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Here is a simplified version of What is Down Syndrome in just one minute.
What is Down Syndrome?
Down Syndrome is the name given to a genetic abnormality in which a person has a triplicate of the 21st chromosome. Trisomy 21 is another name for Down Syndrome. Down Syndrome was first identified by the English Physician, John Langdon Down in 1866.
Down Syndrome occurs when a person receives an extra chromosome at conception. This happens in approximately 1 in 700 pregnancies in the United States. Down Syndrome is also the most common genetic anomaly known.
How Does Down Syndrome Happen?
People usually receive 23 chromosome pairs from their mom and 23 chromosome pairs from their dad.
Sometimes there is an error in cell division and when the chromosomes are doing their thing, one parent shares a bit too much genetic material and there you go, baby, gets a little extra chromosomal piece or strand. Nothing can prevent this. Down Syndrome is not as a result of the parent’s lifestyle, drug use, diet, or any other factors that the parents can control.
Trisomy 21, the most common form of Down Syndrome, is completely random. This anomaly can happen to anyone of any race, any age, any background, and in any geographic location.
Trisomy 21, Down Syndrome, can happen for first time moms, it can happen to young moms, and it has a higher statistical chance of happening to older moms.
There are 3 types of Down Syndrome:
- Trisomy 21: All copies of the 21st chromosome are in triplicate (95% of cases)
- Mosaic Down Syndrome: Only some of the person’s 21st set of chromosomes are in triplicate and others are completely unaffected These cases have a tendency to exhibit fewer of the physical characteristics of Down Syndrome and often it can be difficult to tell, at first glance, that they have Down Syndrome. (1-2% of cases)
- Translocation: Extra genetic material is attached to the 21st chromosome but it may not be a full and separate chromosomal piece, it is kind of like a small hitchiker. This type can be hereditary but is the only type that is.
Down Syndrome is NOT a spectrum disorder, you either have extra genetic material on the 21st chromosome, or you do not.
The ABILITIES of those with Down Syndrome ARE on a wide spectrum and can be greatly improved with Early Intervention.
Children born with soft markers (physical characteristics) for Down Syndrome will have a blood test to confirm the extra genetic material.
My Baby has Down Syndrome, now what?
Congratulations, first of all, you are having a baby and that my friend, is awesome. Down Syndrome is not scary, there are so many opportunities right now and perceptions are changing. The world is becoming a better place for families and individuals with Down Syndrome.
A few things that you should know. Babies born with Down Syndrome will have a number of screens performed at birth, or shortly thereafter. The life expectancy of someone born with Down Syndrome now is much the same as anyone else born. Often individuals with Trisomy 21, Down Syndrome, will live well past 60 years ….or more. Much is based on lifestyle choices and self care, like any of us.
Children who have Down Syndrome are more likely to have heart issues (40-60%). Some of these heart issues can lead to a need for surgery, the good news is, so many children born today thrive after their heart defects are medically repaired.
Children born with Down Syndrome should be screened for Heart Defects, Hearing difficulties, Vision problems, and sometimes other tests as deemed necessary by a Pediatrician.
When a child has Down Syndrome they are also at increased risk of infection due to a lowered immune system, this does not mean that you need to keep children with Down Syndrome in a bubble, but they do need to be monitored closely when they contract a virus or respiratory infection.
Having a child with Down Syndrome is a joy and children with Down Syndrome can learn to do all the things that typical children do.
Children with Down syndrome can learn to walk, talk, sign, read, write, and perform basic math skills. Some children with Down Syndrome will have the ability to go to college and live independently.
What about the heart?
Down Syndrome is an anomaly that carries with it the increased risk of heart defects. The heart defects commonly associated with Down Syndrome are:
ASD- Atrial Septal Defect
“In this defect there is a hole between the top chambers (receiving chambers or atria). Because of the higher pressure in the left side of the heart, oxygenated blood flows through the hole from the left to the right side of the heart, and back to the lungs, in addition to the normal flow.
There are three types of Atrial Septal Defect; the most common is when there is a hole in the middle of the central heart wall. Holes in the lower part of the septum, called the primum defect (partial atrioventricular septal defect), are often associated with a problem of the mitral valve that often results in a leak. Less common are sinus venosus defects or holes in the top of the septum. These are associated with an abnormality of the right upper lung vein.” -Congenital Heart Disease in Children with Down Syndrome. (n.d.). Retrieved May 13, 2017, from http://downsyndrome.nacd.org/heart_disease.php
VSD- Ventricular Septal Defect
“In this defect there is a hole between the bottom chambers (pumping chambers or ventricles). Because of the higher pressure in the left side of the heart, this allows oxygenated blood to flow through the hole from the left to the right side of the heart, and back to the lungs, in addition to the normal flow.” Congenital Heart Disease in Children with Down Syndrome. (n.d.). Retrieved May 13, 2017, from http://downsyndrome.nacd.org/heart_disease.php
PDA- Patent Ductus Artetiosis
“This defect is the continuance of a direct connection between the aorta and the lung (pulmonary) artery, which normally closes shortly after birth.” Congenital Heart Disease in Children with Down Syndrome. (n.d.). Retrieved May 13, 2017, from http://downsyndrome.nacd.org/heart_disease.php
Tetralogy of Fallot
“This anomaly includes four different heart problems:
- a hole between the top chambers and a hole between the bottom chambers
- combined mitral and tricuspid valves (common atrioventricular valve)
- narrowed pulmonary artery (from heart to lungs) or the area under or above the valve, or all three
- thickening of the right bottom chamber (ventricle)” Congenital Heart Disease in Children with Down Syndrome. (n.d.). Retrieved May 13, 2017, from http://downsyndrome.nacd.org/heart_disease.php
Are there other health issues?
Children born with Down Syndrome do have a higher incidence of risk for other health issues that may not be as common in the general public. It does not mean that each child born with Down Syndrome will experience all, or even any of these health problems, but there is a higher incidence in the Down Syndrome population so they are monitored more closely. There is something about that extra genetic material that makes these children susceptible to health problems. A few of these can be:
Hypothyroidism– a condition in which the thyroid is doing its job and producing enough of the thyroid hormone. This can result in complications with weight gain, constipation, feeding issues and can manifest itself in other ways as well. This is a treatable condition and is often tested for in infants with confirmed Trisomy 21.
Leukemia- Children born with Down Syndrome have a 10-15% higher risk of developing the blood disorder, leukemia (white blood cell cancer).
Cervical Malformation– In approximately 10-20% of children with Down Syndrome there can be a slight malformation in the upper part of the spine which may not cause any issues unless surgery is needed or contact sports are engaged in. It is something that children should be checked for.
Hypotonia– This is the hallmark of Down Syndrome. One of the first signs that a practitioner looks for at birth is hypotonia, a fancy word for poor muscle tone. At birth often children with Down Syndrome have a “floppy” tone and will exhibit a lack of definition. This means that the babies are fantastic snugglers but also contributes to the delays in gross and fine motor skills that are associated with Down Syndrome.
It is important for parents to find a pediatrician who is very familiar with Down Syndrome, or find a children’s hospital which has a Down Syndrome clinic so that the child with this condition can receive the most astute care possible. Some children with Down Syndrome have many health complications, other children have very few.
What Else Do I Need to Know?
There are many supports and sources of information from the national level to the state level, here are just a few:
NDSS– National Down Syndrome Society
DSDN– Down Syndrome Diagnosis Network
NADS– National Association for Down Syndrome
You also will likely find a local chapter of organized families by doing a google search using your county, state, and “Down Syndrome group”
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