Down Syndrome T21

The Ups & the Downs Part 1:

Yes, I know it is long and sort of reads like a research paper :oP
Okay, it is time for another one of my more serious posts. Part One is about Down Syndrome in general, the history, & types of DS and I hope that you take the time to read this very long post. (Tomorrow will include Part 2: common medical conditions, developmental milestones, and expectations). 

Disclaimer: The information was given to Andrew and me at our genetics appointment.Some of the information I already knew and others I did not. Please remember that these are just numbers and risks. Yes, some of these things freaked me out, but I just need to remember that Ellie Bear is not a number or a percentage but is a strong, brilliant baby who is already amazed us in so many ways. She is a super star as are other children with special needs.

The photo located on here show a Trisomy 21 karotype and is courtesy of the NDSS.You will need to click on the image to enlarge it.

Down Syndrome is the most frequently occurring chromosomal abnormality—approximately 1 in 800 LIVE births (1). Unfortunately many fetuses are aborted when it is discovered that they have DS so it may actually occur even more frequently. More than 350,000 people in the USA have DS (1).

So DS has been around for a very long time, but as with anything it took awhile for someone to actually get the news out there. Then of course they assigned their own name to the syndrome thus making them famous. Such was the case with Dr. John Langdon Down of England in 1866. Apparently he was the first person to recognize and accurately describe all of the symptoms. However centuries ago, there were pieces of artwok that depicted people with "Downs facies". I have not see these pieces of art but they apparently exist. My art major friends, where are you?
It wasn’t until 1959 when Dr. Jerome Lejeune (do not ask me to pronounce that) said that DS is a chromosomal condition consisting of 47 chromosomes instead of the typical 46. Andrew likes to think that Ellie was going for extra credit in utero. Our Bear-Bear is an over-achiever in training!
Ever hear of the Human Genome Project? Well that has caused a great many advances in health care. In 2000, a large team of extremely smart scientists identified over 300 genes located on the 21st chromosome. This includes genes for Alzheimers, leukemia, blood disorders, and other things that I never even learned about in NP school. Imagine having an extra chromosome with these genes on it. That would explain why Ellie and others might have a higher chance of developing some of these illnesses such as Alzheimer’s.

Okay, I know this is what everyone really wants to know since it has been asked of me by so many people. Did I get prenatal testing?
My answer is sort of. 

I did not get the blood test aka quad screen done. Most insurance companies do not cover it and it is not really accurate in my opinion. Plus, even if it showed a problem what would Andrew and I do? Nothing. Well actually I would worry and worry and worry some more. I did however have a 14 wk and 19 wk ultrasound. Everything was completely normal—even the nuchal fold which can be indicative of DS, Trisomy 18, and one other trisomy condition which I cannot remember right now. 

“It is important to note that screening tests are of limited value” (1, p. 9) 

The blood testing is often done in conjunction with an ultrasound. Remember I had the ultrasound. The quad screen has high percentages of false positives at 8% (just think of all the poor babies that were aborted who were actually normal and those who were with DS. Ellie Bear!) and false negatives at 40% (think of all of the stress it causes the parents throughout the pregnancy). The quad screen detects about 60-65% of all incidences of DS (1). 

Types of DS:
1.Mosaicism. This is where some of the cells have 46 chromosomes while others have 47 chromosomes with the 47th being #21. This is thought to be genetic and makes up on 1-2 % of DS cases.
2. Translocation is where part of the 21st chromosome breaks off and attaches itself to another chromosome.
3. Trisomy 21. This makes up 95% of DS cases. This is actually the one that I am going to focus on. This is where every cell has 47 chromosomes with the extra being #21.
Dr. Immeken was adamant that this was no one’s fault. This was something that I really needed to hear. Trisomy 21 occurs at conception (3). While most of the time it is the egg that might contribute the extra chromosome, it can be the sperm (3). I like to think that Ellie is 51% me and 49% Andrew. That being said, when she is naughty, I might claim she is more Andrew than me. . .

1. National Down Syndrome Society. (unknown date). “Down Syndrome”. p. 1-16.
2 American Academy of Pediatrics Committee on Genetics. (2001). “ Health Supervision for Children With Down Syndrome”. Pediatrics 17 (2) p 442-449
3. Dr. Ladonna Immken. (Dell Children's Hospital). Personal CommunicationNovember 11, 2009

The Ups & the Downs Part 2:

Okay, now onto Part 2 of this 2 part installment. Why am I torturing you with medical information in a research paper format you might ask? Or maybe you do not care which is absolutely fine too. It is because Andrew and I are frequently asked some of these questions. . .well not about the history of DS per say, but about everything else. Rather than having to constantly repeat everything, it is just easier for us to post it on the blog.

Disclaimer: Same as yesterday’s. Please remember that these are just numbers and risks.Yes, some of these things freaked me out, but I just need to remember that Ellie Bear is not a number or a percentage but is a strong, brilliant baby who is already amazed us in so many ways. She is a super star as are other children with special needs.

Note: I forgot to include a reference at the end of Part 1 on the previous post. I have included it on the bottom of this post. The table at the top of this blog is from the NDSS pamphlet or reference #1.
Development: Please refer to the table above. There are many misconceptions about DS. Your child will never walk. You child will never read or write. Your child will not talk. Your child will never tell time or be able to feed herself. , Uh no! Andrew and I and friends have heard all of the statement above. Unless there are severe orthopedic problems, severe mental retardation, or other health issues, children with DS will development just like other children. They will complete the same milestones in the same order, but at their own pace. So while most children may walk by 14 months of age, Ellie might walk at 18 months-2 years. She WILL walk.

