Pediatrics Commons^™

Gene-Based Therapeutics For Rare Genetic Neurodevelopmental Psychiatric Disorders, Beverly L Davidson, Guangping Gao, Elizabeth Berry-Kravis, Allison M Bradbury, Carsten Bönnemann, Joseph D Buxbaum, Gavin R Corcoran, Steven J Gray, Heather Gray-Edwards, Robin J Kleiman, Adam J Shaywitz, Dan Wang, Huda Y Zoghbi, Terence R Flotte, Sitra Tauscher-Wisniewski, Cynthia J Tifft, Mustafa Sahin

Duncan NRI Faculty and Staff Publications

We are in an emerging era of gene-based therapeutics with significant promise for rare genetic disorders. The potential is particularly significant for genetic central nervous system disorders that have begun to achieve Food and Drug Administration approval for select patient populations. This review summarizes the discussions and presentations of the National Institute of Mental Health-sponsored workshop "Gene-Based Therapeutics for Rare Genetic Neurodevelopmental Psychiatric Disorders," which was held in January 2021. Here, we distill the points raised regarding various precision medicine approaches related to neurodevelopmental and psychiatric disorders that may be amenable to gene-based therapies.

Utility Of Av Nodal Characteristics In Identification Of Atrioventricular Nodal Reentrant Tachycardia And Risk Of Recurrence, Kimberly M. Decarr

Longitudinal Scholar's Project

Background: Catheter ablation of the slow atrioventricular (AV) nodal pathway is a safe and effective treatment for atrioventricular nodal reentrant tachycardia (AVNRT). While AVNRT occurs frequently in both children and adults, pediatric patients experience higher rates of AVNRT recurrence.

Objective: The purpose of this study was to characterize changes in AV nodal conduction properties following catheter ablation and correlate these properties with AVNRT recurrence in pediatric patients.

Methods: This was a retrospective review of patients aged(AVRT) at a single tertiary care center between January 01, 2010 and September 01, 2021. Demographics, pre- and post-ablation ECG intervals, and AV nodal conduction …

Optimal Dosing Of Enoxaparin In Overweight And Obese Children, Abdallah Derbalah, Stephen Duffull, Catherine M. Sherwin, Kathleen Job, Hesham Al‐Sallami

Pediatrics Faculty Publications

Aim:Current enoxaparin dosing guidelines in children are based on total bodyweight. This is potentially inappropriate in obese children as it may overestimate thedrug clearance. Current evidence suggests that obese children may require lower ini-tial doses of enoxaparin, therefore the aim of this work was to characterise the phar-macokinetics of enoxaparin in obese children and to propose a more appropriatedosing regimen.Methods:Data from 196 unique encounters of 160 children who received enoxa-parin treatment doses were analysed. Enoxaparin concentration was quantified usingthe chromogenic anti factor Xa (anti-Xa) assay. Patients provided a total of 552 anti-Xa samples. Existing published pharmacokinetic (PK) models were fitted …

Hypothesis: Hypermobile Ehlers Danlos Syndrome Is A Determinant Of Fetal And Young Infant Bone Strength, Marvin E. Miller

Pediatrics Faculty Publications

Several studies have demonstrated that young infants who present with unexplained fractures have a higher frequency of joint hypermobility, either in themselves or their parents, compared to the general population. The joint hypermobility is often associated with the autosomal dominant hypermobile form of Ehlers Danlos Syndrome (h-EDS) in which the mother is far more likely the affected parent. Most of these infants have metabolic bone disease as their radiographs often show poor bone mineralization. Some have alleged these infants were abused, while others have stated infants who have h-EDS or a parent with h-EDS are at increased risk to fracture …

Clinical Feasibility Of An Advanced Neonatal Epidermal Multiparameter Continuous Monitoring Technology In A Large Public Maternity Hospital In Nairobi, Kenya, Amy Sarah Ginsburg, Sahar Zandi Nia, Dorothy Chomba, Millicent Parsimei, Dustin Dunsmuir, Mary Waiyego, Jesse Coleman, Roseline Ochieng, Guohai Zhou, William Macharia

