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Spectrum: Autism Research News

Community Newsletter: NICE errors, CUL3 and autism, equitable academic evaluations

by  /  4 April 2021
Speech bubble formed by a network of communication

Illustration by Laurène Boglio

Hello, and welcome to the Community Newsletter! I’m your host, Chelsey B. Coombs, Spectrum’s engagement editor.

A lot of online chatter in the autism research community this week swirled around a letter published in The Lancet, titled “Erroneous NICE guidance on autism screening.

The researchers who wrote the letter had discovered that the United Kingdom’s National Institute for Health and Care Excellence (NICE) offered incorrect recommendations for use of the 10-item Autism Spectrum Quotient (AQ10), a measure commonly used to screen for autism in adults. NICE had set the cutoff for a referral to an autism diagnostic specialist at a score of 7 or higher, when in fact it should be 6 or higher.

“The insufficiently sensitive implementation of this screening tool will be contributing to missed referrals, diagnoses, and opportunities for intervention,” the researchers wrote.

Educational psychologist Ismail Mamaniat commented, “The difference one point can make for diagnosis.”

James Kirkbride, reader in epidemiology at University College London in the U.K., tweeted, “This is a good example of the impact & implications of changing threshold values on clinical & public mental health.”

Paul Whiteley, director of Education and Services for People with Autism (ESPA) Research in the U.K., wrote that although the commentary made headlines about missed autism diagnoses, there is “not yet any evidence for this. Diagnosis is different from screening.”

Lucy Livingston, lecturer in psychology at Cardiff University in Wales, replied to Whiteley, saying, “If GP’s are using the wrong cut-off + poor clinical opinion, people may not get referred onto specialist diagnostic services. Worth investigating if it has had an impact on missed diagnoses.”

Our next featured tweet this week comes from Jonathan Sebat, professor of psychiatry and cellular and molecular medicine at the University of California, San Diego. Sebat and his colleagues published a new study in Molecular Psychiatry called “Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling.”

“Another piece of a very big puzzle falls into place,” Sebat wrote.

The researchers wanted to find out how mutations in the gene CUL3, which are associated with autism and developmental delay, affect brain development. Mice missing one copy of the gene showed social and cognitive issues, decreased cortical volume and differences in other brain regions during early postnatal development. “Key drivers” of these changes, the team says, are neurogenesis and cytoskeletal defects.

Tom Nowakowski, assistant professor of anatomy at the University of California, San Francisco, said it was a “very interesting story!”

Alex Shcheglovitov, assistant professor of neurobiology at the University of Utah in Salt Lake City, wrote, “Yet another ASD-associated gene Cul3 disrupts cortical neurogenesis.”

Diogo Lovato, a researcher at the biotechnology startup TISMOO in São Paulo, Brazil, commented, “That is the kind of work I really appreciate as we still need to clarify hundreds of molecular mechanisms and no ‘big data’ will solve it all. We need more bench workers!”

Our final tweet is from Lucina Uddin, associate professor of psychology at the University of Miami in Florida, highlighting her new commentary in Nature Neuroscience with Andres De Los Reyes, professor of psychology at the University of Maryland at College Park, called “Revising evaluation metrics for graduate admissions and faculty advancement to dismantle privilege.”

Uddin and De Los Reyes came up with the idea for the commentary after a conversation about diversity, equity and inclusion in academia at a 2020 professional development conference.

The commentary argues that academic institutions should move away from metrics such as GRE scores and grade point averages for graduate school applications and publications and h-indices for faculty hiring and tenure, and toward “a holistic approach that more adequately considers each individual scientist’s personal experiences and contributions to society.”

As an example, they cite a 2020 paper, “Reimagining merit and representation: Promoting equity and reducing bias in GME through holistic review,” published in Academic Psychiatry. That study evaluated psychiatry residency applicants with a traditional model, a holistic model and a hybrid traditional-holistic model. The holistic model used non-traditional criteria such as community service and leadership experience, and took into consideration people’s personal hardships.

“The holistic model resulted in significant, large increases in invites to under-represented minority applicants (predicted probability of invite = 0.16) relative to the traditional model (predicted probability of invite = 0.08),” they write.

“I love this!! … I have a few extra beefs with GRE … and emphasis on ‘truly’ holistic … but well done,” Damien Fair, professor and director of the Masonic Institute for the Developing Brain at the University of Minnesota in Minneapolis, replied to Uddin’s tweet.

“I hate (and did not do well) on the GRE. Truly holistic reviews are difficult to implement, but necessary!” Uddin responded.

“I think we are severely messing with any remaining GRE to positive ‘Professor rank’ correlations,” Fair said.

Touching on another theme of the piece, Bita Moghaddam, chair of the behavioral neuroscience department at Oregon Health & Science University, wrote, “I remain concerned about admissions & faculty hiring committees putting major emphasis on “fit” and identifying “mismatch” as weakness.”

Anaïs Stenson, research associate at Wayne State University in Detroit, Michigan, wrote that graduate and postdoctoral funding is also key for retention of people from underrepresented groups.

As an example of how this approach could be put into practice, Michael Breakspear, professor of systems neuroscience at the University of Newcastle in Australia, cites a program that his university put into place to enroll, train and mentor Indigenous doctors.

That’s it for this week’s edition of Spectrum’s Community Newsletter. If you have any suggestions for interesting social posts you saw in the autism research sphere this week, feel free to send an email to me at [email protected]. See you next week!