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

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 alíeles of a specific disease and the founder effect is one of its forms. Robinson Crusoe Island...

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Autores principales:	Villanueva,Pía, de Barbieri,Zulema, Palomino,Hernán M, Palomino,Hernán
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2008
Materias:	Consanguinity Founder effect Language development disorders
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872008000200007
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spelling	oai:scielo:S0034-988720080002000072008-07-28Alta prevalencia de trastorno específico de lenguaje en isla Robinson Crusoe y probable efecto fundadorVillanueva,Píade Barbieri,ZulemaPalomino,Hernán MPalomino,Hernán Consanguinity Founder effect Language development disorders 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 alíeles 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 ofXIXth 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 reponed 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 effectinfo:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.136 n.2 20082008-02-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872008000200007es10.4067/S0034-98872008000200007
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Consanguinity Founder effect Language development disorders
spellingShingle	Consanguinity Founder effect Language development disorders Villanueva,Pía de Barbieri,Zulema Palomino,Hernán M Palomino,Hernán Alta prevalencia de trastorno específico de lenguaje en isla Robinson Crusoe y probable efecto fundador
description	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 alíeles 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 ofXIXth 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 reponed 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
author	Villanueva,Pía de Barbieri,Zulema Palomino,Hernán M Palomino,Hernán
author_facet	Villanueva,Pía de Barbieri,Zulema Palomino,Hernán M Palomino,Hernán
author_sort	Villanueva,Pía
title	Alta prevalencia de trastorno específico de lenguaje en isla Robinson Crusoe y probable efecto fundador
title_short	Alta prevalencia de trastorno específico de lenguaje en isla Robinson Crusoe y probable efecto fundador
title_full	Alta prevalencia de trastorno específico de lenguaje en isla Robinson Crusoe y probable efecto fundador
title_fullStr	Alta prevalencia de trastorno específico de lenguaje en isla Robinson Crusoe y probable efecto fundador
title_full_unstemmed	Alta prevalencia de trastorno específico de lenguaje en isla Robinson Crusoe y probable efecto fundador
title_sort	alta prevalencia de trastorno específico de lenguaje en isla robinson crusoe y probable efecto fundador
publisher	Sociedad Médica de Santiago
publishDate	2008
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872008000200007
work_keys_str_mv	AT villanuevapia altaprevalenciadetrastornoespecificodelenguajeenislarobinsoncrusoeyprobableefectofundador AT debarbierizulema altaprevalenciadetrastornoespecificodelenguajeenislarobinsoncrusoeyprobableefectofundador AT palominohernanm altaprevalenciadetrastornoespecificodelenguajeenislarobinsoncrusoeyprobableefectofundador AT palominohernan altaprevalenciadetrastornoespecificodelenguajeenislarobinsoncrusoeyprobableefectofundador
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Alta prevalencia de trastorno específico de lenguaje en isla Robinson Crusoe y probable efecto fundador

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