{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T06:40:24Z","timestamp":1776667224310,"version":"3.51.2"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T00:00:00Z","timestamp":1772236800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T00:00:00Z","timestamp":1772236800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100004923","name":"AFM-T\u00e9l\u00e9thon","doi-asserted-by":"publisher","award":["22853"],"award-info":[{"award-number":["22853"]}],"id":[{"id":"10.13039\/501100004923","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Community Genet"],"DOI":"10.1007\/s12687-026-00871-1","type":"journal-article","created":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T05:00:42Z","timestamp":1772254842000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The disclosure of a diagnosis of neuromuscular disease in adulthood: a qualitative study of patients\u2019 memories"],"prefix":"10.1007","volume":"17","author":[{"given":"Bettina","family":"Beaujard","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony","family":"B\u00e9hin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcela","family":"Gargiulo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie-Carmen","family":"Castillo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,2,28]]},"reference":[{"key":"871_CR1","unstructured":"AFM, Th\u00e9rapie g\u00e9nique (2022) AFM T\u00e9l\u00e9thon. https:\/\/www.afm-telethon.fr\/fr\/termes\/therapie-genique (accessed January 23, 2023)"},{"key":"871_CR2","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1016\/j.jaut.2013.12.001","volume":"52","author":"N Avidan","year":"2014","unstructured":"Avidan N, Le Panse R, Berrih-Aknin S, Miller A (2014) Genetic basis of myasthenia gravis \u2013 a comprehensive review. J Autoimmun 52:146\u201353. https:\/\/doi.org\/10.1016\/j.jaut.2013.12.001","journal-title":"J Autoimmun"},{"key":"871_CR3","doi-asserted-by":"publisher","first-page":"978","DOI":"10.3109\/09638288.2016.1172673","volume":"39","author":"M Bakker","year":"2017","unstructured":"Bakker M, Schipper K, Geurts AC, Abma TA (2017) It\u2019s not just physical: a qualitative study regarding the illness experiences of people with facioscapulohumeral muscular dystrophy. Disabil Rehabil 39:978\u2013986. https:\/\/doi.org\/10.3109\/09638288.2016.1172673","journal-title":"Disabil Rehabil"},{"key":"871_CR4","doi-asserted-by":"crossref","unstructured":"Beaujard B, Behin A, Gargiulo M, Castillo MC (2024) Revue semi-syst\u00e9matique de la litt\u00e9rature sur l\u2019annonce d\u2019une maladie neuromusculaire \u00e0 l\u2019\u00e2ge adulte. L\u2019\u00c9volution Psychiatrique","DOI":"10.1016\/j.evopsy.2024.02.003"},{"key":"871_CR5","first-page":"6","volume":"98","author":"FJ Berkey","year":"2018","unstructured":"Berkey FJ, Wiedemer JP, Vithalani ND (2018) Delivering Bad or Life-Altering News. Am Family Phys 98:6","journal-title":"Am Family Phys"},{"key":"871_CR6","doi-asserted-by":"publisher","DOI":"10.3402\/qhw.v9.22842","volume":"9","author":"MMU Berglund","year":"2014","unstructured":"Berglund MMU (2014) Learning turning points\u2014in life with long-term illness\u2014visualized with the help of the life-world philosophy. Int J Qual Stud Health Well-being 9:22842. https:\/\/doi.org\/10.3402\/qhw.v9.22842","journal-title":"Int J Qual Stud Health Well-being"},{"key":"871_CR7","unstructured":"Blanchet A, Gotman A (2015) L\u2019entretien (Armand Col)"},{"key":"871_CR8","doi-asserted-by":"publisher","unstructured":"Brignol TN, Marion S, Salort-Campana E, Bonne G (2019) La th\u00e9rapie g\u00e9nique ouvre une nouvelle \u00e8re. Cah Myol 9\u201311. https:\/\/doi.org\/10.1051\/myolog\/201919003","DOI":"10.1051\/myolog\/201919003"},{"key":"871_CR9","volume-title":"S\u2019asseoir pour parler: l\u2019art de communiquer de mauvaises nouvelles aux malades: guide du