Answers to questions families often have about caring for their child with Down syndrome

Down syndrome, also known as trisomy 21, is the most common chromosomal disorder. People with Down syndrome have three copies of chromosome 21 instead of two. One in every 884 babies in the United States is born with Down syndrome.

Down syndrome occurs due to an error in cell division, causing some or all of a person’s cells have an extra copy of chromosome 21. This additional genetic material affects the development of the individual and causes the characteristics associated with Down syndrome, which can include intellectual and physical challenges. Down syndrome is not passed down from parent to child or caused by anything the parents did before or during pregnancy.

Prenatal findings of Down syndrome can include heart defects (often seen on fetal echocardiogram), problems with the umbilical cord, slow fetal growth, and extra skin on the neck (nuchal folds).

Signs of Down syndrome seen at birth can include almond-shaped eyes, low muscle tone, low Apgar score, and a depressed nasal bridge. Babies born with Down syndrome may need oxygen at birth and have other special medical needs.

Individuals with Down syndrome have varying degrees of intellectual disabilities, from very mild to severe. Most people with Down syndrome have IQs in the mild to moderate range of intellectual disability.

Down syndrome is diagnosed by chromosome analysis, which may be done on cells from amniocentesis or chorionic villus sampling during gestation. For those children not diagnosed prenatally, a sample of the infant/child's blood can be sent for chromosome analysis to confirm the diagnosis.

While screening tests cannot provide a diagnosis, routine prenatal screening may identify Down syndrome during gestation. When screening guidelines are used effectively, 90% of cases will be identified during pregnancy. Currently 50% of infants with Down syndrome are identified during gestation and most of the rest are identified in the newborn period.

Down syndrome affects individuals in many aspects of life, including medical and health, education, family, and social life. Early intervention can improve outcomes in all of these areas. While people with Down syndrome may have intellectual and physical disabilities, they may be valued community members who can have friendships, social lives, and jobs. Because of medical advances, life expectancy for people with Down syndrome has increased dramatically in recent decades—from 25 in 1983 to 60 today. The possibilities for people with Down syndrome have never been brighter.

Down syndrome does not generally run in families. The likelihood of having an additional child with Down syndrome is 1 in 100. Down syndrome occurs in people of all races and economic levels.

Although older women have an increased chance of having a child with Down syndrome, younger women have more babies with Down syndrome because they have more babies than older women. A 35-year-old woman has about a one in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to one in 100 by age 40. At age 45 the incidence becomes approximately one in 30.

No treatment can cure Down syndrome, though some of the secondary medical conditions are now treatable, such as congenital heart defects, respiratory and hearing problems, childhood leukemia, thyroid conditions, autoimmune conditions, celiac disease, and diabetes. Most people with Down syndrome lead healthy lives.

Physical therapy (for gross motor skills), occupational therapy (for fine motor skills), speech therapy, school supports, Special Education, and other early interventions can improve outcomes. Along with good health care and quality educational programs, a stimulating home environment and support from family, friends and the community are vital for positive outcomes.

Care provided by a pediatrician or family physician may be augmented by consultation with a Down syndrome clinic or genetics clinic that has extensive experience caring for children with the condition.

While children with Down syndrome may have special medical needs that require additional health care, educational, and family supports, individuals with Down syndrome are increasingly involved in society and their communities, such as through school, the work force, and social and recreational activities.