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Pediatrics

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Full-Text Articles in Medical Specialties

Personalized Digital Phenotype Score, Healthcare Management And Intervention Strategies Using Knowledge Enabled Digital Health Framework For Pediatric Asthma, Utkarshani Jaimini, Amit Sheth Jun 2021

Personalized Digital Phenotype Score, Healthcare Management And Intervention Strategies Using Knowledge Enabled Digital Health Framework For Pediatric Asthma, Utkarshani Jaimini, Amit Sheth

Publications

Asthma is a personalized, and multi-trigger respiratory condition which requires continuous monitoring and management of symptoms and medication adherence. We developed kHealth: Knowledge-enabled Digital Healthcare Framework to monitor and manage the asthma symptoms, medication adherence, lung function, daily activity, sleep quality, indoor, and outdoor environmental triggers of pediatric asthma patients. The kHealth framework collects up to 1852 data points per patient per day. It is practically impossible for the clinicians, parents, and the patient to analyze this vast amount of multimodal data collected from the kHealth framework. In this chapter, we describe the personalized scores, clinically relevant asthma categorization using …


Aerosolized Surfactant For Preterm Infants With Respiratory Distress Syndrome, Mandy Brasher, Thomas M. Raffay, M. Douglas Cunningham, Elie G. Abu Jawdeh Jun 2021

Aerosolized Surfactant For Preterm Infants With Respiratory Distress Syndrome, Mandy Brasher, Thomas M. Raffay, M. Douglas Cunningham, Elie G. Abu Jawdeh

Pediatrics Faculty Publications

Currently, the administration of surfactant to preterm infants with respiratory distress syndrome (RDS) mainly relies on intratracheal instillation; however, there is increasing evidence of aerosolized surfactant being an effective non-invasive strategy. We present a historical narrative spanning sixty years of development of aerosolization systems. We also offer an overview of the pertinent mechanisms needed to create and manage the ideal aerosolization system, with a focus on delivery, distribution, deposition, and dispersion in the context of the human lung. More studies are needed to optimize treatment with aerosolized surfactants, including determination of ideal dosages, nebulizer types, non-invasive interfaces, and breath synchronization. …


Development Of The Infant Gut Microbiome Predicts Temperament Across The First Year Of Life, Molly Fox, S. Melanie Lee, Kyle S. Wiley, Venu Lagishetty, Curt A. Sandman, Jonathan P. Jacobs, Laura M. Glynn Jun 2021

Development Of The Infant Gut Microbiome Predicts Temperament Across The First Year Of Life, Molly Fox, S. Melanie Lee, Kyle S. Wiley, Venu Lagishetty, Curt A. Sandman, Jonathan P. Jacobs, Laura M. Glynn

Psychology Faculty Articles and Research

Perturbations to the gut microbiome are implicated in altered neurodevelopmental trajectories that may shape life span risk for emotion dysregulation and affective disorders. However, the sensitive periods during which the microbiome may influence neurodevelopment remain understudied. We investigated relationships between gut microbiome composition across infancy and temperament at 12 months of age. In 67 infants, we examined if gut microbiome composition assessed at 1–3 weeks, 2, 6, and 12 months of age was associated with temperament at age 12 months. Stool samples were sequenced using the 16S Illumina MiSeq platform. Temperament was assessed using the Infant Behavior Questionnaire-Revised (IBQ-R). Beta …


Prevalence And Risk Factors Associated With Multi-Drug Resistant Organisms (Mdro) Carriage Among Pediatric Patients At The Time Of Admission In A Tertiary Care Hospital Of A Developing Country. A Cross-Sectional Study, Sonia Qureshi, Noshi Maria, Mohammad Zeeshan, Seema Irfan, Farah Naz Qamar Jun 2021

Prevalence And Risk Factors Associated With Multi-Drug Resistant Organisms (Mdro) Carriage Among Pediatric Patients At The Time Of Admission In A Tertiary Care Hospital Of A Developing Country. A Cross-Sectional Study, Sonia Qureshi, Noshi Maria, Mohammad Zeeshan, Seema Irfan, Farah Naz Qamar

