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 …

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 …

Encephaloceles: A Comprehensive Exploration Of Research, Causes, Prevention, And Innovative Approaches To Diagnosis And Treatment, Amanda N. Bautista

Mako: NSU Undergraduate Student Journal

Encephaloceles, a rare medical condition derived from Greek words meaning "brain hernia," involve the protrusion of brain tissue, cerebrospinal fluid, or membranes through a defect in the skull. These anomalies often present at birth and can occur in various locations on the skull. Recent research has shed light on the possible causes of encephaloceles, including genetic factors such as the Sonic Hedgehog pathway and inadequate folic acid intake during pregnancy. Folic acid is essential for proper neural tube closure during fetal development, making it a key preventive measure.

Emerging treatments for encephaloceles show promise, with a focus on mesenchymal stem …

Digital Clock Drawing As An Alzheimer's Disease Susceptibility Biomarker: Associations With Genetic Risk Score And Apoe In Older Adults, L I Thompson, M Cummings, S Emrani, David J. Libon, A Ang, C Karjadi, R Au, C Liu

Rowan-Virtua School of Osteopathic Medicine Faculty Scholarship

BACKGROUND: Alzheimer's disease (AD) is the leading cause of dementia in older adults, but most people are not diagnosed until significant neuronal loss has likely occurred along with a decline in cognition. Non-invasive and cost-effective digital biomarkers for AD have the potential to improve early detection.

OBJECTIVE: We examined the validity of DCTclockTM (a digitized clock drawing task) as an AD susceptibility biomarker.

DESIGN: We used two primary independent variables, Apolipoprotein E (APOE) ε4 allele carrier status and polygenic risk score (PRS). We examined APOE and PRS associations with DCTclockTM composite scores as dependent measures.

SETTING: We used existing data …

Mcardle Disease Rhabdomyolysis Precipitated By Acetazolamide For Idiopathic Intracranial Hypertension, Shahin Cyrus Owji, Vivian Paraskevi Douglas, Mohammad Pakravan, Chaow Charoenkijkajorn, Andrew G. Lee

Gulf Coast Division Research Symposium 2024

No abstract provided.

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.

Differential Degeneration Of Neurons In A Mouse Model Of Canavan Disease, Vibha Chauhan, Quy Nguyen, Jeremy Francis, Paola Leone

Rowan-Virtua Research Day

Canavan disease (CD) is an inherited leukodystrophy caused by inactivating mutations to the glial enzyme aspartoacylase (ASPA). ASPA catabolizes neuronal N-acetylaspartate (NAA) into free acetate and aspartate and loss of this function results in the chronic elevation of non-catabolized NAA and the failure of developmental myelination. Elevated NAA is thought to cause damage to myelin and myelin-producing cells (oligodendrocytes, but the viability of neurons in CD is relatively unexplored. We compare here the progressive degeneration of neurons in two regions of the CD mouse brain, the thalamus and the cortex, distinguished by differing degrees of vacuolation, and show that the …

Rare Presentation Of Primary Malignant Peripheral Nerve Sheath Tumor Of The Femur In Neurofibromatosis-1, Akshaj Pole, Danielle Ford, Elizabeth Pollard

North Texas Research Forum 2023

Malignant peripheral nerve sheath tumors (MPNSTs) are rare sarcomas, most commonly seen in patients with Neurofibromatosis type 1 (NF1), that are characterized as aggressive with high rate of local recurrence. Among NF1 patients, the risk of developing MNPSTs is approximately 8-13% over a lifetime. Primary MPNST is exceedingly rare, of which the vast majority are concentrated in the head and neck region. Here, we present a case of a 40-year-old male with NF1 who presented with a giant MPNST that originated in the right proximal femur. The mass was treated with complete surgical resection with right hip disarticulation. In a …

Cerebal Venous Sinus Thrombosis In A Patient With Smith-Magenis Syndrome, Hovra Zahoor, Ameer Hamza, Daniel Vather-Wu, Nilmarie Guzman

South Atlantic Division Research Day 2023

No abstract provided.

Kearns-Sayre Syndrome: Two Case Reports And A Review For The Primary Care Physician., Chad Richmond, Leonard Powell, Zachary D. Brittingham, Alison Mancuso

Rowan-Virtua School of Osteopathic Medicine Faculty Scholarship

Kearns-Sayre syndrome (KSS) is a mitochondrial encephalopathic disorder. Because mitochondria are ubiquitous organelles that are present in almost every human tissue, their dysfunction can affect nearly any organ system and give rise to a wide range of clinical characteristics. 1: As is the case with most diseases associated with mitochondrial DNA (mtDNA) mutations, the clinical features of KSS were defined before modern molecular genetic classifications emerged. 2: The exact prevalence of KSS is unknown; however, estimates place it at about 1:100,000 people. Although it is a rather rare syndrome, the ability to recognize or consider KSS as part of a …

