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  • richardmitnick 7:43 am on May 12, 2020 Permalink | Reply
    Tags: "Sleep difficulties in the first year of life linked to altered brain development in infants who later develop autism", , ASD-Autism Spectrum Disorder, ,   

    From University of Washington: “Sleep difficulties in the first year of life linked to altered brain development in infants who later develop autism” 

    From University of Washington

    May 7, 2020
    Kim Eckart

    1
    An 8-month-old boy wears an EEG cap to measure brain activity during a visit to the UW Autism Center.Kiyomi Taguchi/U. of Washington


    Studying baby brains at UW Autism Center

    Infants spend most of their first year of life asleep. Those hours are prime time for brain development, when neural connections form and sensory memories are encoded.

    But when sleep is disrupted, as occurs more often among children with autism, brain development may be affected, too. New research led by the University of Washington finds that sleep problems in a baby’s first 12 months may not only precede an autism diagnosis, but also may be associated with altered growth trajectory in a key part of the brain, the hippocampus.

    In a study published May 7 in the American Journal of Psychiatry, researchers report that in a sample of more than 400 6- to 12-month-old infants, those who were later diagnosed with autism were more likely to have had difficulty falling asleep. This sleep difficulty was associated with altered growth trajectories in the hippocampus.

    “The hippocampus is critical for learning and memory, and changes in the size of the hippocampus have been associated with poor sleep in adults and older children. However, this is the first study we are aware of to find an association in infants as young as 6 months of age,” said lead author Kate MacDuffie, a postdoctoral researcher at the UW Autism Center.

    As many as 80% of children with autism spectrum disorder have sleep problems, said Annette Estes, director of the UW Autism Center and senior author on the study. But much of the existing research, on infants with siblings who have autism, as well as the interventions designed to improve outcomes for children with autism, focus on behavior and cognition. With sleep such a critical need for children — and their parents — the researchers involved in the multicenter Infant Brain Imaging Study Network, or IBIS Network, believed there was more to be examined.

    “In our clinical experience, parents have a lot of concerns about their children’s sleep, and in our work on early autism intervention, we observed that sleep problems were holding children and families back,” said Estes, who is also a UW professor of speech and hearing sciences.

    Researchers launched the study, Estes said, because they had questions about how sleep and autism were related. Do sleep problems exacerbate the symptoms of autism? Or is it the other way around — that autism symptoms lead to sleep problems? Or something different altogether?

    “It could be that altered sleep is part-and-parcel of autism for some children. One clue is that behavioral interventions to improve sleep don’t work for all children with autism, even when their parents are doing everything just right. This suggests that there may be a biological component to sleep problems for some children with autism,” Estes said.

    To consider links among sleep, brain development and autism, researchers at the IBIS Network looked at MRI scans of 432 infants, surveyed parents about sleep patterns, and measured cognitive functioning using a standardized assessment. Researchers at four institutions — the UW, University of North Carolina at Chapel Hill, Washington University in St. Louis and the Children’s Hospital of Philadelphia — evaluated the children at 6, 12 and 24 months of age and surveyed parents about their child’s sleep, all as part of a longer questionnaire covering infant behavior. Sleep-specific questions addressed how long it took for the child to fall asleep or to fall back asleep if awakened in the middle of the night, for example.

    At the outset of the study, infants were classified according to their risk for developing autism: Those who were at higher risk of developing autism — about two-thirds of the study sample — had an older sibling who had already been diagnosed. Infant siblings of children with autism have a 20 percent chance of developing autism spectrum disorder — a much higher risk than children in the general population.

    A 2017 study by the IBIS Network found that infants who had an autistic older sibling and who also showed expanded cortical surface area at 6 and 12 months of age were more likely to be diagnosed with autism compared with infants without those indicators.

    In the current study, 127 of the 432 infants were identified as “low risk” at the time the MRI scans were taken because they had no family history of autism. They later evaluated all the participants at 24 months of age to determine whether they had developed autism. Of the roughly 300 children originally considered “high familial risk,” 71 were diagnosed with autism spectrum disorder at that age.

    Those results allowed researchers to re-examine previously collected longitudinal brain scans and behavioral data and identify some patterns. Problems with sleep were more common among the infants later diagnosed with autism spectrum disorder, as were larger hippocampi. No other subcortical brain structures were affected, including the amygdala, which is responsible for certain emotions and aspects of memory, or the thalamus, a signal transmitter from the spinal cord to the cerebral cortex.

    The UW-led sleep study is the first to show links between hippocampal growth and sleep problems in infants who are later diagnosed with autism.

    Other studies have found that “overgrowth” in different brain structures among infants who go on to develop those larger structures has been associated, at different stages of development, with social, language and behavioral aspects of autism.

    While the UW sleep study found a pattern of larger hippocampal volume, and more frequent sleep problems, among infants who went on to be diagnosed with autism, what isn’t yet known is whether there is a causal relationship. Studying a broader range of sleep patterns in this population or of the hippocampus in particular may help determine why sleep difficulties are so prevalent and how they impact early development in children with autism spectrum disorder.

    “Our findings are just the beginning — they place a spotlight on a certain period of development and a particular brain structure but leave many open questions to be explored in future research,” MacDuffie said.

    A focus on early assessment and diagnosis prompted the UW Autism Center to establish an infant clinic in 2017. The clinic provides evaluations for infants and toddlers, along with psychologists and behavior analysts to create a treatment plan with clinic- and home-based activities — just as would happen with older children.

    The UW Autism Center has evaluated sleep issues as part of both long-term research studies and in the clinical setting, as part of behavioral intervention.

    “If kids aren’t sleeping, parents aren’t sleeping, and that means sleep problems are an important focus for research and treatment,” said MacDuffie.

    The authors note that while parents reported more sleep difficulties among infants who developed autism compared to those who did not, the differences were very subtle and only observed when looking at group averages across hundreds of infants. Sleep patterns in the first years of life change rapidly as infants transition from sleeping around the clock to a more adult-like sleep/wake cycle. Until further research is completed, Estes said, it is not possible to interpret challenges with sleep as an early sign of increased risk for autism.

    The study was funded by the National Institutes of Health, Autism Speaks and the Simons Foundation. Dr. Stephen Dager, professor of radiology at the UW School of Medicine and Tanya St. John, research scientist at the UW Autism Center, were co-authors. Additional co-authors, all at IBIS Network institutions, were Mark Shen, Martin Styner, Sun Hyung Kim and Dr. Joseph Piven at the University of North Carolina at Chapel Hill; Sarah Paterson, now at the James S. McDonnell Foundation; Juhi Pandey at the Children’s Hospital of Philadelphia; Jed Elison and Jason Wolff at the University of Minnesota; Meghan Swanson at the University of Texas at Dallas; Kelly Botteron at Washington University in St. Louis; and Dr. Lonnie Zwaigenbaum at the University of Alberta.

    See the full article here .


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    The University of Washington is one of the world’s preeminent public universities. Our impact on individuals, on our region, and on the world is profound — whether we are launching young people into a boundless future or confronting the grand challenges of our time through undaunted research and scholarship. Ranked number 10 in the world in Shanghai Jiao Tong University rankings and educating more than 54,000 students annually, our students and faculty work together to turn ideas into impact and in the process transform lives and our world. For more about our impact on the world, every day.
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  • richardmitnick 5:36 pm on January 28, 2020 Permalink | Reply
    Tags: "Autism Diagnosis Test Needs Improvement, ASD-Autism Spectrum Disorder, Autism Diagnostic Observation Schedule (ADOS), Rutgers Researchers Say", , Study finds inconsistencies in a broadly used autism test., The researchers digitized the test by attaching wearable technology like an Apple Watch to two clinicians and 52 children who came in four times and took two different versions of the test., The results showed that switching clinicians may change a child’s scores and consequently influences the diagnosis.   

