[{"@context":"https:\/\/schema.org\/","@type":"Article","@id":"https:\/\/www.orzan.sk\/geneticke-poruchy-u-deti\/#Article","mainEntityOfPage":"https:\/\/www.orzan.sk\/geneticke-poruchy-u-deti\/","headline":"Genetick\u00e9 poruchy u det\u00ed","name":"Genetick\u00e9 poruchy u det\u00ed","description":"Rodi\u010dia by mali by\u0165 upozornen\u00ed na dve veci: v pr\u00edpade, \u017ee die\u0165a m\u00e1 fyzick\u00e9 anom\u00e1lie (neobvykl\u00fa formu u\u0161i, prstov, o\u010di, podivn\u00fa ch\u00f4dzu, at\u010f.) – a","datePublished":"2018-07-28","dateModified":"2018-07-28","author":{"@type":"Person","@id":"https:\/\/www.orzan.sk\/author\/#Person","name":"","url":"https:\/\/www.orzan.sk\/author\/","identifier":1,"image":{"@type":"ImageObject","@id":"https:\/\/secure.gravatar.com\/avatar\/014a645f9f16d49aceddb25e316448c724bd78e7db0ee7a34c29417d5ca39ef1?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/014a645f9f16d49aceddb25e316448c724bd78e7db0ee7a34c29417d5ca39ef1?s=96&d=mm&r=g","height":96,"width":96}},"publisher":{"@type":"Organization","name":"orzan.sk","logo":{"@type":"ImageObject","@id":"\/logo.png","url":"\/logo.png","width":600,"height":60}},"image":{"@type":"ImageObject","@id":"https:\/\/www.orzan.sk\/wp-content\/uploads\/img_a291566_w16634_t1538137411.png","url":"https:\/\/www.orzan.sk\/wp-content\/uploads\/img_a291566_w16634_t1538137411.png","height":0,"width":0},"url":"https:\/\/www.orzan.sk\/geneticke-poruchy-u-deti\/","wordCount":391,"articleBody":"Rodi\u010dia by mali by\u0165 upozornen\u00ed na dve veci: v pr\u00edpade, \u017ee die\u0165a m\u00e1 fyzick\u00e9 anom\u00e1lie (neobvykl\u00fa formu u\u0161i, prstov, o\u010di, podivn\u00fa ch\u00f4dzu, at\u010f.) – a v pr\u00edpade, \u017ee odborn\u00edci nem\u00f4\u017eu zisti\u0165\u00a0 dlh\u00fa dobu\u00a0 diagn\u00f3zu.\u00a0 Pri \u017eiadnom die\u0165ati nie je po naroden\u00ed ist\u00e9, \u017ee nebude trpie\u0165\u00a0 genetick\u00fdmi probl\u00e9mami,\u00a0 ale predpoklad\u00e1 sa, \u017ee vo vysokorizikovej z\u00f3ne existuj\u00fa tieto kateg\u00f3rie:\u00b7\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Rodiny, v ktor\u00fdch u\u017e existuje die\u0165a s genetick\u00fdmi abnormalitami.\u00b7\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Matka m\u00e1 viac ako 40 rokov.\u00b7\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 V anamn\u00e9ze s\u00fa spont\u00e1nne potraty.\u00b7\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Dlhodob\u00fd kontakt rodi\u010dov s mutag\u00e9nnou \u0161kodlivos\u0165ou (o\u017eiarenie, „\u0161kodliv\u00e1“ chemick\u00e1 v\u00fdroba at\u010f.).Kone\u010dn\u00fd z\u00e1ver o diagn\u00f3ze sa uskuto\u010dn\u00ed a\u017e po konzult\u00e1cii s genetikom a\u00a0 komplexnej prehliadke die\u0165a\u0165a!Downov syndr\u00f3mToto je doteraz najviac \u0161tudovan\u00e9 genetick\u00e9 ochorenie. U det\u00ed je zn\u00ed\u017eenie svalov\u00e9ho tonusu, zaostalej motoriky, porucha vestibul\u00e1rnej funkcie. Downov syndr\u00f3m je tie\u017e charakterizovan\u00fd splo\u0161tenou tv\u00e1rou a\u00a0krkom. Tieto fyzick\u00e9 vlastnosti sa v\u0161ak m\u00f4\u017eu prejavi\u0165 v r\u00f4znej miere. A na rozdiel od v\u0161eobecn\u00e9ho presved\u010denia, deti s Downov\u00fdm syndr\u00f3mom s\u00fa \u00faplne odli\u0161n\u00e9 od seba navz\u00e1jom.Tieto deti s\u00fa zvy\u010dajne l\u00e1skypln\u00e9, umeleck\u00e9, spolo\u010densk\u00e9, s\u00fa n\u00e1chyln\u00e9 k antisoci\u00e1lnemu spr\u00e1vaniu. Deti m\u00f4\u017eu ma\u0165 odli\u0161n\u00fa \u00farove\u0148 intelektu\u00e1lneho \u00fapadku: od hlbok\u00e9ho ment\u00e1lneho zaost\u00e1vania a\u017e po mierne oneskorenie vo v\u00fdvoji. V\u00e4\u010d\u0161ina det\u00ed sa m\u00f4\u017ee v r\u00e1mci mo\u017enost\u00ed u\u010di\u0165 a spozna\u0165 \u013eud\u00ed s \u00fapadkom intelektu.Rettov syndr\u00f3mToto genetick\u00e9 ochorenie sa vyskytuje iba u diev\u010dat. Tehotenstvo a p\u00f4rod obvykle prebiehaj\u00fa bez probl\u00e9mov, novorodenci sa nel\u00ed\u0161ia od ostatn\u00fdch det\u00ed. Av\u0161ak po 1,5 – 2 rokoch doch\u00e1dza k regresii, ke\u010f sa die\u0165a prestane u\u010di\u0165 nov\u00e9 zru\u010dnosti, r\u00fdchlos\u0165 rastu a obvod hlavy kles\u00e1.V priebehu doby sa pridaj\u00fa \u010fal\u0161ie funkcie: epileptick\u00e9 z\u00e1chvaty, sp\u00e1nkov\u00e9ho apnoe, nevhodn\u00fd smiech a v\u00fdkriky, spomalenie rastu r\u00fak, n\u00f4h a hlavy.\u00a0 \u00darove\u0148 intelektu\u00e1lnej zaostalosti je odli\u0161n\u00e1, ve\u013emi dobr\u00e9 v\u00fdsledky pri pr\u00e1ci s de\u0165mi s Rettov\u00fdm syndr\u00f3mom poskytuj\u00fa kombin\u00e1cie techn\u00edk pre deti s mozgovou obrnou a met\u00f3dy pre deti s autizmom.\u00a0                                                                                                                                                                                                                                                                                                                                                                                        4.3\/5 - (7 votes)        "},{"@context":"https:\/\/schema.org\/","@type":"BreadcrumbList","itemListElement":[{"@type":"ListItem","position":1,"name":"Genetick\u00e9 poruchy u det\u00ed","item":"https:\/\/www.orzan.sk\/geneticke-poruchy-u-deti\/#breadcrumbitem"}]}]