Rett reversal and neurodiversity

Rett Syndrome is unusual amongst autistic spectrum disorders for two reasons

  1. It is far more common in girls than in boys.
  2. We know what causes it – a mutation of the gene MECP2 on the X-chromosome.

Because it is genetic, Rett parents have not been chasing cures like some autism parents. This has made Rett syndrome a relatively quack free zone, so far. On Thursday a team of researchers led by Dr. Bird of the University of Edinburgh announced that they had successfully activated the MECP2 gene in mice using Tamoxifen and that this had led to a reversal of Rett like symptoms and an improvement in brain function. Kev and Kassiane have both blogged their concerns that the purveyors of autism quackery will try to exploit this and I share their concerns. Fortunately Dr. Bird is not only a very good scientist. He is also an able communicator. The Rett Syndrome Research Foundation have published a video of Dr. Bird talking about this research in which he says, 

Tamoxifen only works in this context because the mice have been set up to respond to it by activating the MECP2 gene. But in order to get them to do that it was necessary to alter the struture of the gene in specific ways. It would have absolutely no effect in humans.

So, why all the fuss?

Firstly, this confirms the work of Dr. Huda Zoghbi who discovered the link between MECP2 and Rett Syndrome in 1999. I find this particularly satisfying because it was Dr. Bird who discovered the MECP2 gene in 1990. More importantly it suggests that if scientists can find out how to correct the mutation in the MECP2 gene in humans it may be possible to reverse the symptoms of Rett Syndrome. Girls have two copies of the X-chromosome, one from each parent. Research suggests that most of the mutations are inherited from the father. If scientists could find a way to inactivate the chromosome carrying the mutated gene and activate the normal back up would it work like the mouse experiment? That is the hope and the expectation expressed by Dr. Bird. It is still a long way off. The paper concludes that

The experiments do not suggest an immediate therapeutic approach to RTT, but they establish the principle of reversability in a mouse model and therefore raise the possibility  that neurological defects seen in this and related human disorders are not irrevocable.

Autism Acceptance and Neurodiversity

Rett parents have long practised acceptance out of necessity and got on with the job of seeking those treatments and therapies that help their children. In the broader autism movement there have been similar arguments from necessity. Time spent seeking a non-existent cure is lost time. It is much better to get on with the job of relating to your autistic child and finding ways to help them. The quest for a normal child can impede that relationship and the child may feel your disappointment and be affected by it. The most terrible thing my son ever said to me was, “I wish I could have been the little boy you never had.” There is every possibility that non-verbal, apparently low functioning autistic children may harbour similar thoughts. So autism acceptance may be therapeutic, both for children and their caregivers

There are also arguments from diversity. These have arisen from within the autistic community, based on the concept of neurodiversity. Autism is seen, not as a defective way of being, but as a different way of being. There are autistic strengths as well as weaknesses. But science continues to see autism purely in terms of deficit. We should seek to celebrate diversity instead of trying to stifle it.

Some would go further and argue that autism is neither a medical nor a scientific phenomenon. Rather it is a social construct with a history that is open to deconstruction and reinterpretation. Larry Arnold discusses these ideas on his blog, most recently in his entry Autism, it’s not what you think, it’s how you do.  

The ideas of neurodiversity speak to a wider audience than just parents. Though parents like myself have been persuaded by their arguments. Autistic adults are campaigning over human rights, not just for themselves but on behalf of autistics who are subject to questionable treatment in schools and institutions. Clinicians and researchers are being encouraged to move away from a disease model of autism and to start from a position of respect for the autistic condition. Autism organizations are being asked to take account of the opinions of autistic people and to include autistic people in their governing bodies. The National Autistic Society has made great strides in this respect. The page on their website entitled “Is there a cure?” begins with this quote from Joshua Muggleton, an autisic teen.

 “We are not born to suffer. We are born to thrive. If you live in a dry area and your garden receives little water, you plant plants which like dry soil. But when you are given a plant that likes wet soil, you don’t kill it, you water it, you spend one of your 1440 minutes each day watering that plant. Because you know, that given the right care, that little bit of effort can produce spectacular blooms. And so it should be with children like us.”

The page ends like this.

Although this page has been written primarily for the parents of newly-diagnosed children, it may be helpful to note the viewpoints of some adults with autistic spectrum disorders. There is a growing movement amongst autism activists who don’t think in terms of ‘curing’ a ‘disorder’ but instead of celebrating difference. Please take time to read their viewpoints below.

