Dr Oluwakemi Ashubu, a paediatric endocrinologist at the University College Hospital, Ibadan, in this interview with SADE OGUNTOLA, says stigma is the most common challenge faced by persons living with Down syndrome, declaring that women should be intentional when planning to get pregnant.
WHAT is Down syndrome, and how common is it?
Down syndrome is a genetic disorder. It occurs when a person has an extra copy of chromosome 21 or part of it instead of the usual two. When the child is born, the first thing the mother may notice is that the body is very soft; they say when they are carrying the baby, it’s as if the baby is not holding well. The baby’s eyes may have an upward-slanting look so that people say they look like Chinese. Also, they are said to have small head, hands and feet, and slow development when compared with other children such as holding up their neck, sitting, talking and walking.
Well, how does it happen? During the time of pregnancy, there is a change of genetic material between the sperm and the egg to form a baby. At this time, there could be an extra chrome in the 21st position in the cell where ideally, there are supposed to be two. All these chromosomes carry genetic information to form either structural or functional features in a baby. This change is not due to anything anyone did before or during pregnancy.
What are the common signs of Down syndrome in a newborn? Do they all have the same look?
All of them don’t have the same look because there are different types of Down syndrome, depending on the alterations on chromosome 21. The level of alterations or abnormality in chromosome 21 will determine the individual’s look. They have a flat face, tongue that sticks out of the mouth, almond shaped eyes that slant upwards, small hands and feet, small head, poor muscle tone, short stature. Other problems are congenital heart disease, hearing loss and visual problems.
It is said that the incidence of children with Down syndrome increases with the age of the mother. Does it therefore mean that only older women give birth to children with this condition?
In our clinic, we have close to 200 individuals with Down syndrome in our registry. Not all these children are born to women who are of an older age. I’ve even seen young mothers have such children and many of them ask why, because they have read that it is older women that have children with Down syndrome.
As women age, there is a risk that during cell division, a pair of chromosomes fails to separate properly (nondisjunction), resulting in an egg cell with an extra copy of a chromosome, making them have 3 in a cell instead of two. It is also suggested that in younger mothers, it could occur because they have a higher birth rate. Environmental conditions could also increase the risk of having children with congenital abnormalities.
What exactly in the environment predisposes women to having such babies?
A: There is no environmental factor that directly causes Down syndrome but certain environmental factors are known to increase the risk of giving birth to children with congenital abnormalities. They include: exposure to certain chemicals, toxins or pollutants; ionizing radiation from medical procedures e.g. X-rays or environmental sources; certain occupations involving exposure to certain chemicals or solvents; substance use, e.g. smoking and alcohol consumption and extremes of temperature.
Also, it is said that when a woman has one child that is living with Down syndrome, the probability of her having another one with Down syndrome is very high. It is also said that the older the age of the father, the higher the chance that the baby will have Down syndrome. But the woman’s diet and lifestyle have not been linked with Down syndrome so far. In all, a woman that intending to get pregnant should eat well and stay fit as much as possible.
So, you must be intentional before getting pregnant to prevent any birth defects?
Yes, the woman should be intentional about taking prenatal multivitamins, eating right, taking rest and avoiding things that are toxic to the body to reduce the risk of having a baby with a birth defect.
What’s the population of persons ’living with Down syndrome?
A study in Nigeria in the 80s reported one case of Down syndrome in 862 births. There are more specific figures from countries like South Africa and Kenya. We really don’t have current figures for Down syndrome in Nigeria.
However, in the paediatric endocrinology clinic that runs every Friday at UCH, Ibadan, sometimes we see one to three new cases every week, and so at least 6 children of varying age groups in a month. Those that have the obvious signs of Down syndrome come earlier because the mother cannot cope, especially if they have comorbid diseases like congenital heart disease. They will come early. But those that don’t have any congenital heart disease or distinctive features may show up at the toddler period when they find out the child is not talking, walking or achieving other developmental milestones.
