In recognition of Eunice Kennedy Shriver whose boundless vision advanced the progress of people with disabilities for generations. In appreciation for her special interest in this project and the generous
contribution of the Joseph P. Kennedy, Jr. Foundation toward the funding and support of this booklet.
©2018, 2024 Joseph P. Kennedy, Jr. Foundation and the Human Development Institute. All rights reserved. Written by Stephanie Meredith. Designed by Canister. Photos, shot on location by Matthew Day, Andy Meredith, and Justin Meredith, include members of the Down syndrome community, their friends, families, teachers, and co-workers in their schools, sports clubs, churches, neighborhoods, homes, and places of employment. Order additional copies in multiple languages at Lettercase.org.
The material in this publication is intended to provide a general overview of Down syndrome and select, reliable resources. It is not comprehensive and should not be used to substitute for quality medical advice from your provider. All decisions about a patient’s care should be fully discussed with a medical care provider. We assume no liability arising from the use of, or content within, this booklet. The statement on the back cover was provided by the Down Syndrome Consensus Group participants who represented their respective organizations. It does not imply organizational endorsement.
Down syndrome occurs when a person has an extra full or partial copy of the 21st chromosome — one of the genetic building blocks for all people. About one out of every 800 babies is born with this condition in the US.1,2 There are about 220,000 people nationwide living with Down syndrome, which is found among all cultures and economic classes.2,3
The range of medical conditions and abilities can vary widely for people with Down syndrome. Therefore, each person with this condition has their own strengths and weaknesses that no one can predict before birth. In general, most people with Down syndrome have mild to moderate intellectual disabilities. Most can communicate verbally and take care of their basic needs (such as bathing, toileting, dressing, etc.)4 Down syndrome can also cause low muscle tone and higher chances for some health issues such as heart conditions.
While people with Down syndrome do face challenges, advances in healthcare, education, and public attitudes have greatly improved their lives. This progress has given them more opportunities as valued members of their families and communities. This means that more people with Down syndrome are finishing school, finding jobs, and forming meaningful relationships.
More information about Down syndrome can be obtained from health professionals and national and local Down syndrome organizations. They can be helpful resources when looking for a range of views on living with this condition.
A diagnosis of Down syndrome is confirmed by testing a baby’s chromosomes to look for the extra 21st chromosome. This type of testing can be done prenatally through chorionic villus sampling (CVS) or amniocentesis (tests that take samples of tissue or fluid from the placenta).
Sometimes an ultrasound can show signs that a baby has an increased chance of having Down syndrome. Certain blood tests can also detect if a baby is more likely to have Down syndrome. These include prenatal maternal serum screening and cell-free DNA screening (also called cfDNA or non-invasive prenatal screening). Compared to other screening tests, cfDNA screening can detect more of the pregnancies that have higher chances for Down syndrome. However, neither ultrasound nor blood tests can confirm a diagnosis. If patients want to know for sure, they must have either CVS or amniocentesis. National medical organizations recommend that patients do not make pregnancy decisions based on blood or ultrasound tests alone.5
The medical professionals involved in providing prenatal testing and explaining the diagnosis might include any of the following: obstetricians, neonatologists, midwives, maternal-fetal medicine specialists, medical geneticists, genetic counselors, family medicine providers, or pediatricians. In some areas, nurses or physician assistants may also be involved.
Receiving news about a diagnosis can be overwhelming, and families often cope with a range of emotions during that time. Some patients also appreciate learning that Down syndrome is a natural condition that usually happens by chance and is not caused by anything they did or did not do during pregnancy.
Patients who are looking into prenatal testing might want to discuss with their health providers how they plan to use the test results. Some patients might use prenatal testing results to make delivery plans for a child with Down syndrome or to prepare emotionally. They might also use the time during pregnancy to find reliable resources on Down syndrome or undergo more testing to look for other health issues. Some patients might use a confirmed prenatal diagnosis to make pregnancy management decisions.
