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Child with Down Syndrome

Down Syndrome Information and Support

What is Down Syndrome?

Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms during pregnancy and how the baby’s body functions as it grows in the womb and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.

How is Down Syndrome Diagnosed?

There are two categories of tests available to detect Down syndrome that can be performed before a baby is born: screening tests and diagnostic tests. Screening tests estimate the chances of the fetus having Down syndrome. These tests do not tell you for sure whether your fetus has Down syndrome; they only provide a probability. Diagnostic tests can provide a definitive diagnosis with almost 100% accuracy.

The screening tests available for pregnant women involve a blood test and an ultrasound. The blood tests (eg. MS-AFP, Triple Screen, Quad-Screen) measure quantities of various substances in the blood of the mother. Together with a woman’s age, are used to estimate her chance of having a child with Down syndrome. These blood tests are often performed in conjunction with a detailed ultrasound to check for “markers” such as extra fluid behind the baby’s neck.

The diagnostic procedures available for prenatal diagnosis of Down syndrome are chorionic villus sampling (CVS) and amniocentesis. These procedures, which carry up to a 1% risk of causing spontaneous termination (miscarriage), are nearly 100% accurate in diagnosing Down syndrome. Chorionic villus sampling (CVS) is performed in the first trimester between 9 and 14 weeks gestation whereas Amniocentesis is usually performed in the second trimester between 15 and 20 weeks.

Understanding a Diagnosis of Down Syndrome

What are the Different Types of Down Syndrome?

Trisomy 21: About 95% of people with Down syndrome have Trisomy 21. With this type of Down syndrome, each cell in the body has 3 separate copies of chromosome 21 instead of the usual 2 copies.

Mosaic Down Syndrome: This type affects about 2% of the people with Down syndrome. Mosaic means mixture or combination. For children with mosaic Down syndrome, some of their cells have 3 copies of chromosome 21, but other cells have the typical two copies of chromosome 21. Children with mosaic Down syndrome may have the same features as other children with Down Syndrome. However, they may have fewer features of the condition due to the presence of some (or many) cells with a typical number of chromosomes.

Translocation Down Syndrome: In translocation, which accounts for about 3% of cases of Down Syndrome, an extra copy of chromosome 21 is attached to a different chromosome rather than being a separate chromosome 21.

Some Common Physical Features of Babies with Down Syndrome

  • Low muscle tone
  • Loose joints
  • Flat facial profile
  • Small nose
  • Upward slant to the eyes
  • Small skin folds on the inner corner of the eyes
  • Short neck
  • Single, deep crease across the center of the palm
  • Gap between the big toe and the rest of the toes
  • Shorter in height as children and adults

Not all babies with Down syndrome have all these characteristics, and many of these features can be found to some extent, in individuals who do not have the condition. Even though people with Down syndrome might act and look similar, each person has differences in abilities. People with Down syndrome usually have an IQ in the mildly-to-moderately low range and are slower to speak than other children.

How Common is Down Syndrome?

Down syndrome remains the most common chromosomal condition diagnosed in the United States. Each year, about 6,000 babies born in the United States have Down syndrome. This means that Down syndrome occurs in about 1 out of every 700 babies. In Utah, an average of 77 pregnancies are affected by Down syndrome each year. This means that Down syndrome occurs in about 1 out of every 704 babies in Utah.

What Impact Does Down Syndrome Have on Society?

Individuals with Down syndrome are becoming increasingly integrated into society and community organizations, such as school, health care systems, work forces, and social and recreational activities. Individuals with Down syndrome possess varying degrees of cognitive delays, from very mild to severe. Most people with Down syndrome have cognitive delays that are mild to moderate.

