Linguistic deficits of charge syndrome. Case study
DOI
https://doi.org/10.25267/Pragmalinguistica.2020.iextra2.13Info
Authors
- Juan Luis Jiménez Ruiz (ES) Universidad de Alicante
- Ángeles Palenzuela Sánchez (ES) Conselleria de Sanitat, Generalitat Valenciana
Abstract
CHARGE syndrome is a clinical entity whose name comes from the acronym of several congenital defects; namely, coloboma, heart disease, Coanas atresia, growth retardation, hypogonadism, and hearing defects. In two-thirds of the cases the cause is the mutation of the CHD7 gene on chromosome 8. Due to its low incidence (1/10000 live births) and the variable morbidity associated to this pathology, it is important to perform an adequate review of it, by studying a case diagnosed clinically, in order to highlight the language deficits present in this pathology and indicate the importance of logopaedic treatment for the patient to achieve a better communicative interaction.
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