Medicine and Health Sciences Commons^™

Consensus-Based Evaluation Of Outcome Measures In Pediatric Stroke Care: A Toolkit, Samantha J Feldman, Lauren A Beslow, Ryan J Felling, Laura A Malone, Michaela Waak, Stuart Fraser, Nihal Bakeer, Jo Ellen M Lee, Victoria Sherman, Melissa M Howard, Beth Anne Cavanaugh, Robyn Westmacott, Lori C Jordan

Faculty, Staff and Student Publications

Following a pediatric stroke, outcome measures selected for monitoring functional recovery and development vary widely. We sought to develop a toolkit of outcome measures that are currently available to clinicians, possess strong psychometric properties, and are feasible for use within clinical settings. A multidisciplinary group of clinicians and scientists from the International Pediatric Stroke Organization comprehensively reviewed the quality of measures in multiple domains described in pediatric stroke populations including global performance, motor and cognitive function, language, quality of life, and behavior and adaptive functioning. The quality of each measure was evaluated using guidelines focused on responsiveness and sensitivity, reliability, …

Key Drivers Of Family-Level Utility Of Pediatric Genomic Sequencing: A Qualitative Analysis To Support Preference Research, Hadley Stevens Smith, Emily S Bonkowski, Raymond Belanger Deloge, Amanda M Gutierrez, Alva M Recinos, Tara A Lavelle, David L Veenstra, Amy L Mcguire, Stacey Pereira

Center for Medical Ethics and Health Policy Staff Publications

Given that pediatric genomic sequencing (GS) may have implications for the health and well-being of both the child and family, a clearer understanding of the key drivers of the utility of GS from the family perspective is needed. The purpose of this study is to explore what is important to caregivers of pediatric patients regarding clinical GS, with a focus on family-level considerations. We conducted semi-structured interviews with caregivers (n = 41) of pediatric patients who had been recommended for or completed GS that explored the scope of factors caregivers considered when deciding whether to pursue GS for their child. …

Effects Of A School-Based Garden Program On Academic Performance: A Cluster Randomized Controlled Trial, Jaimie N Davis, Katie Nikah, Matthew J Landry, Sarvenaz Vandyousefi, Reem Ghaddar, Matthew Jeans, Michele Hockett Cooper, Bonnie Martin, Lyndsey Waugh, Shreela V Sharma, Alexandra E Van Den Berg

Faculty, Staff and Student Publications

Background: School gardening programs have consistently been found to improve dietary behaviors in children. Although several quasi-experimental studies have also reported that school gardens can enhance academic performance, to date, no randomized controlled trial has been conducted to substantiate this.

Objective: The objective of the study was to examine the effects of Texas Sprouts (TX Sprouts), a gardening, nutrition, and cooking program vs control on academic performance in primarily low-income, Hispanic children.

Design: This is a secondary analysis of the grade-level academic scores from schools that participated in the TX Sprouts program, a school-based cluster randomized controlled trial, consisting of …

Sexual Health And Relationship Abuse Interventions In Pediatric Primary Care: A Systematic Review, Susheel Kant Khetarpal, Sarah Tiffany-Appleton, Erin E Mickievicz, Romina L Barral, Kimberly A Randell, Jeff R Temple, Elizabeth Miller, Maya I Ragavan

Faculty, Staff and Student Publications

PURPOSE: Supporting adolescents in developing healthy relationships and promoting sexual and reproductive health (SRH) is an important responsibility of pediatric primary care providers. Less is known about evidence-based interventions in pediatric settings focused on healthy relationships and SRH.

METHODS: We conducted a systematic review to describe SRH and healthy relationship/adolescent relationship abuse (ARA) interventions for pediatric primary care over the past 20 years. Eligible articles were original research on an SRH-focused or ARA-focused intervention, conducted in-person within pediatric primary care or school-based health centers specifically for middle or high school-aged adolescents. Data abstracted from included articles included intervention description, content, …

Emotional, Behavioral, And Physical Health Consequences Of Loneliness In Young Adult Survivors Of Childhood Cancer: Results From The Childhood Cancer Survivor Study, Chiara Papini, Ameera A Fayad, Mingjuan Wang, Fiona S M Schulte, I-Chan Huang, Yu-Ping Chang, Rebecca M Howell, Deokumar Srivastava, Wendy M Leisenring, Gregory T Armstrong, Todd M Gibson, Leslie L Robison, Kevin C Oeffinger, Kevin R Krull, Tara M Brinkman

Faculty, Staff and Student Publications

Background: Young adults in the general population are at risk of experiencing loneliness, which has been associated with physical and mental health morbidities. The prevalence and consequences of loneliness in young adult survivors of childhood cancer remain unknown.