Department of Paediatrics and Child Health

Background: The rise of Multidrug-resistant organisms (MDROs) poses a considerable burden on the healthcare systems, particularly in low-middle income countries like Pakistan. There is a scarcity of data on the carriage of MDRO particularly in the pediatrics population therefore, we aimed to determine MDRO carriage in pediatric patients at the time of admission to a tertiary care hospital in Karachi, Pakistan, and to identify the risk factors associated with it.
Methods: A cross-sectional study conducted at the pediatric department of Aga Khan University Hospital (AKUH) from May to September 2019 on 347 children aged 1-18 years. For identification of MDRO …


Qualitative Exploration Of Mealtime Routines And Parental Stress Of Children With Pediatric Feeding Disorders: Analysis Of Occupational Performance, Andrea Patino Jun 2021

Qualitative Exploration Of Mealtime Routines And Parental Stress Of Children With Pediatric Feeding Disorders: Analysis Of Occupational Performance, Andrea Patino

Student Capstone Papers

Pediatric feeding disorders (PFD) affect approximately 25-35% of children with typical development, 40-80% of children with developmental disabilities, and 90% of children with autism spectrum disorder (ASD). Feeding disorders affect families by disrupting mealtime routines, changing family dynamics, and increasing parental stress. Occupational therapy (OT) focuses on client-centered care that facilitates independence in meaningful occupations, including feeding and eating. OTs also play an essential role in assisting, training, and educating parents on effective mealtime strategies that can be implemented and carried over into the home environment. Few research studies show how parents manage behaviors and stress during mealtime routines, and …


A Novel Approach To Explore Safety-I And Safety-Ii Perspectives In In Situ Simulations-The Structured What If Functional Resonance Analysis Methodology., Ralph James Mackinnon, Karin Pukk-Härenstam, Christopher S. Kennedy, Erik Hollnagel, David Slater Jun 2021

A Novel Approach To Explore Safety-I And Safety-Ii Perspectives In In Situ Simulations-The Structured What If Functional Resonance Analysis Methodology., Ralph James Mackinnon, Karin Pukk-Härenstam, Christopher S. Kennedy, Erik Hollnagel, David Slater

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVES: With ever increasingly complex healthcare settings, technology enhanced simulation (TES) is well positioned to explore all perspectives to enhance patient safety and patient outcomes. Analysis from a Safety-II stance requires identification of human adjustments in daily work that are key to maintaining safety. The aim of this paper is to describe an approach to explore the consequences of human variability from a Safety-II perspective and describe the added value of this to TES.

METHODS: The reader is guided through a novel application of functional resonance analysis methodology (FRAM), a method to analyse how a system or activity is affected …


Assessing Health-Related Quality Of Life, Morbidity, And Survival Status For Individuals With Down Syndrome In Pakistan (Ds-Pak): Protocol For A Web-Based Collaborative Registry, Ayat Siddiqui, Laila Akber Cassum, Abdul Momin Kazi, Sidra Kaleem Jafri, Fizza Akbar, Salman Kirmani Jun 2021

Assessing Health-Related Quality Of Life, Morbidity, And Survival Status For Individuals With Down Syndrome In Pakistan (Ds-Pak): Protocol For A Web-Based Collaborative Registry, Ayat Siddiqui, Laila Akber Cassum, Abdul Momin Kazi, Sidra Kaleem Jafri, Fizza Akbar, Salman Kirmani

Department of Paediatrics and Child Health

Background: Down syndrome is the most common chromosomal disorder, with a global incidence of 1 in 700 live births. However, the true prevalence, associated morbidities, and health-related quality of life (HRQOL) of these individuals and their families are not well documented, especially in low- and middle-income countries such as Pakistan. Disease-specific documentation in the form of a collaborative registry is required to better understand this condition and the associated health outcomes. This protocol paper describes the aims and processes for developing the first comprehensive, web-based collaborative registry for Down syndrome in a Pakistani cohort.
Objective: This study aims to assess …


