Neuroscience and Neurobiology Commons^™

Enhancing Proprioception And Regulating Cognitive Load In Neurodiverse Populations Through Biometric Monitoring With Wearable Technologies, James Hutson, Piper Hutson

Faculty Scholarship

This paper considers the realm of wearable technologies and their prospective applications for individuals with neurodivergent conditions, specifically Autism Spectrum Disorders (ASDs). The study undertakes a multifaceted analysis that encompasses biomarker sensing technologies, AI-driven biofeedback mechanisms, and haptic devices, focusing on their implications for enhancing proprioception and social interaction among neurodivergent populations. While wearables offer a range of opportunities for societal advancement, a discernable gap remains: a scarcity of consumer-oriented applications tailored to the unique physiological and psychological needs of these individuals. Key takeaways underscore the emergent promise of tailored auditory stimuli in workplace dynamics and the efficacy of haptic …

The Genomics Of Autism-Related Genes Il1rapl1 And Il1rapl2: Insights Into Their Cortical Distribution, Cell-Type Specificity, And Developmental Trajectories, Jacob Weaver

MUSC Theses and Dissertations

Neuropsychiatric disorders have a significant impact on modern society. These disorders affect a large percentage of the population: schizophrenia has a world-wide prevalence of 1% and autism spectrum disorders (ASD) affects 1 in 59 school-aged children in the US. There is substantial evidence that most neuropsychiatric disorders have a genetic component. Thus, with the advent of high throughput sequencing much effort has gone into identifying genetic variants associated with these disorders. The emerging picture from these studies is a complex one where hundreds of genes with small effects interact with a varied landscape of common variants to result in disease. …

Neural Mechanisms Of Language Development In Infancy, Scott Huberty, Christian O'Reilly, Virginia Carter Leno, Mandy Steiman, Sara J. Webb, Mayada Elsabbagh, The Basis Team

Publications

Understanding the neural processes underpinning individual differences in early language development is of increasing interest, as it is known to vary in typical development and to be quite heterogeneous in neurodevelopmental conditions. However, few studies to date have tested whether early brain measures are indicative of the developmental trajectory of language, as opposed to language outcomes at specific ages. We combined recordings from two longitudinal studies, including typically developing infants without a family history of autism, and infants with increased likelihood of developing autism (infant-siblings) (N = 191). Electroencephalograms (EEG) were recorded at 6 months, and behavioral assessments at …

Remote Working And Online Education Among Neurodiverse Individuals, Kendall Smith

Emerging Writers

Many jobs and schools closed in response to the Covid-19 pandemic, and a vast majority of students and employees found it difficult to resume their education and careers online; however, those on the neurodiverse spectrum found it much harder. Upon first glance, it was easy to see how frustrating and stressful online schooling was for special needs students. Many had difficulty concentrating during virtual lectures or lacked motivation to stay on task. Likewise, many neurodiverse employees found that at-home distractions were far worse than in-office ones, and the loneliness from staying home all day was jarring. But after pulling research …

Belonging Amidst Bias: Embracing Difference On The Path To Common Humanity, Alyssia Sheikh

Mindfulness Studies Theses

The mindfulness community prioritizes self-awareness and common humanity, but is often entrapped by the idea that oneness is equivalent to sameness. This inclination for objectivity is rooted in the same neural propensities that facilitate bias; the brain is a subjective organ, however, and so neurologically speaking, bias is inevitable. This paper asks: Is striving for sameness separating us from interconnectedness? A human experience is a subjective, diverse, and variable one. The path to shared humanity and social justice co-occurs with increasing cultural humility through mindful awareness and acknowledging our subjective nature. Exploring our neurological tendency to make assumptions, we …

Social Virtual Reality: Neurodivergence And Inclusivity In The Metaverse, James Hutson

Faculty Scholarship

Whereas traditional teaching environments encourage lively and engaged interaction and reward extrovert qualities, introverts, and others with symptoms that make social engagement difficult, such as autism spectrum disorder (ASD), are often disadvantaged. This population is often more engaged in quieter, low-key learning environments and often does not speak up and answer questions in traditional lecture-style classes. These individuals are often passed over in school and later in their careers for not speaking up and are assumed to not be as competent as their gregarious and outgoing colleagues. With the rise of the metaverse and democratization of virtual reality (VR) technology, …

Spanning The Auditory System: Subcortical And Cortical Auditory Processing Of Speech Sounds In Autistic And Typically Developing Children, Erin Stephanie Misato Matsuba

