Down Syndrome
Understand the key concepts of Down Syndrome
Chromosomes
Normally, each cell of a person contains 46 chromosomes; each chromosome contains a variety of genes which dictate our appearance, intelligence, and skin colour. Abnormal chromosomes can lead to the possibility of Down Syndrome. Changes in chromosomes are mainly from three categories:
- Trisomy 21
Trisomy 21 is caused by the presence of an extra copy of chromosome 21; the gamete now has 24 chromosomes. When combined with a normal gamete from the other parent, the embryo then has 47 chromosomes. Trisomy 21 is the cause of approximately 95% of observed cases of Down Syndrome. - Robertsonian translocation
The long arm of chromosome 21 is attached to another chromosome, often chromosome 14 or chromosome 21. This is the cause of 5–6% of observed cases of Down Syndrome. - Mosaicism
When some of the cells in the body are normal and other cells have trisomy 21, we call it mosaic Down Syndrome (46 or 47 chromosomes). This case is rare and is the cause of only 1–2% of observed cases of Down Syndrome.
600
In 1866, a British doctor, John Langdon Down, first described the condition, which subsequently took his name due to his perception that children with Down Syndrome shared physical facial similarities.
The cause remains a mystery. Although it is statistically much more common in babies of older parents, other factors may also play a role.
The incidence of Down Syndrome is estimated at one per 600 births.
LOHAS
People with mild or moderate intellectual disabilities are able to take care of themselves, develop their potentials, communicate with others and hold jobs, thus living the same lives of ordinary people through learning.
Intellectual and verbal expression disabilities may influence their social development skills. However, due to the cheerful and direct personality of many individuals with Down Syndrome, they can overcome difficulties in social interaction as long as they are given suitable opportunities in an environment conducive to the learning and development of interpersonal skills.
Friendly and straightforward
Individuals with Down Syndrome have their own unique personality and temperament. They generally enjoy music and dance, like to imitate others, express optimism, and love making friends and helping others. They are friendly and straightforward, but can sometimes be slightly stubborn. The rest is left for you to explore as you get to know them better.
What should we bear in mind when getting along with them?
Appearance
Anyone who initially sees a person with Down Syndrome may think they all come from the same mould as they have some or all of these physical characteristics: a broad head or round face, a flat nasal bridge, a small mouth, a coarse tongue, muscle hypotonia (poor muscle tone), short fingers, excessive space between their large toe and second toe, a short stature, and a tendency towards obesity. Of course, not everyone with Down Syndrome has the same features. Each individual is unique, just like everyone else.
Health
Individuals with Down Syndrome commonly have the following health problems:
- Slower Growth: This is often associated with some impairment of their cognitive ability and physical growth. Individuals with Down Syndrome tend to have a lower-than-average cognitive ability, and need more time to adapt and learn.
- Congenital Heart Disease: Individuals with Down syndrome have a higher risk of congenital heart defects; 40-60% of babies born with Down Syndrome may need heart surgery during childhood. Heart problems may also lead to other complications, such as pneumonia.
- Ears: Recurrent ear infections, with cases of hearing loss or deafness.
- Eyes: Conditions such as myopia, strabismus (crossed eyes), and blocked tear ducts leading to frequent watery eyes.
- Thyroid dysfunctions which may lead to emotional and physical problems.
- Poor muscle tone results in weaker motor skills such as inflexible fingers, making tasks like buttoning a shirt more difficult.
- Obstructive sleep apnea.
- A tendency towards obesity.
Communication skills
Speaking:
- Take a simple and direct approach with a positive tone and clear articulation, while maintaining eye contact.
- Avoid vague or meaningless content.
Listening:
- Pay close attention to what is being said, including their facial expressions and gestures.
- Ask them to repeat what they have said to ensure proper understanding.
Listen carefully and give them plenty of time to express themselves.
Interacting:
- Set a good role model for them.
- Assist them in expressing their emotions.
- Give individuals plenty of learning opportunities to avoid reliance.
- Direct the conversation to their favorite topics and interests.
- Pay attention to what they say and give them appropriate time to respond.
- Reply based on the other individual’s age and background.
- Clear reward and punishment actions (right or wrong should be judged immediately and due encouragement given).
- Avoid negative criticism such as ‘stupid’ or ‘useless’, or they will feel that you are looking down on them!
Q&A
Can Down Syndrome be cured?
Down Syndrome is not a disease, but a condition caused by genetic factors; hence, it cannot be cured by medication or surgery. What people with Down Syndrome need is early and adequate training and learning opportunities. They can grow up healthily and happily through continuous learning.
Our sincerest hopes
Everyone has their strengths and weaknesses, and people with Down Syndrome need more acceptance.
Individuals with Down Syndrome have the right to social resources, and also the responsibility to contribute to society.
They are capable of working as long as employers give them the opportunity.
May we live in a society without prejudice, and everyone can enjoy equality, love and friendship.