Clinical Manifestations of Down Syndrome Series: Head

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Features of the Head As Seen in Down Syndrome

There are certain features of the head that are seen in people that have Down Syndrome. These features vary in people with Down Syndrome. Some people with Down Syndrome will have all of these features and some will have a few of these features.

Having these features does not mean that someone has Down Syndrome. These features can be present in other medical conditions that are not related to Down Syndrome.

However, if a medical professional sees these features in combination, they may suspect a diagnosis of Down Syndrome.

The objective of this series is to bring awareness that many of the features seen in Down Syndrome, are also seen in individuals without Down Syndrome. These features on their own or as a whole do not define individuals who have them, irrespective of whether you have Down Syndrome or not. What makes these features significant is that they are different from the general population, that’s all. How individuals are treated with these features are more of a perspective problem of society than an individual problem.

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Clinical Manifestations of Down Syndrome Series: Introduction

Citation of picture in a textbook showing text "Down Syndrome".
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If one was to conduct an internet search to find out what are the clinical manifestations of Down Syndrome, it would turn up many sites describing the physical features of Down Syndrome. Typically, you would see the features that are characteristic of a diagnosis of Down Syndrome.

People assume that just because a person is physically different than the typical or normal person, that the difference seen, is abnormal in nature. Further, that this abnormal feature in nature must be incompatible with life or cause difficulty in life. So much so, that when individuals hear that their child has a diagnosis of Down Syndrome, little thought is given to what does that difference actually mean because people are still grasping with the diagnosis itself.

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Pathophysiology of Down Syndrome

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What is Trisomy 21?

Trisomy 21 is when there are three copies of the 21st chromosome instead of the expected two. This results in what is commonly known as Down Syndrome. The terminology of Trisomy 21 and Down Syndrome is commonly used interchangeably however in a biological context, there is a difference. Trisomy 21 occurs at the level of cell division where the expected cellular replication processes results in an unexpected amount of chromosomes and the process of this occurrence is called nondisjunction.

There are three types of trisomies that results in Down Syndrome. They are: Trisomy 21 or free trisomy, Mosaicism, and Translocation or Robertsonian translocation. The processes of each of these types of Trisomy originate differently. Some trisomies originate from the egg, sperm or zygote. To have a full understanding of how this occurs, requires a review of Grade 10 biology (for our purposes, we will cover the basics and not go into extreme detail of cellular replication and embryotic development, doing so would be to explain major concepts presented in biology 101). Continue reading “Pathophysiology of Down Syndrome”

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What Causes Down Syndrome?

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Trying to find cause or fault is futile. It halts the process of reclaiming joy

Finding out that your baby has Down Syndrome is wholly unexpected and coming to terms with this new information is an emotional process.  You may have come across this page if you are looking for a cause, a reason, feel guilt or even blame yourself or someone else, that your baby has Down Syndrome. Trying to seek out answers to who, what, why or how your baby has Down Syndrome, is a futile search that will lead to more questions than answers. The truth is, is that science has no answers and no way to detect how your baby came to have Down Syndrome. Science only has possible reasons and whether these possible reasons apply to you, science does not even know. One needs to move on from fact-finding and information gathering to what is most important.

It is most important to know that:  It is not your fault your baby has Down Syndrome. It is not anyone’s fault… and I will tell you why.

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Trisomy 21 versus Down Syndrome

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Trisomy 21 versus Down Syndrome

 

Picture of the title

 

Trisomy 21 and Down Syndrome are commonly used interchangeably however, there is a  difference in what they mean. Trisomy 21 refers to an extra copy of chromosome 21. This means instead of having two chromosomes that are the same, there are three. Trisomy 21 is a type of aneuploidy, there are other types of aneuploidy. Aneuploidy literally means not the normal amount of sets of chromosomes (an-not normal, eu-normal, ploidy-sets of chromosomes). Continue reading “Trisomy 21 versus Down Syndrome”

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An Introduction To Down Syndrome

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Down Syndrome Sphere of Influence by SWH

An Introduction

What is Down Syndrome?

As simple as this question may sound, there is so much information about Down Syndrome that it cannot be answered in a few sentences. This is because Down Syndrome is part of many spheres of influence.

All human beings are a part of many spheres of influence and Down Syndrome is no different. Moreso, humans have many domains of health such as biological, physical, cognitive, mental, behavioral, intellectual, social, etcetera. How and where each individual is, is independent, as a result of their uniqueness. How they interact with the greater whole, is dependent on their ability and how others perceive their contribution of those abilities. This is the definition of society; the individual as a whole and how many different wholes make up the greater whole. Not to be confused with the analogy of a puzzle, because puzzles are pieces and each individual is a set of puzzle pieces and not one piece alone.

The center is made up of the self. Outside of the self are many influences and levels of society where interactions influence one another’s’ life experiences. With this ideology, to answer “What is Down Syndrome?”, I will begin first with the individual, move on to family, and then to the various levels of influence that make up society.

It is my endeavor to answer “What is Down Syndrome?” in a way that will show that Down Syndrome is more than just a medical term, it is representative of a truly awesome rainbow of people, instead. After all, a rainbow would be very dull if all the colors were all the same.

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