{"id":4743,"date":"2023-01-04T12:15:04","date_gmt":"2023-01-04T11:15:04","guid":{"rendered":"https:\/\/www.pharmacie-homeopathie.com\/blog\/?p=4743"},"modified":"2023-01-04T12:16:04","modified_gmt":"2023-01-04T11:16:04","slug":"syndrome-d-angelman","status":"publish","type":"post","link":"https:\/\/www.pharmacie-homeopathie.com\/blog\/syndrome-d-angelman\/","title":{"rendered":"Le syndrome d\u2019Angelman"},"content":{"rendered":"<h1>Le syndrome d\u2019Angelman<\/h1>\n<p>Le <strong>syndrome d\u2019Angelman<\/strong> a \u00e9t\u00e9 d\u00e9crit la premi\u00e8re fois en 1965 par le Docteur Harry Angelman qui lui donna ainsi son nom.\u00a0D\u2019origine g\u00e9n\u00e9tique li\u00e9e \u00e0 des mutations sur la zone 15q11 er q12 , il se caract\u00e9rise par un d\u00e9ficit mental plus ou moins important, un comportement caract\u00e9ristique et parfois un visage sp\u00e9cifique.<\/p>\n<h2>Ce syndrome touche 1 personne sur 15 000 et autant les gar\u00e7ons que les filles.<\/h2>\n<p>Le syndrome d&#8217;Angelman est une maladie neuro-g\u00e9n\u00e9tique rare qui provoque des retards de d\u00e9veloppement et une d\u00e9ficience intellectuelle.. Il faut bien retenir que, dans les maladies g\u00e9n\u00e9tiques repr\u00e9sentant 80 % des maladies rares, l\u2019expression clinique peut varier d\u2019une personne \u00e0 une autre. En r\u00e9sum\u00e9, une m\u00eame mutation ou s\u00e9ries de mutations n\u2019entraineront pas le m\u00eame tableau clinique ou \u00e0 des niveaux de s\u00e9v\u00e9rit\u00e9 diff\u00e9rents.<\/p>\n<h3>Le diagnostique se fait en deux \u00e9tapes.<\/h3>\n<p>La premi\u00e8re \u00e9tape est clinique. On peut diagnostiquer un b\u00e9b\u00e9 entre 6 mois et 1 an, m\u00eame si la majorit\u00e9 des diagnostics se font apr\u00e8s l\u2019\u00e2ge d\u2019un an ( au moment de l\u2019acquisition de la marche et des premiers mots).<br \/>\n<strong>B\u00e9b\u00e9<\/strong> n\u2019arrive pas \u00e0 acqu\u00e9rir la position assise. Il aura du mal \u00e0 saisir les objets. Il sera agit\u00e9 et se r\u00e9veillera fr\u00e9quemment la nuit. Il apparaitra un retard de croissance entre 6 et 12 mois et un petit p\u00e9rim\u00e8tre cr\u00e2nien (microc\u00e9phalie).\u00a0 En g\u00e9n\u00e9ral un enfant qui ne marche pas et qui a des tremblements permet au m\u00e9decin d\u2019\u00e9voquer le syndrome d\u2019Angelman.<\/p>\n<h4>On retrouvera syst\u00e9matiquement\u00a0:<\/h4>\n<ul>\n<li>Un d\u00e9ficit mental, un retard de d\u00e9veloppement moteur.<\/li>\n<li>Une hyperactivit\u00e9, une faible capacit\u00e9 \u00e0 se concentrer, des battements des avants bras.<\/li>\n<li>Une absence du langage.<\/li>\n<li>Une d\u00e9marche raide et saccad\u00e9e.<\/li>\n<li>Une capacit\u00e9 \u00e0 rire facilement.<\/li>\n<\/ul>\n<p>On a longtemps confondu le syndrome d\u2019Angelman avec l\u2019autisme. Mais les enfants atteints de ce syndrome n\u2019ont pas de troubles de la communication. Ils interagissent avec le monde ext\u00e9rieur et expriment leurs \u00e9motions.<\/p>\n<h4>D\u2019autres signes cliniques peuvent appara\u00eetre.<\/h4>\n<ul>\n<li>Crises d\u2019\u00e9pilepsie.<\/li>\n<li>Troubles du sommeil.<\/li>\n<li>Un visage caract\u00e9ristique.<\/li>\n<li>Un strabisme.<\/li>\n<li>Une tendance \u00e0 prendre du poids.