It then links to stories about the Autistic Liberation Front, to Autistics.org, Neurodiversity.com and Don’t Mourn For Us.  Whenever I get impatient with how slowly the NAS is moving I return to that page before turning to Michelle Dawson’s blog that documents the uphill battle with Canadian autism advocates who see normalization as the only option for all autistics whether they want it or not.

Is our position under threat?

Now that there is a real possibility of a cure for Rett Syndrome some time in the future, will it undermine the movement for autism acceptance and encourage those whose aim is normalization? Some will certainly see it that way. But in the short to medium term I predict that it will increase the tension between organizations like Autism Speaks that are funding research into genetic causes for autism and those like NAA and Safe Minds who think they already know the cause and the cure and are only interested in research that confirms their prejudices. 

Neurodiversity has  nothing to fear from sound research like Dr Bird’s. It helps to clarify our understanding of autism and adds to our understanding of neurology. Rett itself is a spectrum condition. Kerr et al  have identified both strengths and weaknesses in Rett Syndrome and discuss the complexity of the symptom mix. Rett Syndrome has always seemed a very atypical pervasive developmental disorder. Whereas most PDDs are diagnosed on the basis of behaviour, Rett has distinct physical symptoms. These can be very distressing and potentially life threatening. I see no contradiction between wanting to relieve those symptoms and valuing diversity.

Part of the problem is that a lot of our thinking about neurodiversity has been shaped by our opposition to those who have sought to demonize autism and to eradicate it by any means necessary. Autism Diva has compared their position with the more positive attitude of Rett parents prior to Dr Bird’s research.  And now there is hope for a possible cure they are not crying out to Cure Rett’s Now! In a video of parental responses one father expressed a hope that he might hear his daughter speak before he died, even if he had to wait until he was eighty.

Dr. Bird’s research raises important questions about getting the balance right when discussing treatments and cures in the context of respect for neurodiversity. It is a challenge, not a threat, and one that I welcome.

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26 thoughts on “Rett reversal and neurodiversity

  1. Dr. Bird’s research raises important questions about getting the balance right when discussing treatments and cures in the context of respect for neurodiversity.

    A wonderful, well-intentioned, and positive challenge that allows everyone to win.

  2. Dr. Bird’s research raises important questions about getting the balance right when discussing treatments and cures in the context of respect for neurodiversity.

    Nicely said Mike and great post.

  3. Well, that’s what I had in mind :-)

    The important point is that we have had to spend a lot of time and effort responding to the PR spin of the mercury mafia. Now that they are basically stuffed by the evidence and destined to become a sect with declining influence it is time to address the issues raised by real science. Some of this science will be inspired. Some of it will be plain wrong. But it will be real science and as such it will merit serious consideration.

  4. Nicely written post. The Rhett parents for the most part would not want to risk their children’s lives in pursuit of a cure, that’s comforting. I think Kassiane agreed that “fixing” the Rhett girls to the point where they could breathe efficiently/sufficiently would be a good thing, and I think she pointed out that they have seizures that they (including Kassiane, no doubt) would be happy to live without.

    I can’t see any “neurodiversity” advocates protesting further, cautious research toward a cure for the scary parts of Rett, though I could be wrong, ultimately it becomes the parents’ decision as far as minor’s go, all we can do is hope that the parents will take a cautious approach to curing or treating Rett or any other disorder, and to approach a cure with a lack of hatred for the disorder, and lots of love and respect for the person in need of treatment(s).

  5. I’m all in favor of fixing the praxis problems in Rett, and the autonomic crap. And of course the life threatening seizures. Found a way to get rid of those and make my hands work consistantly? SIGN ME UP!

    UNLESS

    the sacrifice is the person who I am.

    But praxis doesn’t shape who I am. It just shapes what people see & what I can do. There’s a big difference. There’s an even bigger difference for girls with classical Rett who have more intense movement problems than I do–many are far less ‘autistic’ than I am, but with movement problems like woah.

  6. Wow, you’re a good writer Mike!
    I think that the main issue now will be to change the ‘devastation/empty shell’ model of autism that is so prevalent, seek better education for autistic children and appropriate services for autistic adults. To hell with the mercury nonsense.

  7. I second (third, fourth, fifth?) the praise for a well stated point of view. We need to not let ideas polarize us into overlooking the value that can be found in a balanced perspective.

