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Community Newsletter: Families in crisis; genetics mystery; health determinants

Recent Twitter threads explore a new approach to autism diagnosis, a mysterious genetic region and social determinants of health.

We are in a crisis. People are waiting years to get the #autism services they need. Families are suffering,” tweeted Sarabeth Broder-Fingert, associate professor of pediatrics at the University of Massachusetts Chan Medical School in Worcester, this week. 

The issue, she explains in an Autism Research commentary, is that “long wait lists for diagnostic evaluations and limited specialty workforce have created substantial delays.” As a solution, she proposes an approach in which pediatric primary care physicians “can rule in or rule out autism in children, for whom diagnosis is clear, and refer more complex cases for specialist evaluations.”  

To get children access to the services they need quickly, Ashley Darcy-Mahoney, director of infant research at the George Washington University’s Autism and Neurodevelopmental Disorders Institute in Washington, D.C., proposed also “including PNPs, Psych Mental Health NPs and some of the work Corticacare.com has been doing with Welcome Visits.”  

Helen Tager-Flusberg, director of Boston University’s Center for Autism Research Excellence, tweeted that it is “so important to change our system now and prevent delays for future children and families.” 

This next thread sheds light on a mysterious genetic region linked to autism.  

“Both common and rare genetic variants are relevant for autism. But are they biologically convergent?” Dan Weiner, a graduate student at Harvard University, asked in a thread describing his and his colleagues’ new paper in Nature Genetics, which Spectrum covered a preprint of in a previous Community Newsletter.  

The team found that the short arm of chromosome 16 (which contains the region 16p11.2, home to several autism-linked copy number variations) harbors “the greatest excess of autism’s common polygenic influences.” The results tell a “story of unexpected convergence at 16p, a region of long-standing mystery in autism research,” according to Weiner.

Moving on to a study of different kinds of regions, an analysis in The Lancet Child & Adolescent Health of school data from more than 7 million students investigated “the incidence of autism in England as a function of geography and sociodemographics.” 

“New paper out! We analyse social determinants of health on #autism incidence,” tweeted study author Andres Roman-Urrestarazu, director of studies in psychology and behavioral science at the University of Cambridge in England. “We found odds of #autism diagnoses rise up to 1664% in England by ethnic, sex, and socioeconomic deprivation.” 

“These findings are consistent with earlier studies in the US – see Peter Bearman’s CA studies,” tweeted Tager-Flusberg. 

Highlighting one of the researchers’ images, LSE Health Policy tweeted,The likelihood of receiving an autism diagnosis may depend on where you live. 

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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 michael@spectrumnews.org.

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