Transient Leukopenia, Thrombocytopenia, And Severe Neutropenia Associated With Acute Sars-Cov-2 Infection, Austin Schatzman, Julia Vandenheuvel Md, Tibisay Villalobos Md, Kris Rooney Md Jun 2021

Transient Leukopenia, Thrombocytopenia, And Severe Neutropenia Associated With Acute Sars-Cov-2 Infection, Austin Schatzman, Julia Vandenheuvel Md, Tibisay Villalobos Md, Kris Rooney Md

Department of Pediatrics

No abstract provided.


Ischemic Volkmann Contracture From Intrauterine Compartment Syndrome, Julia Vandenheuvel Md, Robert Teixeira Md, Ethan Song Ba, Scott Kozin Md, Scott Rice Md Jun 2021

Ischemic Volkmann Contracture From Intrauterine Compartment Syndrome, Julia Vandenheuvel Md, Robert Teixeira Md, Ethan Song Ba, Scott Kozin Md, Scott Rice Md

Department of Pediatrics

No abstract provided.


Getting Back On Track With Cancer Prevention And Adolescent Immunizations, Sharon Humiston Jun 2021

Getting Back On Track With Cancer Prevention And Adolescent Immunizations, Sharon Humiston

Presentations

Objectives:

1.Explain why HPV vaccine is important enough to be routinely recommended for young people (i.e., HPV cancer prevention).

2. Give an HPV vaccination recommendation that is effective and succinct using the same way, same day approach to the introduction of HPV vaccine.

3. Answer the most frequently asked questions about HPV vaccine accurately and succinctly.


Neurosurgical Shunts, Trouble Shooting For Malfunction, Children's Mercy Kansas City Jun 2021

Neurosurgical Shunts, Trouble Shooting For Malfunction, Children's Mercy Kansas City

Clinical Pathways (Formally Known As Care Process Models)

No abstract provided.


Neurosurgical Shunts, Trouble Shooting For Infection, Children's Mercy Kansas City Jun 2021

Neurosurgical Shunts, Trouble Shooting For Infection, Children's Mercy Kansas City

Clinical Pathways (Formally Known As Care Process Models)

No abstract provided.


Examining The Correlates Of Adolescent Food And Nutrition Knowledge, Rachel Brown, Jamie A. Seabrook, Saverio Stranges, Andrew F. Clark, Jess Haines, Colleen O’Connor, Sean Doherty, Jason A. Gilliland Jun 2021

Examining The Correlates Of Adolescent Food And Nutrition Knowledge, Rachel Brown, Jamie A. Seabrook, Saverio Stranges, Andrew F. Clark, Jess Haines, Colleen O’Connor, Sean Doherty, Jason A. Gilliland

Paediatrics Publications

Food literacy is a set of skills and knowledge that are integral to diet. It is common among teenagers to not have basic food literacy skills needed to consume a healthy diet. This study examined: (1) the current state of food and nutrition knowledge among adolescents 13–19 years of age in the census metropolitan area of London, ON, Canada; and (2) correlates of food knowledge and nutrition knowledge among adolescents. Data for this study were drawn from baseline youth and parent survey data collected from a larger population health intervention study. Statistical analysis of the survey data indicates that higher …


Translating Developmental Origins Of Health And Disease In Practice: Health Care Providers' Perspectives., Monica L Molinaro, Marilyn Evans, Timothy Regnault, Barbra De Vrijer Jun 2021

Translating Developmental Origins Of Health And Disease In Practice: Health Care Providers' Perspectives., Monica L Molinaro, Marilyn Evans, Timothy Regnault, Barbra De Vrijer

