Down Syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. This extra genetic material causes Down Syndrome’s developmental changes and physical features. It’s estimated that 100 babies are born with Down Syndrome each year in Namibia and over 1 000 are living with Down Syndrome, these figures might be slightly high because not all cases are accounted for.
Children born with Down Syndrome often present with a flattened face, small head, short neck, protruding tongue, upward slanting eyelids, unusually shaped or small ears, and poor muscle tone. These children also present with broad short hands, with a single palmar crease. They have relatively short fingers, small hands, and feet. They are also excessively flexible with short heights and Brushfield spots.
The risk factors for giving birth to a child with Down Syndrome include advanced maternal age and a woman’s risk of conceiving a child with Down Syndrome increases after 35 years of age. Another factor is being a carrier of the genetic translocation for Down Syndrome be it a woman or a man, having had one child with Down Syndrome also increases the risk of conceiving another child with Down Syndrome.
The best modality will be to offer
options for screening tests and diagnostic tests for Down Syndrome to all pregnant women regardless of their age. The screening test involves blood for pregnancy-associated plasma protein-A, a human chorionic gonadotropin, and nuchal translucency ultrasound. The diagnostic test includes chorionic villus sampling (CVS) and Amniocentesis.
Treatment is a multi-disciplinary approach, early intervention for infants and children with Down Syndrome can make a major difference in improving their quality of life. Each child with Down Syndrome is unique, treatment will
have to be individualized and tailor-made to meet the specific needs and different stages of life may require different
services.
A wide variety of complications can arise in people with Down Syndrome such as heart defects, gastrointestinal defects, immune disorders, sleep apnea, obesity, spinal problems, leukemia, dementia, ear infections, seizures, hearing, and vision problems just to mention a few.
In conclusion, children with Down Syndrome usually are diagnosed before or at birth. If you are, however, having questions regarding your pregnancy or your child’s growth and development, take your child to the health facility or talk to the health professional for further assistance.
*Dr Makemba Shayela Nelson holds a MBChB from the University of Kwazulu-Natal and is a director at Nesha Medical Practice.