Autistic children carry more copy number variants in their genome than children without autism. Some of these variants appear to be inherited, while others are considered new, because they are found “only in affected offspring and not in the parents” of autistic children.
That’s what Autism Speaks and “an international consortium of researchers, along with participating families,” announced while unveiling the second phase of the Autism Genome Project. The results of this phase of study were published today in the scientific journal Nature and sent in a press release by Autism Speaks.
The study also identified new autism susceptibility genes which “may lead to the development of new treatment approaches.”
People such as Andrew Wakefield and Jenny McCarthy who are convinced autism is caused by vaccines will be dismayed that according to Autism Speaks vice president for scientific affairs Andy Shih, “Piece by piece, we are discovering genetic mutations that can cause autism.” His plan is to provide families with concrete reasons their children have developed autism, not more speculation.
Shih says, “These findings will provide answers for families about what contributed to their autism. Furthermore, as we have learned from examples involving other genetic risk factors of autism, these genetic findings help us understand the underlying biology of autism, which can lead to the development of novel treatments.”
The Journal of Proteome Research published research from the Imperial College London and the University of South Australia this week indicating that “children with autism have a different chemical fingerprint in their urine than non-autistic children.” Which means someday patients may only require “a simple urine test to determine whether or not a young child has autism.” This is a remarkable discovery, since children are currently tested for autism “through a lengthy process involving a range of tests that explore the child’s social interaction, communication and imaginative skills.”
Science Daily reports that “people with autism are also known to suffer from gastrointestinal disorders and they have a different makeup of bacteria in their guts from non-autistic people. Today’s research shows that it is possible to distinguish between autistic and non-autistic children by looking at the by-products of gut bacteria and the body’s metabolic processes in the children’s urine. The exact biological significance of gastrointestinal disorders in the development of autism is unknown. The researchers are now keen to investigate whether metabolic differences in people with autism are related to the causes of the condition or are a consequence of its progression.”
This research is shedding more light on the autism spectrum, which is good news for parents who have been fighting an uphill battle.
Photo: Autism Speaks via Flickr