Down Syndrome (Trisomy 21)
What is Down syndrome, and what causes it?
Down syndrome is a genetic disorder. Most people have 46 chromosomes in each cell. Children with Down syndrome have 47 chromosomes. They have an extra copy of chromosome 21. Normally, we inherit 23 chromosomes from our mother and 23 chromosomes from our father (for a total of 46). Babies with Down syndrome inherit an extra copy of chromosome 21 leading to 3 copies (one from Mom, one from Dad, plus one extra). We call this Trisomy 21.
Some children have mosaic Down syndrome or mosaicism. In this type of Down syndrome, not all cells have the extra chromosome, which can result in the child being less severely affected.
To learn more about genetics and to better understand how genes cause syndromes, see YourChild: Genetic Syndromes.
How common is Down syndrome?
Down syndrome is the most common single cause of human birth defects. About 1 out of every 660 babies is born with Down syndrome.[1]
Down syndrome can either be diagnosed in utero (via amniocentesis) or, most commonly, after birth. After birth, it can usually be diagnosed based on distinctive physical features:
- small head (microcephaly)
- flat face
- upward slanted eyes
- single deep crease across the palm of hand, and short fingers
- wide space between the big toe and second toe
- hypotonia (low muscle tone)
- mouth tends to stay open with tongue sticking out
The baby’s blood can be tested to confirm the Trisomy 21.
Where do we get started as new or expectant parents of a baby with Down syndrome?
A good starting place is downloading, printing, and reading the brochure A Promising Future Together: A guide for new and expectant parents from the National Down Syndrome Society. This brochure addresses many issues including health concerns, growth and development, early intervention, finding support, and family and sibling dynamics. It also includes resource lists at the end of each section. You can also watch the video: A Promising Future Together.
- Check out the DVD Down syndrome: The First 18 Months, directed by will Schermerhorn, from Blueberry Shoes Productions.
This film came out in 2003, and covers everything new parents need to know in the first 18-24 months—all covered in a positive and empowering way. Features interviews with experts and parents, and footage of adorable babies.
- In Spanish: Futuros Padres y Padres Primerizos from the National Down Syndrome Society.
How will my child grow and develop?
Most children with Down syndrome will learn to walk, speak, think, and solve problems in their own time. Most have some degree of intellectual disability.
They generally grow more slowly, learn more slowly, and have more trouble with reasoning and judgment than other children. They often have a short attention span. They might be impatient, and quick to grow frustrated or angry.
Children with Down syndrome generally should not be compared in their development with other children. Here are resources for growth and developmental milestones unique to children with Down syndrome:
- The American Academy of Pediatrics has developed information for pediatricians to guide them in their office visits with kids with Down syndrome. This information may be helpful to parents in knowing what to expect at the visits at different ages. It also contains Down syndrome growth chart, a bibliography and resources for new parents.
- More Down syndrome growth charts, with explanations.
What do I need to think about as my child enters the teen years and adulthood?
As your child matures, you will need to address their transition to adulthood. The following links cover social, legal, financial, and independence issues, sexuality, employment, and transition planning for life after high school:
- Transition planning information from the NDSS.
- Sample IEP transition goals
- Footprints for the Future is a planning notebook in both English and Spanish. You can download it from NDSS.
- Benefits, Assets and Life Planning discusses legal and financial considerations of planning
- Sexuality in Down Syndrome (For more resources, see also YourChild: Sexuality and Kids with Disabilities or Chronic Illness)
- The book Teaching Children with Down Syndrome about Their Bodies, Boundaries, and Sexuality, by Terri Couwenhoven, is written in an easy-to-read style by a sexuality educator who has a child with Down syndrome. It covers issues such as emotions, personal space, self-care, privacy, affection, puberty, sexual relationships, preventing abuse, and more.
What are the health concerns for children with Down syndrome?
Children with Down syndrome are more likely to have heart defects, gastrointestinal (gut) blockages, and also have a higher likelihood of leukemia than kids without Down syndrome.
This fact sheet about Down syndrome has a helpful review of the common health problems you need to know about.
What are the treatments and therapies my child might benefit from?
There is no cure for Down syndrome, but there are many treatments that can help your child.
- Early intervention in the pre-school years can make their best possible progress. See YourChild: Developmental Delay for more information about how to get started in an early intervention program. In Michigan, the early intervention program is called Early On. Call the referral line at 1-800-EARLY-ON or 1-800-327-5966.
- To reach their full potential, your child may need speech and language therapy, occupational therapy, and physical therapy.
- Special education programs should fit your child's individual needs to modify classes and assignments. Children should be integrated into regular education whenever possible.
- The University of Michigan Health System offers a unique clinic to provide coordinated care to address the needs of children and adults with Down syndrome. Find out more in this U of M Health Minute.
