I attended Marie-Josée Caron's doctoral thesis defence last Friday (I'm an author on one of the two published papers in her thesis). The external juror--the decision of whether to grant the doctorate is made by a jury-- was Elizabeth Pellicano from Australia, who now works in the UK. Dr Caron [grin] was successful in defending her thesis. She is not continuing in research and is working as a clinician (she is a neuropsychologist). Isabelle Soulières was there, visiting from Boston (where she is doing her post-doctoral work). The first thesis defence I ever attended was Isabelle's last spring.

On Thursday, we had a big meeting at the lab for Dr Pellicano to present some of her research. That was 2 days in a row being a lot more social than I am 99% of the time. Still decompressing, while efficiently getting ever farther behind in everything.

In the "things you run into when you're exhausted and prone to hysterics" dept, a knitted digestive system http://www.strangebuttrewe.com/knitGI.htm which compelled me to look around for a knitted brain, and it's everywhere....

Here's a poster with knitted brains http://lcni.uoregon.edu/~mark/Space_softwa...d_Brain_poster.html

Here's the knitted brain in the journal Science http://www.sciencemag.org/cgi/content/summary/314/5796/49c where we find out that the brain knitter is a psychiatrist (of course) who "says she began knitting a brain ... to kill time when she was undergoing clinical training in child psychiatry."

Here's the assembled knitted brain http://lcni.uoregon.edu/~mark/Space_softwa...Brain_photo_sag.jpg

Here's the knitted brain on a knitting blog (scroll down a bit) http://jujuknits.com/?p=81

Here's a different knitted brain that's supposed to be in a Canadian museum http://www.flickr.com/photos/urbanmkr/266895606/

So that's what knitted brains look like. Cool!

Edited by author 09-03-2007 07:16 PM
I've never seen this blog before, but this is priceless.

From http://theworldaccordingtospencer.blogspot...ies-for-autism.html , this is the whole blog post (Spencer is 7):

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Spencer brought home a brochure from school saying that they were doing a fundraiser called Toonies for Autism. So I read the brochure to him and one part of it said "We are raising money for kids with Autism." Spencer got SO excited and enthusiastically gathered some toonies to take to school (he knows he has autism). Then he told me he was going to be RICH!!! I had to explain to him that the school wasn't raising the toonies to actually give to HIM, it was for a foundation to teach people about what Autism is. He then decided that that really sucks.

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"Toonies for Autism" is the way Autism [Society] Ontario raises money, so it's really "Toonies for Autism [Society] Ontario." Except "Toonies for Autism" is now called "Together for Autism" (I guess toonies--Canada's 2 dollar coin--weren't enough), which of course means "Together for Autism [Society] Ontario."

TFA[S]O doesn't include any autistic people in any decision-making capacity, which is why it is strongly supported by the CIHR. Last year TFA[S]O and the CIHR ran a contest which resulted in flagrant prejudices about autistics being publicized and winning praise and being awarded exciting prizes. I was going to write about that and forgot.

Anyway, Spencer got it in one.

On 4 Sep 2007, at 04:16, QuickTopic daily digest wrote:

>
< replied-to message removed by QT >

thanks so much for the knitted brains Michelle - a perfect gift for my dear friend (and webmaster) Sue: [a] she knows more about brains than anyone else I know, having been obsessed with them for years and [b] as a local history fanatic she has inspired the knitting of the Brighton map of 1780 or so, a process well under way with many local knitters involved.

This article in the Guardian last Saturday - 'The misfit' by Oliver Burkeman - discusses the issues around Arthur Miller and David, his Down's syndrome son: http://arts.guardian.co.uk/theatre/drama/story/0,,2160331,00.html.

Burkeman writes that "[I]t is impossible not to view Miller's decision regarding his son through the prism of his plays, which earned him a reputation as a moralist; some friends are described as disgusted and outraged. But fellow playwrights in England, [...] could hardly disagree more. 'I don't think he strode around the world declaring himself to be a man of 100% moral integrity', says Arnold Wesker, who knew him, but said he had no idea of Daniel's existence until yesterday".

David Edgar said that "'[I]f he had betrayed people to the McCarthy hearings, that would have undermined The Crucible...but I don't think this can undermine his moral judgements about other things.'"

In today's Guardian there is a letter from the father of a woman with Down's syndrome, who was born in 1986. See http://www.guardian.co.uk/letters/story/0,,2161754,00.html.

Edited by author 09-06-2007 03:45 AM
Catching up (a little...), the Guardian also had a short article about Down syndrome to go along with their story about Aurthur Miller's son Daniel. It's here http://arts.guardian.co.uk/theatre/drama/story/0,,2160333,00.html

Apart from the acknowledgment of how harmful institutions were to DS people (as there were and are to all other people), I found this statement interesting:

"From just under 50,000 people in institutions in the UK in 1976, today there are under 1,000."

