Teaching Tuesday: Physical Features of Down Syndrome

"FYI:  My anatomy does not dictate my worth"

Trisomy 21, or Down syndrome is often referred to as a "visual" disability as those with an additional copy of the 21st gene can share many physical characteristics. The extra chromosome may affect many body systems, or not; it does not just affect mental functioning and facial features. Those with Down syndrome may have few or all of the characteristics listed here. Having some or almost none of these characteristics does not indicate the "degree" of Down syndrome one may or may not have. It is worth noting that there is no such thing as a "mild" or "severe" case of Trisomy 21; one either has it or they do not.

Head and Facial Structure

People with Down syndrome can have Microgenia or a smaller than average chin, overall broadened and flattened facial features and possibly a shortened neck. One of the most recognizable features of Down syndrome are upturned almond shaped eyes with epicanthic folds. A flattened nasal bridge is also common, as well as macroglossia or an "enlarged" protruding tongue (due to both size of the tongue and a smaller oral cavity) and Brushfield spots (white or grey spots on the iris). The ears are often smaller in size and low set. Teeth can be irregularly formed, sized and placed in the skull incorrectly.

For more complications of the eye arising from Down syndrome, please consult Eye Problems Frequently Experienced with Down Syndrome. For more complications of the ear arising from Down Syndrome, please consult Hearing Complications with Down Syndrome.

Musculoskeletal

Most people with Down Syndrome have an overall shorter height and tend towards being more overweight than their peers. Commonly, there is a shortening of the femurs or humerus bones or both, causing the legs or arms to be smaller than normal. Often there is brachycephaly or a flattened skull. Hypotonia or poor muscle tone is common, as is hypermobility or the ability to flex certain joints beyond their normal range (this may not affect all joints). Related to this is a potentially dangerous condition known as Atlanto-axial Instability where there is a looseness between the fist and second vertebrae. It is also not uncommon for people with Down syndrome to have diastasis recti or a separation in the abdominal muscles. Umbilical hernias are also frequently seen.

Hands and Feet

A single palmar crease or simian crease is very common, as is "sandal foot" or the presence of a larger than normal space between the great and second toe. Short fingers, an increased amount of ulnar loops in the fingerprints and a kink or bend of the little finger towards the hand (known as clinodactyly) are also common.

Many people with Down syndrome also have congenital heart issues as well as problems with the digestive and other organ systems. Although considered a "visual disability" by some, Down syndrome can many aspects of the body that may not be readily noticeable.  Many of these traits are best viewed as quirks and have little to no impact on quality of life at all.

Medical Monday: Eye Conditions Frequently Experienced with Down Syndrome

Wyatt and his beautiful baby blues

Like many new parents of a child with Down syndrome, we were referred to an eye specialist for early testing. I was unsure what to expect and was generally unaware of the variety of eye/vision issues that a child with Trisomy 21 could potentially experience in their lifetime. We were seen by both an opthomologist (a physician who specializes in diseases of the eye) and an orthoptist (a professional who primarily specializes in the functioning of the muscles of the eye). This list was compiled in the interests of self-education and is shared now for those of a similar mindset. As stated earlier, it is by no means comprehensive. Any or all concerns that you may have about your child should be discussed with your physician.

Eye conditions often experienced by those with Down syndrome (Trisomy 21) can include (but are not limited to) the following:

Conditions corrected using glasses or contacts (and in some cases, minor surgery)

Strabismus
Often referred to as "lazy eye", strabismus is a condition where the eyes do not line up properly. This is usually due to the muscles of the eye not operating together to focus both eyes on a single point.

Hypermetropia
"Longsightedness" is generally the term used to describe this condition. Hypermetropia occurs when the lens of the eye is unable to focus properly on near objects. The lens is unable to focus properly which results in a blurry image..

Myopia
Myopia, more commonly known as "nearsighted" also is due to the lens being unable to focus properly, this time on objects that are far away. The lens of the eye is unable to focus the image on the retina, causing blurred vision unless looking at close objects.

Astigmatism
When either the lens or the cornea of the eye is curved or tilted, the image may be blurry due to a condition known as astigmatism.

Presbyopia
An age related condition, presbyopia is the gradual loss of the ability to focus on near objects.

"Weak accommodation"
This term describes the condition where the individual has difficulties focusing on near objects in addition to being near-sighted or far-sighted. This may occur with or without the use of glasses.

Eye Conditions Treated with Medication

Nystagmus
This condition is characterized by small involuntary eye movements that may appear jerky in nature. While tracking a moving object, the eye is observed jerking back occasionally as the eye moves in one direction. This irregular eye movement is called nystagmus.

