Home > Science > It’s Here! Announcing 2011’s Top Ten Advances Autism Research

It’s Here! Announcing 2011’s Top Ten Advances Autism Research

Every year, Autism Speaks documents progress toward its mission to discover the causes and best treatments for autism spectrum disorders (ASD) and identifies the most important autism research achievements of the year. Our “Top Ten” list for 2011 includes discoveries on how frequently autism recurs in families and the extent to which “environmental,” or non-genetic influences, increase the risk of autism.  All of the research described in this list will profoundly shape the future of autism research in 2012 and beyond. Some of these remarkable findings are already delivering real-world benefits to individuals and families struggling with autism.

“Not only has the research community continued to make significant progress towards effective treatments, 2011 offered some game-changing discoveries that help us understand underlying causes of ASD,” says our Chief Science Officer Geraldine Dawson, Ph.D. “Some of these discoveries will have direct and immediate impact on quality of life of people with autism.”

Our Top Ten list comes about through the recommendations of our science leadership and the members of our scientific advisory committee. It reflects the exponential rate of discovery we’re now seeing in autism research—progress made possible by the joint commitment of government health agencies and private organizations such as Autism Speaks. In other words, made possible by YOU—our families, donors and supporters.  We thank you for your commitment to research, both in terms of your financial donations and your participation in research.

To read about the major autism research discoveries of the past year, please see our Top Ten Autism Research Advancements of 2011.

Table of Contents

(Order does not imply relative importance.)

More than Just Genes…
Population Screening Reveals Dramatically Higher Autism Rates…
Baby Siblings at Risk…
De Novo Genetic Changes Provide New Clues for Autism…
Different Forms of Autism Share Striking Brain Similarities…
Prenatal Vitamins Before and After Conception May Decrease Autism Risk…
Gene Knockout Mouse May Offer Leap Forward in Autism Animal Models…
Tweaking Electrical Activity in the Brain Impairs & Restores Mouse Social Behaviors…
More Evidence Linking Immune System to Some Forms of Autism…
Earlier Autism Screening Shows Promise…

  1. ML
    December 20, 2011 at 9:54 am

    Perhaps those are the top 10 advances in autism research for the psiquiatric- genetic paradigmatic dogma. None of them useful to improve my son´s life´s quality or our familiy´s

    The real world top 10 advances in autism research useful for my son, published this year ( and applied in our anecdotic evidence) are completely different.

  2. Sarah
    December 20, 2011 at 10:38 am

    :)

  3. December 20, 2011 at 7:56 pm

    Where is the research on language development, brain systems that enable detection of words and syllables, and how these brain systems may be impaired by all of autism’s many etiologies? For me the most significant research reports this year were (a) finding malformation of the superior olive (brainstem auditory center) in the brains of people with autism, then (b) the followup finding of the same malformation in rats exposed to valproic acid (Depakote) during gestation [1,2].

    [1] Kulesza RJ Jr, Lukose R, Stevens LV. Malformation of the human superior olive in autistic spectrum disorders. Brain Res. 2011 Jan 7;1367:360-71.
    [2] Lukose R, Schmidt E, Wolski TP Jr, Murawski NJ, Kulesza RJ Jr. Malformation of the superior olivary complex in an animal model of autism. Brain Res. 2011 Jun 29;1398:102-12.

  4. Katie Wright
    December 21, 2011 at 11:38 am

    I agree w/ many of the studies on the list- especially the finding that autism is at least 50% environmentally triggered. I also like the studies on the crazed inflammatory response in children regress suddenly into autism. Genes did not suddenly cause my son to develop encephalitis. AS did a good job w/ this list.

    However….as far as the De Novo mutations and the “knock out mice” – it fells like for 10 yrs we have been hearing big promises made by these researchers about the “big breakthroughs” that would result from this research. Still waiting….only amounted to an endless genetic goosechase.

    Now we need to see a lot more treatment and environmental research.

    • ML
      December 21, 2011 at 11:59 am

      Hi Katie
      It is true that 2 of the studies present the importance of the environment and the immune system, but these articles are not related to translational research.
      For example, this manuscript of Dr Ashwood was .IMO, very important

      http://www.ncbi.nlm.nih.gov/pubmed/22114588

      Gastroenterol Res Pract. 2011;2011:161358. Epub 2011 Oct 26.
      The potential role of probiotics in the management of childhood autism spectrum disorders.
      Critchfield JW, van Hemert S, Ash M, Mulder L, Ashwood P.

      Many of us have applied probiotics by years, under medical guidance.
      And many other different manuscript IMO have been published in 2011 that discuss important aspects for those of us with children that have many many medical problems that require further research and consideration.
      Therefore that was the reason of my former comment.

  5. ML
    December 21, 2011 at 12:01 pm

    To complete
    to mention one condition that is important at home: PANDAS …I think that the connection PANDAS-PITAND- Autism should be properly researched , clinically and in terms of the better treatments- especially when there are many other problems , too. And there have been several news on this topic this year…..