Paediatrics Publications

Currently, there is limited knowledge on how health care providers perceive and understand the Developmental Origins of Health and Disease (DOHaD), which may impact how they inform patients and their families throughout the perinatal period. This qualitative descriptive study explored if and how health care providers counsel on in utero programming and future health outcomes with parents, both preconception and during pregnancy. One-on-one, semi-structured interviews were conducted with 23 health care providers from varying health disciplines including obstetrics and gynaecology, midwifery, paediatrics, endocrinology and internal medicine. Audiotaped interviews were transcribed verbatim and analysed using inductive thematic analysis. Three themes were …


Outpatient Antibiotic Handbook, Children's Mercy Kansas City Jun 2021

Outpatient Antibiotic Handbook, Children's Mercy Kansas City

Clinical Pathways (Formally Known As Care Process Models)

No abstract provided.


Transient Tricuspid Valvulitis: Another Brief Casualty Of Covid-19 In Children, Amulya Buddhavarapu, Girish S. Shirali, Stephen Kaine, Doaa Aly Jun 2021

Transient Tricuspid Valvulitis: Another Brief Casualty Of Covid-19 In Children, Amulya Buddhavarapu, Girish S. Shirali, Stephen Kaine, Doaa Aly

Posters

Clinical Presentation:

We discuss 3 patients, 8-10 years old, with significant tricuspid valve dysfunction during initial days of admission for multi-system inflammatory syndrome in children (MIS-C) associated with coronavirus 2019 (COVID-19) infection.

All 3 patients had COVID antibodies and presented in uncompensated shock needing aggressive fluid resuscitation and vasoactive support. Elevated acute inflammatory markers, acute kidney injury (2/3 patients), troponin leak and repolarization abnormality on ECG were present on admission and resolved by discharge. All were treated with intravenous immunoglobulin (IVIG) infusion, high-dose steroids and prophylactic low molecular weight heparin. They were discharged home on aspirin and steroid taper.

All …


Challenges In Echocardiographic Diagnosis Of Corrected Malposition Of Great Arteries: The Segmental Approach Coming Handy, Amulya Buddhavarapu, Anmol Goyal, Sanket Shah, Nitin Madan, Hayley S. Hancock, Maria Kiaffas Jun 2021

Challenges In Echocardiographic Diagnosis Of Corrected Malposition Of Great Arteries: The Segmental Approach Coming Handy, Amulya Buddhavarapu, Anmol Goyal, Sanket Shah, Nitin Madan, Hayley S. Hancock, Maria Kiaffas

Posters

Clinical Presentation

Two cases of {S,D,L} anatomically corrected malposition of great arteries (ACMGA) are presented with differences in conal anatomy. Case 1: A fetal echocardiogram (echo) performed at 28 weeks gestation due to multiple anomalies revealed atrial situs solitus, D-loop ventricles, a large conoventricular septal defect (VSD) and an overriding, anterior and leftward aorta. The diagnosis of double outlet right ventricle (DORV) vs ACGMA was entertained. Postnatal echo revealed {S,D,L} segmental anatomy with ventriculoarterial concordance consistent with ACGMA and a muscular VSD. Case 2: A 3-week-old boy presented to clinic for a murmur evaluation with no associated cardiac symptoms. Transthoracic …


Robotic Gastrotomy And Bezoar Removal In A Six-Year-Old., Lior Kopel, Joshua Volin, Anthony Iacco, Begum Akay, Pavan Brahmamdam Jun 2021

Robotic Gastrotomy And Bezoar Removal In A Six-Year-Old., Lior Kopel, Joshua Volin, Anthony Iacco, Begum Akay, Pavan Brahmamdam

Conference Presentation Abstracts

No abstract provided.


Paediatric Pseudo Papillary Pancreatic Tumour: A Case Based Review, Mir Ibrahim Sajid, Ayesha Saleem, Muhammad Arshad Jun 2021

Paediatric Pseudo Papillary Pancreatic Tumour: A Case Based Review, Mir Ibrahim Sajid, Ayesha Saleem, Muhammad Arshad

Medical College Documents

Solid pseudopapillary neoplasms are rare and represent approximately 4% of all cystic pancreatic tumours, and predominately affect females. They have an excellent prognosis, however 10-15% of the patients show metastasis at the time of surgery or recurrence of tumour during follow-up after pancreatectomy. Surgical resection is the recommended treatment. We present a rare case of a 15-year-old female, with a pseudopapillary tumour of the pancreas which was diagnosed pre-operatively.


