Friday, October 14, 2011

Down Syndrome Awareness Month ~ Medical Concerns

This year / month marks 30 Years of Down Syndrome Awareness Month! Before we received Spencer's diagnosis, I knew very little about Down syndrome. So I'm taking the opportunity of my blog and this month to give you some little snippets of information. Once again, I tried not to write a book.





This week I'd like to tell you about the medical problems that can affect babies and children with Down syndrome. Again, these issues will not all affect every person with Down syndrome, but they are all possibilities. Our son will likely get a grab-bag selection of issues. We're hoping for as few as possible!

I considered breaking this post up in to a couple of posts, but I wanted you to see the overwhelming massiveness of this list. If this is more information that you really want to read, just read the text in bold and you will get the gist of the medical problems and the treatments used in the worst cases.

You can also skip to the bottom for my overall thoughts on the list, including treatments.

Heart Problems

40-60% of infants with Down syndrome are born with some sort of heart defect. On a personal note, we've had an echocardiogram (via ultrasound) on Spencer and so far, everything looks great. Some heart defects cannot be detected prenatally, though. The defects are usually in the walls between the upper or lower chambers of the heart. Some of these defects will close on their own within a few months. Other, larger, defects require surgical repair. There are other possible heart defects, but they are far less common.

Some heart problems can be found through physical examination, but others require a specialist. It is recommended that babies have an echocardiogram soon after birth.

Gastrointestinal Problems

Structural Defects



The GI tract may not form properly during pregnancy. Babies can experience a complete block at some point in this system. This type of gastrointestinal problem requires surgical correction.

Reflux



Gastro-esophageal Reflux (GER or "movement of stomach contents back up the esophagus") is a common condition in infants and children with Down syndrome. Do you recall last week I mentioned low muscle tone? Well the GER is believed to be caused by decreased muscle tone where the esophagus meets the stomach. The larger concern here is that reflux can cause chronic indigestion. Severe reflux can result in milk in the airway or lungs. In the worst cases (which would include weight gain issues or recurrent lung infections from reflux), surgical correction is required. The procedure is called fundoplication and involves tightening the upper part of the stomach around the lower part of the esophagus.

Constipation



Constipation is a very common problem among babies with Down syndrome. This problem is also thought to be from low muscle tone, this time in the intestinal tract, of course. Basically, the waste just moves more slowly, so more water is absorbed by the colon. Tada, constipation. Sometimes this problem can be treated through diet, but many babies must routinely be treated with stool softeners. It is important not to let the body become dependent upon these drugs.

Hirschsprung Disease



Babies with Down syndrome who are chronically constipated may have Hirschsprung disease. It is more common in babies with Down syndrome than other babies and is due to the lack of nerve cells in the colon just above the rectum. Babies with Hirschsprung disease will typically not have a bowel movement in the first 48 hours after birth. Hirschsprung disease is detected using a barium enema and x-ray. If abnormalities are found, a surgeon performs a biopsy of the rectum to look for nerve cells. Once this diagnosis is made, the portion of colon lacking nerve cells must be surgically removed.

Traditionally this surgery was done in two parts, the first involving placement of a colostomy bag for several months. The procedure is more commonly done in one surgery now. The procedure solves constipation, but children that must lose long segments of colon may require special diets for the rest of their lives to avoid malnutrition.

Celiac Sprue, Small Bowel BiopsyCeliac Sprue, Small Bowel Biopsy
Photo Credit
Celiac Disease



I hear about gluten free diets all the time these days, especially in my hippie circles. Celiac disease happens when the lining of the small intestine becomes damaged from exposure to gluten. Gluten is the protein found in wheat, barley, and rye. The small bowel becomes unable to absorb water and nutrients. This causes a bunch of other symptoms.

Celiac disease is not terribly common in children with Down syndrome, but they do have a higher risk of developing it. Babies are not at high risk because they don't usually eat a lot of these grains over a period of time.

This disease is diagnosed by performing a biopsy. This is actually done by going down the throat, while the child is under sedation. Blood tests can detect the risk of Celiac disease. It is treated by completely removing all offending foods from the diet.

Umbilical HerniaUmbilical Hernia
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Umbilical Hernias

This is not a dangerous condition. Sasha had an umbilical hernia and it went away by her first birthday. If an umbilical hernia does not go away by the second birthday, it can be closed using a simple surgical procedure. Surgery is not, however, medically necessary. An umbilical hernia is a gap in the muscles, sometimes causing the belly button to protrude.

