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

Designing For Difference: A Systems Approach To Sensory-Adaptive Care In The Emergency Department, James Espinosa, Alan Lucerna, Henry Schuitema

Rowan-Virtua Research Day

Children with genetic syndromes and other neurodevelopmental conditions frequently present to the Emergency Department (ED) with sensory vulnerabilities that complicate evaluation and treatment in high-stimulus environments. While experienced clinicians often adapt instinctively to meet these needs, such adaptations may be inconsistently applied and may also be highly individual provider dependent. We present a case involving a child with a genetic syndrome affecting auditory and visual systems to illustrate how small environmental, relational, temporal, and cognitive adjustments can prevent escalation and enable routine care delivery without specialized resources.

We propose reframing sensory-adaptive care not as an exceptional accommodation but as a …

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, …

Gut Microbiome And Nutrition Interplay In Regulating And Improving Autism Spectrum Disorder Related Social Symptoms, Irenonsen Juliet Eigbe, Christian Moya Gamboa, Jana Gjini, Jaydeep Mukherjee, Susrut Dube

Rowan-Virtua Research Day

The composition of the gut microbiome has been shown to play a role in the onset of neurological disorders, including Autism Spectrum Disorder(ASD). A small variety of recent research articles identify a possible link between onset and severity of ASD related behaviors and the composition of the gut microbiome. The purpose of this review is to identify gaps in the current understanding of the role that nutrition plays in changing the gut microbiome and subsequently altering the onset and severity of behavioral phenotypes in children with ASD. Inclusion criteria comprises peer-reviewed publications relating to children with autism. Exclusion criteria consists …

Factors Affecting Caregiver Burden In Informal Caregivers Of Patients With Autism Spectrum Disorder, Brian Joseph Mathew, Maduka Gunasinghe, Usmaan Al-Shehab, Samrat Gollapudi, Prince Patel, Maithri Goud

Rowan-Virtua Research Day

Individuals with Autism Spectrum Disorder (ASD) often require lifelong care to meet their daily needs, which is typically provided by informal sources like family members as well as formal caregivers from home health agencies. The persistent stress of raising a child with ASD can potentially lead to parental burnout, highlighting the importance of understanding the struggles faced by these caregivers. Clinicians must prioritize the well-being of both the individuals with ASD and their dedicated caregivers by gaining a comprehensive understanding of the challenges they encounter.

Our research aims to investigate and comprehend the specific challenges faced by caregivers of individuals …

A Literature Review Of Current Treatments For The Hypermobility Subtype Of Ehlers-Danlos Syndrome, John Gericke, Mary Zsolway, Chelsea Reyes, Pooja Patel, Saad Ahmed, Julia Hwang, Venkateswar Venkataraman

Rowan-Virtua Research Day

Purpose: The purpose of this study is to compare pharmacologic intervention, neurocognitive therapy, physical therapy, and orthotics in treating the hypermobility subtype of Ehlers-Danlos Syndrome (hEDS) and determine which has the most positive effect on symptoms.

Introduction: Ehlers-Danlos Syndrome is an inheritable connective tissue disorder which results from a genetic mutation that alters the body’s ability to produce collagen. The most common subtype of Ehlers-Danlos Syndrome is hEDS, which leads to hypermobility and hyperextensibility and can cause frequent joint dislocations.

Methods: A review of literature was performed to compare each treatment based on reported results. The types of studies reviewed …

Trio-Based Gwas Identifies Novel Associations And Subtype-Specific Risk Factors For Cleft Palate, Kelsey Robinson, Trenell J Mosley, Kenneth S Rivera-González, Christopher R Jabbarpour, Sarah W Curtis, Wasiu Lanre Adeyemo, Terri H Beaty, Azeez Butali, Carmen J Buxó, David J Cutler, Michael P Epstein, Lord J J Gowans, Jacqueline T Hecht, Jeffrey C Murray, Gary M Shaw, Lina Moreno Uribe, Seth M Weinberg, Harrison Brand, Mary L Marazita, Robert J Lipinski, Elizabeth J Leslie

Faculty, Staff and Student Publications

Cleft palate (CP) is one of the most common craniofacial birth defects; however, there are relatively few established genetic risk factors associated with its occurrence despite high heritability. Historically, CP has been studied as a single phenotype, although it manifests across a spectrum of defects involving the hard and/or soft palate. We performed a genome-wide association study using transmission disequilibrium tests of 435 case-parent trios to evaluate broad risks for any cleft palate (ACP) (n = 435), and subtype-specific risks for any cleft soft palate (CSP), (n = 259) and any cleft hard palate (CHP) (n = 125). We identified …

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.