Developmental Status Of Young Children In Foster Care, Jill Mcleigh, Cecy Lazcano, Karlyn Tunnell Jun 2021

Developmental Status Of Young Children In Foster Care, Jill Mcleigh, Cecy Lazcano, Karlyn Tunnell

Health Status, Outcomes, and Literacy and Healthcare Utilization

Children in foster care (CFC) may be at higher risk for developmental problems. This study sought to determine (1) the percentage of CFC with developmental problems seen at an integrated primary care clinic and (2) whether the presence of various risk factors was associated with increased odds of developmental problems in general and across developmental domains. This cross-sectional study used the Ages and Stages Questionnaire, Third Edition, demographic, and health-related data retrieved from electronic health records. The study included 796 children aged 1 to 66 months seen at an integrated primary care clinic exclusively serving CFC. Frequencies and percentages of …


Optimization Of School Reintegration For Pediatric Oncology Patients And Their Peers, Savannah Fotheringham, Patrick Karabon, Tracy Wunderlich-Barillas, Janis Traynor, L. Kate Gowans Jun 2021

Optimization Of School Reintegration For Pediatric Oncology Patients And Their Peers, Savannah Fotheringham, Patrick Karabon, Tracy Wunderlich-Barillas, Janis Traynor, L. Kate Gowans

Conference Presentation Abstracts

Improved survival rates of pediatric oncology patients give them the opportunity to return to school. This can present a significant challenge, as returning students often become vulnerable to peer rejection. The objective of this double-arm descriptive study was to establish a framework from which to optimize a school reintegration intervention for the peers of pediatric oncology patients. Ultimately, the study aimed to promote increased knowledge, acceptance by peers, and a smooth transition back to school for childhood cancer survivors. We utilized age-appropriate surveys to evaluate the knowledge and concerns of 3rd to 8th-grade students in Michigan regarding friends with cancer …


Intraoperative Uses Of Near-Infrared Fluorescence Spectroscopy In Pediatric Surgery: A Systematic Review, Heba Alghoul, Farah Al Farajat, Osaid Alser, Andrea Rogers-Snyr, Carroll Harmon, Nathan Novotny Jun 2021

Intraoperative Uses Of Near-Infrared Fluorescence Spectroscopy In Pediatric Surgery: A Systematic Review, Heba Alghoul, Farah Al Farajat, Osaid Alser, Andrea Rogers-Snyr, Carroll Harmon, Nathan Novotny

Conference Presentation Abstracts

No abstract provided.


Esophageal Magnamosis For The Treatment Of Type-B Esophageal Atresia In A Child With Prohibitive Operative Risk: A Novel Device And Indication., Irving J. Zamora, Muhammad Oa Ghani, Lauren L. Evans, Nathan M. Novotny, Lyndy J. Wilcox, Harold N. Lovvorn, Kristina A. Betters, Mohammad Sahlabadi, Matthew R. Lucas, Jeffrey S. Upperman, Oliver J. Muensterer, Michael R. Harrison Jun 2021

Esophageal Magnamosis For The Treatment Of Type-B Esophageal Atresia In A Child With Prohibitive Operative Risk: A Novel Device And Indication., Irving J. Zamora, Muhammad Oa Ghani, Lauren L. Evans, Nathan M. Novotny, Lyndy J. Wilcox, Harold N. Lovvorn, Kristina A. Betters, Mohammad Sahlabadi, Matthew R. Lucas, Jeffrey S. Upperman, Oliver J. Muensterer, Michael R. Harrison

Conference Presentation Abstracts

No abstract provided.


