Of mice and men and autistic fruit flies

Autism is a hot topic for scientists engaged in brain research. If you can link your research to autism it may help you to access additional funding that is available in the USA. In response to a determined campaign by parents and lobby groups  Congress passed the Combating Autism Act which sanctioned a substantial increase in the funds available for research into the causes of autism. At the same time the high profile pressure group Autism Speaks has, by a series of mergers and alliances, notably with Cure Autism Now! and the National Alliance for Autism Research, emerged as a leading funder of autism research.  In June it announced research grants of $15.2 million USD. Then there are private trusts like the Simons Foundation which is providing long term funding for autism research at Yale($2.5 million USD), Cold Spring Harbour, ($13.8 million USD), Michigan($2.8 million USD), MIT($7.5 million USD) and Rockefeller ($7.7 million USD).

This is serious money. One hopes that it attracts serious research. The Chapel Hill School of Medicine at the University of North Carolina is a serious research institute. According to Science Daily  they have made an important discovery that

may lead to advances in understanding autism spectrum disorders, as recently, human neurexins have been identified as a genetic risk factor for autism.

They made this important discovery while researching the role of neurexin in Drosophila, that is fruit flies to the rest of us. Drosophila are an important part of the biological research toolkit. Their relatively simple genome and rapid reproductive cycle have made them a favourite of biologists researching the mechanics of evolution. But autistic fruit flies? Autism is a complex social disorder. Fruit flies are not complex social beings.

Neurexin is a basic prerequisite for  neuronal connectivity. Without it the fruit flies barely survived. Movement was severely impaired. These are primitive creatures compared to us. I would anticipate that a similar lack in humans would have far more devastating results. Autism would be the least of our worries. Never mind. The putative autism connection cannot have done any harm in obtaining funding from

  • the National Institute of General Medical Sciences,
  • National Institute of Neurological Disorders and Stroke
  • the National Institute of Mental Health 
  • the state of North Carolina.

Moving up the food chain we find a mouse study. Thanks to Mady Hornig mouse studies  of autism have received a bad press. But this one is different. Thanks again to Science Daily for telling us that

Howard Hughes Medical Institute researchers have genetically engineered mice that harbor the same genetic mutation found in some people with autism and Asperger syndrome.

The gene in question codes for for a protein called neuroligin-3.

This protein functions as a cell adhesion molecule in synapses, the junctions that connect neurons in the brain and allow them to communicate with each other. Synapses are essential to all brain activities, such as perception, behavior, memory, and thinking. Südhof said that the neuroligin-3 mutation that his team recapitulated in the mice has been identified in some people with genetic conditions known as autism spectrum disorders (ASDs). Mutations in proteins that interact with neuroligin-3 have also been detected in some people with ASDs.

Neurexin is one of these detected proteins.  (remember the fruit flies?) Is this a double whammy that damns autistic people/mice forever? Apparently not. These genetically engineered, autistic mice did rather more than “barely survive.” They showed diminished social interaction but improved cognitive performance compared to neurotypical mice. This is automatically seen as a deficit. But surely progress is driven by those individuals who turn their back on the herd and consider the external world? Never mind. In the wacky world of autism research, conformity is valued over diversity and sociability scores higher than intelligence.

But my take home message is that geek mice rule OK! [or at least they ought to]

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A tale of two autisms

The Sunday Times has published a thoughtful piece on autism by Mark Henderson, entitled ‘We ask ourselves, can we separate Alex and autism?’ 

Alex is 12 years old and described as being “at the less extreme end of the autistic spectrum.” This was not always the case. He regressed when he was 14 months old, losing speech and becoming so withdrawn that nursery staff thought he was deaf. Reading his mother’s description of his early years Alex’s autism is plain to see. But he had to wait til he was 5 to get a diagnosis. Julia, his mum, would welcome improvements in genetic screening if it meant that children like Alex did not have to wait so long for a diagnosis but some of her worries chime with those raised by Dr Russell that are discussed on my previous blog.

“It took an age to get Alex the help he needed,” she said. “The earlier you know, the better, and if this could help us identify autism as young as possible it would be wonderful.

“But I would not want a situation like Down’s syndrome, where you tell parents while the child’s in the womb and you have to make a decision.