Local Resources

Down Syndrome Foundation (UDSF) First Call Program
Brings families together to build a community and help individuals with Down syndrome reach their highest potential. USDF provides programs and services for parents and families as well as individuals with Down syndrome. http://www.udsf.org/ Email info@usdf.org and staff from the Utah Down Syndrome Foundation will respond within 24 hours.
www.udsf.org

Medical Genetics - University of Utah Department of Pediatrics
Provides genetic counseling and consultation for individuals of all ages.
medicine.utah.edu/pediatrics/genetics

Utah Parent Center
Help parents help their children, youth and young adults with all disabilities to live included, productive lives as members of the community by providing accurate information, empathetic peer support, valuable training and effective advocacy based on the concept of parents helping parents.
utahparentcenter.org

Utah Family Voices
Provides information, resource coordination and support to families to assist in navigating the systems of care for children and youth with special health care needs and disabilities.
www.utahfamilyvoices.org

Baby Watch Early Intervention Program
Enhances early growth development in infants and toddlers who have developmental delays or disabilities or both by providing individualized support and services to the child and their family.
health.utah.gov/cshcn/programs/babywatch

National Resources

Global Down Syndrome Foundation
Dedicated to significantly improving the lives of people with Down syndrome through research, medical care, education and advocacy.
www.globaldownsyndrome.org

Massachusetts Down Syndrome Congress First Call Program For new and expectant parents of babies with Down syndrome. Accurate, up-to-date information and opportunities to speak with parent mentors through Parents First Program.
www.mdsc.org/programs/parentsfirstcall.cfm

National Association for Down Syndrome
The National Association for Down syndrome supports all persons with Down syndrome in achieving their full potential. They seek to help families, educate the public, address social issues and challenges, and facilitate active participation.
www.nads.org

National Down Syndrome Congress
Provides information, advocacy, and support for all aspects of the lives of individuals with Down syndrome. They are the leading national resource of support and information for anyone touched by or seeking to learn about Down syndrome.
Toll Free: 800-232-NDSC (6372)
www.ndsccenter.org

National Down Syndrome Society (NDSS)
NDSS seeks to increase awareness and acceptance of those with Down syndrome.
www.ndss.org

National Society of Genetic Counselors
Learn more about genetic counseling and testing. Find a genetic counselor in your area.
aboutgeneticcounselors.com

Additional Resources

International Mosaic Down Syndrome Association
Offers support and resources to families of and individuals with mosaic Down syndrome through the lifespan.
www.imdsa.org

Medline Plus: Health Topics – Down Syndrome
This is an overview and a list of resources on Down syndrome and prenatal testing from MedlinePlus, a service of the US National Library of Medicine and the National Institutes of Health.
www.nlm.nih.gov/medlineplus/downsyndrome.html

Understanding a Down Syndrome Diagnos
Understanding a Down syndrome Diagnosis is an accurate, balanced and up-to-date booklet for use when delivering a diagnosis of Down syndrome. It is available as a free ebook from Lettercase.
www.lettercase.org

References

Birth Defects, Facts about Down Syndrome.
The Centers for Disease Control and Prevention, Division of Birth Defects and Developmental Disabilities, NCBDDD.
https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html

Publications

A Parent’s Guide to Down Syndrome: Toward A Brighter Future.
Written by Dr. Pueschel, father of a child with Down syndrome. This optimistic resource thoroughly explains Down syndrome to parents and offers valuable information on all aspects of Down syndrome, all stages of development, and all phases of life, including the transition from home to school.is written by Dr. Pueschel, father of a child with Down syndrome. This optimistic resource thoroughly explains Down syndrome to parents and offers valuable information on all aspects of Down syndrome, all stages of development, and all phases of life, including the transition from home to school.
Pueschel, S. (2000). Baltimore, MD: Brookes Publishing.
https://products.brookespublishing.com/A-Parents-Guide-to-Down-Syndrome-P272.aspx

Babies with Down Syndrome: A New Parent’s Guide (Third Edition).
Covers the best practices for raising and caring for children with Down Syndrome through age five. This new edition incorporates the latest scientific, medical, educational research, and practical information available.
Skallerup, S. (ed.) Bethesda, MD: Woodbine House. (2008)
www.woodbinehouse.com/product-category/down-syndrome

Diagnosis to Delivery:
A Pregnant Mother’s Guide to Down Syndrome.
A book specifically written for expectant mothers who are preparing for the birth of a baby with Down syndrome. It will answer pregnancy and birth questions, validate emotions, provide coping advice, and give hope for the future. Iannone, N., Meredith, S.
http://downsyndromepregnancy.org/book/diagnosis-to-delivery/