  8. Hi Mike

    That was a well written post, cautiously balanced, but – correct me if i am wrong – betrayed a certain trepidation about what science hath brought to the table now. What if … future research actually allows for changing gene expressions in Rett, and ameliorating many of the “diversities” that define the “diversity”. Will they remain true neurodiverse? And autism; they seem to be getting there, the gen(i)e may soon come out of the bottle. And children may be “treated” to become less and less diverse ( but not to worry, the NT spectrum is also one big neurodiverse place – just because they do not hand flap or spin things around does not mean they are not diverse). Is that good or bad?

    Ajai

  9. Hi Ajai
    My “trepidations,” about science are those shared by many scientists. For example Morton Gernsbacher is a leading psychologist in the US who asks searching questions about the assumptions that fellow psychologists make in relation to autism. This has led her to question the assumption that autistics lack a theory of mind (ToM).

    Meanwhile researchers like Ramachandran are trying to link differences in mirror neurons in autistics to the aforementioned deficit in ToM. In a lab somewhere scientists are probably trying to identify the genes that code for that difference in mirror neurons and I am sure that one day they will succeed.

    Another set of researchers may well come up with a way to correct the genetic difference. But what will it achieve if Morton Gernsbacher is right and Baron-Cohen is wrong about ToM?

    That is one of the reasons why ethics committees and review boards are so much a part of the scientific world. Being able to do something does not automatically mean that you should be allowed to do it. Attempting to alter diversities may not necessarily ameliorate them.

    I am not certain what your point is about NT diversity. It seems as if you are saying that there is so much diversity in human life that we do not need the additional diversity of the autistic spectrum. But who is to say what is and is not acceptable within the boundaries of human diversity?

    If we are to celebrate diversity and overcome adversity we have to be sensitive to the ever changing boundary between those two concepts.

  10. Ajai,

    I’m not sure that science had brought all that much to the table as far as “reversing” Rett syndrome in humans goes. As a result, there is little reason for trepidation – except for the concern that some “autism practitioners” will fail to read the article (or will read it and not understand it) and start treating girls with Tamoxifen for Rett syndrome.

    Don’t get me wrong – this is a great leap forward in our understanding of the genetic regulation of Rett syndrome and neurodevelopment in general. It showed that – in mice, at least – neurodevelopment that should have occurred in infancy could be triggered in adulthood.

    Of course, the researchers still need to figure out why about half of the mice died after their MECP2 gene was “turned on”. A bit concerning, that.

    Genetic therapy is a very exciting field of research right now, but it is still a long way from treating children with Rett syndrome – or any neurodevelopmental disorder.

    Until it can, we will have to find a way to accomodate all of the various types of people, whatever their abilities or disabilities. That, I believe, is the major thrust behind the neurodiversity movement: to encourage the acceptance of people with differing brain functions.

    It seems a bit premature to discuss the ethics of “treating” autism or Rett syndrome. If we come to the point where autistic children (and adults) can be treated (for real, not in some “alternative medicine” fantasy land), then we can discuss the ethics of it. Until then, maybe we should concentrate on how we should treat autistic people rather than if we should treat them.

    Prometheus

  11. Hello to Prometheus,
    making a welcome return to my blog.

    I agree with most of what you say. but in fairness to the research team in Edinburgh, most of the fatalities occured in male mice when they rushed the treatment. When they slowed it down and treated female mice only one died.

    Research scientists, like pharmaceutical companies, always test their ideas on animals first to minimize the risk of this happening to people. DAN and the rest of the biomedical alties prefer to do their testing on children.

  12. Hi Mike

    The very fact that there is so much of contradictory and/or complementary research in the field of autism itself should tell us that we are in circa 1500 on the autism calender with ‘Galileo’ et al saying radical ( dare i say diverse ;-) ) things that sound unsettling to the traditionalists or the don’t-just-do-something-sit-there ( very zen, but won’t pay the rent) people. As we learn more we understand more and we are able to make more informed choices for ourselves and/ or our children. Let it happen, and let us watch without prejudice.

    I would also like to say that there seems to be a feeling that there is but one autism and that ipso facto one or two ways to deal with it ( Gernsbacher seems to be the flavor of the month). You and I know that that idea is subversive.

