Children's Study Initiative

Devoted to Children with Learning Disabilities

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.