Down Syndrome
Down Syndrome

Down Syndrome: 3 Types, Symptoms, Causes, Diagnosis, and Treatment

Down syndrome is a genetic disorder that causes the sufferer to have a low level of intelligence, and a typical physical disorder. Some sufferers may experience mild abnormalities, but others may experience severe disorders that lead to heart disease.

Down syndrome is a genetic disorder that is quite common. WHO data estimate 3000 to 5000 babies are born with the condition each year. With proper treatment, patients can live a healthy life and be able to undergo activities independently, although the disorder has not been cured.

Down Syndrome Types

The following are three types of Down syndrome that can be known, namely:

Translocation.

This type occurs in about 4 people with Down syndrome. Translocation is a rare type that may be passed down from parents in children.

Mosaicism.

The rarest type has a milder condition with fewer growth barriers.

Trisomy 21.

This type of down syndrome, trisomy 21 is most commonly and experienced by more than 90 percent of people with Down syndrome.

Down Syndrome Symptoms

People with Down syndrome have typical physical disorders, which can sometimes be detected before birth, among others:

  • More head size or small.
  • The back of the head is flat.
  • The angle of the outer eye goes up.
  • The shape of the ears is small or abnormal.
  • Cracked tongue
  • Palms that only have one fold.
  • Eyes tilted up and out.
  • Weight and length at birth is below the weight in general.
  • Small mouth.
  • The nose part is small and the nose bone is flat.
  • Wide hands with short finger size.
  • Short stature.
  • It has a small head.
  • The tongue protrudes out.
  • There is a wide distance between the first and second toes.

In general, children with Down syndrome have a lack of learning ability and inhibit growth that causes differences with each other.

Although Down Syndrome sufferers have the same physical characteristics, they do not look exactly the same as the twins. Sufferers of Down syndrome also have different behaviors and abilities.

Sufferers usually experience late learning and developmental disorders such as sitting, standing, walking, and talking. In addition, people with Down Syndrome can also experience some health problems, such as:

  • Heart diseases such as congenital heart disease (CHD)
  • Hearing and vision loss
  • Thyroid disorders
  • Recurrent infections such as pneumonia.

Down Syndrome Causes

Down Syndrome is caused by a genetic disorder, in which there are additional chromosomes in the cell. Normally, cells have only a pair or two of chromosomes. But in Down syndrome, there are 3 chromosome number 21, so this disease is also called trisomy 21. In most cases this syndrome is not lowered, but occurs due to genetic mutations in spe**rm or ovum.

The likelihood of Down Syndrome increases as the mother gets older while pregnant. The risk also increases if a mother has already given birth to a child with Down Syndrome before or one of the parents has Down Syndrome.

Down Syndrome Diagnosis

Diagnosis of Down Syndrome can be done by physical examination (clinical diagnosis) and cytogenetic examination (laboratory examination by looking at chromosomes) to ascertain the type with gold standard examination.

In hospitals or health facilities that do not have cytogenetic laboratories usually clinical diagnosis can be upheld by a pediatrician or geneticist.

However, to ensure its type (classic or translocation) then Cytogenetics examination is very important. The importance is to determine the type of Down Syndrome that is inherited or not, so that from the results of Cytogenetics examination should be done genetic counseling to provide information to parents about the risk of being inherited or not. 

Down Syndrome Treatment

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

According to Julie Hughes on the Down Syndrome Educational International page, there are some tips to improve the ability to remember children with Down syndrome, including:

Overcome hearing problems experienced by children

If your child has hearing loss, this will make it harder for him to learn to remember. The child may be able to see the motion of the lips, but it is difficult to catch the sound of the words that are spoken.

Therefore, parents need to work with a doctor to deal with hearing problems that the child has.

You can reduce the noise around so your child can hear the noise more clearly.

Teach your child to distinguish sounds when speaking

The next step to improve the ability to remember a child with Down syndrome is to teach him to distinguish the sounds of a word.

It starts by encouraging the child to babbling by asking him to chat.

You can introduce various sounds of animals or objects around. After entering the age of one year, children usually begin to be able to copy certain words that have meaning, such as milk.

In order for the child not to mis-recognize the word, you must distinguish every word spoken. Remember, there are many words that sound almost the same.

Besides through conversation, you can also teach this with the game. You can also get your child into preschools that suit their age and needs.

Use tricks so your child can focus

To increase your child’s attention, you need to stare directly at your child as you speak.

Try to align your face with the child. Put your face while holding the side of his shoulder and say the words and information you want to convey.

When you get your child’s full attention, ask him to sit still and follow every word you say.

At the beginning of the exercise, maybe your child will distract him from you several times. However, if this is often done, your child will eventually get used to it.

Teach children to remember more

You can ask your child to remember new animal names, fruit names, numbers, and words.

This activity can be done through reading books with children, playing musical instruments, or singing songs together.

Read also:
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Down Syndrome: 3 Types, Symptoms, Causes, Diagnosis, and Treatment

Post in | Last updated: January 5th, 2021 |