Down Syndrome: Causes, Types, Symptoms, and Treatment

Do you know that Down Syndrome is a genetic disorder?

Down Syndrome is a condition in which a child is born with an extra copy of their 21st chromosome, hence its name, Trisomy 21.

The development of this genetic material causes developmental changes and physical features of Down Syndrome.

Moreover, Down Syndrome can vary in severity among individuals, thus, causing lifelong intellectual disability and developmental delays.

It is one of the most common genetic chromosomal disorders and causes of learning disabilities in children.

Furthermore, it can also commonly cause other medical abnormalities.

These include heart and gastrointestinal disorders.

A better understanding of Down Syndrome and early interventions can greatly increase the quality of life of your child and even if someone is around you.

It can help them live fulfilling lives.

Keep on reading to learn more about it in detail.

Causes of Down Syndrome

In all cases of reproduction, both parents pass on their genes to their children.

These genes are then carried in the chromosomes, and when the cells of your child develop, each cell is supposed to receive 23 pairs of chromosomes.

One of the things to note is that normally, every human has 46 chromosomes total.

Half of the chromosomes are from the mother and half comes from the father.

If your child has Down Syndrome, one of the chromosomes does not separate properly.

The baby ends up with three copies or an extra partial copy of chromosome 21 instead of two.

This extra chromosome 21 causes problems like the brain and physical features of your child develop.

According to the National Down Syndrome Society, NDSS, about 1 in 700 babies in the United States are born with Down Syndrome.

It is the most common genetic disorder in the United States.

Types of Down Syndrome

The following are the types of Down Syndrome:

Trisomy 21

This one means that there is an extra copy of chromosome 21 in every cell and is one of the most common forms of Down Syndrome.


This condition occurs when a child is born with an extra chromosome in some, but not all of their cells.

In such a case, Mosaic Down Syndrome tends to have fewer symptoms than those with Trisomy 21.


In this type of Down Syndrome, children have only an extra part of chromosome 21.

Moreover, there are 46 total chromosomes, however, one of them has an extra piece of chromosome 21 attached to another chromosome.

Will your child have Down Syndrome?

In certain cases, there are greater chances of you giving birth to a child with Down Syndrome.

According to the Centers for Disease and Prevention, if you are a mother of age 35 and older. then you are more likely to have a baby with Down Syndrome than younger mothers.

This probability increase as you get older.

Moreover, research suggests that paternal age has an effect as well.

According to another study, fathers over 40 years of age have twice the chance of having a child with Down Syndrome.

In other cases, parents who are more likely to have a child with Down Syndrome are:

  • family history of Down Syndrome
  • individuals who carry the genetic translocation.

Furthermore, it is important to remember that no one of these factors means that you will certainly have a child with Down Syndrome.

However, statics and a large population may increase the chances that you may have.

Symptoms of Down Syndrome

With the help of screening during pregnancy, your doctor can estimate the likelihood of carrying a baby with Down Syndrome.

However, you will not experience any signs and symptoms of carrying a child with Down Syndrome.

At birth, if your baby has Down Syndrome, then they will have certain characteristic signs.

These are:

Flat facial features, small head and ears, short neck, bulging tongue, eyes that island upward, atypically shaped ears, and poor muscle tone.

Moreover, an infant with Down Syndrome can be born with an average size but will develop more slowly than a child without this condition.

It is important to note that people with Down Syndrome often have some degree of developmental disability.

However, it ranges from mild to moderate.

Mental and social development delays mean that your child could have the following:

Impulsive behavior, poor judgment, short attention span, and slow learning capabilities.

Certain medical complications can also accompany this syndrome and these include:

Congenital heart defects, hearing loss, poor vision, cataracts, or cloud eyes, leukemia, and hip problems like dislocations.

Furthermore, chronic constipation, sleep apnea, dementia, hyperthyroidism, obesity, late tooth growth causing other chewing problems and Alzheimer’s disease later in life are medical complications.

People with down syndrome are also prone to infections and may struggle with respiratory infections, urinary tract infections, and skin infections.

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Screening for Down Syndrome during Pregnancy

In the United States, screening or diagnostic tests during pregnancy is a routine part of prenatal care.

If you are a woman over 35 years of age, and the father of your baby is above 40 years of age, or there is a family history of Down Syndrome, you may want to get an evaluation.

These will be carried in during:

First Trimester

An ultrasound evaluation and blood tests can help look for Down Syndrome in your fetus.

These tests have a higher false-positive rate rather than tests your doctor will perform in later stages of pregnancy.

If the results are not normal, your doctor will follow up with an amniocentesis after the 15th week of your pregnancy.

Second Trimester

With the help of an ultrasound and quadruple marker screen, QMS, your doctor can identify Down Syndrome and ofter defects in the brain and spinal cord.

This test will be carried out between 15 and 20 weeks of pregnancy.

If any of these tests are not normal, you will be considered at a higher risk for birth defects.

Additional Prenatal Tests

Your doctor may order additional tests to detect Down Syndrome in your baby.

These may include:

Amniocentesis: In this test, your doctor will take a sample of amniotic fluid to examine the number of chromosomes your baby has.

This test is often done after 15 weeks of pregnancy.

Chorionic Villus Sampling, CVS: Your doctor will take cells from your placenta to analyze fetal chromosomes.

Moreover, they will perform this test between the 9th and 14th week of pregnancy, however, it can increase your chances of miscarriage.

But according to Mayo Clinic, these chances are only by less than 1%.

Percutaneous Umbilical Blood Sampling, PUBS, or Cordocentesis: During this test, your doctor will take blood from the umbilical cord and examine for chromosomal defects.

They will perform this test after the 18th week and there is a higher risk of miscarriage, thus, they will only perform this test if all other test results are uncertain.

In some cases, women choose not to undergo these tests because of the risk of miscarriage.

They would rather have a child with Down Syndrome than lose the pregnancy.

Tests at Birth: At the birth of your child, your doctor will:

  • perform a physical examination of your baby
  • order a blood test, karyotype to confirm Down Syndrome

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Treatment Options

There is no cure for Down Syndrome, however, there is a wide variety of support and educational programs that can help both individuals and their families.

In the United States, NDSS is just one place to look for programs nationwide.

Most of the available programs start with interventions in infancy.

Federal law requires that state ofter therapy program for qualifying families.

In these programs, special education teachers, and therapists will help your child to learn:

  • sensory skills
  • social skins
  • self-help skills
  • motor skins
  • language and cognitive skills

Children with Down Syndrome often meet age-related milestones, however, they may learn slowly than other children.

School is a crucial part of the life of your child even with Down Syndrome, regardless of their intellectual ability.

Both public and private schools support children with Down Syndrome and their families with integrated classrooms and special education opportunities.

Moreover, schooling allows valuable socialization and helps students with Down Syndrome with important life skills.

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Living with Down Syndrome

The lifespan of people with Down syndrome has improved significantly in recent years.

In 1960, a child with Down Syndrome often did not see their 10th birthday. However, today the life expectancy has reached an average of 50 to 60 years of age.

If you are raising a child with Down syndrome, you will need a close relationship with a medical professional who understands the unique challenges that come with this condition.

In addition to larger concerns or health problems, like heart defects and leukemia, individuals with Down Syndrome may also need to be guarded against common infections like cold.

Individuals with Down syndrome are living longer and fuller lives today more than ever, though they can often experience a unique set of challenges. They can also overcome those obstacles and thrive for a good life.

Building a strong support network of experienced professionals and understanding family and friends is important for the success of a child with Down Syndrome and their families.

Thus, make sure to work closely with your doctor to make sure that your child has a safe and better future.

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