Pediatrics Commons^™

Routine Immunization Coverage And Immunization Card Retention In Pakistan: Results From A Cross-Sectional National Survey, Imtiaz Hussain, Ahmad Khan, Dale A. Rhoda, Imran Ahmed, Muhammad Umer, Uzair Ansari, Muhammad Akram Shah, Soofia Yunus, Sajid Bashir Soofi, Zulfiqar Ahmed Bhutta

Department of Paediatrics and Child Health

Background: Immunization is one of the most successful public health interventions available, saving millions of lives from death and disability each year. Therefore, improving immunization coverage is a high priority for the Government of Pakistan and essential to progress toward universal health coverage. This survey reports the national and provincial/regional coverage and determinants of fully, partially, and not-vaccinated children aged 12–23 months, antigen-wise coverage, percentage of home-based vaccination records (HBR) retention, and reasons for nonretention; dropout, timeliness, and prevalence of missed opportunities for simultaneous vaccination (MOSV).
Methods: The survey was a descriptive cross-sectional national household survey carried out across Pakistan. …

Immunity To Poliovirus In Afghanistan: A Household Sampling Method For Serological Assessment Based On Geographical Information Systems, Amalia Mendes, Ari Whiteman, Benjamin Nygren, Brian Kaplan, Imtiaz Hussain, Sajid Bashir Soofi, Maureen Martinez, Noha H. Farag

Department of Paediatrics and Child Health

Afghanistan continues to experience challenges affecting polio eradication. Mass polio vaccination campaigns, which aim to protect children under the age of 5, are a key eradication strategy. To date, the polio program in Afghanistan has only employed facility-based seroprevalence surveys, which can be subject to sampling bias. We describe the feasibility in implementing a cross-sectional household poliovirus seroprevalence survey based on geographical information systems (GIS) in three districts. Digital maps with randomly selected predetermined starting points were provided to teams, with a total target of 1,632 households. Teams were instructed to navigate to predetermined starting points and enrol the closest …

Professional Perspectives On Bilingualism In Persons With Autism Spectrum Disorder: A Pilot Study, Rosa N. Benavidez Saldivar, Jessica R. Stewart, Ruth Crutchfield, Roy K. Chen, Lily Puente

Internet Journal of Allied Health Sciences and Practice

Purpose: The present study examined the perspectives of professionals regarding bilingualism and ASD. Methods: A total of 27 professionals participated in this study. Data was collected via an online survey. The survey was designed based on a literature review and consultation with a team of experts in the field of ASD. Information relating to demographic information, professional practice information, and perspectives of bilingualism and ASD was collected. Results: Professionals participating in the present study were most likely to agree with the statement, “A child with ASD from a bilingual household is able to understand both languages” and least likely to …

The Diagnosis Of Severe Combined Immunodeficiency: Implementation Of The Pidtc 2022 Definitions, Christopher C. Dvorak, Elie Haddad, Jennifer Heimall, Elizabeth Dunn, Morton J. Cowan, Sung-Yun Pai, Neena Kapoor, Lisa Forbes Satter, Rebecca H. Buckley, Richard J. O'Reilly, Sharat Chandra, Jeffrey J. Bednarski, Olatundun Williams, Ahmad Rayes, Theodore B. Moore, Christen L. Ebens, Blachy J. Davila Saldana, Aleksandra Petrovic, Deepak Chellapandian, Geoffrey D. E. Cuvelier, Mark T. Vander Lugt, Emi H. Caywood, Shanmuganathan Chandrakasan, Hesham Eissa, Frederick D. Goldman, Evan Shereck, Victor M. Aquino, Kenneth B. Desantes, Lolie Yu, Et Al

School of Medicine Faculty Publications

Background: Shearer et al in 2014 articulated well-defined criteria for the diagnosis and classification of severe combined immunodeficiency (SCID) as part of the Primary Immune Deficiency Treatment Consortium's (PIDTC's) prospective and retrospective studies of SCID. Objective: Because of the advent of newborn screening for SCID and expanded availability of genetic sequencing, revision of the PIDTC 2014 Criteria was needed. Methods: We developed and tested updated PIDTC 2022 SCID Definitions by analyzing 379 patients proposed for prospective enrollment into Protocol 6901, focusing on the ability to distinguish patients with various SCID subtypes. Results: According to PIDTC 2022 Definitions, 18 of 353 …

