Literature DB >> 17943424

Living at risk: concealing risk and preserving hope in Huntington disease.

Kimberly A Quaid1, Sharon L Sims, Melinda M Swenson, Joan M Harrison, Carol Moskowitz, Nonna Stepanov, Gregory W Suter, Beryl J Westphal.   

Abstract

Much of the qualitative research on Huntington disease has focused on the genetic testing aspects of HD. The overall purpose of this qualitative study was to gather information about the everyday experience of living with the risk of developing Huntington disease in a sample of individuals at risk for HD who have chosen not to pursue genetic testing. Data for this article was obtained from unstructured, open-ended qualitative interviews of a sample of people participating in the PHAROS study. PHAROS, the Prospective Huntington At-Risk Observational Study, is a multi-site study that aims to establish whether experienced clinicians can reliably determine the earliest clinical symptoms of Huntington disease in individuals at 50% risk for HD who have chosen not to undergo genetic testing. Interviews were conducted at six PHAROS research sites across the United States. In this paper, the research team used qualitative description to construct and explore two main themes: (1) careful concealment of risk as an act of self-preservation and (2) preserving hope.

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Year:  2007        PMID: 17943424      PMCID: PMC3660843          DOI: 10.1007/s10897-007-9133-0

Source DB:  PubMed          Journal:  J Genet Couns        ISSN: 1059-7700            Impact factor:   2.537


  11 in total

Review 1.  Whatever happened to qualitative description?

Authors:  M Sandelowski
Journal:  Res Nurs Health       Date:  2000-08       Impact factor: 2.228

2.  Balancing autonomy and responsibility: the ethics of generating and disclosing genetic information.

Authors:  N Hallowell; C Foster; R Eeles; A Ardern-Jones; V Murday; M Watson
Journal:  J Med Ethics       Date:  2003-04       Impact factor: 2.903

3.  Disclosing genetic test results to family members.

Authors:  Rebekah J Hamilton; Barbara J Bowers; Janet K Williams
Journal:  J Nurs Scholarsh       Date:  2005       Impact factor: 3.176

4.  Parents sharing information with their children about genetic conditions.

Authors:  Agatha M Gallo; Denise Angst; Kathleen A Knafl; Emily Hadley; Carrol Smith
Journal:  J Pediatr Health Care       Date:  2005 Sep-Oct       Impact factor: 1.812

5.  A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

Authors: 
Journal:  Cell       Date:  1993-03-26       Impact factor: 41.582

6.  A polymorphic DNA marker genetically linked to Huntington's disease.

Authors:  J F Gusella; N S Wexler; P M Conneally; S L Naylor; M A Anderson; R E Tanzi; P C Watkins; K Ottina; M R Wallace; A Y Sakaguchi
Journal:  Nature       Date:  1983 Nov 17-23       Impact factor: 49.962

7.  Redefinition: coping with normal results from predictive gene testing for neurodegenerative disorders.

Authors:  J K Williams; D L Schutte; C Evers; P A Holkup
Journal:  Res Nurs Health       Date:  2000-08       Impact factor: 2.228

8.  To tell or not to tell: barriers and facilitators in family communication about genetic risk.

Authors:  K Forrest; S A Simpson; B J Wilson; E R van Teijlingen; L McKee; N Haites; E Matthews
Journal:  Clin Genet       Date:  2003-10       Impact factor: 4.438

9.  Learning from the voiceless.

Authors:  Lotte Huniche
Journal:  New Genet Soc       Date:  2003-12

10.  Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000.

Authors:  S Creighton; E W Almqvist; D MacGregor; B Fernandez; H Hogg; J Beis; J P Welch; C Riddell; R Lokkesmoe; M Khalifa; J MacKenzie; A Sajoo; S Farrell; F Robert; A Shugar; A Summers; W Meschino; D Allingham-Hawkins; T Chiu; A Hunter; J Allanson; H Hare; J Schween; L Collins; S Sanders; C Greenberg; S Cardwell; E Lemire; P MacLeod; M R Hayden
Journal:  Clin Genet       Date:  2003-06       Impact factor: 4.438

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  12 in total

1.  Development of the HD-Teen Inventory.

Authors:  Martha Driessnack; Janet K Williams; J Jackson Barnette; Kathleen J Sparbel; Jane S Paulsen
Journal:  Clin Nurs Res       Date:  2011-06-01       Impact factor: 2.075

2.  What were you thinking?: individuals at risk for Huntington Disease talk about having children.

Authors:  Kimberly A Quaid; Melinda M Swenson; Sharon L Sims; Joan M Harrison; Carol Moskowitz; Nonna Stepanov; Gregory W Suter; Beryl J Westphal
Journal:  J Genet Couns       Date:  2010-08-24       Impact factor: 2.537

3.  Potential stigma associated with inclusion of the psychosis risk syndrome in the DSM-V: an empirical question.

Authors:  Lawrence H Yang; Ahtoy J Wonpat-Borja; Mark G Opler; Cheryl M Corcoran
Journal:  Schizophr Res       Date:  2010-04-18       Impact factor: 4.939

4.  Presymptomatic genetic testing for hereditary cancer in young adults: a survey of young adults and parents.

Authors:  Lea Godino; Daniela Turchetti; Leigh Jackson; Catherine Hennessy; Heather Skirton
Journal:  Eur J Hum Genet       Date:  2018-10-04       Impact factor: 4.246

5.  Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia.

Authors:  Abhilasha Surampalli; Manaswitha Khare; Georgette Kubrussi; Marie Wencel; Jasmin Tanaja; Sandra Donkervoort; Kathryn Osann; Mariella Simon; Douglas Wallace; Charles Smith; Aideen M McInerney-Leo; Virginia Kimonis
Journal:  J Genet Couns       Date:  2015-02-26       Impact factor: 2.537

6.  Strategies used by teens growing up in families with Huntington disease.

Authors:  Janet K Williams; Martha Driessnack; J Jackson Barnette; Kathleen J H Sparbel; Anne Leserman; Sean Thompson; Jane S Paulsen
Journal:  J Pediatr Nurs       Date:  2013-03-24       Impact factor: 2.145

7.  Experiences of teens living in the shadow of Huntington Disease.

Authors:  Kathleen J H Sparbel; Martha Driessnack; Janet K Williams; Debra L Schutte; Toni Tripp-Reimer; Meghan McGonigal-Kenney; Lori Jarmon; Jane S Paulsen
Journal:  J Genet Couns       Date:  2008-03-18       Impact factor: 2.537

8.  PRECREST: a phase II prevention and biomarker trial of creatine in at-risk Huntington disease.

Authors:  Herminia D Rosas; Gheorghe Doros; Sona Gevorkian; Keith Malarick; Martin Reuter; Jean-Philippe Coutu; Tyler D Triggs; Paul J Wilkens; Wayne Matson; David H Salat; Steven M Hersch
Journal:  Neurology       Date:  2014-02-07       Impact factor: 9.910

9.  Perspectives on Genetic Testing and Return of Results from the First Cohort of Presymptomatically Tested Individuals At Risk of Huntington Disease.

Authors:  K M Stuttgen; J M Bollinger; R L Dvoskin; A McCague; B Shpritz; J Brandt; Debra J H Mathews
Journal:  J Genet Couns       Date:  2018-07-02       Impact factor: 2.537

10.  Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis.

Authors:  Joanna H Fanos; Susan Gronka; Joanne Wuu; Christine Stanislaw; Peter M Andersen; Michael Benatar
Journal:  Genet Med       Date:  2011-04       Impact factor: 8.822

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