Signs, Symptoms and Different Types

It's been a couple of weeks since I last posted so I've decided to post two topics. These two being signs and symptoms and the different types of Down Syndrome. 

Signs and Symptoms

Symptoms of Down Syndrome are both physical, intellectual and medical. Typically people with Down Syndrome have slower mental and physical development. The picture below shows features that people with Downs most commonly have.

People with Downs also suffer from various medical conditions that decrease their quality and span of life. These conditions include:

• Congenital heart disease
• Hearing problems
• Intestinal problems
• Celiac disease
• Eye problems
• Thyroid dysfunctions
• Skeletal problems
• Dementia

Different Types of Down Syndrome

Type 1 - Trisomy 21 (previously explained in my blog) this accounts for 90% - 95% of all cases

Type 2 - Translocation occurs when a part of chromosome 21 detaches and attaches itself to another chromosome, having the same affect as having 47 chromosomes. This accounts for 3% - 5% of cases.

Type 3 - Mosaicism occurs during fertilisation when a) the person received 46 chromosomes at fertilization but somewhere during early cell division the chromosome 21 cell pairs failed to split creating a cell with 47 chromosomes b) the person received 47 chromosomes at fertilization but later during cell division the extra chromosome is lost. These occur in 2% to 5% of cases. A person with Mosaic Down syndrome may exhibit all, some, or none of the characteristics of Down syndrome depending on the percent of cells carrying the extra chromosome and where these cells are located.

Dayna.

Websites cited - http://www.nichd.nih.gov/health/topics/down_syndrome.cfm

http://www.downsyn.com/whatisds.php

The history of Down Syndrome

Unfortunately the history of Down Syndrome is not very pretty or respectable. In the 1800’s little was known about Down Syndrome and a lot of people were admitted to hospitals where they lived out their then, short lives. It wasn’t until 1866 when John Langdon Down discovered the link of Down Syndrome to intellectual impairment. He began to use the term mongoloid, comparing the facial features of Down Syndrome with people from Mongolia. In 1959 a French physician Dr Jerome Lejeune changed the world forever when he discovered that Down Syndrome was a chromosomal abnormality. Further research revealed they indeed had 47 chromosomes instead of 46. It was later discovered that chromosome 21 was responsible for this defect and so became Trisomy 21.

Information credited to: http://downsyndrome.com/history-of-down-syndrome/

Dayna.

What is Down syndrome

For those who don't know much or anything about Down syndrome it is a chromosonal anomaly which is caused by the failure of chromosome 21 to separate therefore causing the child to develop with three chromosome 21's instead of two. Approximately 1 in 800 babies is born with Down syndrome and while the chances of having a downs baby increase for women over 40, around 70% are born to mothers under 35. This extra chromosome can generate differences in physical features, intellectual impairment and different degrees of medical conditions such as congenital heart defects. 

Dayna.

Information credited to: http://www.dsaq.org.au/information-about-down-syndrome.htm

Must Read!

I recommend to everybody before they read my blog or any information about Down Syndrome to read the book I am about to tell you about. I read this book for an english assignment in high school which involved reading a biography. At this point in time I really only had very basic knowledge about this condition and I guess I was a bit biased and I thought the book would be really boring. After I finished this book my life changed, my eyes were opened up to a whole new perspective and I would be lying if I said it hasn't influenced me and made me who I am today.


This book is called "A Mother like Alex" it depicts the story of Alex Bell who at 28 became one of the first people to adopt as a single parent. The first child she adopted was Matthew, a child with Down Syndrome. She then went on to adopt 8 more children, Simon, Adrian, Nathan, Andrew, Chloe, Tom, Emily and Callum all presenting with Down Syndrome and other disabilities. Together they somehow make a family. This woman is inspiring and this is reflected in her book which I highly recommend.

Family Shot

Book Cover

Dayna.

Welcome

I have created this page as part of a TAFE assignment, the title pretty much explains it however my focus is going to be on Down Syndrome. Each week I will be posting different information about Down Syndrome and some of the issues they and their family face. As this is for an assignment any rude or negative comments will be deleted and I ask everyone to please respect the purpose of the page and other people's opinions. Many thanks and I hope you all enjoy reading and being educated about Down Syndrome.


Dayna.