Methods: A total of 9664 young adult survivors of childhood cancer (median age at diagnosis 10.5 years [interquartile range (IQR), 5-15], 27.1 years at baseline [IQR, 23-32]) and 2221 siblings enrolled in the Childhood Cancer Survivor Study completed a self-reported survey question assessing loneliness on the Brief Symptom Inventory-18 at baseline and follow-up (median follow-up, 6.6 years). Multivariable models evaluated the prevalence …

Incidence Rates Of Medically Attended Covid-19 In Infants Less Than 6 Months Of Age, Isabel Griffin, Stephanie A Irving, Carmen Sofia Arriola, Angela P Campbell, De-Kun Li, Fatimah S Dawood, Caroline Doughty-Skierski, Jeannette R Ferber, Nickolas Ferguson, Louise Hadden, Jillian T Henderson, Mary Juergens, Venkatesh Kancharla, Allison L Naleway, Gabriella Newes-Adeyi, Erin Nicholson, Roxana Odouli, Lawrence Reichle, Mo Sanyang, Kate Woodworth, Flor M Munoz

Faculty, Staff and Students Publications

BACKGROUND: Studies suggest infants may be at increased risk of severe coronavirus disease 2019 (COVID-19) relative to older children, but few data exist regarding the incidence of COVID-19 episodes and associated risk factors. We estimate incidence rates and describe characteristics associated with medically attended COVID-19 episodes among infants younger than 6 months of age.

METHODS: We analyzed electronic medical record data from a cohort of infants born March 1, 2020-February 28, 2021. Data from 3 health care delivery systems included demographic characteristics, maternal and infant outpatient visit and hospitalization diagnoses and severe acute respiratory syndrome coronavirus syndrome 2 (SARS-CoV-2) test …

In-Hospital Mortality Risk Stratification In Children Aged Under 5 Years With Pneumonia With Or Without Pulse Oximetry: A Secondary Analysis Of The Pneumonia Research Partnership To Assess Who Recommendations (Prepare) Dataset, Shubhada Hooli, Carina King, Eric D Mccollum, Tim Colbourn, Norman Lufesi, Charles Mwansambo, Christopher J Gregory, Somsak Thamthitiwat, Clare Cutland, Shabir Ahmed Madhi, Marta C Nunes, Bradford D Gessner, Tabish Hazir, Joseph L Mathew, Emmanuel Addo-Yobo, Noel Chisaka, Mumtaz Hassan, Patricia L Hibberd, Prakash Jeena, Juan M Lozano, William B Macleod, Archana Patel, Donald M Thea, Ngoc Tuong Vy Nguyen, Syed Ma Zaman, Raul O Ruvinsky, Marilla Lucero, Cissy B Kartasasmita, Claudia Turner, Rai Asghar, Salem Banajeh, Imran Iqbal, Irene Maulen-Radovan, Greta Mino-Leon, Samir K Saha, Mathuram Santosham, Sunit Singhi, Shally Awasthi, Ashish Bavdekar, Monidarin Chou, Pagbajabyn Nymadawa, Jean-William Pape, Glaucia Paranhos-Baccala, Valentina Sanchez Picot, Mala Rakoto-Andrianarivelo, Vanessa Rouzier, Graciela Russomando, Mariam Sylla, Philippe Vanhems, Jianwei Wang, Sudha Basnet, Tor A Strand, Mark I Neuman, Luis Martinez Arroyo, Marcela Echavarria, Shinjini Bhatnagar, Nitya Wadhwa, Rakesh Lodha, Satinder Aneja, Angela Gentile, Mandeep Chadha, Siddhivinayak Hirve, Kerry-Ann F O'Grady, Alexey W Clara, Chris A Rees, Harry Campbell, Harish Nair, Jennifer Falconer, Linda J Williams, Margaret Horne, Shamim A Qazi, Yasir Bin Nisar, Pneumonia Research Partnership To Assess Who Recommendations (Prepare) Study Group

Faculty, Staff and Students Publications

OBJECTIVES: We determined the pulse oximetry benefit in pediatric pneumonia mortality risk stratification and chest-indrawing pneumonia in-hospital mortality risk factors.

METHODS: We report the characteristics and in-hospital pneumonia-related mortality of children aged 2-59 months who were included in the Pneumonia Research Partnership to Assess WHO Recommendations dataset. We developed multivariable logistic regression models of chest-indrawing pneumonia to identify mortality risk factors.

