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Just what is Down syndrome?

Posted Oct 17 2008 6:18pm 2 Comments

Get It Down; 31 for 21

Michelle at Big Blueberry Eyes did something similar to this about her daughter Kayla a couple weeks ago, and I thought it was a good idea. After all, people who don't know your child well, may sometimes wonder about these things and don't ask. Also some people just don't really know the characteristics of Down syndrome other than the few obvious ones. I am going to share with you the typical characteristics of Down syndrome, those that Gabi has, and those that she doesn't.

Gabi was born with Trisomy 21. This is a type of Down syndrome that is characterized by 3 chromosomes in the 21st set of chromosomes. Most people have only 2. The tri in Trisomy means 3, and of course the 21 in "Trisomy 21" indicates which set of chromosomes are affected. This type of Down syndrome will affect every cell of the body. Most people with Down syndrome have this type. This type is a result of either the mother's egg or the father's sperm donating 2- #21 chromosomes rather than 1 from each parent. 90% of the time it is from the mother's egg. It's important to note that the mother or father should not feel any sort of blame for this extra donation. This is not a result of any type of substance abuse or any other careless or reckless behavior of the parents. It just happens. Sometimes it can related to the parent's age. I was 27 years old when I conceived Gabi, and so was her father. Age was not a factor in our case.

The 2 other types of Down syndrome are Robertsonian Translocation and mosaic. Robertsonian Translocation is when there are 2 breaks in 2 separate chromosomes (usually the 14th and 21st chromosome)and some of the 14th chromosome is replaced by extra 21st chromosome. This results in the normal 46 chromosomes, but with extra 21st genetic material. Mosaicism is very similar to the common Trisomy 21. Instead of affecting every cell it only affects some of the cells.

People with Down syndrome typically have some degree of delays in learning. Most have mild to moderate delays. Gabi has a moderate delay in learning. She has needed Physical Therapy (PT), Occupational Therapy (OT), and Speech Therapy (ST) throughout her life. Although at present time, PT is not necessary for her as she has pretty much mastered the skills they assist with. Many children with Down syndrome do very well in general education classrooms while others need placement in a classrooms for children with special needs. Gabi is doing well in a special needs setting with being pulled to a general education classroom for specials (PE, music, art, lunchtime). She also has made many friends in school with children of varying abilities.

As far as physical features go, the following things are common physical features of people with Down Syndrome. Some Gabi has, and some she doesn't.

Epicanthal fold according to Wikipedia is a skin fold of the upper eyelid (from the nose to the inner side of the eyebrow) covering the inner corner of the eye. Gabi does not have this so this picture is not of her.

Muscle hypotonia (poor muscle tone) is a characteristic that Gabi did have, but it has improved through time. Several years ago, it was not uncommon for us to be shopping in the grocery store with Gabi in the cart and Gabi would be holding each leg with her hands outstretched to each side. And, when Gabi was 1st learning to sit up, she would be lying on her abdomen with her legs behind her. She would then bring each leg out to the side of her on opposite sides. This eventually turned into the splits before she would bring them in front of her body where she would finally be in a sitting position. These things were possible for her to do because of the hypotonia.

A flat nasal bridge? Maybe.

A single palmar fold also known as a simian crease can be seen in this picture below.

Gabi does not have this as you can see below.

She also has curved pinky fingers which is another physical characteristic of Down syndrome. This picture actually shows Gabi's pinkies as straight as they can go. Usually the hands are broad and flat with short fingers, but I think Gabi's are pretty much normal in size.

A protruding tongue can be due to small oral cavity, and an enlarged tongue near the tonsils. This is something Gabi does have, but doesn't typically have her tongue hanging out of her mouth unless she is tired. This picture was taken of her after VBS this summer. It was about 9 pm at night, and she was tired. Sorry about the poor quality. It was taken with my cell phone.

A short neck...hmmm....I don't think Gabi has this. Her neck looks like a pretty typical size to me. I'll let you be the judge of that.

White patches on the edge of the irises are known as Brushfield spots. Gabi has those and they make her eyes sparkle. It's one of my favorite features of Down syndrome. The eyes are almond-shaped and have an upward and outward slant. As you can see Gabi has this. That feature is probably the single most identifiable feature that most people notice.

