{"id":1446,"date":"2020-02-06T12:34:16","date_gmt":"2020-02-06T12:34:16","guid":{"rendered":"https:\/\/www.asociatiaeducare.ro\/?p=1446"},"modified":"2020-02-06T12:34:16","modified_gmt":"2020-02-06T12:34:16","slug":"sindromul-angelman-ce-este-si-cum-se-manifesta","status":"publish","type":"post","link":"https:\/\/asociatiaeducare.ro\/ro\/sindromul-angelman-ce-este-si-cum-se-manifesta\/","title":{"rendered":"Sindromul Angelman: ce este \u0219i cum se manifest\u0103?"},"content":{"rendered":"<p>Numit dup\u0103 doctorul Harry Angelman, medicul englez care l-a descoperit \u0219i studiat, acest sindrom reprezint\u0103 o afec\u021biune neurogenetic\u0103 rar\u0103. Ea apare la una din 15000 de na\u0219teri vii \u0219i, foarte important, deseori, din cauza lipsei de con\u0219tientizare, este diagnosticat gre\u0219it ca paralizie cerebral\u0103 sau autism!<br \/>\n\u00cen prezent, ceea ce se cunoa\u0219te este c\u0103 sindromul Angelman poate fi cauzat de func\u021bionarea anormal\u0103 a genei UBE3A, localizat\u0103 \u00een mica regiune cunoscut\u0103 ca fiind q11-q13 ce se reg\u0103se\u0219te \u00een cromozomul #15. \u00cen cazul a aproape 70% dintre persoanele cu acest sindrom, aceast\u0103 regiune este \u0219tears\u0103 din cromozomul derivat maternal. \u00cen ceea ce prive\u0219te restul de 30 de procente, testele genetice identific\u0103 des alte anomalii care \u00eentrerup func\u021bia genei UBE3A. Pentru c\u0103, \u00een cazul persoanelor din aceast\u0103 a doua categorie, studiile genetice de laborator indic\u0103 o aparent\u0103 normalitate, diagnosticul se bazeaz\u0103 exclusiv pe concluziile clinice.<\/p>\n<h6>Speran\u021b\u0103 prin diagnostic \u0219i cercet\u0103ri:<\/h6>\n<p>Primele semne de speran\u021b\u0103 \u00een diagnosticarea \u0219i, prin urmare, pentru dezvoltarea unor forme de gestionare \u0219i \u00eengrijire, au ap\u0103rut ca rezultat al lucr\u0103rii publicate \u00een 1965 de c\u0103tre dr. Angelman.<br \/>\nDe aici, decurg 3 categorii de caracteristici clinice ale acestui sindrom \u00een func\u021bie de procentul \u00een care se reg\u0103sesc:<\/p>\n<p><em><strong>1. La 100% dintre cazuri, reg\u0103sim aceste caracteristici catalogate ca fiind consistente:<\/strong><\/em><\/p>\n<ul>\n<li>\u00eent\u00e2rziere func\u021bional\u0103 de dezvoltare sever\u0103<\/li>\n<li>insuficien\u021b\u0103 de vorbire &#8211; folosirea minim\u0103 sau deloc a cuvintelor, abilit\u0103\u021bi de comunicare receptive \u0219i non-verbale superioare celor verbale<\/li>\n<li>disfunc\u021bionalitate motric\u0103 \u0219i de echilibru- de obicei, ataxie de mers \u0219i \/ sau mi\u0219carea tremurat\u0103 a membrelor, pot ap\u0103rea \u00een comportamentul motric nelini\u0219tea, tremorul, ne\u00eendem\u00e2nare, mi\u0219c\u0103ri rapide sau sacadate<\/li>\n<li>unicitate comportamental\u0103- orice combina\u021bie de secven\u021be de r\u00e2s\/ z\u00e2mbet, comportament aparent fericit, personalitate u\u015for excitabil\u0103, adesea cu mi\u0219c\u0103ri de lovire a m\u00e2inilor \u0219i comportament hipermotoric<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<p><em><strong>2. La 80% dintre cazuri, reg\u0103sim aceste caracteristici catalogate ca fiind frecvente:<\/strong><\/em><\/p>\n<ul>\n<li>cre\u0219tere \u00eent\u00e2rziat\u0103 \u0219i dispropor\u021bionat\u0103 a circumferin\u021bei capului, de obicei, din asta, rezult\u0103 microcefalie absolut\u0103 sau relativ\u0103 la v\u00e2rsta de doi ani<\/li>\n<li>crizele, care debuteaz\u0103 de obicei la v\u00e2rste mai mici de trei ani. Gravitatea convulsiei scade de obicei odat\u0103 cu v\u00e2rsta, dar aceast\u0103 tulburare se men\u021bine de-a lungul v\u00e2rstei adulte<\/li>\n<li>anomalii \u00een EEG- prezente \u00een primii doi ani de via\u021b\u0103, pot preceda caracteristicile clinice \u0219i, deseori, nu sunt corelate cu evenimentele sau crizele