Mount Sinai Studies Selected as Top Research Advances of 2017 by Federal Advisory Committee on Autism
U.S. Interagency Autism Coordinating Committee’s annual summary of advances in autism research highlights key work
Five publications from The Seaver Autism Center for Research and Treatment at Mount Sinai were nominated as important advances in autism spectrum disorder (ASD) research by the Interagency Autism Coordinating Committee (IACC), a federal advisory committee that coordinates all ASD efforts within the Department of Health and Human Services concerning ASD, for their annual Summary of Advances report. In addition, two of the 20 studies that were selected to be extensively summarized in the IACC report came from The Seaver Autism Center.
Every year, the IACC releases a list of scientific advances that represent significant progress in the field. The 2017 Summary of Advances provides short, plain-language summaries of the top research breakthroughs selected by the IACC from a pool of research articles nominated by members.
“We are committed to innovative research to understand the causes of autism and improve diagnoses and treatment,” says Joseph D. Buxbaum, PhD, Director of The Seaver Autism Center. “The recognition from the IACC’s Summary of Advances report highlights a selection of our recent breakthroughs and reinforces our Center’s reputation as a leader in the field of autism research and treatment.”
Below are descriptions of Seaver Autism Center studies that were selected to be extensively summarized in the report:
Fetal and postnatal metal dysregulation in autism
Avraham Reichenberg, PhD, Professor of Psychiatry and of Environmental Medicine and Public Health at the Icahn School of Medicine at Mount Sinai and faculty member of The Seaver Autism Center
- Nature Communications (June 2017): Exposure to toxic metals (e.g., lead) and deficiencies in essential nutrients (e.g., zinc, manganese) are known to affect brain development, but whether or not they play a role in ASD remains debated. Investigators from Mount Sinai led an international team that measured levels of metals and nutrients before and shortly after birth in shed baby teeth from twin pairs, in which one twin was diagnosed with ASD. The study found that during specific periods of early development, children who were later diagnosed with ASD show deficiencies in essential nutrients, and higher metal uptake.
Autism risk following antidepressant medication during pregnancy
Avraham Reichenberg, PhD, Professor of Psychiatry and of Environmental Medicine and Public Health at the Icahn School of Medicine at Mount Sinai and, faculty member of The Seaver Autism Center
Sven Sandin, PhD, Assistant Professor of Psychiatry at the Icahn School of Medicine at Mount Sinai and, faculty member of The Seaver Autism Center
- Psychological Medicine (December 2017): The research team showed that maternal medication with antidepressants during pregnancy does not appear to be causally associated with ASD in the offspring. Instead, this association is explained by factors related to the underlying susceptibility to psychiatric disorders. This study uniquely examined specific drugs and provided detailed adjustment for risk associated with parental psychiatric disease.
Below are descriptions of three additional Seaver Autism Center studies that were nominated as important advances in ASD research:
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
Joseph D. Buxbaum, PhD, Professor of Psychiatry, Genetics and Genomic Sciences, and Neuroscience at the Icahn School of Medicine at Mount Sinai and, Director of The Seaver Autism Center
- Nature Genetics (April 2017): The Autism Sequencing Consortium (ASC) is analyzing the largest genetic dataset for ASD, currently with about 38,000 DNA samples and more than 16,000 genes per sample. To accommodate the complexity of these analyses, the ASC develops analytical tools for gene discovery. This paper summarizes a critical new method that takes advantage of very large numbers of population reference samples to map out the properties of each of the 16,000-plus genes that are being analyzed. Since researchers know that many of the genes identified in ASD are crucial for typical development, knowing which genes are very rarely mutated in population samples provides a mechanism by which to focus on those genes in ASD and in other neurodevelopmental disorders. By taking advantage of the results from this paper and other papers looking within each gene, researchers are able to discover about twice as many ASD genes in a given sample.
