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Down syndrome is a genetic condition that causes mild to serious physical and developmental problems. People with Down syndrome have an extra chromosome. Chromosomes are group of genes, and your body relies on having just the exact number of them. For most people, each cell in your body has 23 pairs of chromosomes. One chromosome in each pair comes from each parent. With Down syndrome, this extra chromosome causes a wide range of issues that affect you both mentally and physically.

Down syndrome is a lifelong condition. If your child has it, ensure getting the right care early, this can make a big difference in helping your child live a full and meaningful life.

 

Symptoms of Down Syndrome

Down syndrome can present in different ways for each person. Some will grow up to live almost entirely on their own, while others will need help in taking care of themselves (dependent).

Mental abilities vary, most people with Down syndrome have mild to moderate challenges with thinking, reasoning, and understanding. They’ll learn and pick up new skills, but they may take longer to reach important developmental milestones like walking, talking, and developing social skills due to slow mental development.

People with Down syndrome have certain physical features in common. These may include:

  • Eyes that slant up at the outer corner
  • Small ears
  • Flat noses
  • Protruding tongue
  • Short neck
  • Small hands and feet
  • Short stature
  • Loose joints
  • Weak muscle tone

 

Causes of Down syndrome and Risk Factors

Each cell in the body has 23 pairs of chromosomes, one chromosome in each pair comes from both parents. But with Down syndrome, something goes wrong and there is an extra copy of chromosome 21. That means there are three copies instead of two, which leads to the symptoms of Down syndrome.

It is not common, but it is possible to pass Down syndrome from parent to child. Sometimes, a parent has what “translocated” genes. – when some of genes are not in their normal position.

The parent doesn’t have Down syndrome because they have the right number of genes, but their child may have what is called “translocation Down syndrome.” Not everyone with translocation Down syndrome gets it from their parents — it may also happen by chance.

Down Syndrome Diagnosis

Down syndrome may be suspected in a newborn based on the baby’s appearance. That can be confirmed by a blood test called a karyotype test which will show if there’s an extra chromosome 21.

Down syndrome screening in Pregnancy

Routine tests done during pregnancy (antenatal care) can check if it’s likely your baby has Down syndrome. If those results are positive, or if you’re at high risk, you may choose to have more invasive tests to be certain.

In the first semester you may have:

  • Blood test – The levels of a protein called PAPP-A and a hormone called hCG in your blood will be measured. Any result outside normal range is a flag that there is a problem with thebaby
  • Ultrasound.

In the second you may have:

  • Blood tests.
  • Ultrasound – As baby develops, there is an increased chance that ultrasound can show some of the physical features of Down syndrome.

Other kinds of tests can diagnose Down syndrome before your baby is born through checking a sample of their DNA for an extra chromosome 21:

  • Chorionic villus sampling (CVS) – This can be done during the first trimester, using cells from the placenta.
  • Amniocentesis – Fluid is taken from the amniotic sac surrounding the baby, usually during the second trimester.
  • Percutaneous umbilical blood sampling (PUBS) – This is done in the second trimester using blood removed from the umbilical cord.

Treatments of Down Syndrome

There is no specific treatment for Down syndrome but there is a wide range of therapies designed to help people with Down syndrome reach their full potential and live a life they desire.

Physical and behavioral therapies

There are different therapies available to help a child’s unique physical, behavioral and communication needs and can have a significant positive impact on children’s learning and development.

Therapies include:

  • Occupational therapy to improve motor skills, such as using the hands and other parts of the body, and help children deal with sensory inputs from the environment
  • Physical therapy to increase mobility and muscle strength and help children to work within functional limitations
  • Speech therapy – to help improve communication skills and self-expression
  • Behavioral therapy – to manage emotional and behavioral problems
  • Educational therapy – Most of the educational therapies used to address the core symptoms of Down syndrome are provided through programs run by states and local school systems.
Medical treatment

Congenital heart defect is common among children with Down syndrome. Babies with congenital heart conditions are treated by pediatric cardiologists. Some of the more common health problems among children with Down syndrome are hearing loss, obstructive sleep apnea, ear infections, eye diseases.

Depending on the child’s other medical issues; medications can treat conditions like seizure disorders, hypothyroidism and childhood leukemia.

 

World Down Syndrome Day is marked each year on March 21

 

 

 

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