perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2016-61-5-179-182perinatology-403Research ArticleXIII РОССИЙСКАЯ КОНФЕРЕНЦИЯ «ПЕДИАТРИЯ И ДЕТСКАЯ ХИРУРГИЯ В ПРИВОЛЖСКОМ ФЕДЕРАЛЬНОМ ОКРУГЕ»13TH RUSSIAN CONFERENCE ON PEDIATRICS AND PEDIATRIC SURGERY IN THE VOLGA FEDERAL DISTRICTГБОУ ВПО «Казанский государственный медицинский университет им. С.В. Курашова» Минздрава РФ, КазаньClinical diagnostic criteria for typical and atypical variants of Rett syndrome in childrenВолгинаС. Я.VolginaS. Ya.

кафедрf госпитальной педиатрии 

д.м.н., проф. 

ГБОУ ВПО «Казанский государственный медицинский университет им. С.В. Курашова» Минздрава РФ, КазаньРоссияS.V. Kurashov Kazan State Medical University, Ministry of Health of the Russian Federation, KazanRussian Federation201620112016615179182Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20162016Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/403

Синдром Ретта является одним из наиболее социально значимых нервно-психических наследственных заболеваний у детей. Заболевание преимущественно встречается у девочек, его частота составляет 1:10000–15000. Мутации в Х-сцепленном гене МЕСР2 рассматриваются как основная причина синдрома. Диагностика типичного и атипичного вариантов синдрома основана на клинических критериях, выявлении мутаций генов МЕСР2, CDKL5 и FOXG1. В 2010 г. Консорциум экспертов по синдрому Ретта пересмотрел диагностические критерии синдрома и пришел к новому консенсусу. При наличии регрессии нервно-психического развития для диагностики типичного варианта синдрома Ретта достаточно четырех основных критериев, для диагностики атипичного варианта — двух из четырех основных критериев и пяти из одиннадцати дополнительных. 

Rett Syndrome is one of the most socially significant neuropsychiatric hereditary diseases in children. This syndrome is mainly found in girls: its frequency is 1:10000–15000. Currently mutations in X-linked gene MESR2 considered as the main cause of the syndrome. Diagnosis of typical and atypical variants of the syndrome is based on the use of clinical criteria, determining gene mutations МЕСР2, CDKL5 and FOXG1. In 2010, the Expert Consortium for Rett syndrome have revised the existing diagnostic criteria for the syndrome and come to a new consensus. If there is a regression of mental development for the diagnosis of Rett syndrome exemplary embodiment only four basic criteria for the diagnosis of atypical variant — two of the four main criteria, and five of the eleven additional criteria. 