  6. Sarah
    December 24, 2011 at 10:09 am

    Under environmental causes linked to autism, I think Dr. Derrick MacFabe and his colleagues study on exposure of lab rats to propionic acid should be included. Propionic acid is an anti-fungal preservative widely used in agricultural practices to prevent mold on hay and soy grain. MacFabe’s study showed that exposure to propionic acid can cause autistic behaviors in lab rats. MacFabe ws recently interviewed for a documentary called “The Autism Enigma” that aired on CBC. Here is a link:

    The Autism Enigma: http://cogentbenger.com/autism/

    Neurobiological effects of intraventricular propionic acid in rats: Possible role of short chain fatty acids on the pathogenesis and characteristics of autism spectrum disorders

    Derrick F. MacFabe a,∗, Donald P. Cain b, Karina Rodriguez-Capote c, Andrew E. Franklin d, Jennifer E. Hoffmanb, Francis Boond, A. Roy Taylor d,
    Martin Kavaliers b, Klaus-Peter Ossenkopp b

    Abstract

    Clinical observations suggest that certain gut and dietary factors may transiently worsen symptoms in autism spectrum disorders (ASD), epilepsy and some inheritable metabolic disorders. Propionic acid (PPA) is a short chain fatty acid and an important intermediate of cellular metabolism. PPA is also a by-product of a subpopulation of human gut enterobacteria and is a common food preservative. We examined the behavioural, electrophysiological, neuropathological, and biochemical effects of treatment with PPA and related compounds in adult rats. Intraventricular infusions of PPA produced reversible repetitive dystonic behaviours, hyperactivity, turning behaviour, retropulsion, caudate spiking, and the progressive development of limbic kindled seizures, suggesting that this compound has central effects. Biochemical analyses of brain homogenates from PPAtreated rats showed an increase in oxidative stress markers (e.g., lipid peroxidation and protein carbonylation) and glutathione S-transferase activity coupled with a decrease in glutathione and glutathione peroxidase activity. Neurohistological examinations of hippocampus and adjacent white matter (external capsule) of PPA treated rats revealed increased reactive astrogliosis (GFAP immunoreactivity) and activated microglia (CD68 immunoreactivity) suggestive of a neuroinflammatory process. This was coupled with a lack of cytotoxicity (cell counts, cleaved caspase 3 immunoreactivity), and an increase in phosphorylated CREB immunoreactivity. We propose that some types of autism may be partial forms of genetically inherited or acquired disorders involving altered PPA metabolism. Thus, intraventricular administration of PPA in rats may provide a means to model some aspects of human ASD in rats.
    © 2006 Elsevier B.V. All rights reserved

    full study: http://psychology.uwo.ca/pdfs/autism/MacFabe%20etal07.pdf

  7. Sarah
    December 25, 2011 at 10:19 pm

    Under environmental causes linked to autism, I think Dr. Derrick MacFabe and his colleagues study on exposure of lab rats to propionic acid should be included. Propionic acid is an anti-fungal preservative widely used in agricultural practices to prevent mold on hay and soy grain. MacFabe’s study showed that exposure to propionic acid can cause autistic behaviors in lab rats. MacFabe ws recently interviewed for a documentary called “The Autism Enigma” that aired on CBC. Here is a link:

    The Autism Enigma: http://cogentbenger.com/autism/

    Neurobiological effects of intraventricular propionic acid in rats: Possible role of short chain fatty acids on the pathogenesis and characteristics of autism spectrum disorders

    Derrick F. MacFabe a,∗, Donald P. Cain b, Karina Rodriguez-Capote c, Andrew E. Franklin d, Jennifer E. Hoffmanb, Francis Boond, A. Roy Taylor d,
    Martin Kavaliers b, Klaus-Peter Ossenkopp b

    Abstract

    Clinical observations suggest that certain gut and dietary factors may transiently worsen symptoms in autism spectrum disorders (ASD), epilepsy and some inheritable metabolic disorders. Propionic acid (PPA) is a short chain fatty acid and an important intermediate of cellular metabolism. PPA is also a by-product of a subpopulation of human gut enterobacteria and is a common food preservative. We examined the behavioural, electrophysiological, neuropathological, and biochemical effects of treatment with PPA and related compounds in adult rats. Intraventricular infusions of PPA produced reversible repetitive dystonic behaviours, hyperactivity, turning behaviour, retropulsion, caudate spiking, and the progressive development of limbic kindled seizures, suggesting that this compound has central effects. Biochemical analyses of brain homogenates from PPAtreated rats showed an increase in oxidative stress markers (e.g., lipid peroxidation and protein carbonylation) and glutathione S-transferase activity coupled with a decrease in glutathione and glutathione peroxidase activity. Neurohistological examinations of hippocampus and adjacent white matter (external capsule) of PPA treated rats revealed increased reactive astrogliosis (GFAP immunoreactivity) and activated microglia (CD68 immunoreactivity) suggestive of a neuroinflammatory process. This was coupled with a lack of cytotoxicity (cell counts, cleaved caspase 3 immunoreactivity), and an increase in phosphorylated CREB immunoreactivity. We propose that some types of autism may be partial forms of genetically inherited or acquired disorders involving altered PPA metabolism. Thus, intraventricular administration of PPA in rats may provide a means to model some aspects of human ASD in rats.
    © 2006 Elsevier B.V. All rights reserved

    full study: http://psychology.uwo.ca/pdfs/autism/MacFabe%20etal07.pdf

  1. December 22, 2011 at 3:32 pm
  2. December 27, 2011 at 2:55 am

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