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Tue, Nov 11 2008

New Theory About Autism and Genetics

“[A] sweeping theory of brain development that would change the way mental disorders like autism and schizophrenia are understood”——a “new idea” that “provides psychiatry with perhaps its grandest working theory since Freud, and one that is grounded in work at the forefront of science”: Today’s New York Times uses such grand language to introduce a new theory of psychiatric disorders in which parents’ genes are “in competition.” The theory is the work of Bernard Crespi, a biologist at Simon Fraser University in Canada, and Christopher Badcock, a sociologist at the London School of Economics. Here’s how the New York Times describes it:

Dr. Crespi and Dr. Badcock propose that an evolutionary tug of war between genes from the father’s sperm and the mother’s egg can, in effect, tip brain development in one of two ways. A strong bias toward the father pushes a developing brain along the autistic spectrum, toward a fascination with objects, patterns, mechanical systems, at the expense of social development. A bias toward the mother moves the growing brain along what the researchers call the psychotic spectrum, toward hypersensitivity to mood, their own and others’. This, according to the theory, increases a child’s risk of developing schizophrenia later on, as well as mood problems like bipolar disorder and depression.

In short: autism and schizophrenia represent opposite ends of a spectrum that includes most, if not all, psychiatric and developmental brain disorders. The theory has no use for psychiatry’s many separate categories for disorders, and it would give genetic findings an entirely new dimension.

What’s going on is not so much a “turning on or off” of genes but a “muffling” or “altering” of a gene “with a chemical marker that makes it hard for the cell to read the genetic code.” To illustrate how such an altering of a gene can present itself in seemingly opposite conditions, Dr. Crespi and Dr. Badcock point to Angelman Syndrome and Prader-Willi Syndrome, which both involve genetic disruptions on chromosome 15. Individuals with Angelman Syndrome have a “stiff, jerky gait, absent speech, excessive laughter and seizures.” Those with Prader-Willi Syndrome have “low muscle tone, short stature ….., incomplete sexual development, and a chronic feeling of hunger that, coupled with a metabolism that utilizes drastically fewer calories than normal, can lead to excessive eating and life-threatening obesity.” If the father’s genes dominate in the region of chromosome 15, a child develops Angelman Syndrome; if the mother’s genes dominate in that same region of chromosome 15, a child has Prader-Willi Syndrome: “The former is associated with autism, and the latter with mood problems and psychosis — just as the new theory predicts.”

Dr. Badcock noted similar contrasts in autism and schizophrenia, in terms of eye gaze (while autistic persons fail “to meet another’s gaze,” people with schizophrenia “often believe they are being watched”) and the notion that autistic persons are “mind-blind” and unable to infer others’ intentions and feelings, while (in contrast) “people with schizophrenia see intention and meaning everywhere, in their delusions.”

A number of scientists are quoted in the New York Times article as noting that the theory seems potentially “plausible” while yet “wrong” in terms of many of its details. The theory seems to draw much on theories of autism developed by psychology professor Simon Baron-Cohen, such as his work on mind-blindness and autistic persons lacing empathy, and on the notion that autism is the manifestation of the “extreme male brain,” according to which men are systemizers/engineers, while empathy is associated with the “female” brain. I’ve wondered often about expressions of empathy as displayed by my son; certainly, his tendency to systematize is apparent in his creation of patterns of order for himself. I do rather suspect, at least a few mothers will raise an eyebrow to find themselves even theoretically linked to a “psychotic spectrum,” however much it’s linked with a “hypersensitivity” to mood and feelings.

The male/systemizer and female/empathizer categories don’t fall into place very neatly in my own household. I’m more likely to set a few principles of order around here and Jim is very much, intuitively, attuned to what others are sensing and feeling—-how “sweeping” will this new theory be?

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Comments

  1. By Jorma J. Takala

    EDTA is the cause of Autism and so much more!

    EDTA the preservative used in Margarine and Mayonnaise is made from formaldehyde and sodium cyanide.

