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Meet the Editors

. He joined the brand in March of 2023 as an editor before being promoted to senior editor in January 2024. Fitch graduated from Youngstown State University in Youngstown, Ohio in 2020 with a degree in telecommunications and journalism. He started his career as a news and sports videographer before becoming an on-air sports anchor at the NBC-affiliated news station in Youngstown. Fitch briefly worked as a national content writer for a Chicago-based national television station before joining the 

team. He can be reached at: jfitch@mjhlifesciences.com.

Articles

The submission to treat PsO is for children aged 6 years and up while the jPsA submission is to treat children aged 5 years and older.

J&J submits applications for guselkumab to treat plaque psoriasis, jPsA in children

If approved, SL1009 has the potential to be the first approved medication for PDCD, and would be available as an oral solution. 

Saol Therapeutics submits NDA for SL1009 to treat Pyruvate Dehydrogenase Complex Deficiency

Get caught up with Contemporary Pediatrics! This list helps you navigate our top stories from the week, all in one place.

Weekly review: Vaccine coverage, exemptions, and mRNA reactions

Practicing gratitude boosts wellbeing, improves sleep, and reduces stress. Parents can foster it daily by modeling gratitude, helping others, and reflecting on positives.

Cultivating gratitude boosts family wellbeing, experts say

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A 9-year-old boy was seen for follow-up of a neck mass noted several years earlier. He first presented with this finding at 3 years of age, when during an otherwise unremarkable examination, he became upset, and a protuberant swelling was noted in the anterior aspect of the right side of his neck. What's the diagnosis?

A 9-year-old boy  presents with neck mass

**Editor's Note** Please note that starting January 1, 2025, we will be switching to an online-exclusive publication process. This will allow us to publish case submissions quicker without having to deal with the variables that come along with print publication. All cases will still be eligible for print publication consideration, but publication in our print magazine is not guaranteed and will be up to the editor's discretion. 

Do you have a puzzling pediatric case that you’d like to share with the readers of 

We are looking for intriguing diagnoses that have stumped the experts—a diagnostic “Puzzler”—to help our physicians enhance their day-to-day practices. If you have such a story to tell, tell us.

Here’s what to do: Before you begin, we suggest that first you review the Puzzler 

https://www.contemporarypediatrics.com/case-studies

. Please note the specific style required for writing Puzzler manuscripts.

Next, prepare a draft of your case, including a summary of the presenting symptoms, a case overview, a 

table of the differential diagnosis (MANDATORY)

, and the special aspects of your case that qualify it as a Puzzler, and send it to us. Please note that the differential diagnosis table should also be discussed in the body text. We’ll review your draft and let you know what you need to add or revise before we send the manuscript to peer review for evaluation.

Puzzlers vary in length, and we suggest a minimum of 1,200 words up to a maximum of 2,000 words, but that is because of the complexity of some cases and whether some patients returned for many assessments before their diagnoses were determined. Also, some authors describe the pathophysiology of the differentials in great detail. Please also note no more than 3 authors are allowed per article.

What's most important is to show us the process that you used to analyze the case, including:

Why you decided to order certain tests and why you did not order others.

Peer consultations or why you elected to contact other specialists.

Lab values including vital signs or blood tests.

Labs and values if your patient was attended to in the emergency department or other hospital departments such as radiology or neurology.

Discussion related to the possible diagnoses.

Final diagnosis, treatment, prognosis, and follow-up.

Remember to indicate numbered citations within the body of the text and include a complete list of corresponding literature/references at the end of the manuscript. (Do not use any citation management programs or unlink them.) 

Limit references to 25. No references (unless it is a seminal study) can be older than 10 years.

