New Theory About Autism and Genetics
November 11, 2008 by Kristina Chew, PhD
Filed under Health
“[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?
No no no no no. Baron-Cohen is the new Bettelheim, and the “extreme male brain” needs to join the “refrigerator mother” in the wastebasket of cute but rejected ideas.
Baron-Cohen is a charlatan for the most part, and I’m kinda surprised nobody has accused him of sexism for his implications that males are more adept than women to be engineers and “systemizers”. What a ridiculous word systemizer is.
I wonder how there possibly can be an “evolutionary tug of war” between genes from fathers and mothers. I’m sick of all of these sensational inconsistent theories regarding genes, when the researchers should be looking for the real genetic patterns that lead to autism in more than 1% of cases.
“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.”
Crespi and Badcock seem to have very little understanding of the conditions they refer to. They present extreme caricatures, to the point of being offensive.
Those with autism are also hypersensitive, and prone to depression. They/we are not just systematisers lacking empathy.
We don’t lack empathy. There is difficulty reading others’ social cues such as facial expressions and body language. But once aware of someone’s feelings or circumstances we are as compassionate as anyone else.
I hate to just say me too but that theory raises a lot of questions for me too.
Whether or not this theory pans out, I’m glad to see that there’s a new concept on the horizon that seems to be getting researchers excited.
I haven’t found the male/female theory to be true in our household either- there’s no doubt that both my children’s father and their stepfather are considerably more attuned to the “female” side, while I’m the one organizing and fixating on schedules etc.
It’s fascinating stuff though- I’ll be interested to see how it pans out in research.
Interesting study in relating Angelman’s Syndrome and Pradi-Willis Syndrome to autism and to genetic mutations in chromosome 15. The only problem is that both of these disorders are not autism syndromes, they are mental retardation syndromes with a small subgroup who share enough isolated secondary symptoms to qualify for an ASD diagnosis (As do most adult stroke patients). Neither of these genetic mental retardation syndromes were associated with ‘autism’ until the definition of ‘autism’ was expanded in 1987 and further weakened in 1994 when Kanners definition ‘A pervasive lack of responsiveness to other people’ was removed from diagnostic criteria and replaced by the vague, ambigous and subjective ‘Qualitiative impairment in social reciprocity’.
Kanner already explained how the first ‘autism epidemic’ occurred in the 1950’s:
http://neurodiversity.com/library_kanner_1965.html
For the true believer in Behavioral Genetics, the environment doesn’t exist and plays no role in etiology. Behavioral genetics has reported hundreds of specific genetic leads but has failed to identify any genetic mutation that ’causes’ autism. The candidate genes identified are nonspecific and are more strongly associated with mental retardation, specific language disorders and obsessive compulsive behaviors.
That is not say the genes play a role, and a significant role in etiolgy, but a growing number of researchers have already abandoned the polygenic theory in favor of gene environment interaction models that best integrate genetic research and environmental research.
The advancement in understanding autism causation is the vexing problem of heterogeneity and lack of specificty. The only consensus about etioly is that autism is ’caused’ by a disruption in early brain development and that for the majority of cases the timing of the disruption is prenatal.
Professor Rutter has explained this vexing problem in a You-Tube posting he gave earlier this year:
http://www.youtube.com/watch?v=0MVLH4B0tEU&feature=related
Lurker,
If you actually read Simon Baron-Cohen’s book The Essential Difference, you will see that he addresses accusations of “sexism” regarding his theory.
I don’t agree that Baron-Cohen is a fraud, “for the most part” or otherwise. He is one of the first researchers out there, at least to my knowledge, to suggest that Asperger’s Syndrome (and/or so-called “high-functioning” autism) is not a disability, but a difference (from 2000: http://www.geocities.com/CapitolHill/7138/lobby/disability.htm). His work is actually quite amazing.
