Down Syndrome

Down Syndrome

(Trisomy 21, translocation Down syndrome, mosaic Down syndrome)

If you have just found out through prenatal testing that your baby has Down syndrome or may have Down syndrome and are looking for more information, the Genetic Support Foundation is a good starting point.

There are many other important resources out there, including your doctor and genetic counselor.  We have also compiled a list of excellent resources that can provide you with additional information and support.

After reviewing the information below, If you have a question that you are having difficulty finding an answer for, please feel free to contact us.

 

Overview of important information about Down syndrome

Below is information regarding individuals with Down syndrome that may be helpful if you are finding out during the pregnancy or at birth that your baby has Down syndrome1.

  • Children with Down syndrome are more like other children than they are different.
  • Individuals with Down syndrome have a variable range of intellectual disability which is usually in the mild to moderate range
  • Babies with Down syndrome have delays in achieving developmental milestones and benefit from early intervention including physical, occupational and speech therapy.
  • Most babies with Down syndrome will have hypotonia or low muscle tone at birth. The doctor may say the baby appears “floppy”. This usually improves with time and physical therapy can help.
  • 50% of babies with Down syndrome have one or more birth defect: 40–60% of babies with Down syndrome have a heart defect and 12% have a gastrointestinal defect that may require surgery. Assistance with referrals to specialists is appropriate for identified complications.
  • Raising a child with Down syndrome may involve more time commitment than typical children.
  • Individuals with Down syndrome can participate in community sports, activities, and leagues.
  • Individuals with Down syndrome can learn in a special education class or may be included in regular classes, and most can complete high school.
  • Individuals with Down syndrome can be employed competitively or in a workshop setting.
  • Individuals with Down syndrome can live independently or in a group home.
  • Individuals with Down syndrome have friends and intimate relationships.
  • Life expectancy with Down syndrome can extend into the 50s or 60s.
  • There are many local support groups, advocacy organizations, early intervention centers, printed material, fact sheets, books available. Ask your doctor or genetic counselor to help you find the information you need.
  • There are families with Down syndrome who you can talk to and find out more information about their experiences in raising a child with Down syndrome. Ask your doctor or genetic counselor to help you get connected.
  • A personalized recurrence risk for future pregnancies can be determined, talk to your doctor or genetic counselor to find our your personal chances of having a baby with Down syndrome.

 



Down syndrome from a genetic perspective

As humans, we typically have 23 pairs of chromosomes in each of our cells or a total of 46 chromosomes. Individuals with Down syndrome have an extra copy of the material from chromosome #21. In most cases, this is due to a whole extra copy of chromosome #21, which is called Trisomy 21. This type of Down syndrome increases in incidence as mom ages. However, there are other types of Down syndrome, namely, translocation Down syndrome and mosaic Down syndrome. Regardless of what type, this extra genetic material from chromosome 21 is the reason that individuals with Down syndrome have characteristic facial features, intellectual disability and an increased risk for other birth defects and health concerns. Down syndrome is the most common chromosome abnormality seen in babies and also the most common genetic reason for intellectual disability.

Approximately 1 out of every 790 babies is born with Down syndrome, with approximately 5,300 babies with Down syndrome being born in the United States annually8. The chance of having a baby with Down syndrome (the Trisomy 21 kind) increases as a mom’s age increases. Down syndrome cannot be cured. Most cases of Down syndrome are sporadic, meaning it does not run in families. If you have one child with Down syndrome that is the sporadic type, it is unlikely that future children would also have it, although the likelihood is slightly increased. There are some cases of Down syndrome that can run in the family (when caused by a translocation), but it is rare for this to happen. In the type that runs in the family, recurrence risk or chance of future children having Down syndrome is higher. A picture of the baby’s chromosomes (karyotype) can determine if it is the type that is sporadic (Trisomy 21) or the type that runs in the family (Translocation Down syndrome).



Is there anything I can do to cause or prevent Down syndrome?

At this time, there is nothing we know of that an individual can do to cause or prevent Down syndrome. In some instances, individuals will go through genetic screening of the embryos when they are undergoing In Vitro Fertilization to screen for embryos that have extra or missing chromosomes. In some cases, women/couples decide to end a pregnancy of a diagnosis of Down syndrome is made during the pregnancy.



What are some of the physical characteristics of Down syndrome?

With regard to the characteristic facial features, you may have noticed that individuals with Down syndrome tend to resemble their birth parents, but also have similar features to other people who have Down syndrome. Facial characteristics include slanted eyes, flattened nasal bridge and smaller ears. Another common physical characteristic includes shorter height.



What are the cognitive and health issues associated with Down syndrome?

All individuals with Down syndrome have cognitive delays, but the intellectual disability is usually mild to moderate, and is only rarely severe. Sometimes individuals with Down syndrome can grow up and live fairly independently and other times they need more help throughout their life. Information on the level of cognitive delay cannot be determined by looking at the chromosomes, but becomes clearer as the child grows, develops and gets older.

There are many birth defects and health problems that occur more frequently in individuals that have Down syndrome than in those without. However, each person is unique and may or may not experience these health problems. Many of these health problems are treatable and life expectancy for individuals with Down syndrome is 50-60 years of age.

