{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,15]],"date-time":"2025-11-15T03:57:31Z","timestamp":1763179051889,"version":"build-2065373602"},"reference-count":42,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2018,10,1]],"date-time":"2018-10-01T00:00:00Z","timestamp":1538352000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,10,1]],"date-time":"2018-10-01T00:00:00Z","timestamp":1538352000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2018,10]]},"DOI":"10.1016\/j.ejmg.2018.03.010","type":"journal-article","created":{"date-parts":[[2018,3,23]],"date-time":"2018-03-23T13:57:48Z","timestamp":1521813468000},"page":"575-580","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["Long-term predictors for psychological outcome of pre-symptomatic testing for late-onset neurological diseases"],"prefix":"10.1016","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3083-3129","authenticated-orcid":false,"given":"Susana","family":"L\u00eado","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Ramires","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0560-1756","authenticated-orcid":false,"given":"\u00c2ngela","family":"Leite","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2198-6740","authenticated-orcid":false,"given":"Maria Alzira Pimenta","family":"Dinis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9846-1037","authenticated-orcid":false,"given":"Jorge","family":"Sequeiros","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.ejmg.2018.03.010_bib1","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1034\/j.1399-0004.2003.00157.x","article-title":"Canadian Collaborative Study of Predictive Testing. Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington's disease","volume":"64","author":"Almqvist","year":"2003","journal-title":"J. Clin. Genet."},{"key":"10.1016\/j.ejmg.2018.03.010_bib2","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1001\/archpsyc.1961.01710120031004","article-title":"An Inventory for measure depression","volume":"4","author":"Beck","year":"1961","journal-title":"Arch. Gen. Psychiatr."},{"key":"10.1016\/j.ejmg.2018.03.010_bib3","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1207\/s15327752jpa6703_13","article-title":"Comparison of Beck depression inventories \u2013IA and \u2013II in psychiatric outpatients","volume":"67","author":"Beck","year":"1996","journal-title":"J. Pers. Assess."},{"key":"10.1016\/j.ejmg.2018.03.010_bib4","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1111\/j.1467-6494.1986.tb00391.x","article-title":"The role of factor analysis in the development and evaluation of personality scales","volume":"54","author":"Briggs","year":"1986","journal-title":"J. Pers."},{"key":"10.1016\/j.ejmg.2018.03.010_bib5","series-title":"Testes e Provas Psicol\u00f3gicos em Portugal [Psychological Tests in Portugal]","first-page":"87","article-title":"Invent\u00e1rio de Sintomas Psicopatol\u00f3gicos (BSI) [Brief Symptom Inventory (BSI)]","volume":"vol. II","author":"Canavarro","year":"1999"},{"key":"10.1016\/j.ejmg.2018.03.010_bib6","series-title":"Avalia\u00e7\u00e3o Psicol\u00f3gica. Instrumentos validados para a popula\u00e7\u00e3o portuguesa [Psychological evaluation. Instruments validated for the Portuguese population]","first-page":"305","article-title":"Invent\u00e1rio de Sintomas Psicopatol\u00f3gicos (BSI). Uma revis\u00e3o cr\u00edtica dos estudos realizados em Portugal [Brief Symptom Inventory (BSI). A critical review of the studies carried out in Portugal]","volume":"vol III","author":"Canavarro","year":"2007"},{"key":"10.1016\/j.ejmg.2018.03.010_bib7","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1037\/1040-3590.7.3.309","article-title":"Constructing validity: basic issues in objective scale development","volume":"7","author":"Clark","year":"1995","journal-title":"Psychol. Assess."},{"issue":"1","key":"10.1016\/j.ejmg.2018.03.010_bib8","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1037\/0278-6133.16.1.36","article-title":"Predictors of psychological adjustment to genetic testing of Huntington's Disease","volume":"16","author":"Codori","year":"1997","journal-title":"Health Psychol."},{"key":"10.1016\/j.ejmg.2018.03.010_bib9","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1212\/WNL.0b013e3182661eb1","article-title":"Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial","volume":"79","author":"Coelho","year":"2012","journal-title":"Neurology"},{"year":"1988","series-title":"Statistical Power and Analysis for the Behavioral Sciences","author":"Cohen","key":"10.1016\/j.ejmg.2018.03.010_bib10"},{"issue":"1","key":"10.1016\/j.ejmg.2018.03.010_bib12","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1007\/s10897-014-9755-y","article-title":"The psychological impact of predictive genetic testing for Huntington's Disease: a systematic review of the literature","volume":"24","author":"Crozier","year":"2015","journal-title":"J. Genet. Counsel."