Neurology Commons^™

Nexmif Pathogenic Variants In Individuals Of Korean, Vietnamese, And Mexican Descent, Elizabeth Langley, Laura S Farach, Mary K Koenig, Hope Northrup, David F Rodriguez-Buritica, Kate Mowrey

Faculty, Staff and Student Publications

NEXMIF pathogenic variants have been known to produce a wide spectrum of X-linked intellectual disability (ID) in both males and females. Thus far, few individuals from diverse populations have been described with NEXMIF-related disorders. Herein, we report three individuals with NEXMIF pathogenic variants, the first two are the only males of Korean and Vietnamese descent described with this disorder to our knowledge. The last patient is a Hispanic female who harbors the same pathogenic variant as a previously described Caucasian individual, but with differing clinical presentation. These patients present with many classic symptoms of NEXMIF-related disorders including ID, epilepsy, developmental …

Sex Differences In The Association Between Cardiovascular Diseases And Dementia Subtypes: A Prospective Analysis Of 464,616 Uk Biobank Participants, Caiyun Dong, Chunmiao Zhou, Chunying Fu, Wenting Hao, Akihiko Ozaki, Nipun Shrestha, Salim S. Virani, Shiva Raj Mishra, Dongshan Zhu

Office of the Provost

Background: Whether the association of cardiovascular diseases (CVDs) with dementia differs by sex remains unclear, and the role of socioeconomic, lifestyle, genetic, and medical factors in their association is unknown.
Methods: We used data from the UK Biobank, a population-based cohort study of 502,649 individuals. We used Cox proportional hazards models to estimate sex-specific hazard ratios (HRs) and 95% confidence intervals (CI), and women-to-men ratio of HRs (RHR) for the association between CVD (coronary heart diseases (CHD), stroke, and heart failure) and incident dementia (all-cause dementia, Alzheimer's Disease (AD), and vascular dementia (VD)). The moderator roles of socioeconomic (education, income), …

Providing Effective Assessment Feedback To Patients: Lessons Learned From Feedback After A Severe Injury, Kelsie Mcquinn

Graduate School of Professional Psychology: Doctoral Papers and Masters Projects

This paper seeks to articulate lessons learned from feedback received after a severe injury in order to help guide neuropsychologists provide effective feedback to patients. Given that there is no agreed upon conceptual framework for providing neuropsychological assessment feedback, parallels are drawn from what works in clinical psychology – the working alliance. I use personal examples to highlight how the working alliance, as well as other psychological principles, can help inform neuropsychologists provide the most effective feedback to patients.

Decompression And Interlaminar Stabilization For Lumbar Spinal Stenosis: A Cohort Study And Two-Dimensional Operative Video, Olivia E. Gilbert, Sarah E. Lawhon, Twila L. Gaston, Jared M. Robichaux, Gabriel Claudiu Tender

School of Medicine Faculty Publications

Background and Objectives: Lumbar spinal stenosis is one of the most common causes of disability in the elderly and often necessitates surgical intervention in patients over the age of 65. Our study aimed to evaluate the clinical efficacy of interlaminar stabilization following decompressive laminectomy in patients with lumbar stenosis without instability. Materials and Methods: Twenty patients with lumbar stenosis underwent decompressive laminectomy and interlaminar stabilization at our academic institution. Clinical outcomes were measured using the visual analog scale (VAS) and Oswestry disability index (ODI) at the 2-month, 6-month, and 1-year postoperative visits, and these outcomes were compared to the preoperative …

Targeted Osmotic Lysis: A Novel Approach To Targeted Cancer Therapies, Harry J. Gould, Dennis Paul

School of Medicine Faculty Publications

The conventional treatment of cancer has been based on the delivery of non-selective toxins and/or ionizing energy that affect both the cancer and normal tissues in the hope of destroying the offending disease before killing the patient. Unfortunately, resistance often develops to these treatments and patients experience severe, dose-limiting adverse effects that reduce treatment efficacy and compromise quality of life. Recent advances in our knowledge of the biology of tumor cells and their microenvironment, the recognition of surface proteins that are unique to specific cancers and essential to cell growth and survival and signaling pathways associate with invasion and metastasis …

