مؤتمر
Genotype and early development in Rett syndrome: The value of international data
| العنوان: | Genotype and early development in Rett syndrome: The value of international data |
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| المؤلفون: | Leonard, H, Moore, H, Carey, M, Fyfe, S, Hall, S, Robertson, L, Wu, XR, Bao, XH, Pan, H, Christodoulou, J, Williamson, S, de Klerk, N |
| المساهمون: | Leonard, H (reprint author), Univ Western Australia, Ctr Child Hlth Res, Telethon Inst Child Hlth Res, Perth, WA 6009, Australia., Univ Western Australia, Ctr Child Hlth Res, Telethon Inst Child Hlth Res, Perth, WA 6009, Australia., Curtin Univ Technol, Perth, WA 6001, Australia., Univ Western Australia, Sch Populat Hlth, Perth, WA 6009, Australia., Peking Univ, Hosp 1, Beijing 100871, Peoples R China., Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia., Childrens Hosp Westmead, Western Sydney Genet Program, Westmead, NSW, Australia. |
| المصدر: | SCI |
| سنة النشر: | 2005 |
| المجموعة: | Peking University Institutional Repository (PKU IR) / 北京大学机构知识库 |
| مصطلحات موضوعية: | Rett syndrome, MECP2, phenotype, early development, international, Internet, database, MUTATION TYPE, MECP2 MUTATIONS, DISORDER, LOCATION, INACTIVATION, ASSOCIATION, CRITERIA, RECALL |
| الوصف: | Background: Rett syndrome is a neurodevelopmental disorder mostly affecting females and caused by mutations in the MECP2 gene. Originally the syndrome was characterised as having a normal prenatal and perinatal period with later regression. Previous work has speculated that the girl with Rett syndrome may not be normal at birth. Aims: to examine whether early development between birth and ten months varies by genotype in Rett syndrome. Methods: cases were sourced from two databases, the Australian Rett Syndrome Database (est. 1993) and the newly formed InterRett-IRSA Rett Phenotype Database. Data available on 320 cases included information provided by parents on perinatal problems, early developmental behaviour and mobility. Problem scores, mobility scores and a total composite score for each mutation were generated and compared. Results: overall, 58% of respondents noted unusual behaviour during the first six months and 70.6% from the period between 6 and 10 months of life. Statistically significant differences were detected between some of the common mutations. Infants with R294X (P=0.05) and R133C (P=0.03) were less likely than those with R255X to have problems in the perinatal period. The most severe profile overall for early development was associated with mutations R255X and R270X. Conclusion: This is the largest study to date examining the effects of individual mutations in Rett syndrome. With the ongoing case ascertainment and expansion of InterRett, sample size will increase rapidly and provide improved statistical power for future analyses. Results from this study will contribute to understanding the mechanism of early development in Rett syndrome and determining if and at which time(s) early intervention might be feasible. (c) 2005 Elsevier B.V. All fights reserved. ; Clinical Neurology ; SCI(E) ; CPCI-S(ISTP) ; 17 |
| نوع الوثيقة: | conference object |
| اللغة: | English |
| تدمد: | 0387-7604 |
| العلاقة: | BRAIN & DEVELOPMENT.2005/11/1,27(S59-S68).; 991223; http://hdl.handle.net/20.500.11897/253730Test; WOS:000234557500010 |
| DOI: | 10.1016/j.braindev.2005.03.023 |
| الإتاحة: | https://doi.org/20.500.11897/253730Test https://doi.org/10.1016/j.braindev.2005.03.023Test https://hdl.handle.net/20.500.11897/253730Test |
| رقم الانضمام: | edsbas.CE1FC62E |
| قاعدة البيانات: | BASE |
| تدمد: | 03877604 |
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| DOI: | 10.1016/j.braindev.2005.03.023 |