RESULTS: Among 285,839 children, 164,244 (57.5%) from hospital-based studies were included. Pneumonia case fatality risk (CFR) without pulse oximetry measurement was higher than with measurement (5.8%, 95% confidence interval [CI] 5.6-5.9% vs 2.1%, 95% CI 1.9-2.4%). One in five …

European Society Of Paediatric Radiology Artificial Intelligence Taskforce: A New Taskforce For The Digital Age, Lene Bjerke Laborie, Jaishree Naidoo, Erika Pace, Pierluigi Ciet, Christine Eade, Matthias W Wagner, Thierry A G M Huisman, Susan C Shelmerdine

Faculty, Staff and Students Publications

A new task force dedicated to artificial intelligence (AI) with respect to paediatric radiology was created in 2021 at the International Paediatric Radiology (IPR) meeting in Rome, Italy (a joint society meeting by the European Society of Pediatric Radiology [ESPR] and the Society for Pediatric Radiology [SPR]). The concept of a separate task force dedicated to AI was borne from an ESPR-led international survey of health care professionals' opinions, expectations and concerns regarding AI integration within children's imaging departments. In this survey, the majority (> 80%) of ESPR respondents supported the creation of a task force and helped define our …

Intranasal Fentanyl And Discharge From The Emergency Department Among Children With Sickle Cell Disease And Vaso-Occlusive Pain: A Multicenter Pediatric Emergency Medicine Perspective, Chris A Rees, David C Brousseau, Fahd A Ahmad, Jonathan Bennett, Seema Bhatt, Amanda Bogie, Kathleen M Brown, T Charles Casper, Laura L Chapman, Corrie E Chumpitazi, Daniel M Cohen, Carlton Dampier, Angela M Ellison, Hartmut Grasemann, Dunia Hatabah, Robert W Hickey, Lewis L Hsu, Nitya Bakshi, Sara Leibovich, Prabhumallikarjun Patil, Elizabeth C Powell, Rachel Richards, Syana Sarnaik, Debra L Weiner, Claudia R Morris, Scd Arginine Study Group And Pecarn

Faculty, Staff and Students Publications

Children with sickle cell disease (SCD) commonly experience vaso-occlusive pain episodes (VOE) due to sickling of erythrocytes, which often requires care in the emergency department. Our objective was to assess the use and impact of intranasal fentanyl for the treatment of children with SCD-VOE on discharge from the emergency department in a multicenter study. We conducted a cross-sectional study at 20 academic pediatric emergency departments in the United States and Canada. We used logistic regression to test bivariable and multivariable associations between the outcome of discharge from the emergency department and candidate variables theoretically associated with discharge. The study included …

Efficacy And Safety Of Lumasiran For Infants And Young Children With Primary Hyperoxaluria Type 1: 12-Month Analysis Of The Phase 3 Illuminate-B Trial, Wesley Hayes, David J Sas, Daniella Magen, Hadas Shasha-Lavsky, Mini Michael, Anne-Laure Sellier-Leclerc, Julien Hogan, Taylor Ngo, Marianne T Sweetser, John M Gansner, Tracy L Mcgregor, Yaacov Frishberg

Faculty, Staff and Students Publications

BACKGROUND: Primary hyperoxaluria type 1 (PH1) is a rare genetic disease that causes progressive kidney damage and systemic oxalosis due to hepatic overproduction of oxalate. Lumasiran demonstrated efficacy and safety in the 6-month primary analysis period of the phase 3, multinational, open-label, single-arm ILLUMINATE-B study of infants and children < 6 years old with PH1 (ClinicalTrials.gov: NCT03905694 (4/1/2019); EudraCT: 2018-004,014-17 (10/12/2018)). Outcomes in the ILLUMINATE-B extension period (EP) for patients who completed ≥ 12 months on study are reported here.

METHODS: Of the 18 patients enrolled in the 6-month primary analysis period, all entered the EP and completed ≥ 6 additional months of lumasiran treatment (median (range) duration of total exposure, 17.8 (12.7-20.5) months).

RESULTS: Lumasiran treatment was previously reported to reduce spot urinary oxalate:creatinine ratio by 72% at month 6, …

Nfkb2 Haploinsufficiency Identified Via Screening For Ifn-Α2 Autoantibodies In Children And Adolescents Hospitalized With Sars-Cov-2-Related Complications, Aaron Bodansky, Sara E Vazquez, Janet Chou, Tanya Novak, Amer Al-Musa, Cameron Young, Margaret Newhams, Suden Kucukak, Laura D Zambrano, Anthea Mitchell, Chung-Yu Wang, Kristin Moffitt, Natasha B Halasa, Laura L Loftis, Stephanie P Schwartz, Tracie C Walker, Elizabeth H Mack, Julie C Fitzgerald, Shira J Gertz, Courtney M Rowan, Katherine Irby, Ronald C Sanders, Michele Kong, Jennifer E Schuster, Mary A Staat, Matt S Zinter, Natalie Z Cvijanovich, Keiko M Tarquinio, Bria M Coates, Heidi R Flori, Mary K Dahmer, Hillary Crandall, Melissa L Cullimore, Emily R Levy, Brandon Chatani, Ryan Nofziger, Overcoming Covid-19 Network Study Group Investigators, Raif S Geha, Joseph Derisi, Angela P Campbell, Mark Anderson, Adrienne G Randolph

Faculty, Staff and Students Publications

BACKGROUND: Autoantibodies against type I IFNs occur in approximately 10% of adults with life-threatening coronavirus disease 2019 (COVID-19). The frequency of anti-IFN autoantibodies in children with severe sequelae of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is unknown.