“We also ask ourselves how much of Alex’s personality is Alex, and how much is the autism. Can we even separate the two?

“If you asked us could we have prevented it, we would have to think. Obviously in some ways it would be better for him, but he is happy in himself.”

Questions like these are bound to come up more often as advances in genetic research offer the prospect of earlier diagnosis and even the possibility of prevention or cure. Whether or not these possibilities ever materialize is not the point. But they are undoubtedly powerful levers for releasing the massive funds that genetic research consumes.

[NB. research costs may be massive in relation to the biological sciences. But they are still small by comparison to the costs incurred in particle physics.  The Large Hadron Collider at Cern is costing in excess of 4 thousand million USD. Michael Wigler at Cold Springs Harbor has a budget of 14 million USD for his research programme into autism.]

The hype that surrounds genetic research is often encouraged by scientists eager to claim their portion of the research pie. This makes it even more important that journalists approach the topic dispassionately and are sensible to the dangers that Dr Russell raised in her article for Communication.

So it was a pity to read Mark Henderson’s latest offering in the Times, Hunting the gene that traps children in their own world which proclaims that

Parents and scientists are hoping that a new detailed analysis based on human genome will bring a big breakthrough within a year.

in the space of 4 paragraphs we get the following [emphasis added]

one of the most controversial and feared medical diagnoses of modern times

but it prompted thousands of parents to agonise over the cruel condition that seems to leave children walled off in a social and emotional world of their own, apparently beyond their love.

A disorder that was once rare has become alarmingly common,

the condition retains a brutal mystery.

This is exactly the sort of language that fuels fears about autism. It suggests that research into the prevention and cure of autism is almost an obligation. Those of us who argue for autism acceptance are accused of wishing a nightmare disorder on children. But children like Alex know happiness. They are not beyond love. They have a future. Or at least they might have a future if they are seen as people who can prosper with help and understanding, rather than the victims of a brutal mystery, at best to pitied, at worst to be feared.

All this is merely the preamble to a story about some research that is not even finished yet!

Within the next year a new study is expected to identify many of the genes that underlie autism for the first time.

I am always suspicious of claims made for a study that is still in progress. This is hype. And we have heard it many times before.  My thanks to Michelle Dawson for reminding me that in February, 2004  Thomas Insel of the NIMH said this about autism in the New York Times

“My sense is that we are close to the tipping point in this illness, and that over the next couple of years we will have, not all of the genes, but many of the genes that contribute.”

Funnily enough, we are at the same tipping point three and a half years later.

The medics tell me we are at a tipping point,” said Dame Stephanie Shirley, the millionaire computer entrepreneur and philanthropist, who is the chairman of the research charity Autism Speaks and the mother of an autistic son.

My guess is that researchers always feel as though they are on the brink of a fantastic new discovery. That is what sustains them through the painstaking daily grind at the lab bench or crunching data in front of a computer screen.  But the rest of us would rather wait for the results before we get too excited.

The article ends with another quote from Dame Shirley.

“It is quite possible that in five to ten years, we will have a real understanding of this disorder,” she said. “That’s a timescale that means today’s children may be helped.”  

I am sure that Dame Shirley is already doing a lot to help her autistic son. But genetics is the science de jour. There is a popular belief that all behaviour is the product of specific brain areas that in turn are the product of the DNA code carried in our genes. Unlock the genetic code that governs our brains and we can manage our minds. We have been here before.

Once upon a time psychoanalysis was supposed to have all the answers. It gave way to behavioural science. New brain scanning technology marked the rise of cognitive neuroscience. Genetics is currently in the ascendency. Will it prove more productive than previous paradigms or do we need a new way of trying to grasp the reality of what it means to be human, maybe one that includes autism rather than trying to eliminate it? It is significant that all the genetic research so far has tried to identify genes associated with the deficits and impairments associated with autism. Nobody to my knowledge is trying to identify the genes responsible for the autistic strengths identified by researchers like Mottron and Gernsbacher.

I do not have a crystal ball. For what it is worth, in my opinion genetic research will expand our knowledge and our understanding. But it will not lead to any sort of a cure or an end to autism. Given our current level of knowledge that is probably for the best.

