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印度部落人群中的唐氏综合征:一项实地观察。

Down syndrome in tribal population in India: A field observation.

作者信息

Lakhan Ram, Kishore Madhavaram Thomas

机构信息

Department of Epidemiology, Jackson State University, Jackson, MS, USA.

Department of Clinical Psychology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.

出版信息

J Neurosci Rural Pract. 2016 Jan-Mar;7(1):40-3. doi: 10.4103/0976-3147.172167.

DOI:10.4103/0976-3147.172167
PMID:26933342
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4750337/
Abstract

CONTEXT

Down syndrome (DS) is a prevalent genetic disorder in intellectual disability (ID) in India. Its prevalence in tribal population is not known.

AIMS

The study aimed to understand the profile of DS in a tribal population with an objective of finding the prevalence of DS among those with ID.

SETTINGS AND DESIGN

This is a community-based study with a survey design.

SUBJECTS AND METHODS

A door-to-door survey was conducted by trained, community-based rehabilitation workers under close supervision of multidisciplinary team to identify people with ID. A standardized screening instrument National Institute for Mentally Handicapped-Developmental Screening Schedule was used in the survey. All identified ID cases were evaluated by therapists in IDs for diagnosis of ID on developmental screening test and Vineland social maturity scale. Clinical examination was performed by medical doctors for DS on people identified as ID. Only two parents brought their children for further lab investigations at Ashagram Trust, Barwani.

STATISTICAL ANALYSIS USED

Descriptive statistics was applied manually to treat the data.

RESULTS

The frequency of DS population in tribal population closely matches with DS prevalence in the USA. Mothers of DS children in the tribal community are relatively younger.

CONCLUSION

Prevalence of DS in tribal population of India may greatly vary with that of the US data, but it is markedly associated with younger maternal age. Further studies are needed for prevalence and identification of potential correlates of this condition.

摘要

背景

在印度,唐氏综合征(DS)是智力残疾(ID)中一种常见的遗传疾病。其在部落人口中的患病率尚不清楚。

目的

本研究旨在了解部落人口中唐氏综合征的概况,目的是找出智力残疾者中唐氏综合征的患病率。

设置与设计

这是一项基于社区的调查研究。

对象与方法

由经过培训的社区康复工作者在多学科团队的密切监督下进行挨家挨户的调查,以识别智力残疾者。调查中使用了标准化筛查工具《国立精神发育迟滞研究所发育筛查量表》。所有识别出的智力残疾病例均由智力残疾治疗师根据发育筛查测试和文兰社会成熟量表进行智力残疾诊断评估。由医生对被确定为智力残疾的人进行唐氏综合征的临床检查。只有两位家长带孩子到巴尔瓦尼的阿沙格拉姆信托机构进行进一步的实验室检查。

所用统计分析方法

采用描述性统计方法人工处理数据。

结果

部落人口中唐氏综合征患者的频率与美国的唐氏综合征患病率密切匹配。部落社区中唐氏综合征患儿的母亲相对年轻。

结论

印度部落人口中唐氏综合征的患病率可能与美国的数据有很大差异,但明显与母亲年龄较小有关。需要进一步研究这种情况的患病率及其潜在相关因素。

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本文引用的文献

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J Appl Res Intellect Disabil. 2016 May;29(3):211-9. doi: 10.1111/jar.12171. Epub 2015 Mar 31.
2
Current estimate of Down Syndrome population prevalence in the United States.目前在美国唐氏综合征人群的流行率估计。
J Pediatr. 2013 Oct;163(4):1163-8. doi: 10.1016/j.jpeds.2013.06.013. Epub 2013 Jul 23.
3
Possible risk factors for Down syndrome and sex chromosomal aneuploidy in Mysore, South India.印度南部迈索尔地区唐氏综合征和性染色体非整倍体的潜在风险因素。
Indian J Hum Genet. 2007 Sep;13(3):102-8. doi: 10.4103/0971-6866.38984.
4
Health supervision for children with Down syndrome.对唐氏综合征患儿的健康监督。
Pediatrics. 2011 Aug;128(2):393-406. doi: 10.1542/peds.2011-1605. Epub 2011 Jul 25.
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Secondhand smoke and adverse fetal outcomes in nonsmoking pregnant women: a meta-analysis.二手烟与不吸烟孕妇不良妊娠结局:一项荟萃分析。
Pediatrics. 2011 Apr;127(4):734-41. doi: 10.1542/peds.2010-3041. Epub 2011 Mar 7.
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Updated National Birth Prevalence estimates for selected birth defects in the United States, 2004-2006.2004 - 2006年美国部分出生缺陷的最新全国出生患病率估计
Birth Defects Res A Clin Mol Teratol. 2010 Dec;88(12):1008-16. doi: 10.1002/bdra.20735. Epub 2010 Sep 28.
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