The most common form of Down syndrome is known as Trisomy 21. Individuals with Trisomy 21 have 47 chromosomes instead of the usual 46 in each of their cells. The most common form of Down syndrome is known as Trisomy 21. Individuals with Trisomy 21 have 47 chromosomes instead of the usual 46 in each of their cells. The condition results from an error in cell division called non-disjunction. Prior to or at conception, a pair of 21st chromosomes in either the sperm or the egg fails to separate.

As the embryo develops, the extra chromosome is replicated in every cell of the body. This error in cell division is responsible for 95 percent of all cases of Down syndrome. Having an extra copy of this chromosome means that each gene may be producing more protein product than normal. Cells seem to tolerate this better than having not enough protein, or having altered protein due to a mutation in the DNA sequence. The condition leads to impairments in both cognitive ability and physical growth that range from mild to moderate developmental disabilities. Through a series of screenings and tests,

Down syndrome can be detected before and after a baby is born. The only factor known to affect the probability of having a baby with Down syndrome is maternal age. That is, less than one in 1,000 pregnancies for mothers less than 30 years of age results in a baby with Down syndrome. For mothers who are 44 years of age, about 1 in 35 pregnancies results in a baby with Down syndrome. Because younger women generally have more children, about 75% – 80% of children with Down syndrome are born to younger women.

How do people get Down syndrome?

Down syndrome occurs because of an abnormality characterized by an extra copy of genetic material on all or part of the 21st chromosome. Every cell in the body contains genes that are grouped along chromosomes in the cell’s nucleus or center. There are normally 46 chromosomes in each cell, 23 inherited from your mother and 23 from your father. When some or all of a person’s cells have an extra full or partial copy of chromosome 21, the result is Down syndrome.

There are normally 46 chromosomes in each cell, 23 inherited from your mother and 23 from your father.Down syndrome is typically caused by what is called non-disjunction. If a pair of number 21 chromosomes fails to separate during the formation of an egg (or sperm), this is referred to as non-disjunction. When that egg unites with a normal sperm to form an embryo, that embryo ends up with three copies of chromosome 21 instead of the normal two. The extra chromosome is then copied in every cell of the baby’s body. Non-disjunction events seem to occur more frequently in older women. This may explain why the risk of having a baby with Down syndrome is greater among mothers age 35 and older.

What are the symptoms of Down syndrome?

Symptoms is really a misnomer. People have Down syndrome and their characteristics. Despite the variability in Down syndrome, individuals with Down syndrome have a widely recognized characteristic appearance. Typical facial features include a flattened nose, small mouth, protruding tongue, small ears, and upward slanting eyes. The inner corner of the eyes may have a rounded fold of skin (epicanthal fold). The hands are short and broad with short fingers, and may have a single palmar crease.

White spots on the colored part of the eye called Brushfield spots may be present. Babies with Down syndrome often have decreased muscle tone at birth. Normal growth and development is usually delayed and often individuals with Down syndrome don’t reach the average height or developmental milestones of unaffected individual.

How is Down syndrome treated?

No cure exists for Down syndrome. But physical therapy and/or speech therapy can help people with the disorder develop more normally. Screening for common medical problems associated with the disorder, followed by corrective surgery, can often improve quality of life. Moreover, enriched environments significantly increase their capacity to learn and lead a meaningful life.

Interesting facts about Down syndrome

• Down syndrome is really the only trisomy compatible with life. Only two other trisomies have been observed in babies born alive (trisomies 13 and 18), but babies born with these trisomies have only a 5% chance of surviving longer than one year.
• In 90% of Trisomy 21 cases, the additional chromosome comes from the mother’s egg rather than the father’s sperm.
• Down syndrome is the most common genetic disorder caused by a chromosomal abnormality. It affects 1 out of every 800 to 1,000 babies.
• Down syndrome was originally described in 1866 by John Langdon Down. It wasn’t until 1959 that a French doctor, named Jerome Lejeune, discovered it was caused by the inheritance of an extra chromosome

]]> http://downsyndrome.com/what-is-down-syndrome/feed/ 60 http://downsyndrome.com/my-son-is-smart/ http://downsyndrome.com/my-son-is-smart/#comments Sun, 11 Dec 2011 23:27:21 +0000 Justin http://downsyndrome.com/?p=3850 Raising a child with Down syndrome is a unique experience. The way they learn is unpredictable and children progress at their own pace. Kids with Down syndrome have abilities that are all over the map. Some will learn with their typical peer group until things start to slow down while other kiddos struggle for every new accomplishment and it takes them a little longer.