We prefer primary research as references, but some cases are so obscure that authors will need to pull from a variety of sources. However, 

. Be advised that peer reviewers are adamant that the disease/disorder you describe was actually diagnosed and not determined by index of suspicion on the basis of ruling out various differentials. We use AMA11 as our publication style, which uses superscript citation numbers and a corresponding numbered reference list. Please create your citations and references in this style.  Check this recent article posted online at 

https://www.contemporarypediatrics.com/view/the-rx-of-adhd

 for examples of reference style. IMPORTANT NOTE WITH AMA 11TH EDITION: PLEASE PUT DOI OR WEBSITES/URLS AT THE END OF THE REFERENCE LINE.

When you send your draft manuscript, also 

. These image files must be high-resolution jpg or tiff files (minimum of 300 dpi) and as large in size as possible. We suggest a minimum of 7 horizontal inches. The images must be original photos with clear permissions to use, not images from copyrighted sources. Send as separate attachments with your e-mail submission; do not embed images into your manuscript document.

After we receive your manuscript, our editors and peer reviewers will review your draft and let you know if we accept your submission for publication. 

Puzzler is one of the departments for which we receive the most submissions, so it may be several months after submission before you receive feedback from us.

If we do accept your submission for publication, we will contact you with further instructions.

Send your submissions in Microsoft Word format to 

, via e-mail to mpetronelli@mjhlifesciences.com

Guidelines for PUZZLER, Contemporary Pediatrics

Paul Kruszka, MD, MPH, FACMG, explains for general providers the difference between screening and diagnosis regarding whole genome sequencing and how it could play a role in the primary care setting. 

Whole genome sequencing: Screening and diagnosis

Paul Kruszka, MD, MPH, FACMG, chief medical officer of GeneDx and clinical geneticist at Children’s National Hospital, discussed the role of genetic testing in pediatric care.

“[If] a general pediatrician is seeing a child with a congenital anomaly, global developmental delay, intellectual disability, epilepsyreally, those are children that need genetic testing,” Kruszka explained. He emphasized that exome and genome sequencing are now recommended as first-tier tests for these conditions, as established by the American College of Medical Genetics in 2021. Additionally, “The American Epilepsy Society has endorsed guidelines for exome or genome for any individual of any age with unexplained epilepsy.” 

Rapid genome sequencing is also becoming a key diagnostic tool in neonatal intensive care units (NICUs). “Critically ill children in an ICU environment should be also getting rapid testing,” Kruszka noted, pointing to a growing body of evidence supporting this approach. He stressed that these tests offer high diagnostic yields, stating, “Professional guidelines support it. And most important, the payers are paying for it.” 

Kruszka acknowledged the challenges of payer coverage but highlighted progress in accessibility. “Most of what we do at my company at GeneDx is public payers, is Medicaid, state Medicaid programs. I think roughly 40% of children in the US have Medicaid insurance,” he explained. Over half of GeneDx’s testing is supported by Medicaid, marking significant advancement in making genetic testing available to more families. 

The impact of genetic diagnoses extends beyond the clinical realm, profoundly affecting families, Kruszka has found. 

“Once you make that diagnosis, that changes everything for the family,” Kruszka said. “[If nothing else], the parents stop feeling guilty." 

Kruszka highlighted the importance of patient advocacy groups in supporting families and disseminating information about rare conditions. “Usually…a patient who has a diagnosis, who’s done their own research, who’s a member of patient advocacy groups, will know more about the disease than most providers or physicians,” he said. 

Ultimately, genetic testing not only ends the “diagnostic odyssey” for families but also equips them with critical resources and community support, enhancing the quality of pediatric care, according to Kruszka.

Paul Kruszka, MD, MPH, FACMG, has the following disclosures

Employment - Chief medical officer at GeneDx

In a separate video interview, Kruszka provided further background of whole genome sequencing in primary care. 

Paul Kruszka, MD, MPH, FACMG, explains for general providers the difference between screening and diagnosis regarding whole genome sequencing and how it could play a role in the primary care setting.

News

In this video interview, Herbert Bravo, MD, explains how to implementing autoimmune diabetes screenings in the primary care setting and the lasting benefits for the child. 

