Detecting autism in urine or blood?

This research is particularly relevant as the number of young people on the autism spectrum continues to rise. In Quebec, 17 times more young people under the age of 24 are diagnosed compared to the year 2000, according to data from the Institut de santé publique du Québec (INSPQ).

“Our goal is truly to improve the early detection of patients. Symptoms often appear when children are around two years old, but reaching a final diagnosis can take four to five years. Studies (Elder 2017) have shown that interventions before the age of four are associated with improvements in cognition, language, and adaptive behavior,” explains the biochemist and professor-researcher at the CHUS Research Center.

The first step is to collect samples from patients who have been positively diagnosed with autism and are not undergoing treatment, to obtain an accurate picture. Dr. Çaku, a physician-biochemist, is responsible, among other things, for patient recruitment.

In her mass spectrometry laboratory, Christiane Auray-Blais and her colleagues will conduct a metabolomic analysis of the samples to identify the most relevant molecules and detect biomarkers—indicators that could be associated with autism.

“Over the years, the expertise we have developed in identifying biomarkers for Fabry disease, Gaucher disease, and Hunter syndrome, for example, allows us to apply it to other conditions such as autism or cystic fibrosis,” adds the professor, who is passionate about research and hopes to find key differences between autistic individuals and the control group. “I often say, if you don’t look, you won’t find!”

A Well-Deserved Recognition

Last February, Christiane Auray-Blais received the King Charles III Medal for her outstanding contribution to research and science. This distinction was awarded to her by the Minister of National Revenue, the Honorable Élisabeth Brière, Member of Parliament for Sherbrooke. Congratulations!

Elder, J.H., Kreider, C.M., Brasher, S.N., Ansell, M. Clinical impact of early diagnosis of autism on the prognosis and parent-child relationships, Psychol. Res. Behav. Manag. 10 (2017) 283-292.