ADHD Symptoms, Skull Formation, Vision Disorders After Concussion

MCCANNN [at] chop.edu (By Nancy McCann)

CHOP Research in the News

In this week’s roundup of research news from Children's Hospital of Philadelphia, read about a new diagnostic tool for ADHD that uses existing electronic health records to distinguish ADHD symptoms from related conditions, learn about which genes are involved in skull development, and a new AAP policy statement on vision disorders after head injuries authored by one of our own concussion experts.

New Algorithm Distinguishes ADHD Symptoms from Related Conditions

Hakon Hakonarson, MD, PhD

Researchers from the Center for Applied Genomics (CAG) established a new algorithm that uses existing electronic health records to distinguish patients with attention-deficit hyperactivity disorder (ADHD) alone versus patients who present with ADHD and a variety of related comorbidities. This electronic algorithmic approach could help reduce the diagnostic odyssey that many patients with this condition face and help direct them toward more personalized treatment options. The Journal of Neurodevelopmental Disorders published the findings.

ADHD is a complex condition affecting between about 5% and 8% of school-age children and 2% to 4% of adults, with many possible causes. ADHD can be difficult to diagnose because there are three different types, and it exists on a spectrum. Diagnostic challenges are compounded by a series of other conditions, such as learning disorders, sleep disorders, or anxiety disorders, that affect about half of patients with ADHD.

“Our goal with this algorithm was to establish a tool that could be used to automate future genetic analyses and improve diagnostic yield and precision in future studies,” said senior study author Hakon Hakonarson, MD, PhD, director of CAG. “With the high positive predictive values achieved by this algorithm, we believe we have developed a robust and useful tool for identifying appropriate datasets and successfully distinguishing between groups of patients. It’s possible that these groups — with or without comorbidities — may respond differently to medication, which could help us design better and more effective methods for therapeutic intervention.”

See this press release and this PhillyVoice article to learn more.

Study Reveals Cellular and Molecular Mechanisms of Skull Formation

Véronique Lefebvre, PhD

A new study by CHOP researchers helps explain which genes are involved in skull development, and it provides an atlas that describes which and how cell types participate in different aspects of the developmental process. The findings were published in Cell Reports.

Using single-cell RNA sequencing (scRNA-seq), the researchers worked with an animal model to characterize the types of cells present in the skull during development. Through their analysis, the researchers found that the expression of the SOXC transcription factors SOX4 and SOX11 was widespread and strong in early stages of skull development, but faded over time. These factors contributed to ensure the development of skull bones, sutures (the fibrous bands of tissue connecting the skull bones), and the cranial dermis. The research team also found that SOXC specifically promoted the development of highly proliferating and myofibroblast-like progenitor cells and promoted the expression of key genes responsible for these cells’ unique properties.

“We hope that the SOXC activities presented in this paper are not limited to skull development,” said senior author Véronique Lefebvre, PhD, an investigator in the Translational Research Program in Pediatric Orthopaedics at CHOP, “but also inform our understanding of gene expression signatures in many other developmental processes, as well as diseases like cancers, which have been linked to SOXC overexpression. Uncovering how these processes work will improve our understanding of multiple conditions across the disease spectrum.”

Marco Angelozzi, PhD, a postdoctoral fellow in the Lefebvre's Lab, led the research.

To learn more go to CHOP News.

New AAP Policy Statement on Vision Disorders After Concussion

Christina Master, MD

Christina Master, MD, a sports medicine pediatrician and co-director of the Minds Matter Concussion Program at CHOP, is lead author of a new policy statement and the companion clinical report released by the American Academy of Pediatrics. The statement and report provide guidance and clarity to pediatricians for the evaluation of vision symptoms during concussion diagnosis and recovery.

Concussion, a common childhood injury, affects 1.4 million children and adolescents nationwide each year. Many of these concussions occur during sports or other recreational activities, and patients can experience difficulty reading, blurred vision, trouble focusing, and eye fatigue as possible symptoms. Most children and teens with visual symptoms after concussion will recover on their own by four weeks, but up to one-third may need to be referred to a specialist for further assessment and treatment. Early identification and appropriate management of visual symptoms may help lessen the negative effects of concussion on children and adolescents and their quality of life while they recover from a head injury.

“Children are not always able to describe their symptoms clearly, and so these screening and diagnostic tools will help guide physicians when evaluating patients with concussions,” said Dr. Master, who also led several studies conducted by CHOP’s concussion researchers that helped inform this significant set of recommendations. “It’s important that we identify any problems with vision. They can have an enormous impact on a child or teen’s daily routines and quality of life.”

Go to CHOP News or this AAP press release for more information. Or read Dr. Master’s post in Research In Action, the official blog of the Center for Injury Research Prevention.

ICYMI

Catch up on our headlines from our July 8 In the News:

• CHOP Researchers Present at 25th Annual ASGCT Meeting
• FDA Grants Special Designation to Friedreich's Ataxia Treatment
• CHOP Appoints New Chief of Nephrology

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