Perceptions Of Parental Care And Overprotection In Childhood: Influences On The Neurobiological Adaptation To Motherhood, Leah Grande

Electronic Theses and Dissertations

Recalled memories of caregiving in childhood are especially salient during the postpartum period and inform mothers’ conceptualization of her new parenting role. Positive perceptions of care received from one’s parents are related to improved maternal-infant bonding and positive parenting behaviors, whereas negative perceptions of care convey risk for maladaptive parenting. Few studies have investigated neural and biological mechanisms contributing to observed associations between childhood care and the adaptation to motherhood. The following studies address this gap by examining how perceptions of childhood parental care and overprotection are related to maternal behavior, oxytocin levels, and neural response. Methods: Perceived childhood maternal …

The Intersection Of Traumatic Brain Injury And Homelessness, Stephanie A. Chassman

Electronic Theses and Dissertations

The rates of TBI are significantly higher among individuals experiencing homelessness compared to the general population. Up to half of individuals experiencing homelessness may have a TBI. Accurate prevalence rates of TBI among individuals experiencing homelessness are difficult to obtain due to different methods of sampling participants and differing definitions of TBI; therefore, estimates may be underrepresented. Despite past research that has examined the relationship between TBI and homelessness, there are specific gaps in knowledge such as correlates and risk factors of TBI among individuals experiencing homelessness. This three-manuscript dissertation attempts to address these gaps in knowledge.

The first manuscript …

Profiles And Correlates Of Language And Social Communication Differences Among Young Autistic Children, Rachel Reetzke, Vini Singh, Ji Su Hong, Calliope B. Holingue, Luther G. Kalb, Natasha N. Ludwig, Deepa Menon, Danika L. Pfeiffer, Rebecca J. Landa

Communication Disorders & Special Education Faculty Publications

Delays in early language development are characteristic of young autistic children, and one of the most recognizable first concerns that motivate parents to seek a diagnostic evaluation for their child. Although early language abilities are one of the strongest predictors of long-term outcomes, there is still much to be understood about the role of language impairment in the heterogeneous phenotypic presentation of autism. Using a personcentered, Latent Profile Analysis, we first aimed to identify distinct patterns of language and social communication ability in a clinic-based sample of 498 autistic children, ranging in age from 18 to 60 months (M = …

Effect Of Living Arrangements On Cognitive Function In Chinese Elders: A Longitudinal Observational Study, Yanwei Lin, Qi Zhang, Tingxian Wang, Zhirong Zeng

Community & Environmental Health Faculty Publications

Objective To examine how living arrangement as a social contextual factor can affect Chinese elders’ cognitive function.

Setting and participants Our sample consists of 2486 Chinese elders from two waves (2014 and 2018) of the Chinese Longitudinal Healthy Longevity Survey (CLHLS) that was administered in 22 of China’s 31 provinces using a multi-stage, disproportionate, purposive random sampling method. The CLHLS aims to better understand the determinants of healthy longevity in China and collects extensive data on a large population of fragile elders aged 80–112 in China.

Outcome measures Cognitive function was measured by the Mini-Mental State Examination (MMSE). Living arrangement …

Iranian Parents' Perceptions On Physical Activity For Their Children With Autism Spectrum Disorder During The Covid-19 Pandemic, Sarvin Salar, Justin A. Haegele, Hassan Daneshmandi

Human Movement Studies & Special Education Faculty Publications

Purpose: The COVID-19 pandemic is a remarkable health crisis that enforced most people to stay at home and quarantine for a period of time and seems to be having negative impacts on physical activity and mental health worldwide. Autism Spectrum Disorder (ASD), is a neurodevelopmental disorder with a deficit in social interaction characteristics, relationships, and stereotyped behaviors. This study examined Iranian parents’ perceptions of physical activity for their children with ASD during the COVID-19 pandemic.

