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.

"...Eyes, Ears, Mouth and Nose."

I can't believe it's been over 15 weeks.  I don't know where the time went.

Well, that's not true.  I do know where the time has gone:  it's been a haze of feeding, bottling, diaper changing, dishes, laundry and doctor's appointments.  It's really the amount of time that has passed that is a bit staggering.  Another astonishing fact is that in the space of just under four months they have almost tripled their weight and gone from swimming in the preemie clothes to filling out 0-3 mos sizes nicely.  Amazing.

They've had a little help along the way tho'.  My enormous appetite and unquenchable thirst has guaranteed that they continue to get pints of Mommy's Finest at mealtime.  I'm still pumping afterwards for the "top up";  after they feed, they get a bottle of EBM with a bit of formula powder added in for extra calories.  The recipe is supposed to be 5ml of the powder in 90ml of EBM which gives them an extra 20kCal.  The top up bottles are currently 60ml, so you can see that the math does not easily line up.  Having a "mixed" bottle of extra in the fridge is just another step in the "kitchen chemistry" that takes up time and energy that can be spent somewhere else.   That's another mixer bottle to wash and sterilize and keep track of (as the mixture is only good for 24 hours, ergo, so is the bottle, no matter how young the leftovers in it are).  Instead, when I'm pouring each of the 60ml bottles, I throw in 2.5ml (or less) of the powder.  They are getting less formula than prescribed, but as you can see, they are not missing anything.

My little chubsters. Thanks to Penny for zapping out that annoying tag and making my babies even more beautiful.  Love, love, love it!

The top up is an annoying practice that my pediatrician has insisted that I keep up.  I realized the other day that (another) one of the reasons that I felt so remote from the babies is the lack of snuggle time after a feed.  Normally it's the perfect time to cuddle and yes, even doze off.  Not this Mama... I have to finish up with them and then put them down to have a Medela Moment.  It's one of those million little things that contribute to a big thing.  I'll be glad when I no longer have to force feed my little Strasbourg geese.

Wyatt is still holding on strong.  Other than chilly feet and hands (his feet are usually mottled to blueish) he remains mainly asymptomatic from his AVSD.  He's usually a bit mottled all over as well, so I just make sure that he is a little more warmly dressed than his sister.  We've added two new doctors to his roster as well;  last week we saw the ENT and Friday we met his Opthomologist.

Now, the ENT has been described to me as "gorgeous" (and by that alone, I fear I have given his identity away), and he is man-pretty... if you are into thin metrosexuals, which I am not.  He did however use an iPad the entire time, which I thought was pretty cool and very forward thinking of him.  Among the countless little differences that Trisomy 21 offers up are tiny ear canals.  Even with the smallest pediatric head on the otoscope, he couldn't visualize the ear drums to see if Wyatt has any fluid built up (DS kids commonly end up with tubes in their ears due to this).  All that flaky skin on the outside of Wyatt's head lives inside his canals too;  even with his fancy extraction machine and thrilling headgear, the ENT couldn't clear the canals enough to get down there. We have to go back in two weeks after I goop Wy's ears with mineral oil every day.  He doesn't totally hate it, which I guess is a good thing.

I had no idea what was in store for Wyatt at the ophthalmologists.  Many DS kids have eye problems including (but not totalling) strabismus, hypermetropia, myopia, astigmatism, weak accommodation, nystagmus, cataracts, glaucoma, keratoconus, blepharitis, presbyopia, watering eyes and frequent eye infections.  Since I am myopic with a bad astigmatism and have been such since childhood, I'm not too worried about him wearing glasses in this family.  However, I had no idea how they were going to test a baby.  First they dilated his eyes with Cyclopentolate (I asked as I wanted to make sure they were not giving him atropine with his heart issues).  The orthoptist first used a series of blinking lights, toys and cards to check for muscular abnormalities.  I was happy to hear that at this point there are none, but he should be frequently monitored.  The opthomologist used her own brand of thrilling head gear and saw that he did not have cataracts (my pediatrician seemed to think he did, although she did not voice this to us) and that he did not have retinoblastoma.  The latter not being prevanlent in the DS community; the babies in our family are routinely tested as our 2-D Cousin was diagnosed at a young age.  Hers probably wasn't the genetic type, but you can never be too cautious. Happy results all around, we'll be back in 6 months to follow up.  Since the pediatrician only referred ONE of my twins, I have to ask to have Zoe checked. Poor Zoe, always the bridesmaid...

My Baby blues are good to go!

I shouldn't really say that as Zoe ends up getting more face time than Wyatt.  As the puker and screamer of the duo, she spends a great deal of not-so-quality time with dear old Mom and Dad.  It still astounds me a) how much she can throw up and still gain weight and b) how LOUD she is.  Recently, she's managed to connect her hand to her mouth and we thought "oh good, now she can calm herself that way".  No, sorry.  She's managed to find a way to put her hand in her mouth and make herself EVEN LOUDER.  Apparently that was what she was missing;  amplification.  I guess to offset that (and to ensure we didn't leave her in a basket on the neighbour's doorstep) she learned how to giggle this morning.  A cute little "hee hee hee" that goes with her face-splitting grin.  She is cute, I'll give her that.

