by Katie Hamilton
On the 12th and 13th of September I was privileged to attend the 16th Society for the Study of Behavioural Phenotypes International Research Symposium at the Stellenbosch Institute for Advanced Studies. This conference brought together international researchers and clinicians with experience in a variety of developmental disorders. The focus of the conference was exploring the biological bases of different disorders and the different clinical presentations within these disorders. Autism was one of the disorders under discussion.
I presented the preliminary results from my research towards my Masters in Clinical Neuropsychology. My research focused on the relationships between Autism Spectrum Disorder, Theory of Mind, and a candidate gene that is involved in the regulation of serotonin.
Theory of Mind is a form of social cognition that allows you to understand that other people have their own thoughts, emotions, and beliefs, and that these are separate to your own. We know that Theory of Mind development is often undermined in Autism, and as such we wanted to know whether it was it is a symptom on its own, or whether problems with Theory of Mind are because of one of the other main symptoms in Autism.
We were interested in serotonin because approximately one third of children with Autism present with increased serotonin in their bodies, but their symptoms are characteristic of someone who has too little serotonin. Serotonin is a natural chemical created in your body that is used in your brain for many different functions, one of which is social functioning. When someone has too little serotonin, they may struggle to cope in social situations, may have difficulties with anxiety, and have other mood difficulties. The specific gene we are investigating, called the Serotonin Transporter Promoter Length Polymorphism, or 5-HTTLPR, controls how effectively the brain uses serotonin. Therefore differences in this gene in people with Autism might explain the anxiety, difficulties with social functioning and difficulties with mood regulation associated with the condition. 5-HTTLPR has different forms or “polymorphisms” which affect this use of serotonin, so I wanted to see how different symptoms presented depending on whether children had the polymorphisms with typical serotonin transmission, or with reduced transmission.
I found that a certain polymorphism of the 5-HTTLPR gene may be involved in social communication within Autism, and we should therefore explore the serotonin system in greater detail to fully understand how this relationship works, and how to best use this information to assist individuals on the spectrum. Contrary to what was expected, I did not find relationships between Theory of Mind and measures of social competence, despite this being a relationship reported in typically developing individuals. Overall, my research concluded that we are getting closer to understanding how the 5-HTTLPR gene and serotonin are implicated in Autism Spectrum Disorders, but that there are still several other factors that need to be considered before we can draw clear behavioural profiles for each form of the gene.
I was honoured to meet with several international researchers and clinicians who are experts in the separate areas of my research. I was able to discuss my current research, as well as planned future research, and they provided invaluable advice. I learnt a great deal from these interactions and from the research presented. I believe that valuable progress is being made in genetic and biological research. Thank you to all the parents, children, and schools who make it possible for us to conduct this research. With each project we are another step closer to better understanding Autism.