What books and DVDs about Down syndrome might be helpful?
- This Down syndrome resource list includes recommended books for both children and adults.
- The Topics in Down Syndrome Series has many helpful titles:
- Teaching Children with Down Syndrome about Their Bodies, Boundaries, and Sexuality, by Terri Couwenhoven.
- Early Communication Skills in Children with Down Syndrome, by Libby Kumin.
- Communication Skills in Children with Down Syndrome: A Guide for Parents, by Libby Kumin.
- Down Syndrome Nutrition Handbook: A Guide to Promoting Healthy Lifestyles, by Joan Medlen.
- Gross Motor Skills in Children with Down Syndrome: A Guide for Parents and Professionals, by Patricia C. Winders.
- Fine Motor Skills for Children With Down Syndrome: A Guide for Parents And Professionals, by Maryanne Bruni.
- Teaching Math to People With Down Syndrome and Other Hands-On Learners: Basic Survival Skills—Book 1, by DeAnna Horstmeier.
- Teaching Math to People with Down Syndrome and Other Hands-On Learners: Advanced Survival Skills—Book 2, by DeAnna Horstmeier.
- Teaching Reading to Children With Down Syndrome: A Guide for Parents and Teachers, by Patricia Logan Oelwein.
- Classroom Language Skills for Children with Down Syndrome: A Guide for Parents and Teachers, by Libby Kumin.
- Medical & Surgical Care for Children With Down Syndrome: A Guide for Parents, by Mattheis Philip, Susan Eberly, Don Van Dyke, and Janet Williams.
- Babies with Down Syndrome: A New Parents' Guide, edited by Karen Stray-Gundersen.
This book is chock-full of information that is helpful to parents of a child with Down syndrome. It does discuss all the possible medical problems, which can be scary for new parents.
- Bebés con síndrome de Down: Guía para padres, Compilado por Karen Stray-Gundersen.
El libro al cual miles de padres y profesionales han recurrido como fuente primaria de información sobre el síndrome de Down está ahora disponible en español. - Blueberry Shoes Productions has produced a number of films relating to Down syndrome. Find them and view clips at the Blueberry Shoes site.
- YourChild: Genetic Syndromes
- YourChild: Developmental Delay has lots of information about early intervention, individualized education plans, special education, and transition to adulthood.
- YourChild: Siblings of Kids with Special Needs
- YourChild: Chronic Conditions
- YourChild: Sexuality and Kids with Disabilities or Chronic Conditions
- Down Syndrome from the National Institute of Child Health and Human Development (NICHD) has comprehensive basic information.
- El síndrome de Down from NICHCY, also available in pdf.
- The National Down Syndrome Society (NDSS) promotes research, education and advocacy to increase public awareness about Down syndrome and discover its underlying causes.
- The Spanish section of the NDSS site has general information, and information about health and development.
- The mission of the Canadian Down Syndrome Society (CDSS) is to enhance the quality of life for all people who have Down syndrome through advocacy, education and providing information.
- The National Down Syndrome Congress (NDSC) is a national advocacy organization for Down syndrome that strives to provide support and empowerment to persons with Down syndrome and their families.
- The National Association for Down Syndrome focuses mainly on the Chicago area. They work to: promote an environment that fosters the growth and development of people with Down syndrome to enable them to achieve their full potential; to provide support and information on Down syndrome to parents; and to disseminate up-to-date information on Down syndrome.
- The Down Syndrome Research Foundation (DSRF), based in Canada, promotes research to understand the unique learning style of people with Down syndrome. The DSRF uses research findings to pilot and test interventions and educational programs.
- Here's some Down syndrome information just for kids. It’s also in Spanish.
- The Arc is the national organization of and for people with intellectual disabilities and their families. They work for supports and services for people with intellectual disabilities and their families, and also promote research and education for the prevention of intellectual disabilities in infants and young children.
- Find your local chapter of The Arc.
- The University of Michigan Center for Motor Behavior & Pediatric Disabilities does research on how people with Down syndrome (and cerebral palsy and spina bifida) move, and works to develop ways to help them improve their motor skills. Their website offers example motor behavior goals and information on promoting walking. They are actively seeking participants for their research studies. Find out more in this UM Health Minute.
- Down syndrome on Medline Plus has links to more useful information, including Spanish language web pages.
Reference:
[1] Down syndrome. Medline Plus Medical Encyclopedia. Available at: http://www.nlm.nih.gov/medlineplus/ency/article/000997.htm. Accessed 22 January 2007.
Compiled by Kyla Boyse, R.N. Reviewed by faculty and staff at the University of Michigan.
Updated November 2009
U-M Health System Related Sites:
U-M Pediatrics
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