Tomorrow, March 21st, is World Down Syndrome day. It’s a perfect choice of days, as it is the 21st day of the third month symbolizing the third copy of the 21st chromosome that defines Down Syndrome.
I love my Down Syndrome patients. They are delightful, funny, kind, and never cease to amaze me. Down Syndrome is a genetic condition where a baby inherits extra genetic material from one parent. Instead of having 46 chromosomes, people with Down Syndrome usually have 47 total with an extra 21st chromosome. Trisomy 21 is another name for Down Syndrome and it reflects the fact that an extra chromosome 21 is in each cell. This extra genetic material creates a set of common physical features that makes identifying someone with Down Syndrome pretty straightforward.
I am lucky to have quite a crew of these special kids in my practice. Because of their extra genetic material, they are at increased risk for specific issues like vision and hearing problems, heart defects, spinal cord compression, thyroid and intestinal issues, sleep apnea, and even some cancers, so vigilance is key to caring for them.
Recently I attended a conference and heard the latest information about the timing of routine screening for children and adolescents with Down Syndrome. I learned that some things I had previously been doing routinely didn’t need to be done on everyone, and that some new recommendations about universal screening have been suggested.
Here’s the summary of recommendations for screening kids with Down Syndrome based on their age:
- Chromosomal testing: Most parents are aware that they are having a child with Down Syndrome prenatally. Even if that’s the case though, sending a chromosomal analysis on the infant is a must. Some people with Down Syndrome have an whole extra chromosome while others have only part of the extra chromosome. If the partial extra chromosome is in play, one parent may have what’s termed a balanced translocation of the genetic material themselves and even though they don’t have Down Syndrome, they would be more likely to have other children affected or their unaffected children could carry the translocated gene and be at increased risk of having a child with Down Syndrome themselves. It won’t affect how you care for the baby with Down Syndrome, but may affect childbearing choices.
- Hearing screening (all newborns have a hearing screening prior to discharge from the hospital)
- Cardiac assessment looking for structural defects
- Thyroid screening (part of the newborn screen every infant gets)
- Eye exam to see if there’s any evidence of cataracts
- CBC blood work looking for abnormal white blood cell counts which could indicate an increased risk for leukemia
- Close attention to timing of first bowel movement. If it is delayed beyond 24 hours of age there is a chance that there are bowel issues that require investigation.
- Vomiting all feedings may indicate that there is a stricture of the duodenum (the first part of the small intestine)
At 6 months:
- Repeat thyroid testing
- Hearing testing again
- First ophthalmology exam to screen for lazy eye, cataracts, and other vision problems
At 1 year:
- Thyroid screening
- Hearing screening
- Annually from 1-5 years:
- CBC screening for leukemia
- TSH annually to screen for thyroid problems
- Sleep study at age 4 to screen for obstructive sleep apnea (earlier if snoring or sleep apnea is suspected)
- Yearly ophthalmology appointments and hearing screening
- 23-valent pneumococcal vaccine if cardiac or pulmonology issues at age 2
- Early dental care as teeth will come in abnormally
- Yearly TSH and CBC and hearing screening
- Ophthalmology exam every 2 years if vision has been normal until now
- TSH, CBC and hearing screening annually
- Ophthalmology exam every three years if normal until now
- Discuss gyn and reproductive health and sexuality as many of the highest functioning kids will want to be in relationships and will have partners eventually. Boys with Downs are typically infertile but girls have an increased risk of a Downs offspring. All kids need guidance though when it comes to sexuality.
- Facilitate transition to adulthood and long-term care planning for parents to ensure guidance and care when the parents are gone.
What’s missing from these new guidelines are two items that we used to screen all Down Syndrome patients for: atlantoaxial instability and celiac disease.
For children with Down’s, there is no need any longer for routine neck radiographs any more to screen for unstable cervical vertebrae. We found with routine neck X-rays that 15 percent will have laxity of one of the joints in the cervical spine (antlantoaxial instability), but the vast majority of children never have symptoms.
Restricting participation in sports or gym based on a finding that so few will have symptoms related to was too conservative. Only 2 percent of those with the instability will go on to develop spinal cord compression. In addition, since most spinal injuries aren’t sustained during athletics but rather in normal play on the playground or horsing around at home, restricting Downs kids from participating in sports based on an X-ray finding was not necessary. Interestingly many of those with evidence of cervical spine instability will normalize over time and were out of sports for no reason.
We do need to be aware of the signs of compression, though, for all children with Down Syndrome, and act quickly if they are present. Signs of compression include change in gait, arm or leg movement or strength, bowel or bladder changes, and neck pain.
Celiac screening is now recommended to be done on children who are exhibiting symptoms of the disease rather than all children. Although people with Down Syndrome are at greater risk of celiac disease, screening everyone every year or two is unnecessary. If the child has growth, intestinal, or other issues suggestive of celiac screening should be done at that time.
Taking care of children with Down Syndrome is a joy, and screening properly to optimize their health and development is essential.