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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 are born with Down syndrome.[1]
How is it diagnosed?
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.
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 cognitive 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 can be very impatient and get frustrated and 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:
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 about Down syndrome might be helpful?
This Down
syndrome resource list includes recommended books for both
children and adults.
What are some other sources of information and support?
- 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 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 which 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.
- 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 mental retardation
and related developmental disabilities and their families. They
work for supports and services for people with mental retardation
and their families, and also promote research and education for
the prevention of mental retardation in infants and young children.
- The University
of Michigan Center for Motor Behavior in Down Syndrome does
research on how people with Down syndrome 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 U
of M Health Minute.
- Down
Syndrome Quarterly is an interdisciplinary journal. They
have published a few interesting articles on their website.
- Down syndrome on Medline Plus has links to more useful information, including Spanish language Web pages.
- Project
Perform provides advocacy for Michigan children with special
needs. The have a lending library, can refer you to local support
groups, and can provide a Down syndrome information/resource
folder. Their Web site offers a page of information and resources on Down syndrome.
Still have questions about this topic? Go to
our survey to ask your questions, and we’ll try
to answer them on an upcoming
YourChild podcast.
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Citations
Written and compiled by Kyla Boyse, R.N. Reviewed by faculty and staff at the University of Michigan
Updated January 2007
U-M Health System Related Sites:
U-M Pediatrics
C.S. Mott Children's Hospital
Our editorial policy
The information and links we provide are reviewed by University of Michigan developmental and behavioral pediatricians and child psychologists who are experts in child behavioral health. In choosing the links we provide, we use strict criteria to ensure that the information is accurate, and the source is reputable. As much as possible, we focus on information that is based on research. In areas where there is inadequate research, we include information compatible with prevailing expert opinion.
This website is updated regularly, but because of the dynamic nature of the Internet, we cannot be responsible for misinformation that may be accessed through the links provided. As always, this website is not a tool for self-diagnosis, and is not a substitute for professional care.
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