Poor care, lack of awareness, leading cause of death of children with Down Syndrome
Members of Parliament have attributed limited research to the increase of Down Syndrome in the country.
This, MPs said have left many children and families vulnerable with no clear data showing the trend in the country.
The remarks were made ahead of the World Down Syndrome Day 2023 which is due to take place on March, 21.
The event which is organised by Uganda Down Syndrome Consortium Uganda aims at creating awareness among the people about the disease which has taken a toll on many families in the country.
The chairperson Uganda Parliamentary Forum for Children (UPFC) MP Margaret Makokha said that it is very sad that Uganda as a country doesn’t have clear data regarding Down Syndrome in the country.
“We should now advocate for the researchers, academicians to take interest in doing research about this disease and also for every other hospital when they identify these children with Down Syndrome, we should have one register so that we can be able to just click a button and know how many children with this disease we have so far in the country,” she said.
She called for more machines that can help to detect the disease at an early stage, adding that most people with down syndrome need more support to help them achieve the kind of life that most people take for granted.
Down syndrome is a genetic disorder in which a child is born with an extra copy or extra genetic material of their 21st chromosome. Chromosomes are small “packs” in each cell that contain our genes. Genes determine how our bodies form, what we look like, and how the body works.
A normal human cell has 23 pairs of chromosomes, one to 22, and a pair of sex chromosomes (xx or xy). This makes a total of 46 chromosomes. Down syndrome babies have 47 chromosomes. The extra chromosome changes how the child looks causing physical, intellectual and developmental challenges
Dr Daniel Tumwine, a pediatrician at Children Clinic Naalya, explained that children with Down Syndrome don’t always survive citing a number of reasons including poor care, poor diagnosis, lack of awareness, limited support to the families among others.
At his clinic, Tumwine has been treating children with this disease for free and he believes that many people are unaware of the disease.
Health experts noted that individuals with Down syndrome commonly have a short stature, muscle hypotonia (poor muscle tone), atlantoaxial instability (the connections between muscles (ligaments) are “lax” or floppy), reduced neuronal density, cerebellar hypoplasia (cerebellum is smaller than usual or not completely developed), intellectual disability, and congenital heart defects.
Other signs include a flattened face, small head, short neck, protruding tongue, upward slanting eye lids (palpebral fissures), unusually shaped or small ears, broad, short hands with a single crease in the palm, relatively short fingers and small hands and feet, excessive flexibility, and tiny white spots on the coloured part (iris) of the eye called Brushfield’s spots.
Tumwine said children with Down Syndrome are susceptible to heart disease, adding that it is very costly to take care of them hence calling for support from the public to support these vulnerable families.
Down syndrome occurs worldwide and affects all races; one in every 800 newborns have it. In Uganda, for the 1,200,000 annual births, it is estimated that 1,500 babies are born with down syndrome annually.
The Patron Down Syndrome Foundations Uganda, Dr Thelma Awori highlighted the need why Ugandans should embrace the cause to ensure that the families with children suffering from Down Syndrome are supported. She said many children have been neglected.
“If you want to help people who have this problem, early intervention is very crucial. There are six organisations that have come together to help children with Down Syndrome and in my family,I have people not with this disease but with intellectual challenges and that is why I commit myself to this work,” she said.
