Autism Spectrum Disorders: From Mechanism to Therapy Day 1 of the Cell/Society for Neuroscience conference that I am…

Autism Spectrum Disorders: From Mechanism to Therapy Day 1 of the Cell/Society for Neuroscience conference that I am attending. Some highlights:

• In 1943, Johns Hopkins physician Leo Kanner first described autism as the “innate inability to form usual biologically affective contact with other people”. The next year, Dr. Asperger described some Austrian children he was treating, with similar traits.

• autism has tremendous heterogeneity and it is said that “if you have seen 1 child with autism, you have seen 1 child..”

• autism is associated with many other problems (comorbidity)..1/3 have seizures, also common are attention deficit hyperactivity disorder, intellectual disability, gastrointestinal and immune disorders

• autism is highly inheritable (50-88% concordance in identical twins), but inheritance is complex rather than simple Mendelian. There are many genes (>105) that cause or increase risk, possibly with common pathways.

• environmental factors are involved but unclear. As proof of concept, mothers who have taken valproic acid (for depression) or thalidomide, or have Rubella (German Measles) when pregnant have higher risks of having autistic children

• Mouse models of autism mimic the social impairment, repetitive behavior and language problems. Wait..mice talk? Yes! I heard ultrasonic recordings of pups calling to their mothers, males confronting one another, and romantic love songs between mates! Very cute mouse chat!

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19 Responses to Autism Spectrum Disorders: From Mechanism to Therapy Day 1 of the Cell/Society for Neuroscience conference that I am…


  1. <— Stepmother of an autistic child. Proud.

  2. Sherri Vance says:


    Thanks for sharing what you’re learning!

  3. V. Devaney says:


    There was a recent study out comparing young children’s brains – autistic children have certain larger areas with more cells. This development occurs prior to birth and they think may be part of the structural change that results from the environmental/genetic factors and contributes to the functional differences we see in people.

  4. Rajini Rao says:


    V. Devaney , thanks, ~20% of children with autism have larger brains and this is observed before autism manifests itself..as the commentary on the JAMA paper puts it, “the present findings add significantly to mounting biological evidence that the developmental neuropathology of idiopathic autism begins before birth in some, possibly all, cases.” In the paper, they report that the number of neurons in the prefrontal cortex was higher in the postmortem brains of autistic boys, relative to typical brains, that were examined.

  5. V. Devaney says:


    And that’s the area related to social function (the primary symptom) correct?

  6. V. Devaney says:


    Also, out of curiosity… How many of the genetic factors that may contribute relate to folate metabolism?

  7. Rajini Rao says:


    V. Devaney , yes, that’s right..as to specific connections to folate metabolism, I don’t know the answer, but I can find a link to a site that lists all genes associated with autism to date, and pathways. Most of the studies relate to synapse structure and function, a few to mitochondria and to the TOR pathway that is related to nutrition.

  8. V. Devaney says:


    Thanks. I know that some studies have shown that while the affected individuals themselves don’t have it, their mothers may have poor folate metabolism and require lots of extra supplementation in order for there to be adequate folate available during pregnancy to their child. I can probably find those papers; I don’t recall the journal/author offhand.

  9. Rajini Rao says:


    Cool, let me know, thanks!


  10. The same year, Dr. Asperger described some Baltimore children


    What is a Baltimore child?

  11. V. Devaney says:


    A child who lives in Baltimore, Maryland.


  12. V. Devaney But Dr. Asperger lived in Austria! If it isn’t the name of a condition, it makes no sense.

  13. V. Devaney says:


    A few articles on autism and folate/methylation:


    http://www.ajcn.org/content/91/6/1598.full


    http://www.ncbi.nlm.nih.gov/pubmed/18514430


    http://www.jpands.org/vol9no4/boris.pdf


    Obviously a quick PubMed search will get you more.


    I don’t think it’s the be-all end-all of autism but it appears to be a possible cause for some changes in some cases.

  14. Rajini Rao says:


    Víktor Bautista i Roca , you are correct..thanks for pointing that out..I edited the post.

  15. Rajini Rao says:


    V. Devaney , thanks for the links. There happened to be a poster on the folate connection at this meeting: Cerebral Folate Deficiency is caused by folate receptor autoantibodies, which block transport of folate across the blood brain barrier. High levels of these antibodies were detected in the autistic population and treatment with leucovorin calcium (folinic acid) led to improvement of behavioral symptoms. Here is another link on folate receptor autoimmunity I found on PubMed. http://www.ncbi.nlm.nih.gov/pubmed?term=folate%20receptor%20antibodies%20autism


    Yet another piece of the autism puzzle!

  16. V. Devaney says:


    Very interesting! Thanks!


  17. Rajini Rao You are welcome. I thought it might be some disease or syndrom, as “Rett children” or “Down children”

  18. Rajini Rao says:


    Víktor Bautista i Roca , haha, no..just bad notes taking..must have tuned out for a moment (or more) at my conference 🙂


    Rett/Fragile X/Timothy and so on are interesting..they are the so-called syndromic cases of autism where a specific gene can be assigned and having the mutation or genetic defect has an almost certain probability of the disorders. Understanding these obvious cases may help the more common forms which are difficult to pin down.

  19. satya das says:


    can u please tell me about the music used in this

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