Pediatrics Commons^™

Genetic Testing To Inform Epilepsy Treatment Management From An International Study Of Clinical Practice, Dianalee Mcknight, Ana Morales, Kathryn E. Hatchell, Sara L. Bristow, Joshua L. Bonkowsky, Michael Scott Perry, Anne T. Berg, Felippe Borlot, Edward D. Esplin, Chad Moretz, Katie Angione, Loreto Ríos-Pohl, Robert L. Nussbaum, Swaroop Aradhya, Chad R. Haldeman-Englert, Rebecca J. Levy, Venu G. Parachuri, Guillermo Lay-Son, David J. Dávila-Ortiz De Montellano, Miguel Angel Ramirez-Garcia, Edmar O. Benítez Alonso, Julie Ziobro, Adela Chirita-Emandi, Temis M. Felix, Dianne Kulasa-Luke, Andre Megarbane, Shefali Karkare, Sarah L. Chagnon, Jennifer B. Humberson, Melissa J. Assaf, Sebastian Silva, Katherine Zarroli, Oksana Boyarchuk, Gary R. Nelson, Rachel Palmquist, Katherine C. Hammond, Sean T. Hwang, Susan B. Boutlier, Melinda Nolan, Kaitlin Y. Batley, Devraj Chavda, Carlos Alberto Reyes-Silva, Oleksandr Miroshnikov, Britton Zuccarelli, Louise Amlie-Wolf, James W. Wheless, Syndi Seinfeld, Manoj Kanhangad, Jeremy L. Freeman, Susana Monroy-Santoyo, Natalia Rodriguez-Vazquez, Monique M. Ryan, Michelle Machie, Patricio Guerra, Muhammad Jawad Hassan, Meghan S. Candee, Caleb P. Bupp, Kristen L. Park, Eric Muller, Pamela Lupo, Robert C. Pedersen, Amir M. Arain, Andrea Murphy, Krista Schatz, Weiyi Mu, Paige M. Kalika, Lautaro Plaza, Marissa A. Kellogg, Evelyn G. Lora, Robert P. Carson, Victoria Svystilnyk, Viviana Venegas, Rebecca R. Luke, Huiyuan Jiang, Tetiana Stetsenko, Milagros M. Dueñas-Roque, Joseph Trasmonte, Rebecca J. Burke, Anna C. E. Hurst, Douglas M. Smith, Lauren J. Massingham, Laura Pisani, Carrie E. Costin, Betsy Ostrander, Francis M. Filloux, Amitha L. Ananth, Ismail S. Mohamed, Alla Nechai, Jasmin M. Dao, Michael C. Fahey, Ermal Aliu, Stephen Falchek, Craig A. Press, Lauren Treat, Krista Eschbach, Angela Starks, Ryan Kammeyer, Joshua J. Bear, Mona Jacobson, Veronika Chernuha, Bailey Meibos, Kristen Wong, Matthew T. Sweney, A. Chris Espinoza, Colin B. Van Orman, Arie Weinstock, Ashutosh Kumar, Claudia Soler-Alfonso, Danielle A. Nolan, Muhammad Raza, Miguel David Rojas Carrion, Geetha Chari, Eric D. Marsh, Yael Shiloh-Malawsky, Sumit Parikh, Ernesto Gonzalez-Giraldo, Stephen Fulton, Yoshimi Sogawa, Kaitlyn Burns, Myroslava Malets, Johnny David Montiel Blanco, Christa W. Habela, Carey A. Wilson, Guillermo G. Guzmán, Mariia Pavliuk

Department of Pediatrics Faculty Papers

IMPORTANCE: It is currently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is associated with clinical management and outcomes.

OBJECTIVE: To evaluate how genetic diagnoses in patients with epilepsy are associated with clinical management and outcomes.

DESIGN, SETTING, AND PARTICIPANTS: This was a retrospective cross-sectional study of patients referred for multigene panel testing between March 18, 2016, and August 3, 2020, with outcomes reported between May and November 2020. The study setting included a commercial genetic testing laboratory and multicenter clinical practices. Patients with epilepsy, regardless of sociodemographic features, who received a …

Neurodevelopment Assessment Of Small For Gestational Age Children In A Community-Based Cohort From Pakistan, Sabahat Naz, Zahra Hoodbhoy, Ali Jaffar, Sidra Kaleem Jafri, Babar Hasan, Devyani Chowdhury, Melissa Gladstone

