World First: Redefining autism spectrum disorder

15 March 2011

The world of 3D technology is hot — and cool — because it allows us to see things in a whole new way. And not just for movie-goers. For Dr. Suzanne Lewis, geneticist, pediatrician and MSFHR 2005 Career Investigator, 3D imaging enabled discoveries that could literally redefine autism spectrum disorder (ASD) as we know it today. The imaging is used to help detect what can't be seen — at least with the naked eye.

Lewis' research team and collaborators applied a 3D digital camera and imaging technology normally used for reconstructive surgery applications to measure physical differences in the faces of boys with ASD — physical differences that might act as indicators of underlying brain structure and processes that in turn could be used to detect the presence of ASD at an earlier stage.

Their findings have significantly advanced the world of ASD research and diagnosis. Lewis' work was named one of the top 10 research papers in Canada by the Center of Excellence in Early Childhood Development (CEECD). Consequently, other groups are now looking at using 3D imaging in ASD.

Typically, ASD is thought of as a behavioural disorder. But the 3D imaging used in Lewis' work clearly shows associated physical features stemming from early embryonic development.

"To see a physical association so surprisingly consistent and striking speaks to the genetic origins of the condition," says Lewis. "No one had examined autism in quite this way."

Furthermore, Lewis' research and collaborations with genomics researchers have identified previously unknown syndromes that have turned out to be important causes of autism and related developmental disabilities.

"We've defined several new syndromes that enable us to better understand and recognize the different causes and presentations of autism at earlier stages, as well as what's unique about these cases to help inform individualized therapy and future health needs," she says. "I receive emails from people all over the world who are increasingly recognizing these new genomic syndromes in individuals with autism assisted by what we have described in our papers."

To put these findings in context, Lewis likens them to the development of our understanding of cancer. While cancer has been defined as an illness, there are in fact many different types of cancers and they do not behave the same way nor require the same treatments based on their genetic origins and specific pattern of symptoms.

"Once a unique cancer is diagnosed, it can be treated on an individualized basis to optimize outcome," explains Lewis. "Everyone says, 'that's autism' — as if that's the final diagnosis, but I'm convinced that autism will be redefined and therefore more effectively treated based on its genomic causes, in the same way cancer therapies are rapidly evolving."

Lewis's research on ASD is one of many noteworthy achievements of MSFHR Career Investigators identified in a new report that analyses MSFHR's Career Investigator Program and its contribution to building BC's health research capacity. Read the report (PDF)