Schonewille, Nadine Isa (2024) How to stay in balance: the impact of an inborn error in adults presenting with neurological symptoms and their partners. Master thesis, Psychology.
|
Text
Master-thesis-how-to-stay-in-balanceNISchonewillelatestversion.pdf Download (1MB) | Preview |
Abstract
Inborn Errors of Metabolism (IEMs) comprise a heterogeneous group of genetic disorders that cause dysfunction of an enzyme or transporter involved in cellular metabolism. Although they often present in early life, in some patients symptoms start during adulthood. In this study, it is investigated how five patients with a late-onset IEM and their five partners stay in balance, by means of questionnaires and semi-structured interviews. The quantitative data of the interviews resulted in four major themes for the patients (consequences of the IEM, coping with the IEM, rarity of the IEM, and perceived care provision) and three major themes for the partners of the patients (relationship, coping with a partner with an IEM, and informal caregiving). The quantitative analyses showed high levels of fatigue in the patients, but this did not lead to impairments in quality of life. Only one of the five patients presented with psychiatric symptoms. All patients in the study had an active coping style, which probably contributes to successfully coping with an IEM. The partners in the study also did not report considerable limitations in daily functioning or quality of life regarding their caregiver’s role. The biggest obstacle for IEM patients and their partners seems to be the lack of knowledge about the disease, therefore this study is of great value to take the first step to develop more knowledge about the psychological consequences of coping with an IEM. Keywords: late-onset inborn errors of metabolism, interviews, caregivers, coping
| Item Type: | Thesis (Master) |
|---|---|
| Supervisor name: | Coenen, M.A. |
| Degree programme: | Psychology |
| Differentiation route: | Clinical Neuropsychology (CN) [Master Psychology] |
| Date Deposited: | 28 Nov 2024 14:48 |
| Last Modified: | 28 Nov 2024 14:48 |
| URI: | http://gmwpublic.studenttheses.ub.rug.nl/id/eprint/4454 |
Actions (login required)
 |
View Item |