By Maggie Locke, published in our 2016-17 issue

During the first week of October 2016, Duke University hosted a weeklong series of talks from distinguished Chinese researchers. These talks opened the space for collaborations for interested students and faculty. In a talk by physician-scientists Dr. Yi Wang and Dr. Xiu Xu from Fudan University, an overview of the large scale investigation into the causes and interventions for Autism Spectrum Disorders was discussed. Autism Spectrum Disorders (ASD) are on the rise in China, and the Chinese government has recently increased funding for renewed efforts to discover novel interventions in response. Collaborators from within the Duke School of Medicine and Nicholas School of the Environment were also involved in this five-million dollar project, which sought to understand the biomedical roots of diagnosed Autism as well as environmental factors that may contribute to its clinical presentation.

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The massive scale of the project had cross-sectional and longitudinal arms that screened children one to four years old for syndromic autism across eight sites spread across provinces in China. Researchers and clinicians trained teachers and community health members in preparation for the study. The TEACH model, as well as books on clinical interventions for autism, were translated from English to Chinese as well for use in the study. Preliminarily, the study has reported that autism was observed with a 2.72% prevalence, although researchers estimated the total actual prevalence at 4.18%. In the screening process, hair and blood samples were collected for a Biobank. Researchers then processed samples to screen for known genetic deficits or abnormalities. Then, the correlations between genotype and observed phenotype were observed as well.

After analysis of several thousand samples, the study found that less than a third of the autistic phenotype could be explained by inherited genetic deficits or de novo mutations. In fact, the causes for the majority of autism cases were unknown. Thus, the researchers hypothesized that the majority of Autism cases might be caused from preconception and prenatal exposure to air pollution. Exposure may have caused de novo mutations as well as changes in DNA methylation of ASD genes, but the causality of this phenomena has yet to be proved. Due to the increasing industrialization in China and air pollution, the environmental impact on the prevalence of autism and other neurodevelopmental and health disorders will be largely important in the coming decades.

Currently, project proposals are underway for a longitudinal study that will follow couples throughout their pregnancies and follow up with neurodevelopmental evaluations of the children for the first four years of life. This study will allow for a more in-depth analysis of environmental influences as well as present opportunities for evaluation of interventions. Given China’s large population and cohort size available in the studies, these large scale projects present a unique opportunity to gain novel insights into the etiology of Autism. Collaboration on this project is encouraged, and Duke undergraduates are invited to join in on the project as part of Duke Engage. This conference and lecture series was a culmination of a lot of work that has already been done on autism and its increasing prevalence, but much more study is still being planned for the next decades to come.

Picture credit:

"Molecular Network Underlying Autism Spectrum Disorders Identified." BioQuick News, 31 Dec. 2014. Web. 05 Feb. 2017.