Clinical manifestations of Angelman syndrome in children
Angelman syndrome is a genetic disorder characterized by mental retardation and severe speech delay, movement disorders and ataxia, dysmorphic features, and behavioral disorders. Angelman syndrome is caused by the loss of the 15q11.2-q13 region of chromosome 15 received from the mother, which leads...
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| Format: | Article |
| Language: | Russian |
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Ltd. “The National Academy of Pediatric Science and Innovation”
2022-01-01
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| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
| Subjects: | |
| Online Access: | https://www.ped-perinatology.ru/jour/article/view/1531 |
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| author | Z. K. Gorchkhanova E. A. Nikolaeva S. V. Bochenkov E. D. Belousova |
| author_facet | Z. K. Gorchkhanova E. A. Nikolaeva S. V. Bochenkov E. D. Belousova |
| author_sort | Z. K. Gorchkhanova |
| collection | DOAJ |
| description | Angelman syndrome is a genetic disorder characterized by mental retardation and severe speech delay, movement disorders and ataxia, dysmorphic features, and behavioral disorders. Angelman syndrome is caused by the loss of the 15q11.2-q13 region of chromosome 15 received from the mother, which leads to a violation of the expression of the UBE3A gene.Purpose. To analyze clinical manifestations in children with Angelman syndrome to identify early-onset and characteristic clinical signs.Characteristics of children and research methods. The study included 60 children. In all cases, Angelman syndrome was diagnosed on the basis of international clinical criteria and the results of genetic testing. The researchers used clinical, functional and molecular genetic research methods.Results. 80-100% of children demonstrated delayed mental and motor development, lack of speech, affective behavior, ataxia, hand stereotypes, apraxia of hand movements, strabismus, sialorrhea. 72% of children had epileptic seizures; all patients (regardless of the presence / absence of epilepsy) had a pattern characteristic of Angelman syndrome on the electroencephalogram. Differential diagnosis was based on the gene / chromosomal syndromes characterized by similar clinical signs.Conclusion. The combination of such most frequent, early clinical symptoms as difficulties in feeding, strabismus, impaired muscle tone, delayed motor and psycho-speech development, affective behavior with frequent laughter, and sleep disorders may indicate Angelman syndrome in a child. |
| first_indexed | 2024-04-10T01:42:56Z |
| format | Article |
| id | doaj.art-e8bbac0787ec4907a5c536da8b93f5fa |
| institution | Directory Open Access Journal |
| issn | 1027-4065 2500-2228 |
| language | Russian |
| last_indexed | 2024-04-10T01:42:56Z |
| publishDate | 2022-01-01 |
| publisher | Ltd. “The National Academy of Pediatric Science and Innovation” |
| record_format | Article |
| series | Rossijskij Vestnik Perinatologii i Pediatrii |
| spelling | doaj.art-e8bbac0787ec4907a5c536da8b93f5fa2023-03-13T09:12:51ZrusLtd. “The National Academy of Pediatric Science and Innovation”Rossijskij Vestnik Perinatologii i Pediatrii1027-40652500-22282022-01-01666637010.21508/1027-4065-2021-66-6-63-701134Clinical manifestations of Angelman syndrome in childrenZ. K. Gorchkhanova0E. A. Nikolaeva1S. V. Bochenkov2E. D. Belousova3ОСП «Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева» ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава РоссииОСП «Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева» ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава РоссииОСП «Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева» ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава РоссииОСП «Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева» ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава РоссииAngelman syndrome is a genetic disorder characterized by mental retardation and severe speech delay, movement disorders and ataxia, dysmorphic features, and behavioral disorders. Angelman syndrome is caused by the loss of the 15q11.2-q13 region of chromosome 15 received from the mother, which leads to a violation of the expression of the UBE3A gene.Purpose. To analyze clinical manifestations in children with Angelman syndrome to identify early-onset and characteristic clinical signs.Characteristics of children and research methods. The study included 60 children. In all cases, Angelman syndrome was diagnosed on the basis of international clinical criteria and the results of genetic testing. The researchers used clinical, functional and molecular genetic research methods.Results. 80-100% of children demonstrated delayed mental and motor development, lack of speech, affective behavior, ataxia, hand stereotypes, apraxia of hand movements, strabismus, sialorrhea. 72% of children had epileptic seizures; all patients (regardless of the presence / absence of epilepsy) had a pattern characteristic of Angelman syndrome on the electroencephalogram. Differential diagnosis was based on the gene / chromosomal syndromes characterized by similar clinical signs.Conclusion. The combination of such most frequent, early clinical symptoms as difficulties in feeding, strabismus, impaired muscle tone, delayed motor and psycho-speech development, affective behavior with frequent laughter, and sleep disorders may indicate Angelman syndrome in a child.https://www.ped-perinatology.ru/jour/article/view/1531детисиндром ангельманаклинические проявленияранняя диагностикаген ube3aделеция 15q11.2–q13 |
| spellingShingle | Z. K. Gorchkhanova E. A. Nikolaeva S. V. Bochenkov E. D. Belousova Clinical manifestations of Angelman syndrome in children Rossijskij Vestnik Perinatologii i Pediatrii дети синдром ангельмана клинические проявления ранняя диагностика ген ube3a делеция 15q11.2–q13 |
| title | Clinical manifestations of Angelman syndrome in children |
| title_full | Clinical manifestations of Angelman syndrome in children |
| title_fullStr | Clinical manifestations of Angelman syndrome in children |
| title_full_unstemmed | Clinical manifestations of Angelman syndrome in children |
| title_short | Clinical manifestations of Angelman syndrome in children |
| title_sort | clinical manifestations of angelman syndrome in children |
| topic | дети синдром ангельмана клинические проявления ранняя диагностика ген ube3a делеция 15q11.2–q13 |
| url | https://www.ped-perinatology.ru/jour/article/view/1531 |
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