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  • richardmitnick 12:42 pm on October 18, 2018 Permalink | Reply
    Tags: , Autism Spectrum Disorder (ASD), ,   

    From Science News: “To unravel autism’s mysteries, one neuroscientist looks at the developing brain” 

    From Science News

    October 16, 2018
    Laura Sanders

    Understanding how the disorder arises could lead to new interventions.

    HEAD START Studying early signs of autism in the developing brain may ultimately help researchers figure out why more boys are diagnosed with the disorder than girls. Africa Studio/Shutterstock

    As the number of children diagnosed with autism spectrum disorder increases, so too has research on the complex and poorly understood disorder. With powerful genetic tools, advanced brain-imaging methods and large groups of children to study, the field is poised to make big contributions in understanding — and potentially treating — autism.

    Neuroscientist Kevin Pelphrey, who is formerly of George Washington University in Washington, D.C., but has recently moved to the University of Virginia in Charlottesville, studies autism’s beginnings. He described some of his findings about the link between brain development and the disorder on October 15 at a meeting of the Council for the Advancement of Science Writing.

    Here are some of the key points Pelphrey made on how autism may get its start in the developing brain, how the disorder is different between boys and girls, and how large, long-term studies of children with autism might yield clues about the condition.

    What causes autism spectrum disorder?

    For most cases, no one knows. There’s likely no single cause — environmental and genetic risk factors work in combination. In some children, rare mutations in key genes have been linked to the disorder. More commonly, many genetic changes, each with a small influence on overall risk, may increase a child’s likelihood of developing the disorder.

    With the number of autism diagnoses growing, partly due to better detection, researchers are looking at potential factors beyond genetics, such as parents’ age, premature birth and maternal obesity.

    When does the disorder begin?

    On average, kids are diagnosed with autism around the age of 4, though symptoms can appear by around age 2. But Pelphrey says the disorder starts long before then, as the brain is built in utero (SN: 4/29/17, p. 10). Evidence is growing that alterations in brain development, perhaps in nerve cell connections or communication between brain regions, are involved in the disorder.

    By studying newborns and even fetuses, Pelphrey aims to uncover some of the key differences in the brains of babies who go on to develop the disorder. That early detection could ultimately allow clinicians to change the brain’s developmental trajectory in a way that prevents the disorder.

    How close are scientists to an autism biomarker?

    Biological signatures, or biomarkers, of autism might enable both earlier detection and a way to see if interventions to treat the disorder are working. In 2017, researchers found signatures of autism [PubMed] in the brains of 6-month-old babies who would go on to be diagnosed with the disorder at age 2. Other attempts to find autism markers involve abnormal neural activity [Journal of Neurosciene], differences in eye contact [Nature] and even changes in gut microbes.

    But for a biomarker to be useful, it needs to check a lot of boxes, Pelphrey said. It must be reliable, predictive, informative at the individual level and easy to bring into pediatricians’ offices, among other things. So far, none of the proposed biomarkers check all of those boxes.

    Along with colleagues, Pelphrey is studying the utility of a brain-imaging technique that could make spotting abnormal neural activity a little easier for clinicians. Called functional near-infrared spectroscopy, it uses light to measure oxygenated blood as a proxy of brain activity. The method is less precise than MRI but cheaper and more mobile.

    Why do more boys get autism diagnoses than girls?

    Researchers don’t yet know for sure. Scientists recently began studying the differences between boys and girls, in the hopes of explaining why an estimated four boys are diagnosed with autism for every girl diagnosed. One clue comes from big genetic studies that suggest girls are somehow more resistant to genetic mutations than boys (SN Online: 2/27/14). Sex hormones may also have something to do with the differences between boys and girls, Pelphrey says.

    What’s more, by looking at brain behavior, scientists are beginning to suspect that girls’ autism is, at its core, distinct from that of boys. “The behaviors that we call autism, while on the surface are the same, have different biological origins,” Pelphrey says.

    Females with autism, for example, are more likely to have stronger social abilities, though it may be hard work for the girls [PubMed], a 2017 study suggests.

    What’s the future of autism research?

    Autism is an idiosyncratic disorder, one that’s likely a bit different for each person. As such, making progress toward understanding common pathways will require large numbers of subjects and many types of measurements.

    With collaborators, Pelphrey has collected data on genetics, brain behavior and structure, and behavior for about 500 children with autism, about half of whom are girls, he says. That project will continue to recruit more participants and also collect personal experiences and adult outcomes.

    Other large research collectives will likely move the field forward, such as the Simons Foundation’s Simons Simplex Collection, which contains genetic samples from 2,600 families with children with autism.

    See the full article here .


