Life Sciences Commons^™

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. …

Movement As Medicine: Dance/Movement Therapy For Individuals With Autism, Parkinson’S Disease, And Cancer, Alessia Zanobini

CMC Senior Theses

Dance/movement therapy (D/MT) is the psychotherapeutic use of expressive, creative movement to support holistic well-being. D/MT views the human being as a single body-mind unit and movement as a manifestation of life experiences. While typically practiced as a mental health intervention, D/MT can be adapted for a variety of populations. This thesis evaluates scientific data for the non-traditional use of D/MT for three conditions: autism, Parkinson’s disease, and cancer. For individuals on the autism spectrum, D/MT can strengthen attunement skills, provide creative communication outlets, and relieve harmful physical manifestations of autism. For individuals with Parkinson’s disease, D/MT can simultaneously ease …

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 …

The Default Network And Autism Spectrum Disorder: Characterizing Sub-Networks And Behavioral Correlates, Alyssa K. Kozlowski

Theses and Dissertations

The default network (DN), and specifically its sub-networks default network A (DN A) and default network B (DN B), has been strongly implicated in social cognition. This study examined its role in predicting social behavior, and also differences that may exist across diagnostic groups that may explain discrepancies in social cognition and behavior. One of the popular methods of study is functional connectivity, or analyzing correlated activity in the brain. Autism Spectrum Disorder (ASD) is a disorder characterized by social impairment and abnormal social behavior. To date, much of the functional connectivity research in ASD has focused on global connectivity, …

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 …

Pre-Pulse Inhibition In Mutated Mice: Studying Compromised Microglial Cells To Discover New Genetic Connections To Autism, Bailey R. Kramarik

Senior Honors Projects, 2020-current

Microglial cells “play a pivotal role in refining neural networks during early critical periods” (Gabriele & Gray, 2020, p. 1). A disturbance in the functioning of these microglial cells contribute to specific characteristics of some neurodevelopmental disorders- including autism spectrum disorder. In this study, we used a mouse model to study disruptions in cell activity, as understanding the biological and genetic background of autism spectrum disorder could help us provide better treatment and therapy options to those diagnosed.

The mutated mice in this experiment have microglial cells with “compromised fractalkine signaling” (Gabriele & Gray, 2020, p. 4-5). We studied multimodal …

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 …

The Effects Of Aquatic Therapy On The Motor Skill And Behavioral Development Of Children With Autism Or Autism Spectrum Disorder, Elysian Majeske

Honors Theses

An experiment was done on the benefits of aquatic therapy for children with autism or autism spectrum disorder. Swim lessons were administered to a nine-year-old child with autism twice a week for eight weeks over the summer. The child's motor movements and behavior were analyzed and recorded every two weeks. The child's response to touch, instructions and facial expressions were measured on a 1-5 scale. The distance kicked with a kickboard, time spent with face in the water, number of stimming motions, and number of echolalia repetitions were recorded with tally marks. Results were analyzed and compared to previous research …

The Effects Of Video Modeling And Video Feedback On Object Control Skills For Individuals With Autism Spectrum Disorder, Miguel Pelayo

Cal Poly Humboldt theses and projects

The purpose of this study was to analyze the impact of video modeling combined with immediate video feedback on the performance of object control skills used in the game of basketball for students with autism spectrum disorder (ASD). Two male students aged 12 and 13, who had a previous diagnosis of ASD and attended a middle school in Northern California were recruited for this study. A multiple baseline across behaviors single case design was used to determine the impact of the interventions on the performance of the basketball skills. Results from this study suggest that the combined use of video …

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 …

An Investigation Of Upper Extremity Motor Impairments In Children Diagnosed With Autism Spectrum Disorder: Motor Planning Vs Motor Execution, Patrick Anthony Cereceres

Open Access Theses & Dissertations

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder typically diagnosedwhen a child displays social and communication impairments, repetitive behaviors, and rhythmic movements like hand flapping. This disorder is unique because of the high variability of symptoms displayed between each individual who is diagnosed. Because of this, no neurological or physiological test exists to diagnose a child with ASD. Current diagnostic tests are various forms of interviews or observations which an experienced clinician must administer. While these tests have been instrumental in diagnosing children with ASD, many go undiagnosed, which can be detrimental as they transition into adulthood. Current literature indicates …

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. …

Neuroinflammation, Peripheral Inflammation And Gut Microbiome Profiles In Male Mice From Two Proposed Mouse Models Of Social Behavior Deficits, Sarah Parkinson

Electronic Theses and Dissertations

Autism spectrum disorder (ASD) is a neurodevelopmental disorder marked by social deficits and repetitive actions. A communication pathway exists between the brain and gut called the gut-brain axis. It is thought that gut bacteria can secrete signaling molecules, triggering inflammation across the body. These studies attempt to determine if markers are expressed in two mouse models of ASD behaviors, BTBR and a valproic acid model. Immunohistochemistry of ionized calcium binding adaptor molecule 1 from male mouse brain tissue showed no microglial activation in any group. Cytokine analysis did exhibit an increase in interleukin 1 (IL-1) in male adult mice only. …

Using Zebrafish As A Model System For Studying The Autism Risk Gene Adnp In Early Embryonic Development, William Theune

Master's Theses

Autism Spectrum Disorders (ASD) are a group of debilitating neurodevelopmental disorders, estimated to affect 1 in 54 children. Despite the identification of many autism-risk genes, the underlying mechanisms for ASD remain unclear. One of the most common forms of ASD is associated with de novo mutations in the ADNP gene (Activity-Dependent Neuroprotector Homeobox; accounting for 0.17% of ASD individuals). Termed ADNP syndrome, this disorder is characterized by intellectual disability, facial dysmorphia, and is comorbid with multiple organ system deficits. We set out to use zebrafish as a model organism to gain mechanistic insights into ADNP function. Zebrafish have the advantage …