OBJECTIVE: We quantified anti-type I IFN autoantibodies in a multicenter cohort of children with severe COVID-19, multisystem inflammatory syndrome in children (MIS-C), and mild SARS-CoV-2 infections.

METHODS: Circulating anti-IFN-α2 antibodies were measured by a radioligand binding assay. Whole-exome sequencing, RNA sequencing, and functional studies of peripheral blood mononuclear cells were used to study any patients with levels of anti-IFN-α2 autoantibodies exceeding …

Monogenic Early-Onset Lymphoproliferation And Autoimmunity: Natural History Of Stat3 Gain-Of-Function Syndrome, Jennifer W Leiding, Tiphanie P Vogel, Valentine G J Santarlas, Rahul Mhaskar, Madison R Smith, Alexandre Carisey, Alexander Vargas-Hernández, Manuel Silva-Carmona, Maximilian Heeg, Anne Rensing-Ehl, Bénédicte Neven, Jérôme Hadjadj, Sophie Hambleton, Timothy Ronan Leahy, Kornvalee Meesilpavikai, Charlotte Cunningham-Rundles, Cullen M Dutmer, Svetlana O Sharapova, Mervi Taskinen, Ignatius Chua, Rosie Hague, Christian Klemann, Larysa Kostyuchenko, Tomohiro Morio, Akaluck Thatayatikom, Ahmet Ozen, Anna Scherbina, Cindy S Bauer, Sarah E Flanagan, Eleonora Gambineri, Lisa Giovannini-Chami, Jennifer Heimall, Kathleen E Sullivan, Eric Allenspach, Neil Romberg, Sean G Deane, Benjamin T Prince, Melissa J Rose, John Bohnsack, Talal Mousallem, Rohith Jesudas, Maria Marluce Dos Santos Vilela, Michael O'Sullivan, Jana Pachlopnik Schmid, Štěpánka Průhová, Adam Klocperk, Matthew Rees, Helen Su, Sami Bahna, Safa Baris, Lisa M Bartnikas, Amy Chang Berger, Tracy A Briggs, Shannon Brothers, Vanessa Bundy, Alice Y Chan, Shanmuganathan Chandrakasan, Mette Christiansen, Theresa Cole, Matthew C Cook, Mukesh M Desai, Ute Fischer, David A Fulcher, Silvanna Gallo, Amelie Gauthier, Andrew R Gennery, José Gonçalo Marques, Frédéric Gottrand, Bodo Grimbacher, Eyal Grunebaum, Emma Haapaniemi, Sari Hämäläinen, Kaarina Heiskanen, Tarja Heiskanen-Kosma, Hal M Hoffman, Luis Ignacio Gonzalez-Granado, Anthony L Guerrerio, Leena Kainulainen, Ashish Kumar, Monica G Lawrence, Carina Levin, Timi Martelius, Olaf Neth, Peter Olbrich, Alejandro Palma, Niraj C Patel, Tamara Pozos, Kahn Preece, Saúl Oswaldo Lugo Reyes, Mark A Russell, Yael Schejter, Christine Seroogy, Jan Sinclair, Effie Skevofilax, Daniel Suan, Daniel Suez, Paul Szabolcs, Helena Velasco, Klaus Warnatz, Kelly Walkovich, Austen Worth, Stat3 Gof Working Group Members, Mikko R J Seppänen, Troy R Torgerson, Georgios Sogkas, Stephan Ehl, Stuart G Tangye, Megan A Cooper, Joshua D Milner, Lisa R Forbes Satter

Faculty, Staff and Students Publications

BACKGROUND: In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity.

OBJECTIVE: This pivotal cohort study defines the scope, natural history, treatment, and overall survival of a large global cohort of patients with pathogenic STAT3 GOF variants.

METHODS: We identified 191 patients from 33 countries with 72 unique mutations. Inclusion criteria included symptoms of immune dysregulation and a biochemically confirmed germline heterozygous GOF variant in STAT3.

