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Barriers in Receiving a Diagnosis of Sanfilippo Syndrome: Perceptions from Healthcare Providers and Caregivers
No full textSanfilippo syndrome (MPS III) is a rare, degenerative condition characterized by symptoms impacting neurological functioning, behavior, and quality of life. Diagnosis is often not made until three to six years of age, but comprehensive and effective symptom management have been reported to optimize patient longevity. The aim of this study was to identify barriers to diagnosis and the corresponding impact on patients. This study surveyed healthcare providers and caregivers of individuals with Sanfilippo syndrome. Both quantitative and qualitative methods were employed to assess provider knowledge and comfortability in managing Sanfilippo syndrome. Additionally, it explored caregiver perspectives on healthcare system navigation, their child’s symptoms, and their experience with receiving the diagnosis. Both surveys assessed perceptions of access to, utility of, and benefits provided by genetic counselors as well as barriers experienced during the diagnostic odyssey of these patients. Five healthcare providers and seventeen caregivers met inclusion criteria and participated in the study. According to caregiver reports, the time from initial symptom onset to formal diagnosis was found to average 48.2 months. Caregivers reported provider lack of knowledge (70.6%) and general lack of knowledge (70.6%) regarding Sanfilippo syndrome as the greatest barriers to receiving a timely diagnosis. All providers reported lack of access to genetic services as one of the greatest barriers, which was found to be significant when compared to caregiver responses (p=0.002). Majority of family respondents agreed or strongly agreed that their child’s delayed diagnosis negatively impacted their health (64.7%) and eligibility for clinical trials (58.9%). Both groups were found to strongly agree on the importance of genetic counseling and earlier referrals (Spearman’s correlation ρ = 0.995, p \u3c 0.001). Responses emphasize the need for ongoing education surrounding Sanfilippo due to diagnostic delays and highlight the importance of genetic counselors’ role in the diagnostic odyssey. Earlier diagnosis for these patients is crucial for symptom management, clinical trial eligibility, and improvement in quality of life
The Effects of Schema Therapy on Shame in Victims of Intimate Partner Violence
No full textIntimate partner violence (IPV) is prevalent in the United States and worldwide. Despite the deleterious effects of IPV on personal and societal wellness, there is limited research on effective interventions for IPV victims. Among the detrimental effects of IPV on mental health, shame is a common emotion experienced by IPV victims. Shame can contribute to an array of mental health concerns, such as depression, anxiety, low self-esteem, PTSD, substance abuse, and suicidality. Using a multiple baseline, singe case design, the aim of the current study was to evaluate the effects of Schema Therapy (ST) on shame on IPV victims. Based on the results there is a functional relation between shame and the schema therapy intervention. In this manuscript, I explain the rationale for the current study, provide a review of the pertinent literature, describe the methodology, analyze results, and discuss implications for research and practice
The Relationship Between Cardiac Patient Beliefs and Experiences with Insurability and Their Decisions on Whether or Not to Pursue Genetic Testing
No full textSince the enactment of the Genetic Information Non-Discrimination Act (GINA) in 2008, genetics providers have been incorporating conversations about GINA in pre-test counseling. There is currently limited evidence of the effects of personal or family histories of cardiomyopathy or aortopathy and associated genetic testing on patients seeking insurance policies not protected by GINA, including life, long term care, and disability insurance. This study aimed to determine whether individuals with a personal or family history of cardiomyopathy or aortopathy are having conversations about future insurability with their healthcare providers and how they perceive their ability to get these insurances when deciding to pursue genetic testing. This study included an original online survey sent to individuals through various cardiomyopathy and aortopathy organizations and websites that consisted of yes or no, Likert-style items, multiple choice, and open-ended questions. A total of 108 responses were analyzed using Chi square analysis to investigate the relationship between factors considered prior to genetic testing and the decision to get genetic testing and to elicit beliefs about the relationship between genetic testing and attainment of life, long term care, and disability insurance. Most participants were European/white women (82.8%, 77.8%), most had a personal or family history of cardiomyopathy (53.8%), and others had a personal