Department of Paediatrics and Child Health

Background: Children born small for gestational age (SGA) may experience more long-term neurodevelopmental issues than those born appropriate for gestational age (AGA). This study aimed to assess differences in the neurodevelopment of children born SGA or AGA within a periurban community in Pakistan.
Methods: This was a prospective cohort study in which study participants were followed from the pilot Doppler cohort study conducted in 2018. This pilot study aimed to develop a pregnancy risk stratification model using machine learning on fetal Dopplers. This project identified 119 newborns who were born SGA (2.4±0.4 kg) based on International Fetal and Newborn Growth …

A Methodological And Clinical Approach To Measured Energy Expenditure In The Critically Ill Pediatric Patient., Jaime Silva-Gburek, Paola Hong Zhu, Marwa Mansour, David Walding, Jorge A. Coss-Bu

Manuscripts, Articles, Book Chapters and Other Papers

The metabolic response to injury and stress is characterized initially by a decreased energy expenditure (Ebb phase) followed by an increased metabolic expenditure (Flow phase). Indirect calorimetry is a methodology utilized to measure energy expenditure and substrate utilization by measuring gas exchange in exhaled air and urinary nitrogen. The use of indirect calorimetry in critically ill patients requires precise equipment to obtain accurate measurements. The most recent guidelines suggested that measured energy expenditure by indirect calorimetry be used to determine energy requirements. This article reviews the methodological and clinical use of indirect calorimetry in critically ill pediatric patients.

Genetic Conditions Of Short Stature: A Review Of Three Classic Examples, Merlin G Butler, Bradley S Miller, Alicia Romano, Judith L. Ross, M Jennifer Abuzzahab, Philippe Backeljauw, Vaneeta Bamba, Amrit Bhangoo, Nelly Mauras, Mitchell Geffner

Department of Pediatrics Faculty Papers

Noonan, Turner, and Prader-Willi syndromes are classical genetic disorders that are marked by short stature. Each disorder has been recognized for several decades and is backed by extensive published literature describing its features, genetic origins, and optimal treatment strategies. These disorders are accompanied by a multitude of comorbidities, including cardiovascular issues, endocrinopathies, and infertility. Diagnostic delays, syndrome-associated comorbidities, and inefficient communication among the members of a patient's health care team can affect a patient's well-being from birth through adulthood. Insufficient information is available to help patients and their multidisciplinary team of providers transition from pediatric to adult health care systems. …

Biological Networks And Complexity In Early-Onset Motor Neuron Diseases, Matthew E. R. Butchbach, Rod C. Scott

Department of Pediatrics Faculty Papers

Motor neuron diseases (MNDs) are neuromuscular disorders where the spinal motor neurons–either the cell bodies themselves or their axons–are the primary cells affected. To date, there are 120 different genes that are lost or mutated in pediatric-onset MNDs. Most of these childhood-onset disorders, aside from spinal muscular atrophy (SMA), lack viable therapeutic options. Previous research on MNDs has focused on understanding the pathobiology of a single, specific gene mutation and targeting therapies to that pathobiology. This reductionist approach has yielded therapeutic options for a specific disorder, in this case SMA. Unfortunately, therapies specific for SMA have not been effective against …

Sex Difference Leads To Differential Gene Expression Patterns And Therapeutic Efficacy In Mucopolysaccharidosis Iva Murine Model Receiving Aav8 Gene Therapy, Matthew Matthew Piechnik, Paige C. Amendum, Kazuki Sawamoto, Molly Stapleton, Shaukat Khan, Nidhi Fnu, Victor Álvarez, Angelica Maria Herreño Pachon, Olivier Danos, Joseph T. Bruder, Subha Karumuthil-Melethil, Shunji Tomatsu

Student Papers & Posters

Adeno-associated virus (AAV) vector-based therapies can effectively correct some disease pathology in murine models with mucopolysaccharidoses. However, immunogenicity can limit therapeutic effect as immune responses target capsid proteins, transduced cells, and gene therapy products, ultimately resulting in loss of enzyme activity. Inherent differences in male versus female immune response can significantly impact AAV gene transfer. We aim to investigate sex differences in the immune response to AAV gene therapies in mice with mucopolysaccharidosis IVA (MPS IVA). MPS IVA mice, treated with different AAV vectors expressing human N-acetylgalactosamine 6-sulfate sulfatase (GALNS), demonstrated a more robust antibody response in female mice resulting …

Poliovirus Immunity Among Children Aged 6-11 And 36-48 Months In 14 Polio High-Risk Provinces Of Afghanistan: A Health-Facility-Based Study, Sajid Bashir Soofi, Maureen Martinez, Noha H. Farag, William S. Hendley, Derek Ehrhardt, Imran Ahmed, Imtiaz Hussain, William Weldon, Ahmed M. Kassem

