Down syndrome is still a health threat


Alvin Mukisa was born a normal baby like any other, but soon his mother, Achiro, noticed that her son was lazy and had wide eyes. The mother decided to take him to the paediatrician who carried out various tests and said that he had Down syndrome.

Down Syndrome was first described as a disorder in 1866 and it was named after John Langdon, who later discovered the cause of the defect in 1959.

The World Health Organisation defines Down syndrome as a condition caused by extra-genetic material in 21 chromosomes. This occurs due to a process called non-disjunction in which genetic material fails to separate during an important formation of genes, resulting in an extra chromosome called trisomy 21.

According to the comic resource centre of WHO, the estimated incidence of Down syndrome is between 1 in 1,000 to 1 in 1,100 live births worldwide. In 2011, the WHO declared 21 March as World Down Syndrome Day in recognition of the chromosomes that cause the condition.

Until 2017, Uganda used not to celebrate this day. However, on 21 March this year, it was celebrated for the first time, and the country joined the world in commemorations held under the theme: “My voice, my community”.

Detecting Down Syndrome

During pregnancy, it can be quite difficult to detect whether the child has the defect, especially in medical facilities where the equipment is lacking. However, after birth, a child with Down syndrome has a flat face, small hands and feet, slanting eyes, and unusually soft skin.

Dr Daniel Tumwine of Children’s Clinic, during an interview with NBS TV, a Ugandan television network, said that mothers who tend to have children after 35 have a higher risk of having children with Down Syndrome.

Dr Peter Adele, a paediatrician at Kingsley Children’s Clinic Mukono, says that there is no specific cause of the defect. However, there are associated factors that can lead to the defect.

“For example, elderly women tend to have genetic defects that can cause Down syndrome. But it is a chromosome disability that cannot be corrected because it is a genetic malfunction,” he said.

Achiro, Mukisa’s mother, says that her son has been slow in terms of growth. For instance, he took a while to walk steadily without help.

“And he has not been very active at any    stage     of development,” she said.

According to the Centre for Disease Control, children with Down syndrome have difficulty with physical coordination. On the other hand, they as well have congenital heart disease and intestinal abnormalities.

Dealing with the defect

Unlike some developed countries that have the equipment to detect the defect during antenatal care, Tumwine said that Uganda lacks the equipment.

“Testing has to be done in South Africa, which is very costly and goes for US$500 per test. We need training, such that the costs spent on testing are brought down countrywide,” he adds.

Adele says that parents with such children have to be patient and mind the kind of schools they choose for these children.

“Depending on the level of mental retardation, some children have to be taken to special needs schools. Other children can catch up if the teachers are well-trained and patient enough to teach these children,” he explains.

At Bishop’s West Primary School in Mukono, a school for children with disabilities, there are two children with Down’s syndrome.

The school has seven special needs teachers and one handles those with the syndrome. Since the school was recently privatised, many of the children left due to an increment in the fees.

Alele advises   parents should ensure that the teachers are aware that their children need special attention such that they are not surprised if they perform poorly.

In case they fail to coordinate with the school teachers, then it is better to take them to special needs schools. This will enable the child to study in a more comfortable and conducive environment.

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