<\/li>\n<\/ul>\n<p>Plus le diagnostic est rapide, plus la prise en charge est pr\u00e9coce, plus le qualit\u00e9 de vie de l\u2019enfant en sera am\u00e9lior\u00e9\u00a0: kin\u00e9sith\u00e9rapeute, psychomotricit\u00e9, traitements comportementaux, etc\u2026<br \/>\nApr\u00e8s l\u2019analyse clinique, il est n\u00e9cessaire de faire une analyse g\u00e9n\u00e9tique pour confirmer le diagnostic.\u00a0 En effet, le syndrome d\u2019Angelman peut se confondre avec d\u2019autres maladies\u00a0: syndrome de Rett, syndrome de Mowat-Wilson, syndrome de Pitt-Hopkins ou encore syndrome ATRX.<\/p>\n<p><strong>Pour en savoir plus\u00a0:<\/strong><\/p>\n<ul>\n<li>Maladies Rares Infos Services\u00a0: 0800 40 40 43<\/li>\n<li><a title=\"Association Fran\u00e7aise du Syndrome d\u2019Angelman\" href=\"http:\/\/www.angelman-afsa.org\" target=\"_blank\" rel=\"nofollow noopener\">Association Fran\u00e7aise du Syndrome d\u2019Angelman<\/a><\/li>\n<li><a href=\"https:\/\/www.orpha.net\/data\/patho\/Pub\/fr\/Angelman-FRfrPub90v01.pdf\" target=\"_blank\" rel=\"nofollow noopener\">Orphanet<\/a><\/li>\n<li><a title=\"Fili\u00e8re Anddi-rares\" href=\"http:\/\/anddi-rares.org\/\" target=\"_blank\" rel=\"noopener\">Fili\u00e8re Anddi-rares<\/a><\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Le syndrome d\u2019Angelman Le syndrome d\u2019Angelman a \u00e9t\u00e9 d\u00e9crit la premi\u00e8re fois en 1965 par le Docteur Harry Angelman qui lui donna ainsi son nom.\u00a0D\u2019origine g\u00e9n\u00e9tique<span class=\"excerpt-hellip\"> [\u2026]<\/span><\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[409],"tags":[],"class_list":["post-4743","post","type-post","status-publish","format-standard","hentry","category-maladies-rares"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.6 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Le syndrome d\u2019Angelman - Maladie rare<\/title>\n<meta name=\"description\" content=\"Le syndrome d\u2019Angelman a \u00e9t\u00e9 d\u00e9crit la premi\u00e8re fois en 1965 par le Docteur Harry Angelman qui lui donna ainsi son nom.\u00a0\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.pharmacie-homeopathie.com\/blog\/syndrome-d-angelman\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Le syndrome d\u2019Angelman - Maladie rare\" \/>\n<meta property=\"og:description\" content=\"Le syndrome d\u2019Angelman a \u00e9t\u00e9 d\u00e9crit la premi\u00e8re fois en 1965 par le Docteur Harry Angelman qui lui donna ainsi son nom.\u00a0\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.pharmacie-homeopathie.com\/blog\/syndrome-d-angelman\/\" \/>\n<meta property=\"og:site_name\" content=\"HOMEO EXPERT\u00ae\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/HomeoExpert\/\" \/>\n<meta property=\"article:author\" content=\"https:\/\/www.facebook.com\/HomeoExpert\" \/>\n<meta property=\"article:published_time\" content=\"2023-01-04T11:15:04+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2023-01-04T11:16:04+00:00\" \/>\n<meta name=\"author\" content=\"H\u00e9l\u00e8ne Gaillard - Pharmacienne \u00e0 la PHC\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HBerrueGaillard\" \/>\n<meta name=\"twitter:site\" content=\"@PharmaHomeo\" \/>\n<meta name=\"twitter:label1\" content=\"\u00c9crit par\" \/>\n\t<meta name=\"twitter:data1\" content=\"H\u00e9l\u00e8ne Gaillard - Pharmacienne \u00e0 la PHC\" \/>\n\t<meta name=\"twitter:label2\" content=\"Dur\u00e9e de lecture estim\u00e9e\" \/>\n\t<meta name=\"twitter:data2\" content=\"2 minutes\" \/>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Le syndrome d\u2019Angelman - Maladie rare","description":"Le syndrome d\u2019Angelman a \u00e9t\u00e9 d\u00e9crit la premi\u00e8re fois en 1965 par le Docteur Harry Angelman qui lui donna ainsi son nom.