Down syndrome

When one person in a family is diagnosed with Down syndrome, this does not mean that other family members need to be tested for Down syndrome as well. This is true for several reasons. First, Down syndrome is a condition which is almost always apparent at birth. Therefore, it is extremely unlikely that other family members would have Down syndrome but would not have been suspected as having it until a new baby is born in the family and diagnosed with the condition. Second, most cases of Down syndrome occur for the first time in a family in the individual who is diagnosed. If an individual is diagnosed with the standard trisomy 21 or mosaic trisomy 21 forms of Down syndrome, genetic specialists do not recommend performing chromosome testing on any other family members. This is because these forms of Down syndrome are not inherited; therefore, relatives of individuals with these forms of Down syndrome are not at increased risk to have Down syndrome as well nor are they at risk to carry chromosome rearrangements.

If an individual has been diagnosed with Down syndrome due to a Robertsonian translocation of chromosome 21, genetic specialists do recommend a chromosome karyotype (an organized image of the chromosomes within a cell obtained by microscopic evaluation) for each parent be obtained to determine if the chromosome abnormality was inherited from a parent, or if it occurred for the first time in the diagnosed individual. If neither parent of an individual with translocation Down syndrome has a translocation themselves, other family members do not need to have chromosome analysis. If one of the parents is found to carry a translocation, their family members should also consider being tested for the translocation.

National and international support groups are a great way to meet other people with Down syndrome. These groups include:

Individuals with Down syndrome are recommended to see the following specialists as needed for their specific concerns:

Down Syndrome is most often abbreviated as DS. Medical professionals also commonly abbreviate Down syndrome as T21, t21, or tri21 as a shortened version of its alternate name, "trisomy 21."

The life expectancy of someone with Down syndrome is much higher than in years past. Because of better health care, awareness, and community resources, many people with Down syndrome live into their 60s.

Down syndrome is a genetic condition in which a person has an extra copy of all or part of chromosome 21. The extra genetic material from this extra copy affects how a person develops and leads to mild to moderate intellectual disability, developmental delay, and several associated medical problems.

People with Down syndrome have common physical features including: short stature, low muscle tone, flattened face (especially the bridge of the nose), almond shaped eyes that slant upwards, small ears, a protruding tongue, a single line across the palm of the hand, and in some individuals, tiny white spots on the colored part of the eye.

The most common health problems affecting more than half of children with Down Syndrome include:

The extra copy of chromosome 21 in people with Down syndrome leads to overexpression of the genes on that chromosome. This disrupts typical physical and cognitive development and causes a person with Down syndrome to have mild to moderate intellectual disability, developmental delays, and common physical features. The development of many organ systems can be affected by the extra genetic material and there are several medical conditions that are known to be associated with Down syndrome, such as heart defects, thyroid problems, and abnormalities of the digestive system.

Down syndrome is caused by having three copies of chromosome 21 instead of two copies. There are three ways this extra copy of chromosome 21 can cause Down syndrome.

Down syndrome is mainly characterized by mild to moderate intellectual disability, developmental delay, and characteristic facial features.
These facial features include:

Individuals with Down syndrome can be mildly to severely affected by the condition. Some individuals have more significant growth and developmental delays, and some have more associated medical conditions than others. No one can predict how severely an individual with Down syndrome will be affected. There are multiple factors that can affect development beyond just the diagnosis of Down syndrome. Many of the medical concerns associated with Down syndrome can further impact growth and development. For example, a child can have chronic ear infections, which if untreated, can lead to hearing loss. This hearing loss will impact how a child learns to speak. Because of this, it is important to follow the healthcare guidelines put forth by the American Academy of Pediatrics and maintain regular follow-ups with a pediatrician and an expert in Down syndrome, most typically a developmental/behavioral pediatrician. Regular screenings can help doctors catch medical conditions impacting development early enough to minimize any additional delay.

Your child’s pediatrician does not need to be a Down syndrome specialist. Your child will need all of the routine care that a child without Down syndrome needs. However, children with Down syndrome do need a little extra care, and your child’s pediatrician should follow the health management guidelines for children with Down syndrome that have been published by the American Academy of Pediatrics. These guidelines can be found on the American Academy of Pediatrics webpage on Down syndrome. If you would like to supplement your child’s routine care with a Down syndrome specialist, a center of excellence closest to you can be found here.

A genetic counselor can provide you with more information about Down syndrome. Genetic counselors are healthcare professionals that have specialized training in medical genetics and counseling to provide personalized help to patients on their genetic health. If you are in the United States, you can find a genetic counselor using the “Find a Genetic Counselor” tool on the National Society of Genetic Counselors webpage.

