{"id":97,"date":"2022-01-26T12:37:11","date_gmt":"2022-01-26T11:37:11","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?page_id=97"},"modified":"2026-03-16T11:49:46","modified_gmt":"2026-03-16T10:49:46","slug":"ern-ithaca-guidelines","status":"publish","type":"page","link":"https:\/\/ern-ithaca.eu\/fr\/guidelines\/ern-ithaca-guidelines\/","title":{"rendered":"Directives ERN ITHACA"},"content":{"rendered":"

Recommandations cliniques ERN-ITHACA et d\u00e9clarations de consensus d'experts<\/h2>\n\n\n\n

Recommandations de pratique clinique <\/strong>(CPG) et d\u00e9clarations de consensus d'experts<\/strong> Les \u00ab ECS \u00bb sont des recommandations 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, aux infirmiers ou \u00e0 tout autre professionnel de sant\u00e9.  <\/p>\n\n\n\n

Une guide de pratique clinique (GPC) 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

Le groupe de travail sur les lignes directrices ITHACA s'attache \u00e0 identifier, puis \u00e0 cibler un certain nombre de domaines dans lesquels l'\u00e9laboration et la mise en \u0153uvre de d\u00e9clarations consensuelles normalis\u00e9es serait le plus b\u00e9n\u00e9fique pour la communaut\u00e9 des patients et de leurs familles<\/strong> atteints de troubles du d\u00e9veloppement et d'un handicap intellectuel. <\/p>\n\n\n\n

\u00c0 ce jour, le groupe de travail a rassembl\u00e9 10 groupes d'experts pluridisciplinaires<\/strong> travailler \u00e0 la r\u00e9daction de 10 nouvelles recommandations de pratique clinique. Cinq d'entre elles ont d\u00e9j\u00e0 \u00e9t\u00e9 finalis\u00e9es. Elles peuvent \u00eatre consult\u00e9es ci-dessous :<\/p>\n\n\n\n

<\/p>\n\n\n\n

\n
\n
Beckwith-Wiedemann
syndrome<\/div>
Avril 2018<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
\n
Valproate
embryopathie<\/div>
Octobre 2018<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
\n
Cornelia de Lange
syndrome<\/div>
Juillet 2019<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n<\/div>\n\n\n\n
\n
\n
Phelan-McDermid
syndrome<\/div>
mai 2023<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
\n
Rubinstein-Taybi
syndrome<\/div>
mai 2024<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
\n
Dysraphismes spinaux chez l'enfant
et les adolescents<\/div>
F\u00e9vrier 2025<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n<\/div>\n\n\n\n
\n
\n
Kleefstra
syndrome<\/div>
janvier 2026<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
\n
Transition
\u2019 Des enfants aux adultes \u00bb
sant\u00e9<\/div>
mars 2026<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
<\/div>\n<\/div>\n\n\n\n
<\/div>\n\n\n\n

Recommandations de pratique clinique et d\u00e9clarations de consensus d'experts \u00e9labor\u00e9es conjointement par ITHACA<\/h2>\n\n\n\n

<\/p>\n\n\n\n

\n
\n
Bardet-Biedl
syndrome<\/div>
Avril 2018<\/div><\/div><\/span><\/a><\/div>\n<\/div>\n\n\n\n
<\/div>\n\n\n\n
<\/div>\n<\/div>\n\n\n\n
<\/div>\n\n\n\n

Sites Web proposant des lignes directrices et des d\u00e9clarations de consensus disponibles sur Internet<\/h2>\n\n\n\n

Outre l'\u00e9laboration de ces d\u00e9clarations de consensus, nous examinons \u00e9galement celles qui existent d\u00e9j\u00e0 dans tous les \u00c9tats membres, la mani\u00e8re dont nous pouvons en approuver le contenu et les traduire, ainsi que les moyens de garantir qu'elles touchent un public aussi large que possible. Dans cette optique, nous souhaitons vous pr\u00e9senter ci-dessous quelques guides qui, selon nous, pourraient vous \u00eatre utiles et que notre r\u00e9seau envisagera de valider \u00e0 l'avenir.<\/strong>
<\/p>\n\n\n\n

