Autism Spectrum Disorder Found To Be Highly Heritable Interview with:

Sven Sandin, PhD Assistant Professor Department of Psychiatry Icahn School of Medicine at Mount Sinai New York, NY 10029

D. Sandin

Sven Sandin, PhD Assistant Professor
Department of Psychiatry
Icahn School of Medicine at Mount Sinai
New York, NY 10029 What is the background for this study? What are the main findings?

Response: In 2014, we estimated the heritability of autism to be approximately 50%. Motivating us then was the lack of studies in autism heritability using population based and the findings from a twin-study in California finding the heritability to be substantially lower than the 80-90% estimated in previous studies. Since then continued efforts working with the questions on heritability and environmental factors for autism we found differences between different methods and different samples. When we went back to our previous data we found the heritability of autism to be higher than previously estimated. We found that our previous result was due to a methodological artifact where the adjustment for differences in follow-up used in that manuscript underestimated the heritability. Using methods used in other heritability studies the heritability is now estimated to 84%. Importantly, as previously concluded, there is no support for any ‘shared environmental factors’ in the etiology of autism, e.g. environmental factors shared between two siblings. What should clinicians and patients take away from your report?

Response: Autism is a highly heritable disorder where most of the liability can be derived to genes directly inherited from the parents. There is a role for environmental causes specific for each individual, but no support for a liability shared between siblings. What recommendations do you have for future research as a result of this study?

Response: The heritability of autism has now been extensively studied, but verifying the results in different populations with different methods and using different ways of ascertainment and with different health systems is still warranted. Also, for rare disorders, even in large studies these models rely on very few data why research using even larger datasets will be informative. Research should also try to isolate specific risk factors, of genetic or environmental origin and from maternal, paternal or grand parental origin. Is there anything else you would like to add?

Response: Estimating heritability if autism is a challenging task, using highly theoretical models. In the end of the day we need to find specific risk factors or groups of risk factors to understand the etiology and to be able to modify the risk. Thank you for your contribution to the community.


Sandin S, Lichtenstein P, Kuja-Halkola R, Hultman C, Larsson H, Reichenberg A. The Heritability of Autism Spectrum Disorder. JAMA. 2017;318(12):1182–1184. doi:10.1001/jama.2017.12141

Note: Content is Not intended as medical advice. Please consult your health care provider regarding your specific medical condition and questions. 

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