    EDTA is in just about every household in America and it is deadly!

    It must be banned now!

  2. By Jorma J. Takala

    I have come to the conclusion that Margarine and all the artificial food additives IE: colors/dyes, flavors and the preservatives BHA, BHT and TBHQ are the primary cause of Autism and my Aspergers Syndrome.

    See my myspace page and also….

    myspaceDOTcomFORWARDSLASHcoaltardye

    http://thecauseofautism.blogspot.com

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  7. By Regan

    One thing that I dislike in these press releases is that it steers to a linearity, or worse–dichotomy– that I think is gross oversimplification.

    When I think of the choreography of phenotype, I think of it as something more like this:
    “Probing genetic overlap among complex human phenotypes”
    (Click on the graphic to enlarge)

  8. By Fleecy

    It’s an interesting hypothesis, but… (ah, there’s the “but”)

    Firstly, this whole notion of “bias towards the mother’s genes” leading to psychosis smacks of the old ideas of females being “hysterical.” I’m afraid that might drag down the whole hypothesis somewhat.

    Secondly, and arguably more importantly, this idea that autistic people are somehow opposite to emotional people.

    This idea has been repeatedly and strongly contradicted by autistic people themselves, who report being very emotional, at least as children (I’ve read at least one autistic person’s writing of being a very emotional child but, due to repeated bullying, eventually largely blocking out their emotions to try to cope with the trauma).

    I feel inclined to vouch for this myself as an autistic person who was also very emotional as a child. Thinking back on things, if anyone familiar with autism had encountered me when I was very young, it probably would’ve been fairly obvious to them that I was autistic (perhaps to the detriment of my overall sense of well-being I’ve learned to stuff down a lot of “autistic” things I do when I’m around other people, so it may be less obvious now, but I digress). I was also very emotional. Very obviously autistic, very emotional. That along with all the writings from other autistic people I’ve read, I’m afraid it sort of snuffs this hypothesis for me.

  9. By Jorma J. Takala

    RE:“The former is associated with autism, and the latter with mood problems and psychosis — just as the new theory predicts.”

    I agree with some of this.
    I find it disturbing that nobody is taking into consideration what I have been saying all along.

    The artificial food additives cause DNA damage, IE: genetic damage, like that which has occurred in chromosome 15.

    The fraternal, or paternal donation to that chromosome makes no difference when you don’t take the dna damage into account.

    Consuming petroleum and wood based coal tar based food additives can’t be good for our bodies and minds. And history has proven just how bad it is.

    What I discovered is the key and I wish I could get you people to take a chance and see if you think what I found is the truth.

    I believe it is.

    See my myspace page!

  10. By Kristina Chew, PhD

    @Hala—-

    hi first—–and thanks for that 2nd paragraph especially…….

  11. By Hala

    Since I made the first comment here, I’d like to mention that in no way do I think Baron-Cohen is woo, or a “charlatan,” or anything other than a good, solid, smart scientist who is unfortunately engaged in attempting to scientifically prove some fundamentally biased, flawed and silly hypotheses.

    My vitriol about the subject comes from the fact that the more Baron-Cohen (and those like him) use male autistics to define ALL autistics, the more girls and women fall through the diagnostic cracks.

  12. By Regan

    There’s a part of me that wonders whether the reporting is setting up the male-female dichotomy, and on a biological basis, the recombination and effect is more of probabilities.

    To some extent, this speculated model sounds like it is in early stages and will require much more data to confirm/dispute/articulate and identify mechanisms.

    Certainly leaps to conclusion and stereotyping are something to be avoided.