As of March 2015, Down syndrome is not on the Recommended Uniform Screen Panel (RUSP). The RUSP is created by the Health Resources and Services Administration, and states use this list to guide what conditions they screen for on newborn screening. It should be noted that almost all babies with Down syndrome will be suspected as having this condition after initial examination by a pediatrician and appropriate diagnostic testing can be arranged at that time.

There is more than one test for Down syndrome, but medical experts agree that a diagnosis should be confirmed by a test known as a karyotype. A karyotype is essentially an organized image of the chromosomes within a cell obtained by microscopic evaluation. It is very important to remember that common prenatal screenings such as maternal serum screening ("quad screen") and non-invasive prenatal testing ("NIPT") are not diagnostic. Therefore, a pregnancy which has been considered high risk or at increased risk for Down syndrome by these screens needs confirmatory testing by karyotype before the diagnosis can be made. It is also important to know that there are other chromosome tests such as chromosomal microarray and fluorescent in situ hybridization (FISH) that cannot indicate the type of Down syndrome a person has. This means that while microarray and FISH can diagnose Down syndrome, they often cannot determine if mosaicism is present and they can never tell if the Down syndrome was caused by a translocation. Only a karyotype can determine all of these important pieces of information.

There are several clinical trials and research opportunities ongoing in regards to Down syndrome. You can find a list of current and past clinical trials occurring in the United States for individuals with Down syndrome at ClinicalTrials.gov. Additionally, the National Down Syndrome Society (NDSS) can help connect families and individuals with Down syndrome with additional research opportunities. For more information about this, see the research web page on the NDSS site. Finally, the Down Syndrome Research Foundation is specifically devoted to this endeavor, and can be another great resource connecting families and individuals with Down syndrome to research opportunities.

Down syndrome is not caused by anything that you did or did not do before or during pregnancy. All people with Down syndrome are born with an extra chromosome 21 in their cells. This is something that happens by chance.

There is no way to predict how severely affected a person with Down syndrome will be. Each person with Down syndrome will have their own strengths and limitations. Like people without Down syndrome, people with Down syndrome are unique. The best way to maximize your child’s potential is to take advantage of early intervention services, provide good educational opportunities, and make sure they are receiving appropriate healthcare.

There currently is no FDA-approved targeted treatment for Down syndrome, nor is there a cure. Current treatment methods focus on the specific symptoms that each person with Down syndrome has. In addition to specific treatment related to associated medical conditions such as hypothyroidism, chronic ear infections, and sleep apnea, supportive therapies such as occupational, speech, physical therapy, and sensory therapies are essential to allowing all individuals with Down syndrome to meet their maximum developmental potential.

Researchers are still working to understand how an extra copy of chromosome 21 causes the features associated with Down syndrome. The extra chromosome 21 will remain in their cells throughout the person’s life. The only way to treat Down syndrome right now is to provide early intervention services, educational opportunities, and quality health care. Additionally, Down syndrome has been the subject of a number of clinical trials. If you are interested in learning more about clinical trials on Down syndrome, please visit www.clinicaltrials.gov for up-to-date information on what these trials are studying and where they are being conducted.

Children with Down syndrome often benefit from [section id="5245″ target=”_blank”>early intervention services[/section], including physical, speech, and occupational therapies. Finding support and learning from others is also a great way to learn more about raising a child with Down syndrome. Locating a center of excellence near you, speaking with a genetic counselor, and speaking with other parents who live near you are all ways that you can build your support system and help you maximize your child’s potential.

People who already have children with Down syndrome will not necessarily have another child with Down syndrome, but their chances are increased for having another child with Down syndrome. The type of Down syndrome the child has as well as parental age are both factors that contribute to this risk. Genetic counseling is available to provide individual risk assessment and answer any questions parents may have. A genetic counselor in your area can be found by accessing the "Find a Genetic Counselor" tool on the National Society of Genetic Counselors webpage.

Most cases of Down syndrome occur for the first time in the individual diagnosed and are not inherited from the mother or the father. There is a small percentage of cases of Down syndrome that are caused by a Robertsonian translocation of chromosome 21 that is inherited from a parent. If an individual is found to have Down syndrome due to a Robertsonian translocation of chromosome 21, genetic specialists will recommend obtaining a chromosome test known as a karyotype for each parent to determine if the translocation was inherited from a parent or if it occurred for the first time in the person with Down syndrome.