Theses - ALL

Autistic individuals often report atypical sensory processing, particularly in the auditory domain. However, the neural mechanisms that produce such symptoms are poorly understood. The Speech Auditory Brainstem Response (speech-ABR) and the Mismatch Negativity (MMN) are neurophysiological measures that capture different levels of auditory processing, such that the speech-ABR reflects processing at the subcortical level and the MMN measures cortical processing. The present study integrated both techniques in a multimethod approach, which spans both subcortical and cortical processing of speech sounds in a group of autistic children (n = 11) matched on chronological age and non-verbal IQ to their typically developing …

Mice Lacking Full Length Adgrb1 (Bai1) Exhibit Social Deficits, Increased Seizure Susceptibility, And Altered Brain Development, Fu Hung Shiu, Jennifer C. Wong, Takahiro Yamamoto, Trisha Lala, Ryan H. Purcell, Sharon Owino, Dan Zhu, Erwin G. Van Meir, Randy A. Hall, Andrew Escayg

Neuroscience: Faculty Publications

The adhesion G protein-coupled receptor BAI1/ADGRB1 plays an important role in suppressing angiogenesis, mediating phagocytosis, and acting as a brain tumor suppressor. BAI1 is also a critical regulator of dendritic spine and excitatory synapse development and interacts with several autism-relevant proteins. However, little is known about the relationship between altered BAI1 function and clinically relevant phenotypes. Therefore, we studied the effect of reduced expression of full length Bai1 on behavior, seizure susceptibility, and brain morphology in Adgrb1 mutant mice. We compared homozygous (Adgrb1−/−), heterozygous (Adgrb1+/−), and wild-type (WT) littermates using a battery of tests to assess social behavior, anxiety, repetitive …

Gastrointestinal Alterations In Two Mouse Models Associated With Social Behavior Deficits, Gracie Leamon

Undergraduate Honors Theses

The gastrointestinal (GI) tract is a diverse habitat for multiple microorganisms. Disturbances in the microbiome of the GI tract have been associated with psychiatric disorders including autism spectrum disorder (ASD). Individuals with ASD, when compared to neurotypical individuals, have demonstrated differing gut species. Also, it has been shown that microbial transplant therapies impact ASD symptoms in patients. Animal models of behaviors associated with ASD might offer insight for the actual role these microbial differences may occupy regarding symptoms. Unfortunately, ASD does not have an accepted animal model where the GI alterations have been thoroughly explored. In this study, we sought …

Being The Curriculum, Alyssa Hillary Zisk

Ought: The Journal of Autistic Culture

This article is a work of creative non-fiction. Part of the work is my reflections on one systemically awkward experience of introducing my neurodivergence, autism, to my classmates in my graduate program in neuroscience. Part of the work engages with theory and neuroscientific/cognitive findings that I either shared during the presentation or encountered since but would have been relevant to the experience. The two parts are intertwined, because life isn't neatly separable.

Numerical Cognition And Autism Spectrum Traits In Adults, Benjamin Covington

All Graduate Theses and Dissertations, Spring 1920 to Summer 2023

Evidence suggests that individuals with high-functioning autism spectrum disorder (ASD) may be particularly inclined toward math proficiency, especially in adulthood. There is also evidence, however, that many of those with an ASD struggle in math as children compared to their typically-developing peers. These ostensibly inconsistent findings may indicate that individuals with an ASD struggle with number sense, a precursor to formal math, rather than with formal math per se. This account is compatible with evidence of a specific form of neural dysregulation, excitatory/inhibitory imbalance, in ASD that results in reduced signal-to-noise ratios (SNR) for processes that occur in downstream …

Facing Fears When Fearing Faces: Binocular Rivalry Perceptual Alternation And Approach-Avoidance In College-Aged Women With Autistic Traits And A History Of Adverse Experiences, Sarah Kamhout

Undergraduate Honors Theses

Women with Autism Spectrum Conditions (ASCs) may be more likely to experience symptoms of trauma exposure due to greater likelihood of facing adverse childhood experiences (ACEs). In order to gain a better understanding of the neural mechanisms involved with ASC and PTSD in women who experience difficulty with social interactions, I examined the ability of two vision tasks-- Binocular Rivalry Perceptual Alternation (BR) and Visual Approach/Avoidance by the Self Task (VAAST)-- to predict symptoms of both conditions as well as differentiate between them. I also examined differences in response to neutral or emotional (angry or fearful) faces under both paradigms. …