RESULTS: Overall survival was 88%, median age at onset of symptoms was 2.3 years, and median …

Natural History Of Tango2 Deficiency Disorder: Baseline Assessment Of 73 Patients, Christina Y Miyake, Erica J Lay, Claudia Soler-Alfonso, Kevin E Glinton, Kimberly M Houck, Mustafa Tosur, Nancy E Moran, Sara B Stephens, Fernando Scaglia, Taylor S Howard, Jeffrey J Kim, Tam Dam Pham, Santiago O Valdes, Na Li, Chaya N Murali, Lilei Zhang, Maina Kava, Deane Yim, Cheyenne Beach, Gregory Webster, Leonardo Liberman, Christopher M Janson, Prince J Kannankeril, Samantha Baxter, Moriel Singer-Berk, Jordan Wood, Samuel J Mackenzie, Michael Sacher, Lina Ghaloul-Gonzalez, Claudia Pedroza, Shaine A Morris, Saad A Ehsan, Mahshid S Azamian, Seema R Lalani

Faculty, Staff and Students Publications

PURPOSE: TANGO2 deficiency disorder (TDD), an autosomal recessive disease first reported in 2016, is characterized by neurodevelopmental delay, seizures, intermittent ataxia, hypothyroidism, and life-threatening metabolic and cardiac crises. The purpose of this study was to define the natural history of TDD.

METHODS: Data were collected from an ongoing natural history study of patients with TDD enrolled between February 2019 and May 2022. Data were obtained through phone or video based parent interviews and medical record review.

RESULTS: Data were collected from 73 patients (59% male) from 57 unrelated families living in 16 different countries. The median age of participants at …

Presentation And Prognosis Of Excessive Asymptomatic Atrial Ectopy In Children And Adolescents With Structurally And Functionally Normal Hearts, Thomas R Joyce, James J Joyce, Marye J Gleva, Sunita J Ferns

2020-Current year OA Pubs

Excessive premature atrial complexes (PACs) in pediatric patients with a structurally normal heart are presumed to be benign and self-resolving, but no studies have confirmed this. Adults with excessive PACs, however, are at increased risk for future sustained atrial arrhythmias and cardiovascular morbidity and mortality. Therefore, we sought to evaluate the clinical course of frequent PACs in asymptomatic children. Patients < 21 years old with numerous asymptomatic PACs (>50/24 hours) were retrospectively selected over a 10-year period. Demographics, clinical characteristics, and results of cardiovascular testing were tabulated. Two groups were defined: those with a significant (>20%) reduction in burden of atrial ectopy versus those with an insignificant …

Using Synthetic Mr Images For Distortion Correction, David F Montez, Andrew N Van, Ryland L Miller, Nicole A Seider, Scott Marek, Annie Zheng, Dillan J Newbold, Kristen Scheidter, Benjamin P Kay, Abhinav K Jha, Aristeidis Sotiras, Timothy O Laumann, Evan M Gordon, Nico U F Dosenbach, Et Al.

2020-Current year OA Pubs

Functional MRI (fMRI) data acquired using echo-planar imaging (EPI) are highly distorted by magnetic field inhomogeneities. Distortion and differences in image contrast between EPI and T1-weighted and T2-weighted (T1w/T2w) images makes their alignment a challenge. Typically, field map data are used to correct EPI distortions. Alignments achieved with field maps can vary greatly and depends on the quality of field map data. However, many public datasets lack field map data entirely. Additionally, reliable field map data is often difficult to acquire in high-motion pediatric or developmental cohorts. To address this, we developed Synth, a software package for distortion correction and …

The Who Aware (Access, Watch, Reserve) Antibiotic Book And Prevention Of Antimicrobial Resistance, Veronica Zanichelli, Michael Sharland, Bernadette Cappello, Lorenzo Moja, Haileyesus Getahun, Carmem Pessoa-Silva, Hatim Sati, Catharina Van Weezenbeek, Hanan Balkhy, Mariângela Simão, Sumanth Gandra, Benedikt Huttner

2020-Current year OA Pubs

Guidance on the appropriate use of antibiotics for common infections is lacking in many settings. The World Health Organization (WHO) has recently released

Axatilimab For Chronic Graft-Versus-Host Disease After Failure Of At Least Two Prior Systemic Therapies: Results Of A Phase I/Ii Study, Carrie L Kitko, Iskra Pusic, Et Al.

2020-Current year OA Pubs

PURPOSE: Chronic graft-versus-host disease (cGVHD) remains the major cause of late morbidity after allogeneic hematopoietic cell transplantation. Colony-stimulating factor 1 receptor (CSF-1R)-dependent macrophages promote cGVHD fibrosis, and their elimination in preclinical studies ameliorated cGVHD. Axatilimab is a humanized monoclonal antibody that inhibits CSF-1R signaling and restrains macrophage development.

