HEALTH CONCERNS WITH DOWN SYNDROME
"Children with Down syndrome may face health complications beyond the usual childhood illnesses. Problems such as some congenital malformations of the heart can be life-threatening where other conditions are not as serious. More than 40 per cent of children born with Down syndrome have a congenital heart malformation. Because of this high incidence, an echocardiogram is recommended. The diagnosis of a heart problem does not mean the baby is, or will become, seriously ill. The extent of heart problems varies greatly.
Hypothyroidism is more common in newborns and children with Down syndrome. It is important that blood tests are repeated several times in the first few years, and annually after that, to ensure early detection and appropriate treatment.
Some degree of hearing loss, which is most often due to frequent ear infections, affects a high percentage of children with Down syndrome. Adequate hearing is critical to the development of good language skills, so periodic medical check-ups should include visualization of the ear canals to ensure no infection is present. Vision problems are also fairly common in many children with Down syndrome. An ophthamological exam is recommended during the baby's first year.
No individual with Down syndrome will have all the health complications, however, every child needs good preventative medical care. Teamwork between the family and doctors is vital to anticipate potential problems and provide specific and individual treatment should they occur. Appropriate health care can enhance the potential of individuals with Down syndrome."
Written by Stephanie Mamayson for the Canadian Down syndrome Society.
A Parent's Perspective - written by Sandi Graham-McWade
When I was researching Down syndrome after I had my prenatal diagnosis, the first thing I discovered was the vast amount of information pertaining to the health and medical concerns for people who have Down syndrome. The initial feeling was shock and fear because it looked so hopeless and I was nearly made to feel that my child would likely suffer or become afflicted with everyone of the ailments or heath issues associated with Down syndrome. The truth of the matter was, I was not informed correctly. I should have been told that the real fact of the matter was/is - having Down syndrome doesn't mean that your child will have or later get all or any of the illnesses that are described in so many medical texts or literature, it simply means that because of the genetic arrangement, the child with Down syndrome is more predisposed to certain medical/health concerns or issues. What does predisposed really mean though? Research shows that due to the extra 21st chromosome the trisomy affects every cell in the body and nearly every organ. This trisomy is the what can cause certain medical issues, and makes anyone who has Ds, more likely then the general population to have or eventually get certain medical problems. This is what causes the predisposition. Just as I mentioned how the extra copy is what is responsible for the physical attributes that are common in people with Down syndrome, the extra copy is responsible for the health issues that are said to be associated to Down syndrome. In my research and what I have seen in mostly all medical literature about Down syndrome is the statistic for the high incidence of congenital heart defects. Each article shows that there are heart defects in 40-60% of babies born with Down syndrome. I found it interesting though, that despite the known prevalence for many other medical issues, I did not see any statistics for each of those other known issues, only that they were common. I have put together the following list of the most common medical issues that people with Down syndrome seem to be genetically predisposed to, and what they mean. Again, remember - while this list may be comprehensive and long, please know that it doesn't mean that a baby with Down syndrome will have all, most or even any of them. The reality is for example, my son only had a heart defect which spontaneously resolved all on it's own.
CARDIAC: The most common issue (discovered usually at birth) seems to be the possibilty of heart defects. Ventricular septal defects and atrioventricular defects seem to be the most common of all the possible heart defects. Because of the high rate of cardiac issues present in children with Ds, it is advisable to have the baby checked at birth or at least before three months of age. The good news is that many moderate to minor heart defects can close on their own, but those that do not spontaneously close, routine heart surgery can be performed to correct the defect.
Endocrine (internal) issues:
THYROID: The next most common issue seen tends to be the thyroid, and proper functioning of it. The thyroid is responsible for proper growth and cognitive functions therefore requiring normal levels of the thyroid hormone. Low thyroid hormone or Hypothyroid is very common in people of all ages with Ds. Since autoimmune conditions are common in individuals with Ds it is extremely important to have routine evaluations of blood work performed in the first year of life. It seems that the common medical suggestion is to have thyroid levels checked at 6 months and then at 12 months of age, and then every year following that.
DIABETES MELLITUS: Since diabetes is recognized to be an autoimmune disorder, this makes sense why it has been found to occur somewhere between "1.4 - 10.6%" more often in people who have Ds (according to Dr. William Cohen MD a renound doctor in the study of Down syndrome and who was also a part of the Down syndrome medical interest group). Just as thyroid issues above, it is important to evaluate for sugar levels on an ongoing basis.
