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 He regressed when he was 14 months old, losing speech and becoming so withdrawn that nursery staff thought he was deaf.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.