Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons^™

Criterion Validity Of The Functional Status And Pain Assessment Scale Versus Pain And Length Of Stay In Hospitalized Adults With Scd, Wally R. Smith, Daniel M. Sop, Yue May Zhang, Margaret S. Guy, Rehan Qayyum

Department of Medicine Faculty Publications

Objectives

In prior research we demonstrated face, construct, discriminant, and preliminary convergent validity of the newly developed, 10-item Functional Status Pain Assessment (FSPA) scale (0-50) in adult SCD patients hospitalized with VOC. We aimed in this study to further demonstrate criterion validity of the FSPA.

Methods

This was a prospective observational study of 561 daily functional and pain assessments from 91 hospitalized adults with SCD from January 2018 to June of 2019. Principal Component Analysis (PCA) Partial Least Squares (PLS) models determined the relationship between LOS, pain intensity, and FSPA. A Generalized Linear Model (GLM) to quantified the impact of …

Assessing Access To Orthopaedic Care For Patients With Osteogenesis Imperfecta, Annemarie K. Leonard, Kara Ayers, Lauren Faokunla, Kaeli Samson, Erika Carter, Tracy Hart, Maegen Wallace

Graduate Medical Education Research Journal

Background. Osteogenesis Imperfecta (OI) is a rare disorder caused by variations in collagen. Clinical manifestations include multiple fractures, short stature, scoliosis, blue sclera, hearing loss, and opalescent teeth. Patients often need many different medical providers frequently, which may place financial burdens on families. This study sought to identify and understand barriers to care for children with OI.

Methods. We utilized an Institutional Review Board (IRB)-approved survey for primary caregivers of children with OI. Questions included demographic data, type of health insurance, history of and reasons for insurance denials, access to multidisciplinary OI care, and travel to receive OI care. The …

Debunking Myths: Sickle Cell Trait, Crises & Sudden Death, Michael R. Debaun, Corey J. Hebert, Yvette Marie Miller

School of Medicine Faculty Publications

No abstract provided.

The Impact Of Nicu Death On Bereaved Mothers, Jennie Terranova

University Honors Theses

Infant loss in the United States occurs 5.6 per 1,000 live births. This paper examines risk factors that contribute to neonatal death. Prematurity is a risk factor for NICU admission. A portion of premature babies receiving care in the NICU will die. The stressful nature of the NICU has been studied widely in journals. The impact of NICU death on hospital staff and bereaved parents has been studied less. Mortality studies suggest that bereaved mothers are at a high risk of dying within the first 5 years after their child has died. Despite the frequency of maternal death post-child loss, …

Physiological Indicators Of Social Anxiety In Preschoolers With The Fragile X Premutation, Olivia Cyburt

Senior Theses

The Fragile X premutation (FXpm) is a common genetic disorder often characterized by psychiatric impairments, including anxiety. It results from a trinucleotide repeat expansion (CGG) of 55-200 repeats on the FMR1 gene. Despite its association with psychiatric symptoms, there is limited research regarding the relationship between FXpm and anxiety, particularly social anxiety. Early detection of social anxiety is essential for timely intervention, yet it remains challenging to identify in young individuals with FXpm due to limited research. The present study aimed to bridge this gap by examining social anxiety in preschoolers with the FXpm, utilizing both a physiological and behavioral …

Poland Syndrome And The Sensorimotor Cortex: An Untapped Possibility For Research, Ace Laikind

Scholarly Horizons: University of Minnesota, Morris Undergraduate Journal

Poland syndrome is a rare disorder that unilaterally affects the chest, arms, and hands. Despite being a limb disorder, there has not been research done on how Poland syndrome interacts with the sensorimotor cortex. Other limb disorders have documented connections to the sensorimotor cortex, and can be used to infer how Poland syndrome affects the sensorimotor cortex. Limb disorders with extensive research on the sensorimotor cortex are phantom limb syndrome, focal hand dystonia, and congenital one-handedness. Additionally, to accommodate for the confound created by the differences between congenital and acquired conditions, blindness and its effects on plasticity can be examined. …

Inclusion Of Adoption As A Pregnancy Management Option In Prenatal Genetic Counseling Practice, Emma Billings

Dissertations and Theses (Open Access)