Methods: In this study, an explanatory qualitative methodology was used and data were collected via semi-structured phone interviews. The samples included 40 Iranian parents (aged …

Blood Metabolites Predicting Mild Cognitive Impairment In The Study Of Latinos-Investigation Of Neurocognitive Aging (Hchs/So), Shan He, Einat Granot-Hershkovitz, Ying Zhang, Jan Bressler, Wassim Tarraf, Bing Yu, Tianyi Huang, Donglin Zeng, Sylvia Wassertheil-Smoller, Melissa Lamar, Martha Daviglus, Maria J Marquine, Jianwen Cai, Thomas Mosley, Robert Kaplan, Eric Boerwinkle, Myriam Fornage, Charles Decarli, Bruce Kristal, Hector M Gonzalez, Tamar Sofer

Faculty, Staff and Student Publications

INTRODUCTION: Blood metabolomics-based biomarkers may be useful to predict measures of neurocognitive aging.

METHODS: We tested the association between 707 blood metabolites measured in 1451 participants from the Hispanic Community Health Study/Study of Latinos (HCHS/SOL), with mild cognitive impairment (MCI) and global cognitive change assessed 7 years later. We further used Lasso penalized regression to construct a metabolomics risk score (MRS) that predicts MCI, potentially identifying a different set of metabolites than those discovered in individual-metabolite analysis.

RESULTS: We identified 20 metabolites predicting prevalent MCI and/or global cognitive change. Six of them were novel and 14 were previously reported as …

Filled/Non-Filled Pairs: An Empirical Challenge To The Integrated Information Theory Of Consciousness, Amber R. Hopkins, Kelvin J. Mcqueen

Philosophy Faculty Articles and Research

Perceptual filling-in for vision is the insertion of visual properties (e.g., color, contour, luminance, or motion) into one’s visual field, when those properties have no corresponding retinal input. This paper introduces and provides preliminary empirical support for filled/non-filled pairs, pairs of images that appear identical, yet differ by amount of filling-in. It is argued that such image pairs are important to the experimental testing of theories of consciousness. We review recent experimental research and conclude that filling-in involves brain activity with relatively high integrated information (Φ) compared to veridical visual perceptions. We then present filled/non-filled pairs as …

An Exploration Of Effective Patient Education With An Emphasis On Concussion, Kayla M. Ruopp

Health, Human Performance and Recreation Undergraduate Honors Theses

Concussion is a prevalent healthcare issue in the US, with approximately 1.6-3.8 million sports and recreation-related concussions each year in all ages. A concussion can be defined as a traumatic brain injury caused by biomechanical forces. When an athlete sustains a concussion, a physiologic cascade of events occurs. The most common signs and symptoms of a concussion include: loss of balance, disorientation, headache and confusion. Concussion assessments are important in order to determine the presence of an impairment and there are a multitude of tests that clinicians can use in order to isolate each type of damage. Studies have shown …

Profile Of Autism Spectrum Disorder In Tuberous Sclerosis Complex: Results From A Longitudinal, Prospective, Multisite Study, Jamie K Capal, Marian E Williams, Deborah A Pearson, Robin Kissinger, Paul S Horn, Donna Murray, Kristn Currans, Bridget Kent, Martina Bebin, Hope Northrup, Joyce Y Wu, Mustafa Sahin, Darcy A Krueger, Tacern Study Group

Faculty, Staff and Student Publications

OBJECTIVE: Tuberous sclerosis complex (TSC) is highly associated with autism spectrum disorder (ASD). Objectives of the study were to characterize autistic features in young children with TSC.

