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Counting Concussions, Genetics and Autism, Child Injury Prevention, and Gun Violence

Published on June 3, 2016 in Cornerstone Blog · Last updated 6 months ago


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If you’re among those of us who keeping mixing up your workdays following the holiday, yes, it’s already Friday. And you’re just in time for our weekly In the News highlights. Catch up on the latest news about counting concussions, insights into duplication of genes and autism, a new research portfolio for child injury prevention, and a look at recent local legislative testimony on gun violence delivered by Violence Prevention Initiative (VPI) representatives.

Study Reveals Gap in U.S. Pediatric Concussion Estimates

Researchers are working hard to fill in many gaps in knowledge about pediatric and adolescent concussions using the large and diverse electronic health record available at The Children’s Hospital of Philadelphia. Their latest findings suggest that the U.S. may be underestimating the incidence of pediatric concussions because those counts currently are based solely on emergency department (ED) visits or organized high school and college athletics data.

A study team led by Kristy Arbogast, PhD, co-scientific director of CHOP’s Center for Injury Research and Prevention (CIRP), retrospectively analyzed more than 8,000 concussion diagnoses over a four-year period (July 2010 - June 2014), among children up to 17 years who received their primary care within the CHOP regional pediatric network. During that period, primary care visits as the point of entry increased 13 percent, with a corresponding 16 percent decrease in point-of-entry ED visits. The study appeared in JAMA Pediatrics.

Typically, compared to more specialized settings, a primary care practice can see injured patients sooner, thus getting them on the proper path for treatment earlier. Key to recovery from a concussion is early diagnosis and treatment — including early cognitive and physical rest — followed by a supervised return to learning and activity.

Among the study participants, 82 percent had their first concussion visit with a primary care pediatrician, 12 percent went to the ED, 5 percent first saw a specialist (sports medicine, neurology, trauma), and 1 percent were admitted directly to the hospital.

"We learned two really important things about pediatric concussion healthcare practices," Dr. Arbogast said. "First, four in five of this diverse group of children were diagnosed at a primary care practice — not the emergency department. Second, one-third were under age 12, and therefore represent an important part of the concussion population that is missed by existing surveillance systems that focus on high school athletes."

Learn more about this study by reading CIRP’s Research in Action blog and see the press release. Don’t miss the infographic.

22q11.2 Duplication Associated With Behaviors Common in Autism

Researchers from CHOP’s Center for Autism Research (CAR) found that anxiety, depression, and ADHD-like symptoms are associated with variants on a stretch of DNA along chromosome 22, a region known as 22q11.2, specifically when pieces of this DNA were deleted or duplicated. Their findings also suggest that duplication of DNA on chromosome 22 is linked to repetitive behaviors common in autism spectrum disorder (ASD). CAR's Director Robert Schultz, PhD, explained to the autism news site Spectrum that the discovery only became possible thanks to recent advances in genetic testing.

“Our study hints that duplication of genes in this region might be more specific for autism than the deletion is,” Dr. Schultz said in the news report.

Tara Wenger, MD, PhD, a former pediatrics genetics fellow at CHOP who is now an assistant professor at the University of Washington, was the lead author of the study that appeared in Molecular Autism. The study team assessed 20 children with the duplication using an extensive parent interview called the Autism Diagnostic Interview-Revised, and, in some cases, the Autism Diagnostic Observation Schedule, which involves clinical observation. Five children qualified for an autism diagnosis.

The study authors concluded that prospective medical screening should be done for all patients with 22q11.2 duplication syndrome, including those diagnosed due to developmental delays and ASD alone.

Center for Child Injury Prevention Studies Launches New Projects

The Industry Advisory Board (IAB) of The Center for Child Injury Prevention Studies (CChIPS) selected 14 new research studies for the 2016-2017 project year. All the projects contribute to ongoing lines of research including advancements in teen driver safety, human volunteer testing, teen driving simulator research, and child passenger safety. The CChIPS IAB also provided continuation funding to multiple projects to deepen its understanding of specific scientific questions of interest to industry and academia. Here’s a quick look at some of the studies:

Teen Driving: Several newly funded studies utilize data from the SHRP2 naturalistic driving dataset, a vast database of qualitative and quantitative data recorded from inside vehicles while on the road, chronicling more than 50 million drives. CChIPS IAB has invested in a purchase of these data so that Center scientists can analyze and understand adult and teen driver behaviors which lead to crashes, as well as their specific reactions in emergency situations. In addition to SHRP2 data, CChIPS researchers will investigate how a driving simulator may be used to better understand driving behavior and human aptitude for regaining control in an emergency, with a focus on novice versus experienced drivers.

Child Passenger Safety: Several studies will examine multiple facets of how child restraint systems are used and how they perform in various crash scenarios. Additionally, CChIPS will continue investigations into how consumers use and perceive child restraint systems.

Regulatory Tests and Devices: A continuing line of research explores how revisions to NHTSA’s Federal Motor Vehicle Safety Standards 213 Bench, intended for use in regulatory sled tests, compare to real vehicle seats. Another study focuses on the strength and stability of LATCH anchors, which are safety systems used to attach child restraint systems to vehicles.

Read more in the Research in Action blog. Visit the CChIPS website to learn about the 100+ projects CChIPS investigators have completed. And enjoy a feature story in the Research Institute’s Annual Report that celebrated CChIPS’ 10-year anniversary.

VPI Representatives Raise Gun Violence Awareness

Thursday was National Gun Violence Awareness Day. Did you know that among children and youth age 1-24 years, guns cause two times as many deaths as cancer, five times as many as heart disease, and 20 times as many as infections?

This spring, Joel Fein, MD, MPH, co-director of VPI, testified before a Philadelphia City Council Committee on youth gun violence. Dr. Fein's comments describe research from CHOP on why teenagers in Philadelphia might access a gun.

And Michael Nance, MD, VPI Fellow and director of CHOP's Pediatric Trauma Program, testified at a PA House committee hearing on House Bill 1010, a universal background checks-related bill. Dr. Nance drew from his personal experience as a trauma surgeon at CHOP, as well as his expertise in firearms research.

Access their testimony here.


In case you missed it, earlier this week on Cornerstone we reported on a workshop that brought together researchers from multiple disciplines to examine the overlap between autism spectrum disorder and speech-language variation.

Last week’s In the News roundup featured a special reunion of families who were treated at CHOP’s Center for Thoracic Insufficiency Syndrome, travel safety in back seats, the induction of Douglas Wallace, PhD, into the Italian Academy of Sciences, and two clinical informatics fellows’ top prize in the “Closing the Data Divide” Virtual Challenge.

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