Patrick Steadman Aspiring clinician-scientist at The University of Toronto

Autism research, traversing the full spectrum to help children

With a prevalence of one in 88 children, autism has moved to the forefront of discussions amongst Canadian parents. To propel this discussion from the kitchen table to the greater community, the Toronto Star produced a useful series entitled the Autism Project. Yet, little has been discussed on how research is describing brain dysfunction in autism and developing treatments to correct this.

To recap first: autism, as medicine currently defines it, is a disorder where the brain’s processing of information is affected, disrupting communication, sociability and other behaviours.

The Star’s series examined the personal experience of autism from the perspectives of a parent and individuals with the disorder. It highlighted new behavioural therapies, the work being done to study the genetics of autism patients, and the frustrating wait many parents face in getting their child access to behavioural interventions. However, the series missed how research on the biology of autism is translating our knowledge of genetics into new treatments. This matters because this research contains the potential to improve lives and lessen autism’s impact on society.

The brain in autism processes information differently and understanding the details of the process will help facilitate research on new treatments. The federal government recognizes this and has just committed $1-million to funding a Canadian research chair for 5 years to accelerate Canada’s contribution to finding new treatments. This represents a good start to advancing Canadian research on autism.

Canada’s science contribution is accelerating as well. Researchers, as part of an international project, screened over 6000 people with autism to understand the disorder’s genetic factors. This and other work showed that many genetic pieces contribute to the scientific puzzle of autism. Using these genetic factors, a careful examination of the brain’s biological dysfunction in autism can be done to develop new treatments. This includes unraveling changes in brain function, development and structure associated with each genetic piece.

A small success story has come with a specific gene that causes Fragile X syndrome, a disorder closely related to autism. Researchers first laid a foundation for developing treatments by characterizing the Fragile X gene’s effect on brain function and structure. Then, earlier this year, a team at Massachusetts Institute of Technology used this knowledge to reverse the syndrome’s deficits. They corrected brain abnormalities in a model of Fragile X syndrome and improved social engagement in Fragile X patients, all with the same treatment. This case illustrates why establishing new treatments through an understanding of the brain in autism matters.

The Fragile X story is just one piece of the puzzle and many more pieces contribute to autism. To continue progress, knowledge on how genetics change brain function and structure in autism must press on.

Thankfully, almost every month this body of knowledge grows. Since 2011 several models of genetic traits in autism have had biological and behaviour problems reversed using targeted treatments. For example, this month researchers at McGill University announced successful correction of behaviour and biological shortfalls in a new genetic model of autism. Though this work is not ready for humans, it does strengthen the foundation on what exactly is going awry in the brain.

These frequent advances help build an understanding of the biological pathways affected in autism and some successful ways to therapeutically target the brain for treating the disorder.

Although the mountain to climb in autism research remains high, great gains have been made. We now know that the genetic contribution to autism is strong and that many different genetic factors cause the disorder. Discussions on autism now must include new research focused on deciphering the disorder’s biological riddle. Solving this enables science to translate its genetic knowledge to better treatments for individuals with autism.

Going forward, the key to further success will be translating the genetic factors to treatments that improve the lives of children and adults with autism. Furthermore, more genetic models will need to be investigated to form a comprehensive picture of autism and in deciding which targeted treatments to use. Only further support from the government and public in funding autism research can empower scientists to answer these remaining questions.

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