Clinicians’ Perceptions Of Pediatric Assent For Invasive Bedside Procedures At Three Tertiary Referral Hospitals In Nairobi County, Kenya., Grace Petrine Oyito Omondi Jun 2021

Clinicians’ Perceptions Of Pediatric Assent For Invasive Bedside Procedures At Three Tertiary Referral Hospitals In Nairobi County, Kenya., Grace Petrine Oyito Omondi

Master of Medicine in Paediatrics and Child Health

Background: The medical profession is built on the foundation of morals and ethics guided by principles of beneficence, non- maleficence, autonomy and justice. In order for an individual to be sufficiently autonomous, the value of information is indispensable. The information allows the patient to make an informed decision concerning their healthcare. The patient then gives an informed consent or assent as is applicable to the pediatric population. Majority of the studies surrounding pediatric assent revolves around obtaining it for research. There is a paucity of literature in regards to pediatric assent for clinical treatment more so as regards clinicians’ perceptions …


Next-Generation Sequencing In The Diagnosis Of Rare Pediatric Sinonasal Tumors., Atif A. Ahmed, Divya Vundamati, Midhat Farooqi, Elena Repnikova, Timothy Zinkus, Maxine Hetherington, Lorien Paulson Jun 2021

Next-Generation Sequencing In The Diagnosis Of Rare Pediatric Sinonasal Tumors., Atif A. Ahmed, Divya Vundamati, Midhat Farooqi, Elena Repnikova, Timothy Zinkus, Maxine Hetherington, Lorien Paulson

Manuscripts, Articles, Book Chapters and Other Papers

The diagnosis of desmoid fibromatosis or other spindle cell tumors in the sinonasal region is very rare in children and needs to be thoroughly confirmed with immunohistochemical and/or molecular tests. We report 2 patients with such rare tumors and describe the use of next-generation sequencing in their evaluation. A 3-year-old female had a 4.4-cm midline nasal cavity mass involving the bony septum and extending into the base of the skull bilaterally. The moderate cellular fibroblastic proliferation revealed areas of thick keloid-like collagen bands and other areas with myxoid edematous stroma. Deep targeted sequencing identified a novel G34V mutation in the


Covid-19 In Children-Not Just Little Adults., Jennifer E. Schuster, Annabelle De St Maurice Jun 2021

Covid-19 In Children-Not Just Little Adults., Jennifer E. Schuster, Annabelle De St Maurice

Manuscripts, Articles, Book Chapters and Other Papers

Comment on


The Dietary Management Of Potassium In Children With Ckd Stages 2-5 And On Dialysis-Clinical Practice Recommendations From The Pediatric Renal Nutrition Taskforce., An Desloovere, José Renken-Terhaerdt, Jetta Tuokkola, Vanessa Shaw, Larry A. Greenbaum, Dieter Haffner, Caroline Anderson, Christina L. Nelms, Michiel J S Oosterveld, Fabio Paglialonga, Nonnie Polderman, Leila Qizalbash, Bradley A. Warady, Rukshana Shroff, Johan Vande Walle Jun 2021

The Dietary Management Of Potassium In Children With Ckd Stages 2-5 And On Dialysis-Clinical Practice Recommendations From The Pediatric Renal Nutrition Taskforce., An Desloovere, José Renken-Terhaerdt, Jetta Tuokkola, Vanessa Shaw, Larry A. Greenbaum, Dieter Haffner, Caroline Anderson, Christina L. Nelms, Michiel J S Oosterveld, Fabio Paglialonga, Nonnie Polderman, Leila Qizalbash, Bradley A. Warady, Rukshana Shroff, Johan Vande Walle

Manuscripts, Articles, Book Chapters and Other Papers

Dyskalemias are often seen in children with chronic kidney disease (CKD). While hyperkalemia is common, with an increasing prevalence as glomerular filtration rate declines, hypokalemia may also occur, particularly in children with renal tubular disorders and those on intensive dialysis regimens. Dietary assessment and adjustment of potassium intake is critically important in children with CKD as hyperkalemia can be life-threatening. Manipulation of dietary potassium can be challenging as it may affect the intake of other nutrients and reduce palatability. The Pediatric Renal Nutrition Taskforce (PRNT), an international team of pediatric renal dietitians and pediatric nephrologists, has developed clinical practice recommendations …


