A lot of research on autism spectrum disorder (ASD) is looking at the genetic makeup of individuals with ASD and their family members for a number of reasons. If it can be determined that a specific gene or genetic combination is reliably related to ASD, then the presence of that gene or combination could be useful in arriving at earlier and more accurate diagnosis. It might also provide a genetic component to treatments that are likely to be of greater benefit to the individual.
A team of researchers in Australia has recently reported on a small (40 families) study with some findings that are interesting and intriguing. Among the information available in their report:
- There are more than 1000 genes that have shown a link to ASD. Just imagine how many different combinations can exist with a number this high! It certainly explains why there is so much variability in how ASD presents itself in different individuals.
- The researchers found that no two individuals with ASD have the same genetic signatures. The cliché “When you’ve met one person with ASD, you’ve met ONE PERSON with ASD” – Every person is different and the way ASD is expressed and effects each person is different. Now we know this is more than a cliché – it is a genetic reality.
- They found evidence that in some children, the genetic variants related to ASD were inherited from parents. But they also found that in 28 of the 43 children with ASD the variants were newly occurring (de novo).
Does this research have any immediate value? Can we use the findings right now to help those with ASD and their families? At first glance, one is tempted to say “no”, but I don’t believe the answer is quite that simple. This is a single, small research project involving 40 families comprising 43 children with ASD, a total of 142 participants (parents, children with ASD, and siblings without ASD). Additional studies involving more and more participants will need to confirm the findings of this study before it can be considered generalizable. So what does it do? Does it provide us with enough information to diagnose ASD through genetic testing? No. Does it give us information that can be used to create the ideal intervention to help those with ASD? Again, no.
The research does tell us that there is a real reason we see so many different expressions of ASD – it is not our imagination, there is a genetic component to that. It provides further support for the belief that ASD has genetic causes as well as “environmental” causes (I put this in quotation marks because the meaning here is very different than air quality and global warming). And, with over 1000 genes that create many times that number of genetic combinations related to ASD, there is simply not going to be a “best treatment” for all children with ASD.
It means we will continue to evaluate and treat each person with ASD as the unique individual he is. It means the “right treatment” for an individual is that which best meets his needs and helps achieve the goals of the client and his family. And it strongly suggests there is no simple, single cause of ASD.
You can read about this research in a release from the University of Queensland. And for those of you who want to get into the details of the research and the specifics of the findings, you can find the full project publication in Translational Psychiatry online.
Russell J. Bonanno, M.Ed.
TAP Program manager