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Morozova E.A.

Kazan State Medical Academy — Russian Medical Academy of Continuous Professional Education

Belousova M.V.

Kazan State Medical Academy — Russian Medical Academy of Continuous Professional Education

Morozov D.V.

Kazan State Medical Academy — Russian Medical Academy of Continuous Professional Education

Gabelko D.I.

Kazan State Medical Academy — Russian Medical Academy of Continuous Professional Education

Bogolyubova V.V.

Kazan State Medical Academy — Russian Medical Academy of Continuous Professional Education

Genetic aspects of speech disorders in children

Authors:

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

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2023;123(9‑2): 87‑91

DOI: 10.17116/jnevro202312309287

Views: 2004

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To cite this article:

Morozova EA, Belousova MV, Morozov DV, Gabelko DI, Bogolyubova VV. Genetic aspects of speech disorders in children. S.S. Korsakov Journal of Neurology and Psychiatry. 2023;123(9‑2):87‑91. (In Russ.)
https://doi.org/10.17116/jnevro202312309287

 
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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.

Keywords:

speech development disorder
specific language impairment
developmental dysphasia
genetic linkage
autism spectrum disorders
KMT5B mutation

Authors:

Morozova E.A.

Kazan State Medical Academy — Russian Medical Academy of Continuous Professional Education

Belousova M.V.

Kazan State Medical Academy — Russian Medical Academy of Continuous Professional Education

Morozov D.V.

Kazan State Medical Academy — Russian Medical Academy of Continuous Professional Education

Gabelko D.I.

Kazan State Medical Academy — Russian Medical Academy of Continuous Professional Education

Bogolyubova V.V.

Kazan State Medical Academy — Russian Medical Academy of Continuous Professional Education

Received:

12.09.2023

Accepted:

12.09.2023

List of references:

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  6. Nagy O, Kárteszi J, Elmont B, Ujfalusi A. Case Report: Expressive Speech Disorder in a Family as a Hallmark of 7q31 Deletion Involving the FOXP2 Gene. Frontiers in Pediatrics. 2021;9:664548. https://doi.org/10.3389/fped.2021.664548
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  8. Worthey EA, Raca G, Laffin JJ, et al. Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech. Journal of Neurodevelopmental Disorders. 2013;5(1):29.  https://doi.org/10.1186/1866-1955-5-29
  9. Benítez-Burraco A, Fernández-Urquiza M, Jiménez-Romero MS. Language Impairment with a Partial Duplication of DOCK8. Molecular Syndromology. 2020;11(5-6):243-263.  https://doi.org/10.1159/000511972
  10. Benchek P, Igo RP Jr, Voss-Hoynes H, et al. Association between genes regulating neural pathways for quantitative traits of speech and language disorders. NPJ Genomic Medicine. 2021;6(1):64.  https://doi.org/10.1038/s41525-021-00225-5
  11. Zavadenko NN. Dyslexia as the most prevalent form of specific learning disabilities. L.O. Badalyan Neurological Journal. 2021;2(3):146-158. (In Russ.). https://doi.org/10.46563/2686-8997-2021-2-3-146-158
  12. Wilcke A, Ligges C, Burkhardt J, et al. Imaging genetics of FOXP2 in dyslexia. European Journal of Human Genetics. 2012;20(2):224-229.  https://doi.org/10.1038/ejhg.2011.160
  13. Lin PI, Chien YL, Wu YY, et al. The WNT2 gene polymorphism associated with speech delay inherent to autism. Research in Developmental Disabilities. 2012;33(5):1533-1540. https://doi.org/10.1016/j.ridd.2012.03.004
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  19. Faundes V, Newman WG, Bernardini L, et al. Histone lysine methylases and demethylases in the landscape of human developmental disorders. American Journal of Human Genetics. 2018;102(1):175-187.  https://doi.org/10.1016/j.ajhg.2017.11.013
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  21. Morozova EA, Morozov DV, Belousova MV, et al. Uncommon variants of speech disorder in children: congenital bilateral perisylvian syndrome. Zhurnal Nevrologii i Psikhiatrii im. S.S. Korsakova. 2022;122(9-2):21-26. (In Russ.). https://doi.org/10.17116/jnevro202212209221

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