In This Section

Driving and Autism, WAGR Syndrome, Cleft Palate and Lip, Candidiasis, Science Communication

Published on January 7, 2022 in Cornerstone Blog · Last updated 4 months 1 week ago


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In the News

shafere1 [at] (By Emily Shafer)

Happy New Year! Start off 2022 with a round-up of research news from Children's Hospital of Philadelphia. Find out if doctors think they can assess autistic patients for driving, and then read about a comprehensive description of WAGR Syndrome. Continue on to see how socioeconomic status may increase risk for cleft palate and cleft lip, and discover what researchers suggest as treatment for an invasive fungal infection in children. Lastly, finish up by finding out the winners of the CHOP/Penn Three Minute Thesis Competition.

Pediatric Providers Often Do Not Discuss Transportation With Autistic Patients

Researchers from the Center for Injury Research and Prevention (CIRP) and the Center for Autism Research (CAR) found that only 8 percent of pediatric healthcare and behavioral service providers feel they are prepared to assess if their patients with autism can drive. The findings appeared in the Journal of Autism and Developmental Disorders.

The study included surveys from 78 providers that care for autistic and non-autistic patients. Although half of the respondents reported having general transportation-related discussions with non-autistic patients, only about 20 percent had these conversations with autistic patients. Furthermore, only about 8 percent believed they could assess whether their autistic patients were ready to drive.

"It was also surprising to learn that only 1 in 4 providers refer their patients, autistic or not, to other providers for driving-related issues," said lead author Emma Sartin, PhD, MPH, a postdoctoral fellow at CIRP. "Our next steps will be to start developing resources and tools so that families, and the professionals who support them, are not left largely on their own to make or guide important decisions about driving."

Learn more about the study in the CHOP press release.

CHOP Researchers Publish Comprehensive Clinical Description of WAGR Syndrome

A new report from CHOP researchers offers the most comprehensive description to date of a rare genetic disorder known as WAGR syndrome. Typically, WAGR syndrome is characterized by four clinical issues: Wilms tumor, Aniridia, Genitourinary anomalies, and Range of developmental delays. The study, which confirmed the known symptoms, also identified kidney issues and cardiometabolic health issues related to WAGR syndrome.

The researchers used the International WAGR Syndrome Association's WAGR Syndrome Patient Registry to analyze clinical data to learn more about the disorder. This is the first comprehensive look at WAGR syndrome since 2005, and it used clinical data from 91 patients included in the registry. The data also highlighted how WAGR syndrome is a spectrum disorder, and that patients require individualized care. The study appeared in Frontiers in Pediatrics.

"By providing this more comprehensive picture of WAGR syndrome, we're hopeful that these patients can receive the correct diagnosis as early as possible and establish a medical home so that parents and their physicians can advocate for them," said study author Jennifer M. Kalish, MD, PhD, a pediatric geneticist at CHOP. "Each child must have their own individualized care plan, and we hope that these recent findings help physicians develop those plans."

Find out more in the CHOP press release.

Poverty Affects Risk of Cleft Lip and Cleft Palate

Lower socioeconomic status indicators, such as lower maternal educational attainment and lack of prenatal care, are linked to an increased risk of cleft lip with or without cleft palate, researchers at CHOP found. The study also found that risk factors for cleft lip with or without cleft palate do not overlap with those for cleft palate only, which supports the hypothesis that cleft lip is associated with environmental factors, but cleft palate is associated with genetic factors. The findings appeared in the journal Plastic and Reconstructive Surgery.

The researchers analyzed data from 6.25 million births from 2016 and 2017. Among the births, 2,984 had cleft lip with or without cleft palate, and 1,180 had cleft palate only. When analyzing socioeconomic factors, the researchers found that lower maternal education were linked to increased incidence of cleft lip with or without cleft palate, and that receiving WIC assistance increased the risk for cleft palate only.

"Future studies are needed to elucidate the mechanisms underlying the relationship between socioeconomic status and risks of cleft lip with or without cleft palate and cleft palate only, in order to improve and implement public health policies aimed at reducing the burden of clefts and its disproportionate impact on the socioeconomically disadvantaged populations," said senior author Jordan W. Swanson, MD, MSc, attending surgeon in the Division of Plastic and Reconstructive and Oral Surgery.

To learn more about the study, visit the CHOP press release.

Study Supports Echinocandin Therapy for Pediatric Invasive Candidiasis

Researchers from CHOP, in collaboration with other institutions in the International Pediatric Fungal Network (IPFN), found that echinocandin therapy for invasive candidiasis in children and adolescents was associated with a reduced failure rate at 14 days, supporting the use of echinocandins as initial directed therapy in these patients. The study appeared in the Journal of the Pediatric Infectious Disease Society.

Invasive candidiasis is an opportunistic infection in patients with complex medical conditions or underlying compromised states. In adults, echinocandins are the recommended initial therapy. However, recommendations are limited to adult patients due to the lack of data specific to children. In lieu of a randomized clinical trial, researchers including Brian T. Fisher, DO, MSCE, attending physician in the Division of Infectious Diseases at CHOP, conducted a prospective observational cohort study called the Pediatric Antifungal Comparative Effectiveness (PEACE) study at 43 institutions in the (IPFN). They compared receipt of echinocandin therapy with receipt of triazole or amphotericin B therapy. Among 541 participants, initial therapy with an echinocandin was associated with reduced failure rate at 14 days, but not 30 days.

"Invasive candidiasis occurs in a wide range of medically complex patients in the hospital, most often as a bloodstream infection," Dr. Fisher said. "The epidemiology of candidiasis differs between kids and adults, to assess the comparative effectiveness of the available antifungal agents in a pediatric cohort. The data suggest there is benefit to starting therapy with an echinocandin, but that transition to other agents after clinical improvement is reasonable..

ATOP Highlights Science Communication, Competition Winners

The Office of Academic Training and Outreach Programs at CHOP recently hosted "Science Communication Done Right," where faculty members led a discussion of the best practices in scientific communication, including how to effectively share research with a wide array of audiences.

Elizabeth Bhoj, MD, PhD, attending physician in the Division of Human Genetics at CHOP, moderated the event. Other faculty participants included Xilma Ortiz-Gonzales, MD, PhD, attending physician in the Division of Neurology at CHOP, and Golnaz Vahedi, PhD, associate professor of Genetics at the Perelman School of Medicine at the University of Pennsylvania.

The program also featured presentations from the winners of the CHOP/PENN Three Minute Thesis (3MT) competition, in which postdoctoral researchers describe their research in three minutes. Ettya Fremont, PhD, a postdoctoral researcher in CHOP's Division of Adolescent Medicine, was a runner-up of the competition for her presentation, titled "Parent & Adolescent Perspectives on Remote Monitoring for Continuous Glucose Monitoring." The first-place winner was Beth Harvey, PhD, a postdoc in the Department of Cell and Developmental Biology at Penn. The other runner-up was Vrathasha Vrathasha, PhD, a postdoc in the Department of Ophthalmology at Penn.


Catch up on our headlines from our December 20, 2021 In the News:

  • Sequencing Bone Marrow DNA After CAR T-cell Therapy Accurately Predicts Leukemia Relapse
  • Can Greening Interventions Reduce Child Maltreatment?
  • Researchers Explore Predictors of Tumor Risk in Children Across Beckwith-Wiedemann Spectrum
  • Multidrug-resistant Gram-negative Infections in Neonates

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