Autism Phenome Project announces first results at the Asia Pacific Autism Conference

8 Sep

The Asia Pacific Autism Conference is ongoing in Perth Australia. Prof. David Amaral of the Mind Institute at U.C. Davis (California) will speak and present the first results from the Autism Phenome Project. This is a study to separate autism into various groups, or phenomes.

Here is a blurb from the press announcement for the conference:

The announcement of the first results of the Autism Phenome Project, the largest and most comprehensive assessment of children with Autism ever attempted. The project started in 2006 and is being conducted at the MIND Institute at the University of California, Davis (UC Davis). It is headed by Dr David Amaral and involves 52 scientists across eight fields. Dr Amaral is the President of the International Society of Autism Research. He is Distinguished Professor of Psychiatry and Behavioural Sciences at the Centre for Neuroscience at UC Davis. He is also Research Director and Beneto Foundation Chair of the MIND Institute. Dr Amaral will announce the results.

An Australian news outlet carried the story as US researchers’ discovery promises answers on autism.

Researchers from the University of California Davis’s MIND Institute in Sacramento began the Autism Phenome Project in 2006. They have been studying the brain growth, environmental exposure and genetic make-up of 350 children aged between 2 and 3 1/2 years, and have so far found two biologically distinct subtypes of autistic brain development.

One group of children – all boys – had enlarged brains and most had regressed into autism after 18 months of age; another group appeared to have immune systems that were not functioning properly.

Prof. Amaral’s slides have been made available.

They show, amongst other findings

Total cerebral volume is highly variable in ASD, but appears to be on average higher in ASD boys than controls.

There are various onset types: early onset, plateau, and regression.

Those who exhibit loss of skills have enlarged brains. But, interestingly, the head circumferences start to diverge at about 4-6 months. I.e. there are signs even before the regression occurs.

However, he has a talk “Neurobiological and neuro-immune features of Autism” with the following abstract:

The slides do not appear to discuss the immune phenotype mentioned in the press. However, Autism now affects 1:110 children in the United States. It is a complex disorder that likely has many variants and various etiologies. The first half of this presentation evaluates the hypothesis that the amygdala plays an important role in the pathophysiology of autism. First, MRI studies of the amygdala in children with autism are presented. Then, postmortem data on the morphology of the amygdala in autism are described. Observations are presented both on neurons and glia in the amygdala. Taken together these data confirm that the amygdala is clearly pathological in autism. Given that the amygdala is pathological, what might this pathology contribute to the behavioural impairments of autism? To address this issue, research on the nonhuman primate is discussed. These studies highlight a role for the amygdala in fear regulation and perhaps in mediating the co?morbid anxiety in autism. In the second part of the talk, data demonstrating abnormalities of the immune system of children with autism and a subset of mothers of children with autism are discussed. I also review findings of a nonhuman primate model of autism based on a neuroimmune intervention.

12 Responses to “Autism Phenome Project announces first results at the Asia Pacific Autism Conference”

  1. Jon Brock September 8, 2011 at 15:18 #

    Amaral gave a brilliant presentation at the Brain Research meeting in San Diego last November. I’m assuming his presentation in Perth is an updated version.

    This from my blog of the San Diego meeting:

    “To illustrate some of these points, Amaral presented two strands of research from his own lab. The first related to MRI studies of the amygdala. The available cross-sectional data suggests early overgrowth, such that the amygdala are at their final adult size by around eight years in autism, compared with 18 years or so in typical development. Looking at much younger kids showed that the amygdala are significantly larger than in controls by 3 years of age. However, there appeared to be three subgroups within the autism cohort: kids with rapid amygdala growth but normal total cerebral volume; kids with the opposite pattern (enlarged total cerebral volume but normal amygdala growth); and kids for whom both amygdala and total cerebral volume were normal.

    “Amaral also presented some fascinating work on autoimmune function in autism. In one study, his team looked for autoantibodies in the blood samples of kids with autism and then used them to stain monkey brains. They identified some unusual antibodies that targeted Golgi cells in the cerebellum. In another study, his group detected IgG antibodies in the blood of a small subgroup of mothers of autistic children. These were then injected into pregnant rhesus monkeys. The offspring showed no robust changes in social behaviour, but did show evidence of increased hyperactivity and whole body stereotypies.

  2. Shannon September 8, 2011 at 16:54 #

    For supplemental purposes: we transcribed Amaral’s MIND Institute colleage C. M. Schumann’s IMFAR 2011 talk on the Neuropathology of the Amygdala in Autism at TPGA:

  3. brian September 8, 2011 at 17:28 #

    While discussing his recent work at the 2011 IMFAR press conference, Dr. Eric Courchesne discussed the evidence that supports the hypothesis that the brain overgrowth discussed by Dr. Amaral that is observed in autism (especially in children who regress) begins in utero:

    [W]e found genetic evidence of dysregulation of the functions governing the number of cells in the brain, genetic evidence of dysregulation of functions that govern the migration of cells in the brain from where they’re born to where they reside in the cerebral cortex, and genetic evidence of dysregulation of patterning of the brain, the normal left-right asymmetry of the brain; all of those functions are second trimester functions. The genetic evidence we found points strongly to dysregulation of functions that are important for constructing the cerebral cortex in autism . . . in the second trimester.

    In frontal cortex there is an almost two-fold increase in the total number of brain cells in two year-olds and three year-olds with autism, so that sort of evidence points to . . . very early events that are driving the failure of the normal organization of the brain. All of these events are prenatal . . . Our evidence is all genetic; that doesn’t mean that there are not environmental factors that may also be playing out in the first or second trimester . . . There is no known postnatal method in the human for generating a gigantic excess of neurons, and that suggests a prenatal event.

  4. brian September 8, 2011 at 17:30 #

    Sorry, the final paragraph in my post above is also a quotation.

    • Sullivan September 8, 2011 at 18:24 #

      Hope you don’t mind–I edited the comment to make it a quote.

      I don’t know why the blockquotes aren’t working with paragraphs in the comments.

  5. sharon September 8, 2011 at 23:42 #

    Just finished reading the news article in The Australian. Does anyone know if the kids who were shown to have the impaired immune function were also likely to have gut issues? And if Aspergers was considered in the study?

    Am off to this conference tomorrow, hopefully havent missed all the good bits.

    • Sullivan September 9, 2011 at 01:17 #


      the information on the immune group is scant. It isn’t mentioned in the slides which were posted online.

  6. sharon September 9, 2011 at 04:10 #

    Thanks Sullivan, that’s how it seemed to me.

    Just wondering if this research lends any credibility to the biomedical model? And if they looked at children right across the spectrum?

    Suppose I can ask around tomorrow.

  7. sharon September 10, 2011 at 12:06 #

    I did try to chase Prof. Amaral through the crowd today at APAC to ask my above questions but he escaped. Some may also be interested in the current LaTrobe genetics study. Apologies for only having my very brief blog post to link to but I am yet to find anything online.


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