{"id":138215,"date":"2021-02-04T06:11:01","date_gmt":"2021-02-04T05:11:01","guid":{"rendered":"https:\/\/sdk.mk\/?p=138215"},"modified":"2021-02-04T06:11:01","modified_gmt":"2021-02-04T05:11:01","slug":"ju-njoftojme-me-semundjet-e-rralla-sindroma-angelman","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-sindroma-angelman\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SINDROMA ANGELMAN"},"content":{"rendered":"<div class=\"f52428582a4b906b2d2e2a7d733c7d27\" data-index=\"7\" style=\"float: none; margin:10px 0 10px 0; text-align:center;\">\n<!-- MSP Ads Asynchronous JS Tag - Generated with Revive Adserver v5.4.1 -->\r\n<ins data-revive-zoneid=\"167\" data-revive-id=\"060fdb01f6430ec164d3519234aa4967\"><\/ins>\r\n<script async src=\"\/\/panel.ads.com.mk\/www\/delivery\/asyncjs.php\"><\/script>\n<\/div>\n<p><a href=\"https:\/\/www.youtube.com\/watch?v=OVTbibK3N1k&amp;list=PLPGcigDEy-qjbp5PqAn9GhcRLTEx3PuVd&amp;index=4\" target=\"_blank\" rel=\"noopener noreferrer\"><em><strong>Angelman syndrome &#8211; Sindroma Angelman<\/strong><\/em><\/a><br \/>\nICD Q 93.5<br \/>\nPrevalenca: 1\/12.000 gjer 1\/24.000<\/p>\n<p>Sindroma Angelman \u00ebsht\u00eb \u00e7rregullim gjenetik. Specifikat e tij jan\u00eb vonesa n\u00eb zhvillim dhe v\u00ebshtir\u00ebsi neurologjike, si dhe prezenca e sulmeve epileptike. Personat me sindrom\u00ebn Angelman jan\u00eb n\u00eb disponim t\u00eb mir\u00eb dhe buz\u00ebqeshin shpesh. Zakonisht nuk zbulohet herr\u00ebt por kur prind\u00ebrit fillojn\u00eb t\u00eb hetojn\u00eb q\u00eb foshnja e tyre ka zhvillim t\u00eb vonuar, zakonisht kjo ndodh mes muajit t\u00eb gjasht\u00eb dhe t\u00eb dymb\u00ebdhjet\u00eb. Prevalenca e sindrom\u00ebs Angelman n\u00eb popullat\u00ebn e p\u00ebrgjithshme \u00ebsht\u00eb nj\u00eb n\u00eb 15.000 deri n\u00eb 20.000 lindje.<br \/>\nSindroma e ka fituar emrin nga pediatri britanik Hari Angelman, i cili i pari e ka p\u00ebrshkruar k\u00ebt\u00eb kondicion n\u00eb vitin 1965. Dr Angelman ka punuar n\u00eb nj\u00eb spital n\u00eb Anglin\u00eb veriore dhe ka trajtuar tre f\u00ebmij\u00eb me simptoma t\u00eb ngjashme. Edhe pse n\u00eb shikim t\u00eb par\u00eb dukej se ata vuajn\u00eb nga tre s\u00ebmundje t\u00eb ndryshme, Angelman ka q\u00ebn\u00eb i bindur q\u00eb p\u00ebr s\u00ebmundjen e tyre ka nj\u00eb shkak t\u00eb p\u00ebrbashk\u00ebt. Sidoqoft\u00eb, n\u00eb at\u00eb koh\u00eb ai nuk kishte prova shkencore p\u00ebr pretendimet e tij. Gjat\u00eb nj\u00eb pushimi n\u00eb Itali, Dr Angelman n\u00eb nj\u00eb muze n\u00eb Verona duke e par\u00eb piktur\u00ebn \u201eF\u00ebmija me nj\u00eb vizatim\u201c nga piktori Xhovani Fran\u00e7esko Karota, fytyra e qeshur e djaloshit e ka p\u00ebrkujtuar n\u00eb fizionomin\u00eb e pacient\u00ebve t\u00eb tij n\u00eb \u00e7astet e histeris\u00eb. Kjo piktur\u00eb e ka frym\u00ebzuar ta shkruaj artikullin e par\u00eb p\u00ebr k\u00ebt\u00eb s\u00ebmundje n\u00eb vitin 1965, nd\u00ebrsa titulli i artikullit ka qen\u00eb \u201eF\u00ebmij\u00ebt-kukulla\u201c. S\u00ebmundja m\u00eb von\u00eb mori emrin sipas tij.