    From Rutgers University: “Autism Diagnosis Test Needs Improvement, Rutgers Researchers Say” 

    Rutgers smaller
    Our Great Seal.

    From Rutgers University

    January 27, 2020
    Megan Schumann
    848-445-1907
    MEGAN.SCHUMANN@rutgers.edu

    Study finds inconsistencies in a broadly used autism test.

    1
    Rutgers researchers have found that a test widely used to diagnose whether children have autism is less reliable than previously assumed.

    Rutgers researchers have found that a test widely used to diagnose whether children have autism is less reliable than previously assumed.

    The study is published in the journal Neural Computation.

    The standardized test, known as the Autism Diagnostic Observation Schedule (ADOS), assesses communication skills, social interaction and play for children who may have autism or other developmental disorders.

    The researchers digitized the test by attaching wearable technology, like an Apple Watch, to two clinicians and 52 children who came in four times and took two different versions of the test.

    When researchers looked at the scores of the entire cohort, they found they did not distribute normally – which could mean a chance of false positives inflating the prevalence of autism, among other implications.

    The results showed that switching clinicians may change a child’s scores and consequently influences the diagnosis. The researchers found similar results when they analyzed open-access data of 1,324 people ages 5 to 65, said Elizabeth Torres, associate professor of psychology in Rutgers’ School of Arts and Sciences, and director of The New Jersey Autism Center of Excellence.

    “The ADOS test informs and steers much of the science of autism, and it has done great work thus far,” said Torres, whose expertise has brought emerging computer science technology to autism. “However, social interactions are much too complex and fast to be captured by the naked eye, particularly when the grader is biased to look for specific signs and to expect specific behaviors.”

    The researchers suggest combining clinical observations with data from wearable biosensors, such as smartwatches, smartphones and other off-the-shelf technology.

    By doing so, they argue, researchers may make data collection less invasive, lower the rate of false positives by using empirically derived statistics rather than assumed models, shorten the time to diagnosis, and make diagnoses more reliable, and more objective for all clinicians.

    Torres said autism researchers should aim for tests that capture the accelerated rate of change of neurodevelopment to help develop treatments that slow down the aging of the nervous system.

    “Autism affects one out of 34 children in New Jersey,” she said. “Reliance on observational tests that do not tackle the neurological conditions of the child from an early age could be dangerous. Clinical tests score a child based on expected aspects of behaviors. These data are useful, but subtle, spontaneous aspects of natural behaviors, which are more variable and less predictable, remain hidden. These hidden aspects of behavior may hold important keys for personalized treatments, like protecting nerve cells against damage, or impairment, which could delay or altogether stop progression.”

    The study was co-authored by Richa Rai, a graduate student in psychology at Rutgers University, Sejal Mistry, a former Rutgers Biomathematics student now at the University of Utah Medical School, and Brenda Gupta from Montclair State University.

    See the full article here .


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    Please help promote STEM in your local schools.

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    rutgers-campus

    Rutgers, The State University of New Jersey, is a leading national research university and the state’s preeminent, comprehensive public institution of higher education. Rutgers is dedicated to teaching that meets the highest standards of excellence; to conducting research that breaks new ground; and to providing services, solutions, and clinical care that help individuals and the local, national, and global communities where they live.

    Founded in 1766, Rutgers teaches across the full educational spectrum: preschool to precollege; undergraduate to graduate; postdoctoral fellowships to residencies; and continuing education for professional and personal advancement.

    As a ’67 graduate of University college, second in my class, I am proud to be a member of

    Alpha Sigma Lamda, National Honor Society of non-tradional students.

     
  • richardmitnick 12:04 pm on January 22, 2020 Permalink | Reply
    Tags: ASD-Autism Spectrum Disorder, Caitlin Clements, , ,   

    From University of Pennsylvania: Women in STEM-“A Spectrum of Possibilities” Caitlin Clements 

    U Penn bloc

    From University of Pennsylvania

    January 16, 2020
    Karen Brooks

    A doctoral candidate in psychology, puts autism-related lore to the test.

    1
    Caitlin Clements, a doctoral candidate in psychology

    2
    U Pennsylvania OMNIA-All things Penn Arts and Sciences

    “Is this my fault?”

    It’s the question Caitlin Clements has heard more than any other since she began studying autism a decade ago. Currently completing a year-long clinical internship at SUNY Upstate Medical University, the Ph.D. candidate in psychology counsels families with children who have developmental or psychological disorders.

    “When I see parents going through the early diagnostic process for autism, so often, they ask me why this happened and what they did wrong,” Clements says. “While we know they are not to blame, there is so much we don’t know. I wish I could give them more concrete answers—that’s what motivates me to keep working.”

    Before beginning her undergraduate degree at Yale, Clements had only known one person with autism: a family friend’s son. The child’s behavior had seemed different for years, and she jumped at the opportunity to learn more about it by working in an autism-focused lab. Her commitment to exploring the condition hasn’t wavered since.

    Supervised by faculty advisor Robert Schultz—scientific director of the Center for Autism Research, a collaboration between Penn and Children’s Hospital of Philadelphia—Clements has studied the relationship between IQ and autism across patients of varying ages and abilities. Recently, she has examined whether common cognitive tests like the Differential Ability Scales-II (DAS-II) test, which were developed based on neurotypical children, accurately assess the intellectual capacities of autistic children.

    “When using the DAS-II with autistic kids, clinicians sometimes place a greater emphasis on nonverbal scores, thinking that maybe their verbal scores are not as meaningful because they often have lower language levels than expected for their age,” Clements says. “This seems like good intuition, but as clinicians, we have made these judgments without having real data to support them.”

    Clements accessed data from the 2,000 neurotypical children used in the development of the DAS-II as well as from a study applying the test to 1,200 children with autism. In comparing their verbal and nonverbal subtest scores, she discovered that the “rule of thumb” that a child with autism has stronger nonverbal than verbal skills is, in fact, a bit of medical lore.

    “It turns out that both verbal and nonverbal subtests work really well in autistic populations and capture the same things as in the normative sample. A higher nonverbal than verbal score barely predicts autism better than chance,” she says.

    The study revealed another unexpected finding: Performance patterns on the test’s spatial components differed significantly between children with and without autism. Those with the condition excelled at pattern construction—an exercise in which they copied a pattern using colored blocks—but struggled with recall of design, an exercise that involved remembering and reproducing abstract designs.

    “We are in the process of analyzing what these results mean and looking at whether there is a bias, and if that bias is an overprediction or underprediction of these kids’ abilities,” she explains.

    Although autism is her primary focus, Clements also maintains an interest in depression—a condition she studied in 2018 as a Fulbright Scholar at the Karolinska Institutet in Sweden. Working under psychiatrist Mikael Landén, she aimed to identify genetic causes for severe depression.

    “Like with autism, there are a lot of individual differences in clinical presentation among people with depression. A general label of ‘depression’ doesn’t capture these important differences, just like a general label of ‘autism’ doesn’t, either,” she says. “People with severe symptoms could have very different underlying biology than those with milder symptoms.”

    To ensure a sample of individuals with truly severe depression, Clements, Landén, and their team selected those who had received electroconvulsive therapy (ECT), a “last-ditch” treatment used only with patients who had not responded to any other therapies. They then performed a genome-wide association, an approach that involves scanning markers across many complete sets of DNA to pinpoint genetic variations associated with a particular disease—and detected a potential culprit on a region of one particular chromosome.

