What are the Medical Problems Associated with Down Syndrome?

 By: Chaira Kozma M.D., Babies with Down Syndrome

Edited by Karen Stray-Gundersen

Will my child have medical problems?

Children with Down syndrome are at an increased risk for a wide range of medical problems. These potential problems include congenital heart defects, increased susceptibility to infection, respiratory problems, gastrointestinal disorders, and childhood leukemia. However, not every child with Down syndrome develops health problems and most of these health problems are now treatable.

What are congenital heart defects?

A congenital heart defect is a heart problem that is present at birth. Between 30 and 45 percent of babies with Down syndrome are born with heart defects. These defects vary from mild defects which may disappear with time to severe defects which will require major surgery. In most cases a cardiologist can detect a heart defect soon after birth.  The most common congenital heart defect is Atrioventricular (AV) septal defect. This problem occurs when the valves separating the atrium (upper chamber of the heart) from the ventricle (lower chamber of the heart) leak allowing blood to flow in the wrong direction. This problem is quite serious but can be corrected with surgery in infancy. The second most common problem is a hole in the wall of either of the ventricles (Ventricular Septal Defect or VSD) or between the atrium (Atrial Septal Defect or ASD). Small holes do not cause any strain on the baby and often close by themselves. Larger holes may require surgery.  Babies with heart defects sometimes show symptoms. These symptoms can include feeding problems, a change in color during feeding, poor growth, and labored breathing.

What endocrine problems can occur?

The endocrine system is made up of the glands that produce and secrete hormones. These include the thyroid, the pituitary gland, the adrenal glands, the pancreas and many others. The most common endocrine problem in children with Down syndrome involves the thyroid. The thyroid, located in the throat, is the largest endocrine gland in the body. The thyroid secretes a wide array of hormones that regulate metabolism, heart rate, and growth.   The most common type of thyroid problem both among the general population and children with Down syndrome is hypothyroidism. Hypothyroidism means that the thyroid is not producing sufficient amounts of hormones. Hypothyroidism can be a serious problem if left untreated so it is important that children with Down syndrome be tested at birth and then on a yearly basis to insure that the thyroid is working correctly. Untreated, hypothyroidism can lead to slow growth, skin disorders, blood disorders, sleep disorders, learning disorders, and feeding disorders. Fortunately, hypothyroidism can be easily treated with an oral medication, L-thyroxine. This is an inexpensive medication which serves to replace the missing hormones.   Hyperthyroidism is a condition where the thyroid produces too much thyroid hormone. One form of this condition is Graves disease. Symptoms include nervousness, irritability, increased appetite, increased perspiration, disturbed sleep and an enlarged thyroid. This condition is treated with medication to block the production of thyroid hormone. In some cases the thyroid may be removed or destroyed with radioactive iodine. In this case, L-thyroxine would be used to replace the thyroid hormones.

Children with Down syndrome may have a shortage of growth hormone (hGH) which is produced in the pituitary gland. hGH replacement is fairly controversial, but a child with reduced levels of hGH may be a candidate for hGH replacement therapy. It is quite common for children with genetic disorders such as Down syndrome to be short in stature and special growth charts have been developed for children with Down syndrome. However, some doctors have come to believe that children with Down syndrome should be charted on the normal growth charts. If a child fails to grow on these charts, it may be a sign that there is an endocrine problem such as hypothyroidism or hypopituitarism.

What skin problems can occur?

Infants with Down syndrome tend to have very soft skin but as they grow older their skin can become dry and coarse. A common problem for children with Down syndrome is atopic dermatitis (also called atopic eczema). This is a condition where the child has a dry, red, and scaly rash usually on the cheeks, arms, legs, or trunk. This condition is actually found in up to 10% of all children but is more common in children with Down syndrome. No permanent cure exists but the condition can be controlled. The skin should be treated with moisturizers and mild soaps or soap-free cleansers (such as Cetaphil) should be used to clean the skin. More severe cases should be treated by a dermatologist who can prescribe topical corticosteroids. Some parents have reported successfully treating atopic dermatitis by eliminating dairy and gluten (found in wheat) products from the diet.  Alopecia Areata (AA) is an autoimmune disease involving the hair and nails. Although rare, it does tend to occur more often in people with Down syndrome. It is believed that AA is an autoimmune reaction where the body attacks its own hair follicles. A person with AA usually develops bald patches although generalized thinning or complete baldness may also occur. In most cases, children with AA may have a few small patches that disappear without treatment within one year. AA can be treated with topical steroids or topical irritants but in young children these treatments are usually not practical.

