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Master Thesis

Intérêt et utilité du dépistage des maladies génétiques rares dans la pratique orthophonique

Abstract : Rare genetic diseases regard every medical and paramedical professions. As the screening of these diseases is not systematic, some children can escape the control of the medical staff. Thanks to his field of competences (orality, communication, language, defness), the speech therapist can play an early part with these children who haven't been diagnosed yet. An early and adapted rehabilitation is essential to give them the best possible evolution. It is then necessary to detect any clinical signs that can show a genetic disease, in order to send the child and his family to specialized consultations. Screening grids have been set up in order to help speech therapists note down and organize their observations when they meet an atypic child profile. We have studied how useful these grids are when speech therapy is concerned. 27 chidren who had been diagnosed or being under genetic tests were evaluated with these grids. The results have shown a set of positive answers that allow the screening and / or the setting up of an adapted rehabilitation project.
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Contributor : Bu Carreire Université de Bordeaux <>
Submitted on : Friday, April 15, 2016 - 11:41:19 AM
Last modification on : Wednesday, August 23, 2017 - 4:30:37 PM
Long-term archiving on: : Tuesday, November 15, 2016 - 4:16:25 AM


  • HAL Id : dumas-01302857, version 1



Amandine Feuerstein. Intérêt et utilité du dépistage des maladies génétiques rares dans la pratique orthophonique. Sciences cognitives. 2011. ⟨dumas-01302857⟩



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