Down Syndrome

Chiraayu, Richardson, Kunal, Noah, Eyad

General Information:image.jpeg

Down syndrome, Down's syndrome is a chromosomal disorder caused by the presence of all or part of an extra X chromosome The presence of extra or less chromosomes can cause many problems, or can not effect the person that contains the chromosome. It is named after John Langdon Down, the British doctor who described the syndrome in 1866. The disorder was identified as a chromosome 21 trisomy by Jérôme Lejeune in 1959. The condition is characterized by a combination of major and minor difference s in structure. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. Down syndrome in a baby can be identified with amniocentesis during pregnancy or at birth, but in some cases not until a few months after the baby is born. Some people have the opinion that vaccination to small children can cause the disorder to become strong to the point that people are disgnosed.


Interesting Stats for Down Syndrome


  • Down syndrome occurs in roughly 1 of every 750 births in the United States.
  • The risk of having a child with Down syndrome is less than 1 in 2,500 among young women.
  • The risk of having a child with Down syndrome increases to roughly 1 in 350 when women reach 35 years of age.
  • After age 45, the risk of having a child with Down Syndrome is about 1 in 25.
  • 40 to 50% of children with Down syndrome have congenital heart defects in the US (Association for Children with Down Syndrome)
  • Having Down syndrome increases the risk of Wrong Diagnosis15-20 times in the US (Association for Children with Down Syndrome)
  • About 5,000 children are born with Down syndrome each year in the US (Association for Children with Down Syndrome)


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This is a boy with Down Syndrome. Please note the physical traits we have provided below

Physical Traits
  • Weak Muscles throughout the body
  • A short wide neck with excess fat and skin
  • Short and Stocky Legs and Arms
  • Short Stature

Facial Features:
  • Irregularly shaped mouth and tongue. The child's tongue may partly stick out. The roof of the mouth (palate) may be narrow and high with a downward curve.
  • A nasal bridge that looks pushed in. The nasal bridge is the flat area between the nose and eyes.
  • Tissue buildup on the colored part of the eye (iris). These areas are known as Brushfield's spots and do not affect the child's vision.
  • Small Low Set Ears
  • Most children that have down syndrome need corrective senses.

Other Medical Conditions that may accompany Down Syndrome
  • Cognitive Disability (go down for more)
  • Heart Defects
  • Other diseases like Celiac disease, hypothyroidism or other eye conditions
  • People with down syndrome do have shorter life expectancy


Linguistic and Cognitive Disabilities


Memory Skills:
In addition to holding short term memory, the memory system holds an important part in longer term recognition, and other skills.

The main part responsible for learning languages and arithmetic (all long term memory) is the phonological loop, which holds the sound patterns for words.
In order to learn a first language a child has to be able to store accurate representations of the sound patterns of words in order to link them to meaning and in order to be able to copy or produce the word when talking.

If the phonological loop does not function well, speech and language will be delayed. There is evidence that there is a basic impairment in phonological loop functioning in children with Down syndrome. This is probably a major reason for their speech and language delays and difficulties and it also affects their ability to process spoken language and carry out cognitive tasks.


Reading and Writing:
In recent years, the importance of reading instruction for children and adults with Down syndrome has been increasingly recognized.

Many individuals with Down syndrome can learn to read and write to a level that will be a useful independent skill in their everyday lives, although not to there normal grade level but good enough to help them in normal life. Improving their ability to participate in formal education and learning, increasing employment opportunities and giving them access to books and newspapers.

Research also supports the view that all children with Down syndrome will benefit from being read to and from being in reading instruction from an early age as these activities will improve their spoken language and memory skills, even if they do not become independent readers themselves.
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Motor Skills:What are motor Skills?
Basically, motor skills means the ability to control your central nervous system and preform actions. This would be any daily activity you do (e.g. sitting, walking, running)

Many babies and young children with Down syndrome are late to reach the early motor milestones such as grasping, rolling, sitting, standing and walking. These early motor disablities continue throughout childhood from getting dressed by oneself, coming ones hair, eating, drinking, etc.


Research in the motor skills of Down Syndrome is limited and many myths keep emerging, without supporting evidence. One of these myths is hypotonia, or 'poor muscle tone'. Almost every article we have read has used hypotonia as an explanation, when in fact it probably plays little part in determining children's motor progress. Please be careful when researching this topic and use the related links we have provided.

Linguistics:
Research has shown that children with DS have a difficult time learning and speaking expressive languages (e.g. english). This can be seen by the prolonged time it takes to transform babbling to meaningfully speech. Speech increases in severity during childhood. Basically, when a normal child would be able to speak (sentences not just words) at around 2-3. It takes much longer for a child with DS. Depending on the child, it might take up to age 8 before the child is fluently speaking an expressive language.