Paediatrics and Child Health, East Africa

Clinically feasible multiparameter continuous physiological monitoring technologies are needed for use in resource-constrained African healthcare facilities to allow for early detection of critical events and timely intervention for major morbidities in high-risk neonates. We conducted a prospective clinical feasibility study of a novel multiparameter continuous physiological monitoring technology in neonates at Pumwani Maternity Hospital in Nairobi, Kenya. To assess feasibility, we compared the performance of Sibel’s Advanced Neonatal Epidermal (ANNE) technology to reference technologies, including Masimo’s Rad-97 pulse CO-oximeter with capnography technology for heart rate (HR), respiratory rate (RR), and oxygen saturation (SpO2) measurements and Spengler’s Tempo Easy non-contact infrared …

How Climate Change May Threaten Progress In Neonatal Health In The African Region, Britt Nakstad, Veronique Filippi, Adelaide Lusambili, Nathalie Roos, Fiona Scorgie, Matthew F. Chersich, Stanley Luchters, Sari Kovats

Institute for Human Development, East Africa

Climate change is likely to have wide-ranging impacts on maternal and neonatal health in Africa. Populations in low-resource settings already experience adverse impacts from weather extremes, a high burden of disease from environmental exposures, and limited access to high-quality clinical care. Climate change is already increasing local temperatures. Neonates are at high risk of heat stress and dehydration due to their unique metabolism, physiology, growth, and developmental characteristics. Infants in low-income settings may have little protection against extreme heat due to housing design and limited access to affordable space cooling. Climate change may increase risks to neonatal health from weather …

Child Disability And Family-Centred Care In East Africa: Perspectives From A Workshop With Stakeholders And Health Practitioners, Pauline Samia, Susan Wamithi, Amina Kassam, Melissa Tirkha, Edward Kija, Ayalew Moges, Arnab Seal, Peter Rosenbaum, Robert Armstrong

Paediatrics and Child Health, East Africa

Background: Our understanding of child disability has undergone major changes over the last three decades transforming our approach to assessment and management. Globally there are significant gaps in the application of these 21st century models of care. There is recognition that economic, cultural, and social factors influence transitions in care and there is need to consider contextual factors.

Objectives: A two-day workshop brought together key stakeholders to discuss current models of care and their application in the East African context. This article summarises workshop proceedings and identifies a broadly supported set of recommendations that serve to set a …

Variation In The Hemoglobin Glycation Index, James M. Hempe, Daniel S. Hsia

School of Medicine Faculty Publications

A high hemoglobin glycation index (HGI) has been repeatedly associated with greater risk for hypoglycemia in people with diabetes and greater risk for chronic vascular disease in people with or without diabetes. This review explores how different sources of analytical and biological variation in HbA1c and blood glucose individually and collectively affect the clinical information value of HGI. We conclude that HGI is a complex quantitative trait that is a clinically practical biomarker of risk for both hypoglycemia and chronic vascular disease.

Comparison Of Unmet Health Care Needs In Children With Intellectual Disability, Autism Spectrum Disorder And Both Disorders Combined, K. Haller, Adrienne Stolfi, John Duby

Medical Education Faculty Publications

Background: The purpose of this study was to assess the unmet health care needs of children with intellectual disability (ID) compared with children with autism spectrum disorder (ASD) and whether access to health insurance coverage is a contributing factor. Children with ID may be masked in the health care system due to increased diagnosis and awareness of ASD. The needs, unmet needs and insurance coverage of children with ID alone, ASD alone, and co-occurring ID and ASD were assessed in this study.

Methods: The 2016 to 2019 United States' Census Bureau National Survey of Children's Health was used to determine …

Randomized Clinical Trial Of A Self-Care And Communication Intervention For Parents Of Adolescent/Young Adults Undergoing High-Risk Cancer Treatment: A Report From The Children's Oncology Group., Joan E. Haase, Kristin Stegenga, Sheri L. Robb, Mary C. Hooke, Debra S. Burns, Patrick O. Monahan, Timothy E. Stump, Amanda K. Henley, Paul R. Haut, Brooke Cherven, Lona Roll, Anne-Marie Langevin, Rita H. Pickler, Karen Albritton, Deanna Hawkins, Erin Osterkamp, Pauline Mitby, Jackie Smith, Virginia R. Diaz, Erica Garcia-Frausto, Margo Moore

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Parents of adolescents and young adults (AYAs) with cancer offer primary support to their children and often experience their own high levels of distress, affecting parent-AYA communication and quality of life.