Effects Of Sex And Autism On Oxytocin Receptors In The Substantia Nigra Of The Human Brain, Kip Dooley

Undergraduate Honors Capstone Projects

Oxytocin, a hormone present in the mammalian brain, has been shown to be a vital component of social function in animals and may have a role in the social deficits associated with Autism Spectrum Disorder in humans. Based on previous studies from our lab, there are oxytocin receptors in the human substantia nigra, a basal ganglia structure in the midbrain that is important in both movement and reward pathways. The substantia nigra contains two subsections that are defined by the neurotransmitters they contain: the pars compacta, which is dopaminergic, and the pars reticulata, which is GABAergic. By localizing oxytocin receptors …

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 …

The Effect Of Aerobic Exercise On Children With Autism Spectrum Disorder: A Systematic Literature Review, Delaney K. Cole

Honors Undergraduate Theses

The purpose of this study was to examine the effects that aerobic exercise activities can have on various stereotypical behaviors found in children on the autism spectrum. Autism spectrum disorder (ASD) is a lifelong, developmental disability that can impact how an individual communicates, behaves, as well as moves. Physical activity has long been implemented in the treatment plans of children with diagnoses along the autism spectrum; However, specific data relating to the impact of aerobic activity is quite scattered. Aerobic activities require the body to be able to take oxygen from the air around it and circulate it through the …

Autism & Autoimmunity, Clarissa Nelson

Undergraduate Honors Capstone Projects

My research was for the Honors Capstone, and consisted of familiarizing myself with the vast amount of research in the fields of autism and autoimmunity and how the two may be connected, then going on to design a new project to help acquire more information where these two fields overlap. The official abstract I have written for this new project goes as follows: Our proposed research project is focused primarily in the fields of autism and autoimmunity, and hopes to uncover more evidence that these two fields are related. We believe that autism is an autoimmune disease, and our project …

Gut Pathophysiology In Mouse Models Of Social Behavior Deficits, Kyla Scott

Undergraduate Honors Theses

Autism spectrum disorders (ASD) encompass neurodevelopment disorders characterized by atypical patterns of development that impact multiple areas of functioning beginning in early childhood. The etiology of ASD is unknown and there are currently no preventative treatment options. Gastrointestinal symptoms are commonly associated comorbidities. The microbiota-gut-brain axis is a multidirectional communication chain that connects the central and enteric nervous system that relates brain function to peripheral intestinal functions. Changes within this axis have been postulated in ASD. For example, the “leaky gut theory” proposes that chronic inflammation is linked to alterations in the bacterial profiles of the gut microbiome and subsequent …

The Influence Of Over-Ground Versus Treadmill Walking On Gait Mechanics In Children With Autism Spectrum Disorder, Emily Ann Chavez

Open Access Theses & Dissertations

Treadmill (TM) walking may be a way to combat obesity and socio-behavioral barriers associated with children with Autism Spectrum disorder (ASD), though tripping-risk has not yet been assessed for this population through use of spatial-temporal gait analysis. The aim of this project/study was to examine spatial-temporal walking mechanics and lower extremity tripping descriptors between over ground (OG) and TM gait conditions in children with ASD compared to children with neurotypical development (NT). Kinematics data were obtained through tridimensional motion analysis where participants, 10 children with ASD and 9 age- and sexmatched NT controls, were outfitted with retroreflective markers on their …

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 …

The Effect Of Yoga On The Total Number Of Off-Task Behaviors For Children With Autism Spectrum Disorder, Ashley N. Jovick

Cal Poly Humboldt theses and projects

BACKGROUND: Autism spectrum disorder (ASD) is a complex developmental disability. Signs will usually appear during early childhood and affect a person’s ability to communicate and interact with others. ASD is defined by a certain set of behaviors and is a ‘spectrum condition’ that affects individuals differently and to varying degrees. Two major behaviors associated with ASD are poor motor skills and sensory activities.

PURPOSE: The purpose of this investigation is to examine the effectiveness of yoga on reducing off-task behaviors in children with Autism Spectrum Disorder.

METHODS: Off-task behavior data will be taken in Baseline and Intervention Phases. Video analysis …

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 …

The Effectiveness Of Using Video Modeling Techniques To Improve Motor Skills For Preschool Children With Autism Spectrum Disorders, Atya Abdullah Hadadi

Graduate Theses and Dissertations

Beside the main syndromes of socialization and communication for individuals with autism spectrum disorders, they also have impairments in motor skills, such as ball skills (catching and throwing) and postural stability (standing and walking balance). The main objective of this dissertation is to improve motor skills for preschooler children with ASD through use of video-modeling techniques. A secondary objective of this research was to find a correlation between the development and improvement of ball skills and balance tasks. Twenty-six children with ASD were divided into two groups. Twenty-six children with ASD from 3-5 years old participated in two groups: one …

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 …

Relationship Between Perceived And Actual Exertion And Enjoyment Of Exercise In Individuals With Autism, Nicole Fiscella

Masters Theses, 2010-2019

Fiscella, N.A., Moran, T.E., Wigglesworth, J.K., and McKay, C.A. Relationship between Perceived and Actual Exertion and Enjoyment of Exercise in Individuals with Autism. Purpose: The purpose of this study was to examine the relationship between perceived exertion, actual exertion and enjoyment of exercise in individuals with Autism Spectrum Disorder (ASD). Methods: A total of 16 participants (12 males and 4 females) between the ages of 5 and 38 who were diagnosed with ASD participated in the study. The intervention lasted 10 weeks and consisted of participation in one of James Madison University’s Overcoming Barriers hour long physical activity programs. Heart …