Amplification Of The Plag-Family Genes-Plagl1 And Plagl2-Is A Key Feature Of The Novel Tumor Type Cns Embryonal Tumor With Plagl Amplification, Michaela-Kristina Keck, Martin Sill, Andrea Wittmann, Piyush Joshi, Damian Stichel, Pengbo Beck, Konstantin Okonechnikow, Philipp Sievers, Annika K. Wefers, Nasir Uddin

Department of Pathology and Laboratory Medicine

Pediatric central nervous system (CNS) tumors represent the most common cause of cancer-related death in children aged 0-14 years. They differ from their adult counterparts, showing extensive clinical and molecular heterogeneity as well as a challenging histopathological spectrum that often impairs accurate diagnosis. Here, we use DNA methylation-based CNS tumor classification in combination with copy number, RNA-seq, and ChIP-seq analysis to characterize a newly identified CNS tumor type. In addition, we report histology, patient characteristics, and survival data in this tumor type. We describe a biologically distinct pediatric CNS tumor type (n = 31 cases) that is characterized by focal …

Validation Of Prediction Rules For Computed Tomography Use In Children With Blunt Abdominal Or Blunt Head Trauma: Protocol For A Prospective Multicenter Observational Cohort Study, Kevan A Mccarten-Gibbs, Donovan Nielsen, P David Adelson, Jeffrey Upperman, Daniel Tancredi, Nathan Kuppermann, James F Holmes

Faculty, Staff and Student Publications

BACKGROUND: Traumatic brain injuries (TBIs) and intra-abdominal injuries (IAIs) are 2 leading causes of traumatic death and disability in children. To avoid missed or delayed diagnoses leading to increased morbidity, computed tomography (CT) is used liberally. However, the overuse of CT leads to inefficient care and radiation-induced malignancies. Therefore, to maximize precision and minimize the overuse of CT, the Pediatric Emergency Care Applied Research Network (PECARN) previously derived clinical prediction rules for identifying children at high risk and very low risk for IAIs undergoing acute intervention and clinically important TBIs after blunt trauma in large cohorts of children who are …

Tonsillectomy In Children With 22q11.2 Deletion Syndrome., Jill M. Arganbright, Paul Bryan Hankey, Meghan Tracy, Srivats Narayanan, Janelle R. Noel-Macdonnell Phd, David G. Ingram Md

Manuscripts, Articles, Book Chapters and Other Papers

Tonsillectomy is one of the most common procedures performed in children, however there are currently no published studies evaluating tonsillectomy in children with 22q11.2 deletion syndrome (22q11DS). With this study, our goal was to investigate the indications, efficacy, and complications of tonsillectomy in a pediatric cohort of patients with 22q11DS. This is a retrospective chart review of patients in our 22q Center's repository. Inclusion criteria were a diagnosis of 22q11DS and a history of tonsillectomy or adenotonsillectomy. Data collected included: indications for tonsillectomy, preoperative and postoperative polysomnography (PSG) results, and surgical complications. In total, 33 patients were included. Most common …

Mechanisms Of Recovery: Community Perceptions Of Change And Growth Following Multiple Disasters, Howard Osofsky, Joy Osofsky, Leia Y. Saltzman, Estilla Lightfoot, Jule De King, Tonya C. Hansel

School of Medicine Faculty Publications

Introduction and purpose: The geographic location of the Gulf South leaves communities in continuous threat, response, and recovery disaster cycles. Hurricane Katrina in 2005 provided an opportunity to study disaster mental health. Less than 5 years after the storm, many Hurricane Katrina survivors were impacted again by the Deepwater Horizon Gulf oil spill. Despite adversities impacting Gulf communities, over 90% of participants reported they were resilient. The purpose of this study was to improve the understanding of the mechanisms that contribute to strengths following adversity in communities affected by repeated disasters. Specifically, we focused on survivor perceptions of personal, spiritual, …