  13. By Sarah

    But then you get into the whole nature/nurture debate, the flawed measures which SBC uses, etc. Besides, autism isn’t necessarily characterized by being “cold” and “unemotional.” Some of us simply appear that way from the outside–it’s an NT perception. More over, some of us actually come across as hyper-emotional instead. IMO, the fact that this coincides with damaging female stereotypes can lead to autistic girls and women being under-diagnosed as a group. It’s too easy to say “just a hysterical female” without realizing that autistic traits are behind the meltdowns. (And there are many autistic men who have problems with emotions and mood disorders as well.) SBC’s conception of autism does not recognize the variety within the spectrum, nor does it attempt to view autism from the inside. (Granted, most autism research has this problem.)

    In short, this new theory sets up a false binary which simply doesn’t hold true in the real world.

  14. By Socrates

    Baron-Cohen has repeated stated that these traits cluster, statistically speaking, around men and women, but say nothing about individuals.

    Both Asperger and Kanner noted that some of the mothers had very similar traits to his male patients.

  15. By Eleanor

    I’m not like to treat the NYT’s explanation as definitive, but I do have to say that the explanation in the blurb sounds like sexist stereotypes to me. Male=cold and unemotional; female=irrational and hysterical. Given that, in my family, the autistic traits appear to manifest through the maternal line for the most part, this theory doesn’t fit my reality at all. Of couse, who is to say that I’m not just being hysterical and schizophrenic about it???

  16. By Socrates

    Given that the prevalence rates of schizophrenia and ASC’s are about 1%, then around 0.1% of people are likely to have a a dual diagnosis .

    (Superficially at least; untangling the negative symptoms of schizophrenia, and the occasional decompensatory psychoses seen in autism, is a task to tax even the most experience clinicians – most probably the patients would be given the best-fit, single diagnosis.)

  17. By RAJ

    “I am diagnosed with both autism and schizophrenia. So does this mean I am well-balanced? Or bipolar?”

    Having a dual diagnosis of autism and schizophrenia not only possible, but happens with increasinging regularity.

    It is the redefining of autism by behavioral genetics as a personality disorder or neuropsychiatric condition that has produced a wide overlap in conceptualization about these two, what should be unrelated conditions. Here’s one example how diagnosis by board certified clinincians can confer a diagnosis childhood schizophrenia but the same patient can qualify for an ASD diagnosis using Gold Standard daiagnostic tools for autism such as ADOS:

    http://www.ncbi.nlm.nih.gov/pubmed/18411867?

    The current state of the art in autism with its redefining the nature of autism and diagnostic criteria that was very specific prior to 1987 is now so vague ambigous and subjective that an ASD diagnosis can be made for peole who would have never qualified for an ASD diagnosis prior to 1987.

  18. Trackback
    1277 days ago
    Severe disorders as extremes in gene expression at EBD Blog

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  19. By Emily

    That’s one of the dumbest things I’ve ever read. And I’ve read the Hannah Poling thread lately.

  20. By Cliff

    “As far as I can tell there isn’t an argument between neurodiversity and Simon Cohen-Baron- this is the first time I’ve ever heard of the supposed huge conflict. Maybe at some point the ‘autism world’ can start working together to understand things and stop bitching about pro-cure/neurodiversity/pro and anti vax etc, and actually accomplish something. From what I read of the article the authors of the study hoped to provoke discussion, not name-calling or spitball throwing. Having a new way to think of the brain, or a new concept to throw around, should theoretically spur some creative thinking, even if the original concept is mistaken.”

    Woah, huge conflict between Baron-Cohen and neurodiversity? Baron-Cohen, at best, would be an interesting sidenote on the scale of neurodiversity-related concerns right now. My critique is as much a feminist one as a neurodiversity one (neurodiversity only really gets invoked with Baron-Cohen’s notion of the natural).

    And as to the name-calling… I hope you don’t mean “bogus”. That was just me saying I don’t think it’s right, and I didn’t have the literal time or energy to do a fuller critique. If so, I apologize for not choosing that more carefully; it was done quickly in between errands.

    Also; the discussion of feminism and autism took place on AutismVox, not my own blog, which is what I think you took from that. Again, my bad; just moving fast today.

    Cliff