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

The Impact Of Vitamin Supplementation (D, B12, B9) On Behaviors Associated With Autism Spectrum Disorder, Rohan Mehra

Rowan-Virtua Research Day

Background: One in 36 children in the United States are diagnosed with Autism Spectrum Disorder (ASD). Although heritability of the condition ranges from 40 to 80%, other factors such as vitamin levels, may have a significant impact on the risk of development. These vitamins include D, B12, and B9.

Purpose: To assess the impact vitamin supplementation has on behaviors associated with ASD, and to determine which specific aspects of ASD may be improved with vitamin supplementation.

Methods: A literature review was performed. The search was utilized PubMed, JSTOR and Web of Science. Keyword strings included: “Vitamin D B12 B9 folate …

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 …

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 …

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 …

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 …

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.

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 …

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 …

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 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 …

Inhibition Of Tnf-Alpha Decreases Microglia Activation In Rats Neonatally Treated With Poly I:C, Heath W. Shelton, Russell W. Brown

Appalachian Student Research Forum

Introduction: Current medical treatment for individuals diagnosed with schizophrenia (SCHZ) primarily relies on the inhibition of the dopamine D₂ receptor that has been shown to be supersensitive in these patients. Treatment occurs through the use of antipsychotic medication which leads to a number of debilitating dose-dependent side effects, such as weight gain, agranulocytosis, and seizures. Patients diagnosed with SCHZ have also been shown to have increased inflammation in their central nervous system (CNS), particularly within specific brain regions such as the prefrontal cortex and hippocampus. This is in large part due to the interaction between a pro-inflammatory cytokine called …

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 Faculty Scholarship

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 …

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 Faculty Scholarship

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. …

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 Faculty Scholarship

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 …

Abnormal Dendritic Maturation Of Developing Cortical Neurons Exposed To Corticotropin Releasing Hormone (Crh): Insights Into Effects Of Prenatal Adversity?, Megan M. Curran, Curt A. Sandman, Elyssia Poggi Davis, Laura M. Glynn, Tallie Z. Baram

Psychology Faculty Articles and Research

Corticotropin releasing hormone (CRH) produced by the hypothalamus initiates the hypothalamic- pituitary-adrenal (HPA) axis, which regulates the body's stress response. CRH levels typically are undetectable in human plasma, but during pregnancy the primate placenta synthesizes and releases large amounts of CRH into both maternal and fetal circulations. Notably, placental CRH synthesis increases in response to maternal stress signals. There is evidence that human fetal exposure to high concentrations of placental CRH is associated with behavioral consequences during infancy and into childhood, however the direct effects on of the peptide on the human brain are unknown. In this study, we used …

Reliability And Validity Of The Hd-Pro-Triadtm, A Health-Related Quality Of Life Measure Designed To Assess The Symptom Triad Of Huntington's Disease., Nicholas R Boileau, Julie C Stout, Janes S Paulsen, David Cella, Michael K Mccormack, Martha A Nance, Samuel Frank, Jin-Shei Lai, Noelle E Carlozzi

Rowan-Virtua School of Osteopathic Medicine Faculty Scholarship

BACKGROUND: Huntington's disease (HD), is a neurodegenerative disorder that is associated with cognitive, behavioral, and motor impairments that diminish health related quality of life (HRQOL). The HD-PRO-TRIADTM is a quality of life measure that assesses health concerns specific to individuals with HD. Preliminary psychometric characterization was limited to a convenience sample of HD participants who completed measures at home so clinician-ratings were unavailable.

OBJECTIVES: The current study evaluates the reliability and validity of the HD-PRO-TRIADTM in a well-characterized sample of individuals with HD.

METHODS: Four-hundred and eighty-two individuals with HD (n = 192 prodromal, n = 193 early, and n …

Functional Characterization Of Rai1 In Zebrafish, Joshua S. Beach

Theses and Dissertations

Smith-Magenis Syndrome (SMS; OMIM #182290) is a multiple congenital abnormality and intellectual disability (ID) disorder caused by either an interstitial deletion of the 17p11.2 region containing the retinoic acid induced-1 (RAI1) gene or a mutation of the RAI1 gene. Individuals diagnosed with SMS typically present characteristics such as ID, self-injurious behavior, sleep disturbance, ocular and otolaryngological abnormalities, craniofacial and skeletal abnormalities, neurological and behavioral abnormalities, as well as other systemic defects and manifestations. Previous work by Vyas in 2009 showed temporal expression of rai1 in zebrafish embryos as early as 9 hpf. We hypothesize that there is maternal …

A Comparison Of Parenting Dimensions Between Mothers Of Children With Down Syndrome And Mothers Of Typically Developing Children, B. Allyson Phillips

Books and Monographs

The purpose of the current study was to compare the parenting styles and dimensions in mothers of children with Down syndrome and mothers of typically developing children. Effective parenting is vital for a child’s intellectual, physical, social, and emotional development, and not all parenting techniques are equal in their effectiveness in raising a healthy, well-adjusted child. We expected that parents of children with Down syndrome would display more negative parenting techniques than parents of typically developing children because of their decreased parental well-being and increased caregiving demands.

The sample was comprised of 35 mothers of children with Down syndrome and …

Fas Behavioral Survey Of Traits: Screening For Effects Of Prenatal Exposure To Alcohol, Glena Andrews, C. Joe Robins

Faculty Publications - Doctor of Psychology (PsyD) Program

The FAS BeST was developed by parents and educators of children with Fetal Alcohol Syndrome rating behaviors characteristic of FASD including; easily influenced by others, difficulty learning from experience, appearing and declaring innocence even when confronted with evidence to the contrary, and experiencing difficulties in other domains. The FAS BeST differentiates between children with PEA, dysgenesis of the corpus callosum (DCC), and attention deficit hyperactivity disorder (ADHD; Porter & Andrews, 2004). The sample included 294 participants. Using the cutoff score suggested by Porter and Andrews (2004) the accuracy rates were 78% for FAS/E, 100% for controls, 85% for DCC, and …