The worlds of genetics and speech pathology intersect in several places: some communication disorders clearly have a genetic basis, and many genetic conditions or syndromes have an effect on speech and language. The rapid changes in the world of genetics present a challenge to health professionals in maintaining their knowledge of this field. This paper will introduce genetics terminology and concepts that are useful in understanding genetics. With particular reference to paediatric genetic conditions, three important points in relation to speech and genetics will be discussed: (i) common disorders such as specific language impairment, cleft lip/palate and dyslexia have a multifactorial basis; (ii) the study of rare single gene syndromes can further the understanding of more common multifactorial conditions, and (iii) many syndromes have a speech and language phenotype as an important feature of the condition. Speech-language pathologists play an important role in recognising these phenotypes and assisting in the process of syndrome diagnosis.

Talking genes

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