For all of these personal decisions, obstetric medical providers and medical genetics professionals can provide referrals to specialists, discuss all available pregnancy management options, and give patients more information. They can share valuable knowledge about and experience with people who have Down syndrome. They can also help patients consider their personal views, values, and beliefs about a diagnosis and how these affect their decision-making.
Genetic counselors and medical geneticists can be found by getting a referral from a physician or by searching online at the National Society for Genetic Counselors (nsgc.org) or the American College of Medical Genetics and Genomics (acmg.net).
Children with Down syndrome have higher chances for a variety of health issues during the first year. However, advances in healthcare have greatly improved the outcome for these medical conditions.
Newborns with Down syndrome have about a 50% chance for congenital heart issues. They also have higher chances for hearing loss or vision issues, respiratory infections, and hypothyroidism (a condition where the body does not make enough of a hormone that helps regulate certain body functions). In addition, some children with Down syndrome have feeding and digestion problems, such as constipation, duodenal atresia (the first part of the bowel is not formed properly and usually requires surgery), and Hirschsprung disease (a segment of the colon does not work properly and usually requires surgery).6 Newborns with Down syndrome may also have a blood disorder that can lead to leukemia. Yet, only about 1% of children with Down syndrome overall develop leukemia, and the cure rate for these children is very high.7
A typical newborn with Down syndrome usually has at least one of these conditions, but generally not all of them. The majority of these conditions are treatable. Most of the health issues, including heart and digestive issues, can be corrected with surgery during the first two years of life. A minority of children with Down syndrome have complex medical needs that may require more significant medical treatment. Yet, healthcare has improved greatly for people with Down syndrome in the past few decades so that the average life expectancy is about 60 years.2
Most babies with Down syndrome also have developmental delays which can be helped with supports and services. See more details in the section on “Development and Healthcare.”
For more specific information about medical issues linked with Down syndrome, please refer to the following:
For more information about ongoing research to improve the health and cognition of people with Down syndrome, please refer to the following:
Many parents are concerned about the potential impact of a child with Down syndrome on their families. Research suggests that children with Down syndrome can have a positive impact on their entire family and strengthen their family’s appreciation and empathy for others.8,9 One study also shows that the parents of children with Down syndrome have a lower overall divorce rate than other couples.10
Brothers and sisters of people with Down syndrome say that the positives typically outweigh the negatives even though older siblings may need time to adjust. According to some studies, siblings of children with Down syndrome tend to be more compassionate and well-adjusted than their peers. Most siblings also report close relationships with their brother or sister with Down syndrome.11
In addition, a study of people with Down syndrome showed that the vast majority are happy with their lives and like themselves.12
Raising a child with any disability, including Down syndrome, usually requires more time, cost, and patience.13,14 Therefore, people with Down syndrome often receive government aid for important supports and services. Families in the US can also save money in tax-free ABLE accounts for individuals with Down syndrome without losing government benefits. The funds in the account can be used for basic expenses like medical and dental care, education, community based supports, job training, assistive technology, housing, and transportation.
For more information about the experiences of families who have babies with Down syndrome, please refer to the following:
For more information about government aid and savings options for people with disabilities in the US, please refer to the following:
Early Intervention is a program that offers supports and services for children with disabilities from birth to age three. These services, such as physical or speech therapy, are usually provided by each state at no cost or for a “sliding-scale” fee. Service providers work with families to teach children how to meet developmental milestones like crawling, walking, and saying their first word. Most children with Down syndrome can accomplish these milestones, but they often take longer than typical children.15
Children with Down syndrome in the US can usually get health coverage for their medical care under regular group health plans or state programs such as Medicaid or SCHIP. However, some children may need more services than a typical health plan provides. To offset the extra costs, some states or regions completely cover healthcare for people with Down syndrome while others offer supplemental insurance programs. Some areas, however, give little additional support.
The available healthcare and development services can vary depending on where people with Down syndrome live. Expectant parents often find it helpful to speak with other families, local Down syndrome clinics and organizations, pediatricians, or local government offices about the services in an area.
For more information about state services, please refer to the following:
For more information about Down syndrome clinics, please also refer to the following:
The healthcare and development resources available to people with Down syndrome varies from country to country. Many countries have organizations that can help people with Down syndrome and their families find services they might need.