‘It is not a disease, it is a way of life’

guardian-story.jpg 

This article is in today’s Guardian. guardian-story.jpgguardian-story.jpgguardian-story.jpg

It provides a useful introduction to the positions of some of the supporters of autism acceptance, including myself and fellow bloggers Kev Leitch and Larry Arnold.

The article begins:

Today, an event run by and for autistic people kicks off in Somerset, the latest act of a burgeoning autism rights movement. Emine Saner reports on the campaign to celebrate difference, rather than cure it.

It contains some really good insights from the people she interviewed. For example, Gareth Nelson (pictured above) of Aspies for Freedom says:

I don’t think you should cure something that isn’t purely negative, It’s the same as black people, who seem to be more at risk of sickle cell disease than white people but you’re not going to attempt to cure ‘blackness’ to cure sickle cell.

The only unfortunate thing about the article is that it does play up the role of Aspies for Freedom (AFF) at the expense of other initiatives. I was surprised to read that:

Nelson, with his wife Amy, who also has AS, is leading the UK’s autism rights movement.

And I am not convinced that AFF has 20000 members when the discussion forum on their webite has less than 6000 members and many of those are from overseas. This is unfortunate as one of the strengths of the emergent movement for autism rights and acceptance for autistic people is that there are many voices and all are free to explore important differences as well as points of agreement. As an example, Larry Arnold and I work together within the structures of the NAS and are in broad agreement on many issues. But we differ sharply in our attitude to the role of scientific research in autism.

I would also have liked to read more about Autscape. This event is unique in Europe. It takes its inspiration from a similar event in America called Autreat. Like the AFF, Autscape began three years ago but it makes no leadership claims. Instead it aims to:

  • Serve as a haven created by autistic people. An autistic space.
  • Provide a venue where the majority of speakers will be autistic.
  • Create possibilities within the conference for autistic people to communicate and socialise with other autistic people on their own terms.
  • Educate and inform on issues arising from within the autistic community.
  • Advocacy and self-advocacy.
  • Promote acceptance of autistic people in their own environments.
  • Enhance the lives of autistic people through empowerment, advocacy, and a nice relaxing time.

But these minor criticisms should not detract from a very valuable article in which the author shows respect for autistic people and accurately reports their views.

gtw_14_070807_4079642.jpg

 

Downs but not out.

Down’s syndrome novel tugs at America’s heartstrings

Moving tale that highlights genetic condition becomes sleeper hit of the year

Paul Harris in New York
Sunday June 17, 2007
The Observer

Like many good stories, The Memory Keeper’s Daughter begins on a dark and snowy night. But, unlike most first novels from barely known authors, the book has gone on to be one of the biggest hits in recent American publishing. It has sold more than 3.5 million copies in America and is due for publication in at least 15 other countries. It has done all this despite – or perhaps because – it is about one of the most emotional and difficult situations any new parents might face: a child being born with Down’s syndrome.

According to the Observer

The book has been a huge hit among parents of Down’s children and those who work with them. They have praised its portrayal of a child leading a full life and bringing happiness to a parent.

This is all very positive but I wonder, if the writer had interviewed people with Downs, would they have praised it because it portrayed a child with Downs bringing happiness to a parent? I have always found that the joy of parenthood derives from bringing happiness to my children. Perhaps this is what the writer meant, that parents can rejoice in their children’s happiness.

Apparently many prospective parents of Downs children do not believe that their child will be happy.  Over 90 per cent of Downs fetuses that are identified by prenatal screening are aborted. The UK Downs Syndrome Association estimates that 10 in 10,000 live births are Downs. Earlier estimates, before amniocentesis became common, ranged from 15 to 24 in 10,000.

The relevance to autism

With Downs we know exactly where the genetic abnormality lies but have no idea why one of the parents produces a sperm or egg cell with an extra chromosome. We do not understand how this extra chromsome works to produce the features of Downs Syndrome and nearly 50 years after Professor LeJuene discovered the trisomy on chromosome 21 we are still a long way off being able to reverse or ameliorate its effects. All we can do is identify around a half of Downs pregnancies and offer an abortion.

A lot of money is being spent on research into genetic markers for autism. There is not just one, there are dozens of candidate genes for autism and, unlike Downs which is present from conception, there are as yet unknown environmental factors which may contribute to gene expression. Yet every discovery is trumpeted as leading to a possible cure or a genetic test to prevent autistic babies from being born.

