Autism Research Today

31 Aug

What is really important in autism research today? Believe it or not, the online world may give you a slightly skewed idea of what is really considered important.

Dateline had a special tonight on Autism. I’ve stayed away from it so far, but I saw this additional material on the MSNBC website and wanted to post it here.

It includes intereviews with Dr. Margaret Pericak-Vance, head of the new John P. Hussman Institute for Human Genomics and Dr. Eric CourchesneH of U.C. San Diego.

She is head of a new, $100M center and he is one of the top cited researchers in autism. Dr. Courchesne has been asking important questions and writing important papers since the 1990’s.

The video clip doesn’t go into depth about the research, but it is worth the watch.

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12 Responses to “Autism Research Today”

  1. brian August 31, 2009 at 04:53 #

    Francis Collins, the new director of the US National Institutes of Health, recently indicated that one of his five priorities will be high-throughput technologies in areas that are “poised for this kind of approach,” such as gene transcription and autism studies.

    http://blogs.sciencemag.org/scienceinsider/2009/08/collins-sets-fi.html

  2. RAJ August 31, 2009 at 14:35 #

    Courchesne’s Institute (University of California San Diego) is one of a large number of research institutes who are members of the High Risk Baby Siblings Research Consortium. These groups are studying the younger siblings of children diagnosed with an ASD. The theory is that ASD can be diagnosed as young as six months of age and by following the developmental trajectory of the siblings over several years new diagnostic tools may be developed that may lead to early diagnosis (as early as six months) and referral to treatment centers.

    http://www.autismspeaks.org/science/research/initiatives/babysibs_researchers.php

    The first research study has been published and the results are surprising, and completly opposite of what the consortium had expected. The study examined eye gaze at six months of age and found that siblings of autistic children had lower eye gaze compared to healthy controls.

    A followup study conducted eighteen months later found that none of the children, at risk for ASD because of an older sibling diagnosed with an ASD and lower eye gaze scoring at six months of age, had any signs of autism at followup. Paradoxically, “three infants who were diagnosed with autism demonstrated consistent gaze to the eye region and typical affective responses at 6 months”.

    http://www.ncbi.nlm.nih.gov/pubmed/19702771?

    Courchesne’s group is interested in the ‘brain overgrowth’ theory of autism. The consortium will be taking MRI’s of high risk siblings over time. No results have been published.

    Large head size has been invoked as a marker for ASD, but large head size has also been reported in a subgoup of children diagnosed with ADHD. The large head size in ASD and ADHD in small subgoups may be more associated with impulsive and hyperactive activity in the subgroup of ASD children with megalencephaly:

    http://www.ncbi.nlm.nih.gov/pubmed/10466865?

    No gene specific to autism has ever been identified, however a growing number of genetically influenced mental retardation syndromes with links to ASD have been proposed. Fragile X is associated with megalencephaly (large head cicumference), however, Down Syndrome, Williams Syndrome, Angelman Syndrome and Rhett Syndrome are all associated with microencephaly (small head circumference).

  3. Suzanne August 31, 2009 at 14:48 #

    My autistic 8 yo was recently dxed with a PTEN gene mutation. Bannayan-Riley-Ruvalcaba. His head (and likely brain) grew enormously in the first year or 2. It is an overgrowth syndrome

  4. dr treg August 31, 2009 at 17:59 #

    Although genes, MRIs and clinical features are being investigated it is important that the following are also investigated
    1. The immunological system, including blood and CSF e.g. TNF levels and regulatory T-cell activity.
    2. Potential immunogens and auto-immunogens causing the abnormal immuno-genetic response.
    3. The microcolumns containing dendrites and dendritic spines.

  5. Sullivan August 31, 2009 at 19:54 #

    RAJ,

    Courchesne’s hypothesis (or theory, since he has actual data to back him up) is that it is not merely megalencephaly that is linked to autism, but abnormal brain growth.