Research

A lot of the research done with down syndrome is founded by donations made by the parents of children with down syndrome, because of this there is not enough founding at the current moment to help find a cure for this disease caused by the 21 chromosome. On of the major locations that deals with down syndrome is Stanford university.
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Treatment or Prevention

Unfortunately, there is no way to prevent or even treat this disease because it is gene related and is different for every person. However, there is treatment for the medical conditions that accompany Down Syndrome.


Life Expectancy
  • The life expectancy has increased over time
  • It is getting to the point where kids with down syndrome can out live their parents
  • Three quarters of kids with down syndrome will die before they are born
  • Babies have a 15% chance of dying before they reach the age of one
  • People with down syndrome have a 35% chance they will die before reaching the age of 50

  • The main cause for shortened life is heart problems
  • Problems with the digestive system is also very dangerous and can cause shortened life
  • Esophageal atresia is where the esophagus doesn't connect to the stomach but comes to an end which means food cannot be digested
  • Transesophageal fistula causes the esophagus to connect to the lungs which causes drinks and foods to enter the lungs
  • Hirschsprung disease is where there is an obstruction in the colon, meaning solid body wastes cannot be eliminated or not very badly elminated
  • Duodenal atresia is a blockage which prevents the contents of the stomach from emptying out.







A Parent's Account of Down Syndrome


I would like to share with you my experience in the hope it might be of comfort to a new parent, a friend or family member at what is often a difficult time - the birth of a child with a disability.

When I was giving birth to Fraser I knew something was wrong. He didn't push against me, didn't stretch the walls of my birth canal, and as he emerged he was soft and floppy. But while I can tell you I knew something was wrong at another level I didn't have a clue.

So when Fraser was handed to me and I suggested to my husband Chris (who is a doctor) he had 'downsy little eyes' I didn't notice that he didn't respond directly. Instead his silence (and looking back on it his dread and fear of what I was saying) went straight over my head.

Seconds later the staff asked me if I had had an amino. I said no, and thankfully because I was still feeling the effects of the gas, the bluntness and insensitivity of the comment didn't hit me. To tell the truth it didn't hit me until years later. At the time I just thought it was a 'depressing' and intrusive question.

Unconsciously though - even then - I knew my son had Down Syndrome, but I couldn't take it in, couldn't feel my way there, I needed time. But time is rarely an option in hospital and the paediatrician (who we knew from the birth of our first son) was paged immediately.

The whole time Chris and I were waiting his arrival we were never alone and it was only when I was moved from the labour ward to my own room that he was able to tell me that the staff thought our son had what I had blurted out.

I was totally devastated. But there was no time for us to talk because as soon as Chris had uttered the words 'Down syndrome' the paediatrician entered the room and it was obvious he perceived our birth outcome - a disaster.

Our son would walk, but he would never cook, never understand danger, never live independently, never, never, never. . .

The atmosphere was one of intense discomfort. He as well as most of the staff clearly expected me to be angry. And wanted me to express that anger. But I wasn't angry, I was sad. Perhaps because I wouldn't have done anything had I known - I had felt him kick - he was wanted - and back then there wasn't any test I could've had early in the pregnancy.

I also figured that Chris and I would be OK parents, that if anyone had to have a child with a disability it may as well be us. This isn't to say I found it easy. I didn't. I felt intense shame - I had given birth to an imperfect child - and while I wanted friends to congratulate me I also wanted them to realise how sad I was.

The feelings of shame were profound, in part because I felt people thought I should have had the amnio - that it was my choice to have Fraser and therefore my fault. And while it was my choice (and even back then I accepted it had been my choice) I didn't like the way people questioned my decision not to have had the test. Unlike many other disabilities there seems a belief that Down Syndrome is easily avoided - if only the mother has the test.

When I look back at the first year I remember there was a constant voice in my head - it happened to me, I have a child with Down syndrome. And when I went out in public I found it hard, especially hard going into clothing stores or shops where I might buy something for Fraser. I was convinced everyone would be thinking - why would she want to buy a 'vegetable' clothes. Buy toys for a 'vegetable'.

Ten years later the intense feelings of shame have turned into intense feelings of pride. It didn't happen overnight, but rather came about because of a multitude of factors - big things like a wonderful school and the passage of time, and little things like seeing the movie 'I am Sam' and meeting other families in a similar situation.

And of course there is Fraser. A boy for whom each and every milestone is slow, but when it does finally happen - a major achievement. And that is worth everything. So to every new parent my heart goes out to you and I hope my story helps to make those first few days and months a little less lonely and a little less sad.

Related Links

National Down Syndrome Society
DownSyndrome.com
National Association for Down Syndrome
Down Syndrome Online
Anna's Angels Foundation
Stanford Research