What gastrointestinal problems can occur?

The gastrointestinal (GI) tract consists of the parts of the body that take in food, extract the nutrients, and dispose of the waste. Gastrointestinal problems tend to be more common in children with Down syndrome than in the normal population, however most of these conditions are rare. Gastrointestinal problems fall into two basic areas: 1)  anatomical anomalies - the structure of the organs is abnormal 2) functional disorders - the organs do not work the way they should. 

The most common anatomical anomalies are: 

- aganglionic megacolon- Also called Hirschsprung's disease, this is a condition where parts of the bowel have no nerve cells. Children with this condition can become extremely constipated. Severe cases can be life threatening if left untreated. Hirschsprung's is normally treated by surgically removing the part of the bowel that does not function correctly.

- annular pancreas- This is a condition in which the pancreas is ring-shaped and constricts part of the intestine. Depending on the amount of constriction, this can be a serious medical emergency. This condition is normally treated surgically.

- duodenal atresia and duodenal stenosis - Both of these conditions involve a narrowing of the small intestine the difference being the amount of the narrowing. Depending on the amount of narrowing, surgery may be required. In less serious cases, the condition may be managed through diet.

- imperforate anus - This is a condition in which the anus (the external opening of the colon) is blocked. This condition is normally treated with surgery within the first few days after the baby is born.

- tracheo-esophageal fistula - This is a condition where there is an opening between the windpipe and the esophagus. Some children have this condition without developing any problems. Others may require surgery to close the fistula to prevent fluids from travelling from the esophagus into the trachea.

- pyloric stenosis - This is a narrowing of the pylorus, the junction where the stomach empties into the small intestine. This is treated with a simple surgical procedure that usually works very well.

It is important to understand that any of these conditions can occur in any child although they do tend to be more common in children with Down syndrome.

The most common functional disorders are: 

-  esophageal motility disorders and gastro-esophageal reflux. Children with Down syndrome often have problems with reflux. Reflux does not mean that the child spits up during or after a feeding. In most cases, this simply means the child has swallowed air. Reflux can occur because the esophagus is having trouble propelling food into the stomach or it may occur because the stomach is emptying too slowly. Persistent reflux may cause serious problems since the stomach contents are highly acidic and can damage the esophagus, larynx, or trachea. If the child aspirates stomach acids, they may gag or cough just after feeding. Reflux is normally treated with medicines to reduce stomach acidity and to help move food through the stomach faster. In many cases, the child may grow out of the problem.

- malabsorption disorders - Children with Down syndrome sometimes have a condition called celiac disease in which the intestines lose the ability to absorb nutrients. This condition is normally treated by eliminating gluten from the diet. There are other malabsorption disorders but children with Down syndrome are no more likely to have these conditions then the rest of the population. Some children with Down syndrome may have trouble absorbing certain vitamins. If the child is not growing well or has an increased number of ordinary infections that are difficult to cure, they may have a vitamin absorption problem. A blood test can help to determine if this is a problem.

What respiratory problems can occur?

Children with Down syndrome are at risk for respiratory infections. Some respiratory infections are caused by a weak cough which is sometimes seen in children with hypotonia. Other causes of respiratory infection are heart problems leading to fluid in the lungs, regurgitation of food from the stomach into the lungs, and weakened immune systems. Sleep apnea, temporary stopping of breathing during sleep, is also sometimes seen in children with Down syndrome. Sleep apnea is often caused by the adenoids or tonsils being too large for the size of the mouth. Symptoms of sleep apnea include restlessness, noisy breathing, and snoring. This can be a serious problem since the baby may have reduced oxygen levels to the brain. Treatment can include removing the tonsils or adenoids.

What orthopedic problems can occur?