Prenatal genetic counselors are essential to providing education, psychosocial support, and guidance on pregnancy options to patients who receive a fetal diagnosis of an anomaly or genetic condition. Therefore, genetic counselors should be well-educated on comprehensive pregnancy management options consisting of parenting, abortion, and adoption. The landscape of adoption education in genetic counseling practice was last characterized in 2010 by Perry and Henry, revealing substantial variability in both the inclusion of adoption-specific education in genetic counseling program (GCP) curricula and the discussion of pregnancy options with patients in prenatal practice. As a result, the authors published a call to action …

Best Screening: Introducing The Neonatal Assessment Visual European Grid To Nicus In Tennessee, Gabrielle Sledge

OTD Capstone Projects

Blind Early Services Tennessee (BEST) is an early intervention agency that serves children ages 0-5 with visual impairments across Tennessee. BEST serves over 200 children and families across the state offering early intervention (BEST Start), parent empowerment (BEST Advocate), and family support (BEST Together) programming. The purpose of this project was to assist in the implementation of an early identification initiative (BEST Screening) using the Neonatal Assessment Visual European Grid (NAVEG). The NAVEG is a newborn vision screening shown to identify neurological risk for visual impairments. The long-term goal of this program is to promote the screening and early identification …

Incorporating Poi As A Therapeutic Modality For Preschool Aged Children In The Care Clinic, Danielle Zirkle

Department of Occupational Therapy Entry-Level Capstone Projects

No abstract provided.

Inflammatory Marker Levels Among Patients Diagnosed With Autism Spectrum Disorder And Congenital Heart Defects, Patrick Pearce, Venkateswar Venkataraman, Andrea Iannuzzelli, Jennifer Lecomte

Rowan-Virtua Research Day

Autism Spectrum Disorder (ASD) and congenital heart defects (CHD) are conditions that both confer an immense increase in standard of care, and utilization of medical resources addressing comorbidities. One shared symptom that has been consistently cited is inflammation. This review sought to explore the levels of Tumor Necrosis Factor-�� (TNF-��) and Interleukin-6 (IL-6) between patients diagnosed as having either ASD or CHD. By compiling published data containing the mean values of these two inflammatory markers within these populations, it was shown that while both have significantly elevated levels compared to a phenotypically normal demographic, there is no significant difference between …

Treatment Anxiety Education For Pediatric Cardiac Neurodevelopmental Patients, An Evidence Based Project, Mary Nagel

Doctor of Nursing Practice Final Manuscripts

Abstract

Background

Congenital heart disease (CHD) is the most common birth defect and affects almost 1% of all live births. Treatment anxiety is common among children with CHD who undergo multiple procedures early in their lifetime. Dramatically increased life spans for this cardiac population has led to a shift from focusing on survival to their long-term health outcomes.

Methods:

Administration of the Peds QL Cardiac Module 3.0 assesses health related quality of life (HRQOL) during annual visits to a Cardiac Neurodevelopmental (ND) Clinic by evaluating the level of Treatment Anxiety a patient experiences during healthcare appointments. The questionnaire scores are …

Exploring Tactile Art-Making With Deafblind Students And Their Families: An Opportunity For Creative Play, Alice Rodgers

Expressive Therapies Capstone Theses

The impact of a deafblind diagnosis on an individual’s mental health and the well-being of the family involved can be profound. However, current research and available literature for the mental health treatment and therapy practices of deafblind persons and their families is limited (Kyzar et al., 2016; “WFDB Global Report 2018,” n.d.). This thesis used the Leeds Family Psychology and Therapy Service principles (Leeds FPTS) and the Expressive Therapies Continuum with established deafblind teaching strategies to facilitate an original arts-based community project entitled: “Things We Like.” This project provided an opportunity for deafblind students (ages three to 22) and their …

Ethnic Differences In Maternal Cytokines And Adipokines And Their Association With Spontaneous Preterm Delivery, Yelizavet D. Lomakova, Xinhua Chen

Rowan-Virtua Research Day

Spontaneous preterm delivery (SPTD, birth at <37 weeks’ gestation) is a leading cause of infant mortality in the United States [1]. Infants born prematurely are more likely to suffer from both short and long-term complications including neurodevelopmental delay, visual and hearing impairment, and chronic diseases such as heart disease, hypertension and diabetes in later life [2-4]. African American women have a 2-fold increased risk of preterm delivery compared to Caucasian women [5].The reasons for this disparity are poorly understood. This limits the ability to predict and prevent preterm delivery in the most high-risk populations.

