Down Syndrome Facts (a Guide for Parents and Professionals)

By Maureen Biwi

It is a known fact that early detection and screening of Down syndrome can lead to several benefits. Prevention of several complications can be achieved by knowing the condition early on, before it can lead to other problems in the body. Diagnosis is done through a variety of ways.

A new simple blood test for Down syndrome in unborn babies can save expectant mums from risky invasive checks. This is good news compared to the current testing methods that ran risks of miscarriages, even if the foetus turns out to be healthy.

Although the signs and symptoms of Down syndrome are very distinct, there are still other symptoms that might confuse both doctors and parents. Each affected individual is unique and possesses different disabilities. Hence, generalizations cannot be made. Knowing the characteristics, nature and triggers can be very valuable for finding immediate alleviation measures. You can also avoid complications by checking for the early signs.

• Language: English
• Publisher: Lulu.com
• Release date: Jul 8, 2012
• ISBN: 9781471737961

Book preview

Down Syndrome Facts (a Guide for Parents and Professionals)

Down Syndrome Facts (a Guide for Parents and Professionals)

By Maureen Biwi

Copyright 2012 by Maureen Biwi

All rights reserved.

ISBN 978-1-4717-3796-1

Publisher: AA Global Sourcing Ltd

Website: http://www.aaglobalsourcing.com

Disclaimer

This publication is designed to provide competent and reliable information regarding the subject matter covered. However, it is sold with the understanding that the author and publisher are not engaged in rendering professional advice. The authors and publishers specifically disclaim any liability that is incurred from the use or application of contents of this book.

If you purchased this book without a cover you should be aware that this book may have been stolen property and reported as unsold and destroyed to the publisher. In this case neither the author nor the publisher has received any payment for this stripped book.

Dedication

This book is dedicated to the hundreds of thousands of incredible souls who have soldiered through Down syndrome all their life.

My friends, Colleagues, my family, siblings, my sisters in-law all seem to have been sent here to teach me something about who I was supposed to be.

Chapter 1: What is Down Syndrome?

Down syndrome is the accepted term among professionals in the USA Canada, United Kingdom and other countries; however, Down's syndrome is still used in some parts of the United Kingdom.

Down’s syndrome versus Down syndrome

The possessive use of an eponym should however, be discontinued, since the author John Langdon Down neither had nor owned the condition. In the UK, it is estimated that for every 1000 babies, one child with Down syndrome is born.

Today, it is no longer uncommon to find someone who has Down syndrome. It is a condition with no definite cure, which is why individuals need to know more about the nature, risks and symptoms be able care for their off springs. Down syndrome occurs in all human populations regardless of race, ethnicity, colour or breed, and analogous effects have been found in other species such as chimpanzee, dogs and mice.

Learning about the features and the syndrome itself can help you stay ahead and prevent complications. Here are some of the characteristics.

Defining Down syndrome

Down syndrome is also known as trisomy 21. It is a chromosomal disorder triggered by the presence of a portion or the entire extra 21st chromosome. The condition is named after John Langdon Down, a British doctor who described the syndrome back in 1866. The disorder was known as chromosome 21 trisomy by Jerome Lejeune in 1959. A mixture of major and minor structural differences characterizes the condition. In most cases, Down syndrome is linked to problems with physical growth, facial appearance and cognitive ability.

People with Down syndrome usually have below average cognitive ability, some have intellectual disability in the mild IQ of 50–70 to moderate IQ 35–50 range with individuals having Mosaic Down Syndrome typically 10–30 points higher. There are also a few who have severe to profound learning disability. About 1 in every 800 to 1,000 births is found to have Down syndrome; although the numbers are highly influenced by the mother's age other factors also have a role.

The Features

Several common physical features of the condition occur in individuals with a standard chromosome set too. Some of the inclusions may be a single transverse palmar crease, almond shape to the eyes due to the eyelid's epicanthic fold, upslanting palpebral fissures, poor muscle tone, shorter limbs, bigger than usual space between the second and big toes and a protruding tongue. They also may have a broad head and a very round face. Individuals may have some or all of the above features as all people with Down syndrome are individuals, and will tend to take resemblance to other members of their family. 

About the Chromosomes

A baby inherits genetic information from the parents during conception through 46 chromosomes. 23 come from the mother, while 23 comes from the father. In several cases of Down syndrome, a baby can inherit an extra chromosome 21. The total chromosome count then becomes 47 instead of the usual 46. The extra genetic material leads to the developmental delays and physical features linked with Down syndrome diagnosis.

There is no true known reason why Down syndrome occurs, and there are also no known ways to stop the chromosomal error that leads to the condition. The incidence of Down syndrome is estimated at 1 per 733 births, although it is statistically more common with older parents, both mothers and fathers due to increased mutagenic exposures upon some older parents' reproductive cells. However, many older parents produce children without the condition; older women have a higher risk of bearing children with the condition. Women 30 years old have an estimated 1 in 900 chance of bearing a child with Down syndrome. Women 35 years old have an estimated 1 in 350 chance of bearing a Down syndrome baby. Those 40 years old have a higher risk of about 1 in every 100.

Preparations

There is always a risk for parents to bear children with Down syndrome. The most important thing is that parents stay prepared just in case the inevitable occurs. Early screening and diagnosis can help people prepare themselves with knowledge and support to manage.

Chapter 2: Diagnosing Down Syndrome

It is a known fact that early detection