Down Syndrome

everything you need to know

What is Down Syndrome?

Down Syndrome is a disorder that arises from a chromosome defect. It is associated with a characteristic facial appearance, intellectual disability, and weak muscle tone in infancy. They are also at an increased risk of medical conditions such as gastroesophageal reflux, celiac disease, heart defects and more. Children with down syndrome usually have behavioral problems and delayed development. 1 in 80 newborns are born with this condition and the chance of having a child with this condition increases as the woman gets older.

How is it Inherited?

For the most part, cases of down syndrome are not inherited. The condition is caused by trisomy 21 which is a chromosomal abnormality that usually occurs in egg cells and occasionally in sperm cells. This error is a random event. But, people with translocation down syndrome do have the ability to inherit the condition from an unaffected parent. If a translocation is passed on to the next generation, it can become unbalanced , therefor causing extra genetic material from chromosome 21 which will cause Down Syndrome.

What are the symptoms/features?

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Features

-Small head and ears

-Flat facial features

-Shorts neck

-Eyes that slant upward

-Bulging tongue

-Oddly shaped ears

-Poor muscle tone


Behavior

-Impulsive behavior

-Poor judgment

-Short attention span

-Slow learning capabilities


Medical

-Sleep apnea

-Hip problems

-Hearing loss

-Congenital heart defects

-Dementia

-Chronic constipation

-Hypothyroidism

-Cataracts

-Late tooth growth

and more..

Treatments?

There is no set treatment for down syndrome, but individuals with the disorder may receive care from a variety of health professionals such as speech therapists, special educators, physicians, socials workers, physical therapists, and/or occupational therapists. Since people with down syndrome are often born with a large amount of health issues, they may need treatment right at birth, throughout their childhood, or long term-treatments throughout life.

Who Should Be Tested & How?

A woman at the age of 35+ must be tested. The tests that should be done include a screening test and diagnostic test. The diagnostic test is a must, because it gives a definite answer as to if the child will or will not have down syndrome.


In the screening test, the doctor will take a blood test which will be testing for two proteins: Human Chorionic Gonadotrophin(hCG) & pregnancy associated plasma protein. They will also conduct a nuchal translucency(NT) scan, which is an ultrasound that measures the size of a fold behind the baby's neck.


In the diagnostic test, they will conduct an amniocentesis take a sample of the amniotic fluid surrounding the fetus. They will also do a chorionic villus sampling(CVS), in which cells are taken from the placenta and used to analyze the fetal chromosomes. the final test would be the cordocentesis, in which fetal blood is taken from the umbilical cord and examined for chromosomal defects.


We do not want this disorder to spread any longer, so if you discover that you will be having a child with down syndrome, you should not try to have another child.

Organizations?

There are four national down syndrome organizations in the U.S.


-National Down Syndrome Society: NDSS

The mission of NDSS is to be the national advocate for the value, acceptance, and inclusion of people with down syndrome


- Global Down Syndrome Foundation

"Dedicated to significantly improving the lives of people with down syndrome through research, medical care, education, and advocacy."


-National Down Syndrome Congress: NDSC

Formed in 1973 and works to ensure that people with down syndrome get equal rights and opportunity.


-Down Syndrome Affiliates In Action: DSAIA

national trade association made up of 70 affiliates, most of which are local down syndrome organizations from across the U.S.