caa a22 4500 605544808 CHVBK 20210128100933.0 cr unu---uuuuu 210128e20151001xx s 000 0 eng 10.1007/s10897-015-9819-7 doi (NATIONALLICENCE)springer-10.1007/s10897-015-9819-7 Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia [Elektronische Daten] [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] 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. National Society of Genetic Counselors, Inc., 2015 Presymptomatic genetic testing nationallicence Huntington's disease nationallicence Neurodegenerative nationallicence Paget's disease nationallicence Hospital anxiety and depression scale nationallicence Surampalli Abhilasha Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California, 92697, Irvine, CA, USA aut Khare Manaswitha Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California, 92697, Irvine, CA, USA aut Kubrussi Georgette Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California, 92697, Irvine, CA, USA aut Wencel Marie Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California, 92697, Irvine, CA, USA aut Tanaja Jasmin Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California, 92697, Irvine, CA, USA aut Donkervoort Sandra Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California, 92697, Irvine, CA, USA aut Osann Kathryn Division of Hematology/Oncology, Department of Medicine, University of California, 92697, Irvine, CA, USA aut Simon Mariella Developmental and Cell Biology, University of California, 92697, Irvine, CA, USA aut Wallace Douglas Developmental and Cell Biology, University of California, 92697, Irvine, CA, USA aut Smith Charles Department of Neurology and Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY, USA aut M.McInerney-Leo Aideen The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, Brisbane, Australia aut Kimonis Virginia Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California, 92697, Irvine, CA, USA aut Journal of Genetic Counseling Springer US; http://www.springer-ny.com 24/5(2015-10-01), 842-850 1059-7700 24:5<842 2015 24 10897 https://doi.org/10.1007/s10897-015-9819-7 text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 research-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s10897-015-9819-7 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Surampalli Abhilasha Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California, 92697, Irvine, CA, USA aut NATIONALLICENCE 700 1- Khare Manaswitha Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California, 92697, Irvine, CA, USA aut NATIONALLICENCE 700 1- Kubrussi Georgette Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California, 92697, Irvine, CA, USA aut NATIONALLICENCE 700 1- Wencel Marie Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California, 92697, Irvine, CA, USA aut NATIONALLICENCE 700 1- Tanaja Jasmin Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California, 92697, Irvine, CA, USA aut NATIONALLICENCE 700 1- Donkervoort Sandra Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California, 92697, Irvine, CA, USA aut NATIONALLICENCE 700 1- Osann Kathryn Division of Hematology/Oncology, Department of Medicine, University of California, 92697, Irvine, CA, USA aut NATIONALLICENCE 700 1- Simon Mariella Developmental and Cell Biology, University of California, 92697, Irvine, CA, USA aut NATIONALLICENCE 700 1- Wallace Douglas Developmental and Cell Biology, University of California, 92697, Irvine, CA, USA aut NATIONALLICENCE 700 1- Smith Charles Department of Neurology and Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY, USA aut NATIONALLICENCE 700 1- M.McInerney-Leo Aideen The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, Brisbane, Australia aut NATIONALLICENCE 700 1- Kimonis Virginia Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California, 92697, Irvine, CA, USA aut NATIONALLICENCE 773 0- Journal of Genetic Counseling Springer US; http://www.springer-ny.com 24/5(2015-10-01), 842-850 1059-7700 24:5<842 2015 24 10897