OBJECTIVE: To reduce parent distress and improve communication during high-risk cancer treatment, we examined efficacy of a self-care and communication intervention for parents and indirect benefit for AYAs receiving a therapeutic music video (TMV) intervention.

METHODS: In this study, we conducted a multisite, randomized controlled trial with AYAs and parents enrolled as dyads (n = 110). Parents were randomized to intervention or low-dose control; all AYAs received TMV. …

2022-2023 Pediatric Subspecialty Trainees, Children's Mercy Kansas City

Residents and Fellows Portraits

Photo composites of the graduate pediatric trainees in adolescent medicine, allergy/immunology, child abuse pediatrics, child neurology, clinical neuro-psychology, coagulation, congenital cardiac surgery, clinical child psychology, developmental-behavioral pediatrics, epilepsy, hospice & palliative care, laboratory genetics & genomics, pediatric anesthesiology, neonatal-perinatal medicine, pediatric adolescent gynecology, pediatric bioethics, pediatric cardiology, pediatric EM/child abuse, pediatric critical care medicine, pediatric dentistry, pediatric emergency medicine, pediatric endocrinology, pediatric gastroenterology, pediatric hematology/oncology, pediatric hospital medicine, pediatric infectious diseases, pediatric nephrology, pediatric ophthalmology; pediatric optometry, pediatric orthopedic surgery, pediatric otolaryngology, pediatric pathology; pediatric pulmonology, pediatric radiology, pediatric rehabilitation, pediatric sports medicine, pediatric surgery, sleep medicine, pharmacy, pediatric residency …

Disease Burden And Management Of Crigler-Najjar Syndrome: Report Of A World Registry, Sem J Aronson, Norman Junge, Mediha Trabelsi, Wided Kelmemi, Aurelie Hubert, Karlla W Brigatti, Michael D. Fox, Robert J De Knegt, Johanna C Escher, Virginia M Ginocchio, Raffaele Iorio, Yan Zhu, Figen Özçay, Fakher Rahim, Mortada H F El-Shabrawi, Eyal Shteyer, Angelo Di Giorgio, Lorenzo D'Antiga, Federico Mingozzi, Nicola Brunetti-Pierri, Kevin A Strauss, Philippe Labrune, Ridha Mrad, Ulrich Baumann, Ulrich Beuers, Piter J Bosma

Department of Pediatrics Faculty Papers

Background and Aims Crigler-Najjar syndrome (CNS) is a disorder of bilirubin conjugation leading to brain damage and death without treatment. Although cohort studies of limited size have been published, uncertainty about outcome, co-morbidities, occurence of liver fibrosis and treatment outcome remains. With this worldwide cohort study, we aim to add substantial knowledge to the previously published data.

Methods Anonymized retrospective data of CNS patients were collected in a web-based registry platform.

Results Clinical data of 221 CNS patients (46% female, severe phenotype n = 209) were collected. At the time of analysis, 59 CNS patients were deceased. Mean serum total …

Financial Outcomes By Severity Across Children's Hospitals, Jonathan Hartley, Jessica L. Bettenhausen, Matt Hall, David C. Synhorst, Jessica L. Markham, James Gay

Presentations

Background: Hospitalizations represent a significant driver of healthcare costs for children. Little is known about how payor type and the severity of children cared for on the general pediatric inpatient floor impact a hospital’s financial outcomes. Objective: The primary objective of this study is to compare financial outcomes of pediatric hospitalizations to the general floor across patient severity quartiles. Secondary objectives included financial outcomes stratified by payor type across severity quartiles. Methods: Retrospective cohort study included children aged 0-18 years discharged during calendar year 2019 from hospitals that reported clinical information to the Pediatric Health Information System database and financial …

Perioperative Steroid Stress Dosing, Children's Mercy Kansas City

Clinical Pathways (Formally Known As Care Process Models)

No abstract provided.

