No one single cause of autism, a complex neuro-biological disorder, has been identified. The symptoms of autism vary from individual to individual, but all symptoms encompass social and communication difficulties.
The Autism Society reports that “it is generally accepted that [autism] is caused by abnormalities in brain structure or function.” Brain scans of children with autism show differences in the shape and structure of the brain as compared to normally developing children. So is there a genetic component to these differences in brain shape and structure?
Some families have a pattern of autism, and some children, it appears, are born with susceptibility toward the disorder. Research is being conducted on whether some genes may interfere with brain development that results in autism.
In 2007, Autism Speaks published preliminary results from the largest-ever genome scan that indicated that there may be a link between genetics and autism. The study focused on a specific group of neurons called glutamate neurons and the genes that affect their development and function. The findings suggested that these neurons have a crucial role in ASDs.
Autism Speaks chief scientist Andy Shih stated that “By combining cutting edge CNV analysis with the more traditional linkage and association [analyses], the scientists now have a promising new experimental framework to look for autism susceptibility genes.” Shih went on to state that the “findings from the AGP linkage scan confirm the value and contribution of multidisciplinary collaboration to advancing autism research.”
The identification, then, of these genes may provide insight into the causes of autism, in turn providing new ways of diagnosis and treatment for those affected by it.
While pin-pointing a specific gene that causes autism may be a long way off – if it is ever located – any ongoing research that will help identify autism’s underlying causes will ultimately result in more effective treatments and interventions.
A medical test for autism still does not exist, and diagnosis is made based on observation of symptoms. While research on a genetic link to autism is promising in terms of diagnosis and treatment, the ability to determine a genetic link to autism in utero brings with it its own set of moral and ethical debates.
To read more about the autism genome project click here.