Prevalence Of Common Disease Conditions In A Large Cohort Of Individuals With Down Syndrome In The United States, Brian Chicoine, Anne Rivelli, Veronica Fitzpatrick, Laura Chicoine, Gengjie Jia, Andrey Rzhetsky

Journal of Patient-Centered Research and Reviews

Purpose: Given the current life expectancy and number of individuals living with Down syndrome (DS), it is important to learn common occurrences of disease conditions across the developmental lifespan. This study analyzed data from a large cohort of individuals with DS in an effort to better understand these disease conditions, inform future screening practices, tailor medical care guidelines, and improve utilization of health care resources.

Methods: This retrospective, descriptive study incorporated up to 28 years of data, compiled from 6078 individuals with DS and 30,326 controls matched on age and sex. Data were abstracted from electronic medical records within a …

Dnp Final Report: Breaking The Cycle: Care Coordination Interventions And Sickle Cell Readmissions, Naphtali Edge

DNP Final Reports

Background

Approximately 100,000 people in the United States are affected by Sickle Cell Disease (SCD). Sickle Cell Disease represents the second highest readmitting diagnosis at Houston Methodist Hospital. The purpose of this study is to determine the impact of implementing care coordination interventions to reduce hospital readmissions of patients with SCD.

PICOT

In adult patients with SCD in the acute care hospital setting, how does care coordination intervention compared to no care coordination intervention affect the readmission rate for patients with SCD over a 3 – 6-month period?

Body of Evidence

Eleven studies were critical appraised and included in the …

Maternal Proximity To Mountaintop Removal Mining And Birth Defects In Appalachian Kentucky, 1997-2003, Daniel B. Cooper

Theses and Dissertations--Public Health (M.P.H. & Dr.P.H.)

Background: Extraction of coal through mountaintop removal mining (MTR) alters many dimensions of the landscape, and explosive blasts, exposed rock, and coal washing have the potential to pollute air and water with substances known to increase risk of developmental and birth anomalies. Previous research suggests that infants born to mothers living in MTR coal mining counties have higher prevalence of most types of birth defects.

Objectives: This study seeks to examine further the relationship between MTR activity and birth defects by employing individual level exposure estimation through precise satellite data of MTR activity in the Appalachian region and maternal residence …

Cornelia De Lange Syndrome Research From 1953 To 2020: A Bibliometric Analysis, Dr. Mirza Muhammad Naseer, Dr. Abu Waris

Library Philosophy and Practice (e-journal)

The present study was conducted to explore various aspects of Cornelia de Lange Syndrome (CdLS) research publications including annual scientific productivity, top contributing authors and their impact, top contributing countries and organizations, most relevant sources of publication, highly cited documents, and most frequently used words. Bibliometric methods were used to investigate these aspects of CdLS research publications. Results of the study disclosed that the annual scientific productivity of CdLS literature is increasing gradually with the passage of time. A. Selicorni contributed the highest number of publications (45) to CdLS literature while I. D. Krantz had the highest impact in the …

Polysubstance Exposure And Its Relationship To Pharmacological Treatment Characteristics, Parker Miller

Undergraduate Honors Theses

Neonatal Abstinence Syndrome (NAS) remains an ever-growing public health issue and a continued avenue for future research. The research question for this retrospective study was whether polysubstance exposure is related to the dose of medication the infant received or to the number of opioid-medications required to treat the infants’ withdrawal symptoms? The hypothesis for the retrospective study was there will be a significant relationship between polysubstance exposure and the dose of medication the infant received as well as the number of opioid-medications required to treat the infants’ withdrawal symptoms. A bivariate correlational indicated that there was not a significant association …

Is It Fair To Compare? A Patient And Family Experience Of Two Healthcare Systems And Neurosurgical Teams Within A Two-Week Period, Laura Miller Cpxp

Patient Experience Journal

As the mother of a 28-year-old son with cerebral palsy and hydrocephalus, and as a healthcare consultant focused on patient experience and professional development, I have a unique perspective and skill set. Recently he experienced symptoms that included an excruciating headache, neck pain and lethargy. Fearing his ventriculoperitoneal shunt had malfunctioned, he went to the emergency room and was later admitted on the neuro inpatient floor for a three-day hospitalization. His original shunt had been placed in 1991, and he never had an issue with until August 2018. While in the hospital, he was informed that he was no longer …

Treatment Patterns And Economic Burden Of Sickle-Cell Disease Patients Prescribed Hydroxyurea: A Retrospective Claims-Based Study, Nirmish Shah, Menaka Bhor, Lin Xie, Rashid Halloway, Steve Arcona, Jincy Paulose, Huseyin Yuce

Publications and Research

Background: This study aimed to evaluate sickle-cell disease (SCD) treatment patterns and economic burden among patients prescribed hydroxyurea (HU) in the US, through claims data.

