Speech disorders in genetically determined forms of epilepsy in children. Clinical observations
- 作者: 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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隶属关系:
- Saint Petersburg State Pediatric Medical University
- 期: 卷 42, 编号 4 (2023)
- 页面: 437-444
- 栏目: Case report
- URL: https://ogarev-online.ru/RMMArep/article/view/264755
- DOI: https://doi.org/10.17816/rmmar585236
- ID: 264755
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全文:
详细
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.
作者简介
Valentina Guzeva
Saint Petersburg State Pediatric Medical University
Email: viktoryka@mail.ru
ORCID iD: 0009-0002-3493-1041
SPIN 代码: 1097-5673
Scopus 作者 ID: 6603635189
M.D., D.Sc. (Medicine), Professor, the Head of the Neurology, Neurosurgery and Medical Genetics Department
俄罗斯联邦, Saint PetersburgYulia Eremkina
Saint Petersburg State Pediatric Medical University
编辑信件的主要联系方式.
Email: uliahromcova@gmail.com
ORCID iD: 0000-0002-7712-1754
SPIN 代码: 7287-9458
Scopus 作者 ID: 57222508483
Assistant at the Neurology, Neurosurgery and Medical Genetics Department
俄罗斯联邦, Saint PetersburgOksana Guzeva
Saint Petersburg State Pediatric Medical University
Email: oksanadoc@bk.ru
ORCID iD: 0000-0002-3639-4860
Scopus 作者 ID: 21742770700
M.D., D.Sc. (Medicine), Professor, the Neurology, Neurosurgery and Medical Genetics Department
俄罗斯联邦, Saint PetersburgViktoriya Guzeva
Saint Petersburg State Pediatric Medical University
Email: viktoryka@mail.ru
ORCID iD: 0009-0000-7834-3300
SPIN 代码: 5542-8975
Scopus 作者 ID: 58445207000
M.D., D.Sc. (Medicine), Professor, the Neurology, Neurosurgery and Medical Genetics Department
俄罗斯联邦, Saint PetersburgDamir Malekov
Saint Petersburg State Pediatric Medical University
Email: d.a.malekov@gmail.com
ORCID iD: 0000-0002-1358-4725
SPIN 代码: 8804-4630
俄罗斯联邦, Saint Petersburg
Viktoriya Vedernikova
Saint Petersburg State Pediatric Medical University
Email: vikochka.spb@mail.ru
ORCID iD: 0009-0007-2326-5326
SPIN 代码: 7537-9970
俄罗斯联邦, Saint Petersburg
参考
- Guzeva VI, ed. Federal guidelines for pediatric neurology. Saint Petersburg: Valetudo Publ.; 2023. (In Russ.)
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- Allison K, Stoeckel R, Olsen E, et al. Motor speech phenotypes in children with Epilepsy: preliminary findings. American Journal of Speech-Language Pathology. 2023;32(4S):1912–1922. doi: 10.1044/2022_AJSLP-22-00176
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- Guzeva VI, Okhrim IV, Eremkina YuA. Cognitive impairment in a child with atypical rolandic epilepsy. Clinical observation. Rossiyskiy vestnik perinatologii i pediatrii. 2022;67(4):273–274. (In Russ.)
- Rudolf G, de Bellescize J, de Saint Martin A, et al. Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes. Europen Journal of Paediatric Neurology. 2020;27:104–110 doi: 10.1016/j.ejpn.2020.05.003
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