PATIENTS AND METHODS: This phase I (phI)/phase II (phII) open-label study (ClinicalTrials.gov identifier: NCT03604692) evaluated safety, tolerability, and efficacy of axatilimab in patients age ≥ 6 years with active cGVHD after ≥ 2 prior systemic therapy lines. Primary objectives in phI were to identify the optimal biologic and recommended phII dose and …

Dear Pandemic: A Topic Modeling Analysis Of Covid-19 Information Needs Among Readers Of An Online Science Communication Campaign., Aleksandra M Golos, Sharath Chandra Guntuku, Rachael Piltch-Loeb, Lindsey J Leininger, Amanda M Simanek, Aparna Kumar, Sandra S Albrecht, Jennifer Beam Dowd, Malia Jones, Alison M Buttenheim

College of Nursing Faculty Papers & Presentations

BACKGROUND: The COVID-19 pandemic was accompanied by an "infodemic"-an overwhelming excess of accurate, inaccurate, and uncertain information. The social media-based science communication campaign Dear Pandemic was established to address the COVID-19 infodemic, in part by soliciting submissions from readers to an online question box. Our study characterized the information needs of Dear Pandemic's readers by identifying themes and longitudinal trends among question box submissions.

METHODS: We conducted a retrospective analysis of questions submitted from August 24, 2020, to August 24, 2021. We used Latent Dirichlet Allocation topic modeling to identify 25 topics among the submissions, then used thematic analysis to …

What To Look For In Relationships: Development, Inter-Rater Reliability, And Initial Validity Estimates For A Young Child-Caregiver Relationship Assessment, Joy D. Osofsky, Margaret A. Fields-Olivieri, Andrew L. Frazer, Rebecca A. Graham, Bethany H. Mccurdy, Carl F. Weems

School of Medicine Faculty Publications

Introduction: Observational assessments are important for understanding a range of behaviors and emotions in the young child-caregiver relationship. This paper provides initial data on a multidimensional assessment for professionals who work with young children and their caregivers, the What to Look for in Relationships (WLR). The WLR was designed to assist providers in evaluating strengths and areas for improvement in five areas of young child-caregiver relationship dimensions. This paper reports on the development, interrater reliability, initial convergent and discriminant validity, and incremental utility of the scales. Methods: Data were collected from caregiver-child dyads, who participated in a semi-structured observational caregiver-child …

Relationships Among Biochemical Measures In Children With Diabetic Ketoacidosis, Nicole S Glaser, Michael J Stoner, Maria Y Kwok, Kimberly S Quayle, Kathleen M Brown, Jeff E Schunk, Jennifer L Trainor, Julie K Mcmanemy, Leah Tzimenatos, Arleta Rewers, Lise E Nigrovic, Jonathan E Bennett, Sage R Myers, Mckenna Smith, T Charles Casper, Nathan Kuppermann

Faculty, Staff and Students Publications

OBJECTIVES: Investigating empirical relationships among laboratory measures in children with diabetic ketoacidosis (DKA) can provide insights into physiological alterations occurring during DKA. We determined whether alterations in laboratory measures during DKA conform to theoretical predictions.

METHODS: We used Pearson correlation statistics and linear regression to investigate correlations between blood glucose, electrolytes, pH and PCO2 at emergency department presentation in 1,681 pediatric DKA episodes. Among children with repeat DKA episodes, we also assessed correlations between laboratory measures at the first vs. second episode.

RESULTS: pH and bicarbonate levels were strongly correlated (r=0.64), however, pH and PCO2 were only loosely correlated (r=0.17). …

Protocol And Biomarker Strategy For A Multi-Site Randomized Controlled Trial Examining Biological Mechanisms And Dosing Of Active Music Engagement In Children With Acute Lymphoblastic Leukemia And Lymphoma And Parents., Sheri L. Robb, Kristen A. Russ, Steven J. Holochwost, Kristin Stegenga, Susan M. Perkins, Seethal A. Jacob, Amanda K. Henley, Jessica A. Maclean

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Music therapy is a standard palliative care service in many pediatric and adult hospitals; however, most research has focused on the use of music to improve psychosocial dimensions of health, without considering biological dimensions. This study builds on prior work examining psychosocial mechanisms of action underlying an Active Music Engagement (AME) intervention, designed to help manage emotional distress and improve positive health outcomes in young children with cancer and parents (caregivers), by examining its effects on biomarkers of stress and immune function.

