Researchers know there is a genetic component to autism; studies of twins have suggested that autism may run in families. Families with one autistic child have a greater risk than the general population of having another child with autism. Research has been focusing on genetic connections, trying to find a common gene prevalent in children with autism, and on how the brains of children with autism develop.
A study released in April, 2009, has found that there is a gene variant common among 20 percent of children with autism and that may have a role in 12 to 18 percent of autism cases. The DNA was found in the fontal cortex, the region of the brain where language and communication is housed.
While there is no cure for autism, there are effective treatments and interventions. The results of this new study may impact successful treatments. Gerard Schellenberg, a professor at the University of Pennsylvania School of Medicine, the study’s author, states that “When we think about treatments, those target molecules and you have to know what to target. This is a major jump in terms of knowing what we need to look at.”
The molecules on the variant gene help to shape the developing brain’s structure, and the gene variant this study found acts as a link between the brain’s wiring and the child’s development. Found on chromosome 5, the gene variant occurs in normally developing children as well. Researchers think that there may be other high-risk variants at work in autistic children.
A second study by a research group led by Hakon Hakonarson from the Center for Applied Genetics at the Children’s Hospital of Philadelphia, replicated the results of the first study and examined the link between genes that help eliminate connections between nerve cells. The results of the study underscore the theory that abnormal connections between nerves in the brain cause autism.
“Both studies implicated genes involved in synaptic generation and neuronal connectivity,” Hakonarson said. “This is highly consistent with previously published research.”
Hakonarson also posits that environmental factors have a role in autism.
Recently, the National Institutes of Health has made autism a priority research topic and has pledged $60 million to research into the differences within the range of autism spectrum disorders. Research will focus on developing screening tools, assessing risks, and adapting existing interventions to best help treat children with an autism diagnosis.