Are there hurdles to overcome before children with Down syndrome in Nigeria can actually enjoy the equity and future they deserve?
A lot of hurdles; most importantly is stigma. Many parents still talk about that as a major problem. They say that parents stop their children from playing with their children living with Down Syndrome. So, such children are kept indoors or locked up because they are seen to be imbeciles. But really, they are happy, good natured, and fantastic children. Some parents also say that taking care of them can be tasking and tiring.
Do children with Down syndrome have adequate access to care and appropriate medicines in Nigeria?
For now, parents pay out of pocket. The cost of their care varies, depending on the existing comorbidities that can range from eye, ear, speech and heart problems to movement problems that require physiotherapy. They need care from different specialists as needed from time to time. Health insurance, if available, can actually cover some of these treatments and tests to reduce the cost of their care.
The reviews are essential to ensure optimal growth and development so that they achieve expected milestones as much as possible to live well. They attend 3 monthly clinic visits and we are reachable to them by phone.
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Is there anything they cannot do? Is there anything they cannot achieve in life?
Indeed, they have degree of intellectual disability, they may not, for example, become pilots or go into professions that require a high level of intellectual capacity. Last year, there was a news report of a person living with Down syndrome abroad who graduated as a lawyer. They have been known to be involved in and grow skills in areas like fashion designing, modelling, gardening, sports and even advocates for other people living with Down syndrome. There’s nothing that they cannot do. They can go to school; they are able to talk, interact and develop social skills. One of the individuals I know acted in a movie by Wale-Adenuga Productions. He was the lead actor in the movie to create awareness on Down syndrome.
Are there screening tests or diagnostic tests for Down syndrome in pregnancy?
Yes. There are tests. There is the chorionic villus sampling or amniocentesis, where a little bit of the amniotic fluid is tested. Some other non-invasive prenatal testing using the mother’s blood to determine whether her unborn child may have Down syndrome or not; usually done around week 10 to 14. Similarly, imaging can be done; an ultrasound scan can check the unborn baby for features that might be suggestive of abnormalities. For instance, congenital anomaly screening is offered at UCH for all pregnant women. In a way, it will also help the woman and the family to prepare for the baby appropriately.
Are conditions easily misinterpreted as Down syndrome?
Yes, a very common one is cerebral palsy. This occurs in children following brain damage because they did not cry early when they were born or due to jaundice. Also, many babies born with a smaller than expected head circumference are erroneously diagnosed as having Down syndrome. Such babies, when brought to the hospital after review, can be referred to appropriate clinics for expert care.
Is it easy for it to be interpreted as autism?
Well, sometimes children with Down syndrome also exhibit features of autism. In fact, some have autism in conjunction with Down syndrome. This, they start to exhibit as they grow older. Quite a number of them do see the neurology team for some other neurological issues. These neurological issues include seizure disorder, autism attention deficit hyperactivity disorder and antisocial disorders.
Are there common cultural biases regarding children with Down syndrome in Nigeria? Are there things mothers shouldn’t do in ensuring they have adequate care?
They should manage them like regular children. They should offer them the same opportunity as every other child. That a child has Down syndrome does not mean that he cannot do things on their own or be independent. They are called imbeciles and are said to be cursed children but these are not true. They should not be indulged unnecessarily so they do not become manipulative. Parents are to provide positive enabling environment for growth and development.
Is there misinformation and a wrong understanding of what Down syndrome is in the community?
One of the bad ones is that if you take a child with Down syndrome to the stream, it will turn to a snake? Another mother said that since she has a child with Down syndrome, people have stopped buying things from her. A woman said that her husband left her because her child is living with Down syndrome. A woman said her child with Down syndrome encourages her all the time; another mother said since the child was born, her business has boomed. So, it’s both the good and the bad.
They deserve equal opportunity like every other child, inclusivity is the message being spread about them now. They are to have access to health care, education and social support so they can achieve their potential and participate fully in the society.