\u00a0","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/www.pharmacie-homeopathie.com\/blog\/syndrome-d-angelman\/","og_locale":"fr_FR","og_type":"article","og_title":"Le syndrome d\u2019Angelman - Maladie rare","og_description":"Le syndrome d\u2019Angelman a \u00e9t\u00e9 d\u00e9crit la premi\u00e8re fois en 1965 par le Docteur Harry Angelman qui lui donna ainsi son nom.\u00a0","og_url":"https:\/\/www.pharmacie-homeopathie.com\/blog\/syndrome-d-angelman\/","og_site_name":"HOMEO EXPERT\u00ae","article_publisher":"https:\/\/www.facebook.com\/HomeoExpert\/","article_author":"https:\/\/www.facebook.com\/HomeoExpert","article_published_time":"2023-01-04T11:15:04+00:00","article_modified_time":"2023-01-04T11:16:04+00:00","author":"H\u00e9l\u00e8ne Gaillard - Pharmacienne \u00e0 la PHC","twitter_card":"summary_large_image","twitter_creator":"@HBerrueGaillard","twitter_site":"@PharmaHomeo","twitter_misc":{"\u00c9crit par":"H\u00e9l\u00e8ne Gaillard - Pharmacienne \u00e0 la PHC","Dur\u00e9e de lecture estim\u00e9e":"2 minutes"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/syndrome-d-angelman\/#article","isPartOf":{"@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/syndrome-d-angelman\/"},"author":{"name":"H\u00e9l\u00e8ne Gaillard - Pharmacienne \u00e0 la PHC","@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/#\/schema\/person\/da8c737b6b3ffd91c8a027a379df93c4"},"headline":"Le syndrome d\u2019Angelman","datePublished":"2023-01-04T11:15:04+00:00","dateModified":"2023-01-04T11:16:04+00:00","mainEntityOfPage":{"@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/syndrome-d-angelman\/"},"wordCount":482,"commentCount":0,"publisher":{"@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/#organization"},"articleSection":["Un jour \u2013 une maladie rare"],"inLanguage":"fr-FR","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/www.pharmacie-homeopathie.com\/blog\/syndrome-d-angelman\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/syndrome-d-angelman\/","url":"https:\/\/www.pharmacie-homeopathie.com\/blog\/syndrome-d-angelman\/","name":"Le syndrome d\u2019Angelman - Maladie rare","isPartOf":{"@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/#website"},"datePublished":"2023-01-04T11:15:04+00:00","dateModified":"2023-01-04T11:16:04+00:00","description":"Le syndrome d\u2019Angelman a \u00e9t\u00e9 d\u00e9crit la premi\u00e8re fois en 1965 par le Docteur Harry Angelman qui lui donna ainsi son nom.\u00a0","breadcrumb":{"@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/syndrome-d-angelman\/#breadcrumb"},"inLanguage":"fr-FR","potentialAction":[{"@type":"ReadAction","target":["https:\/\/www.pharmacie-homeopathie.com\/blog\/syndrome-d-angelman\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/syndrome-d-angelman\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Accueil","item":"https:\/\/www.pharmacie-homeopathie.com\/blog\/"},{"@type":"ListItem","position":2,"name":"Un jour \u2013 une maladie rare","item":"https:\/\/www.pharmacie-homeopathie.com\/blog\/category\/maladies-rares\/"},{"@type":"ListItem","position":3,"name":"Le