or family history of aortopathy (41.7%). More participants had conversations about future insurability prior to pursuing genetic testing when they had pre-test counseling with a genetics or healthcare provider compared to when they did not have pre-test counseling with a provider (41.4%, 19.0%). Having these pre-test conversations was not statistically significant when compared to the participants’ perceived level of importance of future insurability (p = .100). The level of importance of future insurability was also not statistically significant compared to the decision to pursue genetic testing. In their current form, conversations with genetics or other healthcare providers about the limitations of GINA do not appear to be significantly impacting patient decision-making regarding genetic testing. More data is needed to determine if genetic testing impacts individuals’ insurability to continue to better inform how healthcare providers discuss GINA
Exploring DI College Coaches’ Perceptions of Holistic Coaching and the Factors Impacting Their Ability to Succeed in the Current College Sports Landscape
No full textIn the highly competitive Division I (DI) college sports system, coaches are expected to produce winning programs while developing their college athletes holistically. Recent changes in NCAA policies complicate the coach-athlete relationship, hindering coaches\u27 ability to serve as effective holistic leaders. This study uses grounded theory to understand how DI coaches in high-profile sports perceive their roles as holistic leaders and manage external challenges to provide holistic college athlete experiences. Semi-structured interviews with 12 football and women’s basketball coaches revealed five main themes: 1) coaches are educators, 2) strategies for holistic coaching, 3) supporting Black college athletes, 4) college sports are becoming more transactional, and 5) the “me” generation of college athletes. The findings present a conceptual model of holistic coaching and implications for DI institutions looking to improve coaching retention and the holistic development of their college athletes
Circannual and Kinship Cues Shape Reproduction and Epigenetic Aging in Peromyscus
No full textEvolutionary success is defined by the ability of a species to adapt and survive across many generations. This success is not determined by any single attribute but rather includes the entrenched, complex system that could be associated with biological rhythms, reproductive strategies, and regulations of epigenetic and genetic components. By using closed Peromyscus colonies as a model and by coupling mathematical modeling, analyses of breeding records, epigenetic studies, and in vitro and in vivo experiments, this dissertation aims to discover how Peromyscus adjusts to the internal and external pressures to ensure their survival and preserve evolutionary fitness in controlled environments.
The first major finding of this dissertation is how Peromyscus can regulate the timing of their breeding, even inside an animal facility with controlled temperature and light exposure, in a manner that follows circannual rhythms. Specifically, over the span of more than 60 years, Peromyscus continues to breed in accordance with equinoxes, indicating that their biological architecture is hardwired to this specific periodic adaptation. Further exploration in the patterns of DNA methylation reveals that there are specific methylation signals that also follow a cyclic trend according to the birth season of the deer mice. Additionally, we reveal how monogamous mating systems improve reproductive consistency and resistance to seasonal cues. Monogamous Peromyscus pairs showed more stable methylation patterns in their offspring and less seasonal variation in reproductive output than their polygamous counterparts. These results imply that social structures and mating behaviors that protect young from environmental uncertainty, in addition to biological clocks, support a species\u27 well-being.
We also unveiled an unexpected relationship between parental relatedness and epigenetic aging. Contrary to classical expectations of inbreeding depression, increased kinship between parents correlated with slower biological aging in offspring. These findings challenge traditional assumptions that inbreeding universally reduces fitness, pointing instead to a stabilizing effect of genetic similarity on DNA methylation, especially when the deleterious alleles that may account for the loss of offspring of related parents have been purged out of the population. This epigenetic buffering may serve as a protective mechanism, maintaining genomic integrity and promoting longevity in offspring born under close kinship. An epigenetic signature of relatedness was also described that predicts parental kinship by methylation analyses. Furthermore, long-term colony records reveal that despite the constraints of a closed population, reproductive output remains resilient through an adaptive compensatory mechanism.
