October 21-27, 2019 is Open Access Week. This yearly celebration is an opportunity for academic and research communities to broaden their knowledge of Open Access publishing, to teach others of its benefits, and to continue efforts to bring Open Access to the forefront by inspiring wider participation and awareness.
Open Access helps authors reach broader audiences and allows anyone to read, share, and reuse research without the restrictions of traditional publishing. With the power to transform how medical and scientific research is conducted, Open Access has direct and widespread implications for academia, medicine, science, and for society as a whole. Over the past 20 years, open research has surged from as few as 523 articles in 2001 to as much as 45% of all new research publications.
Striving to bring the best to our communities, Levy Library provides programming each year that highlights various aspects of scholarly publishing. In 2018, we hosted a mini-conference that offered a comprehensive introduction to the world of Open Access from experts in the field. Earlier this month, in collaboration with the ISMMS Postdoc Writing Group, Levy Library brought together Open Access specialists and Mount Sinai community members for an event focused on the what, why, and how of preprint publishing. Open Access Week is a key opportunity for all members of the community to take action to keep the momentum moving forward.
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Each month Levy Library showcases the achievements of Mount Sinai faculty and researchers by highlighting an article and its altmetrics. Altmetrics are alternative measures of impact that capture non-traditional data like abstract views, article downloads, and social media activity. Our altmetrics data is provided by the PlumX platform.
This month we highlight: Association of Genetic and Environmental Factors with Autism in a 5-Country Cohort. This article was written in part by Behrang Mahjani, Avraham Reichenberg, Sven S. Sandin, and Joseph D. Buxbaum.
Importance
The origins and development of autism spectrum disorder (ASD) remain unresolved. No individual-level study has provided estimates of additive genetic, maternal, and environmental effects in ASD across several countries.
Objective
To estimate the additive genetic, maternal, and environmental effects in ASD.
Design, Setting, and Participants
Population-based, multinational cohort study including full birth cohorts of children from Denmark, Finland, Sweden, Israel, and Western Australia born between January 1, 1998, and December 31, 2011, and followed up to age 16 years. Data were analyzed from September 23, 2016 through February 4, 2018.
Main Outcomes and Measures
Across 5 countries, models were fitted to estimate variance components describing the total variance in risk for ASD occurrence owing to additive genetics, maternal, and shared and nonshared environmental effects.
Results
The analytic sample included 2 001 631 individuals, of whom 1 027 546 (51.3%) were male. Among the entire sample, 22 156 were diagnosed with ASD. The median (95% CI) ASD heritability was 80.8% (73.2%-85.5%) for country-specific point estimates, ranging from 50.9% (25.1%-75.6%) (Finland) to 86.8% (69.8%-100.0%) (Israel). For the Nordic countries combined, heritability estimates ranged from 81.2% (73.9%-85.3%) to 82.7% (79.1%-86.0%). Maternal effect was estimated to range from 0.4% to 1.6%. Estimates of genetic, maternal, and environmental effects for autistic disorder were similar with ASD.
Conclusions and Relevance
Based on population data from 5 countries, the heritability of ASD was estimated to be approximately 80%, indicating that the variation in ASD occurrence in the population is mostly owing to inherited genetic influences, with no support for contribution from maternal effects. The results suggest possible modest differences in the sources of ASD risk between countries.
View the PlumX article profile