{"id":229,"date":"2022-02-07T14:58:23","date_gmt":"2022-02-07T13:58:23","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?page_id=229"},"modified":"2025-04-07T11:19:43","modified_gmt":"2025-04-07T09:19:43","slug":"neurodevelopmental-disorders","status":"publish","type":"page","link":"https:\/\/ern-ithaca.eu\/fr\/our-workgroups\/neurodevelopmental-disorders\/","title":{"rendered":"Troubles neurod\u00e9veloppementaux (GT5)"},"content":{"rendered":"

Pr\u00e9sident et copr\u00e9sident du groupe de travail <\/h2>\n\n\n\n
\n
\n
\"\"<\/figure>\n<\/div>\n\n\n\n
\n

Dr Tjitske Kleefstra<\/strong>
(Rotterdam)<\/p>\n<\/div>\n\n\n\n

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

Dr Christiane Zweier <\/strong>
(Berne)<\/p>\n<\/div>\n<\/div>\n\n\n\n

<\/div>\n\n\n\n

Ce groupe de travail est consacr\u00e9 \u00e0 la am\u00e9lioration des connaissances et de la compr\u00e9hension des troubles neurod\u00e9veloppementaux g\u00e9n\u00e9tiques rares<\/strong>, qui se comptent par milliers mais sont pour la plupart peu connus. <\/p>\n\n\n\n

Il se divise en 4 groupes de travail<\/strong>: les deux premiers visent \u00e0 mettre en r\u00e9seau des experts dans les domaines respectifs du handicap intellectuel et de la psychiatrie ; les deux autres sont consacr\u00e9s \u00e0 des projets sp\u00e9cifiques : le lancement d\u2019un congr\u00e8s europ\u00e9en sans pr\u00e9c\u00e9dent sur les troubles neurod\u00e9veloppementaux rares, et la cr\u00e9ation d\u2019une base de donn\u00e9es g\u00e9n\u00e9tiques d\u00e9di\u00e9e aux troubles neurod\u00e9veloppementaux. <\/p>\n\n\n\n

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D\u00e9ficience intellectuelle (DI) et troubles du spectre autistique (TSA) <\/h2>\n\n\n\n

Le groupe de travail ID & ASD vise \u00e0 rassembler des experts et des parties prenantes du programme ERN-ITHACA qui s'attachent \u00e0 am\u00e9liorer la prise en charge des les enfants atteints d'un handicap intellectuel profond et les personnes \u00e2g\u00e9es, en mettant l'accent sur la transition et la vie quotidienne<\/strong>. Son objectif est de cr\u00e9er un cadre de collaboration permettant aux participants d'\u00e9changer leurs points de vue et leurs id\u00e9es sur la mani\u00e8re de relever les d\u00e9fis auxquels sont confront\u00e9s les patients atteints d'un handicap intellectuel profond et les personnes \u00e2g\u00e9es dans la gestion de leurs soins.  <\/p>\n\n\n\n

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Psychiatrie et g\u00e9n\u00e9tique  <\/h2>\n\n\n\n

Ce groupe de travail a pour objectif de r\u00e9unir des experts dans les domaines de la g\u00e9n\u00e9tique et de la psychopathologie afin de discuter du r\u00e9seau actuel d'\u00e9change de connaissances sur le th\u00e8me \u201c g\u00e9n\u00e9tique \u2013 psychopathologie \u201d et d'\u00e9tudier l'int\u00e9r\u00eat de mettre en place un une plateforme europ\u00e9enne durable favorisant les \u00e9changes dans ces domaines<\/strong>. Ce r\u00e9seau interne servira de base au partage des meilleures pratiques dans une perspective multidisciplinaire, y compris celle des experts par exp\u00e9rience v\u00e9cue, et permettra d\u2019identifier des pistes pour am\u00e9liorer la prise en charge des personnes atteintes de troubles neurod\u00e9veloppementaux g\u00e9n\u00e9tiques rares et confront\u00e9es \u00e0 probl\u00e8mes psychiatriques<\/strong>.\u00a0<\/p>\n\n\n\n

<\/div>\n\n\n\n

EuroNDD <\/h2>\n\n\n\n

EuroNDD est le premier atelier europ\u00e9en consacr\u00e9 aux troubles neurod\u00e9veloppementaux g\u00e9n\u00e9tiques rares. Lanc\u00e9 pour la premi\u00e8re fois en 2023, cet \u00e9v\u00e9nement a r\u00e9uni environ 250 experts \u00e0 Amsterdam, o\u00f9 ont \u00e9t\u00e9 abord\u00e9s de vastes th\u00e8mes li\u00e9s aux troubles neurod\u00e9veloppementaux, tels que la d\u00e9ficience intellectuelle, la neuropsychiatrie, le partage de donn\u00e9es et les registres, la transition des soins, les avanc\u00e9es th\u00e9rapeutiques et la recherche pr\u00e9clinique sur des mod\u00e8les animaux. La deuxi\u00e8me \u00e9dition de l'atelier s'est tenue \u00e0 Lisbonne les 4 et 5 avril 2024, et la troisi\u00e8me \u00e9dition est pr\u00e9vue en 2026, \u00e0 Varsovie.\u00a0<\/p>\n\n\n\n

Pour en savoir plus sur l'atelier : https:\/\/ern-ithaca.eu\/events\/eurondd\/<\/a>  <\/p>\n\n\n\n

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Atelier EuroNDD 2024 \u2013 Lisbonne, Portugal<\/em><\/p>\n<\/div>\n\n\n\n

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

SysNDD <\/h2>\n\n\n\n

La base de donn\u00e9es SysNDD est une base de donn\u00e9es g\u00e9n\u00e9tique en ligne pouvant \u00eatre utilis\u00e9e \u00e0 des fins diagnostiques. Elle contient un catalogue, mis \u00e0 jour manuellement, des g\u00e8nes publi\u00e9s impliqu\u00e9s dans les troubles du d\u00e9veloppement neurologique (NDD) et class\u00e9s en g\u00e8nes primaires et g\u00e8nes candidats en fonction du niveau de preuve sous-jacent. Par le biais de ce groupe de travail, ITHACA vise \u00e0 soutenir le d\u00e9veloppement de cette base de donn\u00e9es.  <\/p>\n\n\n\n

Pour en savoir plus sur SysNDD : https:\/\/ern-ithaca.eu\/documentation\/sysndd\/<\/a>  <\/p>\n\n\n\n

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