Collectively, by unraveling the molecular underpinnings of seasonal breeding, monogamous stability, and relatedness-driven epigenetic buffering, this work challenges conventional views about common regulators of breeding seasonality, inbreeding depression, and highlights the evolutionary ingenuity of Peromyscus in maintaining reproductive health across generations. These insights extend beyond laboratory settings, offering broader implications for conservation strategies and the sustainable management of small, isolated populations
Professional Learning Communities and Digital Literacy: A Framework for Elementary Education
No full textAs digital technologies redefine the definition of literacy, elementary teachers face the challenge of effectively integrating digital literacies into their classroom spaces. This dissertation examines how professional development can enhance teachers’ understanding and implementation of high-quality digital literacy practices. Grounded in the New Literacies framework, the study identifies key characteristics of effective digital literacy instruction and explores how professional development that is contextualized, meaningful, and sustained can foster these practices. Using data from classroom observations, professional learning communities, and teacher interviews, the research highlights how individualized coaching and collaboration empower teachers to create authentic, engaging, and critical digital literacy experiences. The findings offer actionable insights for designing professional development models that support 21st-century literacy education
The Moderating Effects of Religious Support and Family Support Between Racial Discrimination and Psychological Health Outcomes Among Black Adolescents
No full textRacial discrimination is a common experience for Black adolescents. This study aimed to examine family support and religious support as a moderating variable between discrimination and mental health among Black adolescents. This study utilized data from an existing data set, the National Survey of American Life-Adolescent (NSAL-A). The NSAL-A included 1170 adolescents: 810 African American1 and 360 Black Caribbean2. The sample contained an equal amount of female (n = 608) and male (n = 562) Black adolescents3, who range in age from 13 to 17 years. Significant findings suggest that family support moderates the impact of racial discrimination on perceived stress and selfesteem but not on depressive symptomology for Black youth. This research affirms the value of familial connection in promoting positive development among Black youth. By examining the protective nature of family and religious support, this study adds to the broader literature on the mental health of Black adolescents navigating experiences of racial discrimination
Direct Link Between Systemic Vascular Dysfunction and Alzheimer’s Disease Pathogenesis: Unveiling a New Paradigm
No full textAlzheimer’s disease (AD) is the most common form of dementia with 6.9 million Americans aged 65 years and older living with AD in 2024. Furthermore, cardiovascular diseases (CVDs) and cardiovascular risk factors are associated with an increased risk of AD and mild cognitive impairment, and the interaction between vascular and neurodegenerative processes has been proposed to be synergistic and to occur early in disease pathogenesis. However, the precise mechanisms and molecular processes that are likely associated with the incidence of these two leading aging-related chronic diseases remain elusive. To this end, the research question of our study was whether peripheral vascular dysfunction plays a critical role in the development of AD pathology, and this informed the overarching hypothesis of our study, that healthy vascular endothelial cells sense the presence of SPOs leading to vascular dysfunction, and systemic vascular dysfunction occurs prior to the development of amyloid pathology in early onset Alzheimer’s disease (EOAD).
To address these questions, we first hypothesized that SPOs can be recognized by the peripheral vasculature leading to ER stress and vascular injury. We showed that acute application of SPOs causes pathologically exacerbated endothelium-dependent vasodilation via generation of nitric oxide. In addition, SPO-induced ER stress in the endothelial cells increased mitochondrial reactive oxygen species (ROS) and loss of locomotor filaments but was able to maintain cell viability, indicating that short-term treatment of endothelial cells with SPOs does not lead to cell death, but it causes vascular dysfunction.
On the second part of our study, we investigated whether peripheral vascular dysfunction would precede amyloid pathology. Although there is evidence that amyloid deposition in the vessels can cause structural or cellular changes in arteries of patients with CVD and pause as a risk factor for cognitive decline later in life, it remains unknown whether systemic vascular dysfunction occurs prior to the development of AD, whether this occurs in a sex-dependent manner, or whether vascular tissue could play a role in the deposition of Aβ peptides. This was our hypothesis, and to test it, we used a mouse model of EOAD (APP/PS1), to evaluate vascular function in peripheral arteries prior to (3 months old) and during (7 months old) the onset of amyloid pathology. Our findings showed that endothelial dysfunction occurs prior to the onset of amyloid pathology independent of sex. This was evidenced by the resistance arteries showing impaired relaxation to acetylcholine (ACh) which is a muscarinic receptor agonist that causes endothelium-dependent vasodilation. These novel findings play a crucial role in highlighting that although the APP/PS1 mice are genetically modified to have increased amyloid deposition, peripheral vascular dysfunction occurs prior to the increased deposition of A in EOAD, and this can affect the autoregulation of blood vessels and in the long-run, interfere with cerebral blood flow in the brain. In addition, we observed that during the onset of amyloid pathology, the female APP/PS1 mice had increased deposition of A1-42 peptides which colocalized with endothelial cells in the blood vessels of the hippocampus. Furthermore, the female APP/PS1 mice had increased arterial stiffness. This interesting finding led us to question whether the increased arterial stiffness could lead to increased pulsatile pressure which can in turn trigger the endothelial cells in the cerebral microvessels to release more Aβ peptides, thus impairing cerebral vascular function. Although we did not assess this phenomenon in the course of this project, future studies are proposed to demystify these observations.
