在印度尼西亚中爪哇省发现唐氏综合症及其问题的关键问题:需要医疗保健和更好的管理。

IF 1.1 Q2 MEDICINE, GENERAL & INTERNAL
Agustini Utari, Ferdy Kurniawan Cayami, Tithasiri Audi Rahardjo, Selvia Eva Sabatini, Vynda Ulvyana, Tri Indah Winarni
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引用次数: 0

摘要

我们进行了一项横断面研究,以了解印度尼西亚中爪哇省唐氏综合症患儿的医疗保健问题。研究共纳入了 162 名唐氏综合征患儿(81 名男孩,81 名女孩)。约50%的患儿存在先天性心脏缺陷和甲状腺功能减退症,27.7%的患儿存在视力问题,17.3%的患儿存在听力问题。近一半的病例在婴儿出生一个月后才被确诊。50%以上的病例被确诊为高龄产妇,只有不到 10%的病例是根据核型分析确诊的。这项研究描述了一些基本问题,如严重的并发症、诊断延迟、高龄产妇和缺乏(可获得的)基因检测设施;因此,需要更好的医疗保健和管理。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Critical issue in the identification of Down syndrome and its problems in Central Java, Indonesia: The fact of needing health care and better management.

We conducted a cross-sectional study to describe the health care problems of children with Down syndrome in Central Java, Indonesia. A total of 162 children (81 boys, 81 girls) with Down syndrome were included. Congenital heart defects and hypothyroidism were found in about 50%, followed by vision and hearing problems in 27.7% and 17.3%, respectively. Almost half of cases were diagnosed after the first month of age. Advanced maternal age was identified in more than 50%, and less than 10% was based on karyotype analysis. This study describes the essential issues such as critical co-morbidities, delayed diagnosis, advanced maternal age, and lack of (accessibility to) genetic testing facilities; thus, better health care and management is needed.

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Intractable & rare diseases research
Intractable & rare diseases research MEDICINE, GENERAL & INTERNAL-
CiteScore
2.10
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