Abstract
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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 2430-2436 |
| Number of pages | 7 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 149 |
| Issue number | 11 |
| DOIs | |
| State | Published - Nov 2009 |
Fingerprint
Keywords
- Coping
- Genetic counseling
- Niemann-Pick disease type B
- Psychosocial
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Psychosocial aspects of patients with Niemann-Pick disease, type B. / Henderson, Shelly L; Packman, Wendy; Packman, Seymour.
In: American Journal of Medical Genetics, Part A, Vol. 149, No. 11, 11.2009, p. 2430-2436.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Psychosocial aspects of patients with Niemann-Pick disease, type B
AU - Henderson, Shelly L
AU - Packman, Wendy
AU - Packman, Seymour
PY - 2009/11
Y1 - 2009/11
N2 - 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.
AB - 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.
KW - Coping
KW - Genetic counseling
KW - Niemann-Pick disease type B
KW - Psychosocial
UR - http://www.scopus.com/inward/record.url?scp=70449372647&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=70449372647&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.33077
DO - 10.1002/ajmg.a.33077
M3 - Article
C2 - 19877061
AN - SCOPUS:70449372647
VL - 149
SP - 2430
EP - 2436
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
SN - 1552-4825
IS - 11
ER -