Down Syndrome Meaning, Symptoms & More

As per the CDC (the Centers for Disease Control and Prevention), near about 700 babies are born with Down syndrome in the USA. Infants with this condition may be an average size. But they usually grow slowly and remain shorter in height in comparison to other kids of the same age. 

In the past 20 years, the life span of these children has hiked radically, and now they tend to have healthier and happier lives. Thanks to cutting-edge innovation in medical care and therapies.

Doctors usually use screening tests during pregnancy to estimate the probability that a kid will have Down syndrome. On average, a baby with this condition will:

-Walk at 26 months
-Crawl at 17 months
-Sit at 11 months

If your baby has this syndrome, it means he will require extra attention. Infants with this condition are usually at high risk of developing other health issues, and this makes caring for newborns tough. Also, many kids can attend school and become an active members of the community.

What is Down Syndrome? | Down Syndrome Meaning

Our bodies are made of millions of cells and in every cell, there are 46 chromosomes. Down syndrome is a genetic disorder in which there is a partial or full chromosome 21. 

This usually happens due to an error during cell division when the sperm and egg first meet. It means that a person with this condition has 47 chromosomes instead of 46.

The effects of this additional genetic material differ from person to person. But it hinders normal physical and mental development in infants. 

Down Syndrome Symptoms in Babies

• Flattened face (mainly the bridge of the nose)
• -Weak muscle tone (hypotonia)
• -Enlarged tongue
• -Narrow ear canals
• -Small head
• -Short neck
• -Upward slanting eyelids (palpebral fissures)
• -Short and broad hands with a single crease in the palm
• -Extra flexibility (tiny pinkish fingers that sometimes bend towards the thumb)
• -Short hands, fingers, and feet
• -Small white spots on the iris
• -Short height
• -Cognitive impairment
• -Impulsive behavior

Types of Down Syndrome

The 3 types of down syndrome include:

Trisomy 21

It’s the most common chromosomal anomaly that affects 5,000 babies every year. This usually happens before or at conception time.

Mosaic Down Syndrome or Mosaicism

It’s a rare form of Down syndrome. People with this condition have a mixture of cells. Some have 2 copies of chromosome 21, and some have 3. This leads to fewer or less severe signs.

Translocation Down Syndrome

It accounts for 3% of Down syndrome cases. In this case, the baby is born with 46 chromosomes but has a copy of chromosome 21 that links to another chromosome within the cell.

Is Down Syndrome Inherited from Parents?

There is no scientific research that proves that Down syndrome is caused by the activities of parents or during pregnancy. This condition usually affects people of all economic classes and races.

Although it’s a genetic condition, it’s not passed down by family members. Near about one-third of the cases can be traced back to the family past.

Can Mother Age Be a Risk Factor?

The causes of Down syndrome are still unclear. The copy of chromosome 21 can come from the father or mother. However, the major risk factor is the age of the mother. As the lady tends to get older, she is at high risk of having a baby with Down syndrome.

It means that if the age of parents is high, there are greater caches. After 35, the risk gets much higher. But still, 80% of babies with this condition are born to ladies who are younger than 35. 

Things to Note:

If you are planning to have more kids, it’s best idea to talk with your doctor. This will help you know whether you should look for genetic counseling or not.

Feelings of grief, anger, disappointment, frustration, fear, and anxiety are common. Thus, you can talk to your family doctor, other parent having a baby with the same condition, or join a support group.

How to Care for a Newborn with Down Syndrome?

Having a baby with Down syndrome can be devastating. It has no cure or prevention measures. People with this condition can opt for motor or speech therapy, but this does not treat it.

They are the same as other kids. It means that they tend to have the same emotions and moods. So, let’s check out some tips.

Sleeping

When children with Down syndrome sleep, the tongue may fall into the back of the throat. This can result in obstructive sleep apnea (a condition that causes a person to stop breathing for a short time). For sleep apnea treatment options, read this post.

