Speech disorders in genetically determined forms of epilepsy in children. Clinical observations
- Authors: Guzeva V.I.1, Eremkina Y.A.1, Guzeva O.V.1, Guzeva V.V.1, Malekov D.A.1, Vedernikova V.A.1
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Affiliations:
- Saint Petersburg State Pediatric Medical University
- Issue: Vol 42, No 4 (2023)
- Pages: 437-444
- Section: Case report
- URL: https://journal-vniispk.ru/RMMArep/article/view/264755
- DOI: https://doi.org/10.17816/rmmar585236
- ID: 264755
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Abstract
BACKGROUND: Speech disorders in children are one of the pressing problems of child neurology. In recent years, much attention has been paid to studying the genetic aspects of the development of speech disorders in children with epilepsy. Speech function in childhood is vulnerable, and its violation has a number of significant consequences. Specialists from different disciplines focus on specific aspects of speech disorders. Speech therapists consider speech disorders based on linguistic criteria, psychologists evaluate the psychological characteristics of children with speech disorders. The rapid development of genetic research, the availability of many molecular genetic tests, especially such a method as next generation sequencing, allowed us to pay more attention to the study of genetic aspects of the development of speech disorders in children with epilepsy.
AIM: to present options for speech disorders in genetically determined forms of epilepsy in children based on clinical examples.
RESULTS: The article analyzes 3 clinical cases of epilepsy in children, combined with speech pathology (2 boys and 1 girl aged 2 to 5 years). The data of anamnesis of life and disease, neurological examination with assessment of speech function, results of genetic research, electroencephalographic examination and magnetic resonance imaging are presented.
CONCLUSION: All patients are united by a combination of speech disorders, epileptic seizures, and the presence of genetic pathologies that are responsible for speech function. These clinical observations demonstrate the need for a comprehensive, multidisciplinary approach both at the stage of early diagnosis of speech impairment in children with epileptic seizures and at the stage of further treatment of such patients.
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##article.viewOnOriginalSite##About the authors
Valentina I. Guzeva
Saint Petersburg State Pediatric Medical University
Email: viktoryka@mail.ru
ORCID iD: 0009-0002-3493-1041
SPIN-code: 1097-5673
Scopus Author ID: 6603635189
M.D., D.Sc. (Medicine), Professor, the Head of the Neurology, Neurosurgery and Medical Genetics Department
Russian Federation, Saint PetersburgYulia A. Eremkina
Saint Petersburg State Pediatric Medical University
Author for correspondence.
Email: uliahromcova@gmail.com
ORCID iD: 0000-0002-7712-1754
SPIN-code: 7287-9458
Scopus Author ID: 57222508483
Assistant at the Neurology, Neurosurgery and Medical Genetics Department
Russian Federation, Saint PetersburgOksana V. Guzeva
Saint Petersburg State Pediatric Medical University
Email: oksanadoc@bk.ru
ORCID iD: 0000-0002-3639-4860
Scopus Author ID: 21742770700
M.D., D.Sc. (Medicine), Professor, the Neurology, Neurosurgery and Medical Genetics Department
Russian Federation, Saint PetersburgViktoriya V. Guzeva
Saint Petersburg State Pediatric Medical University
Email: viktoryka@mail.ru
ORCID iD: 0009-0000-7834-3300
SPIN-code: 5542-8975
Scopus Author ID: 58445207000
M.D., D.Sc. (Medicine), Professor, the Neurology, Neurosurgery and Medical Genetics Department
Russian Federation, Saint PetersburgDamir A. Malekov
Saint Petersburg State Pediatric Medical University
Email: d.a.malekov@gmail.com
ORCID iD: 0000-0002-1358-4725
SPIN-code: 8804-4630
Russian Federation, Saint Petersburg
Viktoriya A. Vedernikova
Saint Petersburg State Pediatric Medical University
Email: vikochka.spb@mail.ru
ORCID iD: 0009-0007-2326-5326
SPIN-code: 7537-9970
Russian Federation, Saint Petersburg
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