Importancia de las pruebas genéticas en la hipoacusia infantil

  1. José Ignacio Benito Orejas
  2. Fernando Benito González
  3. Juan José Tellería Orriols
Revista:
Revista ORL

ISSN: 2444-7986,  2444-7986

Ano de publicación: 2015

Volume: 6

Páxinas: 19-30

Tipo: Artigo

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Outras publicacións en: Revista ORL

Resumo

Introduction and objective: In developed countries, 60% of the neonatal hearing loss is hereditary and genetic analysis is the higher performance diagnostic procedure. With this paper we intend to demonstrate the importance of the genetic study of infant hearing loss, and the need for its implementation in Castilla y León (Spain). Material and method: We present a narrative review in which from the statements of national and international agencies responsible for ensuring the good performance of detection and early intervention of child hearing loss programs, we'll clear the unanimity of criteria regarding the need for such studies. Results: Genetic diagnosis allows understanding the cause of the deafness, establishing the possibility of specific treatment and prognosis. A general unanimous methodology, seeks to reach the etiological diagnosis that must be led by a genetics specialist who will ultimately be responsible for genetic counselling. Discussion: After applying for more than 10 years in Castilla y León (Spain) a "program of detection and early intervention of child hearing loss" and in view of the results, we consider absolutely necessary implementation of the genetic study of hearing loss, with their corresponding genetic counseling. Conclusions: There is unanimity of criteria in effectiveness and need for genetic diagnosis of infant hearing loss, we consider fundamental implementation in Castilla y León (Spain).

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Fonte de datos: Dialnet