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学科主题: 临床医学
题名:
Genotype and early development in Rett syndrome: The value of international data
作者: 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
关键词: Rett syndrome ; MECP2 ; phenotype ; early development ; international ; Internet ; database
刊名: BRAIN & DEVELOPMENT
发表日期: 2005-11-01
DOI: 10.1016/j.braindev.2005.03.023
卷: suppl.1, 页:S59-S68
收录类别: ISTP ; SCI
文章类型: Proceedings Paper
WOS标题词: Science & Technology
类目[WOS]: Clinical Neurology
研究领域[WOS]: Neurosciences & Neurology
关键词[WOS]: MUTATION TYPE ; MECP2 MUTATIONS ; PHENOTYPE ; DISORDER ; LOCATION ; INACTIVATION ; ASSOCIATION ; CRITERIA ; RECALL
英文摘要:

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.

语种: 英语
WOS记录号: WOS:000234557500010
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/64358
Appears in Collections:北京大学第一临床医学院_期刊论文

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作者单位: 1.Curtin Univ Technol, Perth, WA 6001, Australia
2.Peking Univ, Hosp 1, Beijing 100871, Peoples R China
3.Univ Western Australia, Ctr Child Hlth Res, Telethon Inst Child Hlth Res, Perth, WA 6009, Australia
4.Univ Western Australia, Sch Populat Hlth, Perth, WA 6009, Australia
5.Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia
6.Childrens Hosp Westmead, Western Sydney Genet Program, Westmead, NSW, Australia

Recommended Citation:
Leonard, H,Moore, H,Carey, M,et al. Genotype and early development in Rett syndrome: The value of international data[J]. BRAIN & DEVELOPMENT,2005,suppl.1:S59-S68.
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