Mysteries of Language Disorders Might Yield to Genetic Approaches

One gene associated with a rare form of language deficit led researchers to identify another gene that might be responsible for common language impairment.

Specific language impairment affects up to 7% of children between ages 5 and 6 years, but the range of linguistic manifestations is broad and distinguishing them clinically is difficult. Genetic analysis of one family indicated that mutations of the FOXP2 gene cause a specific rare type of speech and language disorder, although the gene is not associated with more-common language impairments.

The authors of this paper hypothesized that neural pathways affected by FOXP2 might be responsible for many common language impairments. They found that FOXP2 binds to and downregulates CNTNAP2 — a gene that is expressed in the developing human cortex and in language-related brain regions and that is mutated in some cases of Tourette syndrome and autism…

Reviewing Author

Judith G. Hall, OC, MD