<\/p>\n<p>Shkaqet p\u00ebr sindrom\u00ebn Angelman:<br \/>\nShfaqja e sindrom\u00ebs Angelman \u00ebsht\u00eb e shoq\u00ebruar me anomali n\u00eb kromozomin m\u00ebm\u00ebsor 15. Sindroma Angelman \u00ebsht\u00eb e rrall\u00eb. N\u00eb t\u00eb shumt\u00ebn e rasteve, shkaku i mutacioneve gjenetike nuk dihet. Shumica e njer\u00ebzve me sindrom\u00ebn Angelman, nuk e kan\u00eb k\u00ebt\u00eb s\u00ebmundje n\u00eb familje. N\u00eb num\u00ebr t\u00eb vog\u00ebl i rasteve, mund t\u00eb trash\u00ebgohet nga prind\u00ebrit, ashtu q\u00eb n\u00eb qoft\u00eb se ekziston anamnez\u00eb familjare gjasat p\u00ebr tu shfaqur s\u00ebmundja jan\u00eb m\u00eb t\u00eb m\u00ebdha.<\/p>\n<p>Simptomat e sindrom\u00ebs Angelman:<br \/>\nKur foshnja me sindrom\u00ebn Angelman lind, nuk v\u00ebrrehen simptoma dhe shenja t\u00eb s\u00ebmundjes. Shenjat e para t\u00eb s\u00ebmundjes, vonesa n\u00eb zhvillim shfaqet m\u00eb von\u00eb \u2013 foshnja e mosh\u00ebs 6 gjer 12 muaj nuk mund t\u00eb zvarritet.<br \/>\nShenjat dhe simptomat karakteristike t\u00eb sindrom\u00ebs Angelman jan\u00eb:<br \/>\n&#8211; vones\u00eb n\u00eb zhvillim dhe retardim mendor:<br \/>\n&#8211; munges\u00eb e t\u00eb folurit apo t\u00eb folur t\u00eb vobeg\u00ebt;<br \/>\n&#8211; pamund\u00ebsi p\u00ebr t\u00eb ecur, l\u00ebvizur ose mbajtje ekuilibri;<br \/>\n&#8211; dridhje t\u00eb duarve dhe k\u00ebmb\u00ebve;<br \/>\n&#8211; buz\u00ebqeshje dhe qeshje e shpesht\u00eb pa arsye.<br \/>\n(radio jingle I njohim s\u00ebmundjet e rralla)<\/p>\n<p>Gjithashtu t\u00eb shpeshta jan\u00eb edhe sulmet epileptike t\u00eb cil\u00ebt zakonisht fillojn\u00eb mes vitit t\u00eb dyt\u00eb dhe t\u00eb tret\u00eb; l\u00ebvizje spazmatike; kok\u00eb e vog\u00ebl dhe e shesht\u00eb n\u00eb pjes\u00ebn e pasme; strabiz\u00ebm, ecje me krah\u00eb t\u00eb ngritura lart n\u00eb aj\u00ebr; nofull\u00eb e poshtme e shprehur; pigmentim i leht\u00eb i l\u00ebkur\u00ebs, flok\u00ebve dhe syve.<br \/>\nKomplikimet q\u00eb shfaqen me k\u00ebt\u00eb sindrom\u00eb jan\u00eb: v\u00ebshtir\u00ebsi n\u00eb t\u00eb ushqyer (nuk mund t\u00eb koordinojn\u00eb thithjen dhe g\u00eblltitjen); hiperaktivitet (p\u00ebrq\u00ebndrimi i v\u00ebmendjes \u00ebsht\u00eb shum\u00eb i shkurt\u00eb, kalon nga nj\u00eb aktivitet n\u00eb tjet\u00ebr, hiperaktiviteti mund t\u00eb zvog\u00eblohet me rritjen e f\u00ebmij\u00ebs dhe zakonisht nuk nevojiten medikamente); \u00e7rregullim i gjumit (kan\u00eb modele t\u00eb ndryshme t\u00eb gjumit dhe t\u00eb zgjimit, n\u00eb disa raste medikamentet mund t\u00eb ndihmojn\u00eb q\u00eb t\u00eb mbahet nj\u00eb baraspesh\u00eb); skolioz\u00eb (lakim an\u00ebsh i shtyll\u00ebs kurrizore); obezitet.<\/p>\n<p>Diagnostikimi:<br \/>\nMjeku dyshon q\u00eb b\u00ebhet fjal\u00eb p\u00ebr k\u00ebt\u00eb kondicion n\u00eb rast kur f\u00ebmija ka vonesa mendore dhe gjithashtu ka v\u00ebshtir\u00ebsi n\u00eb l\u00ebvizje dhe ekuilib\u00ebr, kok\u00eb t\u00eb vog\u00ebl dhe qeshet shum\u00eb. Konfirmimi i diagnoz\u00ebs b\u00ebhet me testim gjenetik me t\u00eb cilin mund t\u00eb zbulohen ndryshime n\u00eb kromozom.