Molecular And Cellular Investigations Of Prader-Willi Syndrome, Anna K. Victor

Theses and Dissertations (ETD)

Prader-Willi syndrome (PWS) is a complex multigenic neurodevelopmental disorder resulting in hypotonia, developmental delay, hypogonadism, sleep dysfunction and childhood onset obesity affecting 1 in 10,000 to 30,000 individuals. PWS is an imprinting disorder that is caused by a loss of expression of maternally imprinted genes in the 15q11.2-q13 region including NDN, MAGEL2, SNRPN/SNURF, and a cluster of snoRNAs. The majority of cases are caused by inheriting a paternal allele deletion of this region (65-75%) and a smaller number are caused by chromosome 15 maternal uniparental disomy (UPD) (20-30%) or imprinting center defects (1-3%). Here, we used dental pulp stem cells …

A Brief Overview Of Triple A Syndrome, Jamaal Khan

Mako: NSU Undergraduate Student Journal

Triple A Syndrome, also known as AAA Syndrome, is a rare autosomal recessive disorder caused by any mutation in the AAAS gene on chromosome 12q13, whose main function is to code for the WD-repeat family regulatory protein, ALADIN. It typically occurs as a group of diseases that are characterized by alacrima, Addison's disease, and achalasia. Alacrima can be defined by a decrease in the amount of tears produced while achalasia is nerve damage in the esophagus that can cause difficulty swallowing. Lastly, Addison's disease is the insufficient production of cortisol and aldosterone produced by the adrenal cortex. There is no …

Fever Of Unknown Origin Secondary To Staphylococcus Epidermidis Infective Endocarditis In A Patient With Aicardi Syndrome, Kimberly Sanchez Lopez, Elvis Caraballo Antonio, Gabriel Barciela Perez, Melanio J. Rodriguez, Yeissen Godinez

East Florida Research Day 2023

INTRODUCTION Aicardi syndrome is a rare neurodevelopmental disorder predominantly affecting females and characterized by agenesis of the corpus callosum, infantile spasms, and distinctive chorioretinal lacunae. We present the case of a 24-year-old female with a known history of Aicardi syndrome who presented with fever of unknown origin, ultimately attributed to Staphylococcus Epidermidis infective endocarditis involving a native valve.

CASE DESCRIPTION A 24-year-old female with a history significant for Aicardi syndrome and epilepsy presented to the emergency department for fever during the past week; her primary care physician sent her for outpatient blood work a few days prior, including blood culture, …

Med12 Is A Critical Regulator Of Neural Crest Lineage And Nervous System Myelination, Fatma Betul Aksoy Yasar

Dissertations & Theses (Open Access)

The Mediator complex (MED) is a multi-subunit protein complex integral to the eukaryotic transcription machinery. MED12 is a Cdk8- regulatory kinase module subunit directly implicated in human disease and is genetically altered in neurological disease and cancer. Numerous attempts at generating an in vivo system to study the role of Med12 failed due to embryonic lethality associated with germline or developmental disruption of Med12 gene. To understand the cellular and molecular processes associated with its role in disease, we generated multiple mouse models with targeted depletion of MED12 in distinct cellular lineages. Our genetically engineered models with induced and conditional …

Comprehensive Care To Improve Quality Of Life: A Case Of Childhood Adrenoleukodystrophy, Miraal S. Dharamsi, Adrian A. Mejia, Cecilia De Vargas

HCA Healthcare Journal of Medicine

The childhood cerebral form of adrenoleukodystrophy (ALD) causes rapid demyelination of cerebral white matter and is clinically characterized by hyperactivity, emotional changes, and poor school performance, as well as progressive cognitive, visual, auditory, speech, and motor decline. While aggressive behavior is a known complication of ALD, treatment of the disease is limited. Moreover, behavioral management is not well described in the available literature, particularly from a psychiatric standpoint. In this case presentation, the patient’s parents reported significant agitation and aggression, which may have been secondary to verbal deficits, in addition to the general neuropathological implications of this disease. Although this …

Ataxia Pancytopenia Syndrome Associated Ocular Albinism: A Clinical Vignette, Dru Curtis, Catherine Boon, Stephanie Ryan, Nausheen Khuddus

North Florida Division Research Day 2022

No abstract available.

Factors That Contribute To Life Satisfaction Of Parents Of Children With Autism Spectrum Disorder In Trinidad & Tobago, Paul Gerard Richards

Dissertations

Problem

The goal of the study was to understand factors contributing to life satisfaction of parents of children with autism spectrum disorder (ASD) from the perspective of positive psychology. The challenges of parenting a child with ASD have been documented extensively, with these parents experiencing higher levels of stress, depression, and lower overall mental health than parents of typically developing children. Stress and hardship can lead to mental health problems for such families. A lack of research was observed about positive outcomes for parents of children with ASD; in particular, no research was available for these parents in Trinidad and …

In Pursuit: A Mother’S Account Of Her Son’S Rare Disease Diagnosis Journey, Anne M. Jones

Journal of Patient-Centered Research and Reviews

A personal account from a mother’s perspective on her undiagnosed son’s medical journey over almost 6 years toward a diagnosis of a rare genetic variant in mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3) resulting in neurodevelopment disorder.

