{"id":27030,"date":"2024-06-26T14:33:27","date_gmt":"2024-06-26T12:33:27","guid":{"rendered":"https:\/\/lifelonghearing.com\/?p=27030"},"modified":"2025-04-25T12:15:50","modified_gmt":"2025-04-25T12:15:50","slug":"vyznam-vcasnej-diagnostiky-usherovho-syndromu","status":"publish","type":"post","link":"https:\/\/lifelonghearing.com\/sk\/vyznam-vcasnej-diagnostiky-usherovho-syndromu\/","title":{"rendered":"V\u00fdznam v\u010dasnej diagnostiky Usherovho syndr\u00f3mu"},"content":{"rendered":"<p><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-1 fusion-flex-container nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1248px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-0 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:10px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-title title fusion-title-1 fusion-sep-none fusion-title-text fusion-title-size-one\" style=\"--awb-margin-top:0px;--awb-font-size:38px;\"><h1 class=\"fusion-title-heading title-heading-left fusion-responsive-typography-calculated\" style=\"margin:0;font-size:1em;--fontSize:38;line-height:1.3;\">V\u010dasn\u00e1 diagnostika a promptn\u00e9 poskytnutie kochle\u00e1rnych implant\u00e1tov pri Usherovom syndr\u00f3me \u2013 Pre\u010do s\u00fa tak d\u00f4le\u017eit\u00e9?<\/h1><\/div><div class=\"fusion-text fusion-text-1\"><p><strong>Ak\u00fd m\u00e1 Usherov syndr\u00f3m s\u00favis s kochle\u00e1rnymi implant\u00e1tmi a syst\u00e9mami zdravotnej starostlivosti v Eur\u00f3pe? T\u00e1to problematika bola predmetom diskusie 5. apr\u00edla 2024 na symp\u00f3ziu EURO-CIU vo Viedni.<\/strong><\/p>\n<p><em>Dominique Sturz<\/em><\/p>\n<\/div><div class=\"fusion-image-element \" style=\"--awb-caption-title-font-family:var(--h2_typography-font-family);--awb-caption-title-font-weight:var(--h2_typography-font-weight);--awb-caption-title-font-style:var(--h2_typography-font-style);--awb-caption-title-size:var(--h2_typography-font-size);--awb-caption-title-transform:var(--h2_typography-text-transform);--awb-caption-title-line-height:var(--h2_typography-line-height);--awb-caption-title-letter-spacing:var(--h2_typography-letter-spacing);\"><span class=\" fusion-imageframe imageframe-none imageframe-1 hover-type-none\"><img decoding=\"async\" width=\"1200\" height=\"520\" title=\"Female eye with long eyelashes close-up\" src=\"https:\/\/lifelonghearing.com\/sk\/wp-content\/uploads\/sites\/15\/2024\/06\/Auge-scaled-e1719405093949-1200x520-1.jpeg\" data-orig-src=\"https:\/\/lifelonghearing.com\/sk\/wp-content\/uploads\/sites\/15\/2024\/06\/Auge-scaled-e1719405093949-1200x520-1.jpeg\" alt class=\"lazyload img-responsive wp-image-31708\" srcset=\"data:image\/svg+xml,%3Csvg%20xmlns%3D%27http%3A%2F%2Fwww.w3.org%2F2000%2Fsvg%27%20width%3D%271200%27%20height%3D%27520%27%20viewBox%3D%270%200%201200%20520%27%3E%3Crect%20width%3D%271200%27%20height%3D%27520%27%20fill-opacity%3D%220%22%2F%3E%3C%2Fsvg%3E\" data-srcset=\"https:\/\/lifelonghearing.com\/sk\/wp-content\/uploads\/sites\/15\/2024\/06\/Auge-scaled-e1719405093949-1200x520-1-200x87.jpeg 