syndrome d\u2019Angelman"}]},{"@type":"WebSite","@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/#website","url":"https:\/\/www.pharmacie-homeopathie.com\/blog\/","name":"HOMEO EXPERT\u00ae","description":"Le blog de la Pharmacie Hom\u00e9opathique Centrale \u00e0 Paris","publisher":{"@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/www.pharmacie-homeopathie.com\/blog\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"fr-FR"},{"@type":"Organization","@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/#organization","name":"Pharmacie Hom\u00e9opathique Centrale Paris - PHC","url":"https:\/\/www.pharmacie-homeopathie.com\/blog\/","logo":{"@type":"ImageObject","inLanguage":"fr-FR","@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/#\/schema\/logo\/image\/","url":"https:\/\/www.pharmacie-homeopathie.com\/blog\/wp-content\/uploads\/2018\/11\/phc-logo.png","contentUrl":"https:\/\/www.pharmacie-homeopathie.com\/blog\/wp-content\/uploads\/2018\/11\/phc-logo.png","width":280,"height":113,"caption":"Pharmacie Hom\u00e9opathique Centrale Paris - PHC"},"image":{"@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/#\/schema\/logo\/image\/"},"sameAs":["https:\/\/www.facebook.com\/HomeoExpert\/","https:\/\/x.com\/PharmaHomeo","https:\/\/www.youtube.com\/channel\/UCjrIcslKFiRvnhDZ26jyXYQ","https:\/\/www.pinterest.fr\/pin\/103864335143240482\/"]},{"@type":"Person","@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/#\/schema\/person\/da8c737b6b3ffd91c8a027a379df93c4","name":"H\u00e9l\u00e8ne Gaillard - Pharmacienne \u00e0 la PHC","image":{"@type":"ImageObject","inLanguage":"fr-FR","@id":"https:\/\/www.pharmacie-homeopathie.com\/blog\/#\/schema\/person\/image\/","url":"https:\/\/secure.gravatar.com\/avatar\/62bb826f364c8f69694d23642e4dbaa9ef15bdd269e8ad2f38e407c43ba0b8ca?s=96&d=blank&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/62bb826f364c8f69694d23642e4dbaa9ef15bdd269e8ad2f38e407c43ba0b8ca?s=96&d=blank&r=g","caption":"H\u00e9l\u00e8ne Gaillard - Pharmacienne \u00e0 la PHC"},"sameAs":["https:\/\/www.facebook.com\/HomeoExpert","https:\/\/www.linkedin.com\/in\/hlne-berrue-gaillard-7668202a\/","https:\/\/x.com\/HBerrueGaillard"]}]}},"_links":{"self":[{"href":"https:\/\/www.pharmacie-homeopathie.com\/blog\/wp-json\/wp\/v2\/posts\/4743","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.pharmacie-homeopathie.com\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.pharmacie-homeopathie.com\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.pharmacie-homeopathie.com\/blog\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.pharmacie-homeopathie.com\/blog\/wp-json\/wp\/v2\/comments?post=4743"}],"version-history":[{"count":5,"href":"https:\/\/www.pharmacie-homeopathie.com\/blog\/wp-json\/wp\/v2\/posts\/4743\/revisions"}],"predecessor-version":[{"id":4748,"href":"https:\/\/www.pharmacie-homeopathie.com\/blog\/wp-json\/wp\/v2\/posts\/4743\/revisions\/4748"}],"wp:attachment":[{"href":"https:\/\/www.pharmacie-homeopathie.com\/blog\/wp-json\/wp\/v2\/media?parent=4743"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.pharmacie-homeopathie.com\/blog\/wp-json\/wp\/v2\/categories?post=4743"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.pharmacie-homeopathie.com\/blog\/wp-json\/wp\/v2\/tags?post=4743"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}