Children with Down syndrome experience a wide range of orthopedic problems due to their loose ligaments and hypotonia. These problems include scoliosis (side-to-side curvature of the spine), joint dislocation, hip and knee cap instability, weak ankles, and problems with the feet including pronation and flat feet. Some of these conditions may not produce any symptoms while others may require surgery depending on the severity. As many as 20% of all children with Down syndrome may have a weakness or instability in the spinal column in the neck. This is a condition called atlanto-axial instability. This condition, if not diagnosed, can lead to spinal cord damage which can lead to paralysis or death. It is important that children with Down syndrome be screened for this condition. Screening is done with both a neurological exam and with x-rays. Normally, the screening is done between the ages of 4 and 6. Treatment will depend on the amount of instability present and the distance separating the vertebrae. If the condition is severe enough, surgery may be required.

What problems with vision and hearing can occur?

Close to 70 percent of children with Down syndrome will have some type of vision problem. These problems include farsightedness, nearsightedness, strabismus (crossed eyes), amblyopia (lazy eye), astigmatism, cataracts, and blocked tear ducts. All of these problems can be treated if detected early. All children, not just children with Down syndrome, should have their eyes tested.   

Some studies suggest that as many as 60 percent of children with Down syndrome experience some type of hearing loss. The development of speech depends on hearing so it is important that children be tested to determine if they are experiencing hearing problems. Hearing loss can be treated with antibiotics to treat infections, Tympanostomy tubes (implanted in a minor surgical procedure) to remove fluid from the inner ear, or, if necessary, hearing aids. With early detection, children with Down syndrome should be able to hear normally.

Medical Procedures: Pearls for Prevention

TVDSA Thanks Dianna Brown 

 for Over 25 Years of Service 

In the past 29 years since the Treasure Valley Down Syndrome Association was organized as a parent support group, there has not been a more ardent supporter than Dianna Brown. Dianna has served as a board member for over 25 years. She first joined our group when she adopted her daughter Melissa. In the early years of TVDSA, Dianna volunteered to help with any job that needed to be done. Her skill in writing soon became her venue for uplifting all who were on our mailing list as she served as editor of our newsletter for many years. Dianna wrote, edited, printed, and mailed our bi-annual newsletter. Many times, when resources for TVDSA were limited, she donated her own funds to help ensure that every family who wanted a newsletter received one. 

Dianna also served as a parent contact answering every letter, e-mail, or phone call from parents who needed information or just a listening ear. She has been totally unselfish with her time and has always made herself available to reach out to others. Dianna and her husband Gary even hosted our annual summer family picnic at their home for several years when they lived in Nampa. 

Dianna's writing talent was again a great resource when TVDSA applied for grants. She spent many hours writing grants to help us access funds in the early years of our group. When TVDSA applied for our non-profit status, Dianna was very involved in writing the by-laws and researching what we needed to do to comply with the state and IRS rules. 

While Dianna served as our membership chair for at least the past decade, she faithfully devoted many hours to ensure the accuracy and privacy of our mailing list. She welcomed new people to our group, and constantly worked to update the list of TVDSA friends who have been in contact with us since the beginning. Protecting and tracking the contact information for the people who make up TVDSA is one of our most critical tasks, and one Dianna took very seriously.

Dianna is the mother of five children; Elaine and David (who passed away as a child), and Melissa, Matt, and Mike who they adopted and who all have Down syndrome. Dianna is also guardian for her brother Randy who has Down syndrome and is her inspiration for the generosity she has shared with so many others. Dianna and Gary have been influential in the lives of many foster children, too, that they cared for in their home before adopting their children. Dianna has also cared for Christy, who has Down syndrome, for many years in her home. She continues her legacy of love as she enjoys spending time with her three grandchildren as often as she can.

All who know Dianna know she is passionate about the value of individuals with Down syndrome. She was a pioneer for inclusion rights of all children in the public schools and helped to pave the way for a better education not only for her children, but for all children. 

After many years of service on the TVDSA board, Dianna is stepping down to be able to pursue her writing and to spend more time in service to her church and family. Dianna is looking forward to finishing a book she is writing about her experiences with her children. 