METHODS: Participants included 138 children followed from ages 3 to 36 months with TSC from the Tuberous Sclerosis Complex Autism Center of Excellence Research Network (TACERN), a multicenter, prospective observational study aimed at understanding the underlying mechanisms of ASD in TSC. Developmental and autism-specific assessments were administered, and a clinical diagnosis of ASD was determined for all participants at 36 months. Further analyses were performed on 117 participants with valid autism assessments based …

Mitochondrial Phenotypes In Purified Human Immune Cell Subtypes And Cell Mixtures, Shannon Rausser, Caroline Trumpff, Marlon A. Mcgill, Alex Junker, Wei Wang, Siu-Hong Ho, Anika Mitchell, Kalpita R. Karan, Catherine Monk, Suzanne C. Segerstrom, Rebecca G. Reed, Martin Picard

Psychology Faculty Publications

Using a high-throughput mitochondrial phenotyping platform to quantify multiple mitochondrial features among molecularly defined immune cell subtypes, we quantify the natural variation in mitochondrial DNA copy number (mtDNAcn), citrate synthase, and respiratory chain enzymatic activities in human neutrophils, monocytes, B cells, and naïve and memory T lymphocyte subtypes. In mixed peripheral blood mononuclear cells (PBMCs) from the same individuals, we show to what extent mitochondrial measures are confounded by both cell type distributions and contaminating platelets. Cell subtype-specific measures among women and men spanning four decades of life indicate potential age- and sex-related differences, including an age-related elevation in mtDNAcn, …

Intermittent Hypoxia And Effects On Early Learning/Memory: Exploring The Hippocampal Cellular Effects Of Pediatric Obstructive Sleep Apnea, Arvind Chandrakantan, Adam C Adler, Mehmet Tohsun, Farrah Kheradamand, Russell S Ray, Steven Roth

Faculty, Staff and Students Publications

This review provides an update on the neurocognitive phenotype of pediatric obstructive sleep apnea (OSA). Pediatric OSA is associated with neurocognitive deficits involving memory, learning, and executive functioning. Adenotonsillectomy (AT) is presently accepted as the first-line surgical treatment for pediatric OSA, but the executive function deficits do not resolve postsurgery, and the timeline for recovery remains unknown. This finding suggests that pediatric OSA potentially causes irreversible damage to multiple areas of the brain. The focus of this review is the hippocampus, 1 of the 2 major sites of postnatal neurogenesis, where new neurons are formed and integrated into existing circuitry …

A Systematic Review And Meta-Analysis On The Efficacy Of Repeated Transcranial Direct Current Stimulation For Migraine, Guoshuai Cai, Zhu Xia, Leigh Charvet, Feifei Xiao, Abhishek Datta, X Michelle Androulakis

Publications and Research

Purpose: Transcranial direct current stimulation (tDCS) may have therapeutic potential in the management of migraine. However, studies to date have yielded conflicting results. We reviewed studies using repeated tDCS for longer than 4 weeks in migraine treatment, and performed meta-analysis on the efficacy of tDCS in migraine.

Methods: In this meta-analysis, we included the common outcome measurements reported across randomized controlled trials (RCTs). Subgroup analysis was performed at different post-treatment endpoints, and with different stimulation intensities and polarities.

Results: Five RCTs were included in the quantitative meta-analysis with a total of 104 migraine patients. We found a significant reduction of …

Autism: A Deep Insight, Hemaila Tariq, Muhammad Yusuf Hafiz

Medical College Documents

No abstract provided.

Cooper Neurological Institute, Kayla Cupano

Department of Occupational Therapy Entry-Level Capstone Projects

No abstract provided.

Examining Criteria For Defining Persistent Post-Concussion Symptoms In Children And Adolescents, Grant L. Iverson, Justin E. Karr, Bruce Maxwell, Ross Zafonte, Paul D. Berkner, Nathan E. Cook

Psychology Faculty Publications

Researchers operationalize persistent post-concussion symptoms in children and adolescents using varied definitions. Many pre-existing conditions, personal characteristics, and current health issues can affect symptom endorsement rates in the absence of, or in combination with, a recent concussion, and the use of varied definitions can lead to differences in conclusions about persistent symptoms and recovery across studies. This study examined how endorsement rates varied by 14 different operational definitions of persistent post-concussion symptoms for uninjured boys and girls with and without pre-existing or current health problems. This cross-sectional study included a large sample (age range: 11–18) of girls (n = …

