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An Exploration Of The Genetic Counselor-Patient Relationship Following A Life-Limiting Prenatal Diagnosis, Sabrina Anderson

Theses and Dissertations

The proposed Reciprocal-Engagement Model of genetic counseling is comprised of five core tenets with the relationship between the genetic counselor and patient being central to the process and success of genetic counseling. This study sought to explore the relationship between the genetic counselor and patient during and after a prenatal diagnosis of a “life-limiting” diagnosis that resulted in a major loss (termination, stillbirth/miscarriage, or neonatal death). Eight genetic counselor and patient pairs were individually/separately interviewed about their mutual relationship and asked about the development and maintenance of the relationship, the contributing factors, and the long-term effects on both the genetic …

Goal Achievement In Young Adults With Asperger Syndrome And High Functioning Autism, Melissa Racobaldo

Theses and Dissertations

Purpose: This study aimed to evaluate perspectives of young adults with Asperger syndrome (AS) and High Functioning Autism (HFA) regarding supports and services, future goals, and confidence in their success. The goal of this study was to identify valuable supports and areas in which this support was lacking. Identifying areas of support for young adults with AS/HFA transitioning into adulthood aids in providing consistent services for successful goal achievement. The study has value among genetic counselors as the discovery of genetic etiologies of autism has led to referral of families with ASD to the genetics clinic. Methods: Young adults with …

Exploring Communication Patterns In The Discussion Of Maternal Pku Syndrome Between Parents And Daughters, Hannah Beth Andrews

Theses and Dissertations

Maternal PKU syndrome is the collection of features and birth defects that arise from uncontrolled phenylalanine levels in a pregnant woman with phenylalanine hydroxylase (PAH) deficiency, previously known as phenylketonuria (PKU). Currently, the literature is lacking in exploring what young women are being told about maternal PKU syndrome. In this study, communication patterns between parents and their daughters about maternal PKU syndrome were investigated through an online survey completed by parents. The survey assessed parents’ level of comfort with this topic, the information they discussed with their daughter and the resources they accessed. Followup interviews were conducted with participants to …

Evaluating The “Family-Centered” Approach Of Pediatric Multidisciplinary Down Syndrome Clinics: A Parents’ Perspective, Devon A. Haynes

Theses and Dissertations

Down syndrome is the most common genetic cause of intellectual disability. Individuals with Down syndrome usually display mild to moderate intellectual disability, developmental delay, characteristic facial features, and an increased risk for birth defects and various medical problems. Multidisciplinary clinics were established to address the multi-system health concerns for Down syndrome, increase adherence to medical management guidelines, and provide coordinated and comprehensive care for the patient. Research has examined the beneficial effect of a multidisciplinary approach to patient care and medical outcomes; however, no studies have been done which evaluate the psychosocial aspect of the care provided.

We hypothesized that …