Get to Know Down Syndrome, Explained by a Medicine Lecturer of UMM

Author : Humas | Tuesday, November 07, 2023 04:08 WIB
dr. Annisa' Hasanah Sp.A, M.Si. (Photo: Special).

Down syndrome is a disease that is related to a chromosomal abnormality. This chromosome is called chromosome number 21. Down syndrome is also known as the face disease of the world because the facial appearance looks similar. Some of the behaviours of Down syndrome are seen to be more hyperactive. In addition, we can see some physical characteristics of Down syndrome children, such as having smaller and lower ears, flatter head shape, long distance between eyes, wide eyes and a snub nose.

"Small mouths, thicker and shorter tongues, wider and shorter necks, short hands and fingers, and the distance between the thumbs and other toes are other physical characteristics. Moreover, Down syndrome children only have one line on the palm of their hand. This is called simian crease," said a lecturer at the Faculty of Medicine, University of Muhammadiyah Malang (UMM), dr. Annisa' Hasanah Sp.A, M.Si.

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Annisa, her nickname, explained that people with Down syndrome usually have abnormalities or disorders such as hearing loss, congenital heart disease, respiratory problems, and digestive disorders. A screening is required for the child to find out these various things. 

"This disease has no cure as it relates to chromosomes or genetics. However, the symptoms can be treated more quickly if we know it early," she said.

Down syndrome children may experience delays in speech and development. However, they are still competent. Annisa says they can also learn to play music and study like other children. "If treated and given the right therapy, their abilities can be optimized," she said.

According to Annisa, there is no specific therapy for children with Down syndrome. However, the treatment of children with Down syndrome must be holistic or involve a lot of people. Starting from parents, the extended family, doctors, and psychologists. Furthermore, the most important thing is the Down syndrome community. Parents can join and share in this community so they don't feel alone.

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"We also need a medical rehabilitation doctor as the child needs physiotherapy because of speech delays. Thus, there are many scientific fields involved in the treatment of Down syndrome children," she said.

There are three types of Down syndrome: regular trisomy, mosaicism and translocation. Regular trisomy is the most common, with 94% of the total person with Down syndrome. However, the symptoms and treatment are similar.

Annisa encourages all mothers to do a screening, especially during pre-pregnancy and pregnancy. Once it is detected early, the paediatrician can immediately conduct the appropriate treatment. "The purpose of screening is to avoid any delay in the treatment. For example, if there is a leaky heart or hearing loss, it can be treated immediately," Annisa concluded. (put/*dev/wil)

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