I would not spend to much time on this one,as Baron=Cohen teachs at the university of Cambride and he does not seem to have any thing published sence 2000 so he had put out something. I myself think I thing it is so much bull. All this is a way to take you all down a diffent road . Autism has bee around sence the 1940s and the cured many things sence then or have a vaccine to keep fron getting othe things so why not autism.
Baron-Cohen’s work is grounded in the most pedantic adherence to the cold, unemotional scientific method, imaginable.
To accuse him of being a charlatan, is to question the whole basis of the scientific method.
He is also a deeply humane, and thoroughly decent man. (And lives just down the road from me….)
I suspect when psychologists use the term ‘empathy’, it is with a different meaning to the colloquial.
I think colloquially, we use it as a synonym of ‘compassion’.
RAJ, will you stop posting exactly the same blurb over and over again. We’ve all read it by now, and you chose to ignore most criticisms of your point of view (like, if this is the case then why is there such homogeneity, when all these non-autistic, autistic’s are subjected to the most minute social, psychological and neurological examinations – like those conducted by Baron-Cohen’s group?)
I wouldn’t go calling Baron-Cohen “inhumane” or any such nonsense, but to say that he is the fundamental pinnacle of impartial rationality is a big misted. His work absolutely lies on notions of gender essentialism that would the feminists contended years ago (that doesn’t mean I think he is “sexist”; just dropping bombs like that isn’t nuanced at all). And his premise of the social and the natural is too loaded with content for one to just cast away uncritically. Nothing against him personally, but his work needs to be seen critically. There have been some good discussions on this blog about the notions of autism and gender and Baron-Cohen; go through the search engine and see them.
But as to the actual topic of the thread… well, actually, a lot of criticisms are the same, but one has a far higher standard of proof than Baron-Cohen has to (or should have to) deal with, because you have to essentially attach a genetic binary to a gender binary. I think it’s bogus. I have reasons, but I suspect others will hit them, and I just don’t want to expend that energy. But that’s where my bets come down.
Cliff
Baron-Cohen adheres to “cold, unemotional scientific method” and his work is “amazing”? I couldn’t disagree with that more. His SQ/EQ tests are clearly biased towards the result he wants, without taking any sort of cultural context into consideration. (Plus, it relies mostly on self-reporting, which is extremely problematic.) Geeky, Western male does not equal the male prototype, and it does not equal the only way to be on the spectrum. Honestly, I think most students in my high school statistics class would have known better than to perceive SBC’s surveys as scientifically valid in any form. It amazes me that he’s given any scientific credibility at all. I appreciate his support of autism as acceptable difference, but that doesn’t erase his bad science with troubling social implications.
Heading over to your blog, Cliff…
I don’t buy into this “extreme male brain” stuff, given the all too ignored connection,of autism, and Klinefelter’s syndrome,but how would you explain families where a male sibling has autism, and a female sibling has childhood onset schizophrenia ?
I get the idea that some of you are Aspergerians,who advocate neurodiversity.The one thing I have noticed about these people,is that they seem to use Asperger’s as a standard to judge all other forms of autism by.If nothing else the immune anomolies,and disease,and the developmental disabilities that occur in autism,but not in Asperger’s are evidence enough the two should not be looked at equally.I can easily see where autism is a disability,and Asperger’s isn’t.
Would somebody please explain to me what is wrong with the “cold, unemotional scientific method” ? This almost makes you sound like those who say vaccines cause autism,because the research disproving it is “biased”,and the researchers were “paid off”,by the vaccine makers.
“RAJ, will you stop posting exactly the same blurb over and over again. We’ve all read it by now, and you chose to ignore most criticisms of your point of view (like, if this is the case then why is there such homogeneity, when all these non-autistic, autistic’s are subjected to the most minute social, psychological and neurological examinations – like those conducted by Baron-Cohen’s group?”)
Baron-Cohen’s theory and his autism qoutient test is a personality test not a test for a developmental disorder. You have never made a rational argument that this is not the case and have never answered the question, name one ”gene’ that causes autism.
