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Doris Obinna
The Centre for Disease (CDC), described Down syndrome as a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms during pregnancy and how the baby’s body functions as it grows in the womb and after birth.
CDC explained: “Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is trisomy.
Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.
“Even though people with Down syndrome might act and look similar, each person has different abilities. People with Down syndrome usually have an IQ (a measure of intelligence) in the mildly-to-moderately low range and are slower to speak than other children.”
Experts said Down syndrome has a lot of sociocultural colouration. Many local communities in Nigeria believed that all observable defects or early deaths that may occur in children with Down syndrome are traceable to parental misdeeds or links between the child and the evil world.
Studies showed that Down syndrome (DS or DNS) also known as Trisomy 21 (T21), is a genetic disorder/condition caused by the presence of all or part of a third copy of chromosome 21. It is typically associated with physical growth delays, mild to moderate intellectual disability and characteristic facial features. It is a genetic condition that typically causes some level of learning disability and characteristic physical features.
Many babies born with Down syndrome are diagnosed with the condition after birth and are likely to have reduced muscle tone leading to floppiness (hypotonia), eyes that slant upwards and outwards, a small mouth with a protruding tongue, a flat back of the head or below-average weight and length at birth.
Although children with Down syndrome share some common physical characteristics, they do not all look the same. A child with Down syndrome will look more like their mother, father or other family members than other children without the syndrome.
People with Down syndrome also vary in personality and ability. Everyone born with the syndrome will have a degree of learning disability, but the level of disability will be different for each individual.
Every March 21, the world commemorates the World’s Down Syndrome Day (WDSD). This year, the theme was: “We Decide”, inspired by the United Nations Convention on the Rights of Persons with Disabilities (CRPD) which supports effective and meaningful participation as a core human right.
It was spearheaded by Down Syndrome International (DSI), which has linked up with national charities across the world to develop activities and events to raise awareness and support for those living with Down syndrome. It also highlights the facts of what it is like to have Down syndrome and how those with Down syndrome have, and continue to play, a vital role in communities.
The date itself has been selected for very clear reasons: It is held on the 21st day of the third month, which is a hat-tip to the uniqueness of the triplication of the 21st chromosome leading to Down syndrome.
The National Down Syndrome Society in the United States, said Down syndrome occurs in one of every 800 infants with as many as 6, 000 children born with Down syndrome each year. It is estimated that about 85 per cent of infants with Down syndrome survive one year and 50 per cent of those will live longer than 50 years. There are more than 350,000 people living with Down syndrome in the United States.
A Consultant Paediatrician, Dr Oduero Olatunji, said Down syndrome is usually inherited from the parents as a chromosomal disorder caused by an error in cell division that results in an extra 21 chromosome (three copies of 21 instead of two), which is also called Trisonomy 21:
“This condition predisposes the sufferers to some physical and intellectual challenges, to the extent that instead of 46 chromosomes, they have 47, with an extra chromosome, which manifests only when the child is born.”
Causes and risks factor
Down syndrome is caused by the presence of an extra copy of chromosome 21 in a baby’s cells. In the vast majority of cases, this is not inherited and is simply the result of a one-off genetic mistake in the sperm or egg. Olatunji said:
“There is a small chance of having a child with Down syndrome with every pregnancy, but the likelihood increases with the age of the mother. For example, a woman who is 20 has about a one in 1,500 chance of having a baby with the condition, while a woman who is 40 has a one in 100 chance. There is no evidence that anything done before or during pregnancy increases or decreases the chance of having a child with Down syndrome.
“Normally, each cell in your body has 23 pairs of chromosomes. One chromosome in each pair comes from your mother. The other comes from your father. But with Down syndrome, something goes wrong and you get an extra copy of chromosome 21. That means you have three copies instead of two, which leads to the signs and symptoms of Down syndrome.
“Doctors are not sure why this happens. There is no link to anything in the environment or anything the parents did or did not do. While Down syndrome affects people both physically and mentally, it is very different for each person. And there is no telling early on what its impacts will be.
“For some people, the effects are mild. They may hold jobs, have romantic relationships, and live mostly on their own. Others may have a range of health issues and need help taking care of themselves.
“No matter what symptoms a person with Down syndrome has, early treatment is key. With the right care to develop physical and mental skills –and treat medical issues – children with Down syndrome have a much better chance to reach their full abilities and live meaningful lives.”
Physical symptoms
The symptoms, Olatunji disclosed, vary but people with Down syndrome often share certain physical traits: “For facial features, they may have eyes shaped like almonds (may be shaped in a way that is not typical for their ethnic group); flatter faces, especially the nose, small ears, which may fold over a bit at the top; tiny white spots in the coloured part of their eyes and a tongue that sticks out of the mouth.
“They may have small hands and feet with a crease that runs across the palm of the hand, short fingers and small pinkies that curve toward the thumbs. They may also have, low muscle tone, loose joints, making them very flexible, short height, both as children and adults, short neck and small head.”