    “The landscape for the genetics of depression is no longer as bleak as it once was,” she notes. “What’s exciting about this paper’s approach is that a giant international consortium is now trying to do what we’ve done in Sweden all over the world, building up much larger samples of individuals who have received ECT to gain more traction in analyzing a more homogeneous subset. Identifying more severely affected subsets is a good direction for researchers studying autism to go, as well.”

    Clements defended her dissertation, “Phenotypic and genotypic heterogeneity of autism spectrum disorders,” last spring and will graduate when she finishes her internship in August. She is applying for postdoc positions in which she can continue to study the biological basis of autism and plans to pursue a career in academic research.

    “I like to see patients because it keeps me in touch with clinical issues,” she says, “but gaining knowledge about why a child has autism is cathartic for families, and my priority is to do research that helps answer these questions.”

    See the full article here .

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    Please help promote STEM in your local schools.

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    U Penn campus

    Academic life at Penn is unparalleled, with 100 countries and every U.S. state represented in one of the Ivy League’s most diverse student bodies. Consistently ranked among the top 10 universities in the country, Penn enrolls 10,000 undergraduate students and welcomes an additional 10,000 students to our world-renowned graduate and professional schools.

    Penn’s award-winning educators and scholars encourage students to pursue inquiry and discovery, follow their passions, and address the world’s most challenging problems through an interdisciplinary approach.

     
  • richardmitnick 12:55 pm on September 12, 2019 Permalink | Reply
    Tags: "Poor Motor Skills Predict Long-Term Language Impairments For Children with Autism, , ASD-Autism Spectrum Disorder, , Rutgers Study Finds",   

    From Rutgers University: “Poor Motor Skills Predict Long-Term Language Impairments For Children with Autism, Rutgers Study Finds” 

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    Our Great Seal.

    From Rutgers University

    September 10, 2019
    Megan Schumann
    MEGAN.SCHUMANN@rutgers.edu
    848-445-1907

    1
    Fine motor skills may be a strong predictor for identifying whether children with autism are at risk for long-term language disabilities, according to a Rutgers-led study. Shutterstock

    Fine motor skills – used for eating, writing and buttoning clothing – may be a strong predictor for identifying whether children with autism are at risk for long-term language disabilities, according to a Rutgers-led study.

    The study, in the Journal of Child Psychology and Psychiatry, highlights the association between fine motor skills and their later language development in young speech-delayed children with autism who, at approximately age three, are nonverbal or using primarily single words to communicate.

    In an American sample of language-delayed children with autism, researchers found that nearly half had extremely delayed fine motor skills. Of this group, 77.5 percent who had extremely delayed motor skills continued to have language disabilities in later childhood or young adulthood. By contrast, 69.6 percent of children who demonstrated less impaired fine motor skills overcame their language delays by late childhood or young adulthood.

    In a second study of Canadian children with autism, researchers found that those with extremely delayed fine motor skills made fewer gains in expressive language.

    “Language development is complex. Many interventions for young children with autism focus on language intervention or social skills,” said lead researcher Vanessa Bal, the Karmazin and Lillard Chair in Adult Autism at Rutgers University-New Brunswick’s Graduate School of Applied and Professional Psychology. “But our findings indicate it may be useful for clinicians and parents to assess fine motor skills and build opportunities for these skills to be further developed, in order to help with language development.”

    The researchers analyzed data from existing studies that used different standardized developmental tests to assess fine motor skills through tasks that require children to manipulate small objects, such as picking up Cheerios or stacking small blocks.

    The first analyses focused on 86 children with autism recruited to an American study from before their second birthday to age 19. The replication study was conducted using data from a Canadian study that followed 181 children with autism from two to four years of age, until age 10.

    The Rutgers-led researchers analyzed the American study and found the link between fine motor skills and later language ability. They replicated the findings in the Canadian study sample. Replication in independent samples, using different developmental tests of fine motor skills is a strength of this study and underscores the potential importance of the findings.

    The study was a collaboration between Dr. Bal’s Rutgers LifeSPAN ASD Lab, and researchers from University of California Los Angeles, and the Canadian Pathways Study.

    See the full article here .


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    Rutgers, The State University of New Jersey, is a leading national research university and the state’s preeminent, comprehensive public institution of higher education. Rutgers is dedicated to teaching that meets the highest standards of excellence; to conducting research that breaks new ground; and to providing services, solutions, and clinical care that help individuals and the local, national, and global communities where they live.

    Founded in 1766, Rutgers teaches across the full educational spectrum: preschool to precollege; undergraduate to graduate; postdoctoral fellowships to residencies; and continuing education for professional and personal advancement.

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  • richardmitnick 8:49 am on August 9, 2019 Permalink | Reply
    Tags: A UCLA-led research team has identified dozens of genes- including 16 new genes that increase the risk of autism spectrum disorder., , ASD-Autism Spectrum Disorder, “These genes are talking to each other and those interactions appear to be an important link to autism spectrum disorder.”, “We show a substantial difference between the types of mutations that occur in different types of families ., ”, , Families that have more than one affected child versus those having only one child with ASD., , Of the children in the study 960 have autism and 217 children do not. That enabled researchers to analyze the genetic differences between children with and without autism across different families., The families in the study are part of the Autism Genetic Resource Exchange- AGRE, The study further revealed several new biological pathways that had not previously been identified in studies of autism.,   

    From UCLA Newsroom: “Study identifies 69 genes that increase the risk for autism” 


    From UCLA Newsroom

    August 8, 2019
    Marrecca Fiore
    310-267-7095
    mfiore@mednet.ucla.edu

    1
    Dr. Daniel Geschwind. UCLA Health.

    UCLA-led team compared DNA of children with the disorder to that of their siblings and parents.

    A UCLA-led research team has identified dozens of genes, including 16 new genes, that increase the risk of autism spectrum disorder. The findings, published in the journal Cell, were based on a study of families with at least two children with autism.

    Researchers from UCLA, Stanford University and three other institutions used a technique called whole genome sequencing to map the DNA of 2,300 people from nearly 500 families. They found 69 genes that increase the risk for autism spectrum disorder, or ASD; 16 of those genes were not previously suspected to be associated with a risk for autism.

    Researchers also identified several hundred genes they suspect may increase the risk of autism based on their proximity to genes that were previously identified to carry an increased risk. The study further revealed several new biological pathways that had not previously been identified in studies of autism.

    The findings highlight the importance of learning how genetic variants or mutations — the differences that make each person’s genome unique — are passed from parents to children affected with autism, said the study’s co-lead author Elizabeth Ruzzo, a UCLA postdoctoral scholar. Former UCLA postdoctoral scholar Laura Pérez-Cano is the study’s other co-lead author.

    “When we look at parents of autistic children and compare them to individuals without autism, we find that those parents carry significantly more, rare and highly damaging gene variants,” Ruzzo said. “Interestingly, these variants are frequently passed from the parents to all of the affected children but none of the unaffected children, which tells us that they are significantly increasing the risk of autism.”

    Of the children in the study, 960 have autism and 217 children do not. That enabled researchers to analyze the genetic differences between children with and without autism across different families.

    “Studying families with multiple children affected with autism increased our ability to detect inherited mutations in autism spectrum disorder,” said Dr. Daniel Geschwind, a senior author of the study and the Gordon and Virginia MacDonald Distinguished Professor of Human Genetics, Neurology and Psychiatry at the David Geffen School of Medicine at UCLA.

