Valoración pragmática del lenguaje en niños con cromosomopatías de baja prevalencia

Abstract

Chromosomopathies consist of duplications or deletions of chromosomal fragments that usually produce language impairment. However, accurate descriptions of structural and functional linguistic deficits caused by chromosomopaties are not yet available due to the low prevalence of these alterations. Our aim in this paper is to put forward a pragmatic methodology in order to assess linguistic impairment in children with low prevalence chromosomopathies. This method links structural linguistic deficits together with the pragmatic dysfunctions they cause in communication. We discuss the transcription and coding of the data with the CHILDES tools and its labeling with PREP-CORP, and we illustrate our reflections with examples from the CHROMOLANG corpus. We conclude that the pragmatic analysis of natural oral language data complements the traditional assessment through standardized tests, contributes to diagnosis, and allows speech-language clinicians to focus on strategies to achieve communication success during the intervention.