Finally, the last part of our study investigated the peripheral vascular remodeling and maladaptation that occurs during chronic amyloid pathology in 22- month-old male and female APP/PS1 mice. It is shown that the development of peripheral vascular dysfunction, characterized by large elastic artery stiffening and endothelial dysfunction with aging contributes to cardiovascular complications that compound the neurodegenerative processes in the central nervous system, further accelerating the progression of AD. Therefore, we hypothesized that peripheral arteries would present with endothelial dysfunction, increased collagen deposition hence increased pulse wave velocity, and increased Aβ1-42 deposition resulting in impaired blood flow regulation. Our findings showed that the resistance arteries from the aged male and female APP/PS1 mice had impaired endotheliumdependent relaxation, and they had increased collagen deposition in the aortas. Although there could be trans-gene effects of the animal model, the gene expression levels of the amyloid precursor protein (APP) in the aortas were not increased indicating that the observed peripheral vascular dysfunction could be driven by the aging process in these mice. However, further studies are needed to distinguish whether these effects are due to aging or due to the amyloid pathology. Overall, the findings from our study show that Aβ1-42 propagates its toxic effects in the peripheral vasculature by triggering molecular events that could progressively become detrimental in aggravating peripheral vascular function during the development of amyloid pathology. Further, we highlight the link between AD and CVD, by demonstrating that peripheral vascular abnormalities may be an early marker and potential mediator of early onset Alzheimer’s disease (EOAD). This could inform novel therapeutic strategies that target vascular health, offering a new approach to prevent or delay the onset of Alzheimer\u27s disease and other neurodegenerative diseases
As Iron Sharpens Iron: Intentional Near-Peer Mentorship in the Collegiate Applied Studio
No full textUndergraduate students struggle to adjust to the expectations of university music programs. Mentoring programs are consistently cited as tools to build social capital and academic success, but there are few documented studies of mentoring applied directly to the traditional model of conservatory music instruction. Effective near-peer mentoring can build musicianship skills and develop accountability, establishing stronger practice routines and easing the transition to collegiate music study for younger students. This case study examines three models of mentorship to identify ways to create an intentional mentorship program within the applied studio, regardless of scale or specific form of instruction
Multi-Dimensional Strategies Impacting Beginning Readers’ Word Solving and Engagement
No full textThis dissertation studied the impact of reading instruction on beginner-level readers’ decoding skills and engagement among four first-grade students in Lexington, South Carolina. The following research question directed the study:
Will an instructional strategy foregrounded on direct, systematic phonics instruction in conjunction with multi-dimensional reading strategies improve beginner readers’ decoding skills and engagement?
The study is grounded in several theoretical frameworks, including Scarborough’s Reading Rope (Appendix A), the Simple View of Reading, the Active View of Reading (Appendix C), Onset-Rime phonics instruction, and Self-Determination Theory. Interventions included the LETRS Science of Reading Phonics Small Group Plan (Moats & Tolman, 2019) and utilizing Secret Stories (Garner, 2016). Data sources were teacher field notes (Appendix G), pre-and post-assessments using the Fountas and Pinnell Reading Level Assessment (2010), the Phonics Decoding Assessment (Phonic Decoding Assessment.pdf, 2023), and the Student Engagement Inventory (Table 3.2).
A-priori coding and thematic data analysis approach were used to search for themes in self-efficacy. The results showed positive results for two students’ decoding and engagement while the other two participants grew in their decoding and not as greatly in their engagement. Bandura’s self-efficacy was the focus of the findings in this study