METHODS: This two-group randomized controlled trial (R01NR019190) is designed to examine biological mechanisms of effect and dose-response …

Botulinum Neurotoxin Injections In Children With Self-Injurious Behaviors, Mariam Hull, Mered Parnes, Joseph Jankovic

Faculty, Staff and Students Publications

Self-injurious behaviors are repetitive, persistent actions directed toward one's body that threaten or cause physical harm. These behaviors are seen within a broad spectrum of neurodevelopmental and neuropsychiatric conditions, often associated with intellectual disability. Injuries can be severe and distressing to patients and caregivers. Furthermore, injuries can be life-threatening. Often, these behaviors are challenging to treat and require a tiered, multimodal approach which may include mechanical/physical restraints, behavioral therapy, pharmacotherapy, or in some cases, surgical management, such as tooth extraction or deep brain stimulation. Here, we describe a series of 17 children who presented to our institution with self-injurious behaviors …

Acceptability And User Experiences Of A Patient-Held Smart Card For Antenatal Services In Nigeria: A Qualitative Study, Ijeoma Uchenna Itanyi, Juliet Iwelunmor, John Olajide Olawepo, Semiu Gbadamosi, Alexandra Ezeonu, Adaeze Okoli, Amaka Grace Ogidi, Donaldson Conserve, Byron Powell, Chima Ariel Onoka, Echezona Edozie Ezeanolue

2020-Current year OA Pubs

BACKGROUND: Poor maternal, newborn and child health outcomes remain a major public health challenge in Nigeria. Mobile health (mHealth) interventions such as patient-held smart cards have been proposed as effective solutions to improve maternal health outcomes. Our objectives were to assess the acceptability and experiences of pregnant women with the use of a patient-held smartcard for antenatal services in Nigeria.

METHODS: Using focus group discussions, qualitative data were obtained from 35 pregnant women attending antenatal services in four Local Government Areas (LGAs) in Benue State, Nigeria. The audio-recorded data were transcribed and analyzed using framework analysis techniques such as the …

Effects Of The Covid-19 Pandemic On Physical Activity In Children: A Systematic Rapid Review, Alex Ramirez B.S., Ashley Rapp Mph, Abigail C. Radomsky B.S., Sara Santarossa Phd

Medical Student Research Symposium

Background: Prolonged lockdowns, put in place to mitigate the spread of COVID-19, may have altered physical activity (PA). The goal of this systematic rapid review was to synthesize the global impact of the COVID-19 pandemic on PA of children.

Methods: Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines were used to conduct a database search on 03/29/2021. Included studies were peer- reviewed, in English language, and encompassed both a measure of PA during the COVID-19 pandemic and PA data for children aged 18 and younger. The database search yielded 677 unique citations and, ultimately, 69 articles were included …

An Unusual Case Of Hemophagocytic Lymphohistiocytosis Associated With Mycobacterium Chimaera Or Large-Cell Neuroendocrine Carcinoma, Tejaswi Venigalla, Sheila Kalathil, Meena Bansal, Mark Morginstin, Vinicius Jorge, Patricia Perosio

Einstein Health Papers

Hemophagocytic lymphohistiocytosis (HLH) is a rare and very dangerous condition characterized by abnormal activation of the immune system, causing hemophagocytosis, inflammation, and potentially widespread organ damage. The primary (genetic) form, caused by mutations affecting lymphocyte cytotoxicity, is most commonly seen in children. Secondary HLH is commonly associated with infections, malignancies, and rheumatologic disorders. Most current information on diagnosis and treatment is based on pediatric populations. HLH is a disease that should be diagnosed and treated promptly, otherwise it is fatal. Treatment is directed at treating the triggering disorder, along with symptomatic treatment with dexamethasone and etoposide. We present a 56-year-old …

Dna Damage Response-Related Proteins Are Prognostic For Outcome In Both Adult And Pediatric Acute Myelogenous Leukemia Patients: Samples From Adults And From Children Enrolled In A Children's Oncology Group Study, Stefan E Hubner, Eduardo S De Camargo Magalhães, Fieke W Hoff, Brandon D Brown, Yihua Qiu, Terzah M Horton, Steven M Kornblau

Faculty, Staff and Student Publications

The survival of malignant leukemic cells is dependent on DNA damage repair (DDR) signaling. Reverse Phase Protein Array (RPPA) data sets were assembled using diagnostic samples from 810 adult and 500 pediatric acute myelogenous leukemia (AML) patients and were probed with 412 and 296 strictly validated antibodies, respectively, including those detecting the expression of proteins directly involved in DDR. Unbiased hierarchical clustering identified strong recurrent DDR protein expression patterns in both adult and pediatric AML. Globally, DDR expression was associated with gene mutational statuses and was prognostic for outcomes including overall survival (OS), relapse rate, and remission duration (RD). In …

Three-Year Update Of Tisagenlecleucel In Pediatric And Young Adult Patients With Relapsed/Refractory Acute Lymphoblastic Leukemia In The Eliana Trial., Theodore W. Laetsch, Shannon L. Maude, Susana Rives, Hidefumi Hiramatsu, Henrique Bittencourt, Peter Bader, André Baruchel, Michael Boyer, Barbara De Moerloose, Muna Qayed, Jochen Buechner, Michael A. Pulsipher, Douglas Myers, Heather E. Stefanski, Paul L. Martin, Eneida Nemecek, Christina Peters, Gregory Yanik, Seong Lin Khaw, Kara L. Davis, Joerg Krueger, Adriana Balduzzi, Nicolas Boissel, Ranjan Tiwari, Darragh O'Donovan, Stephan A. Grupp

