Discussão sobre Diagnostico Pre Natal

This morning’s Today Progamme on BBC Radio 4 carries a short segment on the possibility of a prenatal test for autism. This was prompted by an article by Professor Simon Baron-Cohen on the BBC website which raised concerns about the possible negative consequences of prenatal testing.

Baron-Cohen is a proponent of the male brain theory of autism. This is based on two key concepts. First, in his book, The Essential Difference, Baron-Cohen puts forward the argument that men tend to be more capable when dealing with objects and relationships between objects. They are systemizers. Women tend to be more capable when dealing with people and relationships between people. They are empathizers. Baron-Cohen proposes that this is the result of differences in the structure and organization of male and female brains that is related to differential exposure to testosterone in the womb.

Secondly, it can be argued that autism is a manifestation of the extreme male brain. This seems to fit the picture of object oriented autistics who struggle with social skills but are able mathematicians and engineers. Baron-Cohen is open to the idea that this is an inherited genetic tendency. See for example his theory of assortative mating. But he also claims to have found

a link between higher levels of the male hormone testosterone in the amniotic fluid surrounding a foetus and autistic traits when the child was eight.

And animal studies have shown foetal testosterone levels influence brain development, masculinising it.

Baron-Cohen’s theories raise as many questions as they do answers and have attracted both supporters and critics within academia and the autism community. But Baron-Cohen has started this debate, not to promote his theories, but to consider the ethical implications, if they are correct, for future pre-natal testing for autism. What if there is a connection between the genes for autism and the genes for mathematics?

If it was used to ‘prevent’ autism, with doctors advising mothers to consider termination of the pregnancy if their baby tested ‘positive’, what else would be lost in reducing the number of children born with autism? Would we also reduce the number of future great mathematicians, for example?

Of course pre-natal testing need not lead to abortion. We could use drugs to regulate the level of testosterone in the womb. But Baron-Cohen warns

If reducing the testosterone in a foetus helped that baby’s future social development, we would all be delighted. But what if such a treatment reduced that baby’s future ability to attend to details, and to understand systematic information like maths?

Caution is needed before scientists embrace prenatal testing so that we do not inadvertently repeat the history of eugenics or inadvertently ‘cure’ not just autism but the associated talents that are not in need of treatment.

While it would be unfair to judge Baron-Cohen’s position on the evidence of an opinion piece that was written with the express intention of provoking a debate, this article did set a few alarm bells ringing, if only because it was an uncomfortable reminder of my own position in the not so distant past. There are strong echoes of the arguments that were explored in Elizabeth Moon’s novel, The Speed of Dark. In a not so distant future pre-natal testing has all but eliminated autism from the planet. There are still autistic adults who enjoy a relatively privileged, if somewhat restricted existence working for a corporation that exploits their systemizing skills while making accommodations for their autism. A central question in the book revolves around the company’s quest to find a cure that will do away with the need for these expensive accommodations while preserving the systemizing talents of its workforce. If you have not read it I can recommend it. But be warned. Some autistic people cried when they read the ending.

It seems to me that Baron-Cohen comes close to suggesting that we should only cure autism if we can be sure of preserving its “associated talents.” And the other side of that argument is that we should preserve autistics because of their value to society and not because of their intrinsic worth as human beings. I may be doing Baron-Cohen an injustice here. He does refer to the greater danger of eugenics as well.

It is significant that in the radio interview it is the interviewer who raises the eugenic issue, chiding Baron-Cohen for offering a utilitarian rather than an ethical opposition to genetic testing and Baron-Cohen agrees with him. He is at pains to emphasize that even though pre-natal tests may be 5 years away the moral and ethical dimensions are complex and a debate needs to take place now and not be hurried through when the medical technology is a done deed.

