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Community Newsletter: Whole-genome sequencing from Korea, a question of causality, early milestones

by  /  7 August 2022
Speech bubble formed by a network of communication

Illustration by Laurène Boglio

Ready for a cram session? The discussion on Twitter this week was quite, well, studious, with deep dives into three studies and a philosophical discussion about language and thought.

Starting things off, Joon An, assistant professor of biosystem and biomedical science at Korea University in Seoul, tweeted about a study in which he and his colleagues generated whole-genome sequences from 242 Korean simplex families in order to better understand how de novo mutations (DNMs) affect chromatin interactions in people with autism.

His results indicated that “non-coding DNMs in ASD probands lead to early neurodevelopmental disruption implicated in ASD risk via chromatin interactions.”

In the same thread, he pointed out that it is hard to receive funding for autism research in Korea, even though “we know that non-European population is needed for genomics.

In a reply, Jack Kosmicki, a statistician at Regeneron Genetics Center in Tarrytown, New York, remarked that the lack of funding is disturbing and asked, “Is that unique to ASD or does it expand to other neuropsych disorders?”

“It’s for most neuropsych disorders,” An replied, pointing out that more experience is needed in large-scale genomics. “It’s not very common in our country (partly because hard to get fund in this kind of research).”

In a separate thread, Robyn Wootton, a genetic epidemiologist at Lovisenberg Diakonale Sykehus in Norway, shared her paper in which she and her colleagues assessed the association between polygenic scores for autism, and several other neurodevelopmental conditions, and 37 pregnancy-related predisposing factors.

The study results showed that “polygenic scores for ADHD, autism and schizophrenia were associated with many of these pregnancy variables. Therefore, the association between the pregnancy variables and offspring neurodevelopmental conditions might not be causal.” Wootton tweeted that the results “indicate that future studies exploring pregnancy risk factors for ADHD, autism and schizophrenia need to account for this genetic confounding.”

Fascinating paper!Brian K. Lee, associate professor of epidemiology and biostatistics at Drexel University in Philadelphia, Pennsylvania, said in a quote tweet, reiterating the central point.

In another quote tweet, Jonathan Roiser, professor of neuroscience and mental health at University College London in the United Kingdom, called the paper “incredibly important work on genetic confounding from the MoBa dataset,” pointing out that many neuroscientists are unfamiliar with this issue that “is going to become a big deal over the next few years.”

Spectrum also reported on the research last week.

The week continued with another ‘key context’ paper. In a tweet thread from Susan Kuo, a postdoctoral researcher at the Broad Institute of MIT and Harvard in Cambridge, Massachusetts, she shared details of her cross-sectional study that sought to “understand just how much autistic individuals vary in early developmental milestone progress, such as starting to walk or talk.”

The results demonstrated “substantial developmental variability across different conditions and provides important context for understanding the phenotypic and etiological heterogeneity of autism.”

In the thread, Kuo went on to explain that “we found that autistic children on average reached their milestones 1-20 months later. The delays were longer for later milestones, like speaking, than earlier milestones, like smiling,” when compared with their non-autistic siblings.

In a reply, Alycia Halladay, chief science officer of the Autism Science Foundation, asked if the researchers had found a difference between boys and girls in the study, also thanking Kuo for “not just the paper but breaking it down on social media (of all places).”

“Important findings … on developmental variability in a study of over 17,000 autistic children,” tweeted the Center for Genomic Medicine at Massachusetts General Hospital in a quote tweet.

Stay tuned for Spectrum’s Q&A with Kuo and her adviser, Elise Robinson, about the paper next week.

And finally, it’s time for a ‘study break’: One intriguing thread explored language and thought in a debate that would be right at home in a lecture hall or late-night, deep-thought discussion session in the dorms.

“The relationship between language and thought has long been pondered and debated. It may be one of the deepest and most exciting questions in cognitive science,” wrote Ev Fedorenko, associate professor of psychiatry at the Massachusetts Institute of Technology, who started the thread that soon grew into a huge discussion.

Here are some highlights, but the thread is worth checking out in full.

Do we need language to think? Does language we speak influence how we think? Wrapping up thoughts on four questions on language and thought,” pondered Aleksandra Dobrego, doctoral researcher in cognitive linguistics at the University of Helsinki in Finland, in a quote tweet.

“I think this is a great starting point for attempts to classify the more specific/subtle affects in which language can affect thought,” tweeted Michael Pleyer, assistant professor at the Faculty of Humanities at Nicolaus Copernicus University in Toruń, Poland.

Richard Firth-Godbehere, author of “A Human History of Emotion,” tweeted that he found the thread interesting, with a small caveat: “I do believe emotion research demonstrates that language has a more profound effect on how we perceive the world than Ev suggests here.”

What do you think about the relationship between language and thought? Homework assignment: Let us know in the comments, and be sure to read through that entire thread!

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

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