200w, https:\/\/lifelonghearing.com\/sk\/wp-content\/uploads\/sites\/15\/2024\/06\/Auge-scaled-e1719405093949-1200x520-1-400x173.jpeg 400w, https:\/\/lifelonghearing.com\/sk\/wp-content\/uploads\/sites\/15\/2024\/06\/Auge-scaled-e1719405093949-1200x520-1-600x260.jpeg 600w, https:\/\/lifelonghearing.com\/sk\/wp-content\/uploads\/sites\/15\/2024\/06\/Auge-scaled-e1719405093949-1200x520-1-800x347.jpeg 800w, https:\/\/lifelonghearing.com\/sk\/wp-content\/uploads\/sites\/15\/2024\/06\/Auge-scaled-e1719405093949-1200x520-1.jpeg 1200w\" data-sizes=\"auto\" data-orig-sizes=\"(max-width: 1024px) 100vw, (max-width: 640px) 100vw, 1200px\" \/><\/span><\/div><\/div><\/div><\/div><\/div><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-2 fusion-flex-container nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1248px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-1 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:0px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-2\"><p>Pomerne ve\u013ea! Najm\u00e4 geneticky potvrden\u00e1 v\u010dasn\u00e1 diagnostika Usherovho syndr\u00f3mu m\u00e1 enormn\u00fd v\u00fdznam nielen pre postihnut\u00e9 rodiny a komunitu KI, ale aj pre mnoh\u00fdch \u010fal\u0161\u00edch akt\u00e9rov, vr\u00e1tane eur\u00f3pskych syst\u00e9mov zdravotnej starostlivosti. Pre\u010do? Odpove\u010f bola jednou z t\u00e9m tohtoro\u010dn\u00e9ho symp\u00f3zia Euro-CIU. T\u00e1to prezent\u00e1cia bola v\u00fdsledkom mojej dlhodobej asoci\u00e1cie so CIA a mnoh\u00fdch rokov medzin\u00e1rodn\u00fdch aktiv\u00edt v roli ambas\u00e1dora pre KI a Usherov syndr\u00f3m. Zatia\u013e \u010do koncom 90. rokov sme sa museli uspokoji\u0165 s pomerne n\u00e1hodnou klinickou diagn\u00f3zou hluchoty (vr\u00e1tane mojej rodiny), v s\u00fa\u010dasnosti m\u00e1me k dispoz\u00edcii \u0161tandardn\u00fd novorodeneck\u00fd skr\u00edning sluchu, ktor\u00fd u die\u0165a\u0165a po naroden\u00ed dok\u00e1\u017ee detegova\u0165 poruchu sluchu a je prv\u00fdm krokom k odpor\u00fa\u010daniu postihnut\u00fdch rod\u00edn na molekul\u00e1rno-genetick\u00e9 testovanie, ktor\u00e9 umo\u017e\u0148uje diagnostikova\u0165 Usherov syndr\u00f3m v prv\u00fdch mesiacoch \u017eivota \u2013 e\u0161te predt\u00fdm, ne\u017e sa za\u010dn\u00fa prejavova\u0165 prv\u00e9 zn\u00e1mky odumierania fotoreceptorov\u00fdch buniek. Ak\u00fd je to rozdiel?<\/p>\n<h2>Ak\u00e9 s\u00fa pr\u00ednosy v\u010dasnej diagnostiky?