Epilepsy

Children (or adults) who have multiple seizures not associated with fevers are diagnosed as having a condition known as epilepsy. It affects 5-10% of people with Down syndrome. Actually, true diagnosis is made using an EEG (electroencephalogram). Children are usually diagnosed and treated by a neurologist. Epilepsy seizures are most common in the first two years of life and then resurface again in the late twenties.

Children with Down syndrome generally respond better to anti-seizure medication than children without Down syndrome. Babies with Down syndrome may experience different types of seizure, but any baby experiencing a seizure for longer than 5 minutes should be seen by a doctor immediately.

Orthopedic Problems

Atlantoaxial Instability



Atlantoaxial Instability (AAI) is too much movement between the first and second vertebrae in the neck. This condition affects about 15% of children with Down syndrome. The main concern with AAI is the increased risk of pressure on the spinal cord. AAI with this "impingement" doesn't cause any symptoms. There is a long list of symptoms resulting from impingement. Children showing any of the symptoms should be evaluated for AAI immediately. AAI is treated with surgical fusion of the two vertebrae.

Children with Down syndrome are currently screened (using x-rays) at age 3 for AAI and again around 10-12 years. If AAI is found, an MRI is then done to check for any spinal cord injury and determine whether surgery is necessary.

Other Orthopedic Problems




  • Scoliosis - curvature of the spine, usually treated with a brace, but may require surgery if lung or heart function are affected

  • Instability of the hips caused by the thigh bone becoming too loose from the joint with the pelvis. This may require casting or surgery to correct.

  • Dislocation of the patella (the kneecap moves too far to the side) is painful. Special bands can be placed about the knee to keep the patella in place or the kneecap can be surgically tacked down. I personally had problems with my own patella, but was treated with physical therapy after other knee problems were treated surgically.

  • Foot and ankle problems are usually treated by an orthopedist or a podiatrist. Flat feet, for instance, are very common in people with Down syndrome due to relaxed ligaments. This condition can be painful. Feet might also turn in or out at the ankles. Feet may have bunions, which are lumps of bone or tissue at the base of the big toe. The big toe will then often point inward toward the second toe.


  • Ear, Nose, and Throat Problems

    Upper Respiratory Infections



    Children with Down syndrome have smaller midfacial areas. The ears, nose, sinuses, mouth, and throat are affected. This can mean more colds and sinus infections. The Eustachian tubes are smaller, too. This may cause more ear infections than experienced in other children. Some kids with Down syndrome also have decreased response to bacteria and viruses, which can also mean more respiratory infections. These infections are more common, but more serious upper respiratory infections (like pneumonia) are not more common. Just like with all children, these infections decrease as the child gets older.

    Sleep Apnea



    Obstruction of the upper airway by large adenoids or tonsils is another common problem for children with Down syndrome. This can cause mouth breathing as well as obstructive sleep apnea (OSA). OSA occurs in up to 45$ of children with Down syndrome. Sometimes parental observation, then a careful history and exam can lead to an OSA diagnosis. Otherwise, a sleep study (polysomnography) may be required. OSA can be a very dangerous condition and is usually treated by removing the adenoids and tonsils surgically. Some children require more extensive surgical procedures.

    Hearing Loss



    About 50-60% of children with Down syndrome suffer some degree of hearing loss. This can be due to fluid in the middle ear for a period of time or disruption of sound transfer from inner ear to auditory nerve. Children may even experience both of these types of hearing loss.

    Hearing tests are routinely performed on all newborns in the US these days (using an OAE or otoacoustic emission test), but children with Down syndrome should continue to be tested annually until they reach their teen years. Hearing loss can delay speech development, so you want to know as early as possible if there is a problem.

    Chronic fluid problems in the middle ear or chronic ear infections should be treated aggressively and can be improved with placement of tympanostomy tubes. These small plastic tubes (placed surgically by an ENT) help equalize the air pressure on both sides of the eardrum, preventing the buildup of fluid.

    Croup



    Recurrent croup is another common airway problem in children with Down syndrome. Croup is inflammation and swelling of the trachea and larynx. This results in a "barking cough." Croup is caused by virus or allergies. Croup is more common in children with Down syndrome because if their smaller airways. Mild croup can be treated with antihistamines and a humidifier. Severe croup may require treatment with steroids. Babies or children with barking cough should see a doctor.


    Blood Problems

    Leukemia



    Leukemia occurs 10-30 times more often in children with Down syndrome. Most of these cases occur in the first five years of life. These children are treated with chemotherapy. Children with Down syndrome respond better to chemotherapy than other children.

