Date of Award

1-1-2010

Document Type

Campus Access Thesis

Department

Genetic Counseling

First Advisor

Janice G. Edwards

Abstract

Transition is a critical time for adolescents and young adults living with a genetic disorder. During this time, an adolescent faces the demands of having to gain a more complete understanding of his or her disorder and its clinical features, learning how to effectively manage his or her medical care independently, learning the disorder's implications for his or her future, and transferring from a pediatric medical setting into adult medicine. Continual progress towards accomplishing these tasks can eventually lead to medical management independence. However, studies on transition have continually highlighted a need for improvement regarding transition for adolescents living with a genetic disorder. Neurofibromatosis type I (NF1) is a complex disorder that can affect multiple systems―predominantly the nervous, cutaneous, and skeletal systems. NF1 is a common genetic disorder affecting approximately 1 in every 3000 to 3500 individuals and is typically diagnosed during childhood. This study gained perspectives from parents of adolescents with NF1 in order to understand their experiences with the process of transition to independence with medical management. The study focused on adolescent NF1 patients' preparedness for transition and influential factors. This study also sought to better understand how health care providers, specifically genetic counselors, could facilitate this process to promote a successful transition outcome. Thirty-six parents completed an online survey, providing quantitative data (via Likert-scale and multiple choice questions) and qualitative data (through open-ended responses boxes for parent comments). A wide range of knowledge among adolescents with NF1 about their disorder was observed, ranging from "not knowledgeable" to "very knowledgeable." A positive trend between adolescent knowledge of NF1 and involvement with various health care tasks as well as independence in managing such tasks were noted. The results showed a negative correlation between adolescent independence and parental concern about transition issues; indicating that the parents in this study reported lower levels of concern regarding various transition issues when their adolescent with NF1 is more independent with managing their own health care. Adolescent self-confidence correlated with lower levels of parental concern about transition issues. Parental confidence related positively to adolescent self-confidence. A majority of parents foresaw being highly involved in his or her adolescent's health care management after transition. Additionally, most parents felt they would be ready to transfer medical management responsibilities to their adolescent before the adolescent was ready and willing to take on these new responsibilities. Approximately half of participants (53%) stated that their adolescent had seen a genetic counselor at least once. The majority of parent's indicated that their adolescent had only one genetic counseling appointment, most of which occurred during childhood. Likewise, most parents stated they did not remember much about their experience with genetic counseling or were displeased with the services provided. These results indicate the need for improvement in both the amount and the quality of transition services during adolescence for patients with NF1. In addition, this study indicates that genetic counselors are vastly uninvolved in transition process of adolescents with NF1. Genetic counselors are well equipped to provide educational services about NF1 and to attend to the psychosocial needs of adolescents with NF1 during transition. Genetic counseling can facilitate the development of skills that promote medical management independence thus helping to ensure a more successful transition and to instill the life-long ability to successfully attend to the demands of NF1.

Rights

© 2010, Leigh Davidson

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