Also, study shows that at birth, babies with Down syndrome are often the same size as other babies, but they tend to grow more slowly. Because they often have less muscle tone, they may seem floppy and have trouble holding their heads up, but this usually gets better with time. Low muscle tone can also mean babies have a hard time sucking and feeding, which can affect their weight.
Mental symptoms
The Down Syndrome Support Group of Nigeria (DSSGN), said the syndrome also affects a person’s ability to think, reason, understand and be social. The effects range from mild to moderate.
It added that children with Down syndrome often take longer to reach important goals like crawling, walking, and talking: “As they get older, it may take more time before they get dressed and use the toilet on their own. And in school, they may need extra help with things like learning to read and write.”
Treatments and management
President, DSSGN, Dr Philips Orhue, said the best way to manage children with the condition is to prioritise early medical intervention, education, vocational training and early social integration: “If these were not put together, a lot of them might not be able to live, because their condition predispose them to lots of medical issues, which if not corrected could lead to death at a very young age.”
Treatments for Down syndrome vary.
Another expert said these treatments typically start in early childhood and aim to help people live productive and fulfilling lives: “Your physician will help you develop an appropriate care team for a patient with Down syndrome. The care team may include: primary care physician to monitor growth, development, medical concerns and provide vaccinations, medical subspecialists depending on the needs of the patient (for example, cardiologist, and endocrinologist, geneticist, hearing and eye specialists) and speech therapy to improve the ability to communicate.
“You may also consider physical therapy to help strengthen muscles and improve motor skills. Occupational therapy to help refine motor skills and make daily tasks easier and behavioural therapy to help manage the emotional challenges that may accompany Down syndrome.”
Diet and growth
The Irish Nutrition Dietetic Institute (INDI) said children with Down syndrome have a different growth pattern to that of the general population, their average height is shorter, their head circumference is smaller and their growth rate is slower between ages of three to 36 months:
“It is essential that growth in children with Down syndrome is carefully monitored. Height and weight should be plotted using the growth charts specifically designed for children with Down syndrome from birth to 18 years.
“Infants and children with Down syndrome can have feeding and drinking difficulties. A smaller oral cavity and low muscle tone in the facial muscles can be contributing factors. In addition, the tongue may appear larger due to a high arched palate, a smaller oral cavity and reduced muscle tone in the tongue. Teeth tend to appear at a later stage.
“Many children are mouth breathers due to smaller nasal passages, and may have difficulties coordinating sucking, swallowing and breathing whilst feeding. All of these factors can impact on how a child develops efficient oral and feeding skills.”
The INDI reports further stated that mothers of infants with Down syndrome may have no difficulty breast-feeding, whereas other mothers may choose to bottle-feed their child: “Some infants have no difficulty with the introduction of solid foods and follow the normal weaning process successfully. Sometimes parents prefer to delay the weaning process, depending on their child’s feeding skills.”
Screening for Down syndrome
In some cases, babies with the condition are identified before birth as a result of screening for Down syndrome. Experts insist that screening tests cannot tell for definite if a baby has Down syndrome, but they can tell how likely it is: “If screening suggests there is a chance your baby does have Down syndrome, further tests can be carried out during pregnancy to confirm it.
“If testing indicates your child will be born with Down syndrome, you should be offered genetic counselling to allow you and your partner to discuss the impact of the diagnosis. You may also be offered an appointment to meet a doctor or other health professional who works with children with Down syndrome, who can also tell you more about the condition and answer any questions you may have.”
Life with Down syndrome
Although there is no “cure” for Down syndrome, but there are ways to help children with the condition develop into healthy and fulfilled individuals who are able to achieve the level of independence right for them. This includes: Access to good healthcare, including a range of different specialists; early intervention programmes to provide support for children and parents; good parenting skills and an ordinary family life and education and support groups to provide information and help for parents, friends and families.
Improved education and support have led to more opportunities for people with Down syndrome. These include being able to leave home, form new relationships, gain employment and lead largely independent lives.
However, it is important to remember each child is different and it is not possible to predict how individuals will develop.
Associated health conditions
There are a number of disorders that are more common in people with Down syndrome. These include: Hearing and vision problems, heart disorders, such as congenital heart disease, thyroid problems, such as an underactive thyroid gland (hypothyroidism) and recurrent infections, such as pneumonia
A paediatrician may check a child more often than other children to pick up developing problems as early as possible. If there are concerns about a child’s health, they should be discussed with GP, health visitor or paediatrician.
Worried by the challenges parents go through in managing children with Down syndrome and lack of access to healthcare facilities to manage such, Olatunji called for more enlightenment and improvement of medical facilities: “Children with the syndrome manifest features, such as retarded growth, reduced muscle tone that results in floppiness, small nose and flat nasal bridge, small mouth with protruding tongue, eyes that slant upwards and outwards, flat back of the head, a big space between the first and the second toe, broad hands with short fingers, below average weight and length and palm may have only one crease across it.”
