Down Syndrome

Salam & Hi.

Today i want to share with you about Down Syndrome.

Since i work in a hospital, i can easily get an information about many type of disease.

But for today i only want to tell you about:

What is Down Syndrome?

-It is the common chromosomal disorder associated with mental retardation.

- It is due to the presence of an extra number of chromosome 21. Sometimes we call it Trisomy 21.

- The risk of a woman having a child with Down Syndrome increases with her age at the time of the conception. 

Karyotype of Down Syndrome. They have 3 chromosome at the location 21

Physical characteristics associated with Down Syndrome

- Reduced muscle tone (babies appear "floppy")

- Flat facial features with a small nose.

- Upward slant of the eyes.

-Small skin fold on the inner corner of the eyes (epicanthic folds).

- Enlarged tongue that tends to stick out.

- Small, abnormally shaped ears.

- Single deep crease across the centre of the palm.

- Fifth finger has only one flexion furrow instead of 2.

-Hyperflexibility (excessive ability to flex joints)

- Extra space between the big toe and the second toe (sandal gap)

Children with Down Syndrome are often identified at birth with some children exhibit only a few characteristic while others exhibit many.

They need to be investigated and followed up for possible associated problems. Genetic test must be done to confirm the form of Syndrome Down.

What medical problems can they have?

1. Learning disability

2. Congenital heart defect

3. Recurrent respiratory infections

4. Gastrointestinal disorder

5. Hearing impairment

6. Visual impairment from cataracts, squints

7. Short stature

8. Hypothyroidism

9. Leukaemia

10. Alzheimer's disease

What should you do when you have a Down Syndrome child?

First, do not deny the right of your child for having a normal life.

Give them education. Send them to school.

You can send to:

- early intervention programme

- Pre-school for special children

- Speech therapy

- Special school for learning disability.

Make sure that your child is independent, and prepare the child for adulthood and workforce. Also improve their social and living skills.

Credit to Pediatric Department,Putrajaya Hospital