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  • richardmitnick 11:12 am on October 18, 2018 Permalink | Reply
    Tags: Autism Spectrum Disorder (ASD), Power of Neuorgaming Center, , UC San Diego Qualcomm Institute   

    From Science Node: “Don’t look away” 

    Science Node bloc
    From Science Node

    16 Oct, 2018
    Alicia Clarke

    What if eye-tracking games could improve the lives of people living with autism?

    At some point we’ve probably all found ourselves immersed in a video game—having fun while trying to advance to the next level. But what if games could do more than entertain? What if they could improve cognitive behaviors and motor skills at the same time?

    If you look away, you crash your spaceship. Gaze-driven games harness the connection between eye movement and attention, training players that better engagement gets better results. Courtesy Alex Matthews, UC San Diego Qualcomm Institute.

    Those are some of the questions that led neuroscientist and eye tracking expert Leanne Chukoskie to create video games that do just that. Chukoskie now directs the Power of Neuorgaming Center (aptly shortened to PoNG) at the Qualcomm Institute. There she and her team create video games to help people on the autism spectrum lead fuller lives.

    Filling a gap

    Together with Jeanne Townsend, director of UC San Diego’s Research on Autism and Development Lab, Chukoskie saw an opening to explore neurogaming as a way to improve attention, gaze control and other behaviors associated with autism. The video games are gaze-driven, which means that they are played with the eyes, and not a mouse or a touchscreen.

    “We realized there was enormous growth potential in autism intervention—where you translate research into tools that can help people,” Chukoskie said. “Jeanne and I wanted to intervene, not just measure things. We wanted our work to be useful to the world sooner rather than later. And these games are the result of that goal.”

    The power of attention. UCSD researchers are developing games that train attention-orienting skills like a muscle, improving social development outcomes for children with autism. Courtesy Global Silicon Valleys.

    Chukoskie and her team, which includes adults on the autism spectrum and high school students, created four games and are busy making more. Their work was recently on display at the Qualcomm Institute during PoNG’s 2018 Internship Showcase.

    “Dr. Mole and Mr. Hide is one of our favorites. It’s basically what you think it is—all these little moles pop out of holes and you have to look at them to knock them back down. There are ninja moles you want to hit. Then the player begins to see professor moles, which we don’t want them to hit. (My joke is we don’t hit professors at UC San Diego!) This promotes fast and accurate eye movement and builds inhibitory control,” she explained.

    Beyond the lab

    Getting the games in the hands of people who can benefit from them most is another aspect that keeps Chukoskie busy. She and Townsend co-founded BrainLeap Technologies in 2017 to make that goal a reality. BrainLeap Technologies is headquartered in the Qualcomm Institute Innovation Space, just a short walk from the PoNG lab.

    Dr. Mole and Mr. Hide. Knocking down moles as they pop out of holes promotes fast and accurate eye movement and builds inhibition control. Courtesy BrainLeap Technologies.

    “We want to make the games available to families, and eventually schools, so they do the most good for the most people.” said Chukoskie. “Starting a company wasn’t what I had in mind initially, but it soon became clear that’s what we needed to do.”

    As with her lab, students and interns play a critical role at BrainLeap Technologies. They bring their creativity, energy and skill. In return, they develop professional skills they can take into the workforce and their communities.

    The power of collaboration

    Not just for autism. Neuroscientist Leanne Chukoskie is also exploring using video game simulations with sensors that monitor stress responses as a possible intervention against human trafficking. Courtesy Alex Matthews, UC San Diego Qualcomm Institute.

    Chukoskie’s enthusiasm and knack for developing products with real-world applications is creating buzz within the walls of the Qualcomm Institute. She is exploring other fields where neurogaming could have an impact. One area is human trafficking. Could video simulations with sensors that monitor stress responses help people recognize subtle signs of danger first in a simulation and then later in the real world? The opportunities for interdisciplinary collaborations are endless.

    “UC San Diego, and especially the Qualcomm Institute, opened my eyes to what can happen when we bring the power of our expertise together,” Chukoskie said. “On top of that, the institute has a strong social mission. It didn’t take long for it to become obvious that the Qualcomm Institute was the right place for our lab and our business.”

    See the full article here .

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  • richardmitnick 10:11 am on March 8, 2018 Permalink | Reply
    Tags: , Autism Spectrum Disorder (ASD), ,   

    From Stanford University: “Finding solutions for people with autism and their families” 

    Stanford University Name
    Stanford University

    March 5, 2018
    Erin Digitale

    No image caption or credit.

    More than 1 in 68 children are living with some form of autism, and each diagnosis has a ripple effect on families, schools and medical professionals who support those individuals. Stanford experts have been part of the teams not only diagnosing and treating the condition, but also trying to understand its causes and helping people with autism and their families live full lives.


    Recent Stanford advances in understanding autism have come, in part, through scientists working across disciplinary boundaries. Clinicians, neuroscientists, engineers and educators have been collaborating to help people with autism and their families.