A gap between large toe and second toe is another characteristic. Gabi does have this. This has become more noticeable as she has become older. The crooked and overlaping toes on this foot are not related to Down syndrome. It's actually a familial characteristic she inherited from my aunt. It's only on her right foot.

Head size smaller than average is not something I really noticed with Gabi until the other day when she put on Preston's hat (Gabi's 10 month old baby brother) and it fit! So, maybe her head is a little smaller.

Ears tend to be smaller and lower-set. As you can see from this picture, hers are, but I don't think it's as noticeable as it was when she was a newborn.

Gabi also doesn't have the fatty pad behind the neck that is characteristic of Down syndrome.

Short stature is another characteristic. Gabi is 48 inches tall today and 59.5 lbs. On the typical growth chart that puts her in the 17th percentile for height and 63rd percentile for weight. On the Growth chart for children with Down syndrome she is in the 85th percentile in height and 58th percentile in weight. So Gabi is tall for someone with Down syndrome, but short for a typical child. Legs and arms tend to be short in relation to the body, but Gabi looks pretty proportionate to me.

Medical problems associated with Down syndrome are summed up nicely in these paragraphs I got from
While some kids with DS have no other health problems, others may experience a host of medical issues that require extra care. For example, half of all children born with DS also have congenital heart defects and are prone to developing pulmonary hypertension (high blood pressure in the lungs). A pediatric cardiologist can monitor these types of problems, many of which can be treated with medication or surgery.

Approximately half of all kids with DS also have problems with hearing and vision. Hearing loss can be related to fluid buildup in the inner ear or to structural problems of the ear itself. Vision problems commonly include amblyopia (lazy eye), near- or farsightedness, and an increased risk of cataracts. Regular evaluations by an audiologist and an ophthalmologist are necessary to detect and correct any problems before they affect a child's language and learning skills.

Other medical conditions that may occur more frequently in children with DS include thyroid problems, intestinal abnormalities, seizure disorders, respiratory problems, obesity, an increased susceptibility to infection, and a higher risk of childhood leukemia. Fortunately, many of these conditions are treatable.

The article left out atlanto-axial instability (AAI) which is a problem with the spine at levels C1 and C2 where there is too much movement in that area making it unstable. A cervical xray is recommended at approximately 3 years of age to detect this. Gabi had her xray at that time, and AAI was ruled out. Gabi does however have some of the other health issues noted in the paragraphs above. She has slight hypothyroidism, but hasn't been on thyroid hormones in a few years. She also has narrowed ear canals and had to have tubes placed in her ears last year to drain the excess fluid that was causing some hearing issues. Her teacher has been suspecting some problems with her vision which we will be following up on within the next few months. (Looks like I will be opting for vision insurance this year.) She also experiences some eye crossing when she is very tired. But the most significant health problem Gabi was born with was a cardiac defect. She has Tetralogy of Fallot which is a combination of several different defects. A VSD-ventricular septal defect (which means a hole between the lower chambers of the heart causing mixing of oxygenated and unoxygenated blood), an overriding aorta, thickening of the pulmonary artery, and eventually because of the heart working so hard, it also causes thickening of the muscle of the right ventricle. She also had an ASD-atrial septal defect (a hole between the upper chambers of the heart.) Gabi had open heart surgery when she was 3 months old to correct this defect and sees her pediatric cardiologist yearly for check-ups. She is no longer on any medication for her heart and has no activity restrictions associated with it.

I hope this helped you to understand Down syndrome a bit more. Please feel free to ask any questions you come up with. My goal is to educate people to make life better for those individuals living with (NOT suffering from) Down syndrome.

Don't forget to come back here every day starting the week of October 29th for more chances to enter myFall Y'all Bloggy Giveawayhosted by Shannon atRocks In My Dryer. I will have 5 giveaways that each commenter will be eligible for.
Comments (2)
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Thanks so much for that explanation, and for reminding us that humans are living with, not suffering from, DS. It's an important distinction in ways that you are already familiar with obviously, and one that people often forget in all health issues, even as simple as suboptimal vision that requires the correction of glasses to see or read.

It's likely that there are no perfect human beings, only people with varying degrees of imperfections that they, and we, therefore, must learn to tolerate and negotiate - physically, cognitively, and emotionally.

It was a good presentation; thanks.




Awsome information.  Just found this site and I just know it will be of great help in learning allm about  my new Grandson.
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