Down Syndrome: Causes, Symptoms, and Treatments

What is Down Syndrome?

 

Down syndrome is a condition caused by a chromosomal anomaly. Babies inherit 23 chromosomes from each of their parents. However, a child with Down syndrome will have three chromosomes at the 21st pairing. This is why Down syndrome is also referred to as Trisomy 21.

 

Types of Down Syndrome

 

There are currently three categories of Down syndrome:

• Trisomy 21 Down Syndrome

• Translocation Down Syndrome

• Mosaic Down Syndrome

 

Trisomy 21 Down Syndrome

 

Trisomy 21 is the most common type of Down syndrome. Trisomy 21 refers to an extra, partial, or full chromosome present at the 21st pair. The 21st chromosome affects both the brain and physical development of a child with Down syndrome, and they may develop at a different rate than their peers. However, a child with Down Syndrome can and will still develop, grow, and learn throughout their life. Providing proper support, especially during their earliest years, will help a person with Down syndrome live a very fulfilling and happy life.

 

Translocation Down Syndrome

 

Translocation Down syndrome occurs when a third copy of the 21st chromosome materializes and is displaced to a different chromosome.

 

Mosaic Down Syndrome

 

Mosaic Down syndrome occurs when not all cells of a person’s makeup are affected by an extra 21st chromosome, and therefore, that person may not have as many distinct features as many people with Down syndrome. 
 

Down Syndrome Symptoms

 

Many people with Down syndrome share common characteristics that are associated with the condition, including:

• Down Syndrome Physical Features

• “Down Syndrome Hands”

• Extra Chromosome

• Down Syndrome Life Expectancy

 

Down Syndrome Physical Features

 

People with Down syndrome have many similar physical features. Some common traits include a more flattened face with a smaller nose, almond-shaped eyes, and a short neck. A child with Down syndrome may have a tongue that protrudes a little, as well as poor muscle tone. It is also very common that a person with Down syndrome will appear much shorter than their peers. 

 

“Down Syndrome Hands”

 

The “Down Syndrome Hand” refers to a particular characteristic in the palm of a child with Down syndrome. A person generally will have three lines placed across the palm of the hand, whereas a person with Down syndrome will have one long crease along the middle of the palm that runs from one side of the palm, above the thumb, to the other side, below the pinky. A person with Down syndrome will also present with a shorter, wider hand. 

 

Extra Chromosome

 

Most children are born with 46 chromosomes, 23 from the father and 23 from the mother. However, a child with Down syndrome will have an extra chromosome on the 21st pair. This extra copy may be only a partial copy or a full both will result in the cell anomaly that affects people born with Down syndrome. 

 

Down Syndrome Life Expectancy

 

The life expectancy of a person with Down syndrome continues to climb. According to the Centers for Disease Control and Prevention, a person with Down syndrome previously only had a life expectancy of around 47, whereas today, less than 20 years later, a person with Down syndrome can expect to live to around 60 years of age. Many people live far beyond that and that number will likely continue to climb.

 

Signs of Down Syndrome in Different Age Groups

 

• Signs of Down Syndrome During Pregnancy

• Signs of Down Syndrome in Newborns

• Signs of Down Syndrome in Infants

• Signs of Mild Down Syndrome in Adults

 

Signs of Down Syndrome During Pregnancy

 

Similar to ASD, there are no outward signs of Down syndrome in pregnancy. However, some tests can be done in early pregnancy that may indicate the potentiality of having a child with Down syndrome. There are blood tests and ultrasounds, and the most common test is amniocentesis, which takes fluid from the amniotic sac and can also be used to test for other genetic anomalies such as cystic fibrosis and sickle cell disease.

 

Signs of Down Syndrome in Newborns

 

Most physical symptoms of Down syndrome are present at birth. Symptoms may include poor muscle tone, almond-shaped eyes, a small flat nose, and the child’s tongue may stick out a little. Newborns will typically begin life a similar size to other newborns but will usually grow slower than other infants. When holding newborns, newborns are also likely to need more support than other newborns. Many infants with Down syndrome have atlantoaxial instability, a term used to describe the instability of the first two vertebrae in the child’s neck. Many newborns will need “early intervention,” the term used for programs specific to a child’s needs meant to be put in place in the newborn’s home environment to help them in their early development. 

