{"id":6053,"date":"2024-10-29T15:50:48","date_gmt":"2024-10-29T14:50:48","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?page_id=6053"},"modified":"2026-05-06T16:22:30","modified_gmt":"2026-05-06T14:22:30","slug":"endorsed-guidelines","status":"publish","type":"page","link":"https:\/\/ern-ithaca.eu\/fr\/guidelines\/endorsed-guidelines\/","title":{"rendered":"Lignes directrices approuv\u00e9es"},"content":{"rendered":"

Recommandations de pratique clinique <\/strong>Les \u00ab CPG \u00bb (guides de pratique clinique), ou simplement \u00ab recommandations \u00bb, sont des conseils sur la mani\u00e8re de diagnostiquer et de traiter une affection m\u00e9dicale. Elles sont r\u00e9dig\u00e9es par des experts m\u00e9dicaux avec le concours de repr\u00e9sentants des patients, et s\u2019adressent aux m\u00e9decins, mais aussi aux infirmiers et \u00e0 tout autre professionnel de sant\u00e9.  <\/p>\n\n\n\n

Une recommandation r\u00e9sume les connaissances m\u00e9dicales actuelles sur une maladie donn\u00e9e, \u00e9value les avantages et les inconv\u00e9nients des proc\u00e9dures diagnostiques et des traitements, et formule des recommandations sp\u00e9cifiques sur la base de ces informations. <\/p>\n\n\n\n

Guidelines being a major clinical tool, it is crucial that they are trustworthy. The ERN-ITHACA Guidelines wokgroup is thus working on assessing the methodological quality of existing guidelines on rare diseases<\/strong>. <\/p>\n\n\n\n

Publications that the workgroup evaluates as methodologically reliable are endorsed by the ERN-ITHACA and published on this webpage.<\/strong><\/p>\n\n\n\n

\n
\n
Managing adults with 22q11.2 deletion syndrome<\/strong><\/div>
<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
\n
Managing children with 22q11.2 deletion syndrome<\/strong><\/strong><\/div>
<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
\n
Identification and treatment of Tuberous sclerosis complex-associated neuropsychiatric disorders<\/strong><\/div>
<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n<\/div>\n\n\n\n
\n
\n
Care of girls and women with Turner syndrome<\/strong><\/div>
<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
\n
Managing communication of individuals with Rett syndrome<\/strong><\/div>
<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
\n
Bardet-Biedl syndrome improved diagnosis criteria and management<\/strong><\/div>
<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n<\/div>\n\n\n\n
\n
\n
Kidney involvement in tuberous sclerosis complex<\/strong><\/strong><\/div>
<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
<\/div>\n\n\n\n
<\/div>\n<\/div>\n\n\n\n

