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Neuroblastoma Gene Variants, Center for GI Motility Expansion, Improving Autism Diagnosis, Fontan Procedure Follow-Ups

Published on October 6, 2017 in Cornerstone Blog · Last updated 4 months ago


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This week, new research findings at Children’s Hospital of Philadelphia are propelling the way we think about autism, single ventricle survivors, and neuroblastoma forward, as our investigators continued to push the boundaries of what we know. At the Center for Autism Research (CAR), researchers shared why novel observations about the linguistic differences between girls and boys with autism matter when making a diagnosis. Meanwhile, a pediatric oncologist and an expert in genomics teamed up to strengthen our understanding of the genetic construction behind neuroblastoma, a complex cancer. The headlines continue as PolicyLab researchers conducted important investigations into maltreatment in military families, and cardiologists took a hard look at the long-term outcomes for Fontan procedure survivors. With every new discovery that could lead to a new way of caring for children, we are reminded that pediatric science is as fluid and ever-changing as our October weather!

CHOP Researchers Identify Gene Variants Linked to Neuroblastoma Risk

In new research published in Nature Communications, a team of CHOP researchers in the Roberts Collaborative for Genetics and Individualized Medicine have identified common gene variants that raise the risk of developing an aggressive form of neuroblastoma – the most common cancer in infants. A cancer of the peripheral nervous system, neuroblastoma often appears as a solid tumor in a child’s chest or abdomen. It accounts for a disproportionate number of childhood cancer deaths. Led by John Maris, MD, pediatric oncologist, and Hakon Hakonarson, MD, director of the Center for Applied Genomics, the researchers looked at 113 tumors from neuroblastoma patients and found common differences in the MMP20 gene that were also associated with deletions on chromosome 11q – a known risk factor for an aggressive form of neuroblastoma. Along with six other genetic risk variants for neuroblastoma identified by CHOP researchers in the last decade, the new discovery may help clinicians better understand the genetic makeup of the cancer, as well as better diagnose its subtypes.

“We already knew that 11q deletions are biomarkers that predict poor outcomes in neuroblastoma,” said Dr. Maris in a statement. “This new research helps us to more precisely predict how a neuroblastoma tumor will behave, so it improves our diagnostic capabilities.”

Learn more in the press release.

$5 Million Gift Will Expand Lustgarten Center for GI Motility

The Suzi and Scott Lustgarten Center for GI Motility at CHOP is the nation’s most comprehensive clinical and research program in gastrointestinal (GI) motility disorders, addressing a wide range of conditions in which a patient’s esophagus, stomach, or intestines do not function normally. The Center for GI motility harnesses the expertise of a multidisciplinary team to provide every individual with tailored evaluation and care. With a new $5 million gift from Irma and Norman Braman – prominent philanthropists who first established the Center in 2011 – the Center for GI Motility will benefit from a host of new features, including an expanded clinical team, a new research scientist, a transition of care program, and fellowship endowment. The transition of care program will be a formal program that eases young adults in the pediatric program at CHOP to an adult program, while the fellowship endowment will address the lack of trained mentors and mentees interested in studying motility as a career. All four new features will allow the Center to improve the care of current and future motility patients. The expansion gift was inspired by Sarah, the granddaughter of Irma and Norman Braman, and daughter of Suzi and Scott Lustgarten, who is treated at CHOP for severe gastroparesis, a condition that prevents food from moving out of her stomach.

“The Braman family has long helped us pioneer innovative pediatric training, patient care and research for motility disorders,” said Madeline Bell, president and CEO of CHOP in a press release. “We are deeply grateful for their continued partnership to advance and improve pediatric health, and, with their support, look forward to discovering even more breakthroughs for children.”

Learn more in the press release.

Dr. Levy Supports Universal ASD Screening in Contemporary Pediatrics Post

In their coverage of the 2017 American Academy of Pediatrics (AAP) Conference, Contemporary Pediatrics published a post that features a presentation given by Susan Levy, MD, director of the Autism Integrated Care Program at CHOP. Contemporary Pediatrics is one branch of the ModernMedicine network, a news hub that delivers content, learning programs, and tools to health industry professionals across the nation. The article references Dr. Levy’s lecture, “Screening for autism in young children and next steps when you find it,” presented Sept. 18 at the AAP National Conference (covered in our previous edition of In The News).

In her lecture, Dr. Levy referenced current data that supports the need for universal autism spectrum disorder (ASD) screening and discussed ways in which clinicians can implement formal screenings into their practice. With no current biological marker to screen for ASD, Dr. Levy says it’s important to observe and identify key behavioral features of ASD. By using formal screening tools, pediatricians can identify children at risk for ASD, or diagnose children with ASD, earlier in life. This gives them a chance to benefit from early intervention services and gain a higher quality of life. Dr. Levy has conducted robust research into the subject, including a recent study that found in 2016, 81 percent of pediatricians reported “always or almost always” using a formal screening tool to assess for ASD.