    “We show a substantial difference between the types of mutations that occur in different types of families, such as those that have more than one affected child versus those having only one child with ASD,” said Geschwind, who also is director of the UCLA Center for Autism Research and Treatment and director of the Institute of Precision Health at UCLA.

    The research also found that the 16 genes newly determined to be associated with an increased risk for autism form a network with previously identified genes that are associated with a risk for autism spectrum disorder. The way they interact with one another further heightens the risk, said Dennis Wall, the study’s co-senior author, a Stanford University School of Medicine associate professor of pediatrics and of biomedical data science.

    “They associate with each other more tightly than we’d expect by chance,” he said. “These genes are talking to each other, and those interactions appear to be an important link to autism spectrum disorder.”

    The nearly 600 genes researchers suspect to carry an increased risk of autism were identified through “guilt by association,” meaning through their interactions with other genes that already had been shown to carry an increased autism risk, Ruzzo said. Although not all of those genes will be found to increase the risk for autism, the analysis indicated that future studies will provide support for many of these genes.

    The families in the study are part of the Autism Genetic Resource Exchange, or AGRE, which was developed nearly two decades ago by researchers and the National Institutes of Health in collaboration with Cure Autism Now, which is now a program of Autism Speaks.

    Autism is a spectrum of neurological disorders characterized by difficulties with communication and social interaction. Geschwind has been working to identify the genetic causes and biological mechanisms of the disorder for more than a decade, and in the late 1990s, he led the development of the AGRE resource used in the new study. In 2018, he and colleagues at UCLA received their second five-year grant from the NIH to further expand autism research by studying genetic causes of autism in African American families.

    See the full article here .


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    Please help promote STEM in your local schools.

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    For nearly 100 years, UCLA has been a pioneer, persevering through impossibility, turning the futile into the attainable.

    We doubt the critics, reject the status quo and see opportunity in dissatisfaction. Our campus, faculty and students are driven by optimism. It is not naïve; it is essential. And it has fueled every accomplishment, allowing us to redefine what’s possible, time after time.

    This can-do perspective has brought us 12 Nobel Prizes, 12 Rhodes Scholarships, more NCAA titles than any university and more Olympic medals than most nations. Our faculty and alumni helped create the Internet and pioneered reverse osmosis. And more than 100 companies have been created based on technology developed at UCLA.

     
  • richardmitnick 11:09 am on May 30, 2019 Permalink | Reply
    Tags: "‘I will feel actual rage.’ Unusual responses to kind touches could help explain autism traits", , ASD-Autism Spectrum Disorder, ,   

    From Science Magazine: “‘I will feel actual rage.’ Unusual responses to kind touches could help explain autism traits” 

    AAAS
    From Science Magazine

    May. 29, 2019
    George Musser

    1
    Cinyee Chiu and Edwin Tse/Spectrum

    Even the slightest touch can consume Kirsten Lindsmith’s attention. When someone shakes her hand or her cat snuggles up against her, for example, it becomes hard for her to think about anything else. “I’m taken out of the moment for however long the sensation lasts,” she says. Some everyday sensations, such as getting her hands wet, can feel like torture: “I usually compare it to the visceral, repulsive feeling you’d get plunging your hand into a pile of rotting garbage,” says the 27-year-old autistic writer.

    Stephanie Dehennin, an autistic illustrator who lives in Belgium, detests gentle touches but doesn’t mind firm hugs. “I will feel actual rage if someone strokes me or touches me very lightly,” she says. Dehennin seeks out deep pressure to relieve her stress. “I’ll sit between my bed and my nightstand, for example — squeezed between furniture.”

    Strong reactions to touch are remarkably widespread among people who have autism, despite the condition’s famed heterogeneity. “The touch thing is as close to universal as they come,” says Gavin Bollard, an autistic blogger who lives in Australia and writes about his and his autistic sons’ experiences. These responses are often described as a general hypersensitivity, but they are more complex than that: Sometimes autistic people crave touch; sometimes they cringe from it. For many people on the spectrum, these sensations are so intense that they take measures to shape their ‘touchscape.’ Some pile on heavy blankets at night for the extra weight; others cut off their clothing tags.

    The common thread may be an altered perception of ‘affective touch,’ a sense discovered in people only a few decades ago. ‘Discriminative touch’ tells us when something impinges on our skin, with what force and where; affective touch, by contrast, conveys nuanced social and emotional information. The kinds of touch that autistic people may find loathsome, such as a soft caress, are associated with this latter system.

    Research on affective touch is still nascent, but the idea that it is linked to autism is tantalizing, experts say. A growing number of studies indicate that affective touch is at least partly responsible for our ability to develop a concept of self, something long thought to differ in people with autism [Spectrum]. Even newer is the idea that an atypical sense of affective touch may be one of autism’s underlying causes.

    “Maybe this is actually getting at a biological marker that gets us a better understanding of the causes of autism and, at the very least, a very early detection of autism,” says Kevin Pelphrey, a neuroscientist at the University of Virginia in Charlottesville.

    A sixth sense

    Despite the many anecdotes about an altered sense of touch in autistic people, quantifying the differences has proved difficult. In some experiments, autistic people notice a light pressure on their skin that their typical peers are oblivious to. But others show less sensitivity than or no real difference from controls. “There’s all this clinical evidence around, but the actual empirical studies are confused,” says Carissa Cascio, associate professor of psychiatry and behavioral sciences at Vanderbilt University Medical Center in Nashville, Tennessee.

    One reason for this confusion is that not every study or clinical report distinguishes between affective and discriminative touch. Discriminative touch conveys signals about pressure, vibration and stretching of the skin. These signals shoot along thick ‘type A’ nerve fibers, or ‘afferents,’ at speeds of more than 200 miles per hour to the brain’s sensory regions. Affective touch signals, meanwhile, travel slowly via thinner ‘type C’ afferents and communicate pain, itch and temperature; the variety of type C nerve fibers that communicate touch — called C-tactile fibers — register in emotion centers in the brain.

    C-tactile fibers respond only to specific kinds of touch. Researchers use a specialized technique called ‘microneurography’ to find the fibers and measure their activity. The method involves sticking an acupuncture-like needle deep into the skin, typically near the elbow, and then feeding in electrical pulses. As the needle gets closer to a nerve, less current is needed to evoke a tingling sensation. Once the needle is within the nerve, it can begin measuring the nerve’s electrical activity. The system is set up to have nerves produce clicks or light drumrolls on a loudspeaker whenever they fire. The C-tactile fibers crackle loudest when a participant is stroked lightly, no faster than a few inches per second, and at 32 degrees Celsius — the same temperature as human skin. Because the signals propagate slowly, the sound is delayed by about a half a second.

    At first glance, these fibers seems pointless. They don’t help you hold a pencil or feel a vibrating phone. They are found only in skin that has hair — the face and the forearm, for instance — and not in fingertips, palms, soles or genitals, body parts we typically associate with touch. Yet studies show that they give physical contact its emotional timbre; they relay the warm feelings that can come with a friend’s caress, for example, or the icy shivers that can follow a brush with a stranger.

    In this way, the fibers serve as a mode of communication between people, a channel not of physical information but of intimacy. “These fibers are signaling something that isn’t really touch; it’s something we don’t have a name for,” says Håkan Olausson, professor of clinical neuroscience at Linköping University in Sweden, who co-discovered the fibers in people in the 1980s. (For lack of a better word, he still calls it touch.)

    Olausson and others owe much of what they have learned about affective touch to a woman known in the medical literature as ‘Patient G.L.’ In April 1979, this woman checked into a hospital in Montreal with Guillain-Barré syndrome, a rare autoimmune disorder that attacks muscle and sensory neurons. In her case, it had destroyed her type A nerve fibers but spared her type C’s. She was left with the tactile equivalent of ‘blindsight’: Although she no longer felt contact, motion or pressure against her skin, she could still have an emotional reaction to being touched. It was an early clue that these nerve fibers carry emotional freight.

