An algorithm for the diagnosis of X-linked intellectual disability in children
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous group of hereditary diseases caused by mutations on the X chromosome, which lead to impaired intellectual development. The paper determines for the first time the proportion of X-linked diseases (6.54%) in the patt...
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| Format: | Article |
| Language: | Russian |
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Ltd. “The National Academy of Pediatric Science and Innovation”
2016-11-01
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| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
| Subjects: | |
| Online Access: | https://www.ped-perinatology.ru/jour/article/view/377 |
| _version_ | 1797875292314796032 |
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| author | V. Yu. Voinova S. G. Vorsanova Yu. B. Yurov I. Yu. Yurov |
| author_facet | V. Yu. Voinova S. G. Vorsanova Yu. B. Yurov I. Yu. Yurov |
| author_sort | V. Yu. Voinova |
| collection | DOAJ |
| description | X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous group of hereditary diseases caused by mutations on the X chromosome, which lead to impaired intellectual development. The paper determines for the first time the proportion of X-linked diseases (6.54%) in the pattern of intellectual disability in children. A system has been developed to quantify the clinical severity of fragile X mental retardation syndrome and Rett syndrome. A system has been scientifically justified to predict the clinical severity, which is based on an analysis of the impact of genetic and epigenetic factors (mutation type and location, X chromosome inactivation). The authors have determined the contribution of nonrandom X inactivation to the clinical polymorphism of various forms of XLID and established its role as an important diagnostic marker for pathology. It is shown that the study of X chromosome inactivation can identify asymptomatic female carriers of X-linked mutations to provide medical genetic counseling to families. An algorithm has been elaborated to diagnose XLID among the undifferentiated forms of mental developmental abnormalities in children. |
| first_indexed | 2024-04-10T01:44:12Z |
| format | Article |
| id | doaj.art-1fc21d50af9e469e8a835da9ef688ce4 |
| institution | Directory Open Access Journal |
| issn | 1027-4065 2500-2228 |
| language | Russian |
| last_indexed | 2024-04-10T01:44:12Z |
| publishDate | 2016-11-01 |
| publisher | Ltd. “The National Academy of Pediatric Science and Innovation” |
| record_format | Article |
| series | Rossijskij Vestnik Perinatologii i Pediatrii |
| spelling | doaj.art-1fc21d50af9e469e8a835da9ef688ce42023-03-13T09:12:42ZrusLtd. “The National Academy of Pediatric Science and Innovation”Rossijskij Vestnik Perinatologii i Pediatrii1027-40652500-22282016-11-01615344110.21508/1027-4065-2016-61-5-34-41356An algorithm for the diagnosis of X-linked intellectual disability in childrenV. Yu. Voinova0S. G. Vorsanova1Yu. B. Yurov2I. Yu. Yurov3ОСП «Научно-исследовательский клинический институт педиатрии им. Ю.Е. Вельтищева» ГБОУ ВПО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова Минздрава России», Москва; ГБОУ ВПО «Московский государственный психолого- педагогический университет», МоскваОСП «Научно-исследовательский клинический институт педиатрии им. Ю.Е. Вельтищева» ГБОУ ВПО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова Минздрава России», МоскваФГБНУ «Научный центр психического здоровья» РАН, МоскваФГБНУ «Научный центр психического здоровья» РАН, Москва; ГБОУ «Российская медицинская академия постдипломного образования», МоскваX-linked intellectual disability (XLID) is a clinically and genetically heterogeneous group of hereditary diseases caused by mutations on the X chromosome, which lead to impaired intellectual development. The paper determines for the first time the proportion of X-linked diseases (6.54%) in the pattern of intellectual disability in children. A system has been developed to quantify the clinical severity of fragile X mental retardation syndrome and Rett syndrome. A system has been scientifically justified to predict the clinical severity, which is based on an analysis of the impact of genetic and epigenetic factors (mutation type and location, X chromosome inactivation). The authors have determined the contribution of nonrandom X inactivation to the clinical polymorphism of various forms of XLID and established its role as an important diagnostic marker for pathology. It is shown that the study of X chromosome inactivation can identify asymptomatic female carriers of X-linked mutations to provide medical genetic counseling to families. An algorithm has been elaborated to diagnose XLID among the undifferentiated forms of mental developmental abnormalities in children.https://www.ped-perinatology.ru/jour/article/view/377детих-сцепленная умственная отсталостьсиндром умственной отсталости, сцепленной с ломкой хромосомой хсиндром реттаинактивация хромосомы х |
| spellingShingle | V. Yu. Voinova S. G. Vorsanova Yu. B. Yurov I. Yu. Yurov An algorithm for the diagnosis of X-linked intellectual disability in children Rossijskij Vestnik Perinatologii i Pediatrii дети х-сцепленная умственная отсталость синдром умственной отсталости, сцепленной с ломкой хромосомой х синдром ретта инактивация хромосомы х |
| title | An algorithm for the diagnosis of X-linked intellectual disability in children |
| title_full | An algorithm for the diagnosis of X-linked intellectual disability in children |
| title_fullStr | An algorithm for the diagnosis of X-linked intellectual disability in children |
| title_full_unstemmed | An algorithm for the diagnosis of X-linked intellectual disability in children |
| title_short | An algorithm for the diagnosis of X-linked intellectual disability in children |
| title_sort | algorithm for the diagnosis of x linked intellectual disability in children |
| topic | дети х-сцепленная умственная отсталость синдром умственной отсталости, сцепленной с ломкой хромосомой х синдром ретта инактивация хромосомы х |
| url | https://www.ped-perinatology.ru/jour/article/view/377 |
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