{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,13]],"date-time":"2025-09-13T16:43:22Z","timestamp":1757781802115},"reference-count":0,"publisher":"Komitet Redakcyjno - Wydawniczy Polskiego Towarzystwa Psychiatrycznego","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Psychiatr Pol"],"abstract":"<jats:p>Zaburzenia ze spektrum autyzmu (Autism Spectrum Disorders- ASD) s\u0105 spowodowane zaburzeniami wczesnych faz rozwoju o\u015brodkowego uk\u0142adu nerwowego i zwykle s\u0105 rozpoznawane w pierwszych latach \u017cycia.  Pomimo wsp\u00f3lnych cech takich jak upo\u015bledzenie rozwoju spo\u0142eczno-komunikacyjnego oraz stereotypowe zachowania posiadaj\u0105 zr\u00f3\u017cnicowany przebieg i obraz kliniczny. Do najwa\u017cniejszych czynnik\u00f3w etiologicznych nale\u017c\u0105 geny i czynniki \u015brodowiskowe dzia\u0142aj\u0105ce w okresie prenatalnym, perinatalnym i noworodkowym. Wskazuje si\u0119 na rol\u0119 rzadko wyst\u0119puj\u0105cych wariant\u00f3w genetycznych o du\u017cej sile oddzia\u0142ywania np. zmienno\u015bci liczby powt\u00f3rze\u0144 w genach odpowiedzialnych za architektur\u0119 synaps i po\u0142\u0105cze\u0144 mi\u0119dzysynaptycznych. Postuluje si\u0119 r\u00f3wnie\u017c udzia\u0142 wyst\u0119puj\u0105cych cz\u0119sto wariant\u00f3w o niewielkiej sile oddzia\u0142ywania, w tym m.in. polimorfizm\u00f3w w genach koduj\u0105cych bia\u0142ka uk\u0142adu peptyd\u00f3w prospo\u0142ecznych \u2013 oksytocyny i wazopresyny. Spo\u015br\u00f3d \u015brodowiskowych czynnik\u00f3w ryzyka wymienia si\u0119 szkodliwe oddzia\u0142ywania w czasie ci\u0105\u017cy i porodu, cho\u0107 do tej pory nie potwierdzono ich swoistego znaczenia, a niekiedy wskazuje si\u0119, \u017ce r\u00f3wnie\u017c niekt\u00f3re z nich mog\u0105 wynika\u0107 pierwotnie z przyczyn genetycznych. W niekt\u00f3rych przypadkach, zw\u0142aszcza z zaburzeniami towarzysz\u0105cymi\u2013 niepe\u0142nosprawno\u015bci\u0105 intelektualn\u0105, padaczk\u0105 i dysmorfiami- wskazuje si\u0119 na celowo\u015b\u0107 szczeg\u00f3\u0142owej diagnostyki molekularnej, kt\u00f3ra obecnie mo\u017ce przyczyni\u0107 si\u0119 do wykrycia genetycznego pod\u0142o\u017ca zaburzenia w oko\u0142o 20% przypadk\u00f3w.<\/jats:p>","DOI":"10.12740\/pp\/43234","type":"journal-article","created":{"date-parts":[[2016,6,11]],"date-time":"2016-06-11T11:08:27Z","timestamp":1465643307000},"page":"543-554","source":"Crossref","is-referenced-by-count":9,"title":["The role of genetic factors and pre- and perinatal influences in the etiology of autism spectrum disorders \u2013 indications for genetic referral"],"prefix":"10.12740","volume":"50","author":[{"given":"Filip","family":"Rybakowski","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Izabela","family":"Chojnicka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piotr","family":"Dziechciarz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Horvath","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ma\u0142gorzata","family":"Janas-Kozik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anetta","family":"Jeziorek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ewa","family":"Pisula","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Piwowarczyk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnieszka","family":"S\u0142opie\u0144","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanna","family":"Sykut-Cegielska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanna","family":"Szajewska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krzysztof","family":"Szcza\u0142uba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krystyna","family":"Szyma\u0144ska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Walig\u00f3rska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aneta","family":"Wojciechowska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Micha\u0142","family":"Wroniszewski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Dunajska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"5036","published-online":{"date-parts":[[2016,6,8]]},"container-title":["Psychiatria Polska"],"original-title":["Znaczenie czynnik\u00f3w genetycznych oraz przed- i oko\u0142oporodowych w etiologii zaburze\u0144 ze spektrum autyzmu \u2013 wskazania do konsultacji genetycznej"],"link":[{"URL":"https:\/\/www.psychiatriapolska.pl\/pdf-57999-81281","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.psychiatriapolska.pl\/pdf-57999-81281","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,10,18]],"date-time":"2022-10-18T06:58:39Z","timestamp":1666076319000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.psychiatriapolska.pl\/Znaczenie-czynnikow-genetycznych-oraz-przed-i-okoloporodowych-w-etiologii-zaburzen-ze-spektrum-autyzmu-wskazania-do-konsultacji-genetycznej,57999,0,2.html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6,8]]},"references-count":0,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016]]}},"alternative-id":["57999"],"URL":"https:\/\/doi.org\/10.12740\/pp\/43234","relation":{},"ISSN":["0033-2674","2391-5854"],"issn-type":[{"value":"0033-2674","type":"print"},{"value":"2391-5854","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,6,8]]}}}