},{"issue":"1","key":"10.1016\/j.ejmg.2018.03.010_bib13","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1038\/sj.ejhg.5200913","article-title":"Psychological distress in the 5-year period after predictive testing for Huntington's disease","volume":"11","author":"Decruyenaere","year":"2003","journal-title":"Eur. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.ejmg.2018.03.010_bib14","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1111\/j..2004.00168.x","article-title":"Predictive testing for Huntington's disease: relationship with partners after testing","volume":"65","author":"Decruyenaere","year":"2004","journal-title":"J. Clin. Genet."},{"year":"1993","series-title":"BSI Brief Symptom Inventory: Administration, Scoring, and Procedure Manual","author":"Derogatis","key":"10.1016\/j.ejmg.2018.03.010_bib15"},{"key":"10.1016\/j.ejmg.2018.03.010_bib16","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1038\/ejhg.2008.146","article-title":"Long-term outcome of presymptomatic testing in Huntington disease","volume":"17","author":"Gargiulo","year":"2009","journal-title":"Eur. J. Hum. Genet."},{"issue":"8","key":"10.1016\/j.ejmg.2018.03.010_bib17","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1136\/jmedgenet-2016-104199","article-title":"A liminal stage after predictive testing for Huntington disease","volume":"54","author":"Gargiulo","year":"2017","journal-title":"J. Med. Genet."},{"issue":"12","key":"10.1016\/j.ejmg.2018.03.010_bib18","first-page":"1","article-title":"Psychological well-being and family satisfaction levels five years after being confirmed as a Carrier of the Machado-Joseph Disease mutation","volume":"16","author":"Gonzalez","year":"2012","journal-title":"J. Genet. Test. Mol. Biomarkers"},{"year":"2013","series-title":"Multivariate Data Analysis","author":"Hair","key":"10.1016\/j.ejmg.2018.03.010_bib19"},{"issue":"10","key":"10.1016\/j.ejmg.2018.03.010_bib20","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1136\/jmedgenet-2011-100352","article-title":"Lessons from predictive testing for Huntington disease: 25 years on","volume":"48","author":"Hawkins","year":"2011","journal-title":"J. Med. Genet."},{"issue":"1","key":"10.1016\/j.ejmg.2018.03.010_bib11","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1097\/01.TP.0000092307.98347.CB","article-title":"Ten years of international experience with liver transplantation for familial amyloidotic polyneuropathy: results from the Familial Amyloidotic Polyneuropathy World Transplant Registry","volume":"77","author":"Herlenius","year":"2004","journal-title":"Transplantation"},{"year":"2016","series-title":"Statistics for Windows","author":"IBM SPSS","key":"10.1016\/j.ejmg.2018.03.010_bib21"},{"year":"1999","series-title":"The Handbook of Psychological Testing","author":"Kline","key":"10.1016\/j.ejmg.2018.03.010_bib22"},{"key":"10.1016\/j.ejmg.2018.03.010_bib23","doi-asserted-by":"crossref","first-page":"14","DOI":"10.4236\/ojgen.2013.32A3003","article-title":"Anxiety and pre-symptomatic testing for neurodegenerative disorders","volume":"3","author":"L\u00eado","year":"2013","journal-title":"Open J. Genet."},{"key":"10.1016\/j.ejmg.2018.03.010_bib24","doi-asserted-by":"crossref","first-page":"270","DOI":"10.4236\/ojgen.2013.34030","article-title":"Predictive testing for two neurodegenerative disorders (FAP and HD): a psychological point of view","volume":"3","author":"L\u00eado","year":"2013","journal-title":"Open J. Genet."},{"issue":"2","key":"10.1016\/j.ejmg.2018.03.010_bib25","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1590\/1516-4446-2014-1617","article-title":"Middle- and long-term anxiety levels resulting from presymptomatic testing of HD, MJD and FAP neurodegenerative diseases","volume":"38","author":"L\u00eado","year":"2016","journal-title":"Rev. Bras. Psiquiatr."},{"issue":"2","key":"10.1016\/j.ejmg.2018.03.010_bib26","first-page":"579","article-title":"Depression as the middle-and long-term impact for pre-symptomatic testing of HD, MJD and FAP neurodegenerative disorders","volume":"24","author":"L\u00eado","year":"2016","journal-title":"Trends Psychol."},{"issue":"1","key":"10.1016\/j.ejmg.2018.03.010_bib27","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/s10897-015-9846-4","article-title":"Subjects at-risk for genetic diseases in Portugal: illness representations","volume":"25","author":"Leite","year":"2016","journal-title":"J. Genet. Counsel."},{"issue":"2","key":"10.1016\/j.ejmg.2018.03.010_bib28","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1080\/13548506.2016.1159704","article-title":"Illness representations, knowledge and motivation to perform presymptomatic testing for late-onset genetic diseases","volume":"22","author":"Leite","year":"2017","journal-title":"Psychol. Health Med."