    In specific, the idea is that for many autistic children they start out with head sizes which are in the normal range, but that the head sizes grow during the first years.

    from one of his papers:

    Results: Neonatal head circumferences from clinical records were available for 14 of 15 autistic 2- to 5-year-olds and, on average, were normal (35.1 +/- 1.3 cm versus clinical norms: 34.6 +/- 1.6 cm), indicative of normal overall brain volume at birth; one measure was above the 95th percentile. By ages 2 to 4 years, 90% of autistic boys had a brain volume larger than normal average, and 37% met criteria for developmental macrencephaly. Autistic 2- to 3-year-olds had more cerebral (18%) and cerebellar (39%) white matter, and more cerebral cortical gray matter (12%) than normal, whereas older autistic children and adolescents did not have such enlarged gray and white matter volumes

    Comparing his results to all forms of megancephaly isn’t precise or accurate.

  6. dr treg August 31, 2009 at 20:23 #

    Courchesne also describes minicolumn abnormalities in autism. Minicolumns contain dendrites and dendritic spines.
    http://www.ncbi.nlm.nih.gov/pubmed/16972882?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_Discovery_RA&linkpos=1&log$=relatedarticles&logdbfrom=pubmed
    Minicolumnar pathology has been described in autism. “Specifically, cell columns in brains of autistic patients were more numerous, smaller, and less compact in their cellular configuration…”
    http://www.ncbi.nlm.nih.gov/pubmed/11839843?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_Discovery_RA&linkpos=1&log$=relatedarticles&logdbfrom=pubmed
    Perhaps quantity i.e. head size/ neuron numbers doesnt matter and quality i.e. the number of connections between neurons is more important.

  7. RAJ August 31, 2009 at 23:50 #

    “My autistic 8 yo was recently dxed with a PTEN gene mutation. Bannayan-Riley-Ruvalcaba. His head (and likely brain) grew enormously in the first year or 2. It is an overgrowth syndrome”

    The PTEN genetic mutation is associated with brain overgrowth and a subgroup also meet diagnostic criteria for an ASD. However, the PTEN gene mutation and (Bannayan-Riley-Ruvalcaba) also has a higher risk for Developmental Delay or Mental retardation without autism, and therefore is not an autism specific ‘gene’.

    http://www.ncbi.nlm.nih.gov/pubmed/19265751?

    Sullivan wrote:
    “Comparing his results to all forms of megancephaly isn’t precise or accurate”

    It certainly is, with respect to the PTEN genetic mutation syndrome(s). The previously posted study found brain overgrowth and PTEN mutations are associated with a variety of outcomes and is not specific to autism.

    The failure of the autism research community is in the lack of appropriate controls which is the only method that can determine whethe a gene associated with variable outcomes is an autism gene or not. So far, no autism gene has ever been identified. Every gene claimed to be an autism gene has also been reported in developmental disorders without autism.

    One of the more notable examples in Angelman’s Syndrome which is associated with severe mental retardation, ataxia and early onset siezures.

    Some autism researchers look at Angelman’s Syndrome children and see autism. However the Angelman Foundation Organization on its website states that Angelman’s Syndrome is often misdiagnosed as cerebral palsy or autism:

    http://www.angelman.org/stay-informed/

    Angelman Syndrome children have even been found in the AGRE data base.

    • Sullivan September 1, 2009 at 01:42 #

      Sullivan wrote:
      “Comparing his results to all forms of megancephaly isn’t precise or accurate”

      It certainly is, with respect to the PTEN genetic mutation syndrome(s)

      What are you trying to say? I stated that one can’t compare Dr. Courchesne’s work to all research on megalencephaly (which you appear to do with the abstracts you linked to). All. You can’t say “it certainly is” and then limit yourself to just the PTEN syndromes.

      it doesn’t follow logically.

    • Sullivan September 1, 2009 at 01:51 #

      Every gene claimed to be an autism gene has also been reported in developmental disorders without autism.

      You have a list?

  8. dr treg September 1, 2009 at 00:34 #

    Isnt it becoming clearer that the word “autism” is clouding the issue? There are several diseases which have “autistic” features. Perhaps instead of trying to tie in abnormal thoughts/feelings/behavior with the word “autism” a more functional approach should be adopted. Psychiatric nosology seems to be increasingly outdated.

  9. Mike Stanton September 4, 2009 at 21:00 #

    Here is a list

    http://www.mindspec.org/autdb.html

  10. Liz Wydra November 16, 2009 at 02:05 #

    Liens Blogroll n’est pas terrible: P mais je ne suis pas l’admin …: P … disais simplement: P: D

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