Autism Awareness
    Investigating The Many Different Types Of Autism
    By Kimberly Crandell | April 21st 2010 08:00 AM | 9 comments | Print | E-mail | Track Comments
    About Kimberly

    I'm a mother of three, with an aeronautical engineering degree.  Although it's been a while since I've done any aircraft

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    Anyone who has worked with children with autism knows that, based on symptoms alone, this disorder is comprised of several different types. Yet, surprisingly, no authoritative study exists to validate this supposition. That is about to change.

    For the first time ever, a long-term study of boys and girls with and without autism is being  conducted. Jam-packed with scientific evaluations of each participant that will provide data scientists can use for decades to come, this study is destined to determine once and for all if there are subtypes of autism, and, if so, exactly what those subtypes are.  This ambitious study is taking place at the UC Davis M.I.N.D. Institute.

    Named the Autism Phenome Project (“phenome” means “all observable characteristics”) it is the largest and most comprehensive assessment of children with autism ever attempted. It aims to distinguish among recognized subgroups, or phenotypes, of autism, linking them with distinct patterns of behavior and biological changes. Ideally, the findings will lead to targeted — and thus more effective — treatments specific to each child’s type of autism.

    “Some children have autism symptoms from birth, others not until their second birthday,” explains principal investigator David Amaral, who serves as the M.I.N.D. Institute’s research director. “Which ones have gastrointestinal problems or immune problems? Who is more likely to have seizures? At the moment, we don’t really have the big picture.”

    “This project is designed to gather sufficient information about a large enough group of kids to parse them into homogeneous, or similar, subtypes,” he adds. “At that point, researchers can explore the causes of each type of autism.”

    As co-principal investigator Sally Rogers puts it, “The M.I.N.D. Institute was created to bring scientists together who had expertise among them in all the aspects of autism so that we could
    look at the whole of autism in a single study, rather than just one part at a time. That’s what the Autism Phenome Project (APP) is all about: parents, children and researchers forming a team to tackle all of autism, at once.”



    Led by Amaral, a multi-disciplinary team of more than 50 M.I.N.D. Institute scientists began a pilot study in 2006 of 55 boys and girls aged 2 to 3.5 years, and their families. The project is ultimately projected to include 1,200 children. The mix will include 800 families with children with autism and 400 families with typically developing children, the latter as a control group.

    “It’s a numbers game, in a sense,” explains Amaral, a UC Davis professor of psychiatry and  behavioral sciences. “If, for example, there are 10 subtypes, then you’re bound to be more  certain about your results with 1,000 subjects than with just 100.”

    The participating children and their families are making an admirable commitment, as will the others who join this longitudinal study in the months to come: subjects are followed for three to eight years via approximately six UC Davis visits the first year and one to two visits in each of the subsequent years.

    That first year involves the most exhaustive evaluations, covering everything from medical exams, behavioral assessments and genetic analyses to brain structure imaging, brain function assessments and immune profiling.

    “It’s enormously gratifying for me to see how enthusiastic and excited the families are to  participate in this groundbreaking study,” says Susan Rumberg, the study’s family support liaison. “Whether they have children with autism or typically developing children, these families
    just want to help to find a cure. It’s really a noble goal.”

    Rumberg serves as a resource for APP families, her many duties including arranging lodging, securing childcare for subjects’ siblings, and meeting any other needs that participating families might have. Along with her co-workers, she’s the star of a series of videos available online at the study’s Web site (www.ucdmc.ucdavis.edu/mindinstitute/research/app/) designed to walk  parents through every step of their involvement with the study.

    “I really believe that researchers will be using the data from this study for many years to come,” she adds. “As just one example, every time we do a blood draw, we retain a portion of the blood and DNA in a repository so that this resource can live on for use by researchers in the future, allowing the scientific community to keep making new scientific discoveries.”

    Also available to researchers in years to come will be magnetic resonance imaging (MRI) scans of all the subjects’ brains, part of the subjects’ brain function assessments. “Few studies will have so many longitudinal MRIs on kids with autism,” says Amaral. “We’re committed to making these data—and all data acquired by the project—available to the world autism community as rapidly as possible.”

    Funding for the project’s approximately $1.2 million per year in expenses has come from a mix of philanthropy, the M.I.N.D. Institute, and, more recently, a portion of a National Institutes of  Health (NIH) grant to the Center for Genomic and Phenomic Studies in Autism at the University of Southern California, for which Amaral is co-director. Amaral and his team are submitting grant applications to the NIH for various aspects of the project; one application, for instance, covers the project’s brain imaging technologies alone. A network of government and philanthropic  grants, overlaid with a matrix of collaborations with research institutions around the country, is expected to cover project costs going forward.