Methods: SCD patients with pharmacy claims for HU were selected from the Medicaid Analytic Extracts (MAX) from January 1, 2009 - December 31, 2013. The first HU prescription during the identification period was defined as the index date and patients were required to have had continuous medical and pharmacy benefits for ≥6 months baseline and 12 months follow-up periods. Patient demographics, clinical characteristics, treatment patterns, health care utilization, and costs were examined, and variables were …

A Multifaceted Approach To Improve Quarterly Visit Rates At A Pediatric Cystic Fibrosis Care Center, Paula Capel, Jessica Banks, Micaela Mckenna, Ashley Andrews, Christopher M. Oermann

Posters

Standard quality improvement methodology was used to improve quarterly visit rates among cystic fibrosis patients at Children's Mercy Kansas City Cystic Fibrosis Center.

• A family-centered, team-based approach was adopted
• A change in culture led to sustained improvement

Improved quarterly visit rates should drive improvement in outcomes including pulmonary function and nutritional status.

Neverland: A Critical Autoethnography Of Aging With Cystic Fibrosis, Alexandra Ch Nowakowski

The Qualitative Report

In this autoethnography, I analyze stereotypes and misconceptions about people with cystic fibrosis (CF). I examine these illness representations and their social underpinnings through critical analysis of my journey to conclusive diagnosis with CF after first being tested for the disease in early life, and the events that have followed from that turning point. Using experiential data and prior research, I explore and refute harmful misconceptions about life with CF. I challenge the notion that people with CF never grow old. I also contest the idea that people who receive conclusive diagnoses during adulthood only then transition into patient identities. …

The Impact Of Cleft Lip/Palate And Clp Surgical Intervention On The Social Integration Of Adolescents In India, Mustafa Zahid

Master's Theses

Cleft Lip/Palate, a congenital orofacial anomaly, carries an incidence rate of approximately 1 in every 1000 births. In addition to the stigma associated with the condition, the varying levels of cleft severity might result in lower life outcomes which could include lower cognitive ability, physical and psychological well-being, social and behavioral outcomes of adolescents. This paper focuses on the social integration element of life outcomes, which is composed of the social inclusion and prosocial behavior of the adolescent. Despite the affordability of restorative surgeries, patients in rural areas of Low and Middle-Income Countries (LMICs) such as India face accessibility and …

The Effects Of Two Novel Anti-Inflammatory Compounds On Prepulse Inhibition And Neural Microglia Cell Activation In A Rodent Model Of Schizophrenia, Heath W. Shelton

Electronic Theses and Dissertations

Recent studies have shown elevated neuroinflammation in a large subset of individuals diagnosed with schizophrenia. A pro-inflammatory cytokine, tumor necrosis factor-alpha (TNFα), has been directly linked to this neuroinflammation. This study examined the effects of two TNFα modulators (PD2024 and PD340) produced by our collaborators at P2D Bioscience, Inc., to alleviate auditory sensorimotor gating deficits and reduce microglial cell activation present in the polyinosinic:polycytidylic (Poly I:C) rodent model of schizophrenia. Auditory sensorimotor gating was assessed using prepulse inhibition and microglial activation was examined and quantified using immunohistochemistry and confocal microscopy, respectively. Both PD2024 and PD340 alleviated auditory sensorimotor gating deficits …

Congenital Chagas Disease In The United States: Cost Savings Through Maternal Screening, Eileen Stillwaggon, Victoria Perez-Zetune, Stephanie R. Bialek, Susan P. Montgomery

Economics Faculty Publications

Chagas disease, caused by Trypanosoma cruzi, is transmitted by insect vectors through transfusions, transplants, insect feces in food, and from mother to child during gestation. Congenital infection could perpetuate Chagas disease indefinitely, even in countries without vector transmission. An estimated 30% of infected persons will develop lifelong, potentially fatal, cardiac or digestive complications. Treatment of infants with benznidazole is highly efficacious in eliminating infection. This work evaluates the costs of maternal screening and infant testing and treatment of Chagas disease in the United States. We constructed a decision-analytic model to find the lower cost option, comparing costs of testing and …