    Diagnosing and treating autism

    Autism emerges gradually and its signs run across a spectrum from mild to severe, making it a challenge to diagnose. Without this accurate information, parents can’t start accessing treatment for their children. Making it faster and easier to diagnose the condition, new tools aim to speed the process of getting kids started in therapy.

    Those therapies are also getting better, with drugs under development that target cardinal features of autism, and apps that teach people with autism to communicate and interact. Speeding the rate at which children start getting treatment, these advances improve their chances of receiving help.

    Understanding autism

    Despite the number of people diagnosed with autism each year and the high personal and financial cost of supporting those individuals, very little is known about what disruption in the brain’s intricate wiring causes the condition.

    Stanford scientists are now beginning to unravel the brain differences that underlie autism, and also tease apart how those changes alter the way autistic brains process and respond to the world. These discoveries have come, in part, through advances in technologies for imaging the brain at work and for probing the neurons’ inner workings, and in some cases through a very personal quest to understand this devastating disease.

    Living with autism

    People’s daily interactions rely on subtle social clues and facial expressions that are critical for communication but indecipherable to those with autism. Deficits in social and emotional skills can range from challenging to completely disabling, and put an incredible burden on those who care for people with autism.

    Stanford researchers have created a number of tools to help people with autism navigate their daily lives and to support families in accessing resources. These include classes to help families understand and participate in autism therapy and apps to connect families with resources. There are even engineering courses at Stanford that teach students how to design for people with conditions including autism.

    See the full article here .

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  • richardmitnick 9:39 am on March 9, 2017 Permalink | Reply
    Tags: , Autism Spectrum Disorder (ASD), Big data reveals more suspect autism genes, ,   

    From COSMOS: “Big data reveals more suspect autism genes” 

    Cosmos Magazine bloc


    09 March 2017
    Paul Biegler

    Deep data dives are revealing more complexities in the autism story. luckey_sun

    Researchers have isolated 18 new genes believed to increase risk for Autism Spectrum Disorder (ASD), a finding that may pave the way for earlier diagnosis and possible future drug treatments for the disorder.

    The study, published this week in Nature Neuroscience, used a technique called whole genome sequencing (WGS) to map the genomes of 5193 people with ASD.

    WGS goes beyond traditional analyses that look at the roughly 1% of DNA that makes up our genes to take in the remaining “noncoding” or “junk” DNA once thought to have little biological function.

    The study, led by Ryan Yuen of the Hospital for Sick Children in Toronto, Canada, used a cloud-based “big data” approach to link genetic variations with participants’ clinical data.

    Researchers identified 18 genes that increased susceptibility to ASD, noting people with mutations in those genes had reduced “adaptive functioning”, including the ability to communicate and socialise.

    “Detection of the mutation would lead to prioritisation of these individuals for comprehensive clinical assessment and referral for earlier intervention and could end long-sought questions of causation,” the authors write.

    But the study also found increased variations in the noncoding DNA of people with ASD, including so-called “copy number variations” where stretches of DNA are repeated. The finding highlights the promise of big data to link fine-grained genetic changes with real world illness, something the emerging discipline of precision medicine will harness to better target treatments.

    Commenting on the study, Dr Jake Gratten from the Institute for Molecular Bioscience at the University of Queensland said, “whole genome sequencing holds real promise for understanding the genetics of ASD, but establishing the role of noncoding variation in the disorder is an enormous challenge.”

    “This study is a good first step but we’re not there yet – much larger studies will be needed,” he said. ASD affects around 1% of the population, and is characterised by impaired social and emotional communication, something poignantly depicted by John Elder Robeson in his 2016 memoir Switched On.

    But the study findings went beyond autism, isolating ASD-linked genetic changes that increase risk for heart problems and diabetes, raising the possibility of preventative screening for participants and relatives.

    The authors note that 80% of the 61 ASD-risk genes already discovered by the project, a collaboration between advocacy group Autism Speaks and Verily Life Sciences, and known as MSSNG, are potential research targets for new drug treatments.

    But the uncomfortable nexus between scientific advances and public policy is also highlighted this week in an editorial in the New England Journal of Medicine. Health policy researchers David Mandell and Colleen Barry argue that planned Trump administration rollbacks threaten services to people with autism.

    Any repeal of the Affordable Care Act (“Obamacare”) they write, could include cuts to the public insurer Medicaid and subsequent limits on physical, occupational and language therapy for up to 250,000 children with autism.

    The authors also warn that comments made by US Attorney General Jeff Sessions bode ill for the Individuals with Disabilities Education Act (IDEA), legislation that guarantees free education for children with disabilities such as autism. Sessions has reportedly said the laws “may be the single most irritating problem for teachers throughout America today.”

    The authors also voice concern the Trump administration’s embrace of debunked links between vaccination and autism are a major distraction from these “growing threats to essential policies that support the health and well-being of people with autism or other disabilities”.

    See the full article here .

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