I wonder how accurate that is. But let's say it is. There are very roughly 500,000 autistics in the UK, of whom 350,000 or so would be adults. And even now, ABA programs in the UK aren't very common. Probably very few autistic adults in the UK had unlimited ABA/IBI starting as young children.

And according to our famous "autism advocates", 90% (or more) of those ABA-deprived 350,000 autistic adults should be institutionalized. They didn't get the one ("medically necessary" etc) treatment that can save autistics from our natural fate. So there should be something like 315,000 autistic adults in UK institutions. But here the Guardian says there are less than 1,000 people living in UK institutions.

I wonder if "autism advocates" in Canada wrote en masse to the Guardian, pointing out what must be their egregious error. One thing you can count on: the absolute certainty of our celebrated "autism advocates" that autistics just naturally belong in institutions.

Edited by author 09-06-2007 04:39 AM
Scientists miss the boat and seriously underestimate the genetic diversity of human beings. From a Globe and Mail story http://www.theglobeandmail.com/servlet/sto...03/BNStory/Science/ about the decoding of one human being's genome:

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The first two maps of the human genome, published by an international government-funded consortium and a private company in 2001, were based on a patchwork of DNA from several donors. Both versions were also half maps, decoding only one set of the 23 chromosomes on the assumption the two sets would hardly differ.

This set of 23 paired chromosomes, made up of six billion chemical units in total, is the first full human genome ever decoded for an individual – U.S. scientist Craig Venter.

Those maps suggested that humans were 99.9 per cent genetically identical, with only one one-thousandth of DNA information accounting for all the vibrant variety of humanity.

Now researchers from Canada, the United States and Spain have decoded all 46 of the chromosomes belonging to J. Craig Venter, the 60-year-old upstart American biologist whose company, Celera Genomics, compiled the private version of the human genome seven years ago. And the results indicate that those first celebrated DNA maps seriously underestimated the genetic diversity of humans - by a factor of at least five.

The new work suggests that the genetic code in the chromosomes we carry can vary widely, not only between any two strangers waiting at a bus stop, but between brothers and sisters.

"The biggest single surprise is how much we missed the boat with the human genome seven years ago, and how different we really are," Dr. Venter said in an interview. "The overwhelming message back then was that we are all like identical clones of each other. ... It's comforting to know we are more unique than that."

[...]

At the same time, the study serves up a sobering dose of reality for genetic medicine. Diagnosing conditions through genetic tests may be trickier than expected, since the differences between maternal and paternal chromosomes means there could be two very different sides to every story. As well, the work shows that relying on DNA to predict anyone's medical future at the moment might be a lot like reading tea leaves: The picture could be fuzzy and fleeting for a long time to come.

"It is clear," Dr. Venter said, "that we are still at the earliest stages of discovery about ourselves and only with continued sequencing of more individual genomes will we be able to garner a full understanding of how our genes influence our lives."

[...]

Steve Scherer, the senior scientist in Genetics and Genome Biology at Toronto's Hospital for Sick Children who led the analysis of the Venter genome, noted for example that nearly half of Dr. Venter's 23,224 genes contained variants, or mutations - "a number geneticists have wondered about for 50 years." At this point, Dr. Scherer said, no one can interpret most of the new information. In fact, the researchers note that decoding Dr. Venter's DNA has so far revealed not much more about his potential health problems than knowing his family history.

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But if you're an "autism advocate," you can arrogantly ignore all that boat-missing and serious underestimating, and ignore the fact that "we are still at the earliest stages of discovery about ourselves," and ignore all that unexpected genetic diversity and vibrant variety, and ignore that "relying on DNA to predict anyone's medical future at the moment might be a lot like reading tea leaves," and ignore that "nearly half of Dr. Venter's 23,224 genes contained variants, or mutations" and also ignore that "no one can interpret most of the new information," and so on--and declare that any second now (we're at the tipping point, remember? See /m6605 and http://mikestanton.wordpress.com/2007/08/2...ale-of-two-autisms/ ), we're going to have those nasty, guilty autism genes hunted down and cornered.

Dr Scherer, quoted above, was one of the main authors of the uberhyped Autism Genome Project paper in Nature Genetics, via which Peter Szatmari claimed that in no time, the genetic diversity of autism will be prevented. After all, in our era of "autism advocacy" arrogance, what is human genetic diversity for if not to improve on, right?

Re: underestimating genetic diversity.
WOW! That's amazing. I have a habit of falling back on seeing genes as sort of a recipe, sort of almost straight forward, and I know for a fact that that's wrong from what I learned in developmental psychobiology. But this is quite plain, isn't it? Wow.