Psychometric Properties Of The Sindhi Version Of The Mood And Feelings Questionnaire (Mfq) In A Sample Of Early Adolescents Living In Rural Pakistan, Janavi Shetty, Florence Perquier, Susan C. Campisi, Yaqub Wasan, Madison Aitken, Daphne J. Korczak, Suneeta Monga, Sajid Bashir Soofi, Peter Szatmari, Zulfiqar Ahmed Bhutta

Centre of Excellence in Women and Child Health

There is a need for reliable and valid screening tools that assess depressive symptoms in adolescents in Pakistan. To address this need, the present study examined the psychometric properties and factor structure of a Sindhi-translated and adapted version of the child-report Mood and Feelings Questionnaire (MFQ-C) and the Short Mood and Feelings Questionnaire (SMFQ-C) in a community sample of adolescents living in Matiari, Pakistan. Questionnaires were translated into Sindhi and administered by study psychologists to 1350 participants (52.3% female) 9.0 to 15.9 years old. Measurement structure was examined using confirmatory factor analysis. Internal consistency was estimated, and convergent and divergent …

Pregnancy Outcomes Of Patients With Ultrasound-Indicated And History-Indicated Mcdonald Cervical Cerclage, Zaibunnisa Memon, Naureen Anjum, Zahra Hoodbhoy

Department of Obstetrics & Gynaecology

Objective: To assess pregnancy outcomes of patients with ultrasound-indicated and history-indicated McDonald cervical cerclage.
Materials and methods: This was a cross-sectional study of pregnant women who had cervical cerclage performed at Aga Khan University Hospital, Karimabad campus. We obtained Institutional Review Board approval and reviewed the medical records of patients. A purposive continuous sampling technique was used. A total of 88 patients were included. There were no exclusion criteria. Outcome data were collected from the medical record of patients from January 2010 to December 2016.
Results: Analysis reported a statistically significant lower gravidity and parity in the scan-indicated group as …

Ventricular Septal Defect Doppler Peak Gradient Underestimates Right Ventricular Systolic Pressure In The Presence Of Right Bundle Branch Block

Faculty, Staff and Student Publications

Estimation of the right ventricular systolic pressure (RVSP) using echocardiographically derived maximal instantaneous gradient across the ventricular septal defect is a well-utilized tool, which can potentially underestimate the RVSP in patients with conduction abnormalities as such its utility in these patients is questionable.

Ventilation Strategies During Extracorporeal Membrane Oxygenation For Neonatal Respiratory Failure: Current Approaches Among Level Iv Neonatal Icus, John Ibrahim, Burhan Mahmood, Robert Digeronimo, Natalie E Rintoul, Shannon E Hamrick, Rachel Chapman, Sarah Keene, Ruth B Seabrook, Zeenia Billimoria, Rakesh Rao, John Daniel, John Cleary, Kevin Sullivan, Brian Gray, Mark Weems, Daniel R Dirnberger

Department of Pediatrics Faculty Papers

To describe ventilation strategies used during extracorporeal membrane oxygenation (ECMO) for neonatal respiratory failure among level IV neonatal ICUs (NICUs).

Design: Cross-sectional electronic survey.

Setting: Email-based Research Electronic Data Capture survey.

Patients: Neonates undergoing ECMO for respiratory failure at level IV NICUs.

Interventions: A 40-question survey was sent to site sponsors of regional referral neonatal ECMO centers participating in the Children's Hospitals Neonatal Consortium. Reminder emails were sent at 2- and 4-week intervals.

Measurements and main results: Twenty ECMO centers responded to the survey. Most primarily use venoarterial ECMO (65%); this percentage is higher (90%) for congenital diaphragmatic hernia. Sixty-five …

A Roadmap For Potential Improvement Of Newborn Screening For Inherited Metabolic Diseases Following Recent Developments And Successful Applications Of Bivariate Normal Limits For Pre-Symptomatic Detection Of Mps I, Pompe Disease, And Krabbe Disease, Kabir Jalal, Randy L Carter, Amy Barczykowski, Shunji Tomatsu, Thomas J Langan

