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Friday, October 23 2015

The “discreet” autism of girls

Best neuroscience paper of the year awarded to geneticist Sébastien Jacquemont

MONTREAL, October 23, 2015 - Dr. Sebastien Jacquemont, an associate professor of pediatrics at the University of Montreal and medical geneticist and researcher at the affiliated mother-child hospital CHU Sainte-Justine won the La Recherche 2015 award in the "Neuroscience" category. He was awarded this honor for his paper entitled "A higher mutational burden in females supports a female protective model in neurodevelopmental disorders" that was published in the American Journal of Human Genetics in 2014. He received the award on the 12th award ceremony held in Paris by the famous French science magazine La Recherche on October 22, 2015.

Jacquemont’s article reveals the results of a study conducted on several cohorts, including one of 15,000 children and adolescents who were diagnosed with a neurodevelopmental disorder, and one of 2,500 families, in which at least a member was diagnosed with an autism spectrum disorder (ASD). The study aimed to elucidate the excess of boys diagnosed with ASD compared to girls, a fact that had long been observed by clinicians.

In analyzing the genetic mutations in these cohorts, the researcher found that affected girls proved to carry a lot more severe mutations. In contrast, those with milder mutations were largely underrepresented. "The distribution of mutations is close to being homogeneous among males and females in the population. Hence, our finding raises a troubling question: Why are girls with mild mutations not referred to the clinic for a neurodevelopmental disorder diagnosis", Jacquemont asks. The assumptions are numerous, but need yet to be verified. "Are girls naturally protected against the symptoms of the disease, or do they suffer in silence? Or notwithstanding their mutations are equivalent to those of boys, are they referred to other specialists on the basis of a different symptomatology”, he wonders. “We’re facing a knowledge gap here, that scientists need to bridge."

The award recognizes the best of neuroscience research papers published by scientists of French-speaking countries. It is awarded by a jury chaired by the secretary general of the French Académie des sciences, Ms. Le Douarin and composed of journalists and scientists in the field of neuroscience. The jury awarded the prize after reviewing the most important scientific papers that were published in journals in the year of 2014. The scientific magazine La Recherche will publish an article featuring Jacquemont’s results in its next issue.

Dr. Sébastien Jacquemont’s research interests focus on the genetic origins of neuropsychiatric disorders. His research team draws on the sources of genetics, neuroimaging, biochemistry and clinical observations to decipher how genetic mutations lead to neuropsychiatric symptoms and disability in patients.

About the CHU Sainte-Justine Research Center 

CHU Sainte-Justine Research Center is a leading mother-child research institution affiliated with Université de Montréal. It brings together more than 200 research investigators, including over 90 clinician-scientists, as well as 360 graduate and postgraduate students focused on finding innovative prevention means, faster and less invasive treatments, as well as personalized approaches to medicine. The Center is part of CHU Sainte-Justine, which is the largest mother-child center in Canada and second most important pediatric center in North America. More on research.chusj.org

University of Montréal is officially known as Université de Montréal

CHU Sainte-Justine

Marise Daigle, CHU Sainte-Justine Research Center



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Updated on 10/23/2015
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