Matching Items (3)
Filtering by
- Creators: School of Life Sciences
Description
The knowledge of medical genetics is currently used with prenatal testing, and the advancements in the field of behavioral genetics may someday allow for its use with prenatal testing as well. The use of prenatal procedures for medical phenotypes has its own implications and should these techniques be used for behavioral phenotypes, such implications can also apply. The complexity of behavior in terms of the factors that may affect it, along with the way it is conceptualized and perceived, adds further implications for prenatal testing of it. In this thesis, I discuss the qualitative, quantitative, and historical facets of prenatal testing for medical and behavioral phenotypes and the undercurrent of eugenics. I do so by presenting an example of the medical phenotype (cystic fibrosis) as a case for envisioning the implications of medical phenotypes before delving into examples of behavioral phenotypes (aggression, impulsivity, extraversion, and neuroticism) in order to explore the implications shared with those for medical phenotypes as well as those unique to it. These implications then set the foundation for a discussion of eugenics, and the considerations for how behavioral genetics with prenatal testing may give way to a modern form of it.
ContributorsMinai, Mandana (Author) / Maienschein, Jane (Thesis director) / Robert, Jason (Committee member) / Magnus, David (Committee member) / Barrett, The Honors College (Contributor) / School of Life Sciences (Contributor) / Department of Psychology (Contributor)
Created2014-05
Description
Epilepsy is a complex neurological disease that affects one in twenty-six people. Despite this prevalence, it is very difficult to diagnose. EpiFinder, Inc. has created an app to better diagnose epilepsy through the use of an epilepsy focused ontology and a heuristic algorithm. Throughout this project, efforts were made to improve the user interface and robustness of the EpiFinder app in order to ease usability and increase diagnostic accuracy. A general workflow of the app was created to aid new users with navigation of the app’s screens. Additionally, numerous diagnostic guidelines provided by the International League Against Epilepsy as well as de-identified case studies were annotated using the Knowtator plug-in in Protégé 3.3.1, where new terms not currently represented in the seizure and epilepsy syndrome ontology (ESSO) were identified for future integration into the ontology. This will help to increase the confidence level of the differential diagnosis reached. A basic evaluation of the user interface was done to provide feedback for the developers for future iterations of the app. Significant efforts were also made for better incorporation of the app into a physician’s typical workflow. For instance, an ontology of a basic review of systems of a medical history was built in Protégé 4.2 for later integration with the ESSO, which will help to increase efficiency and familiarity of the app for physician users. Finally, feedback regarding utility of the app was gathered from an epilepsy support group. These points will be taken into consideration for development of patient-based features in future versions of the EpiFinder app. It is the hope that these various improvements of the app will contribute to a more efficient, more accurate diagnosis of epilepsy patients, resulting in more appropriate treatments and an overall increased quality of life.
ContributorsCsernak, Lidia Maria (Author) / Crook, Sharon (Thesis director) / Greger, Bradley (Committee member) / Yao, Robert (Committee member) / School of Life Sciences (Contributor) / School of International Letters and Cultures (Contributor) / Barrett, The Honors College (Contributor)
Created2016-12
Description
Autism Spectrum Disorder (ASD) is a lifelong neurodevelopmental disorder that is becoming increasingly common. Autism does not yet have a known etiology, nor a definitive diagnostic test, thus making diagnosis a difficult and rarely uniform task. Currently, ASD is behaviorally diagnosed based on criteria defined by the American Psychiatric Association in the Diagnostic and Statistical Manual of Mental Disorders (DSM). Recently, a change was made in the criteria from more lenient criteria in DSM-IV-TR, to more narrow criteria laid out by the DSM-V, which supersedes the DSM-IV-TR. This drastic change raised many questions and debates about which set of criteria are better. The more lenient criteria offers a more inclusive diagnosis giving greater access to therapies; while the narrow diagnostic criteria excludes some individuals, creating a more uniform diagnosis that's easier to use in research. This thesis analyzes the change in diagnostic criteria from the DSM-IV-TR to the DSM-V and the effects of these changes on the practices of diagnosis. In addition, it explores the implications of this change for the families of children with autism and for those involved in autism research, examining their respective opinions and interests pertaining to narrow verses broad diagnostic criteria. Building on this analysis, the thesis offers recommendations about diagnostic criteria should be set. It argues that the wellbeing of patients takes priority over the interests of researchers, and thus diagnosis should be done in a way that offers the best prognosis for all children who suffer from autistic symptoms.
ContributorsBremer, Michelle Nichole (Author) / Hurlbut, Ben (Thesis director) / Robert, Jason (Committee member) / Brian, Jennifer (Committee member) / School of Life Sciences (Contributor) / Barrett, The Honors College (Contributor)
Created2016-12