In that context the Today Programme made an interesting choice of protagonist to balance Baron-Cohen’s point of view. Professor Joy Delhanty of University college may be familiar to some readers. I blogged about her attempt to offer pre-implantatation genetic diagnosis to parents at risk of having another autistic child. Lacking a genetic test for autism, she proposed to screen for gender and only implant female embryos that were statistically less likely to be autistic. This was not mentioned today. But she did suggest that Baron-Cohen’s fear that a pre-natal test would be used to screen all autistic traits out of the population was misplaced. She insisted that pe-natal testing would only be offered to people who were already significantly at risk of having another autistic child or to family members with a strong genetic risk. The implicit assumption was that only severely autistic traits would be screened out and talented aspies would continue to be born and that this need not concern medical ethicists. Baron-Cohen did not sound convinced.

I know that some people have questioned Baron-Cohen’s judgement in raising this issue when there is no immediate pressing concern. But Delhanty’s misapprehension of the complexity of the issues surrounding autism, alongside her enthusiasm to implement the latest developments in genetics without regard for the broader societal implications suggests that Baron-Cohen may well have done us all a service by raising this issue now.

Further reading

The discussion of Baron-Cohen’s original piece for the BBC is here. It repays careful reading. The comments perfectly illustrate the subtleties of this question and it is heartening that so many parents and autistic adults are able to express these subtleties so cogently.

NAS Media Response

Blogs

Kristina Chew at Autism Change

At the Rim

Cat in a Dog’s World (added Jan 8th at 2.15pm)



January 8th, 2009 Posted by Mike | autism advocacy, genetic testing | 25 comments

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25 Responses to “Genetic test for autism - how close is “close?””
1.Comment by laurentius-rex | January 8th, 2009

SBC is a sadly deluded and obsessed man who ought to know better.

I was deeply moved recently by an exhibition in Coventry Cathedral around the diary of Ann Frank.

This brought home so very clearly where it all ends when difference is devalued and dehumanised. First they came for the Jews etc.. etc…

I do deeply fear for the future of neurodiversity as a human trait.

First they will select against autism, next skin colour, next social class, and when they have done with that they will fight each other over the spoils as the new master race finds reason to despise there identical neighbour.

SBC of all people should realise where it all leads, because if one reads the narrative of science it has not changed all that much since the 1930’s. We are still spoken of and written about in subhuman terms, and if we are not actively excluded from the discourse we are passively excluded because of our economic and social disadvantage compared to the powerful, and this is a power discourse, a have and have nots discourse. As the recession deepens, society looks for scapegoats and disposable people. This winter thousands of pensioners will die before the government does anything realistic about it, that is all to there convenience.

I dare say it is not too good for the subway dwellers either, more burdensome and disposable people.

Where does it end?

Do I have a right to the resources of this planet because I am an active participant in society, the economy or intellectual debate, or simply because I live and breathe yet?

I deserve life because I am here, not because of any inherent merit and this is the problem with SBC’s discourse isn’t it. He argues from an untenable position that we would be losing mathematicians, and if you ain’t a mathematician (or whatever other arbitrary criterion of citizenship of the human race is evinced, then you ain’t worthy then.

2.Comment by CS | January 8th, 2009

“First they came for the Jews etc.. etc…”

Larry, that is a well quoted phrase, but it isn’t true and really unfair to the disabled. The third Reich first came for the developmentally disabled and schizophrenic, they first came for you and me!

I’m not sure who it was that penned that phrase, but either they were ignorant or they were purposely trying to diminish the history of disabled people and the systemic murder of the disabled under the Third Reich.

3.Comment by CS | January 8th, 2009

In fact, the gas chambers were first used and the methods were perfected on the disabled before they were used on the Jews.

There is a lot of good information on the US Holocaust Museum Website and it should be mandatory that all autistics find out about this history, not saying you aren’t aware of it, just that those that were shot, gassed, starved, medically experimented on in German and German occupied institutions have never had their stories told to the mainstream through popular media, their families never received restitution and no one chased down the doctors and nurses with the exception of a few.

That phrase should be changed to “first they came for the different and disabled, then they came for the Jews…”

4.Comment by RAJ | January 8th, 2009

SBC’s conjecture about assortive mating has been debunked:

http://www.ncbi.nlm.nih.gov/pubmed/17404134?

