Down Syndrome cannot be treated but it can be managed – Expert

Hello Healthfacts.ng family! Did you know Paediatricians (doctors who treat children) are some of the nicest and coolest doctors ever? We spoke to one of them, Dr. Sokunbi who is a consultant paediatric cardiologist and she had a whole lot to share with us about Down Syndrome and Congenital Heart Diseases. Here are some excerpts for your reading pleasure!
Please kindly introduce yourself?
My name is Ogochukwu Jidechukwu Sokunbi. I am a Consultant Paediatrician and Paediatric Cardiologist. I have been a medical doctor since 2007. I obtained my fellowship in Paediatric Cardiology from Frontier Lifeline and Dr. K M Cherian Heart foundation in Chennai, India in 2014 and my fellowship in Paediatrics from the West African College of Physicians in 2015. I currently work as a Consultant Paediatrician and Paediatric Cardiologist in a tertiary hospital.

In layman’s terms, how would you define/explain Down Syndrome?
Down Syndrome is a disorder which children are born with. It consists of a number of abnormalities of the various systems in the child’s body. When you talk about a syndrome in medicine, it simply means when similar abnormalities are found in different individuals who are not related by blood so those individuals affected by a syndrome look alike, behave alike, have the same kind of disorders without necessarily being from the same family and Down Syndrome is one of them. So, for people who are familiar with children with Down Syndrome, they have a similar look, almost like they are siblings; whether Orientals, Caucasians or Africans, they all look the same. Down syndrome is mainly caused by an abnormality in the division of the genes. Usually when a man and a woman come together to have a baby, their genes usually mix. When the genes mix, they now further divide in various cells but sometimes when this division occurs, there’s a mix up. There are 46 genes in each normal cell, but due to some abnormalities, children with Down Syndrome have 47 genes and this extra gene is found on the 21st position. That’s why Down Syndrome is also called Trisomy 21; ‘tri’ for ‘three’ meaning where there are supposed to be two gene strands, there are three gene strands.
Is Down Syndrome a hereditary disease?
Down Syndrome is largely not inherited. Most of the time, it just happens. As I explained, it’s mainly as a result of problems with division and that division can occur at any time to anybody notwithstanding whether it’s in the person’s family lineage or not. However, there is a specific form of Down Syndrome in which there is a 100% likelihood of transmitting the disorder to offsprings but usually they are the exception to the rule and most of the time children born with Down Syndrome do not have any identifiable person in their lineage with that disorder.