Is that a smile? Not the full one, but one nevertheless...

Developmentally, they both seem to be right in the "six weeks adjustment" area.  There are certain things that she is better at, and certain things that he is better at.  He babbles and coos more often while she is better with the eye contact and specific noises.  I'm trying to get them both to grasp at toys and I'm encouraging them to spend more "tummy time" and lift themselves up.  Wyatt seems to be the one closest to rolling over at present and is spending more and more time awake, which is fantastic.  I can't tell you how encouraging it is to have his sweet little eyes locked on me for minutes at a time as we interact with one another. 

I'm doing much better these days as well.  We're getting a little more sleep on the whole as they can push that 1am feed to 2 or 3am on average and to 5am on a good day (they generally eat around 9 or 10 before bed).  The days that they sleep through the night are few and far between, but they are there, which means there is a light at the end of the tunnel for all of us.  Well, until they start teething... (shudder).  The hormones are still horrendous, but I think I've figured out how to ride them out for the most part.  Thankfully, caffeine has been put back on the menu (along with the occasional beer) in small, yet well timed doses.  I'm not sure if it's a side effect of the hormones or what but I can enjoy a little treat without the fear of PVC's.  Even the tiniest bit of caffeine, chocolate or alcohol would get my heart tripping up, but for now it seems ok.  I'd like to think my organs got together and lifted the sanctions on the holy trinity.  "Dood!  We have to give her something!"  I kind of overdid it on the chocolate a few weeks ago... my weight started to creep up again as I was self-medicating with the lovely stuff.  I am happy to report with the advent of more sleep (and getting out to Mother Goose), we are back on track and down to our pre-pregnancy weight again.  Yay!  It's nice to hear things like "I think you've lost weight since this morning".  :)

Now the trick becomes getting as much time and effort into them before I have to go back to work.  I would love to take the full year off with them but unfortunately I have to disagree with Jessie J here... it is all about the money.  Hubby will thankfully take the second half as I return in September.  At least I get to start them on some cereal and get Quinn back to school first.  Should be interesting as I will have to take a Medela break every four hours...

"Head and shoulders,  knees and toes..."   Right now I think we have all these things under control.  (Until the next crisis, that is.)  For now tho', I'll just keep plugging on.  Even the bad days have their good points; a little smile here, a little development there.  The laundry will always be there, the dishes will always need doing and the floor will always need to be swept. Our time together is flowing past at an alarming rate... You'll forgive me then, if I choose instead to gaze into two little sets of eyes; one blue and one brown, and listen to two little sweet voices babble and coo.  Eyes, ears, mouth and nose.

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 Part of the "Define Normal" Blog Hop at:  http://www.justbringthechocolate.com/define-normal/

Walking Softly

[Note:  This is one of the letters that I posted to my friends and family on Facebook when we received Wyatt's inter-utero AVSD diagnosis and learned that there was a 75% chance of him having a chromosomal abnormality, probably Down syndrome.  These are rough, these are raw.  They are painful... and totally didn't have to be if I had any understanding about what DS was in the first place.  It is these early days that prompted me to start Down Wit Dat... to educate and to effect change.  Down syndrome is not something that needs to be grieved.  Ever.  -Jxox]    

Well, today is a "special" day as my son would say. Today is the ultrasound in the high risk clinic where we scan my little Wyatt for any and all "soft" markers for chromosomal problems. These clues are known as soft simply because their presence isn't diagnostic, but rather potentially indicative at best. There are also a lot of ratios and probabilities to consider. To be honest, the math makes my head hurt.Once again, for those of you playing along: Trisomy 21 is probably better known to you as Down syndrome. We all generally have an idea of what this entails, but here's the Wikilink anyway:

http://en.wikipedia.org/wiki/Down_syndrome .

Trisomy 18 known as Edward's Syndrome. It has a very low survival rate. http://en.wikipedia.org/wiki/Trisomy_18 .

Trisomy 13 is also known as Patau Syndrome. It also has a very low survival rate. http://en.wikipedia.org/wiki/Patau_syndrome .


Quite a few of you have asked what some of the markers are, and I will do my best to provide an answer, if not a link that explains it clearer and more concisely than I would. So, saddle up and get yer learn on.

These markers are generally used early for screening purposes: 

ECHOGENIC INTRACARDIAC FOCUS

http://en.wikipedia.org/wiki/Echogenic_intracardiac_focus

Basically a mineral deposit in the heart that may or may not appear bone like. 88% are only in the left ventricle, 5% are only in the right, and 7% are biventricular. It is suggested by current research that the biventricular, right sided, and generally less popular types are more indicative of chromosomal abnormality

PYELECTASIS

http://en.wikipedia.org/wiki/Pyelectasis
Dilation of the kidney where the ureter meets it. This can happen on it's own, however in the presence of other markers, it become significant.