Autism Treatments: Beyond Applied Behavioral Analysis Therapy, Sarah Samosiuk

Honors Projects

This literature review dicusses the efficacy of mindfulness as a potential treatment option for individuals with autism spectrum disorder (ASD). It differs from other treatment options as it works to reduce the symptoms of ASD by reducing the stress and anxiety that cause the symptoms. I discuss the neuroscience behind the autistic mind and give a multitude of studies showing the power of mindfulness. Researchers have only scratched the surface of the possibilities that mindfulness could achieve in this field and hopefully this movement can gain traction so that this kind of help is available to all of those who …

The Influence Of Autism Linked Gene Topoisomerase 3b (Top3b) On Neural Development In Zebrafish, Sydney Doolittle

Honors College Theses

Autism Spectrum Disorder is a class of developmental disabilities characterized by a spectrum of social, communication, and behavioral impairments in affected individuals. Studies have shown these defects stem from abnormal brain development during critical periods during early development. The underlying genetic cause of these impairments is not well understood but is believed to be a combination of a complex pairing of genetic and environmental factors. One of the genetic factors that has been recognized to influence the phenotypic symptoms of ASD is the enzyme topoisomerase 3β (top3β.) Topoisomerases are responsible for the prevention of supercoiling during DNA replication. Top3β is …

Computational Analysis Of Non-Cpg Dna Methylation In The Mammalian Nervous System, Dennis Yawen Wu

Arts & Sciences Electronic Theses and Dissertations

Noncanonical forms of DNA methylation, especially non-CpG DNA methylation, play essential roles in the neuronal epigenome, and have only recently begun to be characterized. While most DNA methylation within mammals is found in a CG context and maintained by DNMT1, neurons contain uniquely high levels of non-CpG methylation, such that the total amounts of methylation in non-CpG contexts equals or surpasses the total amounts of methylation in CG contexts. Non-CpG methylation, unlike CpG methylation, cannot be maintained by DNMT1, and must be established by the de novo methyltransferase DNMT3A.One unique characteristic of non-CpG methylation compared to canonical CpG methylation is …

Book Review: Was Yosef On The Spectrum By Samuel J. Levine, Ian Hale, Ph.D.

Touro Law Review

No abstract provided.

Roles Of Autism Gene Arid1b In Murine Brain Development And Behavior, Amanda L. Smith

Theses & Dissertations

Autism spectrum disorder (ASD) and intellectual disability (ID) are highly prevalent neurodevelopmental disorders characterized by social and communication deficits, stereotyped behaviors, cognitive dysfunction, and deficits in adaptive behaviors. The pathogenesis underlying these disorders remains unknown, and thus no pharmacologic or genetic therapies are currently available. Recent progress in the field has shown that haploinsufficiency of the AT-rich interactive domain-containing 1B (ARID1B) gene is a genetic cause of ASD and ID. Our lab recently developed an Arid1b knockout mouse model to better study its role in the pathogenesis of these disorders. One theory regarding the cause of neurodevelopmental disorders …

An Autism-Causing Variant Misregulates Selective Autophagy To Alter Axon Targeting And Behavior, Tyler Buddell

Theses and Dissertations

Neurodevelopmental disorders cause debilitating disruptions to the cellular mechanisms that underlie development of the brain. Unfortunately, the complexities of neurodevelopmental disorders make them difficult to study, and the molecular mechanisms perturbed by these disorders remain elusive. Better understanding of neurodevelopmental mechanisms, and the related genes involved, will likely yield new insight into neurodevelopmental disorders. A gene that has been associated with a number of neurodevelopmental disorders is the calcium voltage-gated channel subunit alpha1 C (CACNA1C) gene. Common and rare variants of the CACNA1C gene have been associated with autism and other neurodevelopmental disorders including schizophrenia, bipolar disorder and ADHD. However, …

Investigating The Role Of Integrin Beta 3 In Dendritic Arborization In The Supragranular Developing Cerebral Cortex, Zachary Logan Holley