From all of your friends in the TVDSA family--Dianna, we can't thank you enough for your service for so many years! We wish you the very best in your new pursuits.

Children's Redesign
Services Parent/Family Educational Meeting and Training

Presented by the Department of Health and Welfare - Family and Community Services

This meeting is designed to provide you education and training about the new Children's DD system that begins 
phase in process, starting July 1, 2011.

All meetings will be from 6:00pm-8:00pm, dates and locations are listed below.  If you can't join us at those times, and have questions about the new system and/or Medicaid benefit package, you are welcome to contact Rebecca Fadness at 208.334.5701

Caldwell:  May 12th                      Boise:  May 19th

   3402 Franklin Rd                            1720 Westgate Dr.

                                                         Suite A, Room 131

Pocatello: May 24th                       Idaho Falls:  May 25th

   421 Memorial Drive  Human          150 Shoup Ave

   Development Center Rm 210

Couer d'Alene: June 1st                Lewiston:  June 2nd

    1120 Ironwood Dr.  in the               2604 16th Ave

    Large Conference Room

                              Twin Falls: June 7th

                                601 Poleline Rd.

In an effort to limit the length of the TVDSA newsletter and yet share the maximum information, you will find numerous Internet links for additional websites and contact information located throughout this newsletter.  Simply click on any highlighted & underlined text for a direct link to the information.

Go beyond the medical issues with this new video clip: It's A Wonderful Life, put out by the Connecticut Down Syndrome Congress  celebrating the pleasures of parenthood and the unlimited possibilities of our children. 

ANNOUNCING:

TVDSA DADs Group

The first gathering will be held Tuesday, May 24th

at A New Leaf

7:00pm-8:30pm

Come, share, learn and give input on where and how the DADS group can serve all of us to the fullest.

For more information or to RSVP, please contact:

Paul Auger  

May 10th

7:00pm-9:00pm

at A New Leaf

2456 Stokesberry

Meridian

We will have two speakers:  Natalie Jones, a board certified music therapist and owner of My Song Sings Therapy in Boise; and Valerie James from Ride For Joy Therapeutic Riding Program in Boise.  Both will discuss their programs and the corresponding benefits of the different therapies.

This Meeting is also the Annual Meeting to go over the 2010 year, vote for the 2011 Board Members and talk about the upcoming year's plans. 

We encourage everyone to attend this meeting as a lot of information will be shared. 

For suggestions on upcoming meeting speakers and/or topics contact: Karleen Lemon, Erin Rosenkoetter, or Kelly Zimmerman.

Saturday, May 14th

4:00pm-7:00pm

At the Gallas' House

Activity:  We will be having a BBQ.  The Gan's will be providing hamburgers and hotdogs.  Please bring a 2 liter bottle of soda, a bag of your favorite chips and a side dish to share. 

If weather cooperates, we will have a game of kickball outside, otherwise we will play games inside.

For more information or to RSVP, contact Molly Benton 

Playdates:

Saturday, May 14th

  3:00pm-5:00pm at

  Quinn's House:  1315 E.

  Red Rock Dr.  in Meridian

Monday, May 23rd

  10:00am-12:00pm at

  Colin's house: 680 E. 

  Cougar Dr. in Meridian

Other news:

Congratulations to the Sloan Family whose baby girl is due this month!

Any other May birthdays?  Please contact Kristie Yerger, so she can have your child included each month.

May 21st

1:00pm-3:00pm

at the Gallas' House

Activity: Celebrating Summer

We plan on having a cookout and outdoor activities in the Gallas' backyard.  Hotdogs, and Hamburgers (with buns) will be supplied.  Please bring your favorite cook-out dish (baked beans, potato salad, chips, dip, etc).  Come and have some fun.   We will be "ordering" a sunny afternoon!

Please contact Freddie Gallas for more information or to RSVP.

April 18, 2011

PEAK Webinar:

Creating Circles of Support

May 12th

 from 6:30pm-7:30pm 

*********************************** 

Idaho Conference on Mental Health: Mental Health Recovery and Resilience Across the Lifespan

June 16-17th

Boise Hotel & Convention Center

For More Information:  208.433.8845