Genomics of speech and language disorders

Abstract

Multiple factors involve speech and language. Investigating animal models, mainly through songbirds, has allowed a better understanding of the verbal communication process. Speech disorders, such as childhood apraxia of speech, dysarthria or stuttering, along with language disorders, like aphasia, dyslexia or developmental language disorder are the main examples. More complex syndromes such as Autism-spectrum disorders, Down’s syndrome or Fragile X syndrome have more variable features. Genetic factors, such as hereditary or de novo mutations may influence the development of all of these conditions. Besides, most of speech and language disorders are implicated in neurodevelopment with molecular mechanisms and pathways that interact with each other, and there may be co-morbidity with other communication disorders or phenotypes unrelated to communication. Genes with heterogeneous functions in speech and language such as FOXP1, FOXP2, KIAA0319, ROBO1, APOE or CNTNAP2 are some examples. Epigenetic factors, especially microRNAs, influence the expressiveness. The genomics of these disorders allows us to understand language acquisition, carry out early detection strategies, genetic counseling and optimize future treatments, not only in communication disorders but also the neurological alterations that incorporate these mutations.

Keywords

Genomics / epigenetic / speech / language / dysarthria / stuttering / aphasia / FOXP2

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