Approximately 1 in every 700 babies born in the U.S. has Down syndrome, or trisomy 21, a chromosomal disorder in which children are born with three copies of chromosome 21.
Parents today have an abundance of available resources to help prepare for raising a child with Down syndrome, including geneticists who can speak to them about how this diagnosis may affect their child. Their child's primary care doctor has likely taken care of multiple patients with Down syndrome and can be another good resource.
"I try to make sure that parents can connect to other parents," says Dr. Michal Goldberg, a board-certified pediatrician with Sharp Rees-Stealy Medical Group. "With children who have special needs, other parents who have already walked down a similar road will prove to be an invaluable resource."
The National Association for Down Syndrome can also help parents connect with other parents of children with Down syndrome, and can help to reduce the anxiety that many parents will feel upon receiving that diagnosis.
The life expectancy for people with Down syndrome was just 25 years old in 1983. Today, that has increased to 60 years old due to better screening and management for health conditions commonly seen in children with trisomy 21.
"With good medical care, most people living with Down syndrome can lead fruitful and healthy lives," says Dr. Goldberg. However, parents should recognize that children with Down syndrome are at higher risk for the following conditions:
Children with Down syndrome can have varying degrees of intellectual disability, ranging from mild (IQ of 50 to 70) to moderate (IQ of 35 to 50). Doctors occasionally see severe intellectual disability with an IQ ranging from 20 to 35.
Slowed physical growth
Growth is generally slower in children with Down syndrome. Doctors follow growth of children with trisomy 21 on growth charts specifically designed for them.
Congenital heart defects
About half of the children with Down syndrome have congenital heart disease. All children with trisomy 21 should have an echocardiogram to screen for heart disease.
Children with Down syndrome are more likely to have other anomalies as well, including:
Children with trisomy 21 are also at risk for atlantoaxial instability and dislocation of the neck, which can result in spinal cord injury. Signs and symptoms of spinal cord injury are a medical emergency. Dr. Goldberg encourages parents and caregivers of all children to receive CPR training.
"Children with Down syndrome are first and foremost individuals. There are certainly associated health issues, but those are not likely to be all-consuming in each child's life. It is important to remember that each child also has gifts and often brings much joy to friends and family," Dr. Goldberg says.