Down's syndrome, research and practice : the journal of the Sarah Duffen Centre最新文献_第4页

Modelling Down syndrome. 模拟唐氏综合症。

Down's syndrome, research and practice : the journal of the Sarah Duffen Centre Pub Date : 2008-10-01 DOI: 10.3104/updates.2054

Frank Buckley

引用次数: 8

It is time to take memory training seriously. 是时候认真对待记忆训练了。

Down's syndrome, research and practice : the journal of the Sarah Duffen Centre Pub Date : 2008-10-01 DOI: 10.3104/updates.2092

Sue Buckley

引用次数: 20

Folate metabolism and the risk of Down syndrome. 叶酸代谢和唐氏综合症的风险。

Down's syndrome, research and practice : the journal of the Sarah Duffen Centre Pub Date : 2008-10-01 DOI: 10.3104/updates.2051

David Patterson

{"title":"Folate metabolism and the risk of Down syndrome.","authors":"David Patterson","doi":"10.3104/updates.2051","DOIUrl":"https://doi.org/10.3104/updates.2051","url":null,"abstract":"Folate is an important vitamin that contributes to cell division and growth and is therefore of particular importance during infancy and pregnancy. Folate deficiency has been associated with slowed growth, anaemia, weight loss, digestive disorders and some behavioural issues. Adequate folate intake around the time of conception and early pregnancy can reduce the risk of certain problems including neural tube defects. It has been suggested that certain versions (polymorphisms) of some genes can increase the risk of conceiving a baby with Down syndrome. If this is the case, then people with Down syndrome may be more likely to carry these forms of these genes and to experience associated problems in folate metabolism. Studies to date have found conflicting results, suggesting that these gene variants may be part of a more complex picture. In this issue, a further study reports no association between the presence of a common polymorphism of one of these genes and the risk of having a child with Down syndrome among mothers of Northern Indian origin. This article reviews these challenging findings and looks at where investigations can now go to resolve these issues.","PeriodicalId":80275,"journal":{"name":"Down's syndrome, research and practice : the journal of the Sarah Duffen Centre","volume":"12 2","pages":"93-7"},"PeriodicalIF":0.0,"publicationDate":"2008-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27853461","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 54

Wrongful deaths and rightful lives - screening for Down syndrome. 非正常死亡与正当生命——唐氏综合症筛查。

Down's syndrome, research and practice : the journal of the Sarah Duffen Centre Pub Date : 2008-10-01 DOI: 10.3104/editorials.2087

Frank Buckley, Sue Buckley

{"title":"Wrongful deaths and rightful lives - screening for Down syndrome.","authors":"Frank Buckley, Sue Buckley","doi":"10.3104/editorials.2087","DOIUrl":"https://doi.org/10.3104/editorials.2087","url":null,"abstract":"Prenatal screening for Down syndrome affects millions of pregnancies every year worldwide. The vast majority of screen-positive results are false, yet encourage invasive diagnostic procedures that pose additional risks to unborn babies. As a direct consequence many babies who do not have Down syndrome are lost. We estimate that current screening practice in England and Wales reduces annual live births of babies with Down syndrome by around 660 and leads to the losses of 400 babies without Down syndrome. Although prenatal diagnoses are becoming more frequent, more babies with Down syndrome are being born (up 25% over 15 years). Considerable attention has been given to studying the performance of competing screening techniques, yet relatively little attention has been given to the consequences for the psychological and physical wellbeing of all parents and their babies. Meanwhile, quality of life for people with Down syndrome continues to improve. In many countries, people with Down syndrome are living longer and achieving more than ever before. The authors urge policymakers to note that the live birth prevalence of Down syndrome continues to rise and that average life expectancy is now approaching 60 years. Accordingly, research and practice priorities should shift from prevention to improving care, education and support for a growing and ageing population. We suggest that policies permitting genetic screening for mental or physical abilities should be reviewed through wide public debate before new prenatal diagnosis and genome sequencing technologies become more readily available.","PeriodicalId":80275,"journal":{"name":"Down's syndrome, research and practice : the journal of the Sarah Duffen Centre","volume":"12 2","pages":"79-86"},"PeriodicalIF":0.0,"publicationDate":"2008-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27853567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 38