Development Of Schizophrenia In A Genetically Predisposed Individual Following Covid-19, Sung Kang, Jonathan Yuh, Timothy Wong

Rowan-Virtua Research Day

We present a patient who is a 56-year-old female with a psychiatric history of anxiety disorder and a medical history of hypercholesterolemia and hyperthyroidism, who was admitted to the hospital after a witnessed seizure at an inpatient psychiatric facility. This patient’s family history is significant for her mother experiencing unspecified psychotic disorder that required psychiatric hospitalization. Our patient was first admitted to the psychiatric hospital after exhibiting worsening paranoid delusions and hallucinations that began several months prior. The patient had reportedly begun locking herself in the restroom and screaming “get out, they’re spying on me”, referring to her next-door neighbors …

Attitudes Toward Personal Health Data Sharing Among People Living With Sickle Cell Disorder, Exemplar For Study Of Rare Disease Populations, Rebecca Baines, Sebastian Stevens, Zainab Garba-Sani, Arunangsu Chatterjee, Daniela Austin, Simon Leigh

Journal of Patient-Centered Research and Reviews

Purpose: Rare conditions are often poorly understood, creating barriers in determining the value treatments can provide. This study explored barriers and facilitators to personal health data sharing among those with one particular group of rare hematologic disorders, ie, sickle cell disorder (SCD) and its variants.

Methods: A single online focus group among those > 18 years of age and living with SCD was conducted. Participants (N = 25) were recruited through a United Kingdom-based SCD charity. Discussions were transcribed verbatim, with data therein analyzed using inductive thematic analysis.

Results: Five primary motivators for sharing health data were identified: improving awareness; knowing …

The Role Of The Nlrp3 Inflammasome In Alzheimer's Disease, Ethan S. Terman

Undergraduate Research Posters

This study examines the consequences of Alzheimer’s in rat and mice test subjects. The goal is to identify the effects of certain NLRP3 inhibiting drugs and to see if there are any noticeable effects in regards to impeding the pathological development of Alzheimer’s disease. The results are visualized by implementing the immunohistochemical process to identify neurodegeneration in the brain and to assess the expression levels of amyloid beta as an indicator of Alzheimer’s pathology. Other tests are also conducted on these transgenic mice to gauge cognitive functioning levels during the onset of their disease, those being behavior tests, but not …

Inotropic Score And Vasoactive Inotropic Score As Predictors Of Outcomes In Congenital Diaphragmatic Hernia: A Single Center Retrospective Study, Srirupa Hari Gopal, Cynthia L Toy, Morcos Hanna, Betul Yilmaz Furtun, Joseph L Hagan, Ahmed A Nassr, Caraciolo J Fernandes, Sundeep Keswani, Sharada H Gowda

Faculty, Staff and Students Publications

BACKGROUND: Neonates with congenital diaphragmatic hernia (CDH) have varying degrees of pulmonary hypoplasia, pulmonary hypertension (PH) and cardiac dysfunction. These neonates frequently require vasoactive support and are at high risk for mortality and morbidity, including prolonged ventilator support, need for extracorporeal membrane oxygenation (ECMO), prolonged length of stay, and need for tracheostomy. However, identifying which infants are at increased risk can be challenging. In this study, we sought to investigate the utility of the inotropic score (IS) and vasoactive inotropic score (VIS) as tools to predict significant clinical outcomes and overall survival in patients with CDH. Additionally, we evaluated the …

An Exploration Of Psychological Trauma And Positive Adaptation In Adults With Congenital Heart Disease During The Covid-19 Pandemic, Liza Morton Dr, Calum Calderwood, Nicola Cogan, Claire Murphy, Evan Nix, Jacek Kolacz Dr

Patient Experience Journal

The growing population of adults with congenital heart disease (CHD) often have lifelong experience of dealing with potentially traumatic health crises and medical uncertainty whilst facing increased vulnerability to post-traumatic stress disorder (PTSD). The COVID-19 pandemic presents additional challenges for this population including increased risk of health complications, shielding and strict social distancing, changes to medical care provision and social stigma. Despite such challenges, adults with CHD have the potential to also experience positive changes, yet little is known as to what helps cultivate positive adaptation and post-traumatic growth (PTG) within this context. The current study comprised a cross-sectional, anonymous, …

Alzheimer's And Patient Caregiver Burnout: A Review Of The Literature, Madeline Hekeler

James Madison Undergraduate Research Journal (JMURJ)

The term “silent epidemic” is fitting for Alzheimer’s disease (AD), as its negative impact is widely felt but rarely discussed. Burnout among AD caregivers has become an epidemic of its own as caregivers experience an increase in health risks, stress, and financial burden. This literature review focuses on caregiver burnout and how imperative it is that caregivers are better supported in their role. Researchers have developed instruments to assess and intervene in caregiver burnout that have shown effectiveness among caregivers and their families.Nevertheless, further longitudinal research is warranted regarding more effective interventions, including stress management and social support mechanisms.