Department of Pediatrics Faculty Papers

The mucopolysaccharidoses (MPS), Pompe Disease (PD), and Krabbe disease (KD) are inherited conditions known as lysosomal storage disorders (LSDs) The resulting enzyme deficiencies give rise to progressive symptoms. The United States Department of Health and Human Services' Recommended Uniform Screening Panel (RUSP) suggests LSDs for inclusion in state universal newborn screening (NBS) programs and has identified screening deficiencies in MPS I, KD, and PD NBS programs. MPS I NBS programs utilize newborn dried blood spots and assay alpha L-iduronidase (IDUA) enzyme to screen for potential cases. Glycosaminoglycans (GAGs) offer potential as a confirmatory test. KD NBS programs utilize galactocerebrosidase (GaLC) …

Screening For Social Determinants Of Health To Improve Care In Pediatric Patients With Recurrent Urinary Tract Infections: A Scoping Review, Emily Gray Msn, Fnp-C, Michelle Rickard Dnp, Cpnp-Ac

Doctor of Nursing Practice Projects

Purpose: To describe what is known about how SDoH screening impacts adherence to treatment in pediatric patients with recurrent UTIs.

Effect Of Dexamethasone On Newborn Survival At Different Administration-To-Birth Intervals: A Secondary Analysis Of The Who Action (Antenatal Corticosteroids For Improving Outcomes In Preterm Newborn)-I Trial, Who Action Trials Collaborators, Olufemi T. Oladapo, Joshua P. Vogel, Gilda Piaggio, My Huong Nguyen, Fernando Althabe, Rajiv Bahl, Suman P. N. Rao, Shabina Ariff, Sajid Bashir Soofi, Lumaan Sheikh

Department of Paediatrics and Child Health

Background: The WHO ACTION-I trial demonstrated that dexamethasone significantly reduced neonatal mortality when administered to women at risk of early preterm birth in low-resource countries. We conducted a secondary analysis to determine how these benefits can be optimised, by evaluating the effect of dexamethasone compared to placebo on newborn mortality and severe respiratory distress outcomes at different administration-to-birth intervals, and identifying the interval with the greatest benefits.
Methods: The WHO ACTION-I trial was a multi-country, individually-randomised, parallel-group, double-blind, placebo-controlled trial. It was conducted in 29 hospitals across Bangladesh, India, Kenya, Nigeria, and Pakistan. Women with a viable singleton or multiple …

The Gain Of Function Scn1a Disorder Spectrum: Novel Epilepsy Phenotypes And Therapeutic Implications, Andreas Brunklaus, Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki, Mihaela Adela Vintan, Joseph Symonds, James Andrew, Alexis Arzimanoglou, Sarah Delima, Julie Gallois, Donncha Hanrahan, Gaetan Lesca, Stewart Macleod, Dragan Marjanovic, Amy Mctague, Noemi Nuñez-Enamorado, Eduardo Perez-Palma, M. Scott Perry, Karen Pysden, Sophie J. Russ-Hall, Ingrid E. Scheffer, Krystal Sully, Steffen Syrbe, Ulvi Vaher, Murugan Velayutham

School of Medicine Faculty Publications

Brain voltage-gated sodium channel NaV1.1 (SCN1A) loss-of-function variants cause the severe epilepsy Dravet syndrome, as well as milder phenotypes associated with genetic epilepsy with febrile seizures plus. Gain of function SCN1A variants are associated with familial hemiplegic migraine type 3. Novel SCN1A-related phenotypes have been described including early infantile developmental and epileptic encephalopathy with movement disorder, and more recently neonatal presentations with arthrogryposis. Here we describe the clinical, genetic and functional evaluation of affected individuals. Thirty-five patients were ascertained via an international collaborative network using a structured clinical questionnaire and from the literature. We performed whole-cell voltage-clamp electrophysiological recordings comparing …

Frosted Branch Angiitis Presenting After A Sars-Cov-2 Infection., Akhila Alapati, Nathaniel Cameron, Sean Gratton, Erin Stahl, Mary Champion

Manuscripts, Articles, Book Chapters and Other Papers

PURPOSE: To report a case of frosted branch angiitis presenting in a pediatric patient with unremarkable laboratory work-up apart from SARS-CoV-2 IgG antibodies.

