A LANDMARK study into the causes of autism has identified key genetic “fingerprints” that could help doctors diagnose the disorder in children.
British scientists are now seeking funding for a pilot study to investigate the effectiveness of new genetic tests.
The research, conducted by around 60 teams of experts from 12 countries including the UK, identified rare sites of genetic disruption that were almost 20% more common in autistic children than in unaffected individuals. They involved “copy number variants” – losses and duplications of whole chunks of DNA – often not present in parents.
The abnormalities involve biological pathways that have not yet been investigated, scientists believe.
Rare copy number variants have already been shown to contribute to learning disabilities. There may also be some overlap between the genetic causes of autism and conditions such as epilepsy and schizophrenia.
