Déficits lingüísticos del Síndrome de ChargeEstudio de caso

  1. Jiménez Ruiz, Juan Luis
  2. Palenzuela Sánchez, Ángeles
Journal:
Pragmalinguistica

ISSN: 1133-682X

Year of publication: 2020

Issue Title: Investigación en Lingüística Clínica

Issue: 2

Pages: 216-240

Type: Article

DOI: 10.25267/PRAGMALINGUISTICA.2020.IEXTRA2.13 DIALNET GOOGLE SCHOLAR lock_openOpen access editor

More publications in: Pragmalinguistica

Abstract

CHARGE syndrome is a clinical entity whose name comes from the acronym of several congenital defects; namely, coloboma, heart disease, Coan as 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 logo-paedic treatment for the patient to achieve a better communicative interaction.Therefore, we present here the case of a 22-year-old male patient who showed some of the features of the syndrome from an early stage of development (10 months). The case was assessed by taking into account new diagnostic criteria for the disease, that allowed early detection and timely treatment of associated morbidities. We finally explain his language deficits and the importance of logopaedic treatment.

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