    Transient Leukemia



    Newborns with Down syndrome are at higher risk for transient leukemia. This condition resembles leukemia, but goes away completely on its own in a few weeks or months. Possibly 10% of newborns with Down syndrome show signs of transient leukemia. These children have a higher risk of developing leukemia within the next years.

    High or Low Platelet Counts



    Thrombocytopenia (low platelet count) is more common in newborns with Down syndrome. Transfusions are rarely necessary, but newborns with thrombocytopenia should be monitored for the development of transient leukemia. Some infants with Down syndrome have an increase in platelet count (thombocytosis), but this condition carries little risk and goes away on its own.


    Thyroid Problems

    Thyroid disorders are very common in people with Down syndrome.
    Hypothyroidism



    Hypothyroidism (low thyroid hormone levels) is the more common thyroid disorder experienced in people with Down syndrome and can be found at any age. The symptoms are subtle, especially in people with Down syndrome, so it is easy to miss. Blood tests for hypothyroidism are recommended at 6 months, one year, and then annually for the rest of their lives. Treatment for this condition is thyroid replacement hormones taken daily for the rest of their lives.

    Hyperthyroidism



    Hyperthyroidism (high thyroid hormone levels) is treated with medication or by removing the thyroid completely. If removed, the child will then need thyroid replacement therapy.


    Diabetes

    Type 1 diabetes is more common in children with Down syndrome. This is not common in the first year of life for children with Down syndrome, but can show up at any age.

    Baby after Cataract RemovalBaby after Cataract Removal
    Photo Credit

    Eye Problems

    Cataracts



    Cataracts are abnormalities (opacities, actually) of the lens of the eye. They can be present at birth and are the earliest eye abnormality seen in Down syndrome. All newborns should be carefully examined for the presence of cataracts. If found, cataracts are surgically removed and glasses are worn for any remaining vision problems.

    Blocked Tear Ducts



    Blocked tear ducts tend to cause the eye(s) to tear up frequently and can cause frequent eye infections. A doctor can show you how to massage the tear duct to remove the blockage and will also prescribe antibiotic eye drops for infection. If the problem does not resolve by 6-9 months of age, the ducts may need to be opened by an ophthalmologist with a small probe. Tyler, on the other hand, had overactive tear ducts as a small child.

    Strabismus



    Strabismus is when the eyes do not work together (which should happen by about 3 months old). If untreated, strabismus can cause other vision problems. The condition may be treated with an eye patch to help equalize vision. If there are large deviations, surgery on the eye muscles is needed to correct them.

    Blepharitis



    Chronic infection of the edge of the eyelid (known as blepharitis) sometimes occurs in children with Down syndrome. The condition is treated with antibiotic ointments, a special eyelid scrub, and occasionally steroid drops.

    Nystagmus



    Nystagmus is repetitive, involuntary movement of the eyeballs. Babies and children with nystagmus should be evaluated by an ophthalmologist.

    Visual Acuity



    Nearsightedness, farsightedness, and astigmatism are very common in children with Down syndrome. My first two children and myself have vision problems, so Spencer will also have this genetic predisposition to the same. Children with Down syndrome should have their first vision evaluation around 6 months of age and then annually for life. These acuity problems are simply treated with glasses.


    Dental Concerns

    Children with Down syndrome do not get their teeth in the same order or on the same timetable as other children. Teeth usually come in much later than in other children. Cavities are not common in children with Down syndrome, but they are at a higher risk for gum disease. Children with Down syndrome should see a dentist familiar with the problems associated with Down syndrome by their second birthday.

    Skin Problems

    Newborn Period



    Acrocyanosis (blue hands and feet) is common in newborns with Down syndrome. Blueish mottling of the rest of the skin is also common. Neither of these conditions is harmful. The mottling may persist for several months and is actually normal in all newborns.

    Chronic Skin Conditions




  • Dry Skin

  • Chelitis - the presence of cracked, red, scaly skin at the corners of the mouth and lips. Bacterial infection or yeast can complicate chelitis. This problem is treated with a mild steroid cream. Infections should also be treated when present.

  • Atopic Dermatitis - also known as eczema, this is red, scaly, itchy skin. Treatment is by steroid creams and oral antihistamines.

  • Seborrhea - similar to eczema, seborrhea usually looks greasy and scaly. It appears on the scalp and eyebrows. Shampoos including tar compounds or salicylates are used to treat seborrhea on the scalp. Sometimes antifungal preparations can also be helpful.

