{"id":819,"date":"2026-08-12T00:09:37","date_gmt":"2026-08-11T22:09:37","guid":{"rendered":"https:\/\/kleefstrasyndrome.com\/?page_id=819"},"modified":"2026-08-18T11:41:43","modified_gmt":"2026-08-18T09:41:43","slug":"chi-sono","status":"publish","type":"page","link":"https:\/\/kleefstrasyndrome.com\/it\/about-me\/","title":{"rendered":"Chi sono"},"content":{"rendered":"
\n
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Mi chiamo Katerina Tzimourta (Katerina Tzimourta<\/a>) e sono la zia di Christina, a cui nel giugno del 2013 \u00e8 stata diagnosticata la sindrome di Kleefstra, una malattia estremamente rara. Nell\u2019aprile del 2016 la nostra bambina ci ha lasciati a causa delle complicazioni derivanti da un\u2019infezione respiratoria. <\/p>\n\n\n\n

Il motivo per cui ho iniziato a scrivere la storia della nostra vita \u00e8 che nel 2013, con una rapida ricerca su Internet, non si trovava da nessuna parte bibliografia in greco, o almeno le testimonianze di genitori e parenti, su questa sindrome. Cos\u00ec \u00e8 nata l\u2019esigenza di creare una piccola comunit\u00e0. Da un lato speravo che fossimo gli unici in Grecia ad aver conosciuto la sindrome di Kleefstra. D\u2019altra parte, se fosse esistita anche solo un\u2019altra famiglia, avrei voluto che potesse trovarci, sapere che c\u2019\u00e8 qualcuno che capisce e che potessimo entrare in contatto. Quando condividi la tua vita con qualcun altro che ha lo stesso problema o uno simile, ti rendi conto che ci sono modi migliori o peggiori di affrontare la situazione, o qualche aspetto in pi\u00f9 che a te era sfuggito. Puoi aiutare ed essere aiutato da una famiglia che sa molto bene cosa stai passando ed \u00e8 in qualche modo confortante sapere che non sei l\u2019unico a vivere tutto questo.<\/p>\n\n\n\n

Inoltre, data la rarit\u00e0 della sindrome, le conoscenze specialistiche non erano, e non sono sempre, facilmente accessibili, il che pu\u00f2 ritardare l\u2019invio del paziente a un esame genetico adeguato<\/p>\n\n\n\n

Personalmente, le crisi epilettiche di Christina mi hanno spinto ad approfondire il tema dell\u2019epilessia e ora mi occupo di ricerca<\/a> nell'elettroencefalogramma per lo studio delle patologie neurologiche. Nella mia attivit\u00e0 di ricerca mi occupo dello sviluppo e della valutazione di metodi di apprendimento automatico e di intelligenza artificiale a supporto dello studio delle patologie neurologiche e di altre patologie.<\/p>\n<\/div>\n\n\n\n

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\"\"<\/figure>\n<\/div>\n<\/div>\n\n\n\n

Negli ultimi anni il panorama della ricerca su Kleefstra sta cambiando a un ritmo che non si vedeva quando \u00e8 stato creato questo sito web.<\/p>\n\n\n\n

Ormai sappiamo molto di pi\u00f9 sulla gamma delle sue variazioni EHMT1<\/em>, lo sviluppo e la comunicazione, il sonno, l\u2019epilessia, la salute mentale e la possibile perdita di abilit\u00e0. Ora so che non siamo soli in Grecia e spero che ci\u00f2 che vi confido vi dia coraggio, fiducia e, soprattutto, informazioni su cosa significhi vivere in Grecia con un figlio affetto dalla sindrome di Kleefstra.<\/p>\n\n\n\n

Anche ora che nostro figlio \u00e8 un angelo, mi farebbe molto piacere se ci contattaste. <\/p>","protected":false},"excerpt":{"rendered":"

\u039f\u03bd\u03bf\u03bc\u03ac\u03b6\u03bf\u03bc\u03b1\u03b9 \u039a\u03b1\u03c4\u03b5\u03c1\u03af\u03bd\u03b1 \u03a4\u03b6\u03b7\u03bc\u03bf\u03cd\u03c1\u03c4\u03b1 (Katerina Tzimourta) \u03ba\u03b1\u03b9 \u03b5\u03af\u03bc\u03b1\u03b9 \u03b7 \u03b8\u03b5\u03af\u03b1 \u03c4\u03b7\u03c2 \u03a7\u03c1\u03b9\u03c3\u03c4\u03af\u03bd\u03b1\u03c2 \u03c0\u03bf\u03c5 \u03c4\u03bf\u03bd \u0399\u03bf\u03cd\u03bd\u03b9\u03bf \u03c4\u03bf\u03c5…<\/p>","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_coblocks_attr":"","_coblocks_dimensions":"","_coblocks_responsive_height":"","_coblocks_accordion_ie_support":"","footnotes":""},"class_list":["post-819","page","type-page","status-publish","hentry"],"yoast_head":"\n\u03a3\u03c7\u03b5\u03c4\u03b9\u03ba\u03ac \u03bc\u03b5 \u03b5\u03bc\u03ad\u03bd\u03b1 - \u03a4\u03bf \u03a3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf Kleefstra<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/kleefstrasyndrome.com\/it\/chi-sono\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"\u03a3\u03c7\u03b5\u03c4\u03b9\u03ba\u03ac \u03bc\u03b5 \u03b5\u03bc\u03ad\u03bd\u03b1 - 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