Approximately one in 700 babies is born with Down syndrome, making it the most common chromosomal condition in the United States. "People with Down syndrome have an extra copy of chromosome 21," says Amy Houtrow, M.D., Ph.D., medical director of Children's Hospital of Pittsburgh of UPMC's Rehabilitation Institute and member of the American Academy of Pediatrics' (AAP) Council on Children with Disabilities. This additional genetic material disrupts the normal mental and physical development. Infants with Down syndrome have low muscle tone and are at risk for other health problems, which can add to the complexity of newborn care. These tips can help.
Sleeping. Children with Down syndrome often have an enlarged tongue with poor muscle tone. When they sleep, the tongue may fall into the back of the throat. This can lead to obstructive sleep apnea, a condition that causes someone to stop breathing for very short periods of time. Nearly 45 percent of children with Down syndrome suffer from obstructive sleep apnea (enlarged tonsils and adenoids also are to blame). Sleep apnea isn't typically a problem for infants, but watch for signs of it (snoring, restless sleep, gasping noises, frequent night awakenings, daytime drowsiness) as your child grows. Because of the high risk for apnea, the AAP recommends that all children with Down syndrome have a baseline sleep study by age 4.
Reaching Milestones. Down syndrome affects kids' ability to learn in different ways. Most have mild to moderate intellectual impairment. Because the first years of life are so critical for a child's future development, all babies born with Down syndrome are eligible for free early intervention services via the federally mandated Individuals with Disabilities Education Act (IDEA). These include physical therapy (to bolster motor skills and improve muscle tone); speech-language therapy (to heighten listening and speaking skills, as well as help with swallowing problems); and occupational therapy (to help children master life skills such as feeding and dressing oneself, opening doors, and holding crayons and pencils).
Overall, you can expect your baby to reach the same milestones as her peers -- rolling over, walking, and talking -- but at a delayed pace due to the lack of muscle tone. That's why it's more important to pay attention to the sequence in which your baby reaches milestones (for instance, progressing from sitting unattended to crawling, standing, and then walking) and not her age at the time the milestone is reached.
Managing Your Baby's Health. Babies with Down syndrome tend to have other health complications that may require many visits to pediatric health-care providers. Common problems include:
Heart defects. Approximately 50 percent of infants with Down syndrome have a heart defect. Some heart conditions are identified prenatally during ultrasounds. Even if your newborn's heart seems fine, he will still undergo an echocardiogram sometime during his first three months
Hearing loss. Your baby may have narrow ear canals and be prone to ear infections. To ensure that your baby's hearing isn't impaired, the AAP recommends hearing screenings every six months starting at birth and continuing to age 3 (after which testing should be done annually).
Eye problems. More than half of people with Down syndrome have some type of eye problem. In infants, the problems can range from mild (blocked tear ducts) to serious (cataracts). Even children with no known vision problems should see a pediatric ophthalmologist every one to two years.
Gastrointestinal problems. Hirschsprung disease, an intestinal nerve condition that makes it difficult to expel stools, affects between 2 and 15 percent of infants with Down syndrome. Your baby also has a higher risk for obstructions of the small intestines (which leads to severe vomiting); an improperly connected windpipe and esophagus (this causes frequent choking during feedings); and a closed anal opening. Surgery is required for any of these conditions.
Malfunctioning thyroid. The thyroid gland doesn't function properly in about 10 percent of children with Down syndrome. Your baby will be screened for hypothyroidism at birth and at least every two years. If her thyroid is malfunctioning, medication can help.
Although these health issues sound scary, all are treatable. A baby born now with Down syndrome can expect to lead a full, healthy life. In fact, the life expectancy for people with Down syndrome has increased dramatically in recent decades: from 25 years in 1983 to 60 years today.