Senior Honors Projects, 2010-2019

Integrin subunits have been implicated in axonal and dendritic outgrowth. In particular, a strong positive association has been found between mutations in integrin beta 3 (Itgb3) and autism spectrum disorder, but little is known about neuronal Itgb3 function in vivo. Many forms of autism spectrum disorder are thought to arise from dysfunctional dendritic arborization and synaptic pruning. Global knockout of Itgb3 in mice leads to autistic-like behaviors. Itgb3^-/- mice also have reduced callosal volume, a key neuroanatomical correlate of autism. Here, we test the hypothesis that Itgb3 is required for normal dendritic arborization in layer II/III pyramidal …

The Role Of Ash1l During Human Neurodevelopment, Anna Bagnell

Senior Theses

Autism spectrum disorders (ASD) are associated with defects in neuronal connectivity and are highly heritable. A significant proportion of ASD cases are of complex genetic etiology; complexity which might reflect the impact of gene-environment interactions. However, there is a gap in our understanding of the mechanisms that underlie the gene-environment interaction in autism complex etiology. Genome wide association studies in large ASD cohorts identified high risk variants associated with autism in genes that regulate histone modifications and remodel chromatin. These findings highlight the relevance of chromatin regulatory mechanisms in the pathology of ASD. Changes in Histone H3 methylation have been …

Effect Of Propionic Acid-Derivative Ibuprofen On Neural Stem Call Differentiation; A Potential Link To Autism Spectrum Disorder, Aseelia Samsam

Honors Undergraduate Theses

Propionic acid (PPA) is a short chain fatty acid that is produced by the human gut microbiome. Propionate, butyrate and acetates are the end products of the fermentation of the complex carbohydrates by human gut friendly microbiome and are being used as sources of energy in our body. PPA is used as a food preservative against molds in various daily products and has been implicated in the pathogenesis of autism. In a recent study we showed that PPA in human neuronal stem cell (NSC) culture increases the astrocyte population and decreases the neuronal number and increases the inflammatory cytokines. In …

Arid1b And Macf1 In Murine Brain Development And Behavior, Jeffrey Jay Moffat

Theses & Dissertations

Intellectual disability (ID) and autism spectrum disorder (ASD) affect between one and three percent of the global population. These disorders represent a significant emotional and financial burden for affected individuals and their families. Treatment for these conditions remains limited because many of the key molecular factors and associated pathogenic mechanisms are still poorly understood.

In this report we examine two genes related to ASD and ID, AT-rich interactive domain-containing protein 1B (ARID1B) and Microtubule-actin crosslinking factor 1 (MACF1). ARID1B is a subunit of the mammalian BRG1/BRM associated factor (BAF) chromatin-remodeling complex, which broadly regulates gene expression. ARID1B also …

Increased Contagious Itch In Children With Autism Spectrum Disorder (Asd), Molly Schineller

Senior Theses and Projects

It has been previously demonstrated that contagion of yawning and laughter is significantly reduced in individuals with Autism Spectrum Disorder (ASD) in comparison to age-matched typically developing (TD) children, but contagion of itch has not been studied in this population. In this study, 55 children with ASD and 55 TD children, all aged 9-14, were exposed to video clips depicting actors yawning, laughing, and itching. In line with previous data, children with ASD demonstrated decreased contagious yawning and laughter in comparison to their TD peers. Surprisingly, they demonstrated increased contagious itch compared to their TD peers. However, susceptibility to contagion …

Using Parent-Identified Strengths Of Autistic Children To Advance Strength-Based Intervention, Angelique Francesca Trigueros

Walden Dissertations and Doctoral Studies

Questions remain about the range of abilities autistic children possess and what constitutes effective treatment. Strength-based intervention contrasts with traditional autistic intervention approaches that focus on children's deficits. Studies on strength-based intervention approaches have not revealed how children's strengths are identified and have not used the insights of parents for this purpose. Neurodiversity serves as the conceptual framework because the tenets of neurodiversity align with those of strength-based approaches and hold that autism is a variation of the human condition rather than a disability. The purpose of this qualitative interpretive phenomenological study was to explore how the parent-identified strengths of …

Blunted Serum 25(Oh)D Response To Vitamin D3 Supplementation In Children With Autism, Conor Kerley, Basil Elnazir, Peter Greally, David Coghlan

Articles

Introduction: Data suggest a potential role for vitamin D in autism spectrum disorder (ASD) prevention and treatment. It is likely that the serum response to vitamin D supplementation contributes to its effectiveness. Multiple factors affect serum vitamin D 25(OH)D response to supplementation.