    “The Autism Phenome Project will produce the integrated data needed to shorten the road to discovery of the causes, preventions and treatments of autism,” says Amaral. “Simply put, the
    results of this project will make the world a better place for our children and for generations to come after them.”

    The project is seeking subjects between the ages of 2 and 3.5 years old, both those with autism and those who are developing typically. 
    For details, visit http://www.ucdmc.ucdavis.edu/mindinstitute/research/app/

    Reprinted with permission from UC Davis M.I.N.D. Institute "Mind Matters"


    Friday: Authentic Inclusion and Autism

    If you're interested in reading additional articles on autism, ScientificBlogging's Autism Awareness page provides a listing of all the articles on our site that touch on the subject.

    Comments

    I am going to give you a rational question, because I respect what you have written. Really appreciate this in terms of quality. Thank you.

    What's the theory behind putting autistic kids with psychologists I am confused, because that should usually be an axis three diagnosis.

    Larry Arnold
    I was very critical of Amaral when he first announced this as I don't believe this is pure science uninfluenced by the intentions of the funders who are already convinced with regard to bio medical origins of autism. It must be very hard to be independent under such circumstances.

    The problem is the dangers of skewing the results by cherry picking the participants in the study.

    As I have said before, there are other ways of looking at autism besides the medical perspective and I much prefer those researchers who show us some respect, such as Morton Gernsbacher or even Uta Frith and Francesca Happe who regard autism not so much as deficit but different cognitive style.

    The Mind institute is one of those institutions researching autism with which I have a great many ethical concerns. MRI is not a benign investigation (for an autistic participant in particular) at all and there are considerable questions that could be asked about informed consent with the children in these investigations.
    How do you know he is cherry picking them?

    Elaborate.

    Larry Arnold
    You've put me on the spot there. I don't have the same information to hand that I did, when I first considered that as a possibility. I can recall David Amaral speaking at a conference a good few years ago now, when he announced the pilot to this research. It seemed to me at the time from his description of the methodology that it sounded like "cherry picking" and I framed a question on that basis at that time. To the best of my recollection my objection was that Amaral had decided the boundaries of what Autism was (from a very biomedical perspective) before he recruited the participants, in effect guaranteeing that the findings would also be bounded within those limits.

    If you define something over rigidly as possessing the characteristics of X + y + z it means that although the combination of P + q + z produce the same observable phenomenon or even x + y + z - w what you have effectively done is produce a self defining phenomenon that cannot admit any other description of itself no matter whether it exist or not.

    Anyway it was generally from the content of Amaral's speech and his attitude towards autism that it became very clear to me, which horses he was backing as it were.

    "Its a numbers game really, you are bound to be more certain from 1000 results than 100" But ... and this is the big but and the problem with reliability, if you make the same mistake 1000 times that you made 100, you will not have better results at all.

    A watch can be perfectly reliable, and still tell the wrong time if it has not been set right.

    It is likely from the way in which the call for participants is announced, given the particular sociological footprint of the Mind institutes "broadcasting" and  it's supporters that this will be a biased sample.

    There is more to autism than science alone there is a lot of politics going on too.
    My comment is as such comprised of two things:
    1) if was 1988 triadic theory of intelligence in Pshcyhologoy Today published. It was one thing to diagnose:
    inteligence was made of three equally valid forms of building a concliusion: anylitic, syntethic and combinatorial.
    2) This tells us, we have not yet made a cognition model which would rationally explain, and yet there we have docs.

    My comment is as such comprised of two things:
    1) if was 1988 triadic theory of intelligence in Pshcyhologoy Today published. It was one thing to diagnose:
    inteligence was made of three equally valid forms of building a concliusion: anylitic, syntethic and combinatorial.
    2) This tells us, we have not yet made a cognition model which would rationally explain, and yet there we have docs.

    My comment is as such comprised of two things:
    1) if was 1988 triadic theory of intelligence in Pshcyhologoy Today published. It was one thing to diagnose:
    inteligence was made of three equally valid forms of building a concliusion: anylitic, syntethic and combinatorial.
    2) This tells us, we have not yet made a cognition model which would rationally explain, and yet there we have docs.

    Laurence Arnold said "There is more to autism than science alone there is a lot of politics going on too."

    When Mr. Arnold accuses someone of injecting autism politics into science he knows whereof he speaks. Mr. Arnold subscribes to a version of Neurodiversity ideology and routinely injects his faith into discussions of autism and science on the world wide web.

    Larry Arnold
    Thus speaks someone who never tires of redefining autism to suit his particular prejudices against those of us who are capable of engaging the political world to advocate our rights. I thought there might be one part of the internet that was free of Mr Doherty's straw men, but I was wrong. Mr Doherty is the perfect example of one who employs a political description of autism which consists only of what he decides fits.