Department of Paediatrics and Child Health

Afghanistan is one of two countries where wild poliovirus (WPV) type 1 remains endemic. We conducted a facility-based cross-sectional survey of antipoliovirus antibodies in children in 14 provinces of Afghanistan. The provinces were selected based on programmatic priorities for polio eradication. Children aged 6-11 and 36-48 months attending outpatient clinics were enrolled in the study. We collected venous blood, isolated serum, and conducted neutralization assays to detect poliovirus neutralizing antibodies. A total of 2086 children from the 14 provinces were enrolled. Among the enrolled children, 44.3% were girls; the median age in the 6-11-month group was 9.4 months, and in …

The Use Of Virtual Tools In Narrowing The Impact Of Health Disparities In Neurology., Jean-Baptist Lepichon, Stephanie Horton, Omar Abdelmoity, Mark A. Hoffman, Emily Cramer, Nirmeen Kishk, Salah Hamada, Ahmed Abdelmoity

Manuscripts, Articles, Book Chapters and Other Papers

The concept of Epilepsy Treatment Gap (ETG) refers to the proportion of people with epilepsy who are not being appropriately treated. The ETG in the USA approaches 10%, with historically underserved populations and rural populations disproportionately affected. The ETG in Low-and Middle-Income Countries (LMIC) is reported to be 5-10 times higher than in high-income countries. The growing availability of reliable internet access offers a unique opportunity to provide better care to children and adults with epilepsy. In this paper we explore various telehealth (TH) initiatives that have leveraged the availability of easy and free access to an internet connection in …

Multianalyte Association Between Intestinal Alkaline Phosphatase And Pediatric Inflammatory Bowel Disease, Rebekah Fayard, Rebecca Buckley, Micquel Downs, Eileen Lugo-Perez, Anne Tufton, Colleen Leblanc, Dedrick Moulton, Sunyoung Kim

Medical Research Day

Inflammatory bowel disease (IBD) is a generalized inflammatory gastrointestinal (GI) disease that includes Ulcerative Colitis (UC) and Crohn’s disease (CD). Consideration of diagnostic choices outside of endoscopy are urgent, and especially so for the pediatric population. A growing number of diagnosed IBD cases with rates up to 25% of all IBD occurrences are pediatric cases. Current available fecal markers have yet to satisfy desired characteristics. For example, thus far, they can achieve moderate specificity but low sensitivity, but they cannot reliably stratify patients into a quiescent, mild, moderately active, or severe disease states. Intestinal alkaline phosphatase (iAP), an enzyme shed …

Mobile Health Software Platform Implementation To Improve Pediatric Remote Patient Monitoring Outcomes, Lori A. Erickson, Amy Ricketts, Jenny Marshall, Krista Nelson, Peter Churchill, Dawn Wolff, Robert W. Steele

Posters

Background: Children’s High Acuity Monitoring Program (CHAMP®) is a software platform for pediatric remote patient monitoring. It is used with a proactive, personalized, pediatric care model providing a link for communication with a specialized healthcare team to patients and families in their homes. Successful implementation since 2014 includes: adoption at 12 pediatric hospitals and over 870 infants with a survival of 96.5% (down from 20% in 2012). This work led our team to engage leadership to discuss a remote patient monitoring department with new monitoring devices and expanded access to pediatric conditions.

Methods: Strategic Planning and Innovation facilitated navigation of …

Respiratory Virus Surveillance Among Children With Acute Respiratory Illnesses - New Vaccine Surveillance Network, United States, 2016-2021., Ariana Perez, Joana Y. Lively, Aaron Curns, Geoffrey A. Weinberg, Natasha B. Halasa, Mary Allen Staat, Peter G. Szilagyi, Laura S. Stewart, Monica M. Mcneal, Benjamin Clopper, Yingtao Zhou, Brett L. Whitaker, Elizabeth Lemasters, Elizabeth Harker, Janet A. Englund, Eileen J. Klein, Rangaraj Selvarangan, Christopher J. Harrison, Julie A. Boom, Leila C. Sahni, Marian G. Michaels, John V. Williams, Gayle E. Langley, Susan I. Gerber, Angela Campbell, Aron J. Hall, Brian Rha, Meredith Mcmorrow, New Vaccine Surveillance Network Collaborators