Because it is noted that growth is often affected with children who have Ds, and since the endocrine system may be affected with either the thyroid function or the growth hormone close attention needs to be paid when charting growth and weight. Special growth charts have been made for babies and children who have Ds. These growth charts can be found by visiting the resources page. Also, when considering growth, I should make mention that some babies have difficulty with transitioning with foods specifically textures. This is not specifically common only to babies with Ds, but since the medical pediatric community seems to have raised the time to introduce solids to a later age (now the normal times have been moved to six months) many experts have noticed that the transition to solids is much more difficult and some toddlers have difficulty with texture progression. Some Ds experts had determined that babies with Ds had a higher incidence with this, but generally overall, since the age of introduction of solids had been raised to six months in an attempt to stave off allergies, the result has been an increase in gag reflex problems with textures. I challenged this problem by introducing solids to my son when my doctor felt that he was ready and that happened to be at 4.5 months of age. Each physician will let you know when they feel your child might be ready based on feeding patterns, expression of hunger etc. I believe overall, you as the parent will know best if your baby seems to be hungry after nursing or bottles. I realized this when our son cried for more food after each feeding. I slowly allowed our son to try beginner organic baby foods and he responded well and there was no progression difficulty with textures. What I found helped was being able to identify when to add rice cereals to baby foods in an effort to change the texture of runny pureed foods to something more thick. I also allowed my son to have tastes of foods that I prepared such as mashed fruits, and vegetables. By the time our son was 7 to 8 months old, I was encouraging our son to bite or gum soft fruits himself, to encourage him to chew. This will depend on each baby, since not all babies get their first teeth at the same time. However, babies can still "chew" regardless of whether they have teeth. Their gums are hard since the teeth are directly under the surface, and they can still "bite" down on foods that are soft enough for them to gum. Remember though, whatever you introduce, should be small enough that whatever they eat can actually be easily swallowed.
GASTROINTESTINAL: GI problems can be pretty prevalent with babies that have Down syndrome. While this sounds really scary, it isn't really, it is actually a common problem which can affect all babies, not just ones who happen to have Down syndrome. With understanding GI issues, we have to know what it all includes. If your baby has trouble with spitting up, vomiting, bowel movement problems, reflux or gas, these could be representative of a GI problem. It means that your baby could have an issue with their stomach, or other areas such as the mouth, esophagus, or intestines which are all part of the GI tract. What is more important to understand for babies with Down syndrome is the cause of the GI problems. Knowing firstly why the incidence is high with having GI problems is key. The predisposition comes from the likeliness in having a defect involving the GI tract. Often in prenatal screening, radiologists look for these defects or what we know as markers involving the GI tract. Certain things like blockages in the intestinal tract may show up in ultrasounds during pregnancy, or later after birth for example something called a fistula (a connection issue between the esophagus and trachea) which can cause feeding issues because of the way foods or fluids move from the throat to the esophagus get disrupted through the fistula into the airway causing coughing or vomiting. Depending on the reason and the cause of the GI problem, will determine the care or treatment to be taken. More serious issues such as blockages or fistulas will require routine surgeries to remove them. The thing that can be stressful is when blockages are not discovered yet there are issues with the GI area. Frequent spitting up or vomiting, reflux or gas can make any new parent's head spin. Doctors worry about GERD (Gastroesophageal Reflux Disease) which is the abnormal reflux of stomach acid into the esophagus.
Alternately lack of bowel movements is also something that new parents commonly worry about. The important thing to know about for babies with Down syndrome is something called Hirschsprung Disease. Hirschsprung's disease is something that is usually determined right at birth. If a newborn infant is unable to move their first bowel movement (Meconium) or any after that, the test (biopsy) for Hirschsprung's should be done. Hirschsprung's Disease is caused by a lack of the nerve cells in a segment usually the end of the intestine (colon) where it connects to the rectum. Because the nerves in this area are absent, bowels are unable to move, causing them to impact or build up internally. Because being unable to pass bowel movements is such an obvious symptom, Hirschsprung's is usually an easy diagnosis to suspect and then confirm with biopsy testing. But, when a baby is able to move bowels, but less often or extremely infrequently, the diagnosis can be missed or not suspected. There are indeed mild forms of Hirschsprung's and it is important for parents who have a baby with Down syndrome to be educated about this particular medical issue. Hirschsprung's however, is not a common medical issue for anyone including babies with Down syndrome, but the incidence of occurrence is higher in those who have genetic abnormalities. The good news is if the baby is diagnosed with Hirschsprung's, it can be repaired, and the baby will have normal bowel function as a result after the repair.
Hematological (blood) issues:
LEUKEMIA: Leukemia is a cancer that starts in the stem cells of the bone marrow that makes blood cells. Leukemia develops when the stem cells make abnormal blood cells. The thing to realize here is while there definitely seems to be a correlation with Down syndrome in that there is a predisposition for this cancer, it is more important to know it is very rare. It is easier to say instead that Leukemia is more common in children with Ds then the general population. More often when Leukemia is discovered in children who are under the age of three, it has been found to be non-lymphocytic Leukemia (usually the acute myelogenous leukemia as opposed to the chronic). Most cases of Leukemia tend to surface before the age of five. Children who go through standard treatment do recover easily and favorably. Because Leukemia is a cancer, the goal of the treatment is to rid the body of the abnormal cells which may mean undergoing different treatments. While there are different treatments available, chemotherapy or bone marrow transplants can be considered. The procedure or a bone marrow transplant entails having the marrow from the patient replaced with a donors. The important note here for parents to know is, while this cancer is rare, know what the signs and symptoms are so that you are educated on what to look for. Easy bruising or bleeding, on various locations on the body, bruises or blotches on skin where no damage has been done, pale colour to the skin, unexplained fevers or fatigue should signal you to be hypervigilant with speaking to the doctor.