There is no genetic test for autism, in fact, no gene for ‘autism’ has ever been identified. There are genetic mental retardation syndromes (Down’s Syndrome, Fragile X Retts Sydrome) that have weak associations with ‘autism’. A small subgroup in each of these mental retardation syndromes also have enough secondary isolated symptoms that are shared with other neurologically impaired conditions (including adult stroke patients) to qualify for an ASD diagnosis.

SBC doesn’t comprehend the difference between a developmental handicap and normal traits that are continously distributed in a Bell Curve throughout the general population.

Good research taken from well designed studies have now estimated that up 10% of the general population possess ‘autistic-like’ traits.

If SBC had his way the prevelance of ASD’s would continue to climb up to at least 10% the entire population.

5.Comment by Socrates | January 8th, 2009

SBC doesn’t comprehend the difference between a developmental handicap and normal traits that are continously distributed in a Bell Curve throughout the general population.

I feel fairly confident that if your point has any validity, BC would have little trouble comprehending it.

Secondly, that study… it’s pants. Self-Reported AQ scores? Please. 6 hours with BC and colleagues constitutes a screening for autistic traits, not filling in an AQ.

I’m all for iconoclastic rhetoric but you’re attacking him with a cocktail stick when you need sledgehammer.

Have you ever read any of his team’s studies? Don’t skip the boring ‘Methodology’ section. That’s where it happens.

I deserve life because I am here, not because of any inherent merit and this is the problem with SBC’s discourse isn’t it. He argues from an untenable position that we would be losing mathematicians, and if you ain’t a mathematician (or whatever other arbitrary criterion of citizenship of the human race is evinced, then you ain’t worthy then.

That’s more like it L. That’s gonna be sore in the morning.

Perhaps though it was a rhetorical device chosen to make an impact on sleepy worker-drones. The point would not be lost on him. He has a close relative with a significant LD.

6.Comment by laurentius-rex | January 8th, 2009

CS that is true of course that the developmentally disabled were the first to be compulsorily exterminated under the T4 program, incidentally just as there were Gentiles who sheltered Jews there were Doctors who would not co-operate with T4 Dr Creutzfeld of CJD fame being one of them.

The phrase may not be accurate as such, I believe it was coined by a Pastor, but for the most part German citizens were full of antisemitic prejudice and looked the other way because it was not them.

It is because developmentally disabled people were the first to go that I feel so insecure.

7.Comment by laurentius-rex | January 8th, 2009

RAJ you infuriatingly manage to be both right and wrong.

Autism is genetic, but it is also not monoglot.

Blue eyes are genetic, but not everyone with Blue eyes has a significant number of matching genes, heterogeneity and diversity.

Autism is of course a very broad social category for a range of similarly appearing individuals, but it is not a disease

Artistry is of course a very broad social category for a range of similarly talented individuals, but of course artistry expresses in vastly different ways, and ultimately it is genetically configured to a large extent.

Genetics is never the whole answer, but neither are the common alternative proposed by those who have an overriding need to ignore genetics in order to validate there somewhat flawed hypotheses.

8.Comment by Mike | January 8th, 2009

Regarding Pastor Martin Niemöller and his poem, there are many different versions which are the subject of an interesting Wikipedia article. The meaning of the poem is quite clear. The Third Reich initially scapegoated unpopular minorities whose fate was ignored by the lay and clerical intelligentsia in Germany. They did not speak up for these victims and when they eventually became victims there was nobody left to speak up for them. Niemöller knew this from experience. He began as a nazi supporter and ended up in Dachau.

For myself, I am always wary of invoking the spectre of fascism in any discussion unless there are clear and comparable historical parallels. I suppose this goes back to my early days in the socialist movement (circa 1968) when we had to guard against the tendency to accuse anyone who opposed us of being a fascist pig.

9.Comment by laurentius-rex | January 9th, 2009

But anyone who opposes me is a fascist pig, at least they were back in my early days

Godwins law of course, but one only has to see how the Nazi’s prevailed in Germany, in what was apparantly a democratic society to see the dangers.