<\/p>\n<p>Trajtimi:<br \/>\nNuk ka terapi specifike. Epilepsia trajtohet me antikonvulsiv, kurse trajtimi tjeter \u00ebsht\u00eb simptomatik. Var\u00ebsisht nga simptomat, trajtimi i sindrom\u00ebs Angelman mund t\u00eb p\u00ebrfshij\u00eb:<br \/>\n&#8211; terapi fizikale &#8211; femij\u00ebt me k\u00ebt\u00eb sindrom\u00eb me rehabilitim m\u00ebsohen t\u00eb ecin m\u00eb mir\u00eb. L\u00ebvizjet dhe aktivitetet tjera u ndihmojn\u00eb t\u00eb b\u00ebhen \u201ct\u00eb pavaur\u201d p\u00ebrmes terapis\u00eb profesionale;<br \/>\n&#8211; terapia e komunikimit &#8211; edhe pse personat me sindrom\u00ebn Angelman zakonisht komunikojn\u00eb me fjali t\u00eb thjeshta, kjo terapi gjithsesi mund t\u00eb jet\u00eb e dobishme. Komunikimi joverbal mund t\u00eb zhvillohet duke p\u00ebrdorur gjuh\u00ebn e shenjave dhe fotografi;<br \/>\n&#8211; terapia bihejviorale &#8211; mund tu ndihmoj\u00eb f\u00ebmij\u00ebve me k\u00ebt\u00eb sindrom\u00eb ta tejkalojn\u00eb hiperaktivitetin dhe p\u00ebrq\u00ebndrimin e shkurt\u00ebr t\u00eb v\u00ebmendjes. Edhe pse faza e zhvillimit e personave me sindrom\u00ebn Angelman mund t\u00eb dalloj\u00eb shum\u00eb, shumica e tyre do mund t\u00eb nd\u00ebrtojn\u00eb marr\u00ebdh\u00ebnie me shoq\u00ebrin\u00eb dhe familjen.<\/p>\n\n<div style=\"font-size: 0px; height: 0px; line-height: 0px; margin: 0; padding: 0; clear: both;\"><\/div>","protected":false},"excerpt":{"rendered":"<p>Angelman syndrome &#8211; Sindroma Angelman ICD Q 93.5 Prevalenca: 1\/12.000 gjer 1\/24.000 Sindroma Angelman \u00ebsht\u00eb \u00e7rregullim gjenetik. Specifikat e tij [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":138213,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_mo_disable_npp":"no","inline_featured_image":false},"categories":[1794],"tags":[],"imageURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2021\/02\/04-Angelmanov-sindrom-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2021\/02\/04-Angelmanov-sindrom-250x141.png","categoryNames":["Uncategorized"],"feature_caption":"","subtitle":"","views":"5304","source":"\u0421\u043a\u043e\u043f\u0458\u0435, (\u0421\u0410\u041a\u0410\u041c\u0414\u0410\u041a\u0410\u0416\u0410\u041c.\u041c\u041a)","yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v15.0 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SINDROMA ANGELMAN - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c<\/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:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-sindroma-angelman\/\" \/>\n<meta property=\"og:locale\" content=\"mk_MK\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SINDROMA ANGELMAN - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c\" \/>\n<meta property=\"og:description\" content=\"Angelman syndrome &#8211; Sindroma Angelman ICD Q 93.5 Prevalenca: 1\/12.000 gjer 1\/24.000 Sindroma Angelman \u00ebsht\u00eb \u00e7rregullim gjenetik. 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