{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T21:35:50Z","timestamp":1772314550985,"version":"3.50.1"},"reference-count":0,"publisher":"Komitet Redakcyjno - Wydawniczy Polskiego Towarzystwa Psychiatrycznego","issue":"4","license":[{"start":{"date-parts":[[2023,8,31]],"date-time":"2023-08-31T00:00:00Z","timestamp":1693440000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2023,8,31]],"date-time":"2023-08-31T00:00:00Z","timestamp":1693440000000},"content-version":"am","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2023,8,31]],"date-time":"2023-08-31T00:00:00Z","timestamp":1693440000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Psychiatr Pol"],"published-print":{"date-parts":[[2023,8,31]]},"abstract":"<jats:p>Celem pracy by\u0142o podsumowanie aktualnej wiedzy na temat zaburze\u0144 neuropsychiatrycznych zwi\u0105zanych ze stwardnieniem guzowatym (ang. Tuberous Sclerosis Complex, TSC). TSC jest rzadk\u0105 chorob\u0105 genetyczn\u0105, zaliczan\u0105 do fakomatoz. Ze wzgl\u0119du na szerokie spektrum objaw\u00f3w klinicznych wiele przypadk\u00f3w pozostaje niezdiagnozowanych. U zdecydowanej wi\u0119kszo\u015bci os\u00f3b z mutacj\u0105 w genach TSC1 lub TSC2 w ci\u0105gu \u017cycia dochodzi do rozwoju niekt\u00f3rych z objaw\u00f3w neuropsychiatrycznych. W pracy przedstawiono aktualne kryteria diagnostyczne TSC. Opisana zosta\u0142a r\u00f3wnie\u017c patologia neuroanatomiczna i patofizjologia le\u017c\u0105ca u pod\u0142o\u017ca objaw\u00f3w psychiatrycznych, neuropsychologicznych, rozwojowych i psychospo\u0142ecznych wyst\u0119puj\u0105cych w TSC. Przedstawiono specyfik\u0119 padaczki w TSC i jej rol\u0119 w rozwoju neuropsychiatrycznym i neuropsychologicznym. Szczeg\u00f3\u0142owo om\u00f3wione zosta\u0142y wszystkie poziomy (intelektualny, rozwojowy, behawioralny, psychiatryczny, szkolny, neuropsychologiczny i psychospo\u0142eczny) zaburze\u0144 neuropsychiatrycznych zwi\u0105zanych ze stwardnieniem guzowatym (ang. Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders, TAND). W pracy opisane zosta\u0142o narz\u0119dzie do oceny wszystkich potencjalnie zaburzonych aspekt\u00f3w funkcjonowania os\u00f3b z TSC - Lista kontrolna TAND. Podkre\u015blono wag\u0119 w\u0142a\u015bciwej diagnozy zaburze\u0144 neuropsychiatrycznych i multidyscyplinarnej opieki nad pacjentem.<\/jats:p>","DOI":"10.12740\/pp\/onlinefirst\/146265","type":"journal-article","created":{"date-parts":[[2022,6,2]],"date-time":"2022-06-02T21:18:21Z","timestamp":1654204701000},"page":"823-842","source":"Crossref","is-referenced-by-count":5,"title":["Tuberous sclerosis complex-associated neuropsychiatric disorders"],"prefix":"10.12740","volume":"57","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8331-208X","authenticated-orcid":false,"given":"Anna B.","family":"Marcinkowska","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnieszka","family":"Tarasewicz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergiusz","family":"J\u00f3\u017awiak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alicja","family":"D\u0119bska-\u015alizie\u0144","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edyta","family":"Szurowska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"5036","published-online":{"date-parts":[[2023,8,31]]},"container-title":["Psychiatria Polska"],"original-title":["Zaburzenia neuropsychiatryczne zwi\u0105zane ze stwardnieniem guzowatym"],"link":[{"URL":"https:\/\/www.psychiatriapolska.pl\/pdf-146265-81835","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.psychiatriapolska.pl\/pdf-146265-81835","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,4]],"date-time":"2023-10-04T17:35:23Z","timestamp":1696440923000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.psychiatriapolska.pl\/Tuberous-sclerosis-complex-associated-neuropsychiatric-disorders,146265,0,2.html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,31]]},"references-count":0,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023]]}},"alternative-id":["146265"],"URL":"https:\/\/doi.org\/10.12740\/pp\/onlinefirst\/146265","relation":{},"ISSN":["0033-2674","2391-5854"],"issn-type":[{"value":"0033-2674","type":"print"},{"value":"2391-5854","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,31]]}}}