{"id":8906,"date":"2026-01-23T09:57:06","date_gmt":"2026-01-23T08:57:06","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=news&#038;p=8906"},"modified":"2026-01-29T09:57:22","modified_gmt":"2026-01-29T08:57:22","slug":"first-clinical-guideline-on-kleefstra-syndrome-published","status":"publish","type":"news","link":"https:\/\/ern-ithaca.eu\/it\/events-news\/news\/first-clinical-guideline-on-kleefstra-syndrome-published\/","title":{"rendered":"Pubblicata la prima linea guida clinica sulla sindrome di Kleefstra!"},"content":{"rendered":"<p class=\"wp-block-paragraph\">\u00c8 stata pubblicata una nuova opera rivoluzionaria, volta a migliorare l'assistenza ai pazienti affetti dalla sindrome di Kleefstra in tutto il mondo. Il <strong>prima linea guida clinica<\/strong> Il test per la diagnosi della sindrome, sviluppato da un consorzio internazionale sotto l\u2019egida dell\u2019iniziativa ERN-ITHACA, \u00e8 ora disponibile per l\u2019uso nella pratica clinica.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Sindrome di Kleefstra<\/strong> (KLEFS1) \u00e8 una rara malattia neuroevolutiva monogenica caratterizzata da disabilit\u00e0 intellettiva, ritardo dello sviluppo globale e disturbo dello spettro autistico, che spesso colpisce diversi apparati e si associa a vari problemi di salute mentale e comportamentali. Nonostante la sua complessit\u00e0, le conoscenze specifiche relative a questa sindrome sono state scarse e frammentarie, determinando disparit\u00e0 nell\u2019accesso a cure basate sull\u2019evidenza.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">La nuova linea guida affronta queste sfide fornendo <strong>raccomandazioni cliniche complete e basate su dati scientifici relative a 13 argomenti,<\/strong> tra cui test genetici e consulenza genetica, salute mentale e comportamento, neurologia, disturbi del sonno, udito, vista, parola, linguaggio e comunicazione, cardiologia, crescita e metabolismo, stitichezza e sostegno ai genitori. La linea guida \u00e8 il risultato di uno sforzo collaborativo tra professionisti (clinici), ricercatori e rappresentanti dei pazienti provenienti da 15 paesi negli Stati Uniti, in Australia e in Europa.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">La pubblicazione di queste linee guida rappresenta un significativo passo avanti nel miglioramento dell\u2019assistenza alle persone affette dalla sindrome di Kleefstra. Fornendo un quadro di riferimento standardizzato per la pratica clinica, esse mirano a ridurre le disparit\u00e0 nell\u2019assistenza e a garantire che i pazienti ricevano cure specialistiche basate su prove scientifiche e incentrate sulla persona.<\/p>\n\n\n\n<div style=\"height:26px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Invito all'azione!<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Gli operatori sanitari possono consultare le linee guida e iniziare ad attuarne le raccomandazioni nella loro pratica quotidiana.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">I genitori e chi si prende cura dei bambini possono contribuire a diffondere le linee guida e informare i propri operatori sanitari della loro esistenza.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Il consorzio continuer\u00e0 a lavorare alla traduzione delle linee guida in sintesi redatte in un linguaggio semplice e ad aggiornarle secondo necessit\u00e0. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Accedi alla linea guida: https:\/\/www.sciencedirect.com\/science\/article\/pii\/S1098360026003886 Link all\u2019ERN ITHACA: https:\/\/ern-ithaca.eu\/<\/p>","protected":false},"excerpt":{"rendered":"<p>A groundbreaking new publication has been released, aiming to improve patient care for individuals with Kleefstra syndrome worldwide. The first clinical guideline for the syndrome, developed by an international consortium under the umbrella of the ERN-ITHACA, is now available for use in clinical practice. Kleefstra syndrome (KLEFS1) is a rare monogenic neurodevelopmental disorder characterized by [&hellip;]<\/p>\n","protected":false},"featured_media":0,"template":"","categories":[],"tags":[],"class_list":["post-8906","news","type-news","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.7 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>First Clinical Guideline on Kleefstra Syndrome published! - ERN ITHACA<\/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:\/\/ern-ithaca.eu\/it\/events-news\/news\/first-clinical-guideline-on-kleefstra-syndrome-published\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"First Clinical Guideline on Kleefstra Syndrome published! - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"A groundbreaking new publication has been released, aiming to improve patient care for individuals with Kleefstra syndrome worldwide. The first clinical guideline for the syndrome, developed by an international consortium under the umbrella of the ERN-ITHACA, is now available for use in clinical practice. 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