professionnel de sant\u00e9","author":"R Buckman","year":"2001","unstructured":"Buckman R (2001) S\u2019asseoir pour parler: l\u2019art de communiquer de mauvaises nouvelles aux malades: guide du professionnel de sant\u00e9. Elsevier Masson, Paris"},{"key":"871_CR10","volume-title":"Dire la v\u00e9rit\u00e9 au malade","author":"C Delaporte","year":"2001","unstructured":"Delaporte C (2001) Dire la v\u00e9rit\u00e9 au malade. Odile Jacob, Paris"},{"key":"871_CR11","doi-asserted-by":"crossref","unstructured":"Demazi\u00e8re D, Brossaud C, Trabal P, Van Meter K (2006) Analyses textuelles en sociologie. Logiciels, m\u00e9thodes, usages. Lectures, Publications Re\u00e7ues","DOI":"10.3917\/pur.bross.2006.01.0185"},{"key":"871_CR12","doi-asserted-by":"publisher","unstructured":"Durr A (2020) Pr\u00e9diction\u202f\u00bb dans les maladies g\u00e9n\u00e9tiques \u00e0 r\u00e9v\u00e9lation tardive. Handicap et g\u00e9n\u00e9tique. \u00c9r\u00e8s, Toulouse, pp 95\u2013103. https:\/\/doi.org\/10.3917\/eres.gargi.2020.01.0095","DOI":"10.3917\/eres.gargi.2020.01.0095"},{"key":"871_CR13","doi-asserted-by":"publisher","first-page":"312","DOI":"10.1016\/S0140-6736(03)15392-5","volume":"363","author":"L Fallowfield","year":"2004","unstructured":"Fallowfield L, Jenkins V (2004) Communicating sad, bad, and difficult news in medicine. Lancet 363:312\u2013319. https:\/\/doi.org\/10.1016\/S0140-6736(03)15392-5","journal-title":"Lancet"},{"key":"871_CR14","doi-asserted-by":"publisher","first-page":"9792","DOI":"10.3390\/ijerph19169792","volume":"19","author":"IAM Fernandes","year":"2022","unstructured":"Fernandes IAM, Menezes ROA, Rego G (2022) Empatia: a guide for communicating the diagnosis of neuromuscular diseases. Int J Environ Res Public Health 19:9792. https:\/\/doi.org\/10.3390\/ijerph19169792","journal-title":"Int J Environ Res Public Health"},{"key":"871_CR15","unstructured":"Frischmann M, Reveill\u00e8re C (1997) Les aspects psychologiques en mati\u00e8re de diagnostic. R\u00e9adaptation"},{"key":"871_CR16","volume-title":"Vivre avec une maladie g\u00e9n\u00e9tique","author":"M Gargiulo","year":"2009","unstructured":"Gargiulo M, Salvador M (2009) Vivre avec une maladie g\u00e9n\u00e9tique. Albin Michel, Paris"},{"key":"871_CR17","unstructured":"Haute autorit\u00e9 de sant\u00e9 (2008) Annoncer une mauvaise nouvelle"},{"key":"871_CR18","doi-asserted-by":"crossref","unstructured":"Herson A (2020) Annonce de la maladie g\u00e9n\u00e9tique \u00e0 l\u2019enfant: cause g\u00e9n\u00e9tique et histoire d\u2019une origine. Handicap et g\u00e9n\u00e9tique. \u00c9r\u00e8s, pp 139\u201356","DOI":"10.3917\/eres.gargi.2020.01.0139"},{"key":"871_CR19","doi-asserted-by":"publisher","first-page":"A70","DOI":"10.1016\/j.revmed.2016.04.291","volume":"37","author":"B Hervier","year":"2016","unstructured":"Hervier B, Tchetgnia L, Champtiaux N, Benveniste O, Devilliers H (2016) \u00c9tude qualitative par entretiens individuels des cons\u00e9quences des myopathies inflammatoires sur la qualit\u00e9 de vie. La Revue de M\u00e9decine Interne 37:A70. https:\/\/doi.org\/10.1016\/j.revmed.2016.04.291","journal-title":"La Revue de M\u00e9decine Interne"},{"key":"871_CR20","doi-asserted-by":"publisher","unstructured":"Korff-Sausse S (2020) Myst\u00e8res et menaces de la transmission. Handicap et g\u00e9n\u00e9tique. \u00c9r\u00e8s, Toulouse, pp 23\u201337. https:\/\/doi.org\/10.3917\/eres.gargi.2020.01.0023","DOI":"10.3917\/eres.gargi.2020.01.0023"},{"key":"871_CR21","unstructured":"Mihura J, Erbaut M, Chabot JM, Grenier C (2008) Annoncer une mauvaise nouvelle. Annoncer Une Mauvaise Nouvelle URL: http:\/\/www.Has-SanteFr\/Portail\/Jcms\/C_698028\/Fr\/Annoncer-Une-Mauvaise-Nouvelle [Accessed 2016-05-17]"},{"key":"871_CR22","doi-asserted-by":"publisher","first-page":"279","DOI":"10.3233\/JND-180310","volume":"5","author":"L