Down Syndrome in Children | What You Need to Know

I remember coming across an Instagram account @nothingdownaboutit several years ago which caught my attention.

Oakley Peterson, the mother of three beautiful children, created an amazing page celebrating ‘Up Syndrome’ since 2013 featuring her son, Welles, who has Down Syndrome. She is a leader in the disability community and I think it is wonderful how she is spreading awareness and creating positive change. Her inspiration is contagious and is one of the main reasons I’m writing this post.

My intention throughout this post is to provide you the most helpful information and resources about Down Syndrome in children.

This type of disorder impacts a child’s motor functions causing delays.

Now let’s get started on what you need to know about Down Syndrome; the various types, causes, diagnosis, early intervention therapies and more.

What is Down Syndrome?

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Down Syndrome is a genetic disorder where the child has an extra chromosome in their body.

Specifically, it is a common birth defect that is caused by having extra gene material, specifically chromosome 21. To breakdown the definition of both, chromosomes are groups of genes in the body and chromosome 21 is the tiniest gene, spanning about 48 million base pairs (the building blocks of DNA) and representing 1.5 to 2 percent of the total DNA in cells.

In a nutshell, this type of genetic disorder is when there is an extra copy of chromosome 21 (also referred to as trisomy-21).

Types & Causes

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The majority of the time, Down Syndrome is caused by the extra chromosome 21 (trisomy-21) which occurs from abnormal cell replication during the development of the egg or sperm cell.

In very rare cases, the genetic disorder can be caused by other genetic abnormalities which I’m going to cover now so let’s breakdown the three types of Down Syndrome:

#1. Trisomy 21. This is the most common type of Down Syndrome about 95% of the time. This is when there are three copies of chromosome 21, instead of the two normal copies found in the cells of the body.

#2. Mosaic Down Syndrome. This is a very type of Down Syndrome and occurs when the child has a mixture of abnormal cells; some have two copies of chromosome 21 and some have three.

#3. Translocation Down syndrome. This is also a very rare type of Down Syndrome and occurs when part of chromosome 21 becomes attached (or translocated) onto another chromosome. These children will have two copies of chromosome 21 which also is attached onto another chromosome.

At this time, there is no proven evidence showing Down Syndrome is caused by behavioral or environmental factors.

Development

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Due to the extra genetic material, it will cause changes in the child’s development and physical features.

When a child has down syndrome, you will notice a distinct facial appearance such as:

• Flattened facial profile and nose
• Head, ears, and mouth may appear smaller
• Upward slanted eyes
• Tiny white spots on the iris (colored part of the eye)
• Smaller hands and feet
• Shorter neck
• Tongue may slightly stick out of the mouth
• Low muscle tone (also known as Hypotonia)

Delays & Abilities

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With Down Syndrome, a child will have some type of degree of intellectual or developmental delays such as:

• Difficulty with one’s memory, thinking, and concentration
• Short attention span
• Impulsive behavior
• Slower learning skills
• Delayed language and speech development

The majority of children with Down Syndrome will learn to meet developmental milestones such as walking, talking, dressing, and going to the restroom. Others may need assistance with this.

However, what is important is that each child has their own abilities and the talent to thrive.

Diagnosis

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There are two types of tests that can be done to see if a child has a greater chance of Down Syndrome during pregnancy.

#1. Screening test. When this test is performed it can show if the baby is at an increased risk of Down Syndrome or other conditions. It basically let’s the woman know if her pregnancy is low or higher risk.

As this test does NOT provide an absolute diagnosis, it is a safer test to perform for the mother and baby and can determine if the fetus is affected. This non-invasive test is given during the first 10-14 weeks of pregnancy during the first trimester.

#2. Diagnostic test. This type of test has a greater chance of detecting if a woman’s baby will have Down Syndrome, but the test is more risky for the mother and baby. Under ultrasound guidance, cells are taken from the placenta and used to analyze the chromosomes.

This test is normally done between 10-13 weeks of pregnancy during the first trimester.

Early Intervention Therapies

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Down Syndrome is a life long condition.

Therapy treatment early in life can greatly improve a child’s physical and intellectual abilities. The main goal during any type of therapy is to allow a child the opportunity to develop their full potential.

Different therapies a child with Down Syndrome have may include:

• Occupational therapy. Activities of Daily Living (ADL) is exactly what occupational therapy focuses on, teaching a child to live an independent lifestyle. A child will be taught how to dress, go to the restroom, brush their teeth, play and go to school among a few of the many activities they can learn. The therapist will work on strengthening muscle and joint coordination which can make life difficult to perform everyday tasks if a child is challenged in this area.

==> Click here for one of the BEST tools to use if your child has mobility issues in their hands and arms <==

• Speech and Language therapy. When a child needs help effectively communicating their thoughts and feelings that’s when a speech and language therapist will step in. With the therapist, the child will work on their speech or talking to pronounce words, sounds, numbers, and gestures. This type of therapy focuses on improving the functioning and muscles in the mouth to the throat area. Swallowing and breathing properly can also be an issue for some children so the speech and language therapist will also work on improving these functions as well through mouth exercises.
• Behavioral Therapy. This type of therapy will help a child with Down Syndrome manage the emotional challenges that may accompany the condition by focusing on improving social skills, academic problems, and attention issues. A child may be impacted intellectually which can make it difficult for them to respond in social situations. The behavioral health therapist will focus on the problem areas to help them make a positive progression in their life.
• Physical therapy (PT). Helps a child gain muscle, strength, and enhance their movement skills such as balance and coordination. PT strives for a child to gain confidence and independence to be able to perform daily activities on their own.

==> Click here for an engaging activity recommended by therapists to stimulate your child’s motor skills <==

Helpful Resources

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#1.  The Individuals with Disabilities Education Act (IDEA) requires families to receive early intervention services for their child at no cost if your child is eligible. Each state offers early intervention programs for a child with Down Syndrome. Not all services are free, it depends on the state you live in. Click here to view the early intervention contact information within your state.

#2.  Are you unsure about to do next or where your child’s journey will take you?  ‘The Parent’s Guide to Down Syndrome: Advice, Information, Inspiration, and Support for Raising Your Child from Diagnosis through Adulthood’ is an incredible book for parents or those connected to a child diagnosed with Down Syndrome.  It is currently rated 5 out of 5 stars on Amazon.

==> Click the image below for the BEST current price <==

#3.  I came across this book ‘What’s Inside You Is Inside Me, Too’ which is wonderful read for siblings who have a brother or sister who has Down Syndrome.  It’s a great family activity to do together to inform your children about the condition in a fun and visual way.  It is also currently rated 5 out of 5 stars on Amazon.

==> Click the image below for the BEST current price <==

#4.  If there are any sensory items or tools you need tailored to your child’s unique abilities, checkout Fun and Function (by clicking the image below).  Their website is wonderful because it is specifically tailored to children with disabilities.  They have pretty much anything and everything you’d need to enhance your child’s development as well as fun activities and toys.

Also, another reason I recommend Fun and Function to parents or those connected to children with disabilities, is it’s an amazing ‘go to’ site as therapists are also involved in choosing the products offered.

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