To quote Berthold Brecht (who nevertheless never wrote half of what is attributed to him, having farmed his work out to subordinates he chose to call equals)

“The bitch that bore him is in heat again”

10.Comment by David Andrews M. Ed. (Distinction) | January 9th, 2009

“… developmental handicap and normal traits that are continously distributed in a Bell Curve throughout the general population.”

Only because that is how the tests define it.

Doesn’t mean that it happens that way in nature.

As I have reason to know.

11.Comment by CS | January 9th, 2009

“For myself, I am always wary of invoking the spectre of fascism in any discussion unless there are clear and comparable historical parallels.”

The T4 euthanasia program began in universities as a discussion on eugenics and the merits of certain people and their “cost” to society vs. their benefits. It later led to the euthanasia of hundreds of thousands of people. I’ve read just about every written historical record publically available on the euthanasia program as well as every racial science book I could get my hands on. I’ve read the camp transcripts that have been translated into English. Those that were still in German I’ve had translated for me.

The parallel here is the discussion, which takes the form of similar arguments. If one were to take the discussion, exclude autism, and add Jew, there would be an outrage. But here, he is wary of invoking history. Why is that Mike? Is it because we assume SBC isn’t a Nazi? That’s true, but the entire discussion on the BBC should have referenced history, instead it ignored it. I think it is wrong to ignore the history. How would SBC’s form of eugenics differ from the Third Reich’s? If you don’t want the parallel’s made, you must differentiate it. I’d like to hear Mike how the ends would be different. The means and the timing of death would certainly be different. Perhaps this is a kinder and gentler form of eugenics?

12.Comment by CS | January 9th, 2009

This appears on the Center for Holocaust & Genocide Studies at the University of Minnesota. In this text, the writer also draws the same parallels as I do and the same questions.

The term “euthanasia” (the beautiful death) was the Nazis’ way of preventing criticism of their inhuman attitude toward human worth! Fifty years ago this term represented a separation of fellow human beings by methods we today would find inhuman and unacceptable for a civilized society.

Today the term “euthanasia” often appears in the context of the mercy killing discussion. Does this create some warning signals related to the moral foundation of our society? Where will the present discussion about “euthanasia” lead our society and us in the twenty-first century when the historic use of the term is in such a way disclosed, as it is by this exhibition.

In the beginning of the twenty-first century doctors, health personnel, lawyers and the common man are discussing the separation of genetic disabilities before the disabled child is born.

This raises questions related to the complicated issues around abortion. With our present abortion laws the separation of the “inferior” beings can occur antiseptically and cleanly. When this is used as the only criteria for abortion the question must be raised as to societal value of some human life versus other. Concealed by the term “abortion on medical grounds”, a human being - though with disabilities - is not born.

The common wish behind the “euthanasia program” of the Nazis fifty years ago was “only to establish a future society where there should be no people with a genetic disability.”

Is the future society that the public health sector in 2001 is preparing for based on the same idea?

A future society where fellow human beings with genetic disabilities no longer exist.
This exhibition raises critical questions that we must discuss and debate as they relate to our history and our future:

Will the absence of people with disabilities in the future make our society more humane and civilised? Or will the pure absence of these fellow human beings make our common future more inhuman?

We would like you to think about this question. It is important for all of us. It is important for what kind of human beings we want to be in the future.

- Tor Oskar Jorgensen

13.Comment by Socrates | January 9th, 2009

I’ve tried hard over the past few days, as I’ve been trying to write a worthy contribution to this debate, to separate the attitudes of the Nazi’s to some of the attitudes to autism we are seeing.

I have failed.

I’ve also failed to convince myself that there’s a difference, save in degree, between Nazi post-natal screening and modern, friendly, clinical pre-natal selection.

Anyone care to try and change my mind?

And on what foundation does belief in the sanctity of human life rest, save self-preservation?