Woodbine House:
Publishes an impressive collection of low-cost books and DVDs on Down syndrome, including a Parent’s Guide (in English and Spanish) and materials for teachers.
www.woodbinehouse.com/product-category/down-syndrome

Download the NDSS new parent packet,
A Promising Future Together: A Guide for New and Expectant Parents and Un Futuro Prometedor Juntos: Una Guía Para Futuros Padres Primerizos. You can order a complimentary copy of this publication in English.
www.ndss.org/about-down-syndrome/publications
A complimentary copy of this publication in Spanish is available: Call 800-221-4602 or email info@ndss.org

Unexpected,
A collection of stories that include real-life accounts from families who have received a diagnosis of Trisomy 21 (Down syndrome). Jacob, Jennifer, July 1, 2014 eBook ia available through Amazon and Barnes & Noble and in print at
www.lulu.com/shop/jennifer-jacob/unexpected/paperback/product-21697167.html

DVDS

Down Syndrome: The First 18 Months.
A reassuring and realistic introduction to the unique joys and challenges children with Down syndrome bring to their families during the critical first 18 to 24 months of life. Director, Will Schermerhorn, was inspired to make this DVD after his son with Down syndrome was born in his pursuit of information which would comfort and empower. Blueberry Shoes Productions.
This inspiring and educational DVD is available to order through Amazon and Barnes & Noble. http://www.unitedangels.org/resource/down-syndrome-the-first-18-months/

Down Syndrome Pregnancy
Provides honest, compassionate, medically-reviewed and informative support for those preparing for the birth of a baby with Down syndrome.
http://downsyndromepregnancy.org/

Down Syndrome Diagnosis Network (DSDN)
Provides resources, education and connections to other parents.
https://www.dsdiagnosisnetwork.org/
http://www.facebook.com/DownSyndromeDiagnosisNetwork/

Gigi’s Playhouse, Layton
A Down syndrome achievement center that offers programs to individuals with Down syndrome and their families at no cost to them. Gigi’s Playhouse makes a commitment to their families and individuals to help them reach their full potential.
https://gigisplayhouse.org/layton/

Brighter Tomorrows
is a web-based resource for parents who have received a diagnosis of Down syndrome either prenatally or at birth. The site provides answers to common questions, educates about Down syndrome and shares the stories of other parents in similar situations.
www.brightertomorrows.org

Family to Family Network
A support group of the Utah Parent Center to educate, strengthen and support families of persons with disabilities.
http://www.familytofamilynetwork.org/

United Angels Foundation
Supports parents and families of individuals with special needs. Their mission is to empower parents by providing resources and community support to help them advocate for their child through each of life’s major transitions. They provide educational, social, and community programs to their members.
www.unitedangels.org

Utah Down Syndrome Foundation (UDSF)
A closed Facebook group providing hope to individuals, their families and community through support, education, activities, outreach and advocacy.
www.udsf.org
info@usdf.org

National Down Syndrome Congress (NDSC)
Dedicated to an improved world for individuals with Down syndrome. A national resource of support and information for anyone touched by or seeking to learn about Down syndrome. Toll Free: 800-232-NDSC (6372)
https://www.facebook.com/thendsc/

Center for Parent Information and Resources
Serves as a central resource of information and products to the community of Parent Training Information (PTI) Centers and Community Parent Resource Centers (CPRCs), so that they can focus their efforts on serving families of children with disabilities.
https://www.facebook.com/parentcenterhub/

Down Syndrome Support for Mommies
All ages and all walks of life in their experience with raising a child with Down syndrome. A place to meet, talk and support each other, ask questions and share advice, post pictures and stories about your child.
https://www.facebook.com/groups/downsyndromemommies/

Band of Angels
Dedicated to creating a greater understanding of the full and rich lives of people with differences by helping parents, educators, persons with disabilities and medical professionals recognize the true potential of all people. Providing information including a support group directory.
https://www.facebook.com/bandofangelsfoundation/

National Down Syndrome Society (NDSS)
Seeks to increase awareness and acceptance of those with Down syndrome.
https://www.facebook.com/NDSS1979/

National Down Syndrome Adoption Network

Their mission is to ensure that every child born with Down syndrome has the opportunity to grow up in a loving family.
For more information

 

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