To view a list of support organizations around the world, please see the following:
Typical Children | Children with Down Syndrome | |
---|---|---|
Smiling | 0.5-3 months | 1.5-3 months |
Rolling Over | 2-10 months | 2-12 months |
Sitting | 5-9 months | 6-18 months |
Crawling | 7-13 months | 8-25 months |
Standing | 8-16 months | 10-32 months |
Walking | 8-18 months | 12-45 months |
Talking (words) | 6-14 months | 9-30 months |
Talking (sentences) | 14-32 months | 18-46 months |
Value ranges are 3% to 97%.
Federal law in the US gives children with Down syndrome the right to a free and appropriate education in the public school system. After children with Down syndrome turn three years old, they usually move from Early Intervention to pre-school services in public schools.
Because most children with Down syndrome have mild to moderate intellectual disabilities, most of them receive some special education services. Those services — such as speech therapy, small group instruction, or other help — are based on individual needs. Students with Down syndrome also commonly receive support services in a regular classroom. Those students with Down syndrome who have severe intellectual disabilities may need more substantial classroom support.
Cam Brasington, a genetic counselor, says that, “more and more [students with Down syndrome] are finishing high school and moving on to [post]secondary education … and working real jobs for real pay.”16 To date, over 330 colleges offer programs for people with intellectual disabilities. A recent study found that more than half of adults with Down syndrome were working at a paying job, about one-quarter were working at a volunteer job, and some were self-employed.17
As people with Down syndrome who have had early education and inclusive classrooms enter adulthood, they are changing the way society views the condition. It is becoming more common to see adults with Down syndrome attending college, living independently, getting married, and working in the community as professionals such as teaching and medical assistants, artists, and musicians.
For more information about education resources for students with disabilities, please refer to the following:
National Down syndrome organizations include the National Down Syndrome Society (NDSS) and the National Down Syndrome Congress (NDSC). These organizations advocate on behalf of people with this condition, provide family support, and can also give referrals to local groups. Local Down syndrome organizations can share local resources and offer contacts with other families, if desired.
For more information about Down syndrome and referrals, please see the following:
For information about a specific mosaic Down syndrome diagnosis, please see the following:
For expectant parents who are preparing for the birth of a baby with Down syndrome, please refer to the following:
Some pregnancies with Down syndrome do not come to term because of pregnancy loss (miscarriage or stillbirth) or reproductive decisions. With a prenatal diagnosis of Down syndrome, there is a somewhat increased risk of loss.2 The reason for this increase is unclear. Although it is uncertain whether any type of special testing can reduce this risk, some providers will offer more testing or exams as the pregnancy goes along.
Because pregnancy loss, regardless of the cause, can be associated with a wide range of emotions, some women appreciate resources for emotional support.2,18 Physicians can offer referrals to professional therapists, counselors, hospital centers, and grief support groups with experience in pregnancy loss and postpartum issues.
Other resources for pregnancy loss include the following:
Adoption in the US is usually handled by a state-licensed adoption agency or a private adoption lawyer. Families who are interested can explore adoption during pregnancy or after a baby is born.
Patients considering adoption can ask their medical providers for referrals to local adoption agencies, particularly ones that have experience with children who have Down syndrome. Adoption agencies offer a range of services that can include arranging the screening and selection of adoptive parents, working out the level of “openness” between the birth and adoptive parents, and giving financial help in some cases. They can also offer pre-adoption and post-placement counseling to help birth parents cope with their emotions.19
Another source of information about this process is the National Down Syndrome Adoption Network with a registry of families who are licensed and ready to adopt a child with Down syndrome. The program offers information and support to those considering adoption.
For more information about the adoption of children with Down syndrome, please refer to the following resources:
Expectant parents who learn about a prenatal Down syndrome diagnosis should receive accurate and up-to-date information about Down syndrome, including real-life experiences, common medical issues, available social services, and expected development. Patients should also receive reliable information about testing and pregnancy management. Together, obstetric medical providers, genetic counselors, medical geneticists, and Down syndrome organizations and clinics can provide a breadth of information to give patients a well-rounded understanding of Down syndrome.