Is Down Syndrome a Western or African disease? How common is this syndrome/condition in our environment/society?
Down Syndrome is not very common and it’s not a disease of any race. It has a worldwide incidence of 1 in 1000 babies, notwithstanding race. It is about the same in Nigeria.
What are the signs and symptoms to look out for in a child with Down syndrome?
In Down syndrome, signs are present right from when the baby is in the womb but if you’re talking about when the child is born, the general complaint is that the child is very “soft and weak”. That’s the general complaint that mothers give. They tell you that the child is not strong and generally feels very soft. This is because of reduced tone in the muscles; the muscles are over flexible and because of this over flexibility of their muscles, they are unable to attain their developmental milestones on time so you hear complains like they not able to hold their neck, can’t sit, can’t crawl at the appropriate time. Those are the first signs that the mother would complain of. They may also present with fast and difficult breathing and this is because of the heart problems that about 50% of them usually have. Sometimes, that is the reason parents come to the hospital for the first time. Some people tend to give wrong advice every now and then, so when a child is not holding the neck or not walking, people always proffer a lot of solutions which make parents not come to the hospital on time but at the point of fast or difficult breathing, caregivers show up and the disorder is diagnosed. However, for some children who have the opportunity of being born in good hospitals where there are trained medical personnel, it may be quickly identified based on their facial features and those facial features include a flat face, flat occiput (flat back of the head), upward slanting eyes like ‘Chinese’ eyes, thickened folds at the corners of their eyes, short and stubby fingers, loose skin folds at their neck region. Those are some of the signs that would make a medical professional suspect a child has Down Syndrome.
What is the average lifespan of a Down Syndrome patient?
It’s difficult to say because Down Syndrome in itself is not the problem; the fact that the child has Down Syndrome is not the problem. Some have reported a lifespan of about 50 to 60 years. It’s the attending problems that would determine the lifespan of the child. Like I said earlier on, there are affectations of several systems so if we want to go from head to toe, they may have:
• Learning disabilities – but usually that neurological defect would manifest in younger children as delayed developmental milestones
• Visual problems
• Hearing abnormalities
• Airway problems – some of them snore a lot and have disturbed sleep at night because they can have some obstruction to their airway such that they are not able to sleep comfortably at night
• Cardiac defects (heart lesions) – that is holes in the heart in about half of them
• Digestive system abnormalities – that is in their abdomen they can have twisting of the intestines and sometimes bands can form across their intestines that prevent food from moving freely sometimes resulting in vomiting or constipation
• Leukemia – blood cancer
• Skeletal problems – dislocations between the two big bones in the neck
All these problems can affect their lifespan. A child with Down syndrome who has just the mental and neurological issues would definitely tend to live longer than a child who has congenital heart defects or a leukemia.
Are there risk factors that predispose certain mothers to having children with Down Syndrome?
The major identifiable risk factor is late maternal age i.e. advanced maternal age at conception. The risk increases significantly at age 35 years and beyond. Due to higher fertility rates in women younger than 35 years, most of the children with Down syndrome tend to be born to mothers who are younger than 35 years.
How can a Mother know when she is pregnant that her baby has Down Syndrome?
The key thing that some mothers would experience, especially mothers who have been pregnant before, is that there would be reduced movements of the baby in the womb. I said earlier on that they usually have reduced tone in their muscles so because of that, the babies don’t kick as much as other babies. So, some mothers would complain that the baby is not as active as her previous babies but that only comes with experience. There can also be some abnormalities on ultrasound scan which can suggest the presence of a child with Down Syndrome in the womb. Some blood tests can also be done using the mother’s blood. It does not diagnose Down Syndrome but it raises a high suspicion for it.
How is the diagnosis of Down Syndrome made in a child?
Diagnosis is mainly made by karyotyping. Karyotyping is the process of looking at the genes by taking cells from the patient’s body. The cells in an individual or child’s body normally would have the same kind of genes. The cells from the skin or bone marrow can be used for karyotyping which can identify the presence of three gene strands called chromosomes on the 21st position. It’s basically by genetic testing that Down Syndrome can be diagnosed but clinical diagnosis is still the main reason that would prompt the need for karyotyping. Karyotyping is not a cheap test and it is not readily available in this part of the world, so usually it is the clinical symptoms and signs that would prompt a physician to do karyotyping.

Can Down Syndrome be treated/cured?
Down Syndrome cannot be cured, it can only be managed. It’s the abnormalities in the different systems of the body that can be managed. For example, patients who also have a hole in the heart would undergo heart surgery, those who have leukemia undergo chemotherapy, those who have obstruction in their intestines undergo abdominal surgery, etc.
When should a mother with a child with Down Syndrome him/her to the hospital?
Once it is diagnosed or suspected, the child should be taken to a health facility. This is important because some of the systemic problems they have need to be attended to quickly. For example, if the child has a hole in the heart, the heart surgery must be done as soon as is possible otherwise they could develop complications much earlier compared to other children. Also, visual and auditory problems (which may not be picked up early) should be assessed for and they need to start physiotherapy on time to improve muscle tone. These are some of the reasons why they should go to the hospital on time. An abdominal ultrasound scan and a scan of the heart should ideally be done as baseline investigations whether or not they present with symptoms because, the first presentation of these complications may be fatal. Another thing is that they tend to have a reduction in the function of their thyroid. The thyroid is the gland that helps in basic processes of the body. The substance secreted from this gland is necessary for body processes especially the development of the brain. If this substance is reduced (as usually occurs in children with Down Syndrome), it will affect the development of the brain; so a child who is already at risk of delayed development will have a further delay by the reduction of this substance. If this is detected on time, the replacement (artificial) substance can be started and it will help to improve the clinical outcome.

Thank you so very much Dr. Sokunbi for the taking time out of your busy schedule to educate us about Down Syndrome. And that’s all folks! I’m sure we have learnt a whole lot from this interview, I know I have. Let us know your thoughts by sharing your comments below and if you’d like to know more or have questions to ask, hit us up on our Q&A platform here.