September 16, 2016

In the early days of autism research there were not a lot of answers that could pinpoint a direct cause. Over time, more interest in research has been done due to increased funding.  This has lead to breakthroughs like the SPARK research project.

SPARK stands for—“Simons Foundation Powering Autism Research for Knowledge—seeks to pinpoint genetics and other risk factors of autism by studying 50,000 individuals with autism and their family members.”  (Swartz)

The SPARK study focuses on the exome which is where almost all of the genetic code is located in relation to disease and abnormalities. Research projects will be able to pinpoint genetic links to individuals with autism and related health issues such as gastrointestinal and mental health issues. 

SPARK finds family study groups that have multiple children with autism and the genetic links.  Families that have one child diagnosed with autism have a 20 percent chance of having a second autistic child. For families that have more than one autistic child, percentages are even higher.

Genome sequencing has already ferreted out mutations in 65 genes that increase the risk of developing autism, and hundreds of others will likely be implicated as well.   (Swartz) 

Genes can be passed individually from the mother or father to the child or a combination of both. Sometimes gene mutations arise that are not from the mother or father but from somewhere else. The question is where? They may be caused by environmental factors such as chemical exposure in the work place, home environment, food choices, etc… At this time there is no definitive evidence to suggest the previously listed factors.

To date, genetic causes have been pinpointed in only about 20 percent of autism cases, usually those that are associated with certain rare diseases, such as Fragile X syndrome or Phelan-McDermid syndrome.  (Swartz)

However, for individuals with less severe characteristics there seems to be no answer. The problem is these cases are not similar in genetic makeup. It could take years to find the answer if genetics is the root cause.

In fact, the most commonly mutated gene in autism—a gene called CHD8—is so rare it’s seen in only about 0.1 percent of people with the disorder. In some cases, the same change can cause severe disabilities in one individual but only mild behavioral problems in another. “In a way, you’re looking at many, many rare disorders,” says Dr. Wendy Chung, director of Columbia University’s clinical genetics program.

Chung further states, “If genetics were the only factor that determined whether a child develops autism, two identical twins, who share the exact same DNA, would always either both have autism or both not have autism.”

Raphael Bernier, an associate professor of psychiatry at the University of Washington in Seattle, says “autism is caused by a combination of genetics and a “vast array” of environmental factors—from a child’s exposure to certain toxins to overweight parents.” (Swartz)

In conclusion, new research may finally identify the causes of autism. In regards to a cure, there may never be one. Doctors may only be able to inform individuals who are at high risk to have an autistic child.

One thing is for certain, the numbers of individuals who are on the autism spectrum are increasing rapidly and there is no sign that those numbers will decrease any time soon. The key to assisting individuals on the autism spectrum is early intervention and supplemental services.

Cited Works

Swartz Aimee, Newsweek.com, 09, Sept. 2016.