 

Signs of Down Syndrome in Infants

 

Infants will have the same or similar features typically associated with a person with Down syndrome: small, flat face, almond eyes that slant upward, smaller ears, hands, and feet. Again, early intervention can help support a child in developing their strengths, and many children with Down syndrome can catch up with their peers in numerous areas of childhood development despite possible initial developmental delays. 

 

Signs of Mild Down Syndrome in Adults

 

Signs of Down syndrome for adults are similar to those of a child. A person will be shorter in stature with a shorter-than-average neck. They will also have almond-shaped eyes that slant upward. A person with Mosaic Down syndrome or a more mildly presenting form of Down syndrome might not have as distinct features.

 

Signs of Down Syndrome in Different Genders

 

Although there are slightly higher instances of males with Down syndrome than females, the signs are very similar in both men and women. 

 

Signs of Down Syndrome in Women

 

Women with Down syndrome will be shorter than the average woman; they may have smaller, shorter hands, and as they age, they may struggle more with health problems than their peers. Unlike adult men with Down syndrome, many women with Down syndrome are less likely to experience infertility. 

 

Signs of Down Syndrome in Men

 

Men with Down syndrome will also have very similar features to women and younger children with Down syndrome. However, there is a slightly higher instance of men with Down syndrome than women, and men with Down syndrome will typically experience infertility. However, there have been instances of men with Down syndrome fathering children. 

 

Down Syndrome Causes

 

Down syndrome is known to be caused by an extra chromosome 21. Researchers are not clear on why Down syndrome occurs. There are many different factors that seem to increase the risk of having a child with Down syndrome. One factor that is most commonly associated with risk is maternal age. Women who are 35 years of age or older are at a higher risk of having a child with Down syndrome. Although, statistically, the majority of children with Down syndrome are born to women under 35. Other factors include being a carrier of the genetic translocation for Down syndrome and already having a child with Down syndrome.

 

Down Syndrome - Is It Genetic?

 

Down syndrome is a genetic condition, but only 1% of Down syndrome cases are hereditary. 

 

Down Syndrome Extra Chromosome

 

Down syndrome is caused by having an extra 21st Chromosome. Also referred to as Trisomy 21 and is the most common chromosomal irregularity. 

 

Down Syndrome Inheritance

 

There is a very small instance of Down syndrome being hereditary. Only about 1% of cases of Down syndrome appear to be hereditary. 

 

Down Syndrome Diagnosis After Birth

 

After birth, a baby is given an exam, and your doctor will look for physical symptoms of Down Syndrome. Early detection of any childhood conditions can allow your child to receive proper support to help them develop their strengths early on.
 

Risk of Down Syndrome

 

Risk for Down syndrome is most commonly associated with advanced maternal age, or having a child over the age of 35. However, many women over the age of 35 have completely typical pregnancies. There is also a higher likelihood of having a child with Down syndrome if you have already given birth to a child with Down syndrome.
 

Down Syndrome Treatment Options

 

Children and adults with Down syndrome often have other medical complications that should be followed by your doctor. Medical conditions, such as heart defects, thyroid conditions, and hearing and vision issues, should be treated as medically necessary. Treatments to strengthen muscle, coordination, and language skills may be worked on with related therapies recommended by your doctor. Setting your child up with early intervention as soon as possible is also a great way to ensure success. 

 

Down Syndrome Therapies

 

Therapies for Down syndrome typically include speech and language, physical therapy, occupational therapy, as well as art and music therapy. Therapies can do wonders to increase language development, strengthen loose muscles to support weaker joints and address fine motor difficulties.

 

Down Syndrome Medical Devices

 

Some people with Down syndrome will have additional concerns and may require medical devices to assist with hearing amplification, sleep apnea devices, and cardiac devices. Medical devices should be discussed with your doctor and will differ depending on each individual’s condition.

 

Free Down Syndrome Resources: Exceptional Needs Today

 

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