Autoimmune diabetes and preventing diabetic ketoacidosis

Herbert Bravo, MD, a pediatrician, co-founder, and co-host of 

 podcast, emphasized the importance of early screening for autoimmune diabetes to prevent diabetic ketoacidosis (DKA) and its long-term complications.

Bravo highlighted a shift in understanding type 1 diabetes, stating, “We used to think of type 1 diabetes as juvenile onset diabetes. Now, we know that 60% of the cases are diagnosed in adults, and about 40% of type 2 diabetics are misdiagnosed—they’re actually autoimmune diabetics.” He also noted advancements in the classification of autoimmune diabetes stages.

“In 2014, the American Diabetes Association defined autoimmune diabetes, or type 1 diabetes, as having 3 distinct stages. Stage 1, you still are euglycemic, so you would not be able to tell by glucose, hemoglobin A1C, or an oral glucose test. In stage 2, you are dysglycemic, so we can already tell your glucose metabolism is being affected, and in stage 3, you are now insulin dependent for life.” He added that a proposed stage 4 represents the chronic state of the disease where insulin production is entirely absent.

Bravo called for incorporating autoantibody screening into routine pediatric care, explaining, “This process is very simple, because you can attach it to somewhere between 2 years or 4 years of age. You want to screen at least twice. So you could think of it at buckets—the autoantibodies peak at about 18 months. So if you were screening anybody at 18 months or 2 years of age, first, that coincides with routine blood work that is obtained already in the pediatric office.”

Bravo concluded by emphasizing the high stakes of delayed diagnosis.

“If you don’t diagnose early, up to 80% of the kids will end up with DKA presentation, which leads to very, very acute complications, sometimes including death, but decreased IQ, learning disabilities, and a long-term damage of the pancreas.” 

He underscored that early detection is cost-effective, easy to implement, and has the potential to significantly improve outcomes for children at risk.

In this video interview, Herbert Bravo, MD, explains how implementing autoimmune diabetes screenings in the primary care setting can benefit the child several ways. 

Contemporary Pediatrics' editor-in-chief Tina Tan, MD, FAAP, FIDSA, FPIDS, discusses the recent uptick in pediatric vaccine exemptions in this video interview. 

Kindergarten vaccine coverage decreased, exemptions increased in 2023-2024 school year

Tina Tan, MD, FAAP, FIDSA, FPIDS, editor in chief of 

 and professor of pediatrics at Northwestern University’s Feinberg School of Medicine, shared her concerns regarding rising vaccine hesitancy and unwarranted exemptions, emphasizing the importance of immunization in safeguarding public health. 

“The increase in vaccine exemptions, many of them are not valid,” said Tan. “Vaccine hesitancy has definitely increased because vaccines during the COVID era have become politicized. So people believe that the vaccines either aren't effective or they don't trust the new way that vaccines are developed, and that's very unfortunate."

According to an October 2024 edition of the Centers for Disease Control and Prevention's 

, coverage for all reported vaccines declined to less than 93% (range = 92.3% [diphtheria, tetanus, and acellular pertussis vaccine] to 92.7% [measles, mumps, and rubella vaccine]) during the 2023-2024 school year.

During the 2023-2024 school year. the vaccine exemption rate increased to 3.3%, up from 3% the year prior, and increased in 41 jurisdictions. In 14 jurisdictions, rates exceeded 5%.

“It’s really important that everybody get their influenza [vaccine], their COVID booster vaccine, and if they’re eligible, get nirsevimab, the monoclonal antibody [for respiratory syncytial virus( RSV)],” Tan stressed. Additionally, she noted the importance of maternal vaccination before the RSV season as a means to protect newborns.

Reflecting on the broader impact of vaccines, Tan described them as a cornerstone of modern medicine. 

“Vaccines are a public health tool that is one of the greatest public health tools that have ever been developed,” she said. “They have been shown to significantly decrease the transmission of these diseases and protect individuals against getting these diseases.”