    2
    Cinyee Chiu and Edwin Tse/Spectrum

    To confirm the idea, Olausson and his colleagues turned to brain imaging. In 2002, they scanned G.L. as they touched her skin. Their actions evoked no response [Nature Neuroscience] in her somatosensory cortex, which ordinarily receives input from type A fibers, but her emotion-processing posterior insula did react. She reported feeling a faint, hard-to-place, pleasant sensation. In recent years, her brain seems to have compensated for her lost sense of discriminative touch by repurposing her affective-touch system. “When we last met about a year ago, she said that she has started to feel touch sensations in daily life — for example, when she puts on her stockings,” Olausson says.

    His team has collected additional evidence linking type C nerve fibers to emotional communication by studying about 20 members of a community in remote northern Sweden. These individuals all share a congenital loss of these fibers — in a sense, the inverse of G.L.’s condition. In a study of five of the people, they showed no activity in the insula in response to skin stroking and rated the sensation as less pleasant [Brain] than controls did. In some ways, their experience of touch might resemble that of autistic people, although there is no evidence that autism is particularly prevalent in this community.

    Even when both touch systems are intact, social context can dampen or amplify our perception of affective touch. In a study published in February, researchers scanned the brains of 27 neurotypical adults. When a lab assistant stroked the participants’ forearms, social areas of their brains, such as the superior temporal gyrus, lit up with activity. When the participants stroked their own arms, those regions showed no change in activity — which is to be expected because the task is not social. What was unexpected was that the participants’ basic sensory-processing areas also stayed silent. In stroking their own arms, they had desensitized that part of their body to touch in general.

    In a companion study, the team also tested people’s touch sensitivity by poking their forearms with von Frey fibers — plastic hairs that deliver a calibrated force — while a lab assistant stroked their arms or the participants stroked a pillow or themselves. The pillow had no effect on the participants’ sensitivity to touch: They felt the von Frey fibers just as they would if they weren’t being stroked at all. By contrast, when a lab assistant stroked the participant — a social gesture — the researchers had to poke the participant’s arm harder with the von Frey fibers for the touch to be felt. They had to apply an even stronger force when the participants stroked their own arms. “Touching your own arm numbs this area,” says lead investigator Rebecca Boehme, a researcher also at Linköping. Together, these results suggest that the affective touch system is tuned to recognize human contact [PNAS] and to differentiate self from other.

    Sensing the self

    To many researchers, the affective touch system suggests a compelling mechanism at autism’s roots. Touch is one of the dominant modes of perception and social interaction in the earliest weeks and months of a baby’s life. “A whole lot of your world is coming to you through caregiver touch — there’s a whole lot of cuddling, cradling, rocking,” Cascio says. If babies’ perceptions of these touches are altered in some way, it could transform how they situate themselves in the world and learn to interact with others. Those changes, in turn, could account for autism’s hallmark social challenges.

    Most researchers interviewed for this article subscribe to some version of this idea but admit it is still tentative. “We really don’t have strong evidence for it yet,” Cascio says. What evidence they do have falls somewhere along a three-link chain of logic.

    The first link is the observation that affective touch seems crucial for delineating our sense of ‘self.’ To explore that idea, some researchers have turned to the ‘rubber-hand illusion,’ in which an experimenter strokes a participant’s hand and a stuffed rubber glove at the same time until the participant mistakes the fake hand for her own. In typical people, the illusion is strongest when the stroking speed and textures involved elicit the peak response of C-tactile fibers. “You make an almost unconscious-to-the-individual change, and that makes a big change in their perception,” says Aikaterini Fotopoulou, a cognitive neuroscientist at University College London.

    Yet another hint that affective touch is important to self-definition comes from people who have had a stroke and feel one of their arms is not their own. In a study of seven people who lost the ability to recognize their left arm, Fotopoulou and her colleagues stroked that arm to activate the participants’ C-tactile fibers. The participants then reported reconnecting with their ‘lost’ limbs. “They start saying things like, ‘Well, after you touched it, I said to my arm: Come, I welcome you back,’” Fotopoulou says.

    The second link is more theoretical: If affective touch can redraw a person’s boundaries such that they mistake a fake hand for their own, perhaps it is responsible for drawing those boundaries to begin with. This link in the chain holds that our entire sense of body ownership may be one grand rubber-hand illusion imparted from all that cuddling we got as babies. “I put my leg there, or my fingers there, and then there is a response. I say, ‘Oh, that’s me,’” says Anna Ciaunica, a philosopher of mind at University College London who works with Fotopoulou.

    The third link connects these two ideas to autism. Cascio and others have found that autistic people are less susceptible to the rubber-hand illusion than neurotypical people are, suggesting their sense of self is somehow less flexible. That rigidity might explain the strong response many of them have to touch. “If you have a very clear border of your own body, then of course everything else that touches you will bother you,” Boehme says. Many autistic people also say they relate their feelings about touch directly to their sense of self. Kirsten Lindsmith has written about this in her blog: “When I shake a person’s hand, I feel as though a tiny part of myself — my awareness, my consciousness, my identity — is commandeered by their touch, and I no longer feel fully autonomous.” Dehennin also says she experiences that sensation: “I often feel like I’m not ‘in’ my body; deep pressure helps that.”

    3
    Cinyee Chiu and Edwin Tse/Spectrum

    Several imaging studies also suggest that autistic people have an altered sense of affective touch. In 2012, for example, Cascio led a series of experiments in which a lab assistant stroked autistic and typical adults’ forearms with a soft cosmetics brush, bumpy burlap or scratchy plastic mesh. Both groups described each texture much in the same way, but brain imaging revealed that they processed the sensations differently [PubMed]: The autistic group showed more activity than controls in brain regions associated with discriminative touch and less in those associated with affective touch.

    Most interesting, Cascio says, was that burlap in particular lit up social brain regions in the controls, even though burlap has no obvious social significance. She interprets this activity as subconscious deliberation — that is, the burlap touch could be considered positive or negative depending on social cues. “We’re seeing processing in those regions that would make us think that they’re trying to figure out how pleasant or unpleasant it feels,” she says. The social brain areas of autistic participants, however, don’t seem to show this internal deliberation. Or if they do, as Cascio’s newer work suggests, they do so after a delay.

    In another experiment, autistic people and controls both said they liked the sensation of being stroked rhythmically on the arm or hand with a watercolor paintbrush. “A lot of the field would be like, ‘Well, that’s kind of a dead end; maybe touch isn’t affected in autism,’” says Pelphrey, one of the researchers. But brain scans again showed clear distinctions between the groups. Stroking the forearm, rich in type C afferents, lit up social brain areas in the controls, but stroking the palm, which contains predominantly type A nerve fibers, had no such effect. In autistic participants, location didn’t matter; their social brain activity remained at a constant level in between the extremes shown by the typical participants. “Individuals with autism showed the middle response for everything,” Pelphrey says.

    Autistic people also appear to process pain differently , reflecting possible differences in their type C nerve fibers. In 2017, Cascio’s lab affixed a small heating pad, about 1 inch in diameter, to the calves of autistic and neurotypical volunteers. They then brought the temperature to an agonizing 49 degrees Celsius for 15 seconds. (The pad was not hot enough to burn the skin.) Both groups rated the pain 7 out of 10. But once again brain imaging offered a nuanced picture. In brain areas that respond to pain, such as the anterior cingulate cortex, insula and thalamus, the reaction in the neurotypical people lasted 30 seconds, lingering after the heat was removed. In autistic people, it abated after only 10 seconds, even though heat was still being applied. “It really looks like, when you look at the data, that something’s turning the pain response off,” Cascio says.

