In This Section

ONC Award, Vision and Concussions, Raising 22q11.2 Deletion Syndrome Awareness

Published on July 22, 2016 in Cornerstone Blog · Last updated 3 months 3 weeks ago


Subscribe to be notified of changes or updates to this page.

10 + 0 =
Solve this simple math problem and enter the result. E.g. for 1+3, enter 4.

Our weekly installment of In the News keeps an eye out for the latest research happenings. This week we’re excited to report on a second award for an innovative technology solution to access, filter, and harness emerging disease updates. A new study suggests that it is important to recognize vision problems after pediatric concussions and understand their implications for return-to-learn plans. And CHOP experts gathered in northern Italy to share expertise on a multisystem chromosome-based birth defect.

Idea to Impact Population Health On a Winning Streak

You’ll want to get to know this PHRASE. We introduced you to the clinical decision support platform called Population Health Risk Assessment Support Engine this spring, when its creators received an award for their project. Now it appears that Marc Tobias, MD, and Naveen Muthu, MD, of CHOP’s Department of Biomedical and Health Informatics (DBHi), are on a winning streak. This week the Office of the National Coordinator for Health Information Technology (ONC) announced PHRASE as a Phase 1 winner of its Provider User Experience Challenge.

PHRASE is an electronic health record (EHR)-agnostic system designed to identify at-risk populations and provide clinical decision support to health care providers at the point of care. The portal allows for a two-way flow of data: a public health agency provides timely updates about evolving disease and patient risk factors through the system, while clinicians consume these recommendations in the EHR and utilize one-click reporting of disease cases back to the public health department. This platform helps doctors make better decisions based on the very latest public health guidelines and recommendations.

Phase 1 applicants were required to submit a series of plans for their proposed apps, including designs or screenshots, technical specifications, business/sustainability plans, and proposed provider and/or electronic health record vendor partners to test their work. Phase 2 remains open to all potential applicants — including those that did not provide a Phase 1 submission — with submissions due Nov. 7. A grand prize, a second place prize, and an “Ultimate Connector” prize will be awarded, for a total value of $100,000.

Important to Focus on Visual Problems Following Concussion

Binocular visual disturbances, such as convergence insufficiency or the inability to focus on objects up-close, affect nearly half of concussion patients. Although most symptoms resulting from concussion appear to resolve within two weeks, there is growing concern that children may have prolonged visual symptoms, which may require at least one month to recover.

Abnormal near point of convergence (NPC) may be a sign of convergence insufficiency. Doctors at CHOP’s Sports Medicine and Performance Center reported new research that showed of the 275 patients in the study, 67 had abnormal NPC after concussion. Out of those 67 patients, 89 percent recovered from their vision problems at a median of 10 weeks.

“The focus needs to be on developing a return-to-learn plan for children that takes into account these visual factors, in addition to the usual concern about attention and focus difficulties after a concussion,” said Christina L. Master, MD, FAAP, CAQSM, senior author of the study and a sports medicine pediatrician at CHOP. “Abnormal NPC can have a significant effect on a child’s ability to return to the educational setting.”

The study was published in Optometry and Vision Science.

And read more about Dr. Master’s concussion research here.

CHOP Experts Share Chromosome Deletion Syndrome Research at Global Meeting

Chromosome 22q11.2 deletion syndrome is nearly as common as Down syndrome, but is little known to the general public and even to many healthcare providers. Named for the location on human chromosome 22 at which some DNA is missing, this loss of genetic material can have broad lifelong effects on the heart, brain, and overall development and behavior.

“Sharing our research and clinical experience about this condition is crucial to both diagnosing and managing this syndrome — as well as raising public awareness,” said Donna McDonald-McGinn, MS, CGC, associate director of Clinical Genetics at CHOP and director of CHOP’s 22q and You Center.

Dr. McDonald-McGinn was in Sirmione, Italy, this week, acting as program chair for the 10th Biennial International 22q11.2 Conference, which drew participants from 22 nations across four continents. Nearly a quarter of the 133 presentations at the conference were by CHOP clinicians and scientists, from areas such as genetics, plastic surgery, cardiology, fetal surgery, endocrinology, hematology, gastroenterology, immunology, ENT, speech, psychology and psychiatry.

“This list of pediatric subspecialties reflects the wide range of effects caused by this syndrome,” Dr. McDonald-McGinn said. “It also reflects the multidisciplinary, integrated approach we take at the 22q and You Center, the nation’s largest clinical program dedicated to this condition.”

Dr. McDonald-McGinn also co-chaired a pre-conference symposium for the International 22q11.2 Brain and Behavior Consortium, focusing on the biological causes of mental illness related to the syndrome. Rounding out the week, she is chairing a family meeting this weekend that brings together scientific experts with family members of patients.


In case you missed it earlier this week on Cornerstone, guest blogger Chris Gantz, MBA, program manager, Clinical Research Support Office, Recruit Enhancement Core, shared five tips he’s gathered from CHOP clinical trial coordinators and study participants about how researchers can reduce, and in some cases eliminate, barriers to recruitment and retention in clinical trials.

Last week’s In the News post covered the varied costs of asthma care across different hospitals, the impact of state insurance mandates on autism diagnosis and treatment, and an intervention to improve sexual health and disease prevention among young African-American gay men.

Keep up with our news, stories, and updates in real time by following us on Twitter, Facebook, or LinkedIn.

Or join our email list to get a summary of Cornerstone blog posts sent every other Friday by signing up here, or via the box on the upper right of this page.