[Genetic aspects of speech disorders in children].

E A Morozova M V Belousova D V Morozov D I Gabelko V V Bogolyubova

Published in: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova (2023)

Speech disorders still remains one of the cornerstones of pediatric neurology. Against the backdrop of gene diagnostic development, there are a huge amount of information about the role of genetic and chromosomal abnormalities in pathogenesis of speech disorders. In present article authors presenting an actual data on genetic basis of different types of speech disorders. Moreover, authors describing a clinical case of a patient with genetically determined developmental disorder, caused by KMT5B mutation validated by Sanger method.

Keyphrases

copy number
genome wide
hearing loss
case report
young adults
gene expression
machine learning
electronic health record
big data
deep learning
artificial intelligence