Kalispell,
18
October
2016
|
14:00 PM
America/Denver

Learn the facts on Down syndrome

October is Down Syndrome Awareness Month.

guinn-pitman

By Tessa Pitman, CGC, and Debra Guinn, MD

While the month of October is well known for breast cancer awareness, it’s also important to highlight another significant topic of conversation this month: Down syndrome. October is a month to get more familiar with this genetic condition, as continued education and research are vital to learning more and understanding.

Down syndrome is one of the most common and well-described genetic conditions known today, affecting about 400,000 people in the United States. Approximately 1 in every 800 babies will be born with Down syndrome each year. Ongoing education and awareness continue to be important to ensure families receive the appropriate medical and supportive care.

Down syndrome occurs when a person is born with three copies of chromosome 21 instead of two copies. This is why Down syndrome is often referred to as trisomy 21. Normally each cell in the body contains 46 chromosomes, with 23 pairs inherited from each parent. Genes are lined up on each chromosome like beads on a string. Genes carry the instructions for how our bodies should grow and develop throughout life.

Since we all have two copies of every chromosome, we, in turn, should have two copies of every gene. Of the approximate 25,000 genes we all possess, there are an estimated 300 genes just on chromosome 21 serving a variety of different roles and functions in the body. Having extra copies of the genes on chromosome 21 disrupts the course of normal development, causing the characteristic features of Down syndrome and the increased risk of health problems associated with this condition. In 2000, chromosome 21 was the second human chromosome to be fully sequenced through the Human Genome Project.

Down syndrome is associated with intellectual disability and medical problems that can occur throughout childhood and adulthood. All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate. Babies with Down syndrome usually have developmental delays and benefit from early intervention, so services including physical, occupational and speech therapy are important to help them meet their milestones. About 80 percent of the time babies will have low muscle tone at birth, leading to feeding and digestive issues. This usually improves with time, but starting physical therapy early can help. Babies with Down syndrome are also at increased risk for hearing loss, vision impairments and respiratory infections. Most of these problems can be treated early when the diagnosis is made early.

More than 50 percent of babies with Down syndrome will have one or more health issues in addition to developmental delay. Up to 60 percent of babies will be born with a heart defect. Digestive abnormalities, such as a blockage of the intestine, also are associated with Down syndrome. These birth defects may require surgery after the baby is born.

Identifying birth defects during pregnancy allows families to identify the appropriate pediatric specialists and then meet with these specialists to discuss possible surgeries and monitoring. There are health supervision guidelines published specifically for Down syndrome.

The vast majority of services required to care for children with Down syndrome are available at Kalispell Regional Medical Center through pediatrics, the pediatric subspecialists, pediatric surgeons and the neonatal intensive care unit. Babies who require heart surgery will be managed primarily by pediatric cardiologists and sent to a pediatric cardiac surgeon when surgical intervention is necessary.

An early diagnosis is optimal to help families engage with the appropriate medical specialists and plan for early intervention therapies to begin after the baby is born. This is why the recommendation that all pregnant women be offered genetic screening for chromosomal abnormalities, including Down syndrome, is supported by several medical groups including the American Congress of Obstetricians and Gynecologists, Society for Maternal-Fetal Medicine and American College of Medical Genetics and Genomics.

Prenatal ultrasounds can identify birth defects suggestive of Down syndrome as early as the 11th week in pregnancy. In the event a birth defect is identified, appropriate genetic screening and testing options can be offered. A detailed medical and family history also can reveal other risk factors.

Although women of any age can have a child with Down syndrome, the chance of having a child with this condition increases as a woman gets older. Several noninvasive genetic screening options exist that help identify babies at increased risk for Down syndrome and other chromosomal disorders and birth defects. In the event the screen indicates the risk is increased, parents can be counseled about the results, risk to baby, and additional testing options in a supportive and balanced environment.

Families often want to know why this happened. The chance of having a baby with a chromosomal abnormality, such as Down syndrome, increases with the age of the expectant mother. Down syndrome does not typically run in families, but when it does, there can be up to a 50 percent chance for recurrence in future pregnancies. Genetic testing can determine if it is inherited or not. Most important, regardless if it is inherited, there is nothing either parent did or didn’t do that would cause their child to have Down syndrome.

The reality is that children with Down syndrome are more similar to other children than they are different. Raising a child with Down syndrome may involve more time commitment. Special education services at school can range from inclusion in the typical classroom with extra help to small-group instruction. Individualized education programs can help children with Down syndrome reach their potential. Currently, there are also more than 250 college programs for people with intellectual disabilities.

Several factors will influence a family’s decision about planning for long-term care. The average life expectancy for a person with Down syndrome is currently about 60 years, so making decisions about long-term care is something parents always are considering. As a result of improved public attitudes and acceptance, many people with Down syndrome are thriving as active and valued members of the community. This includes children who are involved in social and school programs with their peers and many adults who are employed and live independently or with some support.

For more information about prenatal screening for Down syndrome and the impacts of this genetic disorder, be sure to connect with Montana Perinatal Center, a clinic within the Kalispell Regional Healthcare Physician Network. Debra Guinn, MD, and Tessa Pittman, CGC, can help with genetic screening and counseling as well as offer prenatal care for expectant families. Montana Perinatal Center offers a specialized team of professionals who provide comprehensive and collaborative care for women whose pregnancies may be considered high risk.

For further information, please contact the clinic:
Montana Perinatal Center
210 Sunnyview Lane, Suite 103
Kalispell, MT 59901
(406) 257-3872