Genetic advances in the study of speech and language disorders

Neuron. 2010 Oct 21;68(2):309-20. doi: 10.1016/j.neuron.2010.10.001.


Developmental speech and language disorders cover a wide range of childhood conditions with overlapping but heterogeneous phenotypes and underlying etiologies. This characteristic heterogeneity hinders accurate diagnosis, can complicate treatment strategies, and causes difficulties in the identification of causal factors. Nonetheless, over the last decade, genetic variants have been identified that may predispose certain individuals to different aspects of speech and language difficulties. In this review, we summarize advances in the genetic investigation of stuttering, speech-sound disorder (SSD), specific language impairment (SLI), and developmental verbal dyspraxia (DVD). We discuss how the identification and study of specific genes and pathways, including FOXP2, CNTNAP2, ATP2C2, CMIP, and lysosomal enzymes, may advance our understanding of the etiology of speech and language disorders and enable us to better understand the relationships between the different forms of impairment across the spectrum.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Forkhead Transcription Factors / genetics
  • Genetic Testing / methods*
  • Genetic Variation / genetics*
  • Humans
  • Language Disorders / genetics*
  • Membrane Proteins / genetics
  • Nerve Tissue Proteins / genetics
  • Repressor Proteins / genetics
  • Speech Disorders / genetics*


  • CNTNAP2 protein, human
  • FOXP1 protein, human
  • FOXP2 protein, human
  • Forkhead Transcription Factors
  • Membrane Proteins
  • Nerve Tissue Proteins
  • Repressor Proteins