Other health concerns associated with Down syndrome include the following:

  • Congenital heart defects- approximately half of babies with Down syndrome are born with a heart defect that may or may not require open heart surgery (50%)
  • Low muscle tone (hypotonia)
  • Blockage in part of the intestine or functional problem with part of the intestine (Gastrointestinal defect) possibly requiring surgery at birth (12%)
  • One or more birth defects
  • Abnormally low thyroid hormone production requiring medication(Hypothyroidism)
  • Abnormally high thyroid hormone production (hyperthyroidism)
  • Celiac Disease
  • Vision problems
  • Hearing problems
  • Dental problems
  • Depression or behavior problems
  • Early-onset Alzheimer disease (50% by age 50)
  • Leukemia (<1%)


Down syndrome and early intervention and education

Early intervention programs for individuals with Down syndrome can help individuals with Down syndrome reach their full potential. Intervention programs may include speech, physical, occupational, and/or educational therapy.

Federal law does require that children with Down syndrome receive an appropriate education in the public school system, and they may receive support services within the regular classroom. Many individuals with Down syndrome are finishing high school and to date there are over 250 colleges offering programs for individuals with intellectual disabilities.



Do pregnancies diagnosed with Down syndrome ever result in miscarriage or stillbirth?

Studies have shown that in general, approximately 10-20% of women who know they are pregnant have a miscarriage some time before 20 weeks of pregnancy with 80% of these miscarriages occurring in the first 12 weeks of the pregnancy.

If a fetus is diagnosed with Down syndrome, there is an increased chance of fetal loss, which includes miscarriage, stillbirth or death shortly after birth. The overall chance of fetal loss depends on when in the pregnancy you find out.

In a recent study by Graaf et al.8, they estimate that if you find out at the time of CVS that your baby has Down syndrome and you are over 35 years of age, the chance of natural loss is approximately 34%; if you find out at the time of amniocentesis it goes down to approximately 27%.  For women less than 35 years of age, the natural loss rate was estimated to be 25% and 20%, respectively8. The flip side of this is that the majority of pregnancies in which the fetus is diagnosed with Down syndrome do not result in miscarriage or stillbirth.



If I have one child with Down syndrome, will my other children have it as well?

This depends on what type of Down syndrome your child has (sporadic or familial). With sporadic Down syndrome, in which the baby’s chromosomes are 47,XX/XY +21, the chances are slightly increased over your background age risk. Sporadic Down syndrome is the most common type, accounting for approximately 95% of all cases. With familial Down syndrome (which is much more rare, 3-4%), the chances of future children having it are increased. Your provider can offer you more detailed recurrence risk assessment and information.



How will a child with Down syndrome affect my family?

This is a valid question and concern for sure. Raising a child with special needs, including Down syndrome or otherwise can result in more cost and may require more time and patience2. However, research has shown that parents of children with Down syndrome have a lower overall divorce rate than other couples3 and that children with Down syndrome can have a positive effect on their family4 . (Adapted from Understanding a Down Syndrome Diagnosis5).



How do individuals with Down syndrome feel about themselves?

One research study in particular asked individuals with Down syndrome who were 12 years or older about their view of themselves so that their information could be shared with parents who have a child or are expecting child with Down syndrome6. These findings are based on this one population that was sampled, but this is what they found out….

  • The majority of people with Down syndrome are happy with their lives
  • The majority of people with Down syndrome like who they are and how they look
  • The majority of people with Down syndrome love their families, including their brothers and sisters
  • The majority of people with Down syndrome can easily make friends
  • The majority of people with Down syndrome feel that they help other people
  • Only a small percentage of people with Down syndrome feel sad about their lives, which appears to be associated, in part, to transition points of adolescence.


What is the long-term prognosis of individuals with Down syndrome?

Each individual is unique, however, this is a list of some things that are possible for individuals with Down syndrome7:

  • Participate in community sports and activities
  • Can be in mainstream/regular classes at school
  • Also may have special education classes
  • May complete high school
  • Can be employed competitively
  • Can be employed in a workshop setting
  • Independent living
  • Living in a group home
  • Have friends
  • Have intimate relationships
  • Life expectancy 50s-60s
  • More like other children than different



Online Resources

Down syndrome in the 21st Century , is a video produced by the Down Syndrome Association of Central Texas, provides an overview of Down syndrome through various stages and lives and many individual stories.

Down Syndrome Pregnancy
www.downsyndromepregnancy.org
This website is an incredible resource. Down Syndrome Pregnancy is a program administered by the National Center for Prenatal and Postnatal Resources at the University of Kentucky’s Human Development Institute. They provide honest, compassionate, medically-reviewed, and informative support for those continuing a pregnancy post-diagnosis or waiting until birth for a confirmed diagnosis.

Understanding a Down syndrome Diagnosis
www.lettercase.org
The Joseph P. Kennedy, Jr. Foundation’s Understanding a Down Syndrome Diagnosis is an accurate, balanced, and up-to-date booklet for use when delivering a diagnosis of Down syndrome and can be found at this site, along with other helpful information. This booklet prepared with assistance from the Down Syndrome Consensus Group which includes representative of The National Society of Genetic Counselors, The American College of Medical Genetics, The American Congress of Obstetricians and Gynecologists, The National Down Syndrome Society, and the National Down Syndrome Congress.

