What you need to know about Down Syndrome

Last month, Uganda joined the rest of the world to mark World Down syndrome day, which is celebrated every March 21. It is a global awareness day that has been recognised by the UN since 2012.

While there are no accurate figures on the prevalence of malformation, according to experts, health rights activists and the government have stepped up awareness campaigns about the disease.

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Dr Twalib Aliku, a pediatrician at Uganda Heart Institute (UHI), said in Uganda, between 1,500 and 2,000 children are born with Down Syndrome every year and 50 percent of these have heart defects, which is the leading cause of death.

“In our outpatient clinic, one out of every 10 children have Down Syndrome because there are extra three chromosomes. There is an increase of particular genes, which control the formation of the heart. So, it’s the Down Syndrome that predisposes the heart to have heart disease,” he said.
Dr Aliku added that every day, UHI receives about 30 to 40 children with heart diseases, of which 10 percent will have Down Syndrome.
“We see three new patients with Down Syndrome for diagnosis and if they are found to have heart disease, the good news is that up to 60 percent of children with Down Syndrome who have heart disease, have simple to modulate heart disease that we are able to treat at UHI,” he said.

Dr Aliku added: “Of those, the majority will be treated by charity. We are really a poor country. Heart disease is very costly. The majority of people who will have many births will be from the poorer sections of society, so if they have a child with heart disease, they can’t pay for it.”
He noted that it costs $1,000 to treat a simple heart defect at UHI and many organisations can pay for that.
Dr Aliku revealed that they are able to treat about 200 children per year at UHI but 40 percent of children have complex heart conditions and are referred abroad since they can’t be managed at the institute and need lifelong care.

What is Down Syndrome?
Scientists define Down Syndrome as a genetic chromosome disorder that causes developmental and intellectual delays.
According to Dr Daniel Tumwine, a paediatrician at the Children’s Clinic in Naalya, Down Syndrome is a condition that arises from a person having an extra chromosome in their cells.
Such a situation usually manifests during fertilisation as a result of abnormal cell division where a child gets the third chromosome.

“Each human cell has 46 chromosomes, 23 from the father and 23 from the mother. These chromosomes pair up and are numbered from one to 22. They will also have two sex chromosomes, X or Y depending on their sex. However, a person with Down Syndrome will have three chromosomes at chromosome 21 instead of two,” Dr Tumwine explained. 
Chromosomes are small packages of genes in the body that allow one’s DNA to be accurately copied during cell division.
Down Syndrome varies in severity among individuals, causing a distinct facial appearance such as slanting eyes, flattened face, small head, low set ears, intellectual disability, delayed speech and delays in development.

He noted that globally, it is estimated that there are probably around 30,000 to 55000 persons living with Down Syndrome. Unfortunately, many of them don’t have a good quality of life.
Dr Tumwine said children with Down Syndrome present a lot of complications that may either be physical or mental in terms of delay in their development as they might suffer delayed speech and with intellectual challenges and low IQ.
Dr Tumwine, however, noted that all these complications can be mitigated if they are diagnosed early.

Signs
Children born with Down Syndrome tend to have slanted eyes and a flat neck, according to Dr Tumwine.
“The bridge of their nose tends to be quite flat and they tend to have protruding tongue because their jaws tends to be small,” he said.
“If it was possible, we would have looked at their chromosomes but usually if we are to do that, we have to take samples abroad, and so the diagnosis is delayed. Once it is delayed, the intervention tends to become delayed and not only that, it comes with huge expenses,” Dr Tumwine said.

The others are poor muscle tone or loose joints, short figures, anxiety and depression, language disorder and development delay, among others. Children tend to present more with heart conditions, thyroid disease and coeliac diseases.
Dr Tumwine said signs differ from individuals and that a person with Down Syndrome might live up to about 30 years or 65 to 70 years in developed countries if they are diagnosed early.
He stated that the majority of the children with Down Syndrome do not live past one year because of delayed diagnosis since most people associate it with witchcraft.

“Ideally, diagnosis can be carried out before the child is born. What happens is that they take some of the fluids inside the womb, look at it and count the chromosomes that are there. Alternatively, you can do ultrasound at around 11 to 13 weeks and usually we look at signs and symptoms of Down Syndrome pretty early,” he said.
He, however, noted that although there are trained health workers to carry out the test, the country has no equipment to carry out the test and count the number of chromosomes.

“While we have trained healthcare workers, who are able to carry out such tests, the equipment is lacking. It is called Karyotyping, where you look at chromosomes underneath a special microscope and they usually cost $3,000,” Dr Tumwine said.
He added that because there is no equipment in Uganda and doctors usually use clinical signs for diagnosis of Down Syndrome. The doctors look at and can tell that the child might be having Down Syndrome.
He noted that Down Syndrome is incurable but what is done is to reduce the complications because it is a chromosomal condition but parents can always seek early intervention while the child is born.

Challenges
Dr Tumwine noted that in Uganda, there is limited care to support children with Down Syndrome as the Ministry of Health clinical guidelines don’t stipulate treatment.
Additionally, inability to properly diagnose a child with Down Syndrome due to lack of equipment to count the chromosomes and only look at features is not proper. There is also late diagnosis, lack of sensitisation, and stigma to both parents and children, among others.
Ms Daphine Nabukenya, a mother of four and resident of Makindye Division in Kampala, said she realised her third born son had Down Syndrome at the age of three.

She noted that his tongue was always out and releasing a lot of silver and he kept nodding his head. Upon visiting the hospital, the doctor broke the news of her son having Down Syndrome.
“I was told it is not curable and the doctor advised me not to discriminate against him because he will sometimes behave differently from other children,” Ms Nabukenya said.
She, however, noted that she has faced a lot of challenges with some people nicknaming her son (kasiru), something that stigmatises her.
Ms Nabukenya also told this publication that some people in her community do not allow their children to associate with her son saying he will infect them with the disease.

CARE
Dr Daniel Tumwine, a paediatrician at the Children’s Clinic in Naalya, explained that persons with Down Syndrome tend to be expensive since their conditions tend to be recurrent. 
He said it is important to monitor them.
He further said they also require a lot of support as they have a lot of medical issues because they have intellectual challenges. 
Dr Tumwine noted that the males with Down Syndrome are always sterile while females can produce but almost 50 percent of the children they give birth to get Down Syndrome too, though he said it’s not genetic.