Autism screening closer as 100 genes linked to disorder are identified

Screening for autism could be a step closer after more than 100 gene mutations which could cause the disorder were identified by scientists.

Great Ormond Street Hospital and US researchers have been working to find the genetic blueprint of autism for the last 10 years.

After studying DNA samples from children they found than 100 genes which might account for the disorder, and significantly they were discovered they were also present in their parents suggesting autism is inherited.

It raises the prospect that couples undergoing IVF would be able to select embryos without the mutations and prevent their children developing autism.

Parents could also be screened for the genetic variants and warned about the possibilities.

Prof David Skuse, Head of the Social Communication Disorders Team at Great Ormond Street Hospital and co-author of this research says: “This work is very important as it brings us closer to interpreting genetic data from families affected by autism and using it during genetic counselling to start explaining to families why their child may have the condition and what their likelihood of having further children with ASD might be.

“Building a resource of genes that are implicated in the disorder also makes research by pharma companies more commercially valuable meaning that treatments for the condition may improve in future.”

Autism spectrum disorder (ASD) is a lifelong developmental disability that affects around 700,000 people in Britain and influences how individuals communicate and interact with other people

The genes were identified by scanning 15,480 DNA samples collected from across the world.

The largest contribution of samples from the UK came from Great Ormond Street Hospital

Many of the genes implicated are thought to be involved in brain function, including formation of new connections between neurons.

Some of the gene mutations found have also been linked in the past to schizophrenia and intellectual disability.

However autism charities said that the disorder was complicated and other factors may also be responsible.

Carol Povey, Director of the NAS Centre for Autism, said: “Autism is a highly complex story of genes not only interacting with other genes, but with non-genetic factors too.

“Research like this helps us to understand the genetics involved in certain forms of autism and opens up the possibility of whole families gaining a better understanding of a condition they may share.

“However, we are still a long way from knowing what causes autism. What people with condition, their families and carers need most of all, is access now to the right kind of support to be able to lead full lives.”

The study was published in the Journal Nature.