A Fond Farewell, Dennis J. Baumgardner

Journal of Patient-Centered Research and Reviews

In this From the Editor introduction to Volume 9, Issue 1, the retiring editor-in-chief of Journal of Patient-Centered Research and Reviews recalls the history and initial aims of JPCRR, discusses the contents of articles in the current issue, and says good-bye.

Review Of Fetal Alcohol Spectrum Disorder (Fasd) Among Aboriginal And Torres Strait Islander People, Sharynne Hamilton, Michael Doyle, Carol Bower

Australian Indigenous HealthBulletin

Fetal Alcohol Spectrum Disorder (FASD) is a preventable, lifelong disability that disproportionately affects Aboriginal and Torres Strait Islander people. This review provides a comprehensive synthesis of the available information on FASD among Aboriginal and Torres Strait Islander people, with reference to the limitations on population-based data and evaluated programs. The review outlines; the harms of alcohol use in the context of colonisation, cultural perspectives on assessment and diagnosis, effective prevention programs and a summary of state and national policies. Health impacts, educational outcomes and the effects of FASD on vulnerable populations such as children in protection and young people in …

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 …

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 …

Schizophrenia And Genomics, Tiffini Lasch

Nursing Student Class Projects (Formerly MSN)

There are several advancements in genomics under specific categories, such as cancer and autism. Mental health is one of the leading diseases to cause a significant debt burden in today's society. However, genomics has not translated well into mental health treatment. One area of focus is schizophrenia. Those with schizophrenia suffer from severe and devastating symptoms. The symptoms can lead to harsh complications. Which can make it impossible to function in everyday life. Many believe it is not just genetics alone, but also environmental factors that contribute to schizophrenia. Through large genome-wide associated studies, discoveries are being made. There have …

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 …

Challenges Of Pediatric Disease In Adulthood, Dennis J. Baumgardner, Brian Chicoine

Journal of Patient-Centered Research and Reviews

Some chronic diseases — such as the rare bone disease X-linked hypophosphatemia, the impetus for a study reported within Volume 7, Issue 2 of the Journal of Patient-Centered Research and Reviews — are diagnosed in childhood but become more symptomatic in adulthood. In this editorial, the challenges, pitfalls, and opportunities regarding the care of adults with childhood-onset chronic diseases are examined using Down syndrome, cystic fibrosis, congenital heart disease, and Hirschsprung disease as examples.

Social Isolation Among Families Caring For Children With Disabilities, Dennis J. Baumgardner

Journal of Patient-Centered Research and Reviews

In this issue introduction, the editor-in-chief of Journal of Patient-Centered Research and Reviews comments on the social isolation experienced by families that include children with significant disabilities.

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 …

Agreement Between Clinician-Rated Versus Patient-Reported Outcomes In Huntington Disease, Noelle E Carlozzi, Nicholas R Boileau, Joel S Perlmutter, Kelvin L Chou, Julie C Stout, Jane S Paulsen, Michael K Mccormack, David Cella, Martha A Nance, Jin-Shei Lai, Praveen Dayalu

Rowan-Virtua School of Osteopathic Medicine Departmental Research

BACKGROUND: Clinician-rated measures of functioning are often used as primary endpoints in clinical trials and other behavioral research in Huntington disease. As study costs for clinician-rated assessments are not always feasible, there is a question of whether patient self-report of commonly used clinician-rated measures may serve as acceptable alternatives in low risk behavioral trials.

AIM: The purpose of this paper was to determine the level of agreement between self-report and clinician-ratings of commonly used functional assessment measures in Huntington disease.

DESIGN: 486 participants with premanifest or manifest Huntington disease were examined. Total Functional Capacity, Functional Assessment, and Independence Scale assessments …

Psychiatric Impact Of Tuberous Sclerosis Complex And Utilization Of Mental Health Treatment, Kate Mowrey

Dissertations and Theses (Open Access)

Tuberous sclerosis complex (TSC) is a multi-system, neurocutaneous disorder with neuropsychiatric features known as TSC-associated neuropsychiatric disorders (TAND). While 90% of individuals with TSC have some TAND features, only 20% receive treatment, leading to a 70% treatment gap. This study evaluated perception of disease severity, presence of anxiety and depression, as well as the utilization and barriers towards mental health services among adults with TSC. Disease severity had a moderate and low-moderate association with anxiety and depression, respectively. Regardless of past utilization, respondents had a positive outlook towards the use of mental health services with the major barrier being cost.

