{"id":7636,"date":"2025-07-01T02:55:51","date_gmt":"2025-07-01T00:55:51","guid":{"rendered":"https:\/\/rvh-synergie.org\/actualites\/guide-offerte-pour-levaluation-genetique-des-troubles-neurodeveloppementaux-pediatriques\/"},"modified":"2025-07-01T02:55:53","modified_gmt":"2025-07-01T00:55:53","slug":"guide-offerte-pour-levaluation-genetique-des-troubles-neurodeveloppementaux-pediatriques","status":"publish","type":"post","link":"https:\/\/rvh-synergie.org\/actualites\/guide-offerte-pour-levaluation-genetique-des-troubles-neurodeveloppementaux-pediatriques\/","title":{"rendered":"Guide offerte pour l&rsquo;\u00e9valuation g\u00e9n\u00e9tique des troubles neurod\u00e9veloppementaux p\u00e9diatriques"},"content":{"rendered":"<div>\n<div class=\"article-gallery lightGallery\">\n<div data-thumb=\"https:\/\/scx1.b-cdn.net\/csz\/news\/tmb\/2025\/aap-offers-guidance-fo.jpg\" data-src=\"https:\/\/scx2.b-cdn.net\/gfx\/news\/2025\/aap-offers-guidance-fo.jpg\" data-sub-html=\"\">\n<figure class=\"article-img\">\n<\/figure><\/div>\n<\/div>\n<p>Dans un rapport clinique publi\u00e9 par l&rsquo;American Academy of Pediatrics et publi\u00e9 en ligne le 23 juin <i>P\u00e9diatrie<\/i>des orientations sont fournies pour les p\u00e9diatres concernant l&rsquo;\u00e9valuation g\u00e9n\u00e9tique du retard du d\u00e9veloppement \/ la d\u00e9ficience intellectuelle.<\/p>\n<p>Lance H. Rodan, MD, de l&rsquo;h\u00f4pital pour enfants de Boston, et des coll\u00e8gues notent que les tests g\u00e9n\u00e9tiques doivent \u00eatre s\u00e9lectionn\u00e9s par ph\u00e9notype lorsque cela est possible. Si les ant\u00e9c\u00e9dents m\u00e9dicaux, les ant\u00e9c\u00e9dents familiaux, les examens cliniques et les tests corollaire ne conduisent pas \u00e0 un diagnostic suspect\u00e9, une approche agnostique ou \u00ab\u00a0sans hypoth\u00e8se\u00a0\u00bb est propos\u00e9e. Cette approche tient compte du rendement diagnostique, du co\u00fbt et de la complexit\u00e9 des tests, et de l&rsquo;impact potentiel des r\u00e9sultats.<\/p>\n<p>Une approche agnostique \u00e0 plusieurs niveaux est propos\u00e9e sur la base du rendement diagnostique et des consid\u00e9rations pratiques: niveau 1: s\u00e9quen\u00e7age du g\u00e9nome ou exome et micror\u00e9seaux chromosomiques; Tier 2: Test fragile X et tests m\u00e9taboliques pour les erreurs inn\u00e9es du m\u00e9tabolisme; Tier 3: tests visant \u00e0 identifier les \u00e9tiologies g\u00e9n\u00e9tiques qui peuvent avoir \u00e9t\u00e9 manqu\u00e9es dans les deux premiers niveaux, notamment la prise en compte d&rsquo;un trouble d&rsquo;impression, des troubles du trinucl\u00e9otide, des tests d&rsquo;ADN mitochondrial, une \u00e9valuation du karyotype pour les r\u00e9arrangements chromosomiques \u00e9quilibr\u00e9s et un large d\u00e9pistage pour les suppressions intrag\u00e9niques qui peuvent avoir \u00e9t\u00e9 manqu\u00e9es.<\/p>\n<p>\u00ab\u00a0Les troubles g\u00e9n\u00e9tiques neurod\u00e9veloppementaux sont courants dans la population p\u00e9diatrique, et il est essentiel pour le p\u00e9diatre g\u00e9n\u00e9ral d&rsquo;avoir une approche pour leur \u00e9valuation initiale\u00a0\u00bb, \u00e9crivent les auteurs. \u00ab\u00a0L&rsquo;\u00e9tablissement d&rsquo;un diagnostic g\u00e9n\u00e9tique pr\u00e9coce offre plusieurs avantages.\u00a0\u00bb<\/p>\n<p>                                        <!-- print only --><\/p><\/div>\n","protected":false},"excerpt":{"rendered":"<p>Dans un rapport clinique publi\u00e9 par l&rsquo;American Academy of Pediatrics et publi\u00e9 en ligne le<\/p>\n","protected":false},"author":1,"featured_media":7637,"comment_status":"closed","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[86],"tags":[16,944,128,1234,5864,5863,617,8,164],"class_list":["post-7636","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-les-maladies","tag-des","tag-genetique","tag-guide","tag-levaluation","tag-neurodeveloppementaux","tag-offerte","tag-pediatriques","tag-pour","tag-troubles","generate-columns","tablet-grid-50","mobile-grid-100","grid-parent","grid-50","resize-featured-image"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.4 - 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