Minier","year":"2018","unstructured":"Minier L, Lignier B, Bouvet C, Gallais B, Camart N (2018) A review of psychopathology features, personality, and coping in myotonic dystrophy type 1. J Neuromuscul Dis 5:279\u2013294. https:\/\/doi.org\/10.3233\/JND-180310","journal-title":"J Neuromuscul Dis"},{"key":"871_CR23","doi-asserted-by":"publisher","first-page":"285","DOI":"10.3917\/pcp.023.0285","volume":"23","author":"C Orblin Bedos","year":"2017","unstructured":"Orblin Bedos C, Misdrahi S, Bonnichon D, Mendelson J, Gargiulo M, Lou\u00ebt E (2017) \u00c9tude du mouvement dans les \u00e9preuves projectives \u00e0 la lumi\u00e8re d\u2019un cas de myasth\u00e9nie gravis. Psychol Clin Project 23:285. https:\/\/doi.org\/10.3917\/pcp.023.0285","journal-title":"Psychol Clin Project"},{"key":"871_CR24","doi-asserted-by":"crossref","unstructured":"Pousada T, Pereira J, D\u00edez E, Groba B, Nieto L, Pazos A (2018) Needs, Demands and Reality of People with Neuromuscular Disorders Users of Wheelchair. Open Access 9","DOI":"10.31031\/EPMR.2017.01.000504"},{"key":"871_CR25","unstructured":"Schanen-Bergot, Gargiulo M, Herson A, Reveillere C, Sayah S (2019) L\u2019annonce du diagnostic d\u2019une maladie neuromusculaire"},{"key":"871_CR26","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1093\/annonc\/mdg010","volume":"14","author":"PE Schofield","year":"2003","unstructured":"Schofield PE (2003) Psychological responses of patients receiving a diagnosis of cancer. Ann Oncol 14:48\u201356. https:\/\/doi.org\/10.1093\/annonc\/mdg010","journal-title":"Ann Oncol"},{"key":"871_CR27","doi-asserted-by":"publisher","first-page":"270","DOI":"10.4276\/030802213X13706169932860","volume":"76","author":"D Sexton","year":"2013","unstructured":"Sexton D (2013) As good as it\u2019s going to get\u2019. Bad news conversations in neurology: challenges for occupational therapists. Br J Occup Ther 76:270\u2013279. https:\/\/doi.org\/10.4276\/030802213X13706169932860","journal-title":"Br J Occup Ther"},{"key":"871_CR28","unstructured":"Srinivasan R, Bens S, Dhamdhere S (2019) Adult and adolescent onset muscular dystrophies: evaluation and diagnosis \u2013 PM&R KnowledgeNow. https:\/\/now.aapmr.org\/adult-and-adolescent-onset-muscular-dystrophies-evaluation-and-diagnosis\/ (accessed March 17, 2019)"}],"container-title":["Journal of Community Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12687-026-00871-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12687-026-00871-1","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12687-026-00871-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T05:45:33Z","timestamp":1776663933000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12687-026-00871-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,28]]},"references-count":28,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2026,4]]}},"alternative-id":["871"],"URL":"https:\/\/doi.org\/10.1007\/s12687-026-00871-1","relation":{},"ISSN":["1868-6001"],"issn-type":[{"value":"1868-6001","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,28]]},"assertion":[{"value":"22 January 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 February 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 February 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"statement\n                      : The authors declare that they have no known competing financial interests or personal relationships that could have influenced the work reported in this paper.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This study received approval (2019-10-02, no. 00011928) from the hospital\u2019s institutional review board (CERAPHP.5) and data collection information was registered with the CNIL (no. 2218654v0), France\u2019s data protection agency.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}],"article-number":"34"}}