детисиндром Реттаклинические диагностические критериитипичный и атипичный вариантымутации генов МЕСР2CDKL5FOXG1childrenRett syndromethe clinical diagnostic criteria for typical and atypical variantgene mutations MESR2CDKL5FOXG1ReferencesRett A. On a unusual brain atrophy syndrome in hyperammonemia in childhood. Wien Med Wochenschr 1966; 116: 723–726.Rett A. On a unusual brain atrophy syndrome in hyperammonemia in childhood. Wien Med Wochenschr 1966; 116: 723–726.Hagberg B., Aicardi J., Dias K., Ramos O. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett’s syndrome: report of 35 cases. Ann Neurol 1983; 14: 471–479.Hagberg B., Aicardi J., Dias K., Ramos O. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett’s syndrome: report of 35 cases. Ann Neurol 1983; 14: 471–479.Amir R.E., Van den Veyver I.B., Wan M. et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999; 23: 2: 185–188.Amir R.E., Van den Veyver I.B., Wan M. et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999; 23: 2: 185–188.Neul J.L., Fang P., Barrish J. et al. Specific mutations in meth￾yl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology 2008; 70: 1313–1321.Neul J.L., Fang P., Barrish J. et al. Specific mutations in meth￾yl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology 2008; 70: 1313–1321.Юров И.Ю., Ворсанова С.Г., Воинова-Улас В.Ю. и др. Комплексный клинико-генетический подход к диагностике синдрома Ретта у детей. Вопросы современной педиатрии 2007; 6: 4: 38–42. (Yurov I.Yu., Vorsanova S.G., Voinova-Ulas V.Yu. et al. Integrated clinical and genetic approach for diagnosis of Rett syndrome in children. Voprosy sovremennoj pediatrii 2007; 6: 4: 38–42. (in Russ))Юров И.Ю., Ворсанова С.Г., Воинова-Улас В.Ю. и др. Комплексный клинико-генетический подход к диагностике синдрома Ретта у детей. Вопросы современной педиатрии 2007; 6: 4: 38–42. (Yurov I.Yu., Vorsanova S.G., Voinova-Ulas V.Yu. et al. Integrated clinical and genetic approach for diagnosis of Rett syndrome in children. Voprosy sovremennoj pediatrii 2007; 6: 4: 38–42. (in Russ))Chen L., Chen K., Lavery L.A. et al. MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome. Proc Natl Acad Sci USA 2015; 112: 17: 5509–5514.Chen L., Chen K., Lavery L.A. et al. MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome. Proc Natl Acad Sci USA 2015; 112: 17: 5509–5514.Wan M., Lee S.S., Zhang X. et al. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet 1999; 65: 1520–1529.Wan M., Lee S.S., Zhang X. et al. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet 1999; 65: 1520–1529.Reichow B., Pappanikou A.J., George-Puskar A. et al. System￾atic Review of Rett Syndrome in Males. J Autism Develop￾mental Dis 2015; 45: 10: 3377–3383.Reichow B., Pappanikou A.J., George-Puskar A. et al. System￾atic Review of Rett Syndrome in Males. J Autism Develop￾mental Dis 2015; 45: 10: 3377–3383.Kankirawatana P., Leonard H., Ellaway C. et al. Early progressive encephalopathy in boys and MECP2 mutations. Neurol￾ogy 2006; 67: 164–166.Kankirawatana P., Leonard H., Ellaway C. et al. Early progressive encephalopathy in boys and MECP2 mutations. Neurol￾ogy 2006; 67: 164–166.Watson P., Black G., Ramsden S. et al. Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. J Med Genet 2001; 38: 224–228.Watson P., Black G., Ramsden S. et al. Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. J Med Genet 2001; 38: 224–228.Bahi-Buisson N., Nectoux J., Rosas-Vargas H. et al. Key clinical features to identify girls with CDKL5 mutations. Brain 2008; 131: 10: 2647–2661.Bahi-Buisson N., Nectoux J., Rosas-Vargas H. et al. Key clinical features to identify girls with CDKL5 mutations. Brain 2008; 131: 10: 2647–2661.Ariani F., Hayek G., Rondinella D. et al. FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet 2008; 83: 89–93.Ariani F., Hayek G., Rondinella D. et al. FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet 2008; 83: 89–93.Neul J.L., Kaufmann W.E., Glaze D.G. et al. Rett Syndrome: Revised Diagnostic Criteria and Nomenclature.Ann Neurol 2010; 68: 6: 944–950.Neul J.L., Kaufmann W.E., Glaze D.G. et al. Rett Syndrome: Revised Diagnostic Criteria and Nomenclature.Ann Neurol 2010; 68: 6: 944–950.Hagberg G, Stenbom Y, Witt Engerstrom I. Head growth in Rett syndrome. ActaPaediatr 2000; 89: 198–202.Hagberg G, Stenbom Y, Witt Engerstrom I. Head growth in Rett syndrome. ActaPaediatr 2000; 89: 198–202.Christen H.J., Hanefeld F. Male Rett variant. Neuropediatrics 1995; 26: 81–82.Christen H.J., Hanefeld F. Male Rett variant. Neuropediatrics 1995; 26: 81–82.Leonard H., Weaving L., Eastaugh P., et al. Trisomy 21 and Rett syndrome: a double burden. J Paediatr Child Health 2004; 40: 406–409.Leonard H., Weaving L., Eastaugh P., et al. Trisomy 21 and Rett syndrome: a double burden. J Paediatr Child Health 2004; 40: 406–409.Percy A.K., Neul J.L., Glaze D.G. et al. Rett syndrome diagnostic criteria: Lessons from the Natural History Study. Ann Neurol 2010; 68: 6: 951–955.Percy A.K., Neul J.L., Glaze D.G. et al. Rett syndrome diagnostic criteria: Lessons from the Natural History Study. Ann Neurol 2010; 68: 6: 951–955.Zappella M. The Rett girls with preserved speech. Brain Dev 1992; 14: 98–101.Zappella M. The Rett girls with preserved speech. Brain Dev 1992; 14: 98–101.Hanefeld F. The clinical pattern of the Rett syndrome. Brain Dev 1985; 7: 320–325.Hanefeld F. The clinical pattern of the Rett syndrome. Brain Dev 1985; 7: 320–325.Rolando S. Rett syndrome: report of eight cases. Brain Dev 1985; 7: 290–296.Rolando S. Rett syndrome: report of eight cases. Brain Dev 1985; 7: 290–296.

The authors declare that there are no conflicts of interest present.