Early Childhood Intervention helps these children approach these milestones via physical therapy (PT), occupational therapy (OT), and speech therapy. That is why Ellie Bear is already in ECI. It is also why I torture her with tummy time and the side lying position.

Medical Conditions Associated with DS: I will do this in list form since it is easier.Some of these are rather scary, but those tend to be rare. Ellie is frequently or will be frequently screen for these conditions. This is why it feels like we live in specialists’ offices. It is better to rule out or catch early any of these conditions. The screenings are much more frequent in the first year of life and after that may be performed yearly.

Some of these issues are associated with the extra chromosome such as Alzheimer’s Disease and then there are conditions related to the hypotonia (low tone) such as constipation and poor feeding secondary to a poor suck. Ellie clearly does not have the poor feeding as seen by her excellent weight gain thus placing her at the 95% on the DS Growth Chart.

Hypotonia—Okay, I do not have an actual percentage, but apparently almost all children with DS have it. It is one of the diagnostic markers and they a lovingly compared to a “sack of potatoes” as per Dr. Del Angel at the Dell Down Syndrome Clinic. Ellie Bear has good tone. It is not 100% normal but she has very mild hypotonia. This is fabulous because many of the developmental delays and some health conditions (ie reflux, constipation, delayed rolling over, speech delays) are all related to poor tone. Right now, our biggest goal is to maintain this tone.

Mental Retardation (MR)—this can be mild, moderate, or severe. Severe (IQ <30) style=""> I do not have percentages on this.

Celiac Disease—12% (1,4) She will be screened at 6 months (2).

Thyroid Disorders—15% (1,4) Most common is hypothyroidism which is easily corrected with thyroid hormone supplements. Ellie will be checked at 6 months, 12 months, and then yearly (4).

Obstructive Sleep Apnea—45-70% (1,4). This is the result of the narrow palate and large tongue. The adenoids also tend to be abnormally large. Ellie actually has a normal palate, but I am not sure about the adenoids).

Hearing Loss—50-75% (1,4). Some of this can be related to frequent ear infections or severe narrowing of the ear canals. Ellie’s left side is narrow, but the right side is normal.She also passed her newborn hearing screen.
Also, she loves to hear me sing so I know she can hear, but she must not realize that I sing off-key

Eye Problems—60% (1, 4). This especially includes cataracts at a young age and lazy eye.

Pulmonary Infections--Increased risk for respiratory infections such as pneumonia. Dr. Immken explained that they had lower immune systems and narrow airways thus making them more susceptible to these respiratory infections (3). My Father recalls my Aunt coming down with bronchitis and pneumonia. Rather it was because of the DS or because she lived in a smoking home, I do not know.

Autism—7-10% (3,4) + genetic predisposition makes the risk higher for Ellie

Leukemia—1-2% (1,3,4) Okay this one scares me even though the percentage is so low.The age is typically between 2-5 yo (3,4). However, children with DS typically respond better to treatment than those who do not have DS (4). See, a benefit to having an extra chromosome.

Heart Problems—40-60% (4) According to Dr. Holt, an AV canal and pulmonary hypotension are the most common. Fortunately our little trouper only has a PFO or a tiny little hole between the upper two chambers of the heart. Remember, it will most likely close on its own but if not, she cannot go deep sea scuba diving or fly fighter jets. Hum. Heart problems requiring surgery is what often causes a more severe developmental delay in these children because they spend their early months working so hard to stay alive rather than developing muscle tone. You cannot exactly do tummy time while sedated and on a breathing machine.

Alzheimer’s Disease—Okay I do not know the percentage but it typically sets in between 35-50 years of age (4).

Epilepsy or Seizures—5-10% (4) Children with DS typically respond better to the medications than children without DS (4). 

Atlantoaxial Instability—15% (2, 4). This is where there is increase flexibility of the 1sttwo vertebrae of the neck. A problem arises if the spinal cord becomes pinched between these two vertebrae thus causing walking problems, gagging, and pain. Ellie with get neck X-rays around the time she starts walking which is most likely around the age of 2 or 3 (1,2,3,4).

Now again, this list is extremely scary and overwhelming. I about cried, okay I did cry, but then I took a step back. Ellie is a healthy, thriving little baby. We just need to be aware, but not panicked over these potential issues she could develop. My Aunt didn’t/doesn’t have most of these. Many of my patients might have just needed glasses or some assistance with speech and feeding. Even without DS, our daughter could develop any of these issues. Well, you know me, I still obsess and worry.

Expectations: You can never shoot too high. Today, many people with DS are holding down jobs, attending some college, living independently. It is all dependent on the individual. The key is to treat Ellie like any other child. Offer her every opportunity so that she can discover what she likes, doesn’t like, and what she excels at. Ellie just might surprise us.

1. National Down Syndrome Society. (unknown date). “Down Syndrome”. p. 1-16.
2 American Academy of Pediatrics Committee on Genetics. (2001). “ Health Supervision for Children With Down Syndrome”. Pediatrics 17 (2) p 442-449
3. Dr. Ladonna Immken verbal consultation November 11, 2009
4. Skallerup, Susan J. (2008). “Babies with Down Syndrome: A New Parents’ Guide” 3rd Edition. Woodbine House: BethesdaMD

A mask for kids with Down syndrome

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