Down Syndrome

Introduction

The Questions and Answers that follow aim to provide an introduction to Down syndrome for parents and other family members. Following those, we offer links to selected resources for more information and support and a list of valuable services.
More information about many topics relevant to children with Down syndrome and many other chronic conditions and their families can be found in the left menu. Detailed information aimed at primary care doctors can be found in our Down Syndrome module.

What is 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.

How do you get 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.

What are the symptoms?

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.

How is it diagnosed?

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.

What is the expected outcome?

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.

Will anyone else in the family get Down syndrome?

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.

What is the treatment?

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.

How will my family's life be changed?

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.

Resources

Information & Support

For Parents and Patients

National Down Syndrome Congress
The NDSC, a membership organization, offers parent resources, including a "new parent package" of information, resources for adult siblings caring for a loved one, and information for people with Down syndrome themselves.

Down Syndrome (Genetics Home Reference)
Excellent, detailed review of condition for patients and families; sponsored by the U.S. National Library of Medicine.

Living with Down Syndrome (Down Syndrome Educational Trust) (PDF Document 951 KB)
A 26-page, printable booklet with information about family, school, social, and medical issues particular to those with Down syndrome. It has a positive focus and includes personal stories and helpful advice for parents and families.

International Foundation for Genetic Research (The Michael Fund)
Advocacy organization aimed at fund-raising for research, improving care and education of children with Down syndrome, and right-to-life issues.

What is Down Syndrome (National Down Syndrome Society )
An in-depth look at Down syndrome with information for children and adults, which provides a good explanation of the condition and useful information.

Patient Education

Children with Down Syndrome: Health Care Information for Families (AAP)
Comprehensive guide to help parents and families of children with Down syndrome. Focuses on medical topics, by age, that affect physical health. Includes links to health care information for families of children with Down syndrome. PDF downloads available; American Academy of Pediatrics.

Toilet Training Children with Down Syndrome (National Down Syndrome Society)
A guide to help determine toileting readiness and teach toileting skills to children with developmental disabilities. Includes simple images that may be used as visual cues.

Services for Patients & Families in Rhode Island (RI)

For services not listed above, browse our Services categories or search our database.

* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.

Studies

DS-Connect: The Down Syndrome Registry (NIH)
This site offers patients and families opportunities to connect with researchers and health care providers, and access research data. Patients and families can take confidential health-related surveys and express interest in participating in clinical studies on Down syndrome. Developed by the Down Syndrome Consortium, led by the National Institutes of Health and involving several Down syndrome advocacy and professional organizations.

Authors & Reviewers

Last update/revision: June 2019
Current Authors and Reviewers:
Author: Lisa Samson-Fang, MD
Reviewer: Amy Burton Moore
Funding: The Medical Home Portal thanks the 2011-2012 URLEND Medical Home Portal trainees group for their contribution to this page.