Becky Jackett was in the delivery room when her adopted son Lucas was born nearly 21 months ago. It was then that she and her husband discovered Lucas had Down syndrome.
"We were very worried at first, but they told us to take him home and love him," Jackett says.
Now Jackett brings Lucas to a new specialty Down syndrome clinic at the University of Michigan Health System. The clinic addresses the medical and rehabilitation needs of children and adults with Down syndrome, a condition that affects one in 800 live births.
"In people with Down syndrome, there are a number of medical issues that need to be addressed on a regular basis. Most primary care physicians don't have a large population of people with Down syndrome, so they're typically not aware of these recommendations," says Joseph Hornyak, M.D., Ph.D., assistant professor of Physical Medicine and Rehabilitation at U-M Medical School.
The most common problem associated with this condition is mental retardation. Virtually every child and adult with Down syndrome has some mental disability, says Hornyak, who started the clinic. Other problems affect the heart, thyroid and other hormonal systems, and about 10 percent to 15 percent of people with Down syndrome are at higher risk of cervical spinal cord injury because of some neck instability.
The clinic coordinates lab work, functional assessments and recommendations for speech, occupational or physical therapy.
"A lot of what we do is counseling with the parents, advising them of their rights and making recommendations for them," Hornyak says.
Hornyak's son has Down syndrome, which has helped Jackett feel better about Lucas' care.
"We felt connected to Dr. Hornyak right away," she says. "It's nice to hear how his son is doing so we have an idea of what to expect." Lucas has already had cataract surgery in both eyes and must wear contact lenses until his eyes have finished developing. He has passed his hearing test and his heart test. At 21 months old, he's only just started crawling and Jackett notices he's developing slower than other children.
"Still, he's an active 21-month-old who likes to get into his brother's stuff. He's always on the move and he's a very happy baby," Jackett says.
As part of the UMHS Down syndrome clinic, parents get help dealing with the child's school, including orders or prescriptions for the school to provide certain services.
"We've found that having these children involved in a regular classroom is very important," Hornyak says. "By providing the appropriate services, children can learn, they can read, they can do things that a lot of typical people can do, although at a different level. But they can make nice progress. Making sure we provide the appropriate services through schools and through therapies is important."
In addition to focusing on medical care and rehabilitation services, the Down syndrome clinic has included a research component. Work includes improving care for people with Down syndrome and educating the larger population, including families, to better support people with Down syndrome in the community.
"For many years, children with Down syndrome were warehoused and families were encouraged to give children with Down syndrome up for adoption. So for many years, they weren't getting the appropriate services," Hornyak says. "Now we're really starting to see that people with Down syndrome can get jobs. They may need to be tailored to their needs and abilities, but they're able to get out, they're able to work, they're able to read, they're able to write, and they're able to live independently."
About Down syndrome
Down syndrome is a genetic disorder that affects one in 800 live births. Children born with Down syndrome have an extra copy of the 21st chromosome for a total of 47 instead of 46 chromosomes. It's also referred to as Trisomy 21 because people with Down syndrome have three copies of the 21st chromosome. The likelihood of a woman having a baby with Down syndrome increases with maternal age. Many specialists recommend women who become pregnant after age 35 consider prenatal testing for Down syndrome.
Down syndrome can be diagnosed in utero, typically by amniocentesis, or more commonly after birth. The first signs of Down syndrome are often physical characteristics:
"¢ flat face "¢ upward slanted eyes "¢ single deep crease across the palm of the hand "¢ wide space between the big toe and second toe "¢ low muscle tone "¢ mouth stays open with tongue sticking out
Medical concerns of Down syndrome
"¢ Feeding. Children with Down syndrome tend to have small mouths and smooth, flat tongues that may cause spilling of liquids out of the side of the mouth. This problem usually goes away as tongue control improves. "¢ Heart defects. Many children with Down syndrome are born with heart defects. Consultations with a pediatric cardiologist soon after birth and an electrocardiogram are recommended. "¢ Low thyroid hormone levels. Thyroid screening tests are standard at birth but should be repeated at age 6 months, 12 months and once a year after that. "¢ Hearing problems. Many children with Down syndrome have hearing problems, often due to frequent infections or fluid in the middle ear. Treating hearing problems will also improve language development. "¢ Vision problems. About 70 percent of children with Down syndrome will need glasses and 20 percent will have a squint, meaning the eyes point in slightly different directions. "¢ Dental and oral concerns. Teeth often come in later, with the first tooth appearing between 12 and 48 months. Half of children with Down syndrome are missing at least one tooth. Many children with Down syndrome will have an overbite or a crossbite. "¢ Sleep apnea. Air passages in the nose, mouth and chest are smaller which may cause snoring or sleep apnea. "¢ Cervical spine instability. Between ages 3-5, children with Down syndrome should have X-rays of the upper spine to look for too much movement of the bones in the upper spine.
Resources
U-M Health System Your Child: Down Syndrome : http://www.med.umich.edu/1libr/yourchild/downsyn.htm
National Down Syndrome Society: http://www.ndss.org Facts About Down Syndrome: http://www.nichd.nih.gov/publications/pubs/downsyndrome/down.htm
Down Syndrome: A Resource List: http://www.med.umich.edu/1libr/pa/pa_bldownsy_pep.htm
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