<\/h2>\n<p><strong>Pr\u00ednosy pre postihnut\u00e9 die\u0165a:<\/strong><\/p>\n<p>Potvrden\u00e1 v\u010dasn\u00e1 diagn\u00f3za d\u00e1va rodi\u010dom, ako zodpovedn\u00fdm osob\u00e1m, pr\u00edle\u017eitos\u0165 vytvori\u0165 optim\u00e1lne podmienky pre svoje die\u0165a a predov\u0161etk\u00fdm ho posilni\u0165 v zmysle lie\u010dby poruchy sluchu a \u010fal\u0161\u00edch sprievodn\u00fdch opatren\u00ed na podporu v\u00fdvoja \u2013 \u010do je potrebn\u00e9 zoh\u013eadni\u0165 v ich \u0161kolskom i odbornom vzdel\u00e1van\u00ed, vo\u013eno\u010dasov\u00fdch aktivit\u00e1ch, \u0161porte aj v interakci\u00e1ch s rodinou a priate\u013emi. A deti? Tie s t\u00fdm jednoducho vyrastaj\u00fa a u\u010dia sa, ako sa bez probl\u00e9mov vyrovna\u0165 s \u00fa\u010dinkami tohto zriedkav\u00e9ho ochorenia, ktor\u00e9 sa prejavuje nielen poruchou sluchu (vroden\u00e1 hluchota pri podtype 1, vroden\u00e1 porucha sluchu pri podtypoch 2 a 3 s n\u00e1slednou hluchotou), ale aj retin\u00e1lnou dystrofiou sp\u00f4sobenou pigmentovou dystrofiou sietnice (retinitis pigmentosa), ktor\u00e1 vedie v dospelosti k slepote. S\u00fa u\u0161etren\u00e9 ve\u013ek\u00e9ho \u0161oku z neskor\u0161ej n\u00e1hodnej diagn\u00f3zy v t\u00edned\u017eerskom veku, napr\u00edklad ke\u010f musia absolvova\u0165 o\u010dn\u00fd test na z\u00edskanie vodi\u010dsk\u00e9ho preukazu.<\/p>\n<p><strong>Pr\u00ednosy pre rodi\u010dov:<\/strong><\/p>\n<ul>\n<li><strong>Istota<\/strong>. A mo\u017enos\u0165 vedie\u0165 klasifikova\u0165 \u010dasto ve\u013emi znepokojuj\u00face pr\u00edznaky: porucha sluchu je sprev\u00e1dzan\u00e1 \u0161eroslepotou, poruchou zorn\u00e9ho po\u013ea (napr\u00edklad zakop\u00e1van\u00edm o predmety) a zhor\u0161enou zrakovou ostros\u0165ou (t.j. schopnos\u0165ou \u010d\u00edta\u0165), ako aj poruchami rovnov\u00e1hy pri podtype 1.<\/li>\n<li><strong>\u00da\u013eava<\/strong>. \u00da\u013eava, \u017ee ide \u201elen\u201c o Usherov syndr\u00f3m \u2013 teda o \u017eivot neohrozuj\u00faci stav \u2013 a \u017ee sa u\u017e nerozvin\u00fa \u017eiadne \u010fal\u0161ie \u201ez\u00e1hadn\u00e9\u201c a desiv\u00e9 pr\u00edznaky.<\/li>\n<li><strong>Pr\u00edprava<\/strong>. Pl\u00e1novanie je k\u013e\u00fa\u010dov\u00e9. Prij\u00edmanie vhodn\u00fdch opatren\u00ed pre ka\u017edodenn\u00fd \u017eivot a budovanie odolnosti m\u00f4\u017ee v\u00fdrazne u\u013eah\u010di\u0165 \u017eivot s Usherov\u00fdm syndr\u00f3mom.<\/li>\n<li><strong>Pl\u00e1novanie rodiny<\/strong>. Inform\u00e1cie z genetick\u00e9ho poradenstva o pravdepodobnosti, \u017ee \u010fal\u0161ie deti, in\u00ed \u010dlenovia rodiny alebo ich potomkovia m\u00f4\u017eu by\u0165 postihnut\u00ed.<\/li>\n<li><strong>Prepojenie a pr\u00edstup k odborn\u00edkom<\/strong>. S potvrdenou diagn\u00f3zou mo\u017eno nadviaza\u0165 kontakt s pr\u00edslu\u0161n\u00fdmi svojpomocn\u00fdmi skupinami a pacientsk\u00fdmi organiz\u00e1ciami, ako i s odborn\u00edkmi z oblasti medic\u00edny, vedy a v\u00fdskumu nielen v konkr\u00e9tnej krajine, ale aj po celom svete, \u010do je pri zriedkav\u00fdch ochoreniach zvy\u010dajne potrebn\u00e9 a be\u017en\u00e9. To poskytuje pr\u00edstup k odborn\u00fdm inform\u00e1ci\u00e1m, adekv\u00e1tnemu mana\u017ementu ochorenia a bud\u00facim inovat\u00edvnym form\u00e1m terapie \u010di klinick\u00fdm \u0161t\u00fadi\u00e1m, pre ktor\u00e9 je geneticky potvrden\u00e1 diagn\u00f3za podmienkou.