Aberrant Maturation Of The Uncinate Fasciculus Follows Exposure To Unpredictable Patterns Of Maternal Signals, Steven J. Granger, Laura M. Glynn, Curt A. Sandman, Steven L. Small, Andre Obenaus, David B. Keator, Tallie Z. Baram, Hal S. Stern, Michael A. Yassa, Elyssia Poggi Davis

Psychology Faculty Articles and Research

Across species, unpredictable patterns of maternal behavior are emerging as novel predictors of aberrant cognitive and emotional outcomes later in life. In animal models, exposure to unpredictable patterns of maternal behavior alters brain circuit maturation and cognitive and emotional outcomes. However, whether exposure to such signals in humans alters the development of brain pathways is unknown. In mother–child dyads, we tested the hypothesis that exposure to more unpredictable maternal signals in infancy is associated with aberrant maturation of corticolimbic pathways. We focused on the uncinate fasciculus, the primary fiber bundle connecting the amygdala to the orbitofrontal cortex and a key …

The Rac-Gef Tiam1 Promotes Dendrite And Synapse Stabilization Of Dentate Granule Cells And Restricts Hippocampal-Dependent Memory Functions, Jinxuan Cheng, Federico Scala, Francisco A Blanco, Sanyong Niu, Karen Firozi, Laura Keehan, Shalaka Mulherkar, Emmanouil Froudarakis, Lingyong Li, Joseph G Duman, Xiaolong Jiang, Kimberley F Tolias

Faculty, Staff and Students Publications

The dentate gyrus (DG) controls information flow into the hippocampus and is critical for learning, memory, pattern separation, and spatial coding, while DG dysfunction is associated with neuropsychiatric disorders. Despite its importance, the molecular mechanisms regulating DG neural circuit assembly and function remain unclear. Here, we identify the Rac-GEF Tiam1 as an important regulator of DG development and associated memory processes. In the hippocampus, Tiam1 is predominantly expressed in the DG throughout life. Global deletion of Tiam1 in male mice results in DG granule cells with simplified dendritic arbors, reduced dendritic spine density, and diminished excitatory synaptic transmission. Notably, DG …

Central Nervous System Intravascular Lymphoma Leading To Rapidly Progressive Dementia, Christie G Turin, Kevin Ting, Anthony Bradshaw, S Richard Dunham, Karen Nunez-Wallace, Shital M Patel, Priti Dangayach, Stephanie Holdener, Weei-Chin Lin

Faculty, Staff and Students Publications

Intravascular lymphoma is an uncommon subtype of B-cell lymphoma with neoplastic cells limited to the lumen of small blood vessels. We report a case of a 52-year-old man who presented with constitutional symptoms and rapidly progressive dementia. He was found to have diffuse leptomeningeal and faint parenchymal enhancement on magnetic resonance imaging and was subsequently diagnosed with intravascular lymphoma following a brain biopsy. He responded remarkably well to systemic and intrathecal chemotherapy. The diagnosis and treatment of intravascular lymphoma have been guided by a few case reports and are largely based on expert opinion.

Mechanisms Of Sensory Adaptation In The Primate Visual System, Boris Isaac Peñaloza Rojas

Electronic Theses and Dissertations

Under ecological conditions, the luminance impinging on the retina varies within a dynamic range of 220 dB. Stimulus contrast can also vary drastically within a scene, and eye movements leave little time for sampling luminance. In addition, the amount of information reaching our visual system far exceeds the brain’s information processing capacity. Given the limited dynamic range of its neurons and its limited capacity in processing visual information in real-time, the brain deploys both structural and functional solutions that work in tandem to adapt to the surroundings. In this work, employing visual psychophysics and computational neuroscience, we study the mechanisms …

A Systematic Review Of Center Of Mass As A Measure Of Dynamic Postural Control Following Concussion, Sarah Patejak, Joshua Forrest, Emily Harting, Mable Sisk, Eric Schussler

Rehabilitation Sciences Faculty Publications

BACKGROUND: The incidence of sports-related concussion in the US is between 1.6-3.8 million annually. Identification of ongoing impairment post-concussion continues to be challenging, as research indicates many patients are cleared for return to activity while still suffering subclinical impairment of function. Purpose: To identify and review the current literature on the use of center of mass (COM) during gait as a potential indicator variable after concussive injury. Study Design: Systematic Review.