Blepharitis
Blepharitis is the term given to a chronic inflammation of the eyelid. The inflammation can be caused by a variety of sources including dry skin and excreted oils, parasites and bacteria. A daily cleaning regimen helps prevent infections that need antibiotic treatment.

Additionally, people with Down syndrome can often experience watering eyes and recurrent eye infections

Eye Conditions Treated by Medication or Surgery

Glaucoma
Glaucoma is a progressive condition where damage to the optic nerve is caused by increased pressure in the eye. Glaucoma may be managed by medication initially, yet surgical intervention may be required.

Cataracts
A cataract is a clouding of the lens of the eye; a progressive condition that will eventually lead to blindness if not treated. These are removed surgically.

Keratoconus
With this condition, the cornea of the changes shape and eventually becomes cone-shaped rather than a gentle curve when the eye is viewed from the side. Keratoconus will cause blindness if left untreated. In the initial stages this is addressed with contact lenses that adhere to the cornea, changing its shape. Eventually, surgical intervention may be needed. Progression of this condition is very rapid in those with Down syndrome.

As with any list of "things that can occur with Down syndrome", some individuals may have some, or none of the above conditions. It is also noteworthy that all of the above conditions are easily treated and occur spontaneously in the general population as well.

Life Without DS

I often wonder what it would be like if Wyatt was like his twin and "typical".  Now, this is not something I dwell on a lot, but it is just one of those things that comes to me from time to time.  While I'm changing a diaper...  At 2:47 am as I'm rubbing a baby's back trying to get them to go back to sleep.  It's just something that occurs to me occasionally.

On the plus side, the last year might have been easier.  Maybe.  On the other hand, I would not:

• know what it was like for his little bean bag body to snuggle into my neck
• know what his little sighing voice would sound like as he coos his hello
• understand what an "explosion of joy" really looked like
• be so happy to be greeted by feet
• know to celebrate every milestone for what it is:  victory
• have learned so much about congenital heart defects
• know so much about DS
• have helped so many others
• have connected with so many wonderful parents, some of which have children with DS, some who do not
• have plumbed the depths and breadth of my own heart

I know I say this a lot, but there are many things that we would not see if he did not have Down syndrome.  There are a million little nuances that are just Wyatt too.  Both together make up my wonderful little man.

And I love his sense of humour...

Added to the 'Define Normal' Blog Hop! Find out more @ Just Bring the Chocolate

Happy Down Syndrome Awareness Month!

When the smoke cleared after the twins birth and I decided to become a vocal advocate for Down Syndrome, I began looking up a few things.  Is there an official ribbon?  Is there a day, a week, a month dedicated to Down Syndrome?  Are there any particular functions associated with this?

I was happy to find via numerous online sources that my favourite month, October, was Down Syndrome Awareness month.  I was a little miffed shortly thereafter as I discovered that this is only in the US.  Canada, it seems, does not recognize October as Down Syndrome Awareness month (or any month for that matter).  It has a week, from November 1-7 th.  October is recognized officially for the following:

Autism Awareness Month, Brain Tumor Awareness Month, Breast Cancer Awareness Month, Canada Library Month, Car Safety Month, Child Abuse Awareness Month, Community Living Awareness Month, Community Support Month (Ontario), Eye Health Canada Month, Foster Family Month (British Columbia), Fundraise for Farley Month (Ontario), Innovation in Eye Care Month, Investor Education Month, Islamic History Month, Learning Disabilities Awareness Month, Lupus Awareness Month, National Flu Prevention Awareness Month, National Occupational Therapy Month, Sudden Infant Death Syndrome Awareness Month, Celiac Awareness Month, Women's History Month, Healthy Workplace Month.

Several of these do in fact relate to Down Syndrome, but I don't see "Down Syndrome" listed there.  I'm hoping it is a simple oversight as it is the most common genetic disorder.  (Seriously, Library Month?)

I even looked at the rest of the year.  Nothing.  Not even March, where World Down Syndrome Day is March 21 (3-21 or Tri-21, get it?)  Nada.  No love for Down Syndrome.  That's pretty damn sad, Canada!

I have chosen, in honour of Down Syndrome Awareness Month (US), to participate in the fifth annual 31 for T21 Blogging Challenge.  Every day, for the month of October, I will be blogging to raise awareness.  I will continue to do so for November 1 - 7 as well.  Over one month of solid blogging!

Grab This Button

It's a daunting task to be sure, but I have a plan.  In order to keep it easy, I've dedicated days to certain Down Syndrome related themes and will blog accordingly:

Medical Mondays
Teaching Tuesdays
Wyatt's Day (Wednesday)
Therapy Thursday
Factoid Friday
Story Day Saturday
Family Day (Sunday)

Wish us Luck!  Happy Down Syndrome Awareness Month! (Regardless of where you may reside.)