The most frequent language communication was speech, and many neurodevelopmental and genetic diseases were characterized by delayed, disorganized, or absent speech output. However, neurodevelopmental abnormalities rarely carefully characterize speech. For a study, researchers sought to contend that deep phenotyping—defined as phenotyping that was particular to speech production and not confounded with language or cognitive ability—was essential if they were to comprehend how genetic differences affect the brain regions connected to spoken language. Despite having shared neurological substrates and behavioral relationships, speech was separate from language. Investigators provided a brief taxonomy of developmental speech production disorders, emphasizing childhood apraxia of speech (a motor planning condition) and childhood dysarthria (a set of disorders of motor execution). Next, they go over the history of scientific findings of the KE family. Childhood apraxia of speech was recognized as a hereditary form of communication disability and connected to dysfunction in the FOXP2 gene. The narrative illustrates the critical role that deep phenotyping of speech production played in this ground-breaking advancement in the genetics of language and speech. The neural substrates linked to FOXP2 expression and speech production shared a great deal of overlap, which suggested that additional genes linked to speech impairment would also be expressed in nearby brain areas. Then, study group demonstrated how testable hypotheses regarding speech problems’ nature, genetics, and neurology might be produced using a physiologically correct computational model of speech production in conjunction with specific data about speech production in kids with developmental disorders. Even though speech and language were 2 separate things, certain types of developmental speech disorders in kids with neurodevelopmental disorders significantly impacted verbal communication. Therefore, thorough speech phenotyping could help them discover how genetic abnormalities affect speech development. They could do this with specialists in pediatric speech development and disorders.

Source- jneurodevdisorders.biomedcentral.com/articles/10.1186/s11689-022-09443-z

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