},{"issue":"1","key":"10.1016\/j.ejmg.2018.03.010_bib29","first-page":"125","article-title":"Motivation to perform presymptomatic testing in Portuguese subjects at-risk for late-onset genetic diseases","volume":"34","author":"Leite","year":"2017","journal-title":"Interdisciplinaria"},{"issue":"3","key":"10.1016\/j.ejmg.2018.03.010_bib30","doi-asserted-by":"crossref","DOI":"10.11144\/Javeriana.upsy16-3.rpsf","article-title":"Risk perception in subjects at-risk for familial amyloidotic polyneuropathy","volume":"16","author":"Leite","year":"2017","journal-title":"Universitas Psychologica"},{"key":"10.1016\/j.ejmg.2018.03.010_bib31","first-page":"1","article-title":"Long-term negative psychological impact of presymptomatic testing for Huntington Disease","volume":"34","author":"Leite","year":"2017","journal-title":"J. Health Med. Nurs."},{"issue":"16","key":"10.1016\/j.ejmg.2018.03.010_bib32","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1002\/ajmg.a.32423","article-title":"Mental health and quality of life after genetic testing for Huntington disease: a long-term effect study in Germany","volume":"146A","author":"Licklederer","year":"2008","journal-title":"Am. J. Med. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2018.03.010_bib33","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1111\/j.1399-0004.2006.00606.x","article-title":"Psychological aspects of pre-symptomatic testing for Machado-Joseph disease and familial amyloid polyneuropathy type I","volume":"69","author":"Rolim","year":"2006","journal-title":"J. Clin. Genet."},{"key":"10.1016\/j.ejmg.2018.03.010_bib34","series-title":"Symposium on Peripheral Neuropathies, 207-212. Lisboa","article-title":"Familial Amyloidotic Polyneuropathy, Portuguese type: phenotype and genotype","author":"Saraiva","year":"1986"},{"key":"10.1016\/j.ejmg.2018.03.010_bib35","series-title":"The Predictive Test of Machado-Joseph Disease","first-page":"97","article-title":"Genetic counseling and predictive testing in Machado-Joseph disease","author":"Sequeiros","year":"1996"},{"key":"10.1016\/j.ejmg.2018.03.010_bib36","article-title":"Ten years of a programme for presymptomatic testing (PST) and prenatal diagnosis (PND) in late-onset neurological diseases in Portugal: machado-Joseph disease (MJD), Huntington disease (HD) and familial amyloid neuropathy type I - ATTRV30M (FAP-I)","volume":"01","author":"Sequeiros","year":"2006","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2018.03.010_bib37","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/j.brainresbull.2006.10.023","article-title":"Predictive testing for Huntington's disease","volume":"72","author":"Tibben","year":"2007","journal-title":"Brain Res. Bull."},{"issue":"2","key":"10.1016\/j.ejmg.2018.03.010_bib38","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1037\/0278-6133.23.2.189","article-title":"Adverse effects of predictive testing for Huntington disease underestimated: long-term effects 7\u201310 Years after the test","volume":"23","author":"Timman","year":"2004","journal-title":"Health Psychol."},{"key":"10.1016\/j.ejmg.2018.03.010_bib39","first-page":"623","article-title":"Measurement of depressive disorders. I - essay application of Beck Depression Inventory for a Portuguese sample of depressed patients","volume":"20","author":"Vaz Serra","year":"1973","journal-title":"J. Med. Coimbra"},{"key":"10.1016\/j.ejmg.2018.03.010_bib40","first-page":"713","article-title":"Measurement of depressive disorders. II - preliminary study of new symptom clusters to complement the Beck Depression Inventory","volume":"20","author":"Vaz Serra","year":"1973","journal-title":"J. Med. Coimbra"},{"issue":"4","key":"10.1016\/j.ejmg.2018.03.010_bib41","first-page":"203","article-title":"Aferi\u00e7\u00e3o da Escala de Auto-avalia\u00e7\u00e3o de Ansiedade de SAS, numa amostra da popula\u00e7\u00e3o portuguesa-II- Sua avalia\u00e7\u00e3o como instrumento de medida","volume":"3","author":"Vaz Serra","year":"1982","journal-title":"Psiquiatria Cl\u00ednica"},{"key":"10.1016\/j.ejmg.2018.03.010_bib42","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1016\/S0033-3182(71)71479-0","article-title":"A rating instrument for anxiety disorders","volume":"12","author":"Zung","year":"1975","journal-title":"Psychosomatics"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721217306341?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721217306341?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:46:09Z","timestamp":1761709569000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721217306341"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10]]},"references-count":42,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2018,10]]}},"alternative-id":["S1769721217306341"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2018.03.010","relation":{},"ISSN":["1769-7212"],"issn-type":[{"type":"print","value":"1769-7212"}],"subject":[],"published":{"date-parts":[[2018,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Long-term predictors for psychological outcome of pre-symptomatic testing for late-onset neurological diseases","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2018.03.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}