Caring for a child with
by Dr Nicole Stoecken
Down syndrome is a genetic disorder in which a child is born with an extra copy of the 21st chromosome. While genetic testing is available to allow detection during childbirth, for many moms, like Dr Nicole Stoecken of MercyOne Grimes Pediatric Care, a surprise diagnosis at birth is also possible.
Since Dr. Stoecken gave birth to her fourth child, Josie, born with Down syndrome in December 2019, she has become a spokesperson and guide for children diagnosed with Down’s syndrome. As a pediatrician , Dr Stoecken works daily with new mothers. She provided some frequently asked questions she has received from new parents of children with Down syndrome.
What is Down syndrome and how often is it diagnosed?
Human cells contain 23 pairs of chromosomes. In each pair, you receive one chromosome from each parent. Down syndrome is the result of an abnormal cell division within chromosome 21. The person with the disease is not in pain, Down syndrome is just part of who they are, not who they are. There is nothing “down” about Down syndrome. The name actually derives from the physician, John Langdon Down, who was the first to recognize and describe the genetic disease in 1862.
The extra genetic material in the 21st chromosome is responsible for the characteristics and developmental delays of Down syndrome, which can present as one of three genetic variations:
In about 95 percent of cases, Down syndrome is caused by abnormal cell division during the development of the sperm or egg, which causes a person to have three copies of chromosome 21, instead of the usual two in all cells.
Down syndrome with translocation
Children with translocation Down syndrome have the usual two copies of chromosome 21, but before or at conception, additional genetic material from chromosome 21 attaches to another chromosome.
Mosaic Down Syndrome
In this rare variation of Down syndrome, the extra copy of chromosome 21 is only present in certain cells, resulting in a mosaic of normal and abnormal cells caused by abnormal cell division after fertilization.
Each year, Down syndrome is present in 6,000 births, or 1 in 700 babies, making it the most common genetic disease in the United States.
What tests are available during pregnancy to detect a genetic disease and when is a diagnosis usually made?
During pregnancy, there are screening test options for a genetic condition that are safe for both mother and baby and pose no risk of miscarriage. However, they are not able to detect with certainty whether a fetus is affected. Parents are offered diagnostic tests if their screening test reports a possible abnormality. These tests are extremely accurate at detecting abnormalities, but have a low risk of miscarriage, less than one percent:
Sequential integrated screening test
These tests take place in two stages. The first takes place during the first trimester of pregnancy. A sample of maternal blood is taken and a nuchal translucency ultrasound measures the amount of fluid in the baby’s neck. The process is repeated at 15-20 weeks as a second step. If there is excess fluid found on ultrasound, an abnormality may be present.
Chromosomal problems, such as Down syndrome, are usually identified with amniocentesis. These genetic testing procedures are usually performed between 15 and 20 weeks of pregnancy. Under the direction of an ultrasound, a small amount of amniotic fluid is removed through a needle inserted into the abdomen. The cells of the fluid are cultured and an analysis of the chromosomal makeup of the cells, a karyotype analysis, is performed.
Chorionic villus sampling (CVS)
A CVS diagnostic test can be done earlier than an amniocentesis, usually between 10 and 12 weeks gestation. Like amniocentesis, a CVS is most often used to identify chromosomal abnormalities, such as the type seen in Down syndrome. With ultrasound guidance, a catheter is inserted into the cervix or a needle is inserted into the abdomen to extract a small piece of tissue from the placenta. The tissue is then cultured and a karyotypic analysis of the chromosomal makeup of the cell is performed.
What are some of the unique physical characteristics present in children with Down syndrome?
With Down syndrome, common and distinct features may be present. Yet even these physical aspects vary, and people with Down syndrome will always look like family members. Some common physical characteristics can include:
- Almond-shaped eyes (palpebral fissures)
- Tiny white spots around the iris of the eyes (Brushfield spots)
- Flattened facial profile
- Small ears
- Shortened or widened collar
- Prominent or protruding tongue
- Small hands with a single crease in the palm
- Shortened waist
What medical conditions should parents be aware of?
There is a wide range of medical conditions that can be present in children with Down syndrome. Just like physical characteristics, every person is an individual and their medical conditions vary from person to person.
Problems affecting muscle afflict nearly all people with Down syndrome and contribute to most of their medical diagnoses, and can contribute to common delays in growth and fine motor skills encountered early in life. Although people with this genetic condition can be very strong, muscle hypotonia is the inability to relax muscles. The individual retains a certain amount of tension and stiffness which can be felt as resistance to movement.
Common eye diseases and intractable errors can cause a person to need glasses.
A congenital heart defect is present in about 50 percent of children born with Down syndrome. In some cases, a heart problem will require surgery in early childhood. Hearing loss. Due to their anatomy, people with Down syndrome may have problems with middle ear fluid causing repeated ear infections, which can impact their hearing.
Children with Down syndrome have an increased risk of leukemia.
Due to their soft tissues and a unique skeletal structure around the neck, it is common for the airways to be obstructed, especially in the resting state.
This is just a short list of possible medical conditions potentially present in someone with Down syndrome. Everyone is different and I encourage you to stay in constant communication with a regular doctor as they are the best resource for getting to know their patient and being able to watch out for potential problems along the way.
About the Author
Dr Nicole Stoecken accepts new patients at MercyOne Grimes Pediatrics Care. If you would like to make a pediatric appointment, you can contact her by calling the clinic at 515-300-3900.
Dr. Stoecken received her undergraduate degree in Integrative Physiology from the University of Iowa before attending medical school at Des Moines University. She completed her residency at the Blank Children’s Hospital in Des Moines where she was Chief Resident in her third year.
She has been a general pediatrician at MercyOne pediatric clinics for the past five and a half years. She started at the MercyOne West Pediatric Clinic where she worked for two and a half years before moving to the new MercyOne Grimes Pediatric Clinic in January 2018.
Dr Stoecken lives in Grimes with her husband Andy and 4 children, Emma, Blake, Brooks and Josie. She enjoys outdoor activities with her family, including boating on the lake, hiking, and backyard games. She is passionate about defending the health of all children and the inclusion of all individuals in our schools, communities and society. She lives by the motto, “Always be a kind human”!
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Children with Down syndrome have an increased risk of leukemia.