This is damaging for a number of reasons.

  1. If a cure is thought to be just a few decades away this will divert funding way from research into ways of improving outcomes for people who are already autistic.
  2. To justify the huge expenditure autism has to be hyped as a health crisis that is devastating lives, when in fact it is lack of understanding and the irrational fears that this sort of hype encourages that are the biggest obstacles for many families.
  3. If autism is so unremittingly awful and the genetic solution is hyped as twenty years down the line parents of newly diagnosed children are going to be vulnerable to the biomedical quackery that is already entrenched among some sections of parents.
  4. Existing autistics will be viewed at best as victims and not as human beings with equal rights to acceptance and ethical treatment.

As public opinion increasingly lines up behind scientific opinion on the unfeasibility of the autism vaccine hypothesis it is important that we speak up for autism acceptance and challenge the triumphalism in those quarters of the mainstream medical and scientific research community that seek to eliminate diversity.

Blogging about Thinking

Kev just nominated me for a Thinking Blogger award.

The official rules for participation in the Thinking Blogger Awards meme are as follows:

1. If, and only if, you get tagged, write a post with links to 5 blogs that make you think,
2. Link to this post so that people can easily find the exact origin of the meme,
3. Optional: Proudly display the ‘Thinking Blogger Award’ with a link to the post that you wrote.

thinking blog

Ilker Yoldas, the originator of this meme, also enjoins us to “Please, remember to tag blogs with real merits, i.e. relative content, and above all – blogs that really get you thinking!” Apart from feeling a buzz because Kev has nominated me in this category, I also feel obliged to choose carefully. This may be a bit of fun. But it is serious fun. It gives me an excuse to think about the themes that have informed this blog since its inception in November 2005.

  • Debunking autism quackery and exposing its exploitation of parents’ fears.
    • This is really about exposing bad science and Ben Goldacre’s weekly BadScience column in the Guardian, also published as a blog, does this and so much more. He has taken down the Geiers, Wakefield, and their media friends like Melanie Phillips. http://www.badscience.net/
  • Championing real parental concerns for their children because when these concerns are dismissed by mainstream practitioners it drives parents into the hands of the purveyors of autism quackery.
  • Educating the professionals about the reality of autism because up to date knowledge is making existing practise redundant.
    • Michelle Dawson is a remarkable autistic adult whose collaborations with Profesor Mottron in Canada and  Professor Gernsbacher in the USA have done a lot to forward this aim. http://autismcrisis.blogspot.com
  • Arguing for neurodiversity and autism acceptance because they can provide the basis for a positive intervention in the lives of of autistic people.
  • Recognizing that within science there are legitimate differences and disputes. We can be on different sides while exercising mutual respect.
    • I would recommend a website but I have already exhausted my quota. Maybe next weekend I will find time to blog about this question exclusively. It does seem to me to be of the utmost importance that, as the cultish believers in anti=science sink into obsurity, we successfully engage with the intellectually valid disputes within the life sciences in which we find giants like Pinker against Rose and, if he had not died before his time from cancer, Gould against Dawkins. Arguments about genetic determinism and autopoeisis go to the heart of the disputes within the autism community about the consequences of seeking a cure versus the potential benefits of respect for the condition of autism.

Disablism and autism

April was Autism Awareness Month in the USA. Its ending coincides with Blogging Against Disablism Day, May 1st. On this day we are invited to write on any subject, specific or general, personal, social or political, anything which states an objection to the differential treatment of disabled people.

So I thought I would write about the misrepresentation of autism in the media. There was  a lot of that last month. There were attempts to link autism to the tragedy at Virginia Tech. There were misleading press reports in the UK that ABA had doubled the IQ of autistic children. I could have selected any of the media coverage of an “autism epidemic” caused by exposure to environmental toxins, vaccines. Then there are all the articles which refer to autism as “this devastating disease.”

Instead I have chosen to focus on an article that does not contain a single mention of the words disease, epidemic, vaccines, mercury or cure. On the face of it this article is on our side. The take home message is that autism is a spectrum disorder with a massive range of abilities as well as disabilities. Instead of trying to cure them we can help autistic children by adapting our behaviour to meet their needs, especially their need to be able to reliably predict what is going to happen next. Quality education delivered by professionals who understand autism is the key to success. Multi-disciplinary diagnostic teams are necessary to make sure that autism is not missed or misdiagnosed as ADHD, OCD etc.

