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No description available.

No description available.

This document only includes an excerpt of the corresponding thesis or dissertation. To request a digital scan of the full text, please contact the Ruth Lilly Medical Library's Interlibrary Loan Department (rlmlill@iu.edu).

Much research has focused on students with Asperger’s Syndrome (AS), and much research has also been done on gifted students with special needs, yet very little has been published that looks at the characteristics of students who have been identified as both Gifted and as having Asperger Syndrome (G/AS), and what teachers are doing in the classroom to meet their needs. This is an important topic because this group of twice exceptional students has characteristics of both exceptionalities, and trying to meet the special needs of both groups in the same classroom would likely be a challenge for the teacher. Without understanding what these students are like, and how classroom teachers are trying to meet the needs of this special population, little can be recommended that will help the students succeed. This study examined the academic, social, and behavioral characteristics of three students with G/AS through observations and interviews of students, as well as interviews of their teachers and parents, and records reviews. Using an individual case study approach, information was gathered that was designed to understand the behaviors of specific students with G/AS and what their teachers were doing to meet their needs. By examining characteristics of students with G/AS and their teachers’ practices, information pertinent to an improved understanding of the varying profiles of students with G/AS can be described that may improve decision making and planning when attempting to meet the needs of this population of students.

Thesis (M.D.)—Boston University

Nephrotic syndrome (NS) is the second leading cause of pediatric chronic kidney disease. Pathogenic de novo C-terminal truncating variants in the gene TRIM8 (tripartite motif containing 8) causes a syndrome of NS and epilepsy. In contrast, N-terminal truncating variants are observed in gnomAD control subjects, indicating haploinsufficiency does not cause disease. Based on previously reported TRIM8-TRIM8 interactions, we hypothesized that NS-associated TRIM8 variants may impact wildtype TRIM8 through dominant-negative effects. Alternatively, these variants may have gain-of-function mechanisms in the development of NS. MG132, a 26S proteasome inhibitor, was used to modulate wildtype (WT) and patient variant containing (PV) TRIM8 protein levels. Protein-protein interactions were determined using co-immunoprecipitation of WT- and PV-TRIM8 protein upon transfection of immortalized podocytes with tagged cDNA constructs. Ubiquitination of WT and PV TRIM8 protein was measured by immunoprecipitation and western blotting upon overexpression of tagged Ubiquitin and TRIM8 cDNA constructs in immortalized podocytes. MYC-tagged WT and PV TRIM8 half-lives were determined through cycloheximide (CHX) treatment over a five-hour timed trial. CHX, used to inhibit the elongation step in eukaryotic protein translation, was administered to prevent protein synthesis. CHX-chase assay was performed to determine steady state protein stability of PV-TRIM8 relative to WT. Tagged TRIM8 WT protein levels increased upon treatment with MG132 whereas protein levels of tagged TRIM8 PV proteins were not. Flag-tagged TRIM8 PV proteins, but not flag-tagged WT protein, co-immunoprecipitated with MYC-tagged TRIM8 WT protein. MG132 rescued co-immunoprecipitation of FLAG- and MYC-tagged WT TRIM8 proteins. Tagged TRIM8 WT protein undergoes polyubiquitination, which is impaired by TRIM8 patient variants. PV-TRIM8 had a significantly longer half-life when compared to the WT. TRIM8 PV cause reduced TRIM8 polyubiquitination, impaired 26S proteasomal degradation, and increased TRIM8-TRIM8 interactions, conferring a gain-of-function mechanism of disease. / 2026-03-07T00:00:00Z

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The current study aimed to examine attitudes of sexuality of individuals with CHARGE syndrome by exploring potential barriers that may exist due to differences in the attitudes towards sexuality in parents of individuals with CHARGE syndrome and those attitudes of adults with CHARGE syndrome. Participants included 24 adults with CHARGE syndrome and 31 parents of individuals with CHARGE syndrome. The Attitudes of Sexuality-Individuals with Intellectual Disabilities (ASQ-ID) was completed by all participants and was adapted to address this specific population for the current study. Using a multivariate analysis of variance (MANOVA), four themes of sexuality from the ASQ-ID (i.e., sexual rights, parenting, non-reproductive sexual behavior, and self-control) were examined by comparing differences of mean scores across parents of individuals with CHARGE syndrome and adults with CHARGE syndrome. Further, standard linear regressions were used to determine if age was a predictor of attitudes of sexuality within this population. Results indicated that while there was not a statistically significant difference between parents’ overall scores and adults with CHARGE syndrome’s overall score, statistically significant differences were found in two of the subscales. Specifically, adults with CHARGE syndrome were found to have more positive views in the area of parenting, as compared to parents of individuals with CHARGE syndrome. Likewise, parents of individuals with CHARGE syndrome were found to have more positive views in the area of self-control, opposed to adults with CHARGE syndrome. Further, age was not found to be a predictor of attitudes of sexuality within this population. The results and implications of the findings are discussed, as well as limitations and future directions.

No description available.