{"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\/es\/our-workgroups\/neurodevelopmental-disorders\/","title":{"rendered":"Trastornos del desarrollo neurol\u00f3gico (WG5)"},"content":{"rendered":"

Presidente y copresidente del grupo de trabajo <\/h2>\n\n\n\n
\n
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\"\"<\/figure>\n<\/div>\n\n\n\n
\n

Dra. Tjitske Kleefstra<\/strong>
(R\u00f3terdam)<\/p>\n<\/div>\n\n\n\n

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

Dra. Christiane Zweier <\/strong>
(Berna)<\/p>\n<\/div>\n<\/div>\n\n\n\n

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

Este grupo de trabajo se dedica a la mejora del conocimiento y la comprensi\u00f3n de los trastornos neurol\u00f3gicos del desarrollo de origen gen\u00e9tico poco frecuentes<\/strong>, que se cuentan por miles, pero que, en su mayor\u00eda, son poco conocidas. <\/p>\n\n\n\n

Se divide en 4 grupos de trabajo<\/strong>: las dos primeras tienen como objetivo crear una red de expertos en los \u00e1mbitos de la discapacidad intelectual y la psiquiatr\u00eda, respectivamente; las otras dos se centran en proyectos espec\u00edficos: la puesta en marcha de un congreso europeo sin precedentes sobre trastornos raros del desarrollo neurol\u00f3gico y la creaci\u00f3n de una base de datos gen\u00e9tica espec\u00edfica para los trastornos del desarrollo neurol\u00f3gico. <\/p>\n\n\n\n

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

Discapacidad intelectual (DI) y trastorno del espectro autista (TEA) <\/h2>\n\n\n\n

El grupo de trabajo sobre ID y TEA tiene como objetivo reunir a expertos en ERN-ITHACA y a las partes interesadas que se centran en mejorar la gesti\u00f3n de la atenci\u00f3n para ni\u00f1os con discapacidad intelectual grave y personas mayores, con especial atenci\u00f3n a la transici\u00f3n y a la vida cotidiana<\/strong>. Su objetivo es crear un entorno colaborativo en el que los participantes puedan compartir sus opiniones e ideas sobre c\u00f3mo abordar los retos a los que se enfrentan los pacientes con discapacidad intelectual grave y las personas mayores a la hora de gestionar su atenci\u00f3n.  <\/p>\n\n\n\n

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

Psiquiatr\u00eda y gen\u00e9tica  <\/h2>\n\n\n\n

Este grupo de trabajo tiene como objetivo reunir a expertos en los campos de la gen\u00e9tica y la psicopatolog\u00eda para analizar la red actual de intercambio de conocimientos sobre \u201cgen\u00e9tica y psicopatolog\u00eda\u201d y estudiar la conveniencia de crear un una plataforma europea sostenible para el di\u00e1logo en estos \u00e1mbitos<\/strong>. Esta red interna servir\u00e1 de base para compartir las mejores pr\u00e1cticas desde un punto de vista multidisciplinar, incluida la perspectiva de los expertos por experiencia vivida, y para identificar ideas que permitan mejorar la forma en que atendemos a las personas que padecen trastornos gen\u00e9ticos raros del desarrollo neurol\u00f3gico y que se enfrentan a problemas psiqui\u00e1tricos<\/strong>.\u00a0<\/p>\n\n\n\n

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

EuroNDD <\/h2>\n\n\n\n

EuroNDD es el primer taller de la UE dedicado a los trastornos neurol\u00f3gicos del desarrollo de origen gen\u00e9tico raros. El evento se celebr\u00f3 por primera vez en 2023 y reuni\u00f3 a unos 250 expertos en \u00c1msterdam, donde se debatieron temas generales relacionados con los trastornos del desarrollo neurol\u00f3gico (NDD), como la discapacidad intelectual, la neuropsiquiatr\u00eda, el intercambio de datos y los registros, la transici\u00f3n asistencial, los avances terap\u00e9uticos y la investigaci\u00f3n precl\u00ednica en sistemas modelo. La segunda edici\u00f3n del taller se celebr\u00f3 en Lisboa los d\u00edas 4 y 5 de abril de 2024, y la tercera edici\u00f3n est\u00e1 prevista para 2026, en Varsovia.\u00a0<\/p>\n\n\n\n

Para obtener m\u00e1s informaci\u00f3n sobre el taller: https:\/\/ern-ithaca.eu\/events\/eurondd\/<\/a>  <\/p>\n\n\n\n

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Taller EuroNDD 2024 \u2013 Lisboa, 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 SysNDD es una base de datos gen\u00e9tica en l\u00ednea que puede utilizarse con fines diagn\u00f3sticos. Contiene un cat\u00e1logo, revisado manualmente, de genes publicados relacionados con los trastornos del desarrollo neurol\u00f3gico (NDD) y clasificados en genes primarios y genes candidatos seg\u00fan el grado de evidencia subyacente. A trav\u00e9s de este grupo de trabajo, la ITHACA pretende apoyar el desarrollo de la base de datos.  <\/p>\n\n\n\n

Para saber m\u00e1s sobre SysNDD: https:\/\/ern-ithaca.eu\/documentation\/sysndd\/<\/a>  <\/p>\n\n\n\n

\"\"<\/figure>\n\n\n\n
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Workgroup Chair and Co-Chair Dr Tjitske Kleefstra(Rotterdam) Dr Christiane Zweier (Berne) This workgroup is dedicated to the improvement of the knowledge and understanding of rare genetic neurodevelomental disorders, which number in the thousands but are poorly known for the most part. 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