You are one of the neurodiversity crowd that continues to trivialize a profound and for most, lifelong developmental handicapped.
When you argue you tend to disappear when you cannot make any cogent statement.
Youe arguments are simply go away I don’t agree with you.
“There have been some good discussions on this blog about the notions of autism and gender and Baron-Cohen”.
Baron-Cohen’s testestorone theory of causation is based on a high male to female ratio reported in autism. Many unrelted medical conditions also have a high male to female ratio, for example leprosy:
http://www.scielosp.org/scielo.php?pid=S0042-96862001000400007&script=sci_arttext
Time for Baron-Cohen to develop a testesterone theory for leprosy.
RAJ,
*sigh* Where to start…
Look there’s a bit more to SBC than EQ.
The research projects at ARC, involve a little more than asking Aspies to fill in questionnaires.
There are vaults of neurological scans, 2D, 3D, 4D. There are countless national and international collaborations on all areas of ASCs, and much more – all of these things lead them to the conclusion that there is a seemless spectrum.
You might not like it, but I’m just as much on the spectrum as someone non-verbal and reliant on 24 hour care.
It took me a while to except that people like that are my kith and kin.
Now it’s your turn to face up to the facts.
Kanner isn’t the be-all and end-all of autism; there’s been a lot of water under the bridge since then.
“I get the idea that some of you are Aspergerians,who advocate neurodiversity”
If you’re referring to me, you’re actually incorrect. I’m HFA (speech delay, traditional symptoms of autism in childhood, whole nine yards) advocating neurodiversity. So there’s that.
And I seem to be in this funny position of arguing against Baron-Cohen and being neurodiversity, so I wouldn’t equate them. I basically do disagree with most counts with RAJ (for one, Baron-Cohen had a lot more content as to male/female brain than the ratios, but that’s not to say that content wasn’t refutable or problematic), as well. Especially in the whole bit about “name a single gene”, because it’s not necessary for that argument for there to be a “single gene” or even a genetic causation theory for a neurodiversity view to hold.
Cliff
*The one thing I have noticed about these people,is that they seem to use Asperger’s as a standard to judge all other forms of autism by.*
I’m not sure where that came from, but I’ll answer for me. I’ve got 13 year old triplets, all on the spectrum from one end to the other. One daughter you’d have to really know what you’re looking for to see any “autistic” traits now, my son is aggressive and self-injurious enough that he lives in a group home where he can get more than one-to-one care, and my other daughter is somewhere in the middle. My concept of autism covers all of my kids- it’s certainly not restricted to Asperger’s, or any one concept. I’m a huge fan of science (always have been), and that’s stood me in good stead while trying to help my kids. 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.
Neither this or extreme male brain make any sense to me. What if autism comes from your mom anyway? If her side ‘won’ shouldn’t I then be schizophrenic instead? Am I reading this wrong?
Nevermind the giant overlaps and similarities I see between me and my mom and brother, and my schizophrenic sister-in-law. Not opposites at all.
I never thought of hypersensitivity to mood etc. as an indication that you lean in any sort of direction at all. I’ve seen all kinds of people (NT, schizophrenic, autistic) who are very sensitive to mood and very emotional, and just as many who are not.
I am diagnosed with both autism and schizophrenia. So does this mean I am well-balanced? Or bipolar?
It’s interesting reading, but what about people who have both a psych diagnosis AND an autism spectrum diagnosis?
Also, aren’t gender based disabilities SO 1890s? Hysteria, anyone?
@Jen,
the spectrum is quite a spectrum—
tinted,
I’d say “well-balanced,” but that’s my view of things—
“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
That’s one of the dumbest things I’ve ever read. And I’ve read the Hannah Poling thread lately.
“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.
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.)
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???
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.
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.
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.
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.
@Hala—-
hi first—–and thanks for that 2nd paragraph especially…….
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!
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.
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)
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