1. Antonarakis S, Skotko BG, Rafii MS, Strydom A, Pape SE, Bianchi DW, Sherman SL, Reeves RH (2020). Down syndrome. Nat Rev. Dis. Primers, 6: 9.
2. de Graaf, G., Buckley, F., Skotko, B.G. (2015). Estimates of the live births, natural losses and elective terminations with Down syndrome in the United States. American Journal of Medical Genetics Part A, 167A:756–767.
3. de Graaf G, Buckley F, Skotko B. (2016). Estimation of the number of people with Down syndrome in the United States. Genetics in Medicine. 19(4):437-447.
4. Grieco, J., Pulsifer, M., Seligsohn, K., Skotko, B., Schwartz, A. (2015). Down syndrome: Cognitive and behavioral functioning across the lifespan. American Journal of Medical Genetics Part C, 169C:135-149.
5. ACOG Practice Bulletin No. 640. (2015). Cell-free DNA screening for aneuploidy. Obstet Gyneco, 126:e31- 37.
6. Bull, M. J., Trotter, T., Santoro, S. L., Christensen, C., Grout, R. W., & Council on Genetics. (2022). Health supervision for children and adolescents with Down syndrome. Pediatrics, 149(5), e2022057010.
7. Xavier, A., Taub, J. (2010). Acute leukemia in children with Down syndrome. Haematologica, 95: 1043-1045.
8. Skotko, B.G., Levine, S.P., Goldstein, R. (2011). Having a son or daughter with Down syndrome: Perspectives from mothers and fathers. American Journal of Medical Genetics Part A, 155:2335-2347.
9. Skotko, B.G., Levine, S.P., Macklin, E.A., Goldstein, R.D. (2016). Family perspectives about Down syndrome. American Journal of Medical Genetics Part A, 170(4): 930–941.
10. Urbano, R., Hodapp R. (2007). Divorce in families of children with Down syndrome: A population-based study. American Journal on Mental Retardation, 112: 261-274.
11. Skotko, B.G., Levine, S.P., Goldstein, R. (2011). Having a brother or sister with Down syndrome: Perspectives from siblings. American Journal of Medical Genetics Part A, 155:2348-2359.
12. Skotko, B.G., Levine, S.P., Goldstein, R. (2011). Self-perceptions from people with Down syndrome. American Journal of Medical Genetics Part A, 155:2360-2369.
13. Parish, S. L., Rose, R. A., Grinstein-Weiss, M., Richman, E. L., Andrews, M. E. (2008). Material hardship among U.S. families raising children with disabilities. Exceptional Children, 75(1): 72-91.
14. Kageleiry, A., Samuelson, D., Duh, M.S., Lefebvre, P., Campbell, J., Skotko, B.G. (2016). Out-of-pocket medical costs and third-party healthcare costs for children with Down syndrome. American Journal of Medical Genetics Part A. Early view online
15. Pueschel, S. M. (Ed.) (2000). A parent’s guide to Down syndrome: Toward a brighter future (2nd ed.). Baltimore, MD: Paul H. Brookes Publishing Co.
16. Brasington, C. K. (2007). What I wish I knew then...reflections from personal experiences in counseling about Down syndrome. Journal of Genetic Counseling, 16: 731-734.
17. Kumin, L., Schoenbrodt, L. (2016). Employment in adults with Down syndrome in the United States: Results from a national survey. Journal of Applied Research in Intellectual Disabilities, 29:330-345.
18. Korenromp, M.J., Page-Christiaens, G.C.M.L., van den Bout, J., et al. (2009). Adjustment to termination of pregnancy for fetal anomaly: A longitudinal study in women at 4, 8, and 16 months. Am J Obstetrics Gynecology, 201:160.
19. Perry, C.L., Henry, M.J. (2010). Exploring adoption with clients: The need for adoption education within the genetic counseling profession. Journal of Genetic Counseling, 19:305-314.