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369414-82 Autism and Mental Retardation Connected With APC Protein

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  • schafer
    Sep 2, 2010

       
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      RESEARCH

      Autism and Mental Retardation Connected With APC Protein


      xrl.in/665i
                           Science Photo Library/Corbis

            ScienceDaily — A clue to the causes of autism and mental retardation lies in the synapse, the tiny intercellular junction that rapidly transfers information from one neuron to the next. According to neuroscientists at Tufts University School of Medicine, with students from the Sackler School of Graduate Biomedical Sciences at Tufts, a protein called APC (adenomatous polyposis coli) plays a key role in synapse maturation, and APC dysfunction prevents the synapse function required for typical learning and memory.
            The findings are published in the August 18 issue of The Journal of Neuroscience.
            "Both sides of the synapse are finely tuned for efficient transmission; an imbalance on either side can negatively impact function, resulting in cognitive deficits. Our study reveals that APC forms a key protein complex in the postsynaptic neuron that also provides signals to direct synapse maturation in the presynaptic neuron, ensuring that the two sides of the synapse mature in concert to provide optimal function," said senior author Michele H. Jacob, PhD, professor in the department of neuroscience at Tufts University School of Medicine. Jacob is also a member of the cell, molecular and developmental biology; cellular and molecular physiology; and neuroscience program faculties at the Sackler School of Graduate Biomedical Sciences at Tufts.
            In the in vivo study, the team blocked APC function and found that synaptic levels of the cell adhesion proteins neuroligin and neurexin dropped considerably. Without normal levels of these proteins, synapses were less mature both structurally and functionally. Mutations in the genes for neuroligin and neurexin are associated with autism in humans, but until now, little was known about the mechanisms responsible for localizing these proteins at the synapse. "Our laboratory study is the first to show that APC is needed to recruit neuroligin and neurexin to the synapse. This finding provides new insights into the mechanisms required for proper synapse function as well as molecular changes at the synapse that likely contribute to autistic behaviors and learning deficits in people with APC loss of function gene mutations," said Jacob.
            "Our study also sheds light on a poorly-understood but essential process, the cross-talk that occurs between presynaptic and postsynaptic neurons. When we perturbed APC function on the postsynaptic side, we saw changes on both sides of the synapse, indicating that APC organizes a protein complex that communicates against the normal flow of traffic," said first author Madelaine Rosenberg, PhD, an affiliate of the department of neuroscience at TUSM.
            The research team's next step is to examine the behavioral and cognitive changes that occur when APC is deleted in neurons of the mammalian brain. They have developed a new mouse model that will allow them to investigate how the loss of APC function leads to synaptic changes and impaired learning and memory.
            Additional authors are Fang Yang, PhD, a research associate in the department of medicine at TUSM; Jesse Mohn, a PhD candidate in the cell, molecular, and developmental biology program at Sackler and member of Jacob's lab; and Elizabeth Storer, a PhD candidate in the neuroscience program at Sackler and member of Jacob's lab.
            This study was funded by the National Institute of Neurological Disorders and Stroke (NINDS), part of the National Institutes of Health, and the Tufts Center for Neuroscience Research. The Tufts Center for Neuroscience Research, itself, is supported by NINDS and by Tufts University School of Medicine and Tufts Medical Center.





