Intractable Rare Dis Res. 2024;13(2):121-125. (DOI: 10.5582/irdr.2023.01103)

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

Utari A, Cayami FK, Rahardjo TA, Sabatini SE, Ulvyana V, Winarni TI

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 comorbidities, 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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