Manuscripts, Articles, Book Chapters and Other Papers

The New Vaccine Surveillance Network (NVSN) is a prospective, active, population-based surveillance platform that enrolls children with acute respiratory illnesses (ARIs) at seven pediatric medical centers. ARIs are caused by respiratory viruses including influenza virus, respiratory syncytial virus (RSV), human metapneumovirus (HMPV), human parainfluenza viruses (HPIVs), and most recently SARS-CoV-2 (the virus that causes COVID-19), which result in morbidity among infants and young children (1-6). NVSN estimates the incidence of pathogen-specific pediatric ARIs and collects clinical data (e.g., underlying medical conditions and vaccination status) to assess risk factors for severe disease and calculate influenza and COVID-19 vaccine effectiveness. Current NVSN …

Inverted Appendix Presenting As Abdominal Pain And Lower Gastrointestinal Bleeding, Moises Alatorre-Jimenez, Thomas M. Attard

Posters

Background: Cecal polyps are challenging insofar as the region represents the highest risk of bleeding and perforation during polypectomy . In addition, polypoid lesions in the cecum may represent a morphologically abnormal ileocecal valve or an inverted appendix. Inadvertent polypectomy in those scenarios would lead to serious sequelae including perforation. Case report: Our patient is a 6-year-old male with a background history of prematurity, lactose intolerance, chronic esophagitis, gastritis, constipation, and painless rectal bleeding. He presented with a acute onset diffuse, severe abdominal pain associated with diarrhea that evolved to include hematochezia. At the time of presentation, he required aggressive …

Association Between Fetal Abdominal Growth Trajectories, Maternal Metabolite Signatures Early In Pregnancy, And Childhood Growth And Adiposity: Prospective Observational Multinational Interbio-21st Fetal Study, Jose Villar, Roseline Ochieng, Robert B. Gunier, Aris T. Papageorghiou, Stephen Rauch, Rose Mcgready, Julia M. Gauglitz, Fernando C. Barros, Manu Vatish, Michelle Fernandes

Paediatrics and Child Health, East Africa

Background: Obesity predominantly affects populations in high-income countries and those countries facing epidemiological transition. The risk of childhood obesity is increased among infants who had overweight or obesity at birth, but in low-resource settings one in five infants are born small for gestational age. We aimed to study the relationships between: (1) maternal metabolite signatures; (2) fetal abdominal growth; and (3) postnatal growth, adiposity, and neurodevelopment.

Methods: In the prospective, multinational, observational INTERBIO-21st fetal study, conducted in maternity units in Pelotas (Brazil), Nairobi (Kenya), Karachi (Pakistan), Soweto (South Africa), Mae Sot (Thailand), and Oxford (UK), we enrolled women …

Association Between Fetal Abdominal Growth Trajectories, Maternal Metabolite Signatures Early In Pregnancy, And Childhood Growth And Adiposity: Prospective Observational Multinational Interbio-21st Fetal Study, Jose Villar, Roseline Ochieng, Robert B. Gunier, Aris T. Papageorghiou, Stephen Rauch, Rose Mcgready, Julia M. Gauglitz, Fernando C. Barros, Manu Vatish, Shama Munim

Department of Obstetrics & Gynaecology

Background: Obesity predominantly affects populations in high-income countries and those countries facing epidemiological transition. The risk of childhood obesity is increased among infants who had overweight or obesity at birth, but in low-resource settings one in five infants are born small for gestational age. We aimed to study the relationships between: (1) maternal metabolite signatures; (2) fetal abdominal growth; and (3) postnatal growth, adiposity, and neurodevelopment.
Methods: In the prospective, multinational, observational INTERBIO-21st fetal study, conducted in maternity units in Pelotas (Brazil), Nairobi (Kenya), Karachi (Pakistan), Soweto (South Africa), Mae Sot (Thailand), and Oxford (UK), we enrolled women (≥18 years, …

Management Of Primary Spontaneous Pneumothorax: A Single Institution Protocol Analysis, Shai Stewart Md, James A. Fraser, Rebecca M. Rentea, Pablo Aguayo, David Juang, Jason D. Fraser, Charles L. Snyder, Richard J. Hendrickson, Tolulope A. Oyetunji, Shawn D. St.Peter

Posters

Management of Primary Spontaneous Pneumothorax in Children: A Single Institution Protocol Analysis

Background: The Midwest Pediatric Surgery Consortium (MWPSC) has suggested a management algorithm to include simple aspiration of primary spontaneous pneumothorax (PSP), failing which, Video-Assisted Thoracoscopic Surgery (VATS) should be considered. We describe our outcomes in patients who have been managed with this suggested protocol.