The problem is that it is easy to spot disablist thinking in the blatantly discriminatory articles. But the effect can be just as damaging in ostensibly sympathetic articles like this. Sometimes it can be more damaging because we are so relieved to read an article that appears to be on our side that we do not notice its implicit acceptance of many of the stereotypes that we are up against.

This is what I mean.

Last year, the department’s statistics showed 1,036 autism-afflicted students on file, said Susan Constable, director of the Autism Support Center for the department

Just as gay students are not afflicted with gayness, autistic students are not afflicted with autism. It is not something external to their lives. It is integral to who they are.

“Autism is no longer a low-incidence disorder in Rhode Island or nationally,” said Constable.

No longer? This suggests that, in line with the views of advocates of an autism epidemic, autism is on the increase. But the speaker falls into the trap of equating administrative incidence with actual incidence. The truth is that we do not know if autism has increased. We do know that about the time that US school districts were told to start recording autism the diagnostic criteria were broadened and trying to compare figures then and now is like trying to compare apples with oranges.

 Statistics indicate that more children will be diagnosed with autism this year than with AIDS, diabetes and cancer combined, according to the Autism Society of America. If diagnosis continues at this rate, the society estimates that autism could touch 4 million young people in the next decade.

The article states that the best treatment for autism is education.But it is the comparison with AIDS and cancer that will stay in the reader’s mind. The common cold is more common than AIDS, diabetes and cancer combined. But nobody ever compares the incidence of the common cold to cancer. By doing so with autism you inevitably suggest that the two are comparable qualitatively as well as quantitatively. 

Many teachers know they’ve had little or no training, but will still need to reach children with autism, Constable said.

Reach children with autism? This reflects the idea that autistic children are somehow cut off or unreachable. We return to this alien affliction of autism that stands between us and the child. So what is this training for? To understand the child and reach out to them on their own terms or to tear down the barrier of autism and rescue the child within?

These are all comon sense errors. You accept the common sense assumptions that dominate society rather than subject them to critical analysis. But once you do this you can easily slip into factual errors.

“Regressive is the type of autistic child that we are seeing really increase,” Constable said. “We know that there is a definite genetic link to autism because we see families who have two or more children with autism, but the numbers are growing too fast for this to be just genetic. There are definitely some environmental contributions that play a part in it but there have been no conclusive studies as to what those areas are.”

The erroneous assumption that an increase in  recorded cases equates to an increase in actual cases is repeated. Genetic autism is taken to mean identifiable from birth and is counterposed to regressive autism which is assumed to have an environmental cause and therefore environmental insult must account for the increase in numbers. In fact there is no evidence that regressive autism has increased. Nor is there any evidence to suggest that regressive autism is triggered by an environmental insult. There are many late onset disorders that are probably genetic in origin. Alzheimers is probably the most dramatic illustration of this.

And this is the point. Adopting faulty premises leads to faulty conclusions and the acceptance of unproven hypotheses as facts. Even the most well intentioned people can end up repeating damaging ideas as facts if they lack a theoretical framework that alerts them to this possibility.

So how did we get here? It is simple. A loud and unrepresentative minority have been capturing media attention and helping to set the agenda. It is time for a loud and representative majority to restore the balance.

Amanda Baggs – advocate for autism

I was going to post about the article in New Scientist on sociable computing that featured Amanda Baggs’ latest video on YouTube. Then Amanda made it onto network TV in the USA. She did a fantastic job raising autism awareness and promoting the ideas of autism acceptance and neurodiversity. Thank you Amanda.

This must have cost her a lot in terms of nervous energy and sensory overload. Thank you again, Amanda for sacrificing your time and energy and privacy. And for anyone else reading this, please show your appreciation by following these links.

Amanda’s blog [Be aware that all the media attention has been very stressful and Amanda may be taking  break for now.]

New Scientist

Amanda’s video, “In my language”

Amanda on CNN

Amanda’s guest blog on Anderson Cooper 360

And do visit Autism Diva’s commentary as well.