Alta prevalencia de trastorno específico de lenguaje en isla Robinson Crusoe y probable efecto fundador

Pía Villanueva B., Zulema De Barbieri, Hernán M. Palomino, Hernán Palomino

Resultado de la investigación: Contribución a una revistaArtículorevisión exhaustiva

21 Citas (Scopus)

Resumen

Background: Specific language impairment (SLI) occurs in 2% to 8% of preschool children. Major and candidate genes are probably involved. Genetic drift is a cause for the presence of high frequencies of deleterious alleles of a specific disease and the founder effect is one of its forms. Robinson Crusoe Island has 633 inhabitants and its actual population began with 8 families that repopulated the island at the end of XIXth century. Aim: To assess the frequency of specific language impairment among children living in Robinson Crusoe Island. Material and methods: All 66 children aged between 3 and 9 years living in the island, were studied. Parents were interviewed and in children, non verbal intelligence, audiometric parameters, comprehension and expression of oral language were assessed. Extended genealogies were also performed. Results: Forty children had at least one parent that was descending of founder families. Among these, 35% had SLI. Eighth five percent of SLI affected children came from the same colonizer family. Conclusions: The prevalence of SLI in Robinson Crusoe Island is higher than that reported in mainland Chile and abroad. This high prevalence, associated to a high frequency of consanguinity, supports the influence of genetic mechanisms in SLI transmission, based on a founder effect.

Título traducido de la contribuciónHigh prevalence of specific language impairment in Robinson Crusoe Island. A possible founder effect
Idioma originalEspañol
Páginas (desde-hasta)186-192
Número de páginas7
PublicaciónRevista Medica de Chile
Volumen136
N.º2
EstadoPublicada - feb 2008

Palabras clave

  • Consanguinity
  • Founder effect
  • Language development disorders

Áreas temáticas de ASJC Scopus

  • Medicina (todo)

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