    Connecting the dots

    What all this experimental evidence means is still unclear, apart from generally confirming that, in autistic people, something unusual goes on in type C nerve fiber activity and touch perception. Whatever differences exist appear to be present from early in life. Parents often recall that their autistic children, as babies, recoiled from contact and avoided being picked up. “Human beings respond to the act of being picked up either by fighting back or by becoming rigid in ways that actually help you to pick them up,” Pelphrey says. But babies who go on to be diagnosed with autism often do neither, which can make them feel curiously heavier than they are, he says.

    His team is investigating whether unusual touch sensitivity in infants can predict a later autism diagnosis. They are testing ‘baby siblings’ of children with autism, who are at an increased risk of being diagnosed with the condition. The researchers plan to record the babies’ response — at 3, 6, 9 and 12 months of age — to touch on their palms and forearms, looking for differences in their senses of discriminative and affective touch, respectively. “We can hopefully develop something that will serve as a screener,” Pelphrey says.

    Other researchers are working on more sophisticated approaches to study touch in older children and adults with autism. They have their work cut out for them. The emotional quality of touch is difficult to measure, in part because it depends on more than just physical stimulus. Type C nerves are not yet fully understood. And simply asking people how they feel can mask important features of touch perception.

    Researchers will also need to consider how differences in affective touch fit into the broader experience of being autistic. Layered on top of the raw sensations are cultural norms about touch, which vary and can make social situations fraught for people with the condition. A flinch can be read as a rebuff, a declined handshake as disinterest. Many autistic people say they learned as children to suppress their feelings about touch in order to conform to typical expectations — something that leaves them vulnerable to abuse. “‘No’ was trained out of us,” says Ashley Smith-Taylor, an autistic self-advocate and mother of four neurodiverse children.

    Also hanging over the field is an old theory known as the ‘refrigerator mother’ hypothesis. From the 1940s into the 1960s, psychologists attributed autism to parents who made no effort to connect with their children emotionally, including cuddling them. “There was this tendency to blame parents, and particularly mothers,” Cascio says. She and others stress that if autism does originate in the sense of touch, it arises from deep in the nervous system and is entirely unrelated to nurture. It may also begin in the womb. During the first and second trimester, the fetus is covered by ‘lanugo hair’ that may stimulate the type C nerve fibers in utero; at this stage of development, these fibers provide our first sensory input. “That input, according to my theory, is basically the process which is beginning to let that developing brain know it’s got a body,” says Francis McGlone, professor of neuroscience at Liverpool John Moores University in the United Kingdom.

    McGlone admits that there is no solid evidence that connects autism to a dearth of affective touch early in life, but he isn’t waiting for it, either. He is developing a device that could be placed into incubators to stimulate type C nerve fibers in preterm infants. “The C-tactile afferent is the Higgs boson of the social brain. It’s the missing particle that socializes the developing brain. It brings everything else together,” he says. His invention could be useful for many children — even if it turns out that affective touch has little to do with autism’s origins.

    See the full article here .


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  • richardmitnick 9:50 am on May 30, 2019 Permalink | Reply
    Tags: , ASD-Autism Spectrum Disorder, ,   

    From University of Washington: “UW, collaborating institutions awarded $9.5 million for detecting autism earlier in childhood” 

    U Washington

    From University of Washington

    May 29, 2019
    Kim Eckart

    1
    Research scientist Tanya St. John works with a baby at the University of Washington Autism Center.

    A multicenter research team that includes the University of Washington Autism Center has received a five-year, $9.5 million grant to determine whether brain imaging can help detect infants who are likely to go on to develop autism spectrum disorder. Led by Washington University and the University of North Carolina at Chapel Hill, the research network of eight institutions received the grant from the National Institutes of Health’s National Institute of Mental Health.

    The new grant supports the continued efforts of researchers in the Infant Brain Imaging Study, or IBIS, network. Scientists will scan the brains of 250 children who have an older sibling with autism, looking for differences that predict which high-risk children are more, and less, likely to develop the condition.

    “Our studies have identified brain alterations in high-risk infants at 6 months of age that can predict a later autism diagnosis,” said Dr. Stephen R. Dager, professor of radiology at the University of Washington School of Medicine and principal investigator at the UW. “Now we are going to work with a new group of families to confirm whether our initial findings can be replicated.”

    Infant siblings of children with autism have a 20 percent chance of developing autism spectrum disorder themselves – a much higher risk than children in the general population. Researchers believe that if brain scans can accurately identify which infants are at highest risk, then careful assessment over the first two years of life could detect behavioral symptoms as soon as they emerge. This would allow interventions to begin sooner and improve those children’s outcomes.

    IBIS researchers published initial findings in 2017 [PubMed], which showed that magnetic resonance imaging (MRI) correctly identified 80% of babies who went on to be diagnosed with autism at age 2. They also correctly predicted more than 90% of babies who subsequently did not receive that diagnosis.

    “These imaging findings are very exciting and, if replicated, can allow much earlier diagnosis of autism,” said Dager.

    The UW Autism Center, part of the Center on Human Development and Disability, has long studied the signs of autism and the effectiveness of intervention strategies, and has been involved with IBIS since its inception.

    “We have learned so much from the children and families in the IBIS studies. We understand much more about the way autism symptoms unfold in infants with autism risk, starting with subtle early sensory-motor signs and developing into social communication and repetitive behavior in the second year of life,” said Annette Estes, director of the UW Autism Center, research professor of speech and hearing sciences, and co-lead investigator of the IBIS study in Seattle. “These brain findings in the first year of life could be game-changers if the findings hold up. They could allow us to approach autism in a new way, before symptoms emerge.”

    As parents from around the country brought younger and younger children to be evaluated at the UW, the UW Autism Center established its Infant and Toddler Clinic in spring 2017. The clinic provides evaluations for infants and toddlers up to 24 months of age, along with psychologists and behavior analysts to create a treatment plan with clinic- and home-based activities — just as would happen with older children.

    “IBIS families told us how valuable it was to have assessments over the first years of life so they could be sure that any signs of autism would be caught as soon as possible,” said Tanya St. John, a clinical psychologist at the UW Autism Center. “It has been gratifying to bring these services to families in the community, including people who may not have a family history of autism but who just have questions about their infant’s development. Our team has been able to see these young children quickly and get their parents the information and support they need.”

    For the new study, babies will undergo MRI scans while asleep. Those tests will be performed when the infants are 6 and 12 months old, to analyze both the brain’s structure and its functional connections. Infants also will be evaluated for language development, repetitive behaviors, social responsiveness and other behaviors that may, in the future, help understand how autism unfolds in the first year of life.

    “Our goal is to improve outcomes for infants at highest risk,” said Estes. “Intervention that starts before children fall far behind in development, and perhaps before symptoms become clear, might prevent many problems faced by families today.”

    Along with the UW, Washington University and the University of North Carolina, other institutions involved are Children’s Hospital of Philadelphia, the University of Minnesota, New York University, the University of Alberta and McGill University. Families participating in the study must travel to the IBIS screening site nearest their hometowns. The imaging sites are located in Seattle, St. Louis, Philadelphia, Chapel Hill, N.C., and Minneapolis-St. Paul.

    To learn more about the IBIS study in Seattle, contact uwautism@uw.edu.

    See the full article here .