You can read the article in Contemporary Pediatrics online.

CHOP Researchers Describe Linguistic Challenges in ASD Diagnoses

While formal screening for ASD can help lead to early intervention, diagnosing ASD in boys and girls is still a challenge. In a new “On Health” blog published for BioMed Central, two CHOP researchers described the implications of a study that they recently published this month in the journal Molecular Autism. Julia Parish-Morris, PhD, a scientist at CAR, and Robert Schultz, PhD, director of CAR, are the authors of the blog post and the first and senior authors of the paper, respectively. As published in their paper, Drs. Parish-Morris and Schultz found that in girls, the words “um” and “uh” can often be “linguistic camouflage” for ASD – making it difficult for clinicians to recognize and identify an ASD diagnosis. The researchers noted that girls with ASD filled pauses with “um’s” just as much as girls without ASD – a pattern that differs from what is seen in boys with ASD. In their blog post, Drs. Parish-Morris and Schultz explain that while more research must be conducted, the findings highlight the need to tackle and be aware of factors like gender that might influence how ASD presents.

“The results of behavioral research can be misleading when findings from male-heavy samples are generalized to all people,” the authors wrote in the blog post. “Although it is harder to test factors like sex or education level than it is to ignore them, our research adds to mounting evidence that these factors may be critical to understanding ASD. In this case, prior findings about “um” and “uh” were true for boys with ASD only, not girls.”

Read the full blog post on BioMed Central’s blog, “On Health”.

Study Finds Re-Interventions Common in Fontan Procedure Survivors

New research from pediatric cardiology researchers at CHOP sheds light on the long-term outcomes for survivors of the Fontan Procedure – a surgical heart operation for children with the severe birth defect, single ventricle disease. The Fontan operation offers high survival rates for a condition that was once considered fatal for infants. In the study published in the journal Circulation: Cardiovascular Interventions, the researchers found that two-thirds (or 65 percent) of patients who survived the Fontan operation required another operation or catheter-based procedure within 20 years of the surgery. The most common operations included placing or revising a pacemaker. While clinicians were already aware that long-term Fontan survivors may likely need re-interventions, the study is one of the first to offer detailed knowledge about the rates of those follow-up procedures.

“The important message from this work is that, for many patients, the Fontan operation is not the ‘final’ procedure, as it is sometimes referred to,” said Andrew Glatz, MD, a board-certified interventional cardiologist in the Cardiac Center at CHOP and the study leader. “Instead, many patients require further interventions after the Fontan to continue to try to optimize the circulation as best as possible. It’s important for families and doctors to understand this, so expectations are clear. This also highlights the need for close and careful ongoing follow-up after the Fontan operation by pediatric cardiologists familiar with potential complications that could befall a Fontan patient.”

Learn more about the study in the press release.

CHOP Researchers Conduct Largest-Ever Study of Child Maltreatment in the U.S. Military

PolicyLab researchers at CHOP continue to conduct life-changing research into the unique needs that military families may have when it comes to preventing maltreatment of children. Through a partnership with the U.S. Army to conduct a longitudinal study of abuse and neglect, the hope is to help the Department of Defense target support systems so that military families can get help when they need it the most.

Now, the latest findings from that longitudinal study, published in the journal Military Medicine, hone in on the specific time during a military parent’s deployment cycle when young children are at the greatest risk for abuse and neglect. According to the new paper, that critical time is after deployment when a father is the solder, but prior to deployment when a mother is the soldier – a discovery that contributes to growing research on the unique needs women may have in the army. Doug Strane, MPH, a clinical research associate at PolicyLab, led the study. The research highlights the need for the military to know how many children in military families actually experience maltreatment. In previous PolicyLab research, researchers found that a lack of communication between healthcare providers, Child Protective Services, and the Family Advocacy Program (the military’s welfare agency) may prevent the Army from learning about the large proportion of child maltreatment cases.

Learn more about this research in a PolicyLab brief.


Recently on Cornerstone, we covered new research into the necessity of organizational skills for success in elementary school, learned what the recipients of Hyundai Hope on Wheels grants are doing with their research funding, and took a quick snapshot at new research into the role of DNA transcription errors in aging and disease.

Catch up on our headlines from our Sept. 22 edition of In the News:

  • CHOP Experts Attend AAP Annual Meeting and Accept Awards
  • CHOP Sickle Cell Research Receives PCORI Funding
  • Philly Eagles Announce Eagles Autism Challenge
  • CHOP Study Shares New Insights into Autism and Anxiety
  • CHOP Researchers Identify Potential Target for Neuroblastoma Treatment

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