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Community Newsletter: Female protective effect, genetic risk factors, identity-first rejection

by  /  11 April 2021
mouths forming a conversation
Illustration by Laurène Boglio

Hi there! I’m Grace Huckins, Spectrum’s editorial intern, your host for the Community Newsletter this week.

Two new preprints on medRxiv have generated a buzz on Twitter. Both look at how common genetic variants, rare variants and sex interact to affect an individual’s chances of having autism.

The first paper, from Elise Robinson’s lab at Harvard University, considers the relationship between inherited genetic risk and how autism occurs within families. Siblings of autistic girls are more likely to have autism than the siblings of autistic boys, the researchers found, and non-autistic mothers’ genes contribute more to a child’s likelihood of having autism than non-autistic fathers’ genes do. Together, the team says, these findings “support a [female protective effect] against ASD that includes common, inherited genetic variation.”

Study investigator Emilie Wigdor, a graduate student at the University of Cambridge in the United Kingdom, broke down the findings in a Twitter thread.

Meng-Chuan Lai, a clinician scientist at the Centre for Addiction and Mental Health in Toronto, Canada, praised the paper’s “elegant analyses.”


The paper answers some questions but raises others, according to Victoria de Menil, research director at the Stanley Center for Psychiatric Research in Cambridge, Massachusetts.

The second paper comes from the lab of Jonathan Sebat, professor of psychiatry and cellular and molecular medicine at the University of California, San Diego, and examines how various genetic factors together determine the chances of having autism. Analyzing males and females separately, the researchers found that females with autism have greater genetic risk scores, on average, than males with autism. “This is consistent with [the] ‘female protective effect’ in which girls require a genetic load,” Sebat wrote in a thread about the paper.

“What an epic journey of a paper!” tweeted Samuel Katz, a postdoctoral fellow at the National Institutes of Health. “So much to process here.”

David Curtis, honorary professor of genetics, evolution and environment at University College London  in the U.K., piped up with an idea for further analysis.

And Shai Carmi, associate professor of medicine at the Hebrew University of Jerusalem in Israel, brought the two “excellent threads” into conversation with each other.

Our last featured tweet this week provoked strong reactions from both the autistic and science communities. Kristen Bottema-Beutel, associate professor of special education at Boston College in Massachusetts, went viral when she tweeted about having a paper rejected because she didn’t use person-first language. Person-first language (“person with autism”) places the individual before their identity or diagnosis, whereas identity-first language (“autistic person”) leads with the identity label.

“NeuroTribes” author Steve Silberman tweeted that the publication’s decision is out of step with the autistic community, which largely favors identity-first language — for “very good historical reasons.”

Meghan Ellerden, a physician assistant in Fredericksburg, Virginia, chimed in to give some context about why a scientific journal might impose person-first language, even if the autistic community rejects it.

Eric Garcia, author of “We’re Not Broken: Changing the Autism Conversation,” succinctly captured the sentiments of many responders.

That’s all for this week! Feel free to get in touch with me at ghuckins-intern@simonsfoundation.org with any interesting autism- and autism research-related social media discussions. Have a great weekend!


TAGS:   autism, community