clinice<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<p><em><strong>3. \u00centre 20% \u0219i 80% dintre cazuri, reg\u0103sim aceste caracteristici catalogate ca fiind asociate:<\/strong><\/em><\/p>\n<ul>\n<li>strabism<\/li>\n<li>piele hipopigmentat\u0103- p\u0103r \u0219i ochi mai deschi\u0219i la culoare comparativ cu cei din familie<\/li>\n<li>disfunc\u021bii \u00een ceea ce prive\u0219te \u00eenghi\u021birea sau suptul \u0219i la nivelul limbii<\/li>\n<li>probleme de hr\u0103nire \u0219i \/ sau hipotonie trunchial\u0103 \u00een perioada de fraged\u0103 copil\u0103rie<\/li>\n<li>mers cu pa\u0219i largi \u0219i dezordona\u021bi<\/li>\n<li>mandibul\u0103 proeminent\u0103<\/li>\n<li>reflexe hiperactive la nivelul extremit\u0103\u021bilor inferioare profunde ale tendoanelor<\/li>\n<li>sensibilitate crescut\u0103 la c\u0103ldur\u0103<\/li>\n<li>limb\u0103 proeminent\u0103 \u0219i pierdere frecvent\u0103 de saliv\u0103<\/li>\n<li>atrac\u021bie p\u00e2n\u0103 la fascina\u021bie fa\u021b\u0103 de ap\u0103<\/li>\n<li>fascina\u021bie fa\u021b\u0103 de materiale \u0219ifonabile sau u\u0219or de prelucrat, cum ar fi h\u00e2rtia sau plasticul<\/li>\n<li>flexarea \u0219i ridicarea bra\u021belor, de obicei \u00een timpul mersului<\/li>\n<li>gur\u0103 l\u0103rgit\u0103 cu spa\u021bii mari \u00eentre din\u021bi<\/li>\n<li>cicluri anormale de veghe-somn \u0219i diminuarea nevoii de somn<\/li>\n<li>comportamente excesive de mestecare sau ale activit\u0103\u021bii gurii<\/li>\n<li>canelur\u0103 occipital\u0103<\/li>\n<li>aspect plat al spatelui capului<\/li>\n<li>comportamente anormale privitoare la m\u00e2ncare<\/li>\n<li>obezitate \u00een cazul copiilor mai mari<\/li>\n<li>scolioz\u0103<\/li>\n<li>constipa\u021bie<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<p><em>sursa: angelmanbehaviors<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Numit dup\u0103 doctorul Harry Angelman, medicul englez care l-a descoperit \u0219i studiat, acest sindrom reprezint\u0103 o afec\u021biune neurogenetic\u0103 rar\u0103. Ea apare la una din 15000 de na\u0219teri vii \u0219i, foarte important, deseori, din cauza lipsei de con\u0219tientizare, este diagnosticat gre\u0219it ca paralizie cerebral\u0103 sau autism! \u00cen prezent, ceea ce se cunoa\u0219te este c\u0103 sindromul Angelman [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":1447,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[9],"tags":[112,117,113,157,159],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v19.14 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Sindromul Angelman: ce este \u0219i cum se manifest\u0103? - Asociatia Educare<\/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:\/\/asociatiaeducare.ro\/ro\/sindromul-angelman-ce-este-si-cum-se-manifesta\/\" \/>\n<meta property=\"og:locale\" content=\"ro_RO\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Sindromul Angelman: ce este \u0219i cum se manifest\u0103? - Asociatia Educare\" \/>\n<meta property=\"og:description\" content=\"Numit dup\u0103 doctorul Harry Angelman, medicul englez care l-a descoperit \u0219i studiat, acest sindrom reprezint\u0103 o afec\u021biune neurogenetic\u0103 rar\u0103. Ea apare la una din 15000 de na\u0219teri vii \u0219i, foarte important, deseori, din cauza lipsei de con\u0219tientizare, este diagnosticat gre\u0219it ca paralizie cerebral\u0103 sau autism! \u00cen prezent, ceea ce se cunoa\u0219te este c\u0103 sindromul Angelman [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/asociatiaeducare.ro\/ro\/sindromul-angelman-ce-este-si-cum-se-manifesta\/\" \/>\n<meta property=\"og:site_name\" content=\"Asociatia Educare\" \/>\n<meta property=\"article:published_time\" content=\"2020-02-06T12:34:16+00:00\" \/>\n<meta name=\"author\" content=\"Psihoped. Ruxandra Ion\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"Psihoped. 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