METHODS: A Pubmed search was undertaken utilizing search terms involving gait performance and concussion. Study inclusion criteria included: (1) COM used as a variable in data analysis, (2) study …

Addressing The Unspoken Adl: A Professional Development Training, Cadence Starr, Angela Blackwell

Fall 2020 Virtual OTD Capstone Symposium

Sexual activity is the most neglected and unspoken about Activity of Daily Living (ADL) in occupational therapy clinical practice due to lack training on how to address it with clients. Addressing the Unspoken ADL is a professional development training, created to train occupational therapist on how to talk about and include sexuality into evaluations and intervention strategies when working with individuals with spinal cord injury. This poster presentation outlines the completed literature review and development and implementation of Addressing the Unspoken ADL: A Professional Development Training.

Low Cognitive Function Is Associated With Reduced Functional Fitness Among Community-Dwelling Older Adults, Michelle Gray, Joshua Gills, Jordan Glenn, Erica Madero, Aidan Hall, Nami Fuseya, Jennifer Vincenzo, Nick Bott

Health, Human Performance and Recreation Faculty Publications and Presentations

Among older adults over 70, 22-30% report difficulty performing at least one activity of daily living (ADL). While the precipitants of ADL decline are multifactorial, over 50% of cognitively impaired adults require assistance with ADLs. The exact relationship between cognitive and functional decline remains unknown, but it is important to understand their relationship. Eighty-three older adults (80.9 + 5.4 years) enrolled in this study and completed functional fitness and cognitive assessments. Functional fitness assessments included: Short Physical Performance Battery (SPPB), 10-meter walk, dual-task, and power chair stand (average and peak). Cognition was assessed using the Montreal Cognitive Assessment (MoCA) and …

Neural Correlates Of Social Pain In Psychological Disorders: Implications For Educational Settings, Skye E. Johnson

Honors Projects

Pain has long been defined as a multidimensional construct; in past research, not only have the physical and sensory aspects of pain been investigated, but also the cognitive and emotional aspects, which include the experience of social pain. This experience is generally accepted to be very distressing and can have adverse effects on one's mental health, especially for those with neurological disorders. In my paper, I examine the effects of social pain on brain activity in individuals with autism spectrum disorder (ASD) and borderline personality disorder (BPD) as compared to those who are neurotypical. This research finds that while neurotypical …

A Signal Detection Framework For Evaluating The Effects Of Feedback On Stroke Recognition, Jordan D. Bailey

Dissertations

The impact of stroke on the lives of individuals and the healthcare system is considerable. Damage from stroke can be reduced if the treatment is administered at the appropriate time so early recognition is essential. One problem is that strokes present in a variety of ways that sometimes do not fit into the Facial drooping, Arm weakness, Speech difficulties and Time (FAST; American Heart Association, 2019) acronym. Signal detection is one way to measure decision making under conditions of uncertainty (e.g., discriminating stroke symptoms and risk factors from other symptoms, and non-risk factors). The methodology also allows us to consider …

Occupational Therapy’S Role In Addressing Sex And Intimacy For Individuals With Progressive Neuromuscular Disorders, Lindsay N. Richards, Becki Cohill, Katrhyn Ellis, Susan Macdermott

San Marcos, Summer 2020

Individuals with progressive neuromuscular disorders (PND); specifically, Parkinson’s disease (PD), Multiple Sclerosis (MS), Huntington’s Disease (HD), and Amyotrophic Lateral Sclerosis (ALS) often face physical, psychological, and social challenges related to sex and intimacy. Occupational therapy (OT) practitioners are experts in activity analysis and are equipped with unique knowledge of performance skills and client factors to address deficits in occupational performance.

Though there is literature presenting the effects of PND on sexual occupations, a gap exists as it relates to qualitative data from the perspective of the individual and their partners. A mixed-methods survey was conducted examining the lived experience of …