Edited by author 09-06-2007 05:27 PM
There's a new autistic mouse on the block... see "Researchers Develop Mouse Model of Autism Spectrum Disorders" http://www.hhmi.org/news/sudhof20070906.html It's about a paper published in Science Express, wherein the journal Science provides articles considered of great importance and urgency as soon as possible, and prior to their formal appearance in Science. I haven't read this paper (Tabuchi et al., in press) from scientists at the University of Texas yet; it's abstract is here http://www.sciencemag.org/cgi/content/abstract/1146221

So what's the great urgency about?

The article's title is "A Neuroligin-3 Mutation Implicated in Autism Increases Inhibitory Synaptic Transmission in Mice"

Well, that sounds important.

So this brand new autistic mouse has a single mutation in the neuroligin gene NLGN3. Mutations in NLGN3 and another neuroligin gene, NLGN4, were found in 2003 to be "implicated in" autism. This was the work of Thomas Bourgeron's group, and was reported in the first paper to claim that mutations in certain genes were associated with autism (you can get to the free full text via PubMed here http://www.ncbi.nlm.nih.gov/sites/entrez?D...nel.Pubmed_RVDocSum ). At the time, this was a heralded as a huge breakthrough.

So now a new group of scientists has used a single mutation in NLGN3 to produce an autistic mouse model, and their resulting findings are considered another major breakthrough in the understanding of autism--if I've read their abstract right. And of course, anything published in Science about autism is going to be highly influential. Indeed, this particular finding was considered so urgent and important that it was rushed into publication via Science Express.

But--so far as I can tell, pretty much every genetic study that followed Dr Bourgeron's landmark paper in Nature Genetics has found no association between autism and any mutations in NLGN3 or NLGN4, sometimes in large samples. Here's some of them (I may have missed one or two):

From Vincent et al. (2004; abstract is here http://www.ncbi.nlm.nih.gov/sites/entrez?D...nel.Pubmed_RVDocSum ): "Our own study, screening a larger sample of 196 autism probands, failed to identify any mutations that would affect the coding regions of these genes [NLGN3 and NLGN4]. Our findings suggest that mutations in these two genes are infrequent in autism."

From Gauthier et al. (2005; abstract is here http://www.ncbi.nlm.nih.gov/sites/entrez?D...nel.Pubmed_RVDocSum ): "We found no mutations in these X-linked genes [NLGN3 and NLGN4]. These results indicate that mutations in NLGN3 and NLGN4 genes are responsible for at most a small fraction of autism cases and additional screenings in other autistic populations are needed to better determine the frequency with which mutations in NLGN3 and NLGN4 occur in autism."

From Ylisaukko-oja et al. (2005; abstract with access to full text is here http://www.ncbi.nlm.nih.gov/sites/entrez?D...nel.Pubmed_RVDocSum ): "We conclude that neuroligin mutations [including NLGN3 and NLGN4 mutations] most probably represent rare causes of autism and that it is unlikely that the allelic variants in these genes would be major risk factors for autism."

From Blasi et al. (2006; abstract is here http://www.ncbi.nlm.nih.gov/sites/entrez?D...nel.Pubmed_RVDocSum ): "Our data indicate that coding mutations in these genes [NLGN3 and NLGN4] are very rarely associated to ASD."

And all this hasn't stopped Tabuchi et al. from considering that NLGN3 is "implicated in" autism. I'm sure they know something I don't. But from my own (surely ignorant) viewpoint, it's, ah, interesting that a mouse with a mutation that doesn't seem to be associated with autism (or is very rarely associated with autism) is considered to be a great breakthrough in the urgent and crucial (after all, how can we combat autism without a mouse model) autism mouse model sweepstakes.

And according to the informal blurb (no idea if this will be reflected in the formal paper), this new autistic mouse is considered a great leap (or scamper) ahead of old autistic mice because its phenotypic characteristics are deemed to be specific to autism. And those characteristics are considered by the new autistic mouse scientists to include major cognitive strengths. So, are "autism advocates" going to protest? I mean, obviously, those mice can't be "real" autistics. They're too high-functioning. They know nothing about autism reality.