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    The University of Washington is one of the world’s preeminent public universities. Our impact on individuals, on our region, and on the world is profound — whether we are launching young people into a boundless future or confronting the grand challenges of our time through undaunted research and scholarship. Ranked number 10 in the world in Shanghai Jiao Tong University rankings and educating more than 54,000 students annually, our students and faculty work together to turn ideas into impact and in the process transform lives and our world. For more about our impact on the world, every day.
    So what defines us —the students, faculty and community members at the University of Washington? Above all, it’s our belief in possibility and our unshakable optimism. It’s a connection to others, both near and far. It’s a hunger that pushes us to tackle challenges and pursue progress. It’s the conviction that together we can create a world of good. Join us on the journey.

     
  • richardmitnick 9:06 pm on May 27, 2019 Permalink | Reply
    Tags: , ASD-Autism Spectrum Disorder, , DNA functions,   

    From COSMOS Magazine: “Autism linked to ‘junk’ DNA mutations” 

    Cosmos Magazine bloc

    From COSMOS Magazine

    28 May 2019
    Andrew Masterson

    1
    Almost all DNA is non-coding, but research shows it is certainly not ‘junk’. Credit Anthony Harvie/Getty Images

    Mutations in so-called “junk” DNA have been tied to the development of autism (ASD) in children who do not have parents or siblings with the condition.

    The research, published in the journal Nature Genetics, provides an important piece of information in the quest to understand ASD, but also has wider significance.

    “This is the first clear demonstration of non-inherited, non-coding mutations causing any complex human disease or disorder,” says lead researcher Olga Troyanskaya of the US Flatiron Institute’s Centre for Computational Biology.

    Less than 2% of human DNA codes for the proteins that enable the critical functions of metabolism. The remaining 98% used to be thought of as effectively ballast, characterised as makeweight “junk”.

    Today, the label is recognised as a misnomer, and has been largely replaced by the term “non-coding”. Research [NIH] has shown that at least some of it plays very important roles in regulating the activity of genes – switching them on and off, and variously enhancing or dampening protein-coding activity.

    Previous studies have tied about 30% of autism cases in families with no prior history of the condition – so-called “simplex” cases – to mutations in particular coding genes.

    Using a machine-learning approach, Troyanskaya and colleagues analysed the genomes of 1790 people, comprising simplex autism cases and their families. Their model was trained to predict how any given DNA sequence would affect gene expression.

    The analysis revealed that cases linked to mutations in non-coding DNA should be of the same magnitude as those tied to coding DNA changes.

    The approach enables the identification of particular targets within the non-coding DNA which can now be the subject of more intense and focussed research.

    A computational biologic approach to DNA function, the researchers say, opens up a broad range of possible avenues for the understanding of conditions driven by genetic function.

    “This enables a new perspective on the cause of not just autism, but many human diseases,” says co-author Jian Zhou.

    See the full article here .


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  • richardmitnick 1:29 pm on May 19, 2019 Permalink | Reply
    Tags: , ASD-Autism Spectrum Disorder, , RNA messages in the cell drive function, , Today there is no medical treatment for autism.   

    From The Conversation: “New autism research on single neurons suggests signaling problems in brain circuits” 

    Conversation
    From The Conversation

    1
    Artist impression of neurons communicating in the brain. whitehoune/Shutterstock.com

    May 17, 2019
    Dmitry Velmeshev

    Autism affects at least 2% of children in the United States – an estimated 1 in 59. This is challenging for both the patients and their parents or caregivers. What’s worse is that today there is no medical treatment for autism. That is in large part because we still don’t fully understand how autism develops and alters normal brain function.

    One of the main reasons it is hard to decipher the processes that cause the disease is that it is highly variable. So how do we understand how autism changes the brain?

    Using a new technology called single-nucleus RNA sequencing, we analyzed the chemistry inside specific brain cells from both healthy people and those with autism and identified dramatic differences that may cause this disease. These autism-specific differences could provide valuable new targets for drug development.

    I am a neuroscientist in the lab of Arnold Kreigstein, a researcher of human brain development at the University of California, San Francisco. Since I was a teenager, I have been fascinated by the human brain and computers and the similarities between the two. The computer works by directing a flow of information through interconnected electronic elements called transistors. Wiring together many of these small elements creates a complex machine capable of functions from processing a credit card payment to autopiloting a rocket ship. Though it is an oversimplification, the human brain is, in many respects, like a computer. It has connected cells called neurons that process and direct information flow – a process called synaptic transmission in which one neuron sends a signal to another.

    When I started doing science professionally, I realized that many diseases of the human brain are due to specific types of neurons malfunctioning, just like a transistor on a circuit board can malfunction either because it was not manufactured properly or due to wear and tear.

    RNA messages in the cell drive function

    Every cell in any living organism is made of the same types of biological molecules. Molecules called proteins create cellular structures, catalyze chemical reactions and perform other functions within the cell.

    Two related types of molecules – DNA and RNA – are made of sequences of just four basic elements and used by the cell to store information. DNA is used for hereditary long-term information storage; RNA is a short-lived message that signals how active a gene is and how much of a particular protein the cell needs to make. By counting the number of RNA molecules carrying the same message, researchers can get insights into the processes happening inside the cell.

    When it comes to the brain, scientists can measure RNA inside individual cells, identify the type of brain cell and and analyze the processes taking place inside it – for instance, synaptic transmission. By comparing RNA analyses of brain cells from healthy people not diagnosed with any brain disease with those done in patients with autism, researchers like myself can figure out which processes are different and in which cells.

    Until recently, however, simultaneously measuring all RNA molecules in a single cell was not possible. Researchers could perform these analyses only from a piece of brain tissue containing millions of different cells. This was complicated further because it was possible to collect these tissue samples only from patients who have already died.

    New tech pinpoints neurons affected in autism

    However, recent advances in technology allowed our team to measure RNA that is contained within the nucleus of a single brain cell. The nucleus of a cell contains the genome, as well as newly synthesized RNA molecules. This structure remains intact ever after the death of a cell and thus can be isolated from dead (also called postmortem) brain tissue.

    3
    Neurons in the upper (left) and deep layers of the human developing cortex. Chen & Kriegstein, 2015 Science/American Association for the Advancement of Science, CC BY-SA

    By analyzing single cellular nuclei from this postmortem brain of people with and without autism, we profiled the RNA within 100,000 single brain cells of many such individuals.

    Comparing RNA in specific types of brain cells between the individuals with and without autism, we found that some specific cell types are more altered than others in the disease.

    In particular, we found [Science]that certain neurons called upper-layer cortical neurons that exchange information between different regions of the cerebral cortex have an abnormal number of RNA-encoding proteins located at the synapse – the points of contacts between neurons where signals are transmitted from one nerve cell to another. These changes were detected in regions of the cortex vital for higher-order cognitive functions, such as social interactions.

    This suggests that synapses in these upper-layer neurons are malfunctioning, leading to changes in brain functions. In our study, we showed that upper-layer neurons had very different quantities of certain RNA compared to the same cells in healthy people. That was especially true in autism patients who suffered from the most severe symptoms, like not being able to speak.

    4
    New results suggest that the synapse formed by neurons in the upper layers of the cerebral cortex are not functioning correctly. CI Photos/Shutterstock.com

    Glial cells are also affected in autism

    In addition to neurons that are directly responsible for synaptic communication, we also saw changes in the RNA of other non-neuronal cells – called glia. Glia play important roles in regulating the behavior of neurons, including how they send and receive messages via the synapse. These may also play an important role in causing autism.

    So what do these findings mean for future medical treatment of autism?