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      • • •

      Language as a Window Into Sociability

      xrl.in/662a

            ScienceDaily — People with Williams syndrome-known for their indiscriminate friendliness and ease with strangers-process spoken language differently from people with autism spectrum disorders-characterized by social withdrawal and isolation-found researchers at the Salk Institute for Biological Studies.
            Their findings, to be published in a forthcoming issue of Social Cognitive and Affective Neuroscience, will help to generate more specific hypotheses regarding language perception and processing in both Williams syndrome and autism spectrum disorders, as well as the core mechanisms involved in the development of communication and social skills.
            "Spoken language is probably the most important form of social interaction between people and, maybe not surprisingly, we found that the way the brain processes language mirrors the contrasting social phenotypes of Williams syndrome and autism spectrum disorders," says lead author Inna Fishman, Ph.D., a neuropsychologist in the Laboratory of Cognitive Neuroscience at the Salk, who conceived the study together with Debra Mills, Ph.D., currently a reader at Bangor University in UK.
            Autism spectrum disorders and Williams syndrome are both neurodevelopmental disorders but their manifestations couldn't be more different: While autistic individuals live in a world where objects make much more sense than people do, people with Williams syndrome are social butterflies who bask in other people's attention.
            Despite myriad health problems, generally low IQs and severe spatial problems, people with Williams syndrome are irresistibly drawn to strangers, look intently at people's faces, remember names and faces with ease, and are colorful and skillful storytellers.
            "The discrepancy between their language ability and IQ is startling," says co-author Ursula Bellugi, professor and director of the Laboratory of Cognitive Neuroscience at the Salk Institute, who has been studying the behavioral aspects of Williams syndrome for more than 20 years. "Children with Williams syndrome have elaborate and rich vocabularies and use very descriptive, affect-rich expressive language, which makes their speech very engaging."
            In contrast, many people with autism struggle to learn and use language effectively, especially when talking to other people. Chit-chat and gossip, the social glue that binds people together, mean nothing to them. Although there is considerable variation in linguistic ability-from the absence of functional speech to near normal language skills-deficits in semantic processing, especially interpreting language in context, are common across the whole spectrum of autistic disorders, including Asperger syndrome.
            "It is this divide in language skills and use, which mirrors the opposite social profiles, that led us to explore how brains of individuals with Williams syndrome and autistic spectrum disorders process language," says Fishman.
            For their study, she and her colleagues compared brain response patterns linked to language processing in individuals with Williams syndrome, autism spectrum disorders and healthy controls. They focused on the so-called N400, a distinct pattern of electrical brain activity that can be measured by electrodes placed on the scalp. Known as ERP or event-related potential, the N400 is part of the normal brain response to words and other meaningful or potentially meaningful stimuli and peaks about 400 milliseconds after the stimulus.
            When presented with a typical sentence that finished with an odd ending ("I take my coffee with sugar and shoes"), individuals with Williams syndrome exhibited an abnormally large N400 response indicating that they are particularly sensitive and attuned to semantic aspects of language. In contrast, individuals with ASD did not show this negativity, suggesting that the inability to integrate lexical information into the ongoing context may underlie their communicative and language impairments. Healthy people fell between those two extremes.
      + Read more: xrl.in/662a
            
      • • •

      Carnegie Mellon Joins NSF Research Consortium To Develop Tools For Analyzing Autism, Other Behaviors

      xrl.in/663u

            Researchers in the School of Computer Science at Carnegie Mellon University will join a five-year, $10 million initiative funded by the National Science Foundation (NSF) to create novel tools for evaluating social interactions and other behaviors that can be used in diagnosing or treating behavioral disorders such as autism.
            The Computational Behavioral Science Project, part of the Expeditions in Computing Program of the NSF's Directorate for Computer and Information Science and Engineering (CISE), includes collaborators from the University of Illinois at Urbana-Champaign (UIUC), the University of Southern California and the Massachusetts Institute of Technology, with the Georgia Institute of Technology serving as the lead institution.
            "Using technologies such as computer vision and machine learning programs, we will develop new methods for gathering clues about a child's behavior that could lead to a diagnosis of autism at an early age, when therapy is most effective," said Anind Dey, associate professor in Carnegie Mellon's Human-Computer Interaction Institute. "Some of this information can be collected in clinics, but we hope some can be gleaned from as-yet untapped sources, such as the home videos that parents make all the time."
            Takeo Kanade, the U.A. and Helen Whitaker University Professor of Robotics and Computer Science, will lead an effort at Carnegie Mellon using computer vision to automatically analyze videos, amateur or otherwise, for early signs of autistic behavior, such as the rocking, clapping and other repetitive stereotypical behaviors known collectively as stimming. Eye gaze, facial expressions and body posture are additional visual aspects of social engagement that could be analyzed.
            "We aim at developing a new suite of technologies for imaging and understanding human behaviors, or behavior imaging," Kanade said. "Just as medical imaging revolutionalized medicine and science for the body and its actions, behavior imaging will revolutionalize medicine and science for the mind and its activities."
            Other collaborators in the project will develop methods for analyzing speech and will develop wearable sensors and toys-as-sensors that can further enhance data gathering.
            Meanwhile, Dey will work with colleagues in human-computer interaction at Georgia Tech and UIUC to develop methods for making sense of the data being generated by these new tools. "Educators, family members and clinicians all have different needs and interests and will want to have this data interpreted in a way that makes sense to them," Dey said.
            Outreach activities will include ongoing collaborations with the Center for Excellence in Autism Research at the University of Pittsburgh, as well as major autism research centers in Atlanta, Boston, Urbana-Champaign, Ill., and Los Angeles.
            Autism, which affects one out of every 110 children in the United States, represents a particularly compelling need for new methods of gathering behavioral data. But the long-term goal of the NSF-sponsored project is to develop a new discipline of computational behavioral science, which will draw equally from computer science and psychology to transform the study of human behavior.
            The technologies being developed for the project will make it possible to automatically measure behavior over a long period of time for large numbers of individuals in a wide range of settings. Many disciplines, such as education, advertising and customer relations, could benefit from a more objective data-driven approach to behavioral assessment.
            "There is a great deal of creativity in the computer science research community," said Deborah Crawford, acting assistant director for CISE at the NSF. "Our intentions with the Expeditions in Computing Program is to stimulate and use that creativity to expand the possibilities of computing," she said. "The researchers and collaborators we're supporting with these awards will also be exploring new computational approaches to some of the most vexing problems we face in science and the broader world."
            The Expeditions in Computing Program include some of the largest single investments made by the directorate and the NSF in basic computer science research. Carnegie Mellon is the lead institution in an Expedition grant issued last year on Computational Modeling and Analysis of Complex Systems, made possible with stimulus money from the American Recovery and Reinvestment Act (ARRA).
            
