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Characterization Of Ptls-Like Phenotypes In A Conditional Rai1 Transgenic Mouse Model And Study Of Rai1 Molecular Function, Lei Cao
Open Access Dissertations
Structural variants are abundant in the genomes of phenotypically normal populations. However, some rare structural variants are found to be disease causing. Potocki–Lupski syndrome (PTLS) is a genomic disorder associated with an 3 Mb duplication in 17p11.2. Clinical features include leanness, intellectual disability, autistic features and developmental deficits. RAI1 gene dosage is associated with the PTLS phenotypes. To understand where and when Rai1 overexpression is detrimental, we generated a mouse that over-expresses Rai1 conditionally in forebrain neurons (I-Rai1). Phenotypic characterization of I-Rai1 mice showed leanness, hyperactivity, and impaired learning and memory ability compared with wild-type littermates. Rai1 overexpression is controlled …
Syndrome Specific And Non-Syndrome Specific Predictors Of Developmental Change In Higher Functioning Children With Autism, Kim E. Ono
Open Access Dissertations
There is a wide range of variability in symptoms and comorbid behaviors among individuals with Autism Spectrum Disorder (ASD). Variability is seen both between individuals at a given point in time and in patterns of change within individuals over time. The goals of the current study were to examine (1) initial levels and rates of change in social reciprocity and internalizing and externalizing behavior problems, and (2) the effects of initial temperament, verbal IQ, and symptom severity on mean initial levels and rates of change in social reciprocity and comorbid internalizing and externalizing behaviors. The sample consisted of higher functioning …