Brighter Tomorrows
http://www.brightertomorrows.org
The purpose of this site is to provide families with balanced and accurate information about receiving a diagnosis of Down syndrome either during their pregnancy or at birth.

Brighter Tomorrows for Professionals
http://www.brighter-tomorrows.org
This site aims to provide physicians with current knowledge about DS, as well as the communication tools to adequately support families and prospective parents at the point of the initial diagnosis of Down syndrome.

PALS Program
http://www.palsprograms.org/congratulations/
The Congratulations Project is an initiative in which members of the PALS family write letters to new members of the Down syndrome community. These letters are designed to inspire, encourage, welcome and, most importantly, congratulate new parents and siblings of a child with Down syndrome.

Organizations

Down Syndrome Diagnosis Network
612-460-0765, www.dsdiagnosisnetwork.org
The Down Syndrome Diagnosis Network (DSDN) supports families with current information and real-life accounts of life with Down syndrome during the prenatal to early childhood phases. DSDN has online resource for families who have learned of a Down syndrome diagnosis both prenatally or after birth. They have an active online community consisting of parents who are expecting a baby with Down syndrome or who have a child with Down syndrome.

National Down Syndrome Congress
1-800-232-6372, www.ndsccenter.org
This organization provides information, advocacy and support for individuals with Down syndrome.

National Down Syndrome Society
1-800-221-4602, www.ndss.org
This organization advocates for the value, acceptance and inclusion of people with Down syndrome.

International Mosaic Down Syndrome Association
1-855-IMDSA21,www.imdsa.org
This organization provides information and support for individuals with mosaic Down syndrome.

National Down Syndrome Adoption Network
(513) 213-9615, www.ndsan.org
This is an adoption program that matches children with Down syndrome with adoptive families.The National Down Syndrome Adoption Network provides information to birth families who may be seeking alternatives to parenting as they prepare for the arrival of their child. Making an adoption plan for a child with Down syndrome is a loving choice and can be the right choice for some families.

Sibshops                                                                                                                   www.SiblingSupport.org
This organization provides peer support and informational opportunities for brothers and sisters of people with special needs

Publications

  • American Academy of Pediatrics Committee on Genetics: Health supervision for children with Down syndrome. Pediatrics, 2011
  • Babies with Down syndrome: A New Parent’s Guide, edited by Susan J Skallerup. Woodbine House, 2008.
  • Bebés con síndrome de Down: Nueva guía para padres, compilado por Susan J Skallerup. Woodbine House, 2008.
  • Bloom: Finding Beauty in the Unexpected–A Memoir , by Kelle Hampton.  William Morrow, 2012.
  • Gifts: Mothers Reflect on How Children with Down syndrome Enrich Their Lives, edited by Kathryn Lynard Soper. Segullah Group, Inc., 2008.
  • A Good and Perfect Gift: Faith, Expectations, and a Little Girl Named Penny, by Amy Julia Becker.  Bethany House Publishers, 2011
  • Raising Henry: A Memoir of Motherhood, Disability, and Discovery, by Rachel Adams.   Yale University Press; Reprint edition, 2014
  • Road Map to Holland: How I Found My Way Through My Son’s First 2 years With Down syndrome, by Jennifer Graf Groneberg. Penguin Books Ltd., 2008.
  • The Shape of the Eye: A Memoir, by  George Estreich.  Tarcher; Reprint edition, 2013
  • What Parents Wish They’d Known: Reflections on Parenting a Child with Down syndrome, by Kathryn Lynard Soper, 2008.

References

1.  Sheets KB et al. 2011. Practice guidelines for communicating a prenatal or postnatal diagnosis of down syndrome: recommendations of the national society of genetic counselors. J Genet Couns. 20(5):432-41.

2.  Parish, SL, Rose, RA, Grinstein-Weiss, M, Richman, EL, Andrews, ME. 2008. Material hardship among U.S. families raising children with disabilities. Exceptional Children 75(1):72-91.

3.  Urbano, R, Hodapp, R. 2007. Divorce in families of children with Down syndrome: A population-based study. Am J on Mental Retardation 112:261-274.

4.  Scorgie, K, Sobsey, D. 2000. Transformational outcomes associated with parenting children who have disabilities. Mental Retardation 38:195-206.

5.  Understanding a Down Syndrome Diagnosis, www.lettercase.org

6. Skotko, BG, Levine, SP, Goldsten, R. 2011. Self-perceptions from people with Down syndrome. Am J Med Genet Part A 155:2360-2369.

7. Sheets KB, Best, RG, Brasington CK, Will MC. 2011. Balanced information about Down syndrome: what is essential? Am J Med Genet Part A 155:1246-1257.

8. de Graaf G, Buckley F, Skotko BG. 2015. Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States. Am J Med Genet Part A 167A:756-767.

9.  American Academy of Pediatrics Committee on Genetics: Health supervision for children with Down syndrome. Pediatrics, 2011


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