Developmental Neuroscience 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. …

The Predictive Influence Of Challenging Behavior On Parent Stress In Young Children With Autism Spectrum Disorder, Paige Weir

LSU Master's Theses

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication, restricted interest, and repetitive patterns of behavior. Individuals with ASD also exhibit challenging behaviors that affect parent and caregiver stress directly. However, researchers have not yet examined the predictive influence of specific challenging behaviors on parent stress, particularly in young children (i.e., infants and toddlers) with ASD. Therefore, the current study expands existing literature by a) investigating the influence that challenging behaviors of young children with ASD have on parent stress and b) examining the unique contribution that each behavior (i.e., aggressive/disruptive behavior, stereotypy, and self-injurious …

Amygdala And Neocortical Structural Volume Analysis In The Shank3b Mutant Mouse Model Of Autism Spectrum Disorder, Preet Sawhney

Honors Scholar Theses

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that is characterized by abnormal social behavior, deficits in communication, and motor stereotypy. The SHANK3 gene, responsible for the generation of a scaffolding protein that is integral for the development of synapses, has been identified as one of the primary candidate genes implicated in the disorder. Shank3B is the rodent homolog for this gene. Research has shown that when this gene is disrupted in rodent models (e.g., via knock-out (KO)), ASD-like behaviors result. These include deficits in social interaction, increased anxiety, and repetitive self-grooming. The current study aimed to identify a physiological …

Neurostructural Organization And Neocortical Projecting Neuron Distribution In A Mouse Model Of Timothy Syndrome-Mediated Autism Spectrum Disorder, Aiden L. Ford

Honors Scholar Theses

Aims: This study investigates the nuanced effect of the CACNA1C mutation on neurocognition and neurodevelopment via an extended study of the Timothy Syndrome (TS) mediated Autism Spectrum Disorder (ASD) mouse model – TS2-neo. It includes: (1) an expanded assessment of the TS2-neo behavioral phenotype, and (2) a comprehensive histological analysis of cortical structural and laminar features.

Methods: 24 age-matched male mice – 12 TS2-neo (B6.Cg-Cacna1c^tm2Itl, knock-in G406R mutation), 12 WT (C57BL/6J) – were tested on paradigms examining motor, socio-communicative and cognitive abilities. Neural tissue was processed for either volumetric analysis through Nissl stain (8 TS2-neo, 8 WT) or …