http://csi2009.net Devoted to Children with Learning Disabilities Fri, 16 Jan 2009 09:53:28 +0000 en hourly 1 http://wordpress.org/?v=3.2.1 http://csi2009.net/2008/11/new-genetic-link-for-developmental-language-disorders.html http://csi2009.net/2008/11/new-genetic-link-for-developmental-language-disorders.html#comments Thu, 06 Nov 2008 17:40:53 +0000 Dr. Beena Johnson http://csi2009.net/?p=64 Upto 40% of refererals to paediatric services could be due to developmental disorders of speech, language and communication. Mutations affecting the FOXP2 transcription factor can cause a monogenic speech and language disorder. A recent study by Vernes et al, reported in the New England Journal of Medicine found that FOXP2 binds to and downregulates CNTNAP2 gene that encodes a neurexin. CNTNAP2 polymorphisms in children with typical specific language impairment had significant association with nonsense-word repetition, which is a heritable behavioral marker of this disorder. This genetic locus is also associated with language delays in children with autism. They concluded that FOXP2-CNTNAP2 pathway provides a mechanistic link between clinically distinct syndromes involving disrupted language. The study subjects were members of families identified by the Specific Language Impairment Consortium. Specific Language Impairment Consortium is a group of researchers from Universities of Oxford, Cambridge, Manchester and Aberdeen and Guys Hospital, London, United Kingdom, interested in investigating the genetic contributions to common language disorders.

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