Nature and Impact of Health Status in Persons with a Mutation in the HD Gene Prior to Clinical Diagnosis

2.50
Hdl Handle:
http://hdl.handle.net/10755/160909
Type:
Presentation
Title:
Nature and Impact of Health Status in Persons with a Mutation in the HD Gene Prior to Clinical Diagnosis
Abstract:
Nature and Impact of Health Status in Persons with a Mutation in the HD Gene Prior to Clinical Diagnosis
Conference Sponsor:Midwest Nursing Research Society
Conference Year:2006
Author:Williams, Janet, PhD, MA, PNP, FAAN
P.I. Institution Name:University of Iowa
Title:Professor
Contact Address:College of Nursing, Nursing Building, Iowa City, IA, 52242, USA
Contact Telephone:319-335-6074
Co-Authors:Rebekah J. Hamilton, PhD, RN; Debra Schutte, PhD, RN; Meghan L. McGonigal-Kenney, BSN, RN; Kathleen Sparbel, PhDc, MS, APRN, BC; Emily Birrer, Research Assistant; Rose Marie Friedrich, MA, RN; Toni Tripp-Reimer, PhD, RN, FAAN; Diane Rehak, MSN, BSN, RN; S
Huntington Disease, an autosomal dominant neurodegenerative disorder characterized by specific motor movements, also includes alterations in cognitive and behavioral function. Psychiatric symptoms are typically a component of this condition. What is less well understood are the early signs of HD, prior to the onset of characteristic motor movements. The impact of these changes upon family members has not been described. The aim of this study is to identify the nature and impact of the health status of persons with a mutation in the Huntington gene prior to clinical diagnosis, as described by family members. Fifteen adult family members (3 male, 12 female) of persons who had a positive HD gene test for HD, but had not been diagnosed, provided data. Fourteen participated in focus groups conducted in 5 sites in the USA and Canada, and one participant provided data in an individual interview. Fourteen participants were spouses, and one was a parent. NVivo was used to organize the data. Data were analyzed through the method described by Knafl and Webster, and common themes within and across groups were identified. Participants reported observations of irritable behavior, aggression, and depression. Additional observations include concerns regarding alterations in daily activities and social functioning. Family members devised strategies to support declining cognitive and behavioral function in persons with the HD gene mutation. They also attempted to interpret the meaning of alterations in health status. Promoting physical and emotional health of family members, who are future caregivers, may be enhanced by targeted interventions. Research was supported by R01NR07970 to Janet K. Williams.
Repository Posting Date:
26-Oct-2011
Date of Publication:
17-Oct-2011
Sponsors:
Midwest Nursing Research Society

Full metadata record

DC FieldValue Language
dc.typePresentationen_GB
dc.titleNature and Impact of Health Status in Persons with a Mutation in the HD Gene Prior to Clinical Diagnosisen_GB
dc.identifier.urihttp://hdl.handle.net/10755/160909-
dc.description.abstract<table><tr><td colspan="2" class="item-title">Nature and Impact of Health Status in Persons with a Mutation in the HD Gene Prior to Clinical Diagnosis</td></tr><tr class="item-sponsor"><td class="label">Conference Sponsor:</td><td class="value">Midwest Nursing Research Society</td></tr><tr class="item-year"><td class="label">Conference Year:</td><td class="value">2006</td></tr><tr class="item-author"><td class="label">Author:</td><td class="value">Williams, Janet, PhD, MA, PNP, FAAN</td></tr><tr class="item-institute"><td class="label">P.I. Institution Name:</td><td class="value">University of Iowa</td></tr><tr class="item-author-title"><td class="label">Title:</td><td class="value">Professor</td></tr><tr class="item-address"><td class="label">Contact Address:</td><td class="value">College of Nursing, Nursing Building, Iowa City, IA, 52242, USA</td></tr><tr class="item-phone"><td class="label">Contact Telephone:</td><td class="value">319-335-6074</td></tr><tr class="item-email"><td class="label">Email:</td><td class="value">janet-williams@uiowa.edu</td></tr><tr class="item-co-authors"><td class="label">Co-Authors:</td><td class="value">Rebekah J. Hamilton, PhD, RN; Debra Schutte, PhD, RN; Meghan L. McGonigal-Kenney, BSN, RN; Kathleen Sparbel, PhDc, MS, APRN, BC; Emily Birrer, Research Assistant; Rose Marie Friedrich, MA, RN; Toni Tripp-Reimer, PhD, RN, FAAN; Diane Rehak, MSN, BSN, RN; S</td></tr><tr><td colspan="2" class="item-abstract">Huntington Disease, an autosomal dominant neurodegenerative disorder characterized by specific motor movements, also includes alterations in cognitive and behavioral function. Psychiatric symptoms are typically a component of this condition. What is less well understood are the early signs of HD, prior to the onset of characteristic motor movements. The impact of these changes upon family members has not been described. The aim of this study is to identify the nature and impact of the health status of persons with a mutation in the Huntington gene prior to clinical diagnosis, as described by family members. Fifteen adult family members (3 male, 12 female) of persons who had a positive HD gene test for HD, but had not been diagnosed, provided data. Fourteen participated in focus groups conducted in 5 sites in the USA and Canada, and one participant provided data in an individual interview. Fourteen participants were spouses, and one was a parent. NVivo was used to organize the data. Data were analyzed through the method described by Knafl and Webster, and common themes within and across groups were identified. Participants reported observations of irritable behavior, aggression, and depression. Additional observations include concerns regarding alterations in daily activities and social functioning. Family members devised strategies to support declining cognitive and behavioral function in persons with the HD gene mutation. They also attempted to interpret the meaning of alterations in health status. Promoting physical and emotional health of family members, who are future caregivers, may be enhanced by targeted interventions. Research was supported by R01NR07970 to Janet K. Williams.</td></tr></table>en_GB
dc.date.available2011-10-26T23:12:43Z-
dc.date.issued2011-10-17en_GB
dc.date.accessioned2011-10-26T23:12:43Z-
dc.description.sponsorshipMidwest Nursing Research Societyen_GB
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