OBSERVATIONS: Less than four weeks after a SARS-CoV-2 infection, a 10 year-old female presented to the emergency department with severe headache and intermittent fevers. During her hospital admission, the ophthalmology service was consulted for blurry vision. Subsequent eye examination revealed frosted branch angiitis. The patient initially received intravenous corticosteroids but was escalated to plasmapheresis to achieve resolution of her symptoms. Outpatient maintenance therapy consisted of an oral Prednisone taper and Infliximab infusion.

CONCLUSION AND IMPORTANCE: This case …

Changes In Prenatal Testing During The Covid-19 Pandemic, Sara C Handley, Rachel Ledyard, Lisbet S Lundsberg, Molly Passarella, Nancy Yang, Moeun Son, Kathryn Mckenney, Jay S. Greenspan, Kevin Dysart, Jennifer F Culhane, Heather H Burris

Department of Pediatrics Faculty Papers

Objective: The coronavirus disease 2019 (COVID-19) pandemic disrupted healthcare delivery, including prenatal care. The study objective was to assess if timing of routine prenatal testing changed during the COVID-19 pandemic.

Methods: Retrospective observational cohort study using claims data from a regional insurer (Highmark) and electronic health record data from two academic health systems (Penn Medicine and Yale New Haven) to compare prenatal testing timing in the pre-pandemic (03/10/2018-12/31/2018 and 03/10/2019-12/31/2019) and early COVID-19 pandemic (03/10/2020-12/31/2020) periods. Primary outcomes were second trimester fetal anatomy ultrasounds and gestational diabetes (GDM) testing. A secondary analysis examined first trimester ultrasounds.

Results: The three datasets …

Evaluation Of Pharmaceutically Compounded Oral Caffeine On The Impact Of Medication Adherence And Risk Of Readmission Among Preterm Neonates: A Single-Center Quasi-Experimental Study, Gul Ambreen, Manoj Kumar, Amin Ali, Syed Akbar Ali Shah, Syed Muzaffar Saleem, Ayesha Tahir, Muhammad Sohail Salat, Muhammad Shahzad Aslam, Kashif Hussain

Department of Biological & Biomedical Sciences

Background: Caffeine is available in an ampoule, used via parenteral and enteral routes in preterm neonates to treat apnea of prematurity (AOP) in neonates of gestational age ≥ 35-40 weeks. A longer duration of therapy has a higher risk of medication non-adherence due to higher costs and inappropriate dosage forms. Pharmaceutically compounded oral caffeine (PCC) could be an appropriate alternate dosage form. The researchers aimed to determine the impact of PCC on medication-related factors influencing medication adherence (MA) and the frequency of hospital readmission with apnea (HRA) in preterm neonates.
Methods: We conducted a single-center quasi-experimental study for this quality …

Metabolic Pathways Enriched According To Erg Status Are Associated With Biochemical Recurrence In Hispanic/Latino Patients With Prostate Cancer, Natalia L. Acosta-Vega, Rodolfo Varela, Jorge Andrés Mesa, Jone Garai, Melody C. Baddoo, Alberto Gómez-Gutiérrez, Silvia J. Serrano-Gómez, Marcela Nuñez Lemus, Martha Lucía Serrano, Jovanny Zabaleta, Alba L. Combita, María Carolina Sanabria-Salas

School of Medicine Faculty Publications

Background: The role of ERG-status molecular subtyping in prognosis of prostate cancer (PCa) is still under debate. In this study, we identified differentially expressed genes (DEGs) according to ERG-status to explore their enriched pathways and implications in prognosis in Hispanic/Latino PCa patients. Methods: RNA from 78 Hispanic PCa tissues from radical prostatectomies (RP) were used for RNA-sequencing. ERGhigh/ERGlow tumor groups were determined based on the 1.5-fold change median expression in non-tumor samples. DEGs with a False Discovery Rate (FDR) < 0.01 and a fold change >2 were identified between ERGhigh and ERGlow tumors and submitted to enrichment analysis in MetaCore. Survival and association analyses were performed …