Molecular genetic diagnosis of speech disorders in children

Abstract

Introduction. Speech disorders (SD) are one of the urgent problems of childhood neurology. Despite the long history of studying speech disorders in children, the use of modern instrumental research in the diagnosis, the use of various therapeutic techniques for their correction, scientific interest in understanding the pathogenetic foundations of these disorders remains relatively high. In recent years, much attention has been paid to studying the genetic causes of the development of this pathology. Currently, data are presented on more than 20 candidate genes that may determine isolated speech disorders or their combination with other cognitive disorders. The study of the molecular and genetic foundations of speech disorders in children will expand clinicians’ understanding of the pathogenesis of speech disorders and optimize diagnostic approaches. The aim of the study is to investigate the structure of SD and diseases and to define clinically significant nucleotide variants leading to various diseases, the phenotype of which includes SD. Materials and methods. One hundred sixty 2 to 7-year children with speech disorders aged were under observation, 93 (58.1%) girls and 67 (41.9%) boys were hospitalized into the Department of Neuropsychiatry and psychosomatic pathology and the Department of Pathology of early Childhood of the of National Medical Research Center for Children’s Health of the Ministry of Health of Russian Federation. All observed patients underwent sequencing of the clinical exome by mass parallel sequencing. Results. Sequencing the clinical exome in SD children makes it possible to detect clinically significant nucleotide variants leading to various diseases, including speech disorders. The most common speech disorders in children are clinical manifestations of hereditary diseases. In 5 (3.1%) of the observed patients, nucleotide variants were found during a molecular genetic study that can cause diseases in which speech and intellectual-mnestic disorders are among the main clinical manifestations. Conclusion. There were studied molecular genetic features of speech disorders in 160 children. The continuation of clinical studies aimed at searching for pathogenic genome variants leading to speech and intellectual-mnestic disorders in a representative sample of patients with speech disorders will resolve the issue of the feasibility of including sequencing of the clinical exome in the diagnostic algorithm of speech disorders in children.