Psychosocial aspects of patients with Niemann-Pick disease, type B

Shelly L Henderson, Wendy Packman, Seymour Packman

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


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 languageEnglish (US)
Pages (from-to)2430-2436
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Issue number11
StatePublished - Nov 2009


  • Coping
  • Genetic counseling
  • Niemann-Pick disease type B
  • Psychosocial

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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