    While I am at it I wish – and this is to all my neurodiverse friends – that when some one who is diagnosed with aspergers at age 25 or 35 etc ( sometimes after their child is diagnosed with autism) wishes to speak for the larger autism community ( which – he should know – is somewhat bigger than his cardplaying corum) it is only ethical for him to state that for a fact and also explain how his ‘autism’ differs from say the garden variety. There are so many reports about autism in the news these days and lay people are reading it, and their insistance to be included as the voice of autism obfuscates the real thing. And also we almost always read that children with autism are often bright and intelligent, here one must quantify what ‘often’ means ( 10%? 20%? 70%? ) coz i have seen over a hundred children with autism ( autism, not aspergers) with age ranging from 2 to 41) and regret to report in the negative, without exception ( thats 100%!) ( please do not get started on what intelligence means in autism). I have read about autistic savants, and readily agree that they are super intelligent or talented because of their autism brain. And this lends itself to the fact that they are brilliant because of their autism not inspite of their autism, ( which is how it gets tend to get portrayed – Mr DC cannot speak or communicate, does not have eye contact, flaps his hands NT-inappropriately, has potty difficulties, throws a tantrum if the porridge is anything but 47 deg centigrade ( no wait -this gets reported cutely as ” he likes to have his porridge exactly at 47 deg centigrade”), BUT he is a brilliant painter/number cruncher etc).

    Regards
    Ajai

  13. Ajai
    your analogy with Galileo is misleading. Galileo was using science to challenge a world view that was based on divine revelation and papal infallibility. The division today is not between science and religion, but between good and bad science. Bad science often turns its back on the normal process of peer review and uses the media to appeal directly to the public, selling nostrums that may be of limited value or even downright harmful. This is not just limited to autism. Writing in today’s Guardian, Ben Goldacre reports on the dangerous idea that vitamin C is more effective than AZT in treating AIDS.This idea is being aggressively pushed in Africa by a German vitamin salesman with a multi-million dollar turnover.

    To return to autism, it is the traditionalists who are making significant discoveries; Bird on Retts, Baron-Cohen on pre-natal testosterone, Ramachandran on mirror neurons. The interesting thing about Baron-Cohen and Morton Gernsbacher is not about who is flavour of the month. It is about a disagreement within traditional science. They cannot both be right about Theory of Mind (ToM). But Gernsbacher’s criticisms will no doubt lead other scientists to investigate ToM in ways that get round her objections to the linguistic confounds in existing studies.

    Ajai, you said
    I would also like to say that there seems to be a feeling that there is but one autism and that ipso facto one or two ways to deal with it.

    Do you have any evidence for your feeling? Are you referring to the Safe Minds position that autism = mercury poisoning? Or the ABA advocates who say tht ABA is the only medically necessary, scientifically proven treatment for autism?

    In contrast I share the traditional view that autism is a syndome and not a single disease entity. It is multi-factorial with a strong genetic component as well as environmental influences.

    There are differences between the traditionalists here as well. Amarel is looking for the biological bases of “many autisms.” Gould argues that instead of looking for distinct, diagnostic categories of autism we should examine dimensions of autism because, “In clinical practice, it is extremely difficult to define the boundaries between different diagnostic categories, whatever the criteria used. The clinical picture found in those with autistic spectrum disorders fits better with the concept of multiple dimensions than with the concept of separate, definable categories. Individual needs are more accurately assessed from the profile of levels on different dimensions than from assigning a categorical diagnosis.”

    Regarding autistic adults who presume to speak for the whole spectrum, you object to those who are diagnosed in adult life subsequent to the diagnosis of their own child. The child is autistic, the parent is autistic. They are able to reinterpret the difficulties of their childhood in the light of their diagnosis and offer advice to other parents raising children like theirs. What is wrong with that?

    You assume that high functioning adults must have been high functioning children who therefore have nothing in common with your ‘garden variety of autism.’ Many high functioning adults were low functioning children. Some of the ‘neurodiverse’ have been diagnosed as both retarded and gifted at different points in their lives. Some are low functioning in their real life while appearing high functioning in the virtual life they lead via the internet. I think that parents like these (and autistics like these who may never become parents) have, at the very least, as much right to speak for autism as non-autistic parents like you and I.

    Regarding intelligence and autism I am surpised that you have met no bright or intelligent children with DSM-IV Autistic Disorder. Fombonne’s epidemiological studies in England found that half of children with autistic disorder had mild to moderate mental retardation. (MR) Around a fifth had severe MR. But nearly a third were of normal intelligence. For comparison a tenth of PDD-NOS children had mild to moderate MR while the rest were normal. All the Aspergers kids were in the normal range.

    Ajai, you seem to be defensive in the presence of ‘the neurodiverse.’ It is as if you want the best for your son and think that his best interests are threatened by the concept of neurodiversity. Please think again.

