{"id":7601,"date":"2024-09-12T19:23:59","date_gmt":"2024-09-12T19:23:59","guid":{"rendered":"https:\/\/neuropediatoolkit.org\/?p=7601"},"modified":"2026-09-04T03:28:21","modified_gmt":"2026-09-04T03:28:21","slug":"7601-2","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/7601-2\/","title":{"rendered":"Angelman-like syndrome."},"content":{"rendered":"<h2>S\u00edndrome Angelman-like<\/h2>\n<p>El s\u00edndrome Angelman-like es un trastorno neurogen\u00e9tico caracterizado por una serie de signos y s\u00edntomas que se asemejan al s\u00edndrome Angelman, pero con variaciones importantes. Aunque los dos s\u00edndromes comparten muchas caracter\u00edsticas similares, existen diferencias sutiles que pueden ayudar a distinguirlos cl\u00ednicamente.<\/p>\n<h3>Contexto Cl\u00ednico<\/h3>\n<p>El s\u00edndrome Angelman-like es un trastorno neurogen\u00e9tico que afecta principalmente al desarrollo cognitivo y motor. Los pacientes suelen presentar una combinaci\u00f3n de signos como hipotonia, dificultades en el habla, comportamientos repetitivos y problemas de equilibrio.<\/p>\n<h3>Criterios Diagn\u00f3sticos<\/h3>\n<p>El diagn\u00f3stico del s\u00edndrome Angelman-like puede ser desafiante debido a la variabilidad en los signos cl\u00ednicos. Aunque las principales causas son anomal\u00edas epigen\u00e9ticas y mutaciones en el gen UBE3A, existen 10% de casos cl\u00ednicamente diagnosticados que resultan negativos en pruebas moleculares. La adquisici\u00f3n de conocimientos sobre la gen\u00e9tica del s\u00edndrome Angelman y los avances tecnol\u00f3gicos como la array comparative genomic hybridization (aCGH) y la secuenciaci\u00f3n por ensamblaje (NGS) han permitido identificar diagn\u00f3sticos alternativos en estos casos.<\/p>\n<h3>Recomendaciones Pr\u00e1cticas<\/h3>\n<ul>\n<li>Evaluaci\u00f3n detallada del historial familiar y cl\u00ednico del paciente.<\/li>\n<li>Realizaci\u00f3n de pruebas moleculares como aCGH o NGS para identificar anomal\u00edas epigen\u00e9ticas o mutaciones en el gen UBE3A.<\/li>\n<li>Consideraci\u00f3n de otros diagn\u00f3sticos alternativos si las pruebas moleculares son negativas.<\/li>\n<\/ul>\n<h2>Bibliograf\u00eda \/ PAPERS CIENT\u00cdFICOS DETECTADOS<\/h2>\n<div id=\"zotpress-a69c0257af80cb05661cc27c36848837\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">19955111<\/span>\n\t\t<span class=\"ZP_ITEM_KEY 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id=\"zp-ID-7601-19955111-FB2TX94T\" data-zp-author-date='Tan-et-al.-2014' data-zp-date-author='2014-Tan-et-al.' data-zp-date='2014' data-zp-year='2014' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Tan WH, Bird LM, Thibert RL, Williams CA. If not Angelman, what is it? a review of Angelman-like syndromes. American Journal of Medical Genetics Part A [Internet]. 2014 [cited 2015 May 29];164(4):975\u201392. Available from: <a class='zp-ItemURL' href='http:\/\/doi.wiley.com\/10.1002\/ajmg.a.36416'>http:\/\/doi.wiley.com\/10.1002\/ajmg.a.36416<\/a><\/div>\n  <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\t\t\t\t<div id=\"zp-ID-7601-19955111-ENE7V86F\" data-zp-author-date='Luk-2016' data-zp-date-author='2016-Luk' data-zp-date='2016' data-zp-year='2016' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Luk HM. Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases. 2016 [cited 2017 Oct 24]; Available from: <a class='zp-ItemURL' href='https:\/\/www.hindawi.com\/journals\/crig\/2016\/9790169\/'>https:\/\/www.hindawi.com\/journals\/crig\/2016\/9790169\/<\/a><\/div>\n  <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n\n","protected":false},"excerpt":{"rendered":"<p>Angelman-like syndrome Angelman-like syndrome is a neurogenetic disorder characterized by a series of signs and symptoms that resemble Angelman syndrome, but with important variations. Although the two syndromes share many similar characteristics, there are subtle differences that can help distinguish them clinically. Clinical Context Angelman-like syndrome is a neurogenetic disorder that affects... <\/p>\n<p class=\"link-more\"><a href=\"https:\/\/neuropediatoolkit.org\/en\/7601-2\/\" class=\"more-link\">Continue reading<span class=\"screen-reader-text\"> \"Angelman-like syndrome.\"<\/span><\/a><\/p>","protected":false},"author":1,"featured_media":7614,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[59,43,1],"tags":[],"class_list":["post-7601","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-discapacidad-intelectual","category-trastornos-del-neurodesarrollo","category-uncategorized","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/7601","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=7601"}],"version-history":[{"count":10,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/7601\/revisions"}],"predecessor-version":[{"id":8617,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/7601\/revisions\/8617"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/7614"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=7601"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=7601"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=7601"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}