14.Comment by Mike | January 9th, 2009

CS

I think your argument is of the “slippery slope” variety. You seem to be saying, “We have heard these views before and look where they led. We do not want to go there again.” You compare the present discussions about the ethical implications of a genetic test for autism, if it were to become available, with the discussions about eugenics that were widespread in the twentieth century prior to the triumph of nazism.

You reduce history to a simple case of cause and effect. Eugenics debates led to the nazi T4 programme. Debating the ethics of a genetic test for autism will lead to its modern equivalent. Therefore what is the difference between Baron-Cohen’s eugenics and Hitler’s?

Short answer: plenty.

Long answer: Baron-Cohen is not advocating eugenics. He believes a genetic test for autism is inevitable and does not want it used without a rigorous debate about the ethical implications. Delhanty, with whom I disagree, is not advocating eugenics either.

The T4 programme was not the result of an academic debate about Eugenics. It was the result of criminal negligence by the forces of social democracy in Germany in allowing the nazis to seize power. Similar debates occurred all over the world. They helped to sanction institutional atrocities against the disabled in many countries, but nothing on the scale of the nazi programme. Even within Germany the programme had its critics and its scope was curtailed both by the pressure of public opinion and the practicalities of war.

Is the experience of T4 of any use in the current situation? It is a warning of where things might lead in a worst case scenario. But there are a myriad of countervailing tendencies that predispose against a similar outcome. At present the priority is to debate with academics and clinicians about the assumptions about autism and disability that underpin their research and clinical practice. Accusing them either of moral equivalence with fascism or of being proto-fascists does not make for a productive debate.

15.Comment by RAJ | January 10th, 2009

Socrates:

SBC contributes nothing to the debate about autism. He is among those who posit a single cause theory about ‘autism’. He adds nothing more to the debate than any other single cause true believer including the vaccine causes autism theorists which has no more basis in fact than SBC’s extreme male brain theory.

He has never, and never attempted, to explain mental retardation, seizures or decades of studies showing that unfavorable events in the pre peri and neonatal period are associated with ‘autism’. High male female ratios are commonly reported in many unrelated conditions, including leprosy.

SBC’s debate about genetic testing in autism would carry a little more weight if he could identify any genetic finding that ’causes’ autism instead of speculating that ‘autism’ is a genetic condition, because we believe it is so according to the extreme malerain theory.

Perhaps you could answer the question… name one genetic variants that ’causes’ and is specific to autism. There are none although like most conditions, autism is a complex disorder with many contributing factors but no good evidence that it is genetically transmitted anymore than an individual with low copy numbers of the. CCL3L1 gene renders an individual highly susecptable to infection after exposure to HIV-1 virus.

So far, no gene for autism has ever been identified and I challenge you to name one.

16.Comment by laurentius-rex | January 10th, 2009

There is no single gene for the categories “Artist” or “Scientist” either each condition is contingent upon multiple factors because they are a human category not a natural one, in essence the reason why a single gene or cause will not be found is because “Autism” is also a human category, and as such is not “watertight” it leaks all over the place because that which is called autism is the confluence of many rivers and depending where you stand in the lake you might feel the influence and currents of any one of them more than another.

Therefore those who pin the argument for autistics rights on the outcome of a science which can describe us in a positive way are on a hiding to nothing as the rememdies are societal and to hope for a scientific justification is to bend science according to ones will, which of course is what all scientists and philosophers do anyway.

Autism finds itself wholly within the social model of disability for an explanation of how it is studied, valued, devalued or otherwise debated.

17.Comment by CS | January 10th, 2009

“So far, no gene for autism has ever been identified and I challenge you to name one.”

http://www.nih.gov/news/health/jan2008/nimh-10.htm

Harvard researchers have discovered half a dozen new genes involved in autism :http://www.msnbc.msn.com/id/25625510/

For those that need to see the differences to believe them, here some good sites

http://aatb.timberlakepublishing.com/files/Research%20Takes%20Braines%20The%20Autism%20Tissue%20Program%20-%20Jane%20Pickett.pdf

http://aut.sagepub.com/cgi/reprint/11/6/557.pdf

There is only minute funding for autism research and gene research is relatively new with very primitive methods and slow and methodical techniques. However, more powerful computer scans are becoming available, at great expense because of the cost to universities. They just discovered some genes involved in schizophrenia for the first time recently. Because it has been difficult to search the entire genome of a person, scientists have been restricted to just looking in certain areas or neighborhoods. These new scans should allow them the ability to search an entire “continent” of the brain more efficiently.

