Everything You Need To Know About Down Syndrome

What is Down Syndrome and how does it affect a child’s growth and development?

Down Syndrome, also known as Trisomy 21 is a genetic disorder where there is abnormal cell division during the development of a fetus in the womb. It is caused by an extra genetic material from chromosome 21.

Chromosomes are threadlike structures containing proteins and DNA which make up a gene. People with Down Syndrome have a 3rd 21st chromosome in each cell of the body, hence the various manifestations, for example, facial abnormalities, hand abnormalities, developmental delay ( growing slower than age group, intellectual disability, higher risk of certain diseases like heart defects, leukemia, and intestinal problems.

What are the risk factors?

1. Advanced maternal age (for older mothers, it is thought that the older chromosomes get many problems during the division of a cell to form a baby in the womb).

2. Having previously had a child with Down Syndrome.

3. Having a Down Syndrome gene.

Common Misconceptions about Down Syndrome

Myth	Fact
All people with Down syndrome have the same type of impairment.	Some people have mild impairment due to the type of Down Syndrome.
Adults with Down Syndrome cannot be employed.	With early intervention, these children can grow into adults with developed skills.
They are always sick.	Not true, they just have an added risk of certain diseases, and not all children will eventually develop those diseases or are born with them.
​It’s a hereditary disease.	No, it’s a disorder of cell division to form a baby.

What are some common health issues that children with Down syndrome face and how are they managed?

1. Born with heart disease (holes in the heart); this needs to be screened, and if present, there should be an early visit to the heart doctor for treatment.

2. Higher likelihood of leukemia; there is a need for early screening.

3. Speech difficulty due to a large tongue; one needs a speech therapist to address this.

4. Hearing impairment; can also affect speech and there is therefore a need for early hearing screening and hearing aids if necessary.

5. Reduced muscle tone (Weak muscles); this slows activity and affects posture. There is a need for specific exercises to strengthen muscles.

What advice would you give to parents of children with Down Syndrome?

1. Occupational therapy to make these children as independent as possible e.g. dressing up.

2. Frequent doctor reviews (2 to 3 times a year).

3. Remain positive and supportive of the child.

4. Most children need to continue with exercises, mental health development, and occupational therapy from home after a session with a speech-occupational therapist

Pediatric services at Enlympo

1. General pediatrics for children and adolescents to 17 years (consultations, laboratory investigations, medical treatment).

2. Chronic care like asthma, and sickle cell disease.

3. Immunisation services.

4. Children clinics