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DOI 10.5582/irdr.2023.01103

Медицинская библиотека · Intractable & rare diseases research · 2024

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 Agustini, Cayami Ferdy Kurniawan, Rahardjo Tithasiri Audi, Sabatini Selvia Eva, Ulvyana Vynda, Winarni Tri Indah

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Аннотация

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.

Для цитирования: Utari Agustini, Cayami Ferdy Kurniawan, Rahardjo Tithasiri Audi, Sabatini Selvia Eva, Ulvyana Vynda, Winarni Tri Indah. Critical issue in the identification of Down syndrome and its problems in Central Java, Indonesia: The fact of needing health care and better management.. Intractable & rare diseases research. 2024. DOI: 10.5582/irdr.2023.01103.
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