Clinical manifestations of Angelman syndrome
The diagnosis of genetic disorders is always difficult. Early detection of Angelman syndrome is complicated by the similarity of its clinical manifestations with other diseases. The purpose of the study was to describe the clinical manifestations in children with Angelman syndrome in order to identi...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
Ltd. “The National Academy of Pediatric Science and Innovation”
2022-11-01
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| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
| Subjects: | |
| Online Access: | https://www.ped-perinatology.ru/jour/article/view/1728 |
| _version_ | 1797875098419462144 |
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| author | E. A. Kurmaeva S. Ya. Volgina N. A. Solovyeva G. A. Kulakova |
| author_facet | E. A. Kurmaeva S. Ya. Volgina N. A. Solovyeva G. A. Kulakova |
| author_sort | E. A. Kurmaeva |
| collection | DOAJ |
| description | The diagnosis of genetic disorders is always difficult. Early detection of Angelman syndrome is complicated by the similarity of its clinical manifestations with other diseases. The purpose of the study was to describe the clinical manifestations in children with Angelman syndrome in order to identify early and characteristic clinical signs. In the study of patients, it was revealed that the hereditary history was aggravated in one patient, the obstetric history — in all women. Clinical manifestations debuted in children at an early age, only in one patient from birth. In all children, changes were recorded on the electroencephalogram and magnetic resonance imaging of the brain. The patients were consulted by a geneticist. Awareness of the medical community contributes to the timely detection of signs of the disease and the establishment of a diagnosis. The sooner the diagnosis is established, the higher the chances of providing the patient with effective care. |
| first_indexed | 2024-04-10T01:41:18Z |
| format | Article |
| id | doaj.art-5202e79dab8e471baec11416cfa7164b |
| institution | Directory Open Access Journal |
| issn | 1027-4065 2500-2228 |
| language | Russian |
| last_indexed | 2024-04-10T01:41:18Z |
| publishDate | 2022-11-01 |
| publisher | Ltd. “The National Academy of Pediatric Science and Innovation” |
| record_format | Article |
| series | Rossijskij Vestnik Perinatologii i Pediatrii |
| spelling | doaj.art-5202e79dab8e471baec11416cfa7164b2023-03-13T09:12:53ZrusLtd. “The National Academy of Pediatric Science and Innovation”Rossijskij Vestnik Perinatologii i Pediatrii1027-40652500-22282022-11-0167521621910.21508/1027-4065-2022-67-5-216-2191267Clinical manifestations of Angelman syndromeE. A. Kurmaeva0S. Ya. Volgina1N. A. Solovyeva2G. A. Kulakova3ФГБОУ ВО «Казанский государственный медицинский университет» Минздрава РоссииФГБОУ ВО «Казанский государственный медицинский университет» Минздрава РоссииФГБОУ ВО «Казанский государственный медицинский университет» Минздрава РоссииФГБОУ ВО «Казанский государственный медицинский университет» Минздрава РоссииThe diagnosis of genetic disorders is always difficult. Early detection of Angelman syndrome is complicated by the similarity of its clinical manifestations with other diseases. The purpose of the study was to describe the clinical manifestations in children with Angelman syndrome in order to identify early and characteristic clinical signs. In the study of patients, it was revealed that the hereditary history was aggravated in one patient, the obstetric history — in all women. Clinical manifestations debuted in children at an early age, only in one patient from birth. In all children, changes were recorded on the electroencephalogram and magnetic resonance imaging of the brain. The patients were consulted by a geneticist. Awareness of the medical community contributes to the timely detection of signs of the disease and the establishment of a diagnosis. The sooner the diagnosis is established, the higher the chances of providing the patient with effective care.https://www.ped-perinatology.ru/jour/article/view/1728детисиндром ангельманахромосомаген ube3aзадержка психоречевого развития |
| spellingShingle | E. A. Kurmaeva S. Ya. Volgina N. A. Solovyeva G. A. Kulakova Clinical manifestations of Angelman syndrome Rossijskij Vestnik Perinatologii i Pediatrii дети синдром ангельмана хромосома ген ube3a задержка психоречевого развития |
| title | Clinical manifestations of Angelman syndrome |
| title_full | Clinical manifestations of Angelman syndrome |
| title_fullStr | Clinical manifestations of Angelman syndrome |
| title_full_unstemmed | Clinical manifestations of Angelman syndrome |
| title_short | Clinical manifestations of Angelman syndrome |
| title_sort | clinical manifestations of angelman syndrome |
| topic | дети синдром ангельмана хромосома ген ube3a задержка психоречевого развития |
| url | https://www.ped-perinatology.ru/jour/article/view/1728 |
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