What is Down syndrome?

Down syndrome is a genetic condition that causes delays in physical and intellectual development. It occurs in approximately one in every 700 live births. Individuals with Down syndrome have an extra copy of the 21st chromosome that affect some or all cells. It is the most frequently occurring chromosomal disorder. Down syndrome is not related to race, nationality, religion or socioeconomic status. The most important fact to know about individuals with Down syndrome is that they are more like others than they are different.

How is Down syndrome diagnosed?

Down syndrome is usually identified at birth or shortly thereafter. Initially the diagnosis is based on physical characteristics that are commonly seen in babies with Down syndrome. These include low muscle tone, a single crease across the palm of the hand, a slightly flattened facial profile and an upward slant to the eyes. The diagnosis must be confirmed by a chromosome study known as a karyotype.

Is there a prenatal diagnosis for Down syndrome?

Two types of procedures are available to pregnant women: screening tests and diagnostic tests. The screening tests estimate the risk of the baby having Down syndrome. Diagnostic tests tell whether or not the baby actually has Down syndrome.

Screening Tests

  • A common screening test is “The Triple Screen.” This is a combination of three tests that measure quantities of various substances in the blood. These tests are usually done between 15 and 20 weeks of gestation.

  • In 2011, the “MaterniT21″ screening test was introduced in the Central Texas market, manufactured by Sequenom. Other biomedical companies, such as Ariosa and Verinata, may soon market screening tests in Central Texas as well. These new screening tests sample for fetal DNA in the mother’s blood and are more accurate than the older “Triple Screen” test. They are still considered screening tests, however, and do not provide certainty about whether the fetus actually has Down syndrome.

  • Sonograms (ultrasounds) are usually performed in conjunction with other screenings. These can show some physical traits that are helpful in calculating the risk of Down syndrome.

  • Screening tests do not accurately confirm the diagnosis of Down syndrome. In fact, false positives and false negatives can occur.

Diagnostic Tests

Three diagnostic tests are currently available:

  • Amniocentesis which is performed between 12 and 20 weeks gestation.

  • Chorionic Villus Sampling (CVS) which is conducted between 8 and 12 weeks gestation.

  • Percutaneous Umbilical Blood Sampling (PUBS) which is performed after 20 weeks gestation.

What causes Down Syndrome?

Down syndrome is usually caused by an error in cell division called non-disjunction. It is not known why this occurs. However, it is known that the error occurs at conception and is not related to anything the mother did during pregnancy. Statistically the incidence of Down syndrome increases with advancing maternal age. However, 80% of children with Down syndrome are born to women under 35 years of age.

My baby has just been diagnosed with Down Syndrome/I’ve just received a prenatal diagnosis. What do I do now?

DSACT has a New Parent Program where a trained New Parent Coordinator who is a parent of a baby with Down syndrome will call you to welcome you to the DSACT community, answer your questions, and tell you about DSACT’s programs and services. DSACT is here to support you, share resources, provide you with information and discuss the joys as well as the challenges you may face. Call DSACT at (512) 323-0808 or see our New Parent Program for more details.

How can DSACT help my family?

DSACT offers year-round programs for children with Down syndrome and their families. Programs include the PEAK Speech Therapy program, social gatherings, and recreational classes such as Gymboree, fitness bootcamp, performing arts, and martial arts. Young adults may attend informal classes at UT. Social groups for children ages 0-2, 3-5, 6–12, teenagers, and adults meet monthly. For more information on classes and groups, please visit our Recreational Programs and Social Groups pages. Through DSACT’s social, educational, recreational programs and events, DSACT members connect and form lifelong friendships.

DSACT also offers educational events throughout the year for parents, guardians, and the community. Presentations for schools and other organizations are available upon request. For more information about educational resources for parents/families, click here. To request a school/community presentation, please contact DSACT Peggy Wolf at peggy.wolf@dsact.org or (737) 932-5551.

How does Down Syndrome affect learning and development?

It is important to remember that while children and adults with Down syndrome experience developmental delays, they also have many talents and gifts and should be given the opportunity and encouragement to develop them.

Most children with Down syndrome have mild to moderate impairments but it is important to note that they are more like other children than they are different. Early Intervention services should be provided shortly after birth. These services should include physical, speech and developmental therapies. Most children attend their neighborhood schools, some in regular classes and others in special education classes. Some children have more significant needs and require a more specialized program. Some high school graduates with Down syndrome participate in post-secondary education. Many adults with Down syndrome are capable of working in the community, but some require a more structured environment.

View this presentation for more information about supporting people with Down syndrome in the community.

Are there health issues with Down Syndrome?

Many children with Down syndrome have health complications beyond the usual childhood illnesses. Approximately 40% of the children have congenital heart defects. It is very important that an echocardiogram be performed on all newborns with Down syndrome in order to identify any serious cardiac problems that might be present. Some of the heart conditions require surgery while others only require careful monitoring. Children with Down syndrome have a higher incidence of infection, respiratory, vision and hearing problems as well as thyroid and other medical conditions. However, with appropriate medical care most children and adults with Down syndrome can lead healthy lives. The average life expectancy of individuals with Down syndrome is 60 years, with many living beyond this age. A child’s pediatrician should be aware of “Health Care Guidelines for Individuals with Down Syndrome“.

Adoption Resources

We provide the following resources as a service to those families who may be considering adoption as an option.

National Down Syndrome Adoption Network

The National Down Syndrome Adoption Network is a non-profit program that offers support and information to parents whose child has received a diagnosis of Down syndrome, and may be considering an adoption plan for their child.

ReeCe's Rainbow

Reece's Rainbow is a non-profit organization who's mission is to advocate and find families for orphans with Down syndrome and other special needs by raising funds for adoption grants and promoting awareness through an online community, media communications, and other events.