Déficit linguistique du syndrome de charge. Étude de cas
DOI
https://doi.org/10.25267/Pragmalinguistica.2020.iextra2.13Info
Auteurs
- Juan Luis Jiménez Ruiz (ES) Universidad de Alicante
- Ángeles Palenzuela Sánchez (ES) Conselleria de Sanitat, Generalitat Valenciana
Résumé
Le syndrome de CHARGE est une entité clinique qui doit son nom à l’acronyme de plusieurs malformations congénitales; nommément Coloboma, cardiopathie, atrésie choanale, retard de croissance, hypogonadisme et anomalies auditives. Dans les deux tiers des cas, elle est due à la mutation du gène CHD7 sur le chromosome 8. Á cause de la faible incidence (1/10000 naissances vivantes) et de la morbidité variable associée à cette pathologie, il est important de procéder à un examen adéquat de celui-ci, en étudiant un cas diagnostiqué cliniquement, dans le but de mettre en évidence les déficits linguistiques qui sont également présentes dans cette pathologie et indiquent l’importance du traitement logopédie pour parvenir à une meilleure interaction communicative du patient.
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Ce travail est disponible sous licence Creative Commons Attribution - Pas d'Utilisation Commerciale - Pas de Modification 4.0 International.
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