      • • •




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      PEOPLE

      Autism Gives Woman An 'Alien View' Of Social Brains


            By Jon Hamilton, NPR  xrl.in/665t

         Lisa Daxer is a biomedical engineering major at Wright State University in Dayton, Ohio. She says her autism has made her feel like an outsider but has also helped her become something of an expert on the social behavior of people she calls "neurotypicals." Skip Peterson for NPR

             It takes a smart brain to invent a spaceship. But putting one in orbit takes a brain with extraordinary social skills.
            That's because getting from concept to launchpad takes more than technology — it takes thousands of people agreeing on a common goal and working together to accomplish it.
            Humans have succeeded in part because we evolved a brain with a remarkable capacity for this type of complex social interaction. We automatically respond to social cues and facial expressions.  We can look at the world from another person's point of view. We are predisposed to cooperate.
            But all these things are so much a part of us, they're easy to take for granted.
            Unless you have autism, like Lisa Daxer.
            Daxer, 27, is a biomedical engineering major at Wright State University in Dayton, Ohio. And for her, things like reading faces and understanding what's on another person's mind are a struggle.
            When Daxer was in elementary school, it became clear that although she was better than her classmates at reading and math, they were better at social interactions. "I realized that they had friends and I didn't," Daxer says.
            Autism has made Daxer feel like an outsider, even an alien. "I have a weird brain," she says.
            But it's also helped her become something of an expert on the social behavior of people she calls "neurotypical."
            Daxer records her observations about neurotypicals in a blog called Reports From a Resident Alien.
            People like Daxer have taught scientists a lot about how typical humans interact socially, says Simon Baron-Cohen, a professor of developmental psychopathology at the University of Cambridge in the U.K.
            "We didn't really focus on how complex social development is until people with autism pointed out to us that this is something that doesn't always just develop naturally," Baron-Cohen says.
            Most children quickly figure out the importance of making eye contact, how to read facial expressions and social cues, and how to fit into a group.
            The Social Behavior Of 'Neurotypicals' But Daxer says these things are still very difficult for her. So she has become something of an amateur anthropologist, studying the social behavior of the people around her, the people she calls neurotypicals.
            One of the first things she noticed on campus was that students tend to "clump."
            "By default, they socialize," she says. That's true whether they're in a coffee shop, a library or even the anatomy lab, where Daxer once watched a group of young women gossiping as they dissected human hearts.
            "You have to actually interfere to stop neurotypicals from socializing," she says.
            This compulsion to socialize is no accident, Baron-Cohen says. "Amongst primates, particularly social primates, it is important to stay within the group," he says. "If we took an evolutionary perspective, that would be for physical survival. A member who becomes separated from the group is at increased risk of predators, to put it bluntly."
            So the humans who survived were predisposed to have what you might call a "social brain."
            It's still with us. Think fraternities, or Facebook.
            And if you want to be part of a group, you must constantly monitor your status with other members, Baron-Cohen says.
            "You're picking up cues about what they might find acceptable or interesting, or unacceptable," he says. "Picking up those cues very early could mean the difference between inclusion and exclusion. If you've done something that might offend somebody or upset somebody, it's good to notice that quickly, so you can fix it."
            Before they defriend you.
      + Read more: xrl.in/665t