If you are interested in contributing money to research for Down Syndrome, The Down Syndrome Consortium of the National Institutes of Health, maintains a list of different research organizations to which you can donate. Additionally, donations can be made to organizations which support families and individuals with Down syndrome as well as which work to advance research on this condition. Such organizations include:

Down syndrome can be diagnosed by chromosome analysis before a baby is born (prenatally) or after a baby is born (postnatally). The most common type of chromosome analysis used to diagnose Down syndrome is known as a karyotype, which is essentially an organized image of the chromosomes within a cell obtained by microscopic evaluation.

A karyotype is most often obtained prenatally on a sample of cells from amniotic fluid (via a procedure known as amniocentesis) or placental tissue known as chorionic villi (via chorionic villus sampling). There are several prenatal screenings (e.g. blood tests on the mother and ultrasound examinations) that can identify pregnancies at increased risk for Down syndrome, but these are not diagnostic and should not be relied on as final test results.

If a karyotype is performed on an individual postnatally, it is most often done on a blood sample.

If you wish to obtain more information about the specific testing used to diagnose Down syndrome, consider making an appointment with a genetic counselor. To find a local genetic counselor, use the Find a Genetic Counselor search tool on the National Society of Genetic Counselors’ website.

You can find a list of current and past clinical trials occurring in the United States for individuals with Down syndrome at the Clinical Trials website by typing “Down syndrome” in the “search for studies” field.

The National Institutes of Health also maintains The Down Syndrome Consortium that includes information about clinical trials and research in Down syndrome. This includes the nationwide Down Syndrome Registry, known as DS-Connect. http://downsyndrome.nih.gov/clinical/Pages/default.aspx

The National Down Syndrome Society also has a list of research opportunities for families and individuals with Down syndrome at http://www.ndss.org/Resources/Research/Directory-of-Current-Studies/.

The National Down Syndrome Congress also has a list of research opportunities for families and individuals with Down syndrome at http://www.ndsccenter.org/research-opportunities/.

The Down Syndrome Research Foundation also has research opportunities for families and individuals with Down syndrome at http://www.dsrf.org/.

There are several options available to find a medical group experienced with the monitoring, treatment, care, and support of individuals and families affected by Down syndrome. You can find a Down Syndrome clinic by contacting the local support groups affiliated with the National Down Syndrome Society or by searching the National Down Syndrome Congress.

The Association of University Centers on Disabilities is a membership organization that supports and promotes a national network of university-based interdisciplinary programs that include centers for excellence in developmental disabilities. You can find out more and locate these centers https://www.aucd.org/template/page.cfm?id=850″ target=”_blank”>at their website.

The Down Syndrome Consortium, part of the National Institutes of Health, can also help families locate centers specializing in caring for individuals with Down syndrome near them.

Approximately one of every 700 babies born in the United States is born with Down syndrome. Down syndrome is a condition that is considered to be “pan-ethnic.” This means that it occurs in all races and ethnicities.

A chromosome karyotype (an organized image of the chromosomes within a cell obtained by microscopic evaluation) can be obtained by testing blood, saliva, or a tissue biopsy sample. The most common way to obtain a sample to confirm a diagnosis of Down syndrome is to take a blood sample.

No one can predict how severely an individual with Down syndrome will be affected. There are multiple factors that can affect development beyond just the diagnosis of Down syndrome. Many of the medical concerns associated with Down syndrome can further impact growth and development. For example, a child can have chronic ear infections, which if untreated, can lead to hearing loss. This hearing loss will impact how a child learns to speak. Because of this, it is important to follow the healthcare guidelines put forth by the American Academy of Pediatrics and maintain regular follow-ups with a pediatrician and an expert in Down syndrome, most typically a developmental/behavioral pediatrician or a medical geneticist. Regular screenings can help doctors catch medical conditions impacting development early enough to minimize any additional delay.

Down syndrome is also known as trisomy 21, 47,XX,+21, and 47,XY,+21. Long ago, Down syndrome was referred to by the term "mongolism"; however, this is an outdated and offensive term and should no longer be used. Down’s syndrome is also no longer used as the apostrophe is being eliminated from names.

There are many excellent support groups dedicated to serving individuals and families of people with Down syndrome:

Down Syndrome is a life-long condition that is always present from birth. There is a range of severity in how affected individuals with Down syndrome will be, but there is no way for doctors to predict this. Proactive treatment of any medical conditions that an individual has, including common health problems associated with Down syndrome as well as early intervention with physical therapy, speech therapy, and occupational therapy can help each person with Down syndrome reach their full potential.