Utari Agustini, Cayami Ferdy Kurniawan, Rahardjo Tithasiri Audi, Sabatini Selvia Eva, Ulvyana Vynda, Winarni Tri Indah
Center for Biomedical Research (CEBIOR), Faculty of Medicine, Universitas Diponegoro, Semarang, Indonesia of Medicine, Universitas Diponegoro, Semarang, Indonesia.
Department of Paediatrics, Faculty of Medicine, Universitas Diponegoro, Semarang, Indonesia.
Intractable Rare Dis Res. 2024 May 31;13(2):121-125. doi: 10.5582/irdr.2023.01103.
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.
我们开展了一项横断面研究,以描述印度尼西亚中爪哇省唐氏综合征患儿的医疗保健问题。总共纳入了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病和甲状腺功能减退,其次分别有27.7%和17.3%的患儿存在视力和听力问题。几乎一半的病例在出生后第一个月后才被诊断出来。超过50%的患儿母亲年龄偏大,基于核型分析的病例不到10%。本研究描述了诸如严重合并症、诊断延迟、产妇年龄偏大以及缺乏(获取)基因检测设施等关键问题;因此,需要更好的医疗保健和管理。