    From these results, I and my colleagues understand that the same parts of the synaptic machinery which are critical for sending signals and transmitting information in the upper-layer neurons might be broken in many autism patients, leading to abnormal brain function.

    If we can repair these parts, or fine-tune neuronal function to a near-normal state, it might offer dramatic relief of symptoms for the patients. Studies are underway to deliver drugs and gene therapy to specific cell types in the brain, and many scientists including myself believe such approaches will be indispensable for future treatments of autism.

    See the full article here .

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    Our team of professional editors work with university and research institute experts to unlock their knowledge for use by the wider public.
    Access to independent, high quality, authenticated, explanatory journalism underpins a functioning democracy. Our aim is to promote better understanding of current affairs and complex issues. And hopefully allow for a better quality of public discourse and conversation.

     
  • richardmitnick 2:11 pm on May 2, 2019 Permalink | Reply
    Tags: , ASD-Autism Spectrum Disorder, , , Vasopressin may reduce social impairments in the developmental disorder   

    From Stanford University – Medicine: “Hormone reduces social impairment in kids with autism” 

    Stanford University Name
    From Stanford University – Medicine

    May 1, 2019

    Erin Digitale
    digitale@stanford.edu

    In a Stanford study of 30 children with autism, intranasal vasopressin improved social skills more than a placebo, suggesting that the hormone may treat core features of the disorder.

    2
    Opposite approaches to altering the activity of vasopressin in the brain improved some social deficits in people with autism.
    Drotyk Roman/shutterstock.com

    1
    A pilot study led by Antonio Hardan and Karen Parker found that social behavior in children with autism improved after they inhaled a hormone called vasopressin.
    Steve Fisch

    Social behavior improved in children with autism after they inhaled a hormone called vasopressin, a pilot study by researchers at the Stanford University School of Medicine has found. It is the first study to test intranasal vasopressin for any indication in children.

    Although small, the placebo-controlled study of 30 children provides early evidence that vasopressin may reduce social impairments in the developmental disorder, which affects 1 in 59 U.S. children. The findings were published online May 1 in Science.

    “Social deficits are one of the core features of autism and a challenging area for many kids with the disorder,” said the study’s lead author, Karen Parker, PhD, associate professor of psychiatry and behavioral sciences at Stanford. “Some of these kids want to socially connect but aren’t capable of doing so.”

    The other core features of autism are poor verbal communication skills and restricted, repetitive behaviors. No existing medications address any core features of the disorder.

    In the trial, parents’ and experts’ ratings of social behavior improved more in children treated with vasopressin than in those given a placebo. Vasopressin-treated children also experienced some reductions in anxiety and repetitive behaviors.

    “We saw this across multiple measures independently,” Parker said. “It is really exciting.”

    “We might finally have an agent that will target these core features that are very hard to treat,” said the study’s senior author, Antonio Hardan, MD, professor of psychiatry and behavioral sciences at Stanford. The researchers are now testing vasopressin in 100 additional children with autism to see if the pilot findings can be repeated.

    “Before getting too excited, I want us to replicate this, and more importantly I want others to replicate our findings,” added Hardan, who is also director of the Autism and Developmental Disabilities Clinic at Lucile Packard Children’s Hospital Stanford. Large trials are also needed to assure the drug’s safety.
    Sex-specific social hormones

    Vasopressin is a tiny protein hormone, nine amino acids long, manufactured in the hypothalamus. It differs by two amino acids from oxytocin, another hormone made in the same part of the brain.

    Although both hormones play roles in social behavior, there are sex differences in their activity. Parker’s early research in animal models showed that, in males, vasopressin influences pair-bonding and fathering behavior. Oxytocin regulates aspects of childbirth and certain maternal behaviors, such as milk letdown during nursing.

    Oxytocin has been tested as an autism treatment with mixed results; Parker and Hardan previously showed that among autistic children whose oxytocin levels were low to begin with, giving that hormone improved aspects of social behavior. However, many children with autism do not have low oxytocin levels.

    Vasopressin’s social effects in males made the researchers wonder if this hormone influences autism. The disorder is male-biased, with 4 or 5 males affected for every female.

    Parker and Hardan have previously shown that, compared with typically developing children, those with autism have lower vasopressin levels in their cerebrospinal fluid, which bathes the brain and spinal cord. Among children with autism, those with the lowest CSF vasopressin levels also have the lowest social functioning, the researchers have shown.

    Dosing with vasopressin

    The Stanford team recruited 30 children with autism, all of whom were 6 to 12 years old and had an IQ of at least 50. The participants were randomly assigned, in a double-blind fashion, to receive intranasal vasopressin or a placebo. Participants took daily doses of their assigned medication for four weeks.

    At the beginning and end of the trial, several measurements were used to assess autism symptoms. Participants’ parents completed questionnaires rating their children’s social abilities. In the lab, the researchers tested participants’ ability to recognize emotional states in images of people’s eyes or facial expressions. Children’s repetitive behaviors and anxiety levels were also measured. The researchers also completed physical and clinical chemistry measurements to evaluate the safety of the treatment.

    Children’s social abilities improved more after vasopressin than placebo, according to the parents’ and researchers’ observations, as did children’s performance on objective lab tests of social abilities. Vasopressin also reduced anxiety symptoms.

    The changes in social ability and anxiety were greatest among children whose vasopressin levels were highest at the beginning of the study, a finding that surprised the researchers, given that their prior work had showed the lowest social abilities in children with the lowest vasopressin levels.

    In addition, among children with the highest vasopressin at baseline, vasopressin treatment reduced restricted and repetitive behaviors. This finding did not extend to participants with lower baseline vasopressin.

    The findings will guide larger trials of vasopressin. “Identifying who responds and why is really important,” Parker said. Because autism exists on a spectrum, with some people more severely affected than others, treatments must be individualized, she said.

    If the findings of the pilot trial are replicated, it will also be important to validate the safety of the hormone in large populations and to understand which aspects of social behavior are most improved by vasopressin, Hardan added. “Is it motivation, affiliation, attachment? Ability to understand others’ mental states or read facial expressions or body language?” he said. “This has opened up a lot of possibilities for individuals with autism.”

    Other Stanford co-authors of the study are research scientist Ozge Oztan, PhD; clinical research coordinator Robin Libove; former life sciences researcher Noreen Mohsin; research scientist Debra Karhson, PhD; former assistant clinical research coordinator Raena Sumiyoshi; incoming medical resident Jacqueline Summers; Kyle Hinman, MD, clinical assistant professor of psychiatry and behavioral sciences; Kara Motonaga, MD, clinical associate professor of pediatrics; Jennifer Phillips, PhD, clinical associate professor of psychiatry and behavioral sciences; former postdoctoral scholar Dean Carson, PhD; Lawrence Fung, MD, PhD, clinical assistant professor of psychiatry and behavioral sciences; and Joseph Garner, DPhil, associate professor of comparative medicine.

    Parker, Hardan, Fung and Garner are members of the Stanford Maternal & Child Health Research Institute. Parker, Hardan and Garner are also members of Stanford Bio-X and the Wu Tsai Neurosciences Institute at Stanford. Garner is a faculty fellow of Stanford ChEM-H.

    The research was supported by the National Institutes of Health (grants R21MH100387, R21HD083629, R01HD091972, K08MH111750 and T32MH019908), Autism Speaks, a Bass Society Pediatric Fellowship, the Mosbacher Family Fund for Autism Research, the Teresa and Charles Michael Endowed Fund for Autism Research and Education, the Stanford Maternal & Child Health Research Institute and the Yani Calmidis Memorial Fund for Autism Research.

    See the full article here .


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