Prevalence of MTHFR C677T polymorphism in north Indian mothers having babies with Trisomy 21 Down syndrome. 北印度21三体唐氏综合征患儿母亲中MTHFR C677T多态性的患病率

Down's syndrome, research and practice : the journal of the Sarah Duffen Centre Pub Date : 2008-10-01 DOI: 10.3104/reports.2004

Utkarsh Kohli, Sadhna Arora, Madhulika Kabra, Lakshmy Ramakrishnan, Sheffali Gulati, Ravindra Mohan Pandey

{"title":"Prevalence of MTHFR C677T polymorphism in north Indian mothers having babies with Trisomy 21 Down syndrome.","authors":"Utkarsh Kohli, Sadhna Arora, Madhulika Kabra, Lakshmy Ramakrishnan, Sheffali Gulati, Ravindra Mohan Pandey","doi":"10.3104/reports.2004","DOIUrl":"https://doi.org/10.3104/reports.2004","url":null,"abstract":"Recent studies have evaluated possible links between polymorphisms in maternal folate metabolism genes and Down syndrome. Some of these studies show a significantly increased prevalence of the C677T polymorphism of the 5,10-methylene tetrahydrofolate reductase (NADPH) gene (MTHFR) among mothers who have had babies with Down syndrome. This study examined the prevalence of the MTHFR C677T polymorphism among 104 north Indian mothers of babies with Down syndrome and 109 control mothers. The prevalence of MTHFR C677T polymorphism observed among mothers of babies with Down syndrome was 28% compared to 35% in controls (C677T/T677T). There was no significant difference between the two groups (p = 0.294). Mean homocysteine level in mothers of children with Down syndrome was lower than the level in the controls. Our data suggests that the MTHFR C677T polymorphism is not associated with an increased risk of Down syndrome in the north Indian population. Homocysteine levels in our study were higher when compared to other studies. Methylcobolamin and folate deficiency or use of random samples for homocysteine determination could possibly account for this observation.","PeriodicalId":80275,"journal":{"name":"Down's syndrome, research and practice : the journal of the Sarah Duffen Centre","volume":"12 2","pages":"133-7"},"PeriodicalIF":0.0,"publicationDate":"2008-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"27853468","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 38

Preventing challenging behaviours in children with Down syndrome: Attention to early developing repertoires 预防唐氏综合症儿童的挑战性行为:关注早期发育的技能

Down's syndrome, research and practice : the journal of the Sarah Duffen Centre Pub Date : 2008-07-15 DOI: 10.3104/REVIEWS.2076

Kathleen M. Feeley, E. Jones

引用次数: 10

Number and arithmetic skills in children with Down syndrome 唐氏综合症儿童的数字和算术技能

Down's syndrome, research and practice : the journal of the Sarah Duffen Centre Pub Date : 2008-06-24 DOI: 10.3104/REVIEWS/2070

Sophie Brigstocke, Charles Hulme, Joanna Nye

引用次数: 31

The development of literacy skills in children with Down syndrome: Implications for intervention 唐氏综合症儿童读写能力的发展:干预的意义

Down's syndrome, research and practice : the journal of the Sarah Duffen Centre Pub Date : 2008-06-24 DOI: 10.3104/REVIEWS/2066

M. Snowling, Hannah M Nash, Lisa M Henderson

引用次数: 34

Development in practice - Speech and language activities for preschool children with Down syndrome 实践中的发展——学龄前唐氏综合症儿童的言语和语言活动

Down's syndrome, research and practice : the journal of the Sarah Duffen Centre Pub Date : 2008-01-01 DOI: 10.3104/resources.2089

Leela Baksi, Kate Freeman

引用次数: 0

Down but not out: a tool for inclusion 下而不出:一个包容的工具

Down's syndrome, research and practice : the journal of the Sarah Duffen Centre Pub Date : 2007-07-30 DOI: 10.3104/RESOURCES.2026

J. Rix

引用次数: 0