18.Comment by Socrates | January 10th, 2009

Perhaps you could answer the question… name one genetic variants that ’causes’ and is specific to autism. There are none although like most conditions, autism is a complex disorder with many contributing factors but no good evidence that it is genetically transmitted anymore than an individual with low copy numbers of the. CCL3L1 gene renders an individual highly susecptable to infection after exposure to HIV-1 virus.

We’ve had this discussion before and I pointed you towards what I felt was a paper showing you just that. You interpreted their results differently, and as neither of us are geneticists there seems little point pursuing the argument.

Mike, am I the only person around here that’s had the experience of polite dinner parties where crypto-eugenicist diatribes spew forth from the mouths of the upper-middle classes?

I live in one of the most conservative areas of the country and I can assure you that the spirit of T4 is alive and well and thriving in the hearts of those that feel they’re morally, socially and genetically superior. Often people with a measure of influence and power.

The liberal enclave of Cambridge University may be an isolated island of humanity; their views may be shared by a significant proportion of the population but these views are not universal, and may not even be in the majority.

19.Comment by CS | January 10th, 2009

“Therefore those who pin the argument for autistics rights on the outcome of a science which can describe us in a positive way are on a hiding to nothing as the rememdies are societal and to hope for a scientific justification is to bend science according to ones will, which of course is what all scientists and philosophers do anyway.”

Very interesting. I never though of it before in such a way.

20.Comment by Socrates | January 10th, 2009

A comment on SBC BBC piece (Some people in Cambridge however, are not so liberal nor respectful):

The test and the treatment if available should be adapted without any reservations. Autism is a disability and apart from a few autistic savants majority of autistics are not productive and are a burden to the family and the society….

My wife (a doctor) had to devote all her time to his educational needs. Our son’s autism has affected our family in so many ways and we don’t realize the things that we miss unless we start comparing with others with normal children. This test is a great way forward and it has to be taken up as a top priority as the incidence of autism is on the rise.

Rkrao Rebbapragada, Cambridge

“Burden on the family and the society” - More T4 and marching east than Old Posh University and the Guardian, don’t you think?

21.Comment by Mike | January 10th, 2009

Socrates,
I am not denying that such views exist, nor that they are held by people of wealth and influence. But ideas only have an effect when people go and do something about them. The T4 programme was about killing newborn babies with birth defects. Then they moved on to killing older children and adults in institutions. Nobody is advocating that at the moment. We need a debate about the limits of genetic screening and the ethical constraints that it requires. Raising the spectre of a holocaust against disabled people does not advance that debate. It says in effect that the debate is over and anybody who does not agree with us is no better than the nazis.

22.Comment by Socrates | January 10th, 2009

I shall try hard to take your points onboard.

23.Comment by Mike | January 11th, 2009

Socrates, I appreciate that. As a neurotypical it is probably a lot easier for me to be sanguine about this whole business than it is for people with a direct involvement like yourself, Larry and CS.

24.Comment by laurentius-rex | January 11th, 2009

Mike, who says they are not advocating “that” at the moment. Who says they are not actually doing it via the back door in our prisons and psychiatric hospitals, where lack of proper regard for treatment and safety leads to an early death.

There are many who think it, but won’t state it outright, that some categories of people are disposable and wouldn’t be missed.

Remembering the Holocaust because it happened is not enough, remembering it, so it might not happen again is more important.

The brutality of the Nazi’s is with us every day, after these monsters did not come from nowhere when Hitler came to power, they were ready in the wings, with popular sentiments and prejudices to do the work when it came.

When you consider that there are debates over whether torture should be legitimised in certain cases, then you begin to wonder where we are going.