<\/li>\n<\/ul>\n<p><strong>Pr\u00ednosy pre komunitu KI:<\/strong><\/p>\n<p>Pribli\u017ene jedna tretina g\u00e9nov zodpovedn\u00e1 za poruchy sluchu je t\u00e1, ktor\u00e1 nesie Usherov syndr\u00f3m (pod\u013ea Boston Children\u2019s Hospital). Usherov syndr\u00f3m (podtyp 1) sa vyskytuje u pribli\u017ene desiatich percent det\u00ed s vrodenou hluchotou. Viac ako polovica pr\u00edpadov kombinovan\u00e9ho sluchov\u00e9ho a zrakov\u00e9ho postihnutia alebo hluchoty a slepoty je sp\u00f4soben\u00e1 Usherov\u00fdm syndr\u00f3mom. Deti s Usherov\u00fdm syndr\u00f3mom podtypu 1 (vroden\u00e1 hluchota) a tie, ktor\u00e9 s\u00fa postihnut\u00e9 podtypmi 2 alebo 3, m\u00f4\u017eu ma\u0165 prospech z kochle\u00e1rnych implant\u00e1tov, ak nesk\u00f4r ohluchn\u00fa.<\/p>\n<p><strong>Pr\u00ednosy pre pacientov v oblasti sluchu i zraku (sietnice) a zriedkav\u00fdch chor\u00f4b:<\/strong><\/p>\n<p>Siln\u00e1 komunita pacientov s dobre prepojenou sie\u0165ou a \u00fazkou spolupr\u00e1cou s klinikami, vedou a v\u00fdskumom m\u00e1 mo\u017enos\u0165 vz\u00e1jomne sa podporova\u0165, vytv\u00e1ra\u0165 nov\u00e9 poznatky, prin\u00e1\u0161a\u0165 bud\u00facich odborn\u00edkov a akt\u00edvne sa zap\u00e1ja\u0165 do politick\u00fdch procesov, zastupova\u0165 svoje z\u00e1ujmy a pom\u00e1ha\u0165 formova\u0165 zdravotn\u00fa politiku.<\/p>\n<p><strong>Pr\u00ednosy pre kliniky, vedu a v\u00fdskum:<\/strong><\/p>\n<p>Budovanie odborn\u00fdch znalost\u00ed nielen o samotnej chorobe, ale aj o mana\u017emente choroby, lie\u010debn\u00fdch postupoch, odpor\u00fa\u010daniach do odborn\u00fdch centier (napr\u00edklad \u010dlenom Eur\u00f3pskej referen\u010dnej sieti pre zriedkav\u00e9 o\u010dn\u00e9 choroby \u2013 European Reference Networks on Rare Eye Diseases:\u00a0<a href=\"https:\/\/www.ern-eye.eu\/\" target=\"_blank\" rel=\"noopener\">ERN-Eye<\/a>) umo\u017e\u0148uje poskytova\u0165 adekv\u00e1tnu lie\u010dbu postihnut\u00fdm. T\u00fdm sa predch\u00e1dza nespr\u00e1vnym alebo zbyto\u010dn\u00fdm lie\u010dbam a vy\u0161etreniam, \u010do zni\u017euje z\u00e1\u0165a\u017e na pacientov. Navy\u0161e s\u00fa takto syst\u00e9my zdravotnej starostlivosti vyu\u017e\u00edvan\u00e9 efekt\u00edvnej\u0161ie.<\/p>\n<p><strong>Pr\u00ednosy pre eur\u00f3pske syst\u00e9my zdravotnej a soci\u00e1lnej starostlivosti: <\/strong><\/p>\n<p>Okrem efekt\u00edvnej\u0161ieho vyu\u017e\u00edvania m\u00f4\u017ee k\u00f3dovanie, ktor\u00e9 sprev\u00e1dza genetick\u00fa diagn\u00f3zu (ORPHA, ICD10 alebo 11), vytv\u00e1ra\u0165 registre a generova\u0165 spo\u013eahliv\u00e9 \u00fadaje a \u010d\u00edsla, ktor\u00e9 s\u00fa vidite\u013en\u00e9 v syst\u00e9moch pre postihnut\u00fdch a poskytuj\u00fa cenn\u00e9 inform\u00e1cie pre vedu a v\u00fdskum, ako aj pre na\u0161e syst\u00e9my zdravotnej starostlivosti vzh\u013eadom na pl\u00e1novanie, riadenie a pride\u013eovanie zdrojov. To plat\u00ed aj pre