Well, there are autism remedies that have even less documentation than ABA -
http://healtheland.wordpress.com/2007/02/2...he-cause-of-autism/
has the story of one cure -
"
Now I am not an expert in the field of spiritual deliverance or demons, but a few things I do know. 1) Demons cause sickness. 2) Demons hate kids (remember Molech and Baal mentioned in the Old Testament, to whom people would sacrifice their children?). 3) Unstable environments really mess kids up, making them more vulnerable to demons. 4) Demons are released from the “abyss” or “the spirit realm” into the natural realm by witchcraft, idolatry, false religions, etc. Put it all together, and that explains your ADD/ADHD/autism epidemic among kids.
 There is help, however, through spiritual deliverance! The Detroit Word of Faith preacher Keith Butler has asserted that parents have brought kids wracked with ADD, ADHD, and autism to the private school that his church runs, and they cured them merely by having the kids listen to audio Bibles through headphones all day long over the course of several weeks/months! Now I am not an endorser of all of Butler’s doctrines (he is one of those charismatics that falsely claims that everyone who is saved should be able to speak in tongues), but if his story is true - and I believe that it is - then it just shows how the Word of God can cure any disease and cast out any demon that causes them, including mental illness."
JADD please note.

"new autistic mouse scientists"
WoWEEE!!! So these are some really, really, really smart autistic mice! Will they name them the Michelle Dawson mice, as they are both autistic and scientists?

:-)

The Doogie mice were supposed to be super smart, and then there were some Mensa mice... but the Doogie mice had a sensitivity to and problem with some kinds of pain so they didn't keep breeding them, I think...

Edited by author 09-07-2007 09:51 PM
I have a question (and not just for those autistic mouse scientists). Kathleen Seidel has posted a fantastic description and compilation of a failed attempt to argue that a thimerosal-containing nasal spray causes autism http://neurodiversity.com/weblog/article/132/

There's a lot worth reading in all the documentation Kathleen provides. I haven't got through it all yet. But I keep coming back to this statement from one of the expert witnesses for the respondent (the nasal spray makers), Paul G. Fisher (a pediatric neurologist). He is referring to the autistic child, (A[...]), who was argued by the plaintiffs to have become autistic via nasal spray:

"I am a bit perplexed why the child has received so many other therapies if the mother is convinced the child has suffered a toxic exposure from mercury. It would not be useful at any point to provide chelation therapy to try to remove such and it is unclear to me how therapies such as secretin or other medications would affect the boy’s autism. Chelation therapy is known to be dangerous to children and is not medically indicated for developmental issues. Moreover, I have not seen any confirmatory tests to indicate that (the child) is intolerant of soy, gluten or dairy, and there is no peer-reviewed evidence to indicate that these compounds have a role in autism… I will testify that chelation therapy administered to (A[...]) pose(s) danger to this child for additional harm or death."

Here comes the question. This kid is in danger, right? Also, Dr Fisher says "additional harm", which seems to mean this kid has already been harmed. And according to Dr Fisher, this is serious danger, which could result in death, from a totally useless quack treatment. And Dr Fisher is aware of this, and the court is aware of this.

So who (if anyone) has responsibility to do something?

I don't have a clue about the law in this area, but I'm pretty sure in Canada there is some sort of legal obligation on adults to report when a child is being abused, is being neglected, is in danger, etc., if they (the adults) become aware of this.

I don't know if (A[...])'s chelation was known to be ongoing. Maybe it had stopped. But it looks like there would be some reason to at least consider that this child was at some risk of being subject (again) to treatments that are both useless and dangerous (harmful and possibly fatal). Shouldn't someone do something? Or are the standards different for autistic kids? Or am I being naive again?

I don't have a clue about the law in this area, but I'm pretty sure in Canada there is some sort of legal obligation on adults to report when a child is being abused, is being neglected, is in danger, etc., if they (the adults) become aware of this.

I did a quick search about it and stumbled on this text:

The law requires every person to help another whose life is in danger. This applies to drivers involved in road accidents as well as to anyone who witnesses a situation requiring quick intervention in order to prevent tragic consequences.

For example: your neighbour suffers a heart attack and suddenly collapses on his lawn. You are obliged to assist him by calling an ambulance and by physically helping if you have the capacity or the knowledge.

You are respecting your duty to provide assistance each time you personally offer the physical help needed immediately or whenever you seek help by calling the police, fire department, or paramedics.

Take note! You are not obliged to provide assistance at any cost! You are not obliged to come to the rescue if it involves too great a risk to your life, the lives of others, or for any other reasonable grounds.

For example: You arrive at the scene of an accident where there are dozens of victims. After contacting emergency services, you help the victims who are the worst-off. In theory, the injuries that you didn’t have the time to help with will not be your responsibility.

Another example: You witness an accident where a car plunges into the river. If you don’t know how to swim, you have no obligation to try to save the driver by diving into the water yourself. You still are obliged to call for help right away.

This is quoted from http://www.educaloi.qc.ca/en/loi/other_infosheets/127/

I don't know which law this information is sourced from but I'm gonna look up during the week-end and get back with a lot more details.

Alain

First autistic mouse scientists, now autistic Mickey mice (and Mickey Mouse autism research) http://aspergersquare8.blogspot.com/2007/09/autistic-mice.html