Critical issue in the identification of Down syndrome and its problems in Central Java, Indonesia: The fact of needing health care and better management.

Autor:	Utari A; 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., Cayami FK; Center for Biomedical Research (CEBIOR), Faculty of Medicine, Universitas Diponegoro, Semarang, Indonesia of Medicine, Universitas Diponegoro, Semarang, Indonesia.; Department of Anatomy, Faculty of Medicine, Universitas Diponegoro, Semarang, Indonesia., Rahardjo TA; Faculty of Medicine, Universitas Diponegoro, Semarang, Indonesia., Sabatini SE; Faculty of Medicine, Universitas Diponegoro, Semarang, Indonesia., Ulvyana V; Faculty of Medicine, Universitas Diponegoro, Semarang, Indonesia., Winarni TI; Center for Biomedical Research (CEBIOR), Faculty of Medicine, Universitas Diponegoro, Semarang, Indonesia of Medicine, Universitas Diponegoro, Semarang, Indonesia.; Department of Anatomy, Faculty of Medicine, Universitas Diponegoro, Semarang, Indonesia.
Jazyk:	angličtina
Zdroj:	Intractable & rare diseases research [Intractable Rare Dis Res] 2024 May 31; Vol. 13 (2), pp. 121-125.
DOI:	10.5582/irdr.2023.01103
Abstrakt:	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. Competing Interests: Universitas Diponegoro, Semarang, Indonesia, WCRU-No:118-02/UN7.6.6/PP/2021.The authors have no conflicts of interest to disclose. (2024, International Research and Cooperation Association for Bio & Socio - Sciences Advancement.)
Databáze:	MEDLINE
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