Methods: An Institutional Review Board (IRB) approved, single institution retrospective analysis was conducted on all patients between 12 and 18 years who were diagnosed with PSP from 2016 to 2022. Initial management consisted of aspiration alone with a 12F Thal-Quick chest tube followed by …

Intraductal Papillary Mucinous Neoplasm In An 18-Year-Old With Recurrent Pancreatitis, Nadia Ibrahimi, Thomas M. Attard, Moises Alatorre-Jimenez, Karie Robinson, Syed Jafri

Posters

Introduction: Intraductal Papillary Mucinous Neoplasms (IPMNs) of the pancreas are premalignant, intraductal, mucin secreting cystic lesions. IPMNs are a rare entity in the pediatric population and commonly seen in men in their 6 to 7 decade. Pediatric IPMN has been previously reported in a 14-year-old and a neonate, who also had hyperinsulinism and a de novo germline SKIL gene mutation. . Kim et al. did a ten-year single centered pediatric pancreatic malignancy study discovering IPMN in one patient of 35 with pancreatic mass removals . Case: Our patient is an 18-year-old male who initially presented at the age of 15 …

Alterations In The Metabolic Comorbidities Of Youth With Overweight And Obesity During The Covid-19 Pandemic, Safa Farrukh, Erica Wee, Ashley Sherman, Yun Yan

Posters

Background: Childhood obesity rates have continued to increase with the COVID-19 pandemic. However, data are limited on the impact of increasing obesity on associated comorbidities. Methods: We evaluated the progression of overweight- or obesity-associated comorbidities by investigating change in laboratory results pre–COVID-19 pandemic and post–COVID-19 pandemic onset in youth with overweight or obesity. Results: There was no significant BMI progression. There was progression of metabolic comorbidities. HbA1c progression and LDL progression were significantly correlated. HbA1c and LDL progression were significantly associated with older age and Hispanics respectively. Conclusion: The results indicate that despite no significant increase in BMI, youths with …

Two Siblings With Microvillous Inclusion Disease, Moises Alatorre-Jimenez, Brandi Weller, Meike Orlick, William San Pablo

Posters

Introduction: Microvillous Inclusion Disease (MVID) (OMIM#251850) is a rare autosomal recessive condition caused by mutations or deletions mostly in the MYH6 gene but also STX3 and STXBP2 genes. It is characterized by protracted diarrhea with severe congenital alteration of the intestinal epithelium resulting in watery diarrhea, metabolic acidosis, failure to thrive, and permanent malabsorption that normally leads to a lifelong dependency on total parenteral nutrition (TPN) and the eventual possibility of bowel transplantation . Histological hallmarks of MVID in small intestinal biopsies are hypoplastic, atrophic, or disorganized villi without crypt hypertrophy, or immune cell infiltrate and, at the intestinal cellular …

Endoscopic Removal Of Safety Pin From Appendiceal Orifice, Alex Biller, Moises Alatorre-Jimenez, Jeremy Stewart, Ruba A. Abdelhadi

Posters

Introduction: Foreign body ingestion in children is considered a common concern in every Emergency Department worldwide. In the United States, it is estimated that foreign body ingestions cause approximately 1,500 deaths yearly (1). Safety pins ingestions are estimated to be 1% of the foreign body ingestions in children (2). In literature, ingested safety pins have been reported to be lodged mostly in the upper gastrointestinal tract, but a few cases have been reported to be lodged in the appendix (2,3,4). Objective: Recommendations for safety pin ingestions when past the second portion of the duodenum. Case: We report the case of …

Endoscopic Retrograde Cholangiography Using A Colonoscope In A Pediatric Liver Transplant Patient With Roux-En-Y Biliary Anastomosis, Nadia Ibrahimi, Thomas M. Attard, Ryan T. Fischer, Voytek Slowik, Richard J. Hendrickson, Bhargava Mullapudi, Moises Alatorre-Jimenez, Syed Jafri

Posters

Introduction: Biliary ducal sequelae including occlusions, strictures, leaks, or necrosis frequently complicate pediatric liver transplantation. The underlying etiology includes prolonged intraoperative ischemia or postoperative arterial inflow obstruction. In adult patients the role of endoscopic retrograde cholangiography (ERC) is well established in the management of biliary complications post-liver transplantation. In contrast, in the pediatric population, due to the combination of small patient size and the complexity of Roux-en-Y anastomotic techniques, ERC has been described as difficult or virtually impossible. This limits the options available for managing biliary duct complications to percutaneous techniques Endoscopic management of biliary complications in pediatric patients with …