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ASD Quality of Life, Infant Microbiome, IBD Genetics, Pulse Oximetry

Published on April 24, 2020 in Cornerstone Blog · Last updated 5 months 3 weeks ago


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By Jillian Rose Lim

Children’s Hospital of Philadelphia researchers continue to work on the cutting-edge of pediatric science. In this week’s roundup of research news: Microbiome Center experts study the story behind how the gut microbiome develops in early life using an array of sequencing tools. At our Center for Autism Research, researchers collaborate with Drexel University to develop a new survey to assess quality of life. And within our Center for Applied Genomics, scientists probe the genetic mechanism behind inflammatory bowel disorder that may lead to potential therapeutic targets.

CAR Collaboration Helps Define Quality of Life for Individuals with ASD

Just in time for World Autism Month, a collaborative team involving scientists in our Center for Autism Research (CAR) at CHOP have developed a new survey for individuals on the autism spectrum that concerns a simple but significant question: What defines quality of life? Scientists often look at concrete factors such as employment, high school degrees, or independent living, when it comes to assessing quality of life. But Judith Miller, PhD, senior scientist at CAR, explained in a recent Spectrum piece that an individual may fulfill many or all those factors and still be unhappy or dissatisfied with their life.

Using existing National Institutes of Health PROMIS (Parent-Reported Outcomes Measurement Information System) questionnaires as a starting point, Dr. Miller and colleagues at Drexel University created and tested the PROMIS Autism Battery-Lifespan (PAB-L) survey. The PAB-L survey was developed with input from a panel of autism experts as well as 403 parents and autistic adults and teenagers. Listing 14 items for young people and 18 for adults, it takes into account more subjective measures for quality of life, such as life satisfaction, emotional and physical health, relationships, and cognitive function. In adults, it probes self-efficacy, companionship, and social support.

In a paper published in Autism Research, the research team reports that individuals with autism and their family members rated PAB-L as useful and important, and that the PAB-L appears to be a feasible method for assessing patient-reported outcomes and quality of life for autistic individuals across their lifespan.

Read more about the new survey and how it may be used in future research in this Spectrum article.

Researchers Characterize Early Life Gut Microbiome Development

The diverse community of bacteria in our gut microbiome plays an important role in human health, as researchers continually explore its role in a number of conditions from obesity to inflammatory bowel disease (IBD). Nevertheless, scientists still don’t fully understand how these bacteria species emerge in infancy and their functions. In a new paper published in Nature Microbiology, CHOP researchers revealed exciting new information about how the gut microbiome colonizes in the first hours of infancy.

Using stool samples collected from infants in their first days of life, researchers honed in on three species of bacteria that have been observed in the highest number of infants. They studied the genomes of the bacteria and characterized the proteins and metabolites present in the microbiome in its initial stages of development. The team discovered that the early gut microbiome environment is anaerobic (existing prior to the consumption of oxygen) and that multiple strains of each of the three bacterial species were already emerging.

“With the information we have, as we continue to follow these infants, we can track them and see how long these early strains of bacteria linger,” said Kyle Buttinger, PhD, analytics core director of the Microbiome Center and first author of the study. “We can then see the consequences of this initial chemical activity in later samples and hopefully pinpoint early changes that might impact health later in childhood.”

In particular, the team will look at how the gut microbiome might influence excess weight gain by following infants in this study through their first two years of life.

Learn more about the findings in the press release.

Researchers Reveal Key Genetic Mechanism Behind IBD

In new findings published in the Journal of Crohn’s and Colitis, CHOP researchers pinpointed a genetic mutation responsible for driving the development of IBD. The mutation shares a link with a certain genetic pathway, the JAK2 pathway, involved in other immune disorders and serves as an important target for multiple immunotherapies.

The team from the Center for Applied Genomics (CAG) used a number of assays and sequencing methods to characterize the single nucleotide polymorphism (SNP) rs1887428, located on the promoter region of the JAK2 gene. The JAK2 gene codes for a protein responsible for controlling blood cell production and, as mutations of JAK2 are linked with blood cancers, multiple drugs target the JAK2 pathway to treat autoimmune disorders and malignancies. The researchers identified transcription factors (which regulate gene expression) associated with this rs1887428 SNP, and in particular, two transcription factors that can recognize the DNA sequence altered by the SNP.

“Using this method, we believe we have added an important tool to our arsenal of SNP-to-gene assignment methods, allowing us to pinpoint disease-driving genetic mutations that have previously been difficult to properly assign risk,” said Hakon Hakonarson, MD, PhD, director of CAG and senior author of the paper. “This study in particular also provides evidence that drugs targeting JAK2 may provide some benefit for those patients suffering from IBD who carry mutations that upregulate the JAK2 pathway, though such precision-based approaches would need to be validated in clinical studies.”

Learn more in the press release.

New Study Suggests Pulse Oximetry Monitoring Overused in Infants With Bronchiolitis

A new JAMA study from CHOP researchers has found that pulse oximetry, a tool that measures how well the heart pumps oxygen throughout the body by measuring oxygen levels in the blood, is being overused in infant patients with bronchiolitis, contrary to current recommendations. Guidelines from the American Academy of Pediatrics and the Society of Hospital Medicine Choosing Wisely initiative discourage the practice of pulse oximetry monitoring in infants with bronchiolitis unless those infants are on supplemental oxygen. Though it may sound counterintuitive, continuous monitoring is not always advantageous, according to Christopher Bonafide, MD, attending physician and first author of the study.

“We all have a tendency to believe that continuous monitoring is something that is always going to provide benefit and safety, and unfortunately that isn’t the case,” Dr. Bonafide said. “When you monitor patients unnecessarily, it creates risk not only for that patient, in terms of longer hospital stays and increased costs, but also for the entire unit due to the potential for alarm fatigue. Our prior work shows that when alarms go off for both patients who need immediate, life-saving care and those who do not, it diminishes trust in the accuracy of the alarms for signaling true emergencies.”

In the observational study, which gathered data from 56 U.S. and Canadian hospitals in the Pediatric Research in Inpatient Settings Network (PRIS) throughout one bronchiolitis season, Dr. Bonafide and his team found the percentage of patients being unnecessarily monitored ranged from 6 percent to 82 percent.

Read more in the press release.


Join us as we #CheerOnCHOP! Don’t miss this staff appreciation video, which recognizes our employees at Children's Hospital of Philadelphia and all the hospital workers showing incredible resiliency and bravery through the pandemic.

Catch up on our headlines from our April 10 In the News:

  • Variants in RNA Editing Associated with Epilepsy
  • Researchers Identify Missed Opportunities for HIV Testing in Teens
  • Physician-in-Chief Joseph W. St. Geme Wins Leadership Award
  • CHPS Announces Junior Investigator Preliminary/Feasibility Grant Program Award
  • PolicyLab Publishes Briefs Discussing Universal Health Coverage for Children

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