Scottish scientists raise hopes of new treatments for autism

Scottish scientists have discovered a gene linked with autism, raising the prospect of the development of new treatments for the condition.

Drugs to control autism could be developed within five years as a result of the findings, according to the doctor who led the research team at the University of Aberdeen. The condition affects more than 500,000 people across Britain and there is no cure.

The study, published yesterday, began seven years ago with one child with severe autism.

The boy attended the genetics clinic at Aberdeen Royal Infirmary, where he was found to have a rare re-arrangement of chromosomes in which one had broken and swapped with another. By using genetic mapping techniques, researchers discovered that this realignment had disrupted a gene known to be important to memory and learning.

When they extended the study to examine 120 other families with autism, they found that four other children — two siblings in two separate families — had faults in the same gene, known as EIF4E.

It is estimated that 1 per cent of the British population suffers from autism, a lifelong developmental disability that affects the way that a person communicates and relates to those around them. The condition occurs in varying forms of severity, and some people require lifelong care.

The research was led by Zosia Miedzybrodzka, reader in medical genetics at the University of Aberdeen and honorary clinical geneticist at NHS Grampian. She said that the study was a significant step towards the discovery of a treatment. “When I started doing genetics I believed that conditions such as autism, that people are born with or develop when very young, would be hard-wired and that there was little you could do about it,” she said.

“But what we are learning now is that they are modifiable, and that is very exciting. I think we could be trying out drugs in five years. It is not a cure, but something that would potentially improve the condition dramatically.”

Dr Miedzybrodzka said that the work suggested that a correction of EIF4E abnormalities could improve symptoms in people whose autism did not result from a fault in the gene. “If you fix the problem at the endpoint then you also fix problems further upstream,” she said.

She paid tribute to the parents of the boy who prompted the research, pointing out that the study was an extra complication for the family as they struggled to cope with his condition.

“It has been a long process and the family has been key to allowing us to get the blood samples we needed from the boy. With his condition, which was very severe, that was no trivial thing,” she said.

The parents of the child, who wished to remain anonymous, said: “We are delighted that the work that started with our son brings so much hope for the future.”

Carol Evans, national director at the National Autistic Society Scotland, said that the research could shed new light on the condition. She emphasised, though, that much could be done to help to manage the condition until a treatment is found.

“Various studies over many years have sought to identify candidate genes but so far inconclusively,” she said. “Whilst it is important that this research continues, it is also crucial that those living with the condition have access to appropriate advice and information, as the right support at the right time can make an enormous difference to people’s lives.”

Behind the story: A different way of thinking

Autism is a lifelong developmental condition affecting the way that the brain processes information. The condition is on the rise in Britain, but many experts believe that the increase is because of improved diagnosis.

While people can have varying degrees of autism, all sufferers share similar symptoms, including problems with verbal and non-verbal communication, difficulties with social interaction and repetitive behaviour, or narrow, obsessive interests. Boys are four times as likely to develop autism as girls.

Research indicates that a combination of genetic and environmental factors may account for changes in brain development.