  • Infections



    Folliculitis (inflammation or infection of hair follicles of the skin) appears as small red bumps or yellow pustules. They can happen anywhere on the body, but are most commonly found on the buttocks. Folliculitis is well-treated with topical or oral antibiotics and antibacterial soap. If the infection is deep, boils and abscesses are produced. These require oral antibiotics.

    Alopecia



    Alopecia areata is patchy hair loss not due to infection or drugs. The bald patches have distinct borders and the rest of the hair does not thin. It is more common in children with Down syndrome, but is still uncommon. The hair usually grows back (partially or completely), usually within a year.


    Immunizations

    Everything I've read so far suggests that children with Down syndrome follow the normal routine for immunizations. Down syndrome can cause decreased immune function, so annual flu vaccines are also recommended. That said, I have not had my last two children vaccinated against anything and am not likely to have Spencer vaccinated, either. This is a very personal decision and each parent must make the best decision for their own children.



    I am not a doctor of any sort. This is information I gathered (mostly from Babies with Down Syndrome) and paraphrased. If you have any specific concerns, please ask your own pediatrician / doctor.

    Not only are some of these conditions scary (leukemia?! hello?!), but often times the treatment sounds scary. One surgery is bad enough, but imagine if your child required surgeries for multiple health conditions. That is the picture I wanted to paint for you here.

    This is also one way to show why I feel I had a new hobby thrust upon me. That may sound like I'm making light of the situation, but I assure you I am not. I have put together a binder with tabs for each of these categories. I have already been stocking the binder with Spencer's medical records (such as the echocardiogram). I have a "To Do" section in the front where I can write reminders of upcoming concerns.

    None of this even touches on the physical therapy children with Down syndrome need. There are several different types and I plan to have a secondary binder for that. I already carry the first binder with me to medical appointments.

    9 comments:

    1. You are such an incredible mama to Spencer already! I can't believe how much you have learned, and it's so great how you are organizing this information and his future medical records already.

      I had no idea about so many of these potential problems, and I used to teach kids with Down's Syndrome. I wish with all of my heart that Spencer doesn't have any of the challenges you described, but if he does, I know he couldn't have a stronger, more loving family to support him.

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    2. Thank you so much Rebekah & Charise!! I was nervous that the post would be intimidating from the mere length of it, but there was just so.much.information!

      It is a daunting list, to be sure. I feel just about as prepared as I can be and now there's not much left to do but wait. We've even changed which hospital at which we plan to deliver because they have a Level II nursery whereas our other choice only had a Level I. We definitely want to reduce the risk of a transfer! Though really, we hope to not need a NICU at all! Lots of babies with DS don't go to the NICU!

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    3. Thank you for sharing everything you're learning, Jorje. This is valuable information for any parent. I really had no idea of the extent of the medical concerns you need to be aware of. I'll be thinking of you as Spencer's arrival nears and sending lots of "no NICU!" vibes.

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    4. Holy cow! That's a lot to learn about in such a short time. The good thing is that you'll be prepared with the knowledge to look out for these medical problems and know what the treatments may be.
      Thank you for these "lessons" - I'm learning a lot.

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    5. This is amazing, Jorje! I'm definitely keeping this on hand as a resource for anyone who needs more info. I love that you were able to present it thoroughly but in a summary form.

      And I will be wishing along with you that you won't need to know as much of this as you've researched! It's great to know Spencer's heart looks good so far.

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    6. I would just like to add some of the things that I have learned since adopting my 6month old son with Downs Syndrome. I was told that the first dental visit should be at six months just like all other children. I don't remember seeing anything about physical therapy, occupational therapy and speech therapy.

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    7. @troolyblessed29 ~ I'm sure there are some variations of information. I'm not sure why a child with DS would need to see a dentist at 6 months, though, since teeth so rarely cut through that early. Actually, my dentist's office wasn't even sure about seeing my own daughter yet and she's already 2yo. So opinions even for average children definitely vary.

      I have read about different sorts of therapy, but not quite so much associated with newborns. I actually don't recall the details as much there, but perhaps it is on more of an as-evaluated sort of need.

      Have you read Babies with Down Syndrome? It is an excellent book! If you have another resource to recommend, I'd be very interested! I also offer from my resource pages: Sunday Surf: Down Syndrome.

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    8. I have worked with down syndrome adults in a group home setting and all the medical problems can be taxing but usually their personalities shine through brightly to make you feel like there is nothing to it. Behavioral issues in my job were the issue. Some of them had the worst behavior and habits because their parents never said a cross word to reign in those habits. The best client I had was the one with the worst medical conditions but was sweet and always helping without being asked.

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