Behavioral Outputs of Fragile-X Autistic Mice Exposed to Open-Field, Randomized, Short-Term Visual Stimuli

Animal models of different neurological disorders are required for studying the pathophysiology of these diseases, and for potential development of pharmacological and behavioral treatments. The scientific community often uses mouse models for behavior studies due to their powerful genetic tools and low cost. However, subjective measurement techniques are often used when analyzing mice for behavioral traits which often results in discrepancies in results. An automated tracking software would aim to eliminate these discrepancies and subjective analysis. This lab has developed a software program which offered an ability to automatically collect open-field behavioral data with simultaneous on-line analysis. Python, an open sourced programming language, and OpenCV, an open sourced computer vision library, were used to create this novel tracking software. Wild type and transgenic Fragile-X mice were put into an open field environment and allowed to freely interact with it. Relative positioning and cross sectional area of a mouse were automatically tracked and quantified. In addition, an open-field visual stimulation paradigm was used, which is intended to be used to test visual perception, visual learning, and behavior in mice. A statistically significant difference was found between the transgenic and wild type mice in how they respond to both novel and habituated stimulation. The transgenic mice reacted for a longer period of time after novel stimulation with no decrease in response over the 45 minutes of trials while wild type mice stopped responding immediately after stimulation ended and have a decreased response over time. The most likely cause of these responses is a difficulty learning in fragile-X mouse models as well as longer firing time for their neurons

Back to School: Parental Concerns of Children with Hematological and Oncological Conditions During the COVID-19 Pandemic

The Coronavirus Disease 2019 (COVID-19) pandemic has significantly affected the educational system. Historically, children with hematological and oncological conditions have experienced academic challenges. A retrospective chart review was conducted. Charts reviewed included children with oncology or hematology conditions, whose parents expressed educational concerns and were referred to an educational liaison in the Pediatric Hematology, Oncology, and Stem Cell Transplantation Division. The parental concerns for 102 children (M age = 10.03 ± 4.7; 59.8% male; 43.1% Latinx/Hispanic) during the first half of the 2021 to 2022 academic year were extracted. Overall, all parents reported at least one concern with the average reporting 2.24 ± 1.34 (range of 1–6 concerns). The most common general concerns regarded: Individualized Education Programs (IEP) or special education evaluations; 504 accommodations; home instruction; school enrollment. Almost half of the parents had additional concerns they specifically attributed to COVID-19. Children with hematological and oncological conditions were experiencing various needs at this time, which likely have continued implications. It is important for educators, school psychologists, and health care providers to remain cognizant of the educational needs of medically vulnerable populations. Children with hematological and oncological conditions benefit from regular evaluation of their needs, as well as proactive forms of intervention

De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder

Whole-exome sequencing (WES) studies have demonstrated the contribution of de novo loss-of-function single-nucleotide variants (SNVs) to autism spectrum disorder (ASD). However, challenges in the reliable detection of de novo insertions and deletions (indels) have limited inclusion of these variants in prior analyses. By applying a robust indel detection method to WES data from 787 ASD families (2,963 individuals), we demonstrate that de novo frameshift indels contribute to ASD risk (OR= 1.6; 95% CI= 1.0-2.7; p= 0.03), are more common in female probands (p= 0.02), are enriched among genes encoding FMRP targets (p= 6× 10-9), and arise predominantly on the paternal chromosome (p< 0.001). On the basis of mutation rates in probands versus unaffected siblings, we conclude that de novo frameshift indels contribute to risk in approximately 3% of individuals with ASD. Finally, by observing clustering of mutations in unrelated probands, we uncover two ASD-associated genes: KMT2E (MLL5), a chromatin regulator, and RIMS1, a regulator of synaptic vesicle release

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

SummaryWe have undertaken a genome-wide analysis of rare copy-number variation (CNV) in 1124 autism spectrum disorder (ASD) families, each comprised of a single proband, unaffected parents, and, in most kindreds, an unaffected sibling. We find significant association of ASD with de novo duplications of 7q11.23, where the reciprocal deletion causes Williams-Beuren syndrome, characterized by a highly social personality. We identify rare recurrent de novo CNVs at five additional regions, including 16p13.2 (encompassing genes USP7 and C16orf72) and Cadherin 13, and implement a rigorous approach to evaluating the statistical significance of these observations. Overall, large de novo CNVs, particularly those encompassing multiple genes, confer substantial risks (OR = 5.6; CI = 2.6–12.0, p = 2.4 × 10-7). We estimate there are 130–234 ASD-related CNV regions in the human genome and present compelling evidence, based on cumulative data, for association of rare de novo events at 7q11.23, 15q11.2-13.1, 16p11.2, and Neurexin 1

Who am I? : correlation between factors that relate to development of individual personal values

All individuals, whether consciously or not, are constantly developing a personal brand that is unique to them. This personal brand is what differentiates individuals from each other and in order to properly develop a personal brand, individuals must first have a deep understanding of their own personal values. The research in this project will explore the possible relation of three factors thought to relate to an individual’s understanding of his or her personal values. The factors that are analyzed in this project include opportunities available, learned experiences from professional/personal involvement and future aspirations.Thesis (B.?)Honors Colleg

Thematic Content of Video Narratives in Patients and Survivors of Adolescent Cancer

OBJECTIVE: Modern day adolescents and young adults (AYAs) connect with their peers via a number of increasingly novel ways, many of which involve social media. These online relationships are often translated offline to increase one\u27s social standing and quality of in-person relationships. However, when an AYA is diagnosed with a chronic medical condition, like cancer, in-person relationships with peers become difficult and the online component of socialization is all that is left. Video testimonials are a way that some AYAs have chosen to reach out to their peers; however, little is known about what AYAs are saying in these videos and how they are using them to connect with peers on a more intimate level. METHODS: This study examined the content of video testimonials of n = 25 AYA cancer patients and survivors. Transcripts of videos were coded by a team of researchers to identify themes and overall tone. RESULTS: Results suggested that films focused on struggles AYAs faced during their cancer journeys with a number of themes emerging; additionally, a hopeful tone was seen around the overall impact that cancer had on the patient\u27s life. CONCLUSIONS: It may be the case that video testimonials are an effective way to allow AYA patients with a cancer history to explore their thoughts about their illness experience and fill an important social gap not available to them as they undergo treatment

Thematic content of video narratives in patients and survivors of adolescent cancer

OBJECTIVE: Modern day adolescents and young adults (AYAs) connect with their peers via a number of increasingly novel ways, many of which involve social media. These online relationships are often translated offline to increase one\u27s social standing and quality of in-person relationships. However, when an AYA is diagnosed with a chronic medical condition, like cancer, in-person relationships with peers become difficult and the online component of socialization is all that is left. Video testimonials are a way that some AYAs have chosen to reach out to their peers; however, little is known about what AYAs are saying in these videos and how they are using them to connect with peers on a more intimate level. METHODS: This study examined the content of video testimonials of n = 25 AYA cancer patients and survivors. Transcripts of videos were coded by a team of researchers to identify themes and overall tone. RESULTS: Results suggested that films focused on struggles AYAs faced during their cancer journeys with a number of themes emerging; additionally, a hopeful tone was seen around the overall impact that cancer had on the patient\u27s life. CONCLUSIONS: It may be the case that video testimonials are an effective way to allow AYA patients with a cancer history to explore their thoughts about their illness experience and fill an important social gap not available to them as they undergo treatment