{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T08:10:41Z","timestamp":1790755841793,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2009,10,28]],"date-time":"2009-10-28T00:00:00Z","timestamp":1256688000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Health\u2010care providers have only begun to understand the medical aspects of Niemann\u2013Pick 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\u2010structured, 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\u201316 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. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33077","type":"journal-article","created":{"date-parts":[[2009,10,29]],"date-time":"2009-10-29T20:47:54Z","timestamp":1256849274000},"page":"2430-2436","source":"Crossref","is-referenced-by-count":29,"title":["Psychosocial aspects of patients with Niemann\u2010Pick disease, type B"],"prefix":"10.1002","volume":"149A","author":[{"given":"Shelly L.","family":"Henderson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy","family":"Packman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seymour","family":"Packman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,10,28]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01537734"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7610.1990.tb02274.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1300\/J077v07n03_05"},{"key":"e_1_2_6_5_1","first-page":"315","article-title":"The adolescent with an inborn error of metabolism: Medical issues and transition to adulthood","volume":"13","author":"Enns G","year":"2002","journal-title":"Adolesc Med"},{"key":"e_1_2_6_6_1","volume-title":"Identity: Youth and crisis","author":"Erikson EH","year":"1968"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1300\/J010v31n04_03"},{"key":"e_1_2_6_8_1","volume-title":"Measure of psychosocial development","author":"Hawley GA","year":"1988"},{"key":"e_1_2_6_9_1","first-page":"13","article-title":"The effect of chronic illness on the psychological health of family members","volume":"6","author":"Holmes AM","year":"2003","journal-title":"J Mental Health Policy Econ"},{"key":"e_1_2_6_10_1","first-page":"679","article-title":"Earning trust and losing it: Adolescents' views on trusting physicians","volume":"4","author":"Klostermann BK","year":"2005","journal-title":"J Fam Pract"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-3016"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/jpepsy\/jsh023"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1053\/rmed.2000.0942"},{"key":"e_1_2_6_14_1","volume-title":"Theories of adolescence","author":"Muuss RE","year":"1988"},{"key":"e_1_2_6_15_1","unstructured":"National Niemann\u2010Pick Disease Foundation.2005. 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