syst\u00e9my soci\u00e1lnej starostlivosti z h\u013eadiska pr\u00edstupu k soci\u00e1lnym d\u00e1vkam a ich v\u00fdpo\u010dtu. Toto nadobudne mimoriadny v\u00fdznam v kontexte vytv\u00e1rania Eur\u00f3pskeho priestoru pre zdravotn\u00e9 \u00fadaje (European Health Data Space: EHDS) a s\u00favisiacich d\u00e1tov\u00fdch \u00falo\u017e\u00edsk na \u00farovni \u010dlensk\u00fdch \u0161t\u00e1tov E\u00da a registrov, ktor\u00e9 sa maj\u00fa harmonizova\u0165 na nemocni\u010dnej \u00farovni. Pr\u00ednosy v\u010dasnej diagnostiky Usherovho syndr\u00f3mu potvrdenej molekul\u00e1rnou genetikou s\u00fa ove\u013ea v\u00e4\u010d\u0161ie, ne\u017e by sme o\u010dak\u00e1vali a otolaringol\u00f3govia, ktor\u00ed sa \u0161pecializuj\u00fa na sluchov\u00e9 rie\u0161enia, maj\u00fa vzh\u013eadom na tento fakt k\u013e\u00fa\u010dov\u00e9 povinnosti. D\u00fafajme, \u017ee si to uvedomuj\u00fa a \u017ee sa na ich podporu m\u00f4\u017eeme na\u010falej spolieha\u0165.<\/p>\n<\/div><div class=\"fusion-reading-box-container reading-box-container-1\" style=\"--awb-title-color:#3d3b3b;--awb-margin-top:0px;--awb-margin-bottom:84px;\"><div class=\"reading-box\" style=\"background-color:#ffffff;border-width:1px;border-color:#e0dede;border-left-width:3px;border-left-color:var(--primary_color);border-style:solid;\"><h2> <\/h2><div class=\"reading-box-description fusion-reading-box-additional\"> <\/div><div class=\"reading-box-additional\">\n<p><img decoding=\"async\" class=\"lazyload alignleft wp-image-27031 size-full\" src=\"data:image\/gif;base64,R0lGODlhAQABAAAAACH5BAEKAAEALAAAAAABAAEAAAICTAEAOw==\" data-orig-src=\"\/wp-content\/uploads\/sites\/15\/2025\/01\/Dominique.jpg\" \/>Dominique Sturz, matka dospelej dc\u00e9ry s Usherov\u00fdm syndr\u00f3mom, ktor\u00e1 bola bilater\u00e1lne implantovan\u00e1 KI v ranom detstve Kontakt CIA Usher Reprezentantka pacientov pre Usherov syndr\u00f3m a zriedkav\u00e9 choroby ePAG\u00a0<a href=\"https:\/\/www.ern-eye.eu\/\" target=\"_blank\" rel=\"noopener\">ERN-Eye<\/a>\u00a0\u2013 predsedn\u00ed\u010dka Eur\u00f3pskej skupiny reprezentantov pacientov v ERN-Eye Podpredsedn\u00ed\u010dka\u00a0<a href=\"https:\/\/www.prorare-austria.org\/\" target=\"_blank\" rel=\"noopener\">Pro Rare Austria<\/a>\u00a0\u2013 Aliancia pre zriedkav\u00e9 choroby v Rak\u00fasku<\/p>\n<\/div><div class=\"fusion-clearfix\"><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/p>\n","protected":false},"excerpt":{"rendered":"<p>V\u010dasn\u00e1 diagnostika a promptn\u00e9 poskytnutie kochle\u00e1rnych implant\u00e1tov pri Usherovom syndr\u00f3me \u2013 Pre\u010do s\u00fa tak<\/p>\n","protected":false},"author":2,"featured_media":31708,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[418],"tags":[],"class_list":["post-27030","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-veda-sk"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v24.3 - 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