SINGLE UMBILICAL ARTERY

http://en.wikipedia.org/wiki/Umbilical_artery
There are supposed to be two arteries and one vein in the umbilical cord; the arteries take away the deoxygenated blood from the baby to the placenta. Alone, it is not indicative of chromosomal defects, yet it has been associated with renal and cardiac problems. Together with other markers, it increases the risk of finding a chromosonal problem.

ECHOGENIC BOWEL

http://www.ehow.com/about_5147504_echogenic-bowel-syndrome.html
This is the fetus' bowel showing up as bright as bone on the ultrasound. Alone, it has been associated with cystic fibrosis, infection, bowl malformation, intra-amniotic bleeding and intra-uterine growth retardation. Together wih other markers, it shows an increased risk for Trisomies 13, 18, and 21.

THICKENED NUCHAL FOLD

http://en.wikipedia.org/wiki/Nuchal_scan
Here we are with our friend the nuchal transparency again. Since this is done earlier in the pregnancy, I don't think it will be looked at today. One more thing of note: it was explained to me by a nurse very much in the know that since Wyatt and Zoe's were done much earlier than Quinn's, the results are a little more significant (ie: larger numbers on a smaller baby). Alone, it can also be indicative of congenital heart defects (which we knowWyatt has already), or it can be a flag for DS. There has also been associations with other abnormalities that are not chromosonal in nature (ie: skeletal, etc).

VENTRICULOMEGALY (MILD)

http://en.wikipedia.org/wiki/Ventriculomegaly
Dilation of the ventricles in the brain. Does occur on it's own, but incidence with Down syndrome (Trisomy 21) is very much increased. Can resolve on it's own as well, although unlikely.

CHOROID PLEXUS CYSTS

http://en.wikipedia.org/wiki/Choroid_plexus_cysts
Found on ultrasound between 14 and 24 weeks gestation. 50% of fetuses that have this have Trisomy 18; inversely 10% of those with Trisomy 18 will have this as the only marker. As far as I know, this has not been identified in our case.

ENLARGED CISTERNA MAGNA

http://en.wikipedia.org/wiki/Cisterna_magna
http://www.radswiki.net/main/index.php?title=Mega_cisterna_magna
This part of the brain collects cerebral spinal fluid. When dilated without the presence of ventriculomegality (but with the presence of other markers) it is indicative of Trisomy 18. It is also rarely seen in the presence of other, non chromosomal disorders.

These markers are very useful in later comprehensive ultrasound (that I will be having today):
http://en.wikipedia.org/wiki/Human_skeleton

SHORT FEMUR LENGTH

Useful in predicting Down syndrome. Also occurs with situations such as Fetal Growth Retardation.

SHORT HUMERUS LENGTH

See short femur length.

NASAL BONE

Absent or short nasal bones increase the risk of a Trisomy 21 finding.

CLINODACTYLY

http://en.wikipedia.org/wiki/Clinodactyly
A bending or kink in the fifth or "pinkie" finger towards the rest of the fingers. This is found in 60% of people with Down syndrome. However, it can be found isolated in the general population as well.

ROCKER FOOT

http://en.wikipedia.org/wiki/Rocker_bottom_foot
Basically the foot looks like a rocker on a rocking chair. This is generally found with Trisomies 13 and 18.

These markers that have NOT been established for practice (due to lack of research, mainly) but might be useful: 

BRACHYCEPHALY

http://en.wikipedia.org/wiki/Brachycephaly
A flattening of the head. Unreliable as there isn't enough variance between "normal" and Trisomy 21. More research is needed as there may be a link for Trisomy 18.

INCREASED ILIAC ANGLE

http://en.wikipedia.org/wiki/Human_skeleton
It has been noted that there appears to be an increased incidence in flared iliac bones in Trisomy 21. More research is needed in the general population.

SMALL EAR LENGTH
Infants with chromosonal abnormalities generally have small, low set ears. It's a bit tricky to see on an ultrasound, but ear length can be seen occasionally.

SANDAL GAP

This is a separation of the big toe and the next (as flip flops or thong sandals would do to your foot). 45% of children with Trisomy 21 (DS) have this although the statistics vary. It is also unsure whether this occurs in the regular, non chromosonally abnormal population.

Other findings that we (thankfully!) have not run across:

OMPHALOCELE

http://en.wikipedia.org/wiki/Omphalocele
A protrusion of intestines, liver, etc OUTSIDE of the fetus' body. Occurs with Trisomy 13 and 18.

CLEFT LIP/PALATE

http://en.wikipedia.org/wiki/Cleft_lip
Can occur with or without genetic involvement.

MENINGOMYOCELE

http://en.wikipedia.org/wiki/Meningomyelocele

POLYDACTYLY

http://en.wikipedia.org/wiki/Polydactyly
Extra fingers and/or toes.


And there are more, such as clubfoot, overlapping fingers, clenched fists, etc, etc, etc. I unfortunately do not have the statistics on these.

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Whew! That's a lot to absorb and I hope it helped. I hope the ultrasound brings us a little piece of mind as well as this is the stuff that keeps me awake at night. Once again, it doesn't always pay to be a nurse...
As a good friend of mine pointed out the other day "hang on to hope... that's what it's there for".

Trust me, we plan to.