Neuroscience and Neurobiology Commons^™

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 …

Changes In Synaptic Protein Content And Signaling In A Mouse Model Of Fragile X Syndrome, Kelly Birch, Peter W. Vanderklish Phd

Undergraduate Honors Theses

Fragile X Syndrome--the most common inherited form of intellectual disability--is characterized by low IQ, impaired social interaction, hyperactivity and impulsivity, and abnormal physical traits including an elongated face and protruding ears. Nearly half of all children with Fragile X also meet diagnostic criteria for autism spectrum disorder. Fragile X is caused by a trinucleotide repeat expansion on the X chromosome, leading to silencing of the Fragile X mental retardation gene (FMR1) and thus lack of expression of Fragile X mental retardation protein (FMRP). As a key translational suppressor, FMRP is crucial for normal neural development and synaptic function. The current …

Messenger Rna Transport And Translation Regulated By The 3' Utrs Of Dendritic Mrnas And Abnormal Alternative Splicing Of Neuroligin1 In The Fmr1 Ko Mouse Hippocampus, Tianhui Zhu

Dissertations, Theses, and Capstone Projects

Fragile X Syndrome (FXS) is one of the most commonly inherited mental retardations. It is caused by the loss of functional fragile X mental retardation protein (FMRP). Loss of functional FMRP is the most widespread single-gene cause of autism. The most prominent phenotype of FXS patients is an IQ ranging from 20 to 70. FMRP is an RNA binding protein, widely expressed in almost all tissues and highly expressed in brain. As a RNA binding protein, 85-90 % of FMRP in the brain is associated with polyribosomes. Approximately 4 % of total mRNA is associated with FMRP, which functions in …

Neurodevelopmental Defects Associated With Gestational Exposure To Low Levels Of Dbp In Mice, Françoise Sidime

Dissertations, Theses, and Capstone Projects

The etiology of autism is thought to involve the complex interplay among genetic and environmental factors. Patterns of inheritance suggest an epigenetic component to the development of autism. A variety of environmental risk factors are known to induce epigenetic changes in DNA, affecting many genes including those autism-associated genes (AAG). The plasticizer dibutyl phthalate (DBP; CAS 84-74-2) is a developmental and reproductive toxin that causes a broad range of birth defects resulting in neurological impairments.

To date, although the effect of DBP as an endocrine and a reproductive disruptor are established, there are only few studies that address the effects …

From Rainman To Rainmaker: A Presentation Of Jim’S Journey And Rapidly Advancing Technologies: Integrating Proven Behavioral Therapies With Emergent Measurement And Testing Advances Will Result In Transformational Progress In Autistic Individuals, Richard Zajac

CMC Senior Theses

The autism treatment status quo was reviewed and accompanied by a narrative contextualizing past and present progress with my younger brother Jim’s journey with the condition, sharing proposed next steps for bettering the current state of affairs in the space. The impetus for this piece was to share in the lessons of Jim’s life thus far and the revelations of those who have supported him, as well as to determine ways to create more impactful, lasting change in the limited window of early intervention therapy whilst empowering individuals on the spectrum to optimize for their skills and talents rather than …