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
Silvia De Rubeis, PhD, Assistant Professor of Psychiatry at the Icahn School of Medicine at Mount Sinai and, faculty member of The Seaver Autism Center
Alexander Kolevzon, MD, Professor of Psychiatry and Pediatric at the Icahn School of Medicine at Mount Sinai and, Clinical Director of The Seaver Autism Center
Joseph D. Buxbaum, PhD, Professor of Psychiatry, Genetics and Genomic Sciences, and Neuroscience at the Icahn School of Medicine at Mount Sinai and Director of The Seaver Autism Center
- Nature Neuroscience (September 2017): The Mount Sinai research team analyzed sequence data of the largest collection of families (5,947) with ASD available to date in search of postzygotic mutations (e.g., sporadic genetic lesions that occur very early during embryonic development) and found that this class of mutations were more frequent in individuals with ASD that unaffected individuals. They also observed that the genes carrying the mutations were especially expressed in the amygdala, a region of the brain that plays key roles in emotional and social responses. The study demonstrates that postzygotic mutations are important factors contributing to ASD risk.
Examining the Efficacy of a Family Peer Advocate Model for Black and Hispanic Caregivers of Children with Autism Spectrum Disorder
Paige Siper, PhD, Assistant Professor of Psychiatry at the Icahn School of Medicine at Mount Sinai and Chief Psychologist of The Seaver Autism Center
Maria del Pilar Trelles Thorne, MD, Assistant Professor of Psychiatry at the Icahn School of Medicine at Mount Sinai
Alexander Kolevzon, MD, Professor of Psychiatry and Pediatrics at the Icahn School of Medicine at Mount Sinai and Clinical Director of The Seaver Autism Center
Joseph D. Buxbaum, PhD, Professor of Psychiatry, Genetics and Genomic Sciences, and Neuroscience at the Icahn School of Medicine at Mount Sinai and Director of The Seaver Autism Center
- Journal of Autism and Developmental Disorders (May 2017): This study applied a randomized, controlled design to examine the efficacy of a family peer advocate (FPA) model in a racially and ethnically diverse sample. Results demonstrated significantly increased knowledge of ASD and reduced levels of stress for caregivers who received the FPA intervention as compared to treatment as usual. The FPA model provides family-to-family support to facilitate engagement and increase access to care. It may be especially helpful for disadvantaged populations.
To access the IACC 2017 Summary of Advances, please click here.
About The Seaver Autism Center for Research and Treatment at Mount Sinai
The Seaver Autism Center for Research and Treatment at Mount Sinai conducts progressive research studies aimed at understanding the multiple causes of autism spectrum disorder (ASD). The multidisciplinary team is composed of experts in the fields of genetics, molecular biology, model systems, neuroimaging, biomarkers, diagnosis, and experimental therapeutics who are dedicated to discovering the biological causes of ASD. The Center strives to develop innovative diagnostics and treatments for integration into the provision of personalized, comprehensive assessment and care for people with ASD. The Seaver Autism Center was founded through the generous support of the Beatrice and Samuel A. Seaver Foundation. For more information, visit www.seaverautismcenter.org.
About the Mount Sinai Health System
Mount Sinai Health System is one of the nation’s leading integrated academic health systems and one of the largest in the New York metropolitan area. Its comprehensive system includes seven hospitals, more than 400 outpatient practices, over 600 research and clinical laboratories, the Icahn School of Medicine at Mount Sinai, the Graduate School of Biomedical Sciences, and the Mount Sinai Phillips School of Nursing. Together, the Health System comprises approximately 48,000 employees, more than 9,000 physicians, and 8,600 nurses.
As a leading learning health system, Mount Sinai combines clinical expertise with scientific discovery to improve patient care while training the next generation of health care and biomedical leaders. The Health System provides care across every stage of life, from prenatal care through geriatrics, while advancing personalized medicine through artificial intelligence, data science, and biomedical research.
Mount Sinai is consistently recognized among the nation’s leading academic health systems for patient care, research, and education. The Mount Sinai Hospital is ranked No. 1 in New York by Newsweek and No. 5 on the magazine’s World’s Best Hospitals list. The Icahn School of Medicine at Mount Sinai ranks No. 11 among U.S. medical schools and No. 1 among freestanding medical schools for National Institutes of Health funding, reflecting the strength of its scientific enterprise and leadership in biomedical research.
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