Suicidal Ideation Assessment In Individuals With Premanifest And Manifest Huntington Disease., Melissa Wesson, Nicholas R Boileau, Joel S Perlmutter, Jane S Paulsen, Stacey K Barton, Michael K Mccormack, Noelle E Carlozzi

Rowan-Virtua School of Osteopathic Medicine Departmental Research

BACKGROUND: Huntington disease (HD) is associated with increased risk of suicide.

OBJECTIVE: This study compares suicide ideation in HD to the general population, assesses factors associated with increased prevalence of suicidal thoughts, and compares clinician-rated to self-reported assessments of suicidal ideation.

METHODS: We examined 496 participants with premanifest or manifest HD. Clinician-rated suicidal ideation was measured using the Problem Behaviors Assessment - short form. Self-reported ideation was measured using two items from the HDQLIFE Concern with Death and Dying item bank. Independent sample t-tests were conducted to compare the prevalence of suicidal thoughts between our HD sample and the U.S. …

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 …

The Effect Of Breastfeeding And Rooming-In Care On Neonatal Abstinence Syndrome, Rachel Boyer, Lindsay Gal, Mahaylie Cline

Williams Honors College, Honors Research Projects

Concurrent with a rise in opioid abuse during pregnancy is an increase in the number of babies born with Neonatal Abstinence Syndrome (NAS). Despite this crisis, no single treatment has been identified for NAS. This paper sought to analyze and synthesize research evaluating the effectiveness of breastfeeding and rooming-in care on the need and length of pharmacologic treatment and length of hospital stay for neonates with NAS. Twenty-six peer reviewed research articles published between 2006 and 2017 were selected from PubMed and CINAHL for analysis. The studies focused on neonates with NAS born to mothers addicted to opioids or undergoing …

Prenatal Opioid Exposure And Intermittent Hypoxemia In Preterm Infants: A Retrospective Assessment, Elie G. Abu Jawdeh, Philip M. Westgate, Amrita Pant, Audra L. Stacy, Divya Mamilla, Aayush Gabrani, Abhijit R. Patwardhan, Henrietta S. Bada, Peter J. Giannone

Pediatrics Faculty Publications

Introduction: Intermittent hypoxemia (IH) is defined as episodic drops in oxygen saturation (SpO₂). Preterm infants are at increased risk for IH due to their immature respiratory control/apnea of prematurity. The clinical relevance of IH is a relatively new observation with rising evidence linking IH to neonatal morbidities and long-term impairment. Hence, assessing factors that influence IH in preterm infants is imperative. Given the epidemic of opioid misuse in the USA, there is an urgent need to understand the impact of prenatal opioid exposure on neonatal outcomes. Hence, we wanted to assess the relationship between isolated prenatal opioid exposure …

Plasma Brain-Derived Neurotrophic Factor Levels In Newborn Infants With Neonatal Abstinence Syndrome, Lochan Subedi, Hong Huang, Amrita Pant, Philip M. Westgate, Henrietta S. Bada, John A. Bauer, Peter J. Giannone, Thitinart Sithisarn

Pediatrics Faculty Publications

Background: Brain-derived neurotrophic factor (BDNF) is a type of growth factor that promotes growth and survival of neurons. Fetal exposure to opiates can lead to postnatal withdrawal syndrome, which is referred as neonatal abstinence syndrome (NAS). Preclinical and clinical studies have shown an association between opiates exposure and alteration in BDNF expression in the brain and serum levels in adult. However, to date, there are no data available on the effects of opiate exposure on BDNF levels in infant who are exposed to opiates in utero and whether BDNF level may correlate with the severity of NAS.

Objective: To compare …

The Effects Of Perinatal Oxycodone Exposure On Behavioral Outcome In A Rodent Model, Thitinart Sithisarn, Sandra J. Legan, Philip M. Westgate, Melinda E. Wilson, Kristen Wellmann, Henrietta S. Bada, Susan Barron

Pediatrics Faculty Publications

Opiate addiction is now a major public health problem. Perinatal insults and exposure to opiates such as morphine in utero are well known to affect development of the hypothalamic–pituitary–adrenal axis of the offspring adversely and are associated with a higher risk of developing neurobehavioral problems. Oxycodone is now one of the most frequently abused pain killers during pregnancy; however, limited data are available regarding whether and how perinatal oxycodone exposure (POE) alters neurobehavioral outcomes of the offspring. We demonstrated that exposure to 0.5 mg/kg/day oxycodone in utero was associated with hyperactivity in adult rats in an open field. No significant …