Manuscripts, Articles, Book Chapters and Other Papers

In the primary analysis of the global phase II ELIANA trial (ClinicalTrials.gov identifier: NCT02435849), tisagenlecleucel provided an overall remission rate of 81% in pediatric and young adult patients with relapsed or refractory B-cell acute lymphoblastic leukemia (R/R B-ALL), with 59% of responders remaining relapse-free at 12 months. Here, we report an update on efficacy, safety, and patient-reported quality of life in 79 pediatric and young adult patients with R/R B-ALL following a median follow-up of 38.8 months. The overall remission rate was 82%. The median event-free survival was 24 months, and the median overall survival was not reached. Event-free …

Risk And Resilient Functioning Of Families Of Children With Cancer During The Covid-19 Pandemic., Renee Gilbert, Carolyn R Bates, Devanshi Khetawat, Meredith Dreyer Gillette, Rachel Moore

Manuscripts, Articles, Book Chapters and Other Papers

Previous literature highlights the impact of COVID-19 on family functioning. Less is known about the impact of the pandemic on families of pediatric cancer patients. In order to determine universal and unique risk and resilience factors of these families during the pandemic, a qualitative analysis was conducted on families currently receiving cancer treatment at a Midwestern hospital. Results of the data analysis depict ways in which these families have been impacted by and have adapted to COVID-19. These findings suggest that families of pediatric cancer patients have unique experiences in the context of COVID-19, in addition to universal experiences outlined …

Partnering With Patients And Families Living With Chronic Conditions To Coproduce Diagnostic Safety Through Ourdx: A Previsit Online Engagement Tool, Sigall K Bell, Zhiyong J Dong, Catherine M Desroches, Nicholas Hart, Stephen Liu, Brianna Mahon, Long H Ngo, Eric J Thomas, Fabienne Bourgeois

Faculty, Staff and Student Publications

OBJECTIVE: Patients and families are key partners in diagnosis, but methods to routinely engage them in diagnostic safety are lacking. Policy mandating patient access to electronic health information presents new opportunities. We tested a new online tool ("OurDX") that was codesigned with patients and families, to determine the types and frequencies of potential safety issues identified by patients/families with chronic health conditions and whether their contributions were integrated into the visit note.

METHODS: Patients/families at 2 US healthcare sites were invited to contribute, through an online previsit survey: (1) visit priorities, (2) recent medical history/symptoms, and (3) potential diagnostic concerns. …

Use Of Dual Genomic Sequencing To Screen Mitochondrial Diseases In Pediatrics: A Retrospective Analysis, Teng-Hui Wu, Jing Peng, Li Yang, Yan-Hui Chen, Xiu-Lan Lu, Jiao-Tian Huang, Jie-Yu You, Wen-Xian Ou-Yang, Yue-Yu Sun, Yi-Nan Xue, Xiao Mao, Hui-Ming Yan, Rong-Na Ren, Jing Xie, Zhi-Heng Chen, Victor-Wei Zhang, Gui-Zhen Lyu, Fang He

Children’s Nutrition Research Center Staff Publications

Mitochondrial diseases (MDs) were a large group multisystem disorders, attributable in part to the dual genomic control. The advent of massively sequencing has improved diagnostic rates and speed, and was increasingly being used as a first-line diagnostic test. Paediatric patients (aged <  18 years) who underwent dual genomic sequencing were enrolled in this retrospective multicentre study. We evaluated the mitochondrial disease criteria (MDC) and molecular diagnostic yield of dual genomic sequencing. Causative variants were identified in 177 out of 503 (35.2%) patients using dual genomic sequencing. Forty-six patients (9.1%) had mitochondria-related variants, including 25 patients with nuclear DNA (nDNA) variants, 15 with mitochondrial DNA (mtDNA) variants, and six with dual genomic variants (MT-ND6 and POLG; MT-ND5 and RARS2; MT-TL1 and NARS2; MT-CO2 and NDUFS1; MT-CYB and SMARCA2; and CHRNA4 and MT-CO3). Based on the MDC, 15.2% of the patients with mitochondria-related variants were classified as "unlikely to have mitochondrial disorder". Moreover, 4.5% of the patients with non-mitochondria-related variants and 1.43% with negative genetic tests, were classified as "probably having mitochondrial disorder". Dual genomic sequencing in suspected MDs provided a more comprehensive and accurate diagnosis for pediatric patients, especially for patients with dual genomic variants.