      • • •

      No Criminal Charges Expected In Case Of Missing Missouri Teen

      xrl.in/

            Springfield authorities don’t expect to level charges against anyone after Monday’s recovery of a Nixa teenager missing since Sunday evening.
            Kendriana Bass, 16, who has autism and other special needs, had been missing from the Library Center. Her mother was attending a meeting at the library and called police when she couldn't find her daughter, who had been in another part of the library.
            Bass was found on a City Utilities bus Monday morning after driver Shawn Dlouhy recognized her description from radio news broadcast.
            She had been traveling with a white male through multiple stops in the bus route, but Lt. David Millsap said there was no evidence the male enticed Bass to come with him or had hurt her in any way.
            Millsap said officers had been told—based on interviews with Bass and the man—that Bass had approached the man asking about riding a bus and that the two had struck up a friendship.
            He said Bass did not seem to have been lured from the Library Center or that she was a target in any way.
            “There’s nothing illegal here,” Millsap said.
            He said the friendship might seem odd, especially since the two walked to various locations in the city overnight, but that the friendship was ultimately innocent.
            
      • • •

      Police Jump In Red River To Rescue Boy


            Global News xrl.in/665g


            A child was pulled to safety from the Red River in Winnipeg Tuesday morning, by fast-thinking water taxi crews and a police officer who jumped to the rescue into the fast-flowing water.
            The drama began shortly before 11:00 AM local time when the boy, who sources tell Global News is autistic, wandered away from his caregiver during an outing on the river walk at the Forks tourist area near downtown. The boy, described as about 11 years old, jumped into the river and was quickly carried down stream by the powerful current.
            Staff from the Splash Dash water taxi saw it happen and threw a flotation device into the water, but the boy would not grab onto it. Within moments water taxi crews and passersby jumped into two of the small vessels and followed the boy down the river, extending poles in the hopes he would grab on and allow himself to be hauled aboard, but he would not.
            By that point, police and fire crews had been alerted; one of the water taxis sped to shore north of the Provencher bridge and took some police officers on board, while the other vessel kept watch on the child in the water. The police officers were carried to the scene and one of them, along with another unidentified man, jumped into the water to pull the boy on board. The water taxi returned to the Forks where paramedics were standing by to treat the boy, who appeared tired and shaken but otherwise unhurt.

      • • •

      PUBLIC HEALTH

      BPA-Free Baby Bottles in California


            By Julio Cruz  tinyurl.com/2wdqun8

                    Photo Credit: Babble Good news regarding our government doing something about being more sustainable.

            The state Assembly passed the Toxin-Free Toddlers and Babies Act, commonly known as SB 797, on Thursday, July 1, banning the use of BPA in baby bottles, which are use for food and formula.
            It’s a step forward no matter what, not only to start using less plastic, or using less to zero harmful chemicals, but to think of a healthier environment as a whole.
            This bill also ensures a healthier lifestyle. The U.S. Food and Drug Administration (FDA) saw that the “artificial hormone that often is used in shatter-proof plastic baby bottles, sippy cups and linings of cans, including those containing baby formulas” is actually harmful, especially to children.
            The FDA called for more studies due to BPA being linked to asthma, autism, breast cancer, hyperactivity and infertility.
            Some parents are switching to glass bottles, though it could be inconvenient to travel with glass containers, but the least that can be done is to consider BPA-free bottles.
            SB 797 was written by Sen. Fran Pavley (D-Agoura Hills), and introduced in early 2009. It will return to the Senate for reconciliation vote in August, and then it could be moved to Gov. Schwarzenegger for his signature.
            Hopefully Gov. Schwarzenegger signs the bill so manufacturers of infant formula and baby bottles would discontinue the use of BPA by January 2012.