Correlation Between Strain And Weight Status In Infants With A Univentricular Hear, Amulya Buddhavarapu, Mathew Warren, Lori Erickson, Christopher Mathis, Whitney Haas, Daniel Forsha Jun 2021

Correlation Between Strain And Weight Status In Infants With A Univentricular Hear, Amulya Buddhavarapu, Mathew Warren, Lori Erickson, Christopher Mathis, Whitney Haas, Daniel Forsha

Posters

Background

Infants with univentricular physiology are at risk of poor weight gain and reduced ventricular function, both of which have been independently associated with worse outcomes. Since nutritional status has been correlated to ventricular function in other populations, we evaluated the relationship between nutritional status and ventricular function including speckle-tracking strain during this period.

Methods

Thirty term infants (median age 55 days, 13 females) with univentricular physiology prior to stage II palliation were included with data obtained at the time of their initial hospital discharge. Ventricular function was quantified using 2D global longitudinal strain (GLS) and strain rate, analyzed from …


Clinical Characterization Of Pediatric Gastroparesis Using A Four-Hour Gastric Emptying Scintigraphy Standard, Sharon Wolfson, Zoe Wilhelm, Antone R Opekun, Robert Orth, Robert J Shulman, Bruno P Chumpitazi Jun 2021

Clinical Characterization Of Pediatric Gastroparesis Using A Four-Hour Gastric Emptying Scintigraphy Standard, Sharon Wolfson, Zoe Wilhelm, Antone R Opekun, Robert Orth, Robert J Shulman, Bruno P Chumpitazi

Children’s Nutrition Research Center Staff Publications

Objectives: Four-hour gastric emptying scintigraphy (GES) is the recommended method to identify both adult and childhood gastroparesis (GP). Previous pediatric studies have, however, not used this standard. We sought to determine the characteristics and outcomes of children versus adolescents with GP using the 4-hour GES evaluation.

Methods: We performed a retrospective chart review of pediatric patients diagnosed with GP by 4-hour GES (>10% retention at 4 hours). Demographics, body mass index, GP-related symptoms, comorbidities, etiologies, therapies (eg, medications), healthcare utilization, and response to therapy were captured systematically. Symptoms were compared from the initial versus last gastroenterology visit. Outcomes were …


Clinical, Neuroimaging, And Molecular Spectrum Of Tecpr2-Associated Hereditary Sensory And Autonomic Neuropathy With Intellectual Disability, Sonja Neuser, Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O'Grady, Michael Zech, Siddharth Srivastava, Shahnaz Ibrahim, Fatima Khan Jun 2021

Clinical, Neuroimaging, And Molecular Spectrum Of Tecpr2-Associated Hereditary Sensory And Autonomic Neuropathy With Intellectual Disability, Sonja Neuser, Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O'Grady, Michael Zech, Siddharth Srivastava, Shahnaz Ibrahim, Fatima Khan

Department of Paediatrics and Child Health

Bi-allelic TECPR2 variants have been associated with a complex syndrome with features of both a neurodevelopmental and neurodegenerative disorder. Here, we provide a comprehensive clinical description and variant interpretation framework for this genetic locus. Through international collaboration, we identified 17 individuals from 15 families with bi-allelic TECPR2-variants. We systemically reviewed clinical and molecular data from this cohort and 11 cases previously reported. Phenotypes were standardized using Human Phenotype Ontology terms. A cross-sectional analysis revealed global developmental delay/intellectual disability, muscular hypotonia, ataxia, hyporeflexia, respiratory infections, and central/nocturnal hypopnea as core manifestations. A review of brain magnetic resonance imaging scans demonstrated a …