Hippocampal Connectivity In Parkinson's Disease, Landis Llewelyn

Honors Theses

Background: This thesis was conducted in order to investigate possible connections between functional connectivity of the hippocampus in individuals who have Parkinson’s disease.

Methods: The MRI images, the clinical data, and the demographic data of 93 individuals with PD and 18 individuals without PD were obtained from the Parkinson's Progression Markers Initiative. Resting-state fMRI data from a group of PD patients was compared to a control group of non-PD patients by using previously published methods with FMRIB Software Library (FSL) as well as Analysis of Functional Neuroimages (AFNI).

Results: Compared to the control (non-PD) group, results bilaterally showed lesser connectivity …

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 …

A Novel Case Of Bacterial Meningitis In A Patient With Loeys-Dietz, Lacey D. Colvin Do, Christy Fagg

Infectious Disease

No abstract provided.

Comparing Open And Fetoscopic Fetal Surgical Repairs Of Myelomeningocele, Kyra Isaacs

Capstone Showcase

Introduction: There have been great advances in the treatment of myelomeningocele (MMC) spina bifida in the past 20 years. An open surgical repair in-utero has been shown to reduce mortality and morbidity, specifically decreasing the rate of shunt placement and hindbrain herniation compared to a postnatal surgical approach. However, this surgery introduced risks to the mother that were never a consideration in previous surgical approaches.

Methods: This paper compares research on new minimally invasive fetoscopic surgical techniques to open fetal surgery in the prenatal repair of MMC. Searches in PubMed and Clinical Key were conducted to produce papers published on …

Recommendations For The Design Of Therapeutic Trials For Neonatal Seizures., Janet S. Soul, Ronit Pressler, Marilee Allen, Geraldine Boylan, Heike Rabe, Ron Portman, Pollyanna Hardy, Sarah Zohar, Klaus Romero, Brian Tseng, Varsha Bhatt-Mehta, Cecil Hahn, Scott Denne, Stephane Auvin, Alexander Vinks, John Lantos, Neil Marlow, Jonathan M. Davis, International Neonatal Consortium

Manuscripts, Articles, Book Chapters and Other Papers

Although seizures have a higher incidence in neonates than any other age group and are associated with significant mortality and neurodevelopmental disability, treatment is largely guided by physician preference and tradition, due to a lack of data from well-designed clinical trials. There is increasing interest in conducting trials of novel drugs to treat neonatal seizures, but the unique characteristics of this disorder and patient population require special consideration with regard to trial design. The Critical Path Institute formed a global working group of experts and key stakeholders from academia, the pharmaceutical industry, regulatory agencies, neonatal nurse associations, and patient advocacy …

Mechanisms Of Trinucleotide Repeat Instability During Dna Synthesis, Kara Y. Chan

Theses and Dissertations--Toxicology and Cancer Biology

Genomic instability, in the form of gene mutations, insertions/deletions, and gene amplifications, is one of the hallmarks in many types of cancers and other inheritable genetic disorders. Trinucleotide repeat (TNR) disorders, such as Huntington’s disease (HD) and Myotonic dystrophy (DM) can be inherited and repeats may be extended through subsequent generations. However, it is not clear how the CAG repeats expand through generations in HD. Two possible repeat expansion mechanisms include: 1) polymerase mediated repeat extension; 2) persistent TNR hairpin structure formation persisting in the genome resulting in expansion after subsequent cell division. Recent in vitro studies suggested that a …

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 Faculty Scholarship

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 …

Factors Associated With End-Of-Life Planning In Huntington Disease., Nancy R Downing, Siera Goodnight, Sena Chae, Joel S Perlmutter, Michael Mccormack, Elizabeth Hahn, Stacey K Barton, Noelle Carlozzi

Rowan-Virtua School of Osteopathic Medicine Faculty Scholarship

OBJECTIVE: Knowledge of one's gene status for adult onset conditions provides opportunity to make advance end-of-life (EOL) plans. The purposes of these analyses were to (1) determine the prevalence of EOL plans, including advance directives (ADs) among persons across 3 stages of Huntington disease (HD) and (2) examine factors associated with having ADs in this sample.

METHODS: Data are from 503 participants in the HD Quality of Life study. Participants completed an online health-related quality-of-life survey that included questions regarding EOL planning and self-reported HD symptoms. Frequencies were calculated for EOL planning by the HD stage. Bivariate analysis and logistic …

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 …

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 …