Autism affects around one in 100 children with boys at a higher risk than girls. The number of people diagnosed with Autism Spectrum Disorder has been dramatically increasing since the 1980s. Some of this is down to better diagnosis but what doctors want to know is whether autism itself is actually becoming more common.
Didier Destatte’s daughter Rosalie suffers from autism. He said: “I have called Rosalie ‘my great mystery’ since she was a little girl. It’s both about her as a person, and her disability. Here in this house, for example, she can have between 20 and 30 seconds of independence before it is necessary to look after her. It is in the long run that this is difficult to manage.”
There is still no effective drug treatment although recent advances in 3D imaging and genetics have given scientists new hope.
Europe is at the cutting edge of autism research with its just-launched EU-AIMS programme. One of its most exciting breakthroughs so far is a hint it might be possible to reverse some of the brain changes in autism.
Thomas Bourgeron is a world authority in autism genetics. A researcher at the Institute Pasteur in Paris, he said: “Initially, there is a diagnosis of autism by a psychiatrist, this is very important. Afterwards, a blood test allow us to isolate a sample of DNA. Here we have all the chromosome – in this case 11 – of an individual.
“You can virtually explore the genome and sometimes we can see the signal falls. And what this lower signal shows is that this child has lost by one, two, three, four, five million letters. And when he has lost five million of these letters, he has also lost all his genes. In the laboratory we try to understand, among all these genes, which is or which are the genes responsible for autism in this person.”
There are dozens of genes responsible for autism – some involved in the development of neurons, particularly the functioning of synapses, and when the genes are defective, these synapses are weakened.
Researchers in one lab have created mice with a mutated gene – a mutation associated with autism.
In the first tray they put two normal mice. In the second there is one normal mouse and one mutant mouse. While the pair of normal mice engage with each other, the altered mouse is not interested in the other mouse in its tray.
The EU researchers have discovered a link between the lack of a particular gene – neuroligin-3 – and inherited cases of autism. Mice missing this gene have overactive glutamate receptors and this causes problems with learning and brain development.
At the same time King’s College in London has launched a study on 3D brain imaging.
Declan Murphy is a professor of psychiatry and brain maturation at King’s College London. He said: “We try to use the brain information in a way that you see its richness, its three-dimensional richness. So if you imagine, for example, the surface of the brain looks like the Alps or the surface of a planet. So we try to take all the three-dimensional information available to us, to put that together to say: what’s the picture of the brain of someone with autism? How can I use that picture to identify individuals with or without autism?”
The hope is that these developments will pave the way for faster and more reliable diagnoses for autism and eventually a treatment.
ASD symptoms vary wildly from person to person; some are only mildly affected while some are severely disabled. And while some sufferers have learning difficulties, others excel in areas like maths and music.
Richard Bergström is director general of the European Federation of the Pharmaceutical Industries and Associations.
He said: “What we’re now discovering in this project is that you need to bring all these different new technologies together. So imagine we can see what is going on in the brain. The knowledge about genetics, the knowledge about proteins, it takes all this together and you can develop what we call bio-markers to have something to measure, because when you start leaving medicines you need to have some kind of measurement, we call that ‘endpoint’. To study whether (the drug) is going to be effective or not.”