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

Clinical practice guidelines (CPGs), or simply guidelines, are recommendations on how to diagnose and treat a medical condition. They are written by medical experts with the support of patient\u2019s representatives, and are directed to doctors, but also nurses or any other health care professionals.   A guideline summarizes the current medical knowledge on a given disease, […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":3042,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-6053","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"\nEndorsed guidelines - 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\/fr\/guidelines\/endorsed-guidelines\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Endorsed guidelines - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"Clinical practice guidelines (CPGs), or simply guidelines, are recommendations on how to diagnose and treat a medical condition. They are written by medical experts with the support of patient\u2019s representatives, and are directed to doctors, but also nurses or any other health care professionals.   A guideline summarizes the current medical knowledge on a given disease, […]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/ern-ithaca.eu\/fr\/guidelines\/endorsed-guidelines\/\" \/>\n<meta property=\"og:site_name\" content=\"ERN ITHACA\" \/>\n<meta property=\"article:modified_time\" content=\"2026-05-06T14:22:30+00:00\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:site\" content=\"@ERNIthaca\" \/>\n<meta name=\"twitter:label1\" content=\"Dur\u00e9e de lecture estim\u00e9e\" \/>\n\t<meta name=\"twitter:data1\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/guidelines\\\/endorsed-guidelines\\\/\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/guidelines\\\/endorsed-guidelines\\\/\",\"name\":\"Endorsed guidelines - ERN ITHACA\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#website\"},\"datePublished\":\"2024-10-29T14:50:48+00:00\",\"dateModified\":\"2026-05-06T14:22:30+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/guidelines\\\/endorsed-guidelines\\\/#breadcrumb\"},\"inLanguage\":\"fr-FR\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/ern-ithaca.eu\\\/guidelines\\\/endorsed-guidelines\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/guidelines\\\/endorsed-guidelines\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/ern-ithaca.eu\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Guidelines\",\"item\":\"https:\\\/\\\/ern-ithaca.eu\\\/guidelines\\\/\"},{\"@type\":\"ListItem\",\"position\":3,\"name\":\"Endorsed guidelines\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#website\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/\",\"name\":\"ERN ITHACA\",\"description\":\"WELCOME TO ERN-ITHACA WEBSITE!\",\"publisher\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/ern-ithaca.eu\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"fr-FR\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#organization\",\"name\":\"ERN-ITHACA\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"fr-FR\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/wp-content\\\/uploads\\\/2022\\\/02\\\/Logo-ERN-ITHACA.jpg\",\"contentUrl\":\"https:\\\/\\\/ern-ithaca.eu\\\/wp-content\\\/uploads\\\/2022\\\/02\\\/Logo-ERN-ITHACA.jpg\",\"width\":454,\"height\":172,\"caption\":\"ERN-ITHACA\"},\"image\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#\\\/schema\\\/logo\\\/image\\\/\"},\"sameAs\":[\"https:\\\/\\\/x.com\\\/ERNIthaca\",\"https:\\\/\\\/www.linkedin.com\\\/company\\\/ithaca-european-reference-network-on-congenital-malformations-ans-rare-intellectual-disability\\\/?viewAsMember=true\"]}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Endorsed guidelines - ERN ITHACA","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:\/\/ern-ithaca.eu\/fr\/guidelines\/endorsed-guidelines\/","og_locale":"fr_FR","og_type":"article","og_title":"Endorsed guidelines - ERN ITHACA","og_description":"Clinical practice guidelines (CPGs), or simply guidelines, are recommendations on how to diagnose and treat a medical condition. They are written by medical experts with the support of patient\u2019s representatives, and are directed to doctors, but also nurses or any other health care professionals.   A guideline summarizes the current medical knowledge on a given disease, […]","og_url":"https:\/\/ern-ithaca.eu\/fr\/guidelines\/endorsed-guidelines\/","og_site_name":"ERN ITHACA","article_modified_time":"2026-05-06T14:22:30+00:00","twitter_card":"summary_large_image","twitter_site":"@ERNIthaca","twitter_misc":{"Dur\u00e9e de lecture estim\u00e9e":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"WebPage","@id":"https:\/\/ern-ithaca.eu\/guidelines\/endorsed-guidelines\/","url":"https:\/\/ern-ithaca.eu\/guidelines\/endorsed-guidelines\/","name":"Endorsed guidelines - ERN ITHACA","isPartOf":{"@id":"https:\/\/ern-ithaca.eu\/#website"},"datePublished":"2024-10-29T14:50:48+00:00","dateModified":"2026-05-06T14:22:30+00:00","breadcrumb":{"@id":"https:\/\/ern-ithaca.eu\/guidelines\/endorsed-guidelines\/#breadcrumb"},"inLanguage":"fr-FR","potentialAction":[{"@type":"ReadAction","target":["https:\/\/ern-ithaca.eu\/guidelines\/endorsed-guidelines\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/ern-ithaca.eu\/guidelines\/endorsed-guidelines\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/ern-ithaca.eu\/"},{"@type":"ListItem","position":2,"name":"Guidelines","item":"https:\/\/ern-ithaca.eu\/guidelines\/"},{"@type":"ListItem","position":3,"name":"Endorsed guidelines"}]},{"@type":"WebSite","@id":"https:\/\/ern-ithaca.eu\/#website","url":"https:\/\/ern-ithaca.eu\/","name":"ERN ITHACA","description":"WELCOME TO ERN-ITHACA WEBSITE!","publisher":{"@id":"https:\/\/ern-ithaca.eu\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/ern-ithaca.eu\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"fr-FR"},{"@type":"Organization","@id":"https:\/\/ern-ithaca.eu\/#organization","name":"ERN-ITHACA","url":"https:\/\/ern-ithaca.eu\/","logo":{"@type":"ImageObject","inLanguage":"fr-FR","@id":"https:\/\/ern-ithaca.eu\/#\/schema\/logo\/image\/","url":"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Logo-ERN-ITHACA.jpg","contentUrl":"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Logo-ERN-ITHACA.jpg","width":454,"height":172,"caption":"ERN-ITHACA"},"image":{"@id":"https:\/\/ern-ithaca.eu\/#\/schema\/logo\/image\/"},"sameAs":["https:\/\/x.com\/ERNIthaca","https:\/\/www.linkedin.com\/company\/ithaca-european-reference-network-on-congenital-malformations-ans-rare-intellectual-disability\/?viewAsMember=true"]}]}},"_links":{"self":[{"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/pages\/6053","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/comments?post=6053"}],"version-history":[{"count":6,"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/pages\/6053\/revisions"}],"predecessor-version":[{"id":9729,"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/pages\/6053\/revisions\/9729"}],"up":[{"embeddable":true,"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/pages\/3042"}],"wp:attachment":[{"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/media?parent=6053"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}