Methods: We conducted post-hoc analysis of two double-blind, randomized, placebo-controlled trials (RCT) of vitamin D3 supplementation, one RCT involving children with ASD and another involving children with asthma. Both trials were conducted in the same geographic location (Dublin, Ireland, 53°N), conducted over Winter season and utilized the same vitamin D3 dose (2000 IU/day).

Results: We …

Interactive Physical And Cognitive Exercise System (Ipaces™): The Neuropsychological Effects For Youth On The Autism Spectrum, Michaela Haller

Honors Theses

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that affects 1 in 68 children in the United States (Center for Disease Control, 2016). The disorder is characterized by deficits in social interaction, verbal communication, restricted interests, and repetitive behaviors (DSM- V, 2013). While the apparent cause of ASD is biological, the diagnosis remains based on social deficits (Hapé & Frith, 1996). Exercise has been found to improve executive function for children with an Autism Spectrum Disorder, but motivation is an issue and exergames hold promise. This pilot study evaluated an interactive Physical and Cognitive Exercise System (iPACES™), wherein children pedal …

Common Genetic Variants Found In Hla And Kir Immune Genes In Autism Spectrum Disorder, Anthony R. Torres, Thayne Sweeten, Randall C. Johnson, Dennis Odell, Jonna B. Westover, Patricia Bray-Ward, David C. Ward, Christopher J. Davies, Aaron J. Thomas, Lisa A. Croen, Michael Benson

Institute for Disability Research, Policy & Practice Publications

The “common variant—common disease” hypothesis was proposed to explain diseases with strong inheritance. This model suggests that a genetic disease is the result of the combination of several common genetic variants. Common genetic variants are described as a 5% frequency differential between diseased vs. matched control populations. This theory was recently supported by an epidemiology paper stating that about 50% of genetic risk for autism resides in common variants. However, rare variants, rather than common variants, have been found in numerous genome wide genetic studies and many have concluded that the “common variant—common disease” hypothesis is incorrect. One interpretation is …

Funciones Sensoriales En Niños Menores De 3 Años Diagnosticados Con Trastorno Del Espectro Autista (Tea) / Sensory Processing In Toddlers Diagnosed With Autism Spectrum Disorder (Asd), Juliana Gutiérrez, Megan Chang, Erna Imperatore Blanche

Faculty Research, Scholarly, and Creative Activity

Spanish: Las dificultades de procesamiento sensorial en niños con Trastorno del Espectro Autista (TEA) están ampliamente descritos en la literatura principalmente mediante el uso de encuestas a padres y observaciones. Con menor frecuencia se han descrito las dificultades de procesamiento sensorial en niños menores de 3 años de edad que han sido posteriormente diagnosticados con TEA. Este studio retrospectivo está basado en 84 niños (28 diagnosticados con TEA, 28 con retraso en el desarrollo, y 28 niños con desarrollo típico) entre 18 y 36 meses de edad que asistieron a un programa de intervención temprana y cuyos padres completaron el …

Computational Modeling Of Facial Response For Detecting Differential Traits In Autism Spectrum Disorders, Manar D. Samad

Electrical & Computer Engineering Theses & Dissertations

This dissertation proposes novel computational modeling and computer vision methods for the analysis and discovery of differential traits in subjects with Autism Spectrum Disorders (ASD) using video and three-dimensional (3D) images of face and facial expressions. ASD is a neurodevelopmental disorder that impairs an individual’s nonverbal communication skills. This work studies ASD from the pathophysiology of facial expressions which may manifest atypical responses in the face. State-of-the-art psychophysical studies mostly employ na¨ıve human raters to visually score atypical facial responses of individuals with ASD, which may be subjective, tedious, and error prone. A few quantitative studies use intrusive sensors on …

Neuroanatomical Alterations In High-Functioning Adults With Autism Spectrum Disorder, Tehila Eilam-Stock, Tingting Wu, Alfredo Spagna, Laura J. Egan, Jin Fan

Publications and Research

Autism spectrum disorder (ASD) is a pervasive neurodevelopmental condition, affecting cognition and behavior throughout the life span. With recent advances in neuroimaging techniques and analytical approaches, a considerable effort has been directed toward identifying the neuroanatomical underpinnings of ASD. While gray-matter abnormalities have been found throughout cortical, subcortical, and cerebellar regions of affected individuals, there is currently little consistency across findings, partly due to small sample-sizes and great heterogeneity among participants in previous studies. Here, we report voxel-based morphometry of structural magnetic resonance images in a relatively large sample of high-functioning adults with ASD (n = 66) and matched …