Coverage with Selected Vaccines and Exemption Rates Among Children in Kindergarten — United States, 2023–24 School Year. 

. October 17, 2024. Accessed November 17, 2024. https://www.cdc.gov/mmwr/volumes/73/wr/mm7341a3.htm

Contemporary Pediatrics' editor-in-chief Tina Tan, MD, FAAP, FIDSA, FPIDS, discusses the recent uptick in pediatric vaccine exemptions in this video interview.

Paul Kruszka, MD, MPH, FACMG, chief medical officer of GeneDx, joined us to provide background of whole genome sequencing and its benefits. 

Background on whole genome sequencing and review of the GUARDIAN study

Paul Kruszka, MD, MPH, FACMG, chief medical officer at GeneDx and clinical geneticist at Children’s National Hospital, explained the role of genetic testing in improving pediatric care. Speaking on the potential of whole genome sequencing, Kruszka emphasized its value in diagnosing rare diseases earlier and more effectively. 

“One out of 10 people in North America are affected by a rare disease, that’s 30 million people in the [United States],” Kruszka noted, highlighting the prevalence of rare genetic conditions. “There is a lot of genetic rare disease. So certainly, this is in the wheelhouse of a general pediatrician and all the pediatric sub-specialties, whether you’re a neonatologist, a pediatric neurologist, [or] a developmental pediatrician.”

Kruszka detailed the GUARDIAN study (NCT05990179), a multisite, single-group, prospective, observational investigation of supplemental newborn genome screening, in which data has been reported on the first 4000 families that have participated across 11 months. Data were from newborns in 6 New York City hospitals between September 2022 and July 2023.

“We used targeted whole genome sequencing to expand the newborn screening for more rare diseases," said Kruszka, who is also a GUARDIAN study investigator. "Typically, we screen for 30 to 60 conditions. With the GUARDIAN study, we bumped that up to almost 250 conditions. These are diseases that are treatable, actionable.”

The study objective was to report interim results of acceptability, feasibility, and outcomes of an ongoing genomic newborn screening in a diverse population, with the primary endpoint being screen-positive rate.

“Some examples that we found: there were children with long QT syndrome that we found. This is treatable with medications such as beta blockers. This is a cause of sudden cardiac death in children,” Kruszka said. “We found another child who required a bone marrow transplant. We found severe combined immune deficiency in another child before symptoms started that was missed by typical newborn screening.” 

In the study, testing was completed successfully for 99.6% of cases, with a screen-positive rate of 3.7%, which included treatable conditions that are not currently included in newborn screenings, according to study results.

“This is identifying kids that would have taken, on average, 6 years to be diagnosed,” Kruszka said. “The idea behind this study is really to eliminate the diagnostic odyssey, to give diagnoses before symptoms even start, to prevent damage, [and] to allow for better health outcomes.” 

“It’s unacceptable to wait 1–2 years to see a clinical geneticist or have a genetic test. There’s no reason for that," he said while expressing hope that the GUARDIAN study would inspire change. 

“This is a long time coming… It’s more important than ever for all of us in the pediatric community to understand genetics [and] genomics," said Kruszka. “Our newborn screening system is fantastic, but it only really captures a slice of rare disease. With whole genome sequencing, we’re opening up a whole new spectrum of diseases that we’re going to be able to identify early.” 

Employment - Chief medical officer at GeneDx 

Ziegler A, Koval-Burt C, Kay DM, et al. Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions. 

 Published online October 24, 2024. doi:10.1001/jama.2024.19662 

Stephanie Anne Deutsch, MD, MS, MSCR, FAAP, joined us to discuss a new study highlights SUID among infants who were prenatally substance exposed. 

Prenatally substance-exposed infants and SUID outcomes, preventive recommendations

Stephanie Anne Deutsch, MD, MS, MSCR, FAAP, joined us to discuss a new study that highlighted SUID among infants who were prenatally substance exposed. 

Judith Gorra, MD

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