\n
\n
\"\"<\/figure>\n<\/div>\n\n\n\n
\n

Orphanet<\/h3>\n\n\n\n

Orphanet<\/a> est un site web europ\u00e9en qui propose un inventaire et une classification des maladies rares (MR), chaque entr\u00e9e \u00e9tant associ\u00e9e \u00e0 son propre code ORPHA, ainsi qu\u2019une encyclop\u00e9die d\u2019articles de synth\u00e8se r\u00e9dig\u00e9s par des experts et \u00e9valu\u00e9s par des pairs, diverses recommandations cliniques, des crit\u00e8res diagnostiques, des conseils relatifs aux tests g\u00e9n\u00e9tiques, des fiches d\u2019information sur le handicap, etc., ainsi qu\u2019un annuaire des services (cliniques, laboratoires, projets de recherche, registres, essais cliniques, associations de patients).<\/p>\n\n\n\n

ITHACA est partenaire d'ORPHANET afin de contribuer \u00e0 l'encyclop\u00e9die des maladies rares et d'enrichir ses articles concernant les maladies prises en charge par ITHACA : \u00e0 ce jour, 72 fiches ont \u00e9t\u00e9 r\u00e9vis\u00e9es et mises \u00e0 jour.<\/p>\n<\/div>\n<\/div>\n\n\n\n

\n
\n
\"\"<\/figure>\n<\/div>\n\n\n\n
\n

Genereviews<\/h3>\n\n\n\n

GeneReviews<\/a> est une ressource internationale destin\u00e9e aux professionnels de sant\u00e9, consistant en une base de donn\u00e9es en ligne contenant des articles standardis\u00e9s et \u00e9valu\u00e9s par des pairs qui d\u00e9crivent des maladies h\u00e9r\u00e9ditaires sp\u00e9cifiques. Elle a \u00e9t\u00e9 cr\u00e9\u00e9e en 1997 sous le nom de GeneClinics par Roberta A. Pagon (Universit\u00e9 de Washington) gr\u00e2ce \u00e0 un financement des National Institutes of Health. Elle se concentre principalement sur les maladies monog\u00e9niques et fournit des informations actualis\u00e9es sp\u00e9cifiques \u00e0 chaque maladie concernant le diagnostic, la prise en charge et le conseil g\u00e9n\u00e9tique. Chaque article comporte, le cas \u00e9ch\u00e9ant, des liens vers des ressources sp\u00e9cifiques \u00e0 la maladie et\/ou des ressources g\u00e9n\u00e9rales destin\u00e9es au grand public. La base de donn\u00e9es est publi\u00e9e sur le site Bookshelf du Centre national d\u2019information sur les biotechnologies (NCBI). Chaque chapitre est r\u00e9dig\u00e9 par un ou plusieurs experts de la pathologie ou de la maladie en question et fait l\u2019objet d\u2019un processus rigoureux de r\u00e9vision et d\u2019\u00e9valuation par les pairs avant d\u2019\u00eatre publi\u00e9 en ligne. Les articles sont mis \u00e0 jour tous les deux ou trois ans, ou selon les besoins, et r\u00e9vis\u00e9s d\u00e8s que des changements significatifs surviennent dans les informations cliniquement pertinentes. Ils sont consultables par auteur, titre, g\u00e8ne et nom de la maladie ou de la prot\u00e9ine, et sont accessibles gratuitement.<\/p>\n\n\n\n

Genereviews fournit des informations cliniquement pertinentes et exploitables sur le plan m\u00e9dical concernant les maladies h\u00e9r\u00e9ditaires, dans un format standardis\u00e9 de type revue scientifique, couvrant le diagnostic, la prise en charge et le conseil g\u00e9n\u00e9tique destin\u00e9s aux patients et \u00e0 leurs familles.\u00a0GeneReviews comprend actuellement pr\u00e8s de 800 chapitres, qui suivent deux formats g\u00e9n\u00e9raux : 1) des chapitres consacr\u00e9s \u00e0 un seul g\u00e8ne ou ph\u00e9notype ; 2) des aper\u00e7us r\u00e9sumant les causes g\u00e9n\u00e9tiques de maladies courantes.<\/p>\n<\/div>\n<\/div>\n\n\n\n

<\/p>\n\n\n\n

<\/p>\n\n\n\n

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

ERN-ITHACA clinical practice guidelines and experts consensus statements Clinical practice guidelines (CPGs) and experts consensus statements (ECSs) 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, nurses or any kind of health care professionals.   A CPG summarizes […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":3042,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"template-pages\/template-page-navigation-submenu.php","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-97","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"\nERN ITHACA 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\/ern-ithaca-guidelines\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ERN ITHACA Guidelines - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"ERN-ITHACA clinical practice guidelines and experts consensus statements Clinical practice guidelines (CPGs) and experts consensus statements (ECSs) are recommendations on how to diagnose and treat a medical condition. 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