Genetic instabilities a potential culprit for autism

An ongoing search continues with autism as researches seek answers to the influence of genetic or environmental factors as diagnoses climb rapidly.

On Tuesday, findings from a study were released concluding children with autism have higher levels of genetic changes in regions of the genome that are prone to DNA adjustments, called "hot spots" by the scientific community. The study will be published in full in the upcoming edition of Human Molecular Genetics.

According to the study, these genetic changes are caused by an overflow of DNA segments in hot spot areas, potentially affecting the possibility of a child developing autism. Currently, the official ratio from the Centers for Disease Control is one out of every 88 children.

"These results beg the question as to the origin of this genetic change," said Scott Selleck, the lead researcher at Penn State. "The increased levels of both rare and common variants suggests the possibility that these individuals are predisposed to genetic alteration."

The results of the study do not provide a clear answer on the impact of genetic or environmental factors on autistic people. In fact, discoveries that pose more questions is a common trend among studies that pinpoint potential indicators for autism.

"We know that environmental factors can affect the stability of the genome, but we don't know if the DNA copy number change we detect in these children is a result of environmental exposures, nutrition, medical factors, lifestyle, genetic susceptibility, or combinations of many elements together," Selleck said.

No data was available on the number of children who participated in the study, but the expedition spanned several years, collecting data on clinical history, environmental, nutritional, family and medical records from families of children with autism and other developmental disorders. Randomly selected control children from the general population were also used to provide a framework of sequencing patterns for autistic children and those outside the spectrum.

Multiple studies on autism are conducted at any given time, but the gathering of materials to reach a consensus is highly gradual. Deliberate speeds can be aggravating for impatient autism advocates, but the conclusions establish a foundation that is tougher to debunk through argumentative measures.

The calculated approach brings its own authoritative pull. A combination of studies and investigative reporting gave the British-run General Medical Council enough credence to discredit a widely-circulated belief that vaccinations played a role in autism cases. Following the bombshell, The Lancet, the journal that published the controversial report, retracted the study from its records. In the intervening three years since the vaccine link was no longer recognized, debate on its validity has tapered in popular press.

The DNA study included collaborators from Penn State University, the University of California-Davis and the University of Washington.