids… it's like somebody's fixed my brain inside."

There are over half a million people in the UK with autism and it tends to run in families. All three children in the Hobley family, who live in Redcar, Teesside, have the disorder.

George, James's twin, "was always the leader" says Sheila Hobley, the mother of the boys.

"He spoke first, walked first and was the only one who could read. James was always in George's shadow.

"James's life at home was playing on his computer games and a lot of television."

But that all changed when a leaflet for a local dance class came through the door.

"James was keen, was throwing himself around unable to do the splits. He was trying his best but at times I thought he would injure himself," says Sheila.

Within four months, he was at his first disco competition with a routine of his own. He was only expected to make the first round but he made it right through to the final.

He hardly slept the night after the first competition and could not wait for the next one.

Since he began, he has won over 20 competitions, including the beginners' title in the World Championships when he was only eight.

'Big jump'

This new talent instilled a new found confidence and, while many children with autism find it difficult to form relationships, it gave him friends from all around the UK.

Along with the disco, Jimmy now has a new passion - ballet.

His concentration and ability to remember ballet positions and routines shows the remarkable intellectual development he has made, along with dramatic improvements with his reading and writing.

Since he started dancing there's been a massive improvement. It's like someone switched the light on Sheila Hobley

"In general most children with autism would show gradual improvements over time," says Dr Morrell, who diagnosed Jimmy at the age of four.

"The difference with James is that he appears to have made a big jump in such a short time and that is unusual I'd say."

And Sheila is sure that it has something to do with his dancing.

"I think since he started dancing there's been a massive improvement. It's like someone switched the light on," she says.

And she is not the only one.

"I am convinced," says Desmond Kelly, artistic director of Elmhurst School for Dance.

"One day someone will do a proper study of what dance does to the brain. When you dance you have to think of everything from the finger tips to the toes."

Scientific evidence

The idea that dancing could help those with learning difficulties is nothing new.

Trial dance classes for autistic children were reported by the New York Times as long ago as 1985 and countless anecdotes of the benefit of dancing fill up internet message boards the world over.

The problem is finding hard, scientific evidence behind the stories. Even Sheila admits that the lack of research means some are sceptical.

Jimmy's ultimate dream is to become a professional ballet dancer

"Some people say he might have started reading and writing anyway," she says. "But if he hadn't tried dancing then I could still have James locked in his own world. I really can't say."

The National Autistic Society (NAS) says that it is the outlet, not just the dancing itself, that could have helped Jimmy's transformation.

"People with autism are often isolated and excluded from social opportunities due to a lack of understanding of their disability and this is especially true of sporting and activity groups," says Carol Povey, director of the NAS's Centre for Autism.

"Whilst dancing may not be appropriate for everyone, it is certainly true that attending a group and taking part in an activity where the individual is accepted and valued for what they can offer can have a huge impact on self esteem and help teach social skills."

Dancing - by all accounts - has been great for Jimmy but it hasn't been all plain sailing for the family.

With outfits costing more than £600 and entry fees to competitions, dancing has not been a cheap hobby and George, without something to focus his attention on, is struggling.

Sheila says: "I know that George is feeling it because he has somehow been left behind. He's not needed by Jimmy. He's grown away from Jimmy in quite a lot of respects."

Despite the worries about George, Sheila says that "even with the benefit of hindsight we would do it again" because of the progress Jimmy has made.

His dancing teacher Anita Brown has high hopes: "The rate Jimmy is going with the attitude that he's got, if he keeps that manner, he's destined for success," she says.

And while Jimmy dreams of dancing with Birmingham Royal Ballet and then perhaps even dancing in Russia, Sheila has more immediate concerns for her son.

"He's going to the Disco World Championships in June in Blackpool. He's got another outfit for that - we've saved up for it for nearly a year now.

"If he can make the final, anything can happen."