期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 149A, 期 11, 页码 2430-2436出版社
WILEY
DOI: 10.1002/ajmg.a.33077
关键词
Niemann-Pick disease type B; psychosocial; coping; genetic counseling
资金
- Niemann-Pick Disease Foundation
- Mt. Zion Health Fund
- Jewish Community Federation
- Mead Johnson Corporation
- Nutricia North America
- BioMarin Corporation
- State of California Genetic Disease Branch
- Amicus Therapeutics
- Genzyme Corporation
Health-care providers have only begun to understand the medical aspects of Niemann-Pick disease type B (NPDB), a relatively rare disease. Even less information is known about the psychological effects of living with NPDB. Patients with NPDB and their families face numerous psychological stressors including extensive medical testing, uncertainty of diagnosis, living and coping with a chronic illness, and grief and bereavement surrounding this progressively debilitating, and, ultimately, fatal disease. We used a qualitative case study approach to explore the human experiences of NPDB patients and families. To assess psychosocial adjustment, all participants were administered a semi-structured, qualitative interview, as well as quantitative measures. Five major findings emerged: (1) limited physical activity, social isolation, and peer rejection were identified as significant stressors; (2) stressors had a specific impact during the age span of 10-16 years; (3) parents and adult patients expressed frustration regarding the lack of available information and treatment; (4) patients described close family relationships as a way of coping with illness; and (5) adult patients identified early medical experiences as having a considerable psychological impact. The results of this investigation highlight and expand awareness of the psychological and social needs of NPDB patients and families. This study calls for a collaborative, multidisciplinary effort in the treatment of these patients and their families. C) 2009 Wiley-Liss, Inc.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据