{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,7,30]],"date-time":"2022-07-30T19:53:44Z","timestamp":1659210824102},"reference-count":7,"publisher":"Akademiai Kiado Zrt.","issue":"13","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2008,3,1]]},"abstract":"<jats:p>A Huntington-betegs\u00e9g autoszom\u00e1lis domin\u00e1ns m\u00f3don \u00f6r\u00f6kl\u0151d\u0151, feln\u0151ttkorban kezd\u0151d\u0151, progressz\u00edv lefoly\u00e1s\u00fa, neurodegenerat\u00edv k\u00f3rk\u00e9p. Preszimpt\u00f3m\u00e1s tesztel\u00e9s\u00e9re (genetikai vizsg\u00e1lat elv\u00e9gz\u00e9s\u00e9re a t\u00fcnetek megjelen\u00e9se el\u0151tt) nemzetk\u00f6zi aj\u00e1nl\u00e1sokat dolgoztak ki. A tesztel\u00e9s el\u0151tti felk\u00e9sz\u00edt\u0151 folyamatban genetikus, neurol\u00f3gus, pszichol\u00f3gus vesz r\u00e9szt.<jats:italic>C\u00e9lkit\u0171z\u00e9s:<\/jats:italic>A szerz\u0151k azt vizsg\u00e1lt\u00e1k, hogy a nemzetk\u00f6zi aj\u00e1nl\u00e1sok az \u00e1ltaluk vizsg\u00e1lt t\u00edz esetben mindig k\u00f6vethet\u0151k voltak-e, illetve mennyire kellett szem\u00e9lyre szabottan v\u00e9gezni a felk\u00e9sz\u00edt\u00e9st.<jats:italic>M\u00f3dszer:<\/jats:italic>A szerz\u0151k az irodalmi adatokra t\u00e1maszkodva protokollt dolgoztak ki a t\u00e1j\u00e9koztat\u00e1son alapul\u00f3 d\u00f6nt\u00e9shozatal el\u0151seg\u00edt\u00e9s\u00e9re, amelyben fontos r\u00e9sze van a pszichol\u00f3giai felk\u00e9sz\u00edt\u00e9snek. T\u00edz olyan szem\u00e9ly eset\u00e9t mutatj\u00e1k be, akik a csal\u00e1dban el\u0151fordul\u00f3 Huntington-betegs\u00e9g miatt k\u00e9rt\u00e9k a preszimpt\u00f3m\u00e1s vizsg\u00e1latot.<jats:italic>Eredm\u00e9nyek:<\/jats:italic>A vizsg\u00e1latot k\u00e9r\u0151 t\u00edz szem\u00e9ly k\u00f6z\u00fcl n\u00e9gyen a pszichol\u00f3giai felk\u00e9sz\u00edt\u00e9s elv\u00e9gz\u00e9se ut\u00e1n, k\u00e9t szem\u00e9ly m\u00e1r a felk\u00e9sz\u00edt\u00e9s befejez\u00e9se el\u0151tt k\u00e9rte a genetikai vizsg\u00e1lat elv\u00e9gz\u00e9s\u00e9t. N\u00e9gy szem\u00e9ly a pszichol\u00f3giai felk\u00e9sz\u00edt\u00e9s sor\u00e1n el\u00e1llt eredeti sz\u00e1nd\u00e9k\u00e1t\u00f3l.<jats:italic>K\u00f6vetkeztet\u00e9sek:<\/jats:italic>A protokoll l\u00e9p\u00e9seinek k\u00f6vet\u00e9se mellett egy\u00e9ni t\u00e9nyez\u0151ket is figyelembe kell venni a szem\u00e9lyre szabott preszimpt\u00f3m\u00e1s tesztel\u00e9s sor\u00e1n. Az irodalmi aj\u00e1nl\u00e1sok kieg\u00e9sz\u00edt\u00e9sek\u00e9nt a szerz\u0151k javasolj\u00e1k a genetikai teszt elk\u00e9sz\u00fclte ut\u00e1ni kapcsolattart\u00e1st is.<\/jats:p>","DOI":"10.1556\/oh.2008.28269","type":"journal-article","created":{"date-parts":[[2008,3,19]],"date-time":"2008-03-19T14:58:56Z","timestamp":1205938736000},"page":"609-612","source":"Crossref","is-referenced-by-count":1,"title":["Psychological aspects of presymptomatic diagnosis in Huntington disease"],"prefix":"10.1556","volume":"149","author":[{"given":"Berta","family":"Bondor","sequence":"first","affiliation":[{"name":"1 P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Orvosi Genetikai \u00e9s Gyermekfejl\u0151d\u00e9stani Int\u00e9zet P\u00e9cs J\u00f3zsef A. u. 7. 7623"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judit","family":"K\u00e1rteszi","sequence":"additional","affiliation":[{"name":"1 P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Orvosi Genetikai \u00e9s Gyermekfejl\u0151d\u00e9stani Int\u00e9zet P\u00e9cs J\u00f3zsef A. u. 7. 7623"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kinga","family":"Hadzsiev","sequence":"additional","affiliation":[{"name":"1 P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Orvosi Genetikai \u00e9s Gyermekfejl\u0151d\u00e9stani Int\u00e9zet P\u00e9cs J\u00f3zsef A. u. 7. 7623"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rich\u00e1rd","family":"Kellermayer","sequence":"additional","affiliation":[{"name":"1 P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Orvosi Genetikai \u00e9s Gyermekfejl\u0151d\u00e9stani Int\u00e9zet P\u00e9cs J\u00f3zsef A. u. 7. 7623"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00e9la","family":"Melegh","sequence":"additional","affiliation":[{"name":"1 P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Orvosi Genetikai \u00e9s Gyermekfejl\u0151d\u00e9stani Int\u00e9zet P\u00e9cs J\u00f3zsef A. u. 7. 7623"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gy\u00f6rgy","family":"Kosztol\u00e1nyi","sequence":"additional","affiliation":[{"name":"1 P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Orvosi Genetikai \u00e9s Gyermekfejl\u0151d\u00e9stani Int\u00e9zet P\u00e9cs J\u00f3zsef A. u. 7. 7623"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"atypb1","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1136\/jmg.31.7.555","volume":"31","year":"1994","journal-title":"J. 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