Chromosomes:
They are small “packages” of genes in the body. Each cell in the human body contains 23 pairs of chromosomes. Usually, a child is born with 46 chromosomes, half of which are from the mother and the other half from the father. Their function is to determine how the child’s body is formed and functions as it grows during pregnancy and after birth.
Down's syndrome:
It is a condition that occurs when a person has an extra chromosome called “Trisomy 21”. This means that they have a total of 47 chromosomes instead of 46 chromosomes. This extra chromosome changes the development of the child’s brain and body; Which may cause mental and physical problems.
Types of Down syndrome:
People often cannot distinguish between each type without looking at chromosomes because the physical traits and behaviors are similar. The types are:
- Trisomy 21: About 95% of people with Down syndrome suffer from it, as each cell in the body contains 3 separate copies of chromosome 21 instead of the normal two copies.
- Down Syndrome: This type represents a small percentage of people with Down Syndrome (about 3%). This occurs when there is an extra part or all of an extra chromosome 21, but it is linked or “mutated” to a different chromosome instead of being a separate chromosome 21.
- Mosaic Down Syndrome: This type affects about 2% of people with it. It means a mixture, as some of their cells have 3 copies of chromosome 21, but other cells have the typical 2 copies of chromosome 21.
Symptoms:
Although people with Down syndrome may act and look alike, each person has different abilities. They usually share an Intellectual Quality in the moderately low range and are slower to speak than other children. Common physical traits:
- Flattened face and bridge of the nose.
- Almond-shaped, slanting eyes.
- Short neck.
- Two small ears.
- Tongue that tends to stick out of the mouth.
- Small white spots on the iris (the colored part)
- Small hands and feet.
- One line across the palm (palmar crease)
- Little pinky fingers that sometimes bend toward the thumb
- Weak muscle tone or loose joints
- Short in length.
- There is a wide gap between the first and second toe.
Causes:
No one yet knows for sure why Down syndrome occurs or how many different factors play a role, but one factor that increases the risk of having a child with Down syndrome is the age of the mother. A mother who is 35 years of age or older is more likely to develop the Down syndrome, however, the majority of children with Down syndrome are born to mothers under 35 years of age.
Health problems in people with Down syndrome:
Some of the most common health problems:
- Hearing loss.
- Obstructive sleep apnea (a condition in which a person's breathing temporarily stops during sleep).
- Ear infections.
- Eyes illnesses.
- Heart defects present at birth.
- Intellectual disability: Almost all children with Down syndrome suffer from an intellectual disability, but the degree of impairment can vary greatly from one child to another. They can learn basic skills, but they take a little longer than other children.
Treatment:
Down syndrome lasts a lifetime, and early intervention services (such as: language, speech, and rehabilitation) often help improve their physical and mental abilities. Children must be examined at regular intervals to ensure they receive appropriate treatment and also to avoid complications.
Regular periodic examinations for people with Down syndrome:
Growth check:
- On the first visit.
- At 2, 4, 6, 9, 12, 15, 18 and 24 months of age.
- Once a year after the age of two years (until adulthood).
Sleep examination:
Starting from the time the child reaches one year, attention should also be paid to the child’s sleeping habits. Tell the doctor if he sleeps in an unusual position or does not sleep well.
Examination of thyroid hormones:
- At birth
- At 6 months, 12 months
- Once a year after that.
Hearing screening:
- At birth
- At 6 months old
- At least once a year thereafter.
Eye examination:
- At the age of 6 months and then every year until the age of 5 years.
- Every two years from 5 to 13 years old.
- Every 3 years from the age of 13 to 21 years.
Heart examination:
The baby's heart should be checked for problems before and after birth.
blood test:
- At birth.
- Every year from the age of 1 to 21 years.
Muscle and nerve problems:
At any visit, the doctor should be informed if the child suffers from:
- Problems with walking.
- Uses his hands or arms differently.
- The child has problems controlling his bowels or bladder.
- The child suffers from neck pain or his head tilts to one side.
- The child suffers from muscle weakness.
Instructions for people with Down Syndrome:
- Conducting medical examinations regularly.
- Get vaccinations to avoid infection.
- Search for facilitation services provided by agencies and associations in the Kingdom of Saudi Arabia and register for them.
Preparing the child with Down syndrome for school:
Going to school is a big step in a child's life, where practicing a routine, a way to communicate with others, and independence skills (such as dressing, feeding, and going to the bathroom) help prepare the child for a successful transition.
- When registering at school, be sure to mention that the child suffers from Down syndrome.
- Take a tour of the classroom or school before the start date.
- Use videos or pictures of the school area to help the child become familiar with his or her new environment.
- Meeting school staff, including teachers and others, before entering school is beneficial.