{"id":773,"date":"2018-09-13T16:15:53","date_gmt":"2018-09-13T15:15:53","guid":{"rendered":"https:\/\/cristinaorozbajo.com\/quieren-relacionarse-pero-no-pueden_el-sindrome-de-phelan-mcdermid\/"},"modified":"2018-09-13T16:15:53","modified_gmt":"2018-09-13T15:15:53","slug":"volen-relacionar-se-pero-no-poden_el-sindrome-de-phelan-mcdermid","status":"publish","type":"post","link":"https:\/\/cristinaorozbajo.com\/ca\/volen-relacionar-se-pero-no-poden_el-sindrome-de-phelan-mcdermid\/","title":{"rendered":"Es volen relacionar per\u00f2 no poden_La S\u00edndrome de Phelan-McDermid."},"content":{"rendered":"

La S\u00edndrome de Phelan-McDermid (deleci\u00f3 del cromosoma 22q13) \u00e9s una condici\u00f3 gen\u00e8tica considerada malaltia rara causada en la majoria de casos per la p\u00e8rdua de material gen\u00e8tic de l'extrem terminal del cromosoma 22.<\/p>\n

Gaireb\u00e9 la totalitat dels nens afectats presenten discapacitat cognitiva amb efectes moderats a severs en laprenentatge i el llenguatge. Presenten dismorfismes facials menors, com ara ungles dels peus primes i trencadisses; mans grans i carnudes; grans peus; orelles prominents i no gaire ben formades; i altres caracter\u00edstiques que no s\u00f3n evidents a l'examen visual com a hipotonia; creixement normal o accelerat; gran toler\u00e0ncia al dolor; convulsions; estrabisme; anomalies de la medul\u00b7la espinal i visi\u00f3 central pobra.<\/p>\n

A la impossibilitat de parlar i d'evolucionar en l'aprenentatge s'hi afegeix l'autisme que en pateixen el 80%, a m\u00e9s d'hipotonia, problemes renals i cardiovasculars o manca d'habilitats motores. Aquesta malaltia no t\u00e9 cura i nom\u00e9s hi ha cures pal\u00b7liatives dels s\u00edmptomes. Les ter\u00e0pies del m\u00f3n autista solen funcionar per establir comunicacions amb fotografies, pictogrames i gestos, creant el seu propi llenguatge.<\/p>\n

\u201cVolen relacionar-se per\u00f2 no poden\u201d<\/p>\n

A Espanya nom\u00e9s hi ha 55 casos i la informaci\u00f3 que es t\u00e9 de la s\u00edndrome \u00e9s molt escassa i les fam\u00edlies estan molt soles. S'ha creat per fer-ho l'Associaci\u00f3 de la S\u00edndrome de Phelan-McDermid<\/a>, per posar en contacte totes aquestes fam\u00edlies i donar suport a projectes de recerca de la malaltia des d'Espanya creant una l\u00ednia de treball conjunta Espanya-EUA.<\/p>\n

Cristina Oroz Baix<\/strong><\/p>\n

Fonts i enlla\u00e7os d'inter\u00e8s:<\/p>\n

S\u00edndrome de Phelan-McDermidwww.22q13.org.es\/<\/a><\/p>\n

S\u00edndrome deleci\u00f3n 22q13 - Wikipedia, l'enciclop\u00e8dia lliure<\/a><\/p>\n

https:\/\/www.cuatro.com\/noticias\/sociedad\/sindrome-Phelan-McDermid-dolencia-casos-Espana_0_1592850029.html<\/a><\/p>\n

Confer\u00e8ncia 2018 \u2013 22q13.org.es \u2013 S\u00edndrome de Phelan-McDermidwww.22q13.org.es\/conferencia-2018\/<\/a><\/p>\n

<\/p>\n

 <\/p>\n

 <\/p>\n

 <\/p>\n

 <\/p>\n

 <\/p>\n

 <\/p>","protected":false},"excerpt":{"rendered":"

El S\u00edndrome de Phelan-McDermid (deleci\u00f3n del cromosoma 22q13) es una condici\u00f3n gen\u00e9tica considerada enfermedad rara causada en la mayor\u00eda de […]<\/p>\n","protected":false},"author":1,"featured_media":774,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[95,11,18,121],"tags":[123,75,124,40,125,119,126,127,128],"class_list":["post-773","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-comunidad-de-ninos-sin-limites","category-estimulacion-infantil","category-investigacion","category-metodo-vicon","tag-cognitivo","tag-desarrollo","tag-enfermedad-rara","tag-estimulacion-infantil","tag-infantil","tag-lenguaje","tag-phelan-mcdermid","tag-retraso","tag-sindrome"],"_links":{"self":[{"href":"https:\/\/cristinaorozbajo.com\/ca\/wp-json\/wp\/v2\/posts\/773","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cristinaorozbajo.com\/ca\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/cristinaorozbajo.com\/ca\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/cristinaorozbajo.com\/ca\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/cristinaorozbajo.com\/ca\/wp-json\/wp\/v2\/comments?post=773"}],"version-history":[{"count":0,"href":"https:\/\/cristinaorozbajo.com\/ca\/wp-json\/wp\/v2\/posts\/773\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/cristinaorozbajo.com\/ca\/wp-json\/wp\/v2\/media\/774"}],"wp:attachment":[{"href":"https:\/\/cristinaorozbajo.com\/ca\/wp-json\/wp\/v2\/media?parent=773"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/cristinaorozbajo.com\/ca\/wp-json\/wp\/v2\/categories?post=773"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/cristinaorozbajo.com\/ca\/wp-json\/wp\/v2\/tags?post=773"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}