What Is Down Syndrome?

Down syndrome is a condition in which a person is born with an extra copy of chromosome 21. The condition was discovered in the late nineteenth century by Langdon Down, an English physician, who first published an accurate description of a person with Down syndrome.

Although characteristics of the condition were previously recognized, it was Down who distinguished this condition from others and paved the path to new discoveries.

To this day, Down syndrome remains the most common chromosomal condition in the United States, with about 6,000 reported cases each year. Although it is known that an extra chromosome causes Down syndrome, why this occurs is still unknown.

Types of Down Syndrome

There are three different types of Down syndrome, including:

Trisomy 21
Translocation Down syndrome
Mosaic Down syndrome

Trisomy 21 is the most common type of Down syndrome, accounting for about 95% of cases. In this type, each cell in the body has three copies of chromosome 21 as opposed to the typical two copies.

Translocation Down syndrome accounts for about 3% of cases and occurs when either an extra part or a whole extra chromosome 21 is present. Still, it is attached or “translated” to a different chromosome rather than standing alone as a separate chromosome 21.

Mosaic Down syndrome is the rarest of the three and accounts for about 2% of cases. As its name implies, Mosaic Down syndrome is when some of a person’s cells have three copies of chromosome 21 while others have two. Individuals with Mosaic Down syndrome may display features similar to those seen in other types of Down syndrome, though these traits can be less pronounced because many of their cells have the typical number of chromosomes.

Recognizing the Signs of Down Syndrome

Down syndrome manifests differently in each individual. Some may experience mild or severe health issues, while others may be in good health. Although symptoms vary for each person, some of the most common features are:

Flattened face, especially the bridge of the nose

Small head
Short neck
Small ears
Protruding tongue
Upward slanting eyelids
Poor muscle tone or loose joints
Small hands and feet
A single line across the palm of the hand
Short height as a child and as an adult

Diagnosis and Testing for Down Syndrome

Because these features can sometimes appear in babies without Down syndrome, a chromosomal test called a karyotype is performed to confirm the diagnosis. During this test, a doctor collects a blood sample to examine the baby’s cells. A photograph of the chromosomes is taken, and they are arranged by size, number, and shape.

The doctor is then able to examine the karyotype to determine a diagnosis. As an alternative, the genetic test Fluorescence in situ hybridization (FISH) can also confirm a diagnosis more quickly. This test allows researchers to visualize and map a person’s genetic material, including specific genes or gene regions.

Supporting Children with Down Syndrome at Home

Families caring for a loved one with Down syndrome often benefit from structured home care programs that support both the caregiver and the individual’s unique needs.

In Colorado, programs such as Parent CNA and IHSS (In-Home Supportive Services) support parents and family members in taking an active role in caregiving. These services create a supportive environment for children and enable families to stay together at home while delivering professional-level care.

The Best IHSS Provider

Voyager Home Health Care is known for being the highest-paying IHSS & CHCBS provider in Colorado. Voyager is also known for their superb quality and the cutting-edge support of the families it serves.

At Voyager, we pay $18 an hour for any Health Maintenance Activities (HMA) hours families are approved for ($20/hr for CHCBS).

If you want to know more about this program, please give us a call or Text (719-401-5727).

Highest Paying Provider ● Highest Quality ● All Phones Text-able ● Overtime allowed with hybrid hours ● Smart Documentation ● Home Healthcare Company with Class A License.

What Is Down Syndrome?

Types of Down Syndrome

Recognizing the Signs of Down Syndrome

Diagnosis and Testing for Down Syndrome

Supporting Children with Down Syndrome at Home

The Best IHSS Provider

Voyager Home Health Care is known for being the highest paying IHSS & CHCBS provider in Colorado.

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