      • • •

      EDUCATION

      Records Show 3 Iowa Schools
      Broke Restraint Rules


      xrl.in/665n

            AP ― New state rules that limit using physical force to discipline unruly students have been broken by teachers in at least three Iowa school districts, according to state education records.
            The Iowa State Board of Education enacted rules in 2008 limiting how and when teachers could use "time-out rooms" for students. The rules allow teachers to hold down or confine students who are a threat to themselves or others, but physical force and time-out rooms cannot be used as punishment. Board members also banned risky methods of restraint, such as choke holds.
            Citing state records, The Des Moines Register on Tuesday reported three instances of Iowa school districts breaking the rules. The records show that the children in each case were mentally disabled, and Iowa Department of Education officials ordered staff training in all three cases.
            Education department officials refused to provide copies of complaints against school districts, but the department's rulings are made public, the newspaper reported.
            Those rulings indicate that a substitute teacher in a small school district dragged a boy across a carpeted floor to a time-out area in the boy's classroom. Education department officials refused to identify the district, which "was so small that anybody in that community would know which child was being referred to," said Thomas Mayes, an Iowa Department of Education attorney.
            A Council Bluffs Thomas Jefferson High School teacher used physical force to punish a disruptive student, Mayes said. The education department's ruling excluded the teacher's name and details of the offense, which Mayes described as "abusive."
            The rulings also show that a teacher in Creston strapped a 14-year-old mentally disabled boy into a chair with a seat belt to control him during the 2009-10 school year when his two teacher aides were absent. The district also failed to find a substitute teacher when one of his two required teacher aides was chronically absent because of an illness, a violation of the boy's mandatory special education plan.
      + Read more: xrl.in/665n

      • • •

      COMMENTARY

      Insurance Lobbyists Drafted Controversial NY Autism Insurance Bill
       

      By John Gilmore on ageofautism blog  xrl.in/662u  

            In an extraordinary article letter published earlier this week in the Scarsdale Patch, Alison Singer, president of the Autism Science Foundation, confirmed that a controversial autism insurance bill in New York, S7000B/A1037A, currently awaiting signature or veto by Governor David Paterson was indeed drafted by insurance and pharmaceutical lobbyists Mannatt, Phelps and Phillips who are representing Autism Speaks' lobbying efforts in New York.
              See Scarsdale Patch article xrl.in/662v Despite the fact that Singer resigned from Autism Speaks and has gone into competition with them, she seems to suggest in her letter that the autism community should follow Autism Speaks’ leadership on insurance reforms. In her letter, Singer suggests that it is a positive thing that “The law firm that wrote the bill was hired by Autism Speaks."
              Say what? Singer’s extraordinary statements contradicts assertions made by staffers in the offices of New York State Senator Neil Breslin, sponsor of the bill in the New York Senate and Chair of the Senate Insurance Committee, and staffers for Joseph Morelle, sponsor of the bill in the New York Assembly, and Chair of the Assembly Insurance Committee, who have repeatedly asserted that they drafted the bill.
              Mannatt Phelps and Phillips is part of a group of firms that represent more than 150 insurance companies including Aetna and Blue Cross Blue Shield of California, and drug giants Merck, Pfizer among others, and also represents Autism Speaks in many of their state-level autism insurance lobby activities.  See www.manatt.com   Singer also attacked Westchester County Legislator and New York Assembly Candidate Tom Abinanti for criticizing S7000B/A10372A. Abinanti is the father of a son diagnosed with an autism spectrum disorder, and has been working for autism health insurance reform for years.
            See www.abinanti.com
            Abinanti has been a vocal critique of S7000B/A10372A but has worked to pass another bill, A6888 which has been endorsed by the vast majority of autism organizations in New York, including the Autism Society of America, SAFEMINDS, Autism Action Network, National Autism Association NY Metro Chapter, and the Foundation for Autism Information and Research among many others.
            Abinanti has argued that the insurance company bill would partially repeal non-discrimination law passed in 2006, and unlike other state legislation does not specifically identify any therapies that would be covered, it requires autism treatment to satisfy efficacy requirements that apply to no other health disorder under New York law and are the toughest of any law passed in any state, and the bill would prevent local governments from recovering some costs form insurers allowed under current law.
      + Read more: xrl.in/662u

            Note: The opinions expressed in COMMENTARY are those of the author and do not necessarily represent the views of the Schafer Autism Report.


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        In This Issue:








































      RESEARCH
      Autism and Mental Retardation Connected With APC Protein

      Language as a Window Into Sociability

      Carnegie Mellon Joins NSF Research Consortium To Develop Tools For Analyzing Autism, Other Behaviors

      PEOPLE
      Autism Gives Woman An 'Alien View' Of Social Brains

      No Criminal Charges Expected In Case Of Missing Missouri Teen

      Police Jump In Red River To Rescue Boy

      PUBLIC HEALTH
      BPA-free baby bottles in California

      EDUCATION
      Records Show 3 Iowa Schools Broke Restraint Rules

      COMMENTARY
      Insurance Lobbyists Drafted Controversial NY Autism Insurance Bill 



         







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