  14. Thank you Mike for your reply, it helps me understand better, about the areas where scientists are throwing light on, and for the record, i do believe in what Bird and Dr Ramachandran is working on and i think the neuro or neurometabolic way ( well researched and peer reviewed) may be one way to go to help us better understand and hopefully reduce the many other difficulties that our children are facing; about Baron-Cohen well, if he any relative of Sacha then we are doomed aren’t we!!? (just kidding). Long before my son was daignosed i had heard about Dr Ramachandran and had subsequently read his book ‘Emerging Minds’ and i am fascinated by his ideas and experiments, and do feel it finds resonance in our son’s life as well. All the best to him.

    Yes I am more than a bit defensive when it comes to the ND crowd, mainly because of the negative energy present there. Could you point to me any helpful sites thay they operate that could allow parents to better understand their children ( and it would be great if it is a peer (Autistic peers ) reviewed idea – the one off anecdotal gems that are floating around the net does exactly that same disservice that Safeminds et al are perpetuating). What ever help they are providing gets lost in the white noise of their anti-mercury/ anti-ABA fixation. I need their help in areas of their expertise not on topics that are bounced around the internet that has no relevance ( by their own admission) to autism.

    Once again thank you for your reply and patience with me.

    Ajai

  15. If you only want to use autistic people to help yourself, the least you could do is offer a decent salary.

    -Diagnosed age 3, 1986. Oops. Looks like you need to rearrange some presuppositions, doesn’t that look silly?

  16. Ajai
    it would help if you provided examples of the sort of negativity that puts you on the defensive. Autistic adults generally have to cope with a lot of negativity in their everyday lives and come online for support and companionship from their fellow autistics. They should not be expected to act as a resource for parents. Many do, usually by participating on email lists. In India I have found the philosophy and advice of my name sake “Action for Autism” to be compatible with respect for neurodiversity. I wrote about them in my blog entry Put Children First and you can read a description of their work on the Awares Conference web site by Merry Baruah. You have to register with the site to get access to the presentations.

  17. Ajai, the supposed negativity of those of us in the autism self-advocacy movement (the “neurodiverse”) is a strawman constructed by those who seek to keep us silenced, or at minimum politically neutralized. One of many strawmen, the central one of which is the notion that we are against helping autistic kids (and adults!) acquire skills, mitigate handicaps, and remove obstacles. Total rubbish. Yet very effective at turning otherwise potentially open minds away from us.
    Note that this reply of mine is only as negative as it must be, dealing with a negative and quite pervasive rhetorical tactic used against us. If I really were a mean nasty negative ND I would lambaste you for having drunk the Kool-Aid and embraced the strawmen. But on the contrary I have hope and faith that you will cast a critical eye upon the assertions about us made by others, and the motives behind those assertions, and open your eyes and mind to what we are really saying.

  18. Phil Schwarz. Thank you for the post. I shall keep that in mind.

    Regards
    Ajai

    PS: “If I really were a mean nasty negative ND I would lambaste you for having drunk the Kool-Aid and embraced the strawmen”. Hmmmn… thank gOd it is difficult for you to be mean Phil…. coz ‘mean’ is a game that is easy , and one that two can play – being civil is the hardest and most difficult part.

  19. “To hell with the mercury nonsense.”

    Did I miss something? Please show me where it is proven that mercury is not a contributory factor in autism?

    1/ Why did they immediately remove thimerosal from vaccines when the outcry became so loud?
    2/ Does this research factor in the mother’s dental situation? ie. multiple mercury fillings.
    3/ Why is alzheimers so much more prevalant in people with mercury fillings.

    Mercury poisoning was well documented (pink disease) in Victorian times, and was very similar in symptoms to ‘mercury induced autism’.

    Now, I don’t believe mercury is THE cause, but it is one of the contributory factors that tip borderline children over the edge.

    The day we accept autism as a part of society, without seeking to find ways to treat it or stop it from occurring, will be a very sorry one.

  20. Eric
    it is up to the proponents of the mercury hypothesis to prove their theory. All the proofs offered so far are inadequate.
    With regard to your questions
    1. They removed thimerosal because they were panicked by the PR campaign against it. There was no scientific reason to do so.
    2. Mercury fillings are not a health hazard.
    3. I do not know if it is. Where is your evidence?

    Pink disease was a twentieth century phenomenon not Victorian. Its symptoms include weepy red rash, peeling skin, lethargy, anaemia, sensitivity to light, respiritory distress and general ill health. About 25% of babies who got Pink Disease died.
    That is nothing like autism.

  21. Pingback: When Friends Fall Out « Action For Autism

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