Colorectal Surgery Enhanced Recovery After Surgery (Eras), Children's Mercy Kansas City

Clinical Pathways (Formally Known As Care Process Models)

No abstract provided.

Cardiac Surgery: Bypass And Thoracotomy Enhanced Recovery After Surgery (Eras), Children's Mercy Kansas City

Clinical Pathways (Formally Known As Care Process Models)

No abstract provided.

Acute Otitis Media: Tympanostomy Antibiotics, Children's Mercy Kansas City

Clinical Critically Appraised Topics

No abstract provided.

Analysis Of Neonatal Neurobehavior And Developmental Outcomes Among Preterm Infants., Elisabeth C. Mcgowan, Julie A. Hofheimer, T Michael O'Shea, Howard Kilbride, Brian S. Carter, Jennifer Check, Jennifer Helderman, Charles R. Neal, Steve Pastyrnak, Lynne M. Smith, Marie Camerota, Lynne M. Dansereau, Sheri A. Della Grotta, Barry M. Lester

Manuscripts, Articles, Book Chapters and Other Papers

Importance: The ability to identify poor outcomes and treatable risk factors among very preterm infants remains challenging; improving early risk detection and intervention targets to potentially address developmental and behavioral delays is needed.

Objective: To determine associations between neonatal neurobehavior using the Neonatal Intensive Care Unit (NICU) Network Neurobehavioral Scale (NNNS), neonatal medical risk, and 2-year outcomes.

Design, Setting, and Participants: This multicenter cohort enrolled infants born at less than 30 weeks' gestation at 9 US university-affiliated NICUs. Enrollment was conducted from April 2014 to June 2016 with 2-year adjusted age follow-up assessment. Data were analyzed from December 2019 to …

Insurance Coverage And Respiratory Morbidities In Bronchopulmonary Dysplasia., Joseph M. Collaco, Michael C. Tracy, Catherine A. Sheils, Jessica L. Rice, Lawrence M. Rhein, Leif D. Nelin, Paul E. Moore, Winston M. Manimtim, Jonathan C. Levin, Khanh Lai, Lystra P. Hayden, Julie L. Fierro, Eric D. Austin, Stamatia Alexiou, Amit Agarwal, Natalie Villafranco, Roopa Siddaiah, Antonia P. Popova, Ioana A. Cristea, Christopher D. Baker, Manvi Bansal, Sharon A. Mcgrath-Morrow

Manuscripts, Articles, Book Chapters and Other Papers

INTRODUCTION: Preterm infants and young children with bronchopulmonary dysplasia (BPD) are at increased risk for acute care utilization and chronic respiratory symptoms during early life. Identifying risk factors for respiratory morbidities in the outpatient setting could decrease the burden of care. We hypothesized that public insurance coverage was associated with higher acute care usage and respiratory symptoms in preterm infants and children with BPD after initial neonatal intensive care unit (NICU) discharge.

METHODS: Subjects were recruited from BPD clinics at 10 tertiary care centers in the United States between 2018 and 2021. Demographics and clinical characteristics were obtained through chart …

Infant Prostatic Rhabdomyosarcoma: A Diagnostic And Therapeutic Challenge, Maren Y Fuller

Faculty, Staff and Student Publications

The following case report describes a case of prostatic rhabdomyosarcoma in a 6-month-old male who presented with urinary retention and constipation. MRI showed a prostatic mass that was displacing the rectum and bladder, leading to bladder outlet obstruction. A suprapubic tube was placed for urinary diversion and a transvesical approach was used for tissue diagnosis. Biopsy confirmed the diagnosis of prostatic rhabdomyosarcoma. Patient underwent chemotherapy regiment with VAC (vincristine, actinomycin D and cyclophosphamide) and subsequently ifosfamide and doxorubicin. Eventually, due to tumor progression, the patient underwent a radical cystoprostatectomy with pelvic lymph node dissection and ileal conduit.