Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia...Valosin Containing Protein
Inclusion Body Myopathy associated with Paget's disease of bone and Fronto-temporal Dementia, also known as multisystem proteinopathy is an autosomal dominant, late onset neurodegenerative disorder caused by mutations in Valosin containing protein ( VCP) gene. This study aimed to assess uptake and d...
| Publicado en: | Journal of Genetic Counseling Vol. 24; no. 5; pp. 842 - 851 |
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| Autores principales: | , , , , , , , , , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Wiley-Blackwell
Oct2015
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=109344431&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 109344431 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 10597700 41A jtl: Journal of Genetic Counseling issn: 10597700 maglogo: N pubinfo: dt: Oct2015 vid: 24 iid: 5 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 109344431 109344431 109344431 10.1007/s10897-015-9819-7 109344431 ppf: 842 ppct: 9 formats: fmt: @attributes: type: P tig: atl: Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia...Valosin Containing Protein aug: au: Surampalli, Abhilasha Khare, Manaswitha Kubrussi, Georgette Wencel, Marie Tanaja, Jasmin Donkervoort, Sandra Osann, Kathryn Simon, Mariella Wallace, Douglas Smith, Charles M.McInerney-Leo, Aideen Kimonis, Virginia affil: Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California, Irvine 92697 USA sug: subj: Mutation Genetic Screening Psychosocial Factors Neurodegenerative Diseases Risk Factors Human Scales Questionnaires Summated Rating Scaling Descriptive Statistics Data Analysis Software Pearson's Correlation Coefficient Fisher's Exact Test Chi Square Test Wilcoxon Signed Rank Test Male Female Adult Middle Age Aged Funding Source Pretest-Posttest Design Adult: 19-44 years Middle Aged: 45-64 years Aged: 65+ years Male Female ab: Inclusion Body Myopathy associated with Paget's disease of bone and Fronto-temporal Dementia, also known as multisystem proteinopathy is an autosomal dominant, late onset neurodegenerative disorder caused by mutations in Valosin containing protein ( VCP) gene. This study aimed to assess uptake and decision making for predictive genetic testing and the impact on psychological well-being. Individuals who had participated in the gene discovery study with a 50 % a priori risk of inheriting VCP disease were sent a letter of invitation offering genetic counseling and testing and were also invited to participate in this psychosocial study. A total of 102 individuals received an invitation and 33 individuals participated in genetic counseling and testing (32.3 %) with 29 completing baseline questionnaires. Twenty completed the follow-up post-test Hospital Anxiety and Depression Scale questionnaire including 13 of the 18 who had tested positive. Mean risk perception at baseline was 50.1 %. Reasons for testing included planning for the future, relieving uncertainty, informing children and satisfying curiosity. At baseline, one quarter of the participants had high levels of anxiety. However, scores were normal one year following testing. In this small cohort, one third of individuals at 50 % risk chose pre-symptomatic testing. Although one quarter of those choosing testing had high anxiety at baseline, this was not evident at follow-up. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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