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Mental Health, Fontan Circulation, Social Impairment, Gene Therapy

Published on August 20, 2021 in Cornerstone Blog · Last updated 5 months 2 weeks ago


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In the News

limjr [at] (By Jillian Rose Lim)

This week in the news, hold on to your hats: We share our expert's take on COVID-19's effect on the mental health of youth, summarize preliminary data on a gene therapy for inherited blood disorders, and recap new findings on Fontan circulation and social impairment in pediatric brain tumor survivors.

COVID-19 Pandemic Worsening a Youth Mental Health Crisis

Mental health experts at CHOP published a JAMA Pediatrics commentary that said a global youth mental health crisis that began before the COVID-19 pandemic is worsening. In the editorial, the authors, which include our own Tami Benton, MD, Rhonda Boyd, MD, and Wanjiku Njoroge, MD, commented on a meta-analysis conducted by researchers at the University of Calgary and the Alberta Children's Hospital Research Institute. That study found significantly higher rates for clinically significant depression and anxiety for children and adolescents — a more than two-fold increase in prevalence rates compared with pre-pandemic reported rates.

CHOP experts called the data "sobering but not surprising" given COVID-19's effect on children and families globally. They highlighted the need for greater access to evidence-based mental health treatments, particularly for minority populations and disadvantaged and/or marginalized families on whom COVID-19 may have had a disproportionate effect.

"The COVID-19 pandemic is a global call to action," the experts wrote. "We are experiencing a global public health crisis in youth mental health that began long before the pandemic, and we must advocate for implementation of evidence-supported practices that are scalable, expands access to care, and eliminates disparities worldwide. We must lead the charge for equitable mental health care for all children across the world."

Read the full JAMA Pediatrics commentary.

Children With Fontan Circulation May Have Slightly Shorter Stature

New research from the Cardiac Center at CHOP shows children with Fontan circulation exhibit persistent height and weight deficits for up to eight years after their procedure. During the Fontan procedure, an operation used in patients with single-ventricle congenital heart disease (CHD), surgeons create a unique physiology (Fontan circulation) by redirecting the flow of oxygenated blood in and out of the heart. Fontan circulation can result in side effects and complications that are risk factors for poor growth. But researchers had not yet determined which specific factors lead to impaired growth or the potential for recovery.

In the study, published in the Journal of Pediatrics, the researchers analyzed 210 patients in CHOP's Fontan FORWARD Clinic, using the 2000 National Center for Health Statistics Growth Chart to convert their height, weight, and BMI to "z scores." Z scores determine the extent which growth is below or above average. The researchers found that z scores for both height and weight in Fontan patients were below average; furthermore, lab data showed lower levels of alkaline phosphatase and phosphorous levels were correlated with poor growth — thus providing potential biochemical markers for the development of screening tests.

"Our study shows that children with Fontan circulation — and particularly those with [protein-losing enteropathy] — have diminished growth compared with their peers," said senior author Jack Rychik, MD, director of the Fetal Heart Program and the Fontan FORWARD Program at CHOP. "Biochemical markers may be helpful in developing screening tests for high-risk groups and determining who might warrant increased surveillance and nutritional and medical interventions. Long-term studies are needed to determine if patients make up some of these height deficits once they reach their final height."

Learn more in the press release.

Preliminary Data Suggests Gene Editing Therapy for Inherited Blood Disorders is Safe and Effective

A collaborative team of researchers that includes our own Stephan Grupp, MD, PhD, presented preliminary data showing that a CRISPR-based gene-editing therapy for inherited blood disorders, known as CTX001, is safe and effective. The initial findings, published in the New England Journal of Medicine, open the door for potential novel treatments for patients with beta-thalassemia and sickle cell disease (SCD). Until now, beta-thalassemia treatment options include lifelong blood transfusions or stem cell transplants. Meanwhile, SCD treatments include pain management, blood transfusions, and hydroxyurea to increase fetal hemoglobin, with the only curative option being stem cell transplant from a donor.

The one-time gene editing treatment was discovered and developed by Vertex Pharmaceuticals and CRISPR Therapeutics. It's aim is to boost the production of fetal hemoglobin in order to correct the defective gene for hemoglobin that is associated with both beta-thalassemia and SCD. When given to 22 patients — 15 with transfusion-dependent beta-thalassemia and seven with SCD — all demonstrated sustained increases in fetal hemoglobin and total hemoglobin. All patients had limited and manageable side effects related to the transplant procedure.

"What we're seeing in these early days is how transformational this is for the sickle cell patients we've seen," Dr. Grupp said in a press release. "We are hearing that it is life-changing… As we continue, the big question is whether it is lasting. The evidence so far indicates that it is durable in the time frame we've seen, and we just have to continue to follow the patients."

Read more in the press release.

Pediatric Brain Tumor Survivors Show Lower Levels of Face Processing Accuracy

A collaborative study between researchers in our Cancer Center and the Center for Autism Research published new findings on social impairments in pediatric brain tumor survivors (PBTS). The research, published in the Journal of Pediatric Psychology, focused on the association between facial expression and identity recognition — two key components of social information processing — and social impairments.

The researchers studied 54 brain tumor survivors, 55 youth with ASD, and 43 typically developing youth. They found that the association of facial expression recognition and social impairments was moderated by group, wherein pediatric brain tumor survivors with higher levels of social impairment performed worse on the facial expression task compared to TD and ASD groups.

"Variability in face processing may be uniquely important to the social challenges of PBTS compared to other neurodevelopmental populations," the authors conclude in the article. "Future directions include prospectively examining associations between facial expression recognition and social difficulties in PBTS and face processing training as an intervention for PBTS."


Catch up on our headlines from our August 6 In the News:

  • Can SARS-CoV-2 Be Diagnosed From the Breath of Children?
  • Garrett Brodeur Receives Distinguished Career Award
  • CHOP Leader Discusses Clinical Trial of COVID Vaccine for Children Under 12 Years of Age
  • Follow-up Study RevealsLong-term Complications in Youth-Onset Type 2 Diabetes
  • Tree-rich Greenspace Plays Protective Role on Mental Health During COVID-19 Pandemic

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