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Explain Down Syndrome – Prevention and Treatment

Explain Down Syndrome – Prevention and Treatment


What Down Syndrome newborns need to know?

Down syndrome also called trisomy 21 is a condition of genetic disarray caused by the presence of unusual carving up of the cells that leads to the third copy of chromosome 21.
The disease was discovered by a British doctor named John Langdon, whose name is stated in the disease itself.

The disorder is generally caused by development changes and bodily features of down syndrome. Someone going through this becomes blunt physically and suffers from mental and cerebral disabilities and growing problems.

Down syndrome is a chronic disorder which can be reduced but cannot be faded from one’s life completely. It is a lifelong disability and is mostly caused by Genetics and family history.
The thinking ability and IQ level of the person vary widely.

This is why a proper diagnosis of the mother is needed during her pregnancy for the healthy living of the child. Screening techniques like Computer tomography scans ( CT scans ) can help to know the disorder in the child. 

Symptoms of Down syndrome

The symptoms of the down syndrome vary widely depending on person to person. The intellectual and physical disorders may be seen in a mild phase in someone, a moderate phase in others and can be very severe in some.
Unusual behavioural changes can be seen in children and adults to have down syndrome. Facial features also differ from normal people.

Some of the common Symptoms of Down syndrome

• Demolished face structure

• Compact head

• Littleneck

• Poke out tongue

• upward sloped of the eyelids of the child

• Abnormal and tiny ears

• Weakened muscles

• Small fingers of hands and legs

• Abnormal flexibility in the body

• Short heighted

• White spots on the Iris

• Inability to speak and price to express his feelings through actions only most of the time

When to see your doctor for Down syndrome?

In most cases, when pregnant women go for regular check-ups and a child diagnosed with the disease is generally diagnosed by the doctor before childbirth only. But most doctors fail to diagnose the diseases of the child before their birth. Therefore it is the responsibility of the parents to notice their child’s behaviour growth and intellectual ability so that things do not version and they meet the doctor at the right time for the proper and earlier treatment.

What are the various cause of Down syndrome

You all know that there are 23 pairs of chromosomes in every person’s body. Down syndrome is a disease where cell division occurs including the 21 chromosomes. This leads to the extra division of chromosome 21.

This extra division results in unusual behaviour and developmental issues in the children that lead to down syndrome disorder.
Now the question arises which kind of genetic variations lead to the disease?

Although there are many varieties of genes, the major three variations include the following

which leads to down syndrome –

• Mosaic syndrome – although this syndrome is rare yet possible where the human consists of few cells with an extra copy of the 21 chromosomes.

• Translocate syndrome- when chromosome 21 translocates with another chromosome IT results in translocation of down syndrome.

• Trisomy 21- this is the most common genetic variation of down syndrome where the person has three copies of chromosome 21.

The risk of Down syndrome is

• Increased maternal Age – in most cases, it is found that women planning for pregnancy at the age of 30 + have more chances to generate down syndrome in their child.

• If one child is already a down syndrome patient then there is a high risk that the other child also generates the disease in themselves.

• Parents who have genetic translocation for Down syndrome in themselves can be the carrier of the disease in their children.

Down syndrome complications

Down syndrome disease must not be taken lightly and treatment is required as it may lead to various serious complications which is the ultimate cause of death. Some of such complications include the following-

• Gastro intestinal abnormalities

• heart disease

• Obesity

• Autoimmune diseases

• Cancer

• Pneumonia

• Leukaemia

• dementia

• Atlantoaxial instability

• Dental problems

• Seizures

• Ear and eye infections

• Endocrine issues

Down syndrome prevention

Unfortunately and honestly, down syndrome is really not preventable. It is not in the hands of the child or the mother. As the mother only carries that genetic variation that leads to down syndrome, the only thing a mother can do is before planning for baby, they should go for a proper diagnosis of their body take the help of their doctor to study the genetic disorder to understand if she carries such things which can ruin the child life. 

Various myth created about down syndrome disease

 Fact – the life expectancy of down syndrome has improving in the past year and is about 60 years which is not a less time.

Fact – this is a partial method. Down syndrome is not inherited all the time but 3% of the cases of down syndrome are seen where the translocation is inherited where it is the family history or from the parent to the child.

Fact – down syndrome was rare in some Era but now it is the most common disorder in children where everyone out of 691 children suffers the disease.

Fact – this is also a partial method. Down syndrome is not completely curable but the disease is now prevented and manage to a great extent compared to the past years. 

How do doctors diagnose down syndrome in the child ?

• Integrated Screening test of the mother during pregnancy

• Diagnostic test –1. Chorionic villus sampling ( CVS )

2. Amniocentesis

• Blood sample
• Nuchal translucency translation
• Ultrasound

Treatment options available for down syndrome –

As the down syndrome is a mental condition no particular medication vaccine or any specific treatment can help to cure the disease. There are various therapy and options that the doctor will provide you based on the face of the down syndrome your child suffers from. Some of the options they may suggest include the following –

• Physical therapy

• occupational and speech therapy

• Socializing recreational therapies

• Make them read motivational books and watch inspirational movies

• Engage the child in your day-to-day activities

• leave them alone for a few time

• Make them participate in activities like sports

• Don’t make your child feel disabled

Frequently asked questions about down syndrome-

Answer – down syndrome itself is not life threatening but yes it leads to various fatal diseases including heart disease and cancer which are the ultimate cause of death.

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