Down Syndrome

Table of Contents

What is Down Syndrome?

Down syndrome is when a person has an extra chromosome. Chromosomes determine the shape of the fetus during pregnancy and how the fetus functions as it grows and develops in the womb.

A normal baby is usually born with 46 chromosomes, whereas a Down syndrome baby has an extra copy of one of these chromosomes (trisomy), which is chromosome 21 or also known as Trisomy 21. This extra copy will affect the baby’s body and brain development, causing physical and mental abnormalities.

People with Down syndrome may act and have distinctive physical features with different levels of abilities. People with Down syndrome usually have a small to moderate IQ range which causes them to speak slower compared to other children their age.

Types of Down Syndrome

There are three types of Down syndrome, which may be difficult to distinguish without identifying the chromosomes, as sufferers have similar behaviors and physical characteristics. Below are types of Down syndrome that you should know: 

  • Trisomy 21

Each cell in the body has 3 separate copies of chromosome 21 instead of 2 regular copies.

  • Translocation

Occurs when an extra part or all of the extra chromosome 21 is attached to another chromosome.

  • Mosaic

In children, they have 3 copies of chromosome 21, but other cells have 2 distinctive copies of chromosome 21.

Causes of Down Syndrome

Regardless of the type of Down syndrome a person may have, people with Down syndrome have an extra chromosome 21 in all or some of their cells. The extra genetic material will affect a child’s development and have him/her develop characteristics associated with Down syndrome.

The extra copy of chromosome 21 may have originated from the father or mother. However, about 5% of cases are from the father.

Until now, the cause of the extra chromosome is unknown. Maternal age is the only factor associated with an increased chance of having a baby with Down’s syndrome.

According to the National Down Syndrome Society (NDSS), due to the higher birth rate in younger women, about 80% of children with Down syndrome are born to women under 35. 

Further research is needed to prove Down syndrome may be caused by environmental factors or the parents’ lifestyle before or during pregnancy.

When to See a Doctor for Down Syndrome

There are two basic tests that doctors usually perform to diagnose Down syndrome during pregnancy: screening tests and diagnostic tests. 

Screening Tests

A screening test is done to help doctors determine the risk of a baby developing Down syndrome. It includes a combination of blood tests, such as MSAFP, Triple Screen and Quad-Screen. In addition, an ultrasound exam may also be required to produce images of the baby while they are still in the womb. The presence of extra fluid indicates a genetic problem.

Diagnostic Tests

Diagnostic tests are usually performed right after screening tests. The goal is to confirm the diagnosis of Down syndrome. There are several types of diagnostic tests, namely:

  • Chorionic villus sampling (CVS), to check for placental problems.
  • Amniocentesis, to check amniotic fluid.
  • Percutaneous umbilical blood sampling (PUBS), to check blood from the umbilical cord.

A series of diagnostic tests are performed to identify changes in chromosomes that indicate characteristics of Down syndrome.

Symptoms of Down Syndrome

Down syndrome may be characterized through intellectual and developmental problems or certain health problems, such as heart problems. Children and adults with Down syndrome have distinct facial features.

Though not all people with Down syndrome have the same features, some of the more common features include:

  • Flattened face
  • Small head
  • Short height
  • Short neck
  • Poor muscle tone
  • Excessive flexibility
  • Upward slanting eye lids (palpebral fissures)
  • Protruding tongue
  • Broad, short hands with a single crease in the palm
  • Relatively short fingers and small hands and feet
  • Unusually shaped or small ears
  • Tiny white spots on the colored part (iris) of the eye called Brushfield’s spots

Infants with Down syndrome may be average-sized, but typically they grow slowly and remain shorter compared to other children their age.

Treatment for Down Syndrome

Down syndrome is a genetic disorder. Early treatment for infants and children with Down syndrome can make a big difference in improving their quality of life, including their physical and intellectual abilities. 

Most treatment services focus on helping sufferers to develop their skills as fully as possible. These services include speech, physical therapy, and so on.

Children with Down syndrome may also need extra help or attention at school. Therefore, you must make the right decisions for your child’s treatment and education. Work with a team of health care providers, therapists and teachers you trust.

Treatment Cost for Down Syndrome

Down syndrome is not a disease that can be treated, but you can choose the right services and education for your child. Treatment services may vary depending on your child’s particular needs. 

For more details regarding the estimated treatment cost for Down syndrome at home and abroad, contact Smarter Health.

Prevention of Down Syndrome

There is no way to prevent Down syndrome. If you are at high risk of having a child with Down syndrome or already have one child with the disorder, you may need to consult a genetic counselor before deciding to become pregnant to prevent genetic disorders or birth defects.

A genetic counselor can help you understand your chances of having a child with Down syndrome. He or she will also help you understand the range of prenatal tests available by explaining the pros and cons of each test. 

Home Remedies for Down Syndrome 

Children with Down syndrome tend to do well with daily routine. Below are some tips recommended by WebMD:

  • Give your child chores around the house.
  • Always support your child as they try and learn new things.
  • Use pictures to create a daily schedule for your child to see
  • Take time to play, go outside, and have fun together.
  • Support your child in managing daily tasks on their own.
  • Let them take reasonable risks and see what they manage to do well.
  • Encourage your child to play with other children who do or do not have Down syndrome.
  • Get in the habit of asking your child to try again after making a mistake. Offer to help if your child seems to need it.
  • Let your child make their own decisions when possible. It’s as simple as letting your child choose what to wear.
  • Find out what your child learned at school and see if your child can apply the lessons in their daily lives.
  • Create a daily routine and stick to it as best you can. For example, in the morning you have to get up, shower, dress, and have breakfast. 
  • Support your child in solving a problem, such as how to deal with problems with friends or face problems at school. Help them do it themselves.

Have more questions about Down syndrome? Please write them down in the comment section below.

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