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Autism screening closer as 100 genes linked to disorder are identified

Discussion in 'Other Health News and Research' started by Bob, Oct 30, 2014.

  1. Bob

    Bob

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    Autism screening closer as 100 genes linked to disorder are identified
    A 10 year study examining the DNA of thousands of children with autism has found 100 gene mutations which are responsible for the disorder
    The Daily Telegraph (UK)
    29 Oct 2014
    http://www.telegraph.co.uk/science/...-genes-linked-to-disorder-are-identified.html
     
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  2. Bob

    Bob

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    Also, there's a BBC article here:

    Study points to new genetic risks for autism
    BBC News
    30 October 2014
    http://www.bbc.co.uk/news/health-29819746
     
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  3. Bob

    Bob

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    I think this is the paper referred to, published in Nature...

    Synaptic, transcriptional and chromatin genes disrupted in autism
    De Rubeis et al.
    Nature
    doi:10.1038/nature13772
    Published online 29 October 2014
    http://www.nature.com/nature/journal/vaop/ncurrent/full/nature13772.html

     
  4. natasa778

    natasa778 Senior Member

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    Most likely a red herring ... i.e. not causative (or even risk-forming) but simply a consequence of longer genes being more at risk of mutations, as with cancer

    http://scienceoveracuppa.com/2013/06/30/all-roads-once-led-to-rome-but-do-all-roads-lead-to-autism/


    What needs to be looked at imo is WHY the activation of mobile elements in parents/germline/embrio is happening, only then can we start talking about risk :)
     
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  5. natasa778

    natasa778 Senior Member

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  6. taniaaust1

    taniaaust1 Senior Member

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    Very interesting as I have Aspergers and Valentijns program which picks out the more uncommon gene mutations we have.. a had quite a few double copy ones to do with lysine
     
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  7. Sidereal

    Sidereal Senior Member

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    The prevalence of autism spectrum disorders has been rising rapidly in recent decades. Clearly the most important risk factors must be environmental. By environmental I don't mean to imply refrigerator mother or other psychoquackery. I'm talking infections, toxins, diet, antibiotics etc.

    The Nature abstract doesn't say what the effect sizes are for these genes (likely abysmal). In general, genetic research has been a total failure in the study of neuropsychiatric disorders and has brought us no closer to better prevention and treatment. An incredible amount of money has been spent on genetic research of this sort. Everyone can judge for themselves if it has led to any therapeutic breakthroughs for autism, schizophrenia, mood disorders, Alzheimer's, Parkinson's, MS, ALS etc.
     
  8. Valentijn

    Valentijn Senior Member

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    Yeah, C alleles like to degrade T alleles as a natural matter of course, so it really isn't odd to find some de novo (non-inherited) mutations. It's a bit more interesting if a large number of patients are sharing the same mutations, de novo or otherwise, when compared to controls. A rate of 5% of patients having a mutation is not impressive unless we also have similar data for controls.

    And when someone says they found 107 relevant genes, it really sounds like they found a bunch of tiny effects and might or might not have made statistical corrections to account for looking at so many SNPs.
     
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  9. Bob

    Bob

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    I'm not too familiar with aspergers/autism research, and I wonder if aspergers/autism rates are actually rising, or whether perhaps it's just recognition and diagnosis that are improving, along with better statistics gathering?

    Years ago, many people with high-functioning aspergers/autism would not have had any diagnosis whatsoever, and many with autism may not have had been recognised as having autism but may have been given some other vague label.

    Perhaps it's a bit like when some people say that ME/CFS is a phenomenon of the developed world, and that it doesn't exist in the developing world. How could they possibly know what the prevalence rates are in the developing world, if local doctors don't have any training such that they can recognise or identify the illness?
     
    Last edited: Nov 1, 2014
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  10. Sidereal

    Sidereal Senior Member

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    Yep, the better detection/recognition/diagnosis objection has been raised many times in the literature on autism. I don't have any references handy as this is not an area that I'm particularly interested in but as far as I know it has been shown that rates are actually rising and that better recognition of this disorder can only partly account for that.

    But yes, as you say, in the past high functioning autism spectrum individuals were not diagnosed with anything. The severely affected ended up with a diagnosis of schizophrenia (when this was a very broad label applied to all kinds of problems, especially by American psychiatrists) or intellectual disability.
     
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  11. barbc56

    barbc56 Senior Member

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    @Bob @Sidereal

    Bingo! I just read this article which says the same thing.

    My bold.
    http://www.sciencebasedmedicine.org/autism-prevalence-unchanged-in-20-years/

    Early in my career, I worked with birth to five year old children with developmental delays. Some of these children who would have a diagnosis of autism today would have been labeled as developmentally delayed or retarded. Later when I worked with emotionally disturbed adolescents some of the student's with a label of aspergers would have been labeled with a personality disorder, behavior disorder or emotionally disturbed.

    In the same article I have cited, it also discusses that the type of brain changes seen in autism would have to occur in the womb.

    Barb
     
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  12. MeSci

    MeSci ME/CFS since 1995; activity level 6?

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    If there is a genetic component, another reason for increase could be that people are now living long enough to procreate who would previously have died before they could. Example include premature babies surviving due to incubators, etc., and children and adults not catching fatal infectious diseases due to vaccination, or surviving them due to antibiotics and antivirals. Such people might have been 'selected out' by natural selection before. Such people may have a higher likelihood of having children with combinations of SNPs that predispose to autism and/or ME, etc.
     
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  13. natasa778

    natasa778 Senior Member

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    There have actually been several studies published in recent years showing that most of the increase in autism numbers is down to actual/real increase. In other words only some of the increase is due to wider criteria/ including milder cases and to diagnositic subsitution but those two factors cannot account for the sharp and steady rise in numbers, not by a long shot.
     
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  14. barbc56

    barbc56 Senior Member

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    The study I cited took into accout these other factors. I was surprised by the result as I thought there was a bit of an increase.

    This study looks pretty sturdy. There have been other studies showing the same results but they aren't as extensive.

    Barb
     
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  15. natasa778

    natasa778 Senior Member

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    That study and esp the SBM comment you posted Barb are full of holes, and riddled with (ideological) conflict of interest. All I have time for :)
     
  16. chipmunk1

    chipmunk1 Senior Member

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    http://www.theguardian.com/science/...al-scrrening-test-autism-ethical-implications

    A large percentage of parents would almost certainly use a prenatal autism test to make a decision on whether to terminate the pregnancy – if the statistics for Down's syndrome since the introduction of prenatal screening are anything to go by. It is believed that around 90% of pregnancies in England and Wales that receive a diagnosis of Down's syndrome are aborted.

    Not sure if genetic screening is always a good development.
     
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