Relationships Among Apathy, Health-Related Quality Of Life, And Function In Huntington's Disease., Nora E Fritz, Nicholas R Boileau, Julie C Stout, Rebecca Ready, Joel S Perlmutter, Jane S Paulsen, Kimberly Quaid, Stacey Barton, Michael K Mccormack, Susan L Perlman, Noelle E Carlozzi

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Up to 90% of individuals with Huntington's disease (HD)-a progressive, inherited neurodegenerative disorder-experience apathy. Apathy is particularly debilitating because it is marked by a reduction in goal-directed behaviors, including self-care, social interactions, and mobility. The objective of this study was to examine relationships between variables of apathy, functional status, physical function, cognitive function, behavioral status/emotional function, and health-related quality of life. Clinician-rated measures of physical, cognitive, and behavioral function, including one clinician-rated item on apathy, and self-reported measures of physical function, health-related quality of life, and emotional, cognitive, and social function were collected in a single session from 487 persons …

A New Measure For End Of Life Planning, Preparation, And Preferences In Huntington Disease: Hdqlife End Of Life Planning, Noelle E Carlozzi, E A Hahn, S A Frank, J S Perlmutter, N D Downing, M K Mccormack, S Barton, M A Nance, S G Schilling, Hdqlife Site Investigators And Coordinators

Rowan-Virtua School of Osteopathic Medicine Departmental Research

BACKGROUND: Huntington disease is a fatal inherited neurodegenerative disease. Because the end result of Huntington disease is death due to Huntington disease-related causes, there is a need for better understanding and caring for individuals at their end of life.

AIM: The purpose of this study was to develop a new measure to evaluate end of life planning.

DESIGN: We conducted qualitative focus groups, solicited expert input, and completed a literature review to develop a 16-item measure to evaluate important aspects of end of life planning for Huntington disease. Item response theory and differential item functioning analyses were utilized to examine …

Possible Breakdown Of Dopamine Receptor Synergism In A Mouse Model Of Huntington's Disease, Samantha F. Kennedy

LSU New Orleans Theses and Dissertations

The model of basal ganglia function proposed by Albin, Young and Penney (1989) describes two anatomically independent motor pathways, the direct and indirect. However, under normal conditions striatal dopamine (DA) is required for the expression of motor behavior, and DAergic control of the two pathways (via D1 and D2 receptors, respectively) is dependent on co-activation. We tested for a possible breakdown of D1/D2 synergism using transgenic R6/1 mice bearing the human huntingtin allele (Htt). Motor stereotypy, observed prior to the onset of HD-related symptoms, was rated on a 5-point scale following activation of: A) D1 receptors alone, B) D2 receptors …

Alternative Interventions For Children Coping With Chronic Conditions: A Critical Review Of The Literature, Nina M. Pelsi, Kim S. Amer

DePaul Discoveries

Reduction of stressors and anxiety levels in adolescents with chronic illnesses is a critical concept in pediatric health care in America today. The many stressors associated with chronic illness include displaying physical and mental differences, social stigma, financial difficulty, and family stress. These stressors may affect the adolescent’s ability to learn and cope in everyday life. The current research was a critical review of the literature examining studies done with adolescents coping with chronic diseases and illnesses. The aim was to analyze the most efficacious non-pharmacological methods for reducing stressors in adolescents with chronic illness. A critical review of the …

Zika 2016: A 3-Phase Longitudinal Study Of The Media Impact On Public Attitudes And Behavioral Response Characteristics, Karly Kownslar

Electronic Theses & Dissertations

Using the Extended Parallel Processing Model (EPPM) as a theoretical framework, the present 3-phase longitudinal study examines the impact of media exposure to Zika information on public perception of the threat severity, personal susceptibility, and behavioral intentions toward the threat of Zika virus between May and November of 2016. A total of 826 participants took an online survey throughout three phases, roughly one month apart. Participants were recruited using Amazon Mechanical Turk and TurkPrime. Measured EPPM concepts include: perceived severity, susceptibility, self- efficacy, response-efficacy, third-person effects, combined with behavioral intentions. Participants also selected the sources from which they …