Teddy is 6 years old now and is sort of in the middle. He is sharp as a tack but he has issues with socialization and also struggles when he needs to perform tasks that require him to focus for extended periods of time. He gets  tense and he needs to back off and take frequent breaks.

Teddy has an uncanny ability to focus on TV shows. He can watch them over and over and he actually can recite the words to hundreds of episodes of Sesame Street, Curious George, Cat in the Hat, and Super Why verbatim, even the commercials.

Not only does he know every word but he also can act out the mannerisms and do the physical movements like the actors. It is incredible. I know what you are thinking — too much time in front of the tube, but Teddy also gets a lot of outside play time, reading, playing with his brothers, therapies, homework, etc. I think he is well rounded. He calms down and feels more comfortable in his own skin when he is able to relax and watch his shows.

One of the great byproducts of him watching these educational shows are the fantastic lessons they teach. Teddy has great abilities with math and alphabet thanks to Sesame Street and he is picking up other tidbits from Curious George and Cat in the Hat. But recently he has begun to watch Super Why. Super Why is heavy on spelling and does a really good job of relaying information in a very intuitive way.

The other evening I was on the computer and Rebecca was fixing dinner. Teddy ran into the room super excited with his magnetic writing pad in his hands and he looked up at me and said ” Dad, Dad, Dad — I’m SMART!” then he held up his writing pad and there it was; the word SMART spelled out perfectly and legibly.

I could not believe my eyes…This just came out of the blue and although I knew he was able to write words like Cat and Pig with some oversight. I have never seen him do anything like this before. He then started shaking his hands and smiling and yelling and jumping. I had tears come to my eyes; it was so special.

Then something really incredible happened. He sat down on the floor, erased his board and wrote it again, and then again, and then again. Then … he erased the board and wrote the word SPELL. The … he erased the board and wrote the word MUSIC … Then … he erased the word and wrote the word BALL.

It was a magical experience that I will never forget. One thing this reinforces for me is that the capabilities of our kiddos are limitless. They will keep learning throughout their lives and they will reach heights that we never dreamed for them.

I have goals for Teddy that I hope he will also have. I want him to go to college, drive, have a partner or wife and most importantly is happy and treated well in his community.

Everyone with a child with Down syndrome, please do me a favor. Go over to your kiddo after you read this post and give them a huge hug and kiss and tell them that you are proud of them and that they can be anything they want to be in this world.

They are SMART!

New Post

To create a new post for your blog, click on the dropdown arrow next to the posts heading in the left-hand side bar to open the posts module. Click on Add New in the posts module to be taken to the Add New Post screen.

This will allow you to add a new post to your blog. There are a lot of options on this page which will be covered in more detail in other videos.

Create New Post

The most important elements are the post title, editor, categories, and the publish section. The first thing to do is enter a post title and then the tab key to move into the editor section, or click your mouse in the editor section of the screen. Next, type or paste your text into the visual editor.

Post Formatting

You can choose a post format which will determine how your website will display this post. For example, you could have a standard blog post with a title and paragraph, or a short aside which omits the title and only contains the excerpt.

If this format option is missing from your dashboard, it is because your website does not support post formatting. You will need to see your web developer to get post formatting activated.

Categories & Tags

Assign the post to a category to determine where your post will appear on your website.

Preview and Save

Once you have finished all your editing, simply click on the preview button in the publish module in the right-hand side bar. If everything looks good and you are happy with the changes, you can click on the save button located next to the preview button.

If you are ready to publish your new post, you can publish your changes for the rest of the world to see.

Happy Halloween Friends!

Love Rebecca, Teddy, Cooper, Cade, and Justin