Genes and Speech

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Autoři: doc. MUDr. Vlčková Markéta; Ph.D. ¹; Ing. Řezáčová Hana; MUDr. Tesner Pavel; PaedDr. Pospíšilová Lenka; Ph.D. ²; MUDr. Havlovicová Markéta ¹
Působiště autorů: MUDr. Pavel Tesner, Ph. D. ; MUDr. Markéta Havlovicová, Department of Biology and Medical Genetics of the, Second Faculty of Medicine of Charles University and Motol University Hospital, V Úvalu 84, 150 06, Prague 5, Czech Republic. ; Ing. Hana Řezáčová, Ph. D. ; doc. MUDr. Markéta Vlčková, Ph. D. ¹; PaedDr. Lenka Pospíšilová, Ph. D., Demosthenes – Comprehensive Pediatric Care Centre, Speech and Language Therapy Clinic, Mírová 2, 400 11 Ústí nad Labem, Czech Republic ²
Vyšlo v časopise: Listy klinické logopedie 2025; 9(1): 43-53
Kategorie: Varia
doi: https://doi.org/10.36833/lkl.2025.009

Souhrn

The human genome contains approximately 20,000 protein-coding genes, of which more than 15,000 (3/4) are expressed, among others, in the central nervous system. Variants that damage the function of these genes (called pathogenic variants) can lead to various forms of neurodevelopmental disorders (NDD), including speech and language disorders. These can occur alone or in various combinations. In this review article, we provide information on the possibilities, limits and importance of genetic testing in patients with NDD.

Klíčová slova:

neurodevelopmental disorders, speech and language disorders, genomic variants, genetic testing

Zdroje

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