Approximately 45% of children with Down syndrome face OSA. So make sure you spot the signs like restless sleep, daytime drowsiness, gasping noise, snoring, and frequent night awakenings. So it’s advised for all parents to have a baseline sleep study of their infant by the age of 4.

Reaching Developmental Milestones

This condition affects an infant’s ability to learn in different ways. Most of the kids have a moderate intellectual impairment. Just note that the first few years of life are essential for the future development of the child.

So, make sure you understand your child well. Play with him or her so that your little one gets surrounded by a positive environment. Also, every baby is different. As he or she grows, you need to pay extra attention to his intellectual or physical development. Not every kid who Down syndrome faces the same health issues.

As per the Individuals with Disabilities Education Act, all babies with Down syndrome are eligible for free-of-cost early intervention services. This includes:

-Speech and Language Therapy (this helps your infant to develop facial muscles for feeding, speech, and swallowing food. This also makes your child learn how to communicate well).
-Physical therapy (this helps your child to gain muscle tone for seamless walking and crawling).
-Occupational therapy (this helps in improving coordination and motor skills).
-Psychology and special education (this helps your kid with behavioral and social issues).
-Academic skills (for easy counting and reading).

These therapies help your infant reach the same milestones as their peers, but this will occur at a slow speed. That’s why pay close attention to the sequence in which your child accomplishes milestones.

Also, the earlier your child starts receiving therapy, the better she or he will develop and become successful in life. You can join community resources, support groups, and organizations for better solutions and tips. This advice will surely help you to cope with this syndrome well.

Manage the Health of Your Baby

Kids with Down syndrome usually have a team of skilled specialists to address mental and physical problems related to this disorder. This includes neurologists, cardiologists, and speech and physical therapists.

Effects of Down Syndrome | Risks of Down Syndrome

Newborns with Down syndrome tend to have other health complications that may need tons of visits to pediatric health-care providers.

Common risks include:

Heart Defects

About 50% of infants with Down syndrome have heart issues. Some of the conditions can be identified prenatally at the time of ultrasounds.

Few heart issues will need surgery within the first year, and other problems get fixed with time. Even if your little one looks fine, he will still have to undergo an echocardiogram during the first three months.

Hearing Loss

Babies with this condition are prone to ear infections too. So make sure you have hearing screenings every six months. It starts from birth and continues until the age of three. This will ensure that your little one hearing, speech, and development do not get impaired.

Feeding Issues

Your baby may take some time to learn to breastfeed or to suck a bottle. However, breastfeeding is good for all babies with Down syndrome. It’s best to seek assistance from a feeding therapist or another mother who has a baby with this condition.

Eye Issues

More than half of the people with Down syndrome face eye problems. But in newborns, these issues can range from mild (blocked tear ducts) to severe (cataracts).

Even if your child has no vision issues, it’s advised you take him or her to a skilled pediatric ophthalmologist every one to two years.

Gastrointestinal Issues

Between 2 and 15% of infants with Down syndrome have Hirschsprung disorder. It’s an intestinal nerve condition that makes it hard to expel stools.

Your little one may also have the risk of developing small intestinal issues. This may lead to frequent choking during feedings, severe vomiting, and a close anal opening. You might need to have surgery to treat these health conditions.

Malfunctioning in Thyroid

Near about 10% of infants with Down syndrome face thyroid issues. It means that the thyroid gland does not function properly in these kids. So ensure that you have a screening for hypothyroidism at its birth and every two years.

These health conditions may seem scary but are treatable. Just note that children with this chromosomal condition are more prone to injections like respiratory infections, urinary tract infections, and skin infections. So, it’s good to consult the doctor immediately.

Risk of Down Syndrome by Age

-Hip issues like dislocations.
-Leukemia.
–Dementia.
-Obesity.
-Sleep apnea.
-Late tooth development.

• Alzheimer’s disease (later in life)

Thyroid issues and leukemia could be a major cause of concern. Also, as a kid with Down syndrome ages, he needs to be aware of the risk of developing Alzheimer’s disease. Near about half of children will show signs of dementia when they enter their 50’s or 60’s.