These tests are not invasive like the diagnostic tests below , but they provide a high accuracy rate. Still, all of these screens will not definitively diagnose Down syndrome. Prenatal screening and diagnostic tests are now routinely offered to women of all ages. The diagnostic procedures available for prenatal diagnosis of Down syndrome are chorionic villus sampling CVS and amniocentesis.
Amniocentesis is usually performed in the second trimester between 15 and 20 weeks of gestation, CVS in the first trimester between 9 and 14 weeks. Down syndrome is usually identified at birth by the presence of certain physical traits: low muscle tone, a single deep crease across the palm of the hand, a slightly flattened facial profile and an upward slant to the eyes.
Because these features may be present in babies without Down syndrome, a chromosomal analysis called a karyotype is done to confirm the diagnosis. They photograph the chromosomes and then group them by size, number, and shape. By examining the karyotype, doctors can diagnose Down syndrome. Another genetic test called FISH can apply similar principles and confirm a diagnosis in a shorter amount of time. 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. Due to advances in medical technology, individuals with Down syndrome are living longer than ever before. In , children with Down syndrome were expected to survive to age nine. With the discovery of antibiotics, the average survival age increased to 19 or More and more Americans are interacting with individuals with Down syndrome, increasing the need for widespread public education and acceptance.
These downloadable versions of the Preferred Language Guide are available to print and distribute:. Donate to NDSS. What is Down Syndrome? How Common is Down Syndrome? When Was Down Syndrome Discovered? Support NDSS The National Down Syndrome Society envisions a world in which all people with Down syndrome have the opportunity to enhance their quality of life, realize their life aspirations and become valued members of welcoming communities.
Public and private schools support people with Down syndrome and their families with integrated classrooms and special education opportunities. Schooling allows valuable socialization and helps students with Down syndrome build important life skills. The lifespan for people with Down syndrome has improved dramatically in recent decades. Today , life expectancy for people with Down syndrome has reached an average of 50 to 60 years.
In addition to larger concerns — like heart defects and leukemia — people with Down syndrome may need to be guarded from common infections such as colds. People with Down syndrome are living longer and richer lives now more than ever. Though they can often face a unique set of challenges, they can also overcome those obstacles and thrive.
Building a strong support network of experienced professionals and understanding family and friends is crucial for the success of people with Down syndrome and their families. In Down syndrome, an extra copy of the 21st chromosome can develop, which can result in the telltale symptoms of the developmental and intellectual….
Karyotyping is a lab procedure that helps your doctor examine your chromosomes. Learn about symptoms and…. Health Conditions Discover Plan Connect. Down Syndrome. Medically reviewed by Karen Gill, M. What causes Down syndrome?
Low muscle tone may also contribute to sucking and feeding problems, as well as gastroesophageal reflux and constipation. At birth, kids with Down syndrome are smaller than other newborns, and they tend to grow at a slower rate and remain smaller than their peers. Toddlers and older kids may have delays in speech and self-care skills like feeding, dressing, and using the toilet.
Down syndrome affects kids' ability to learn in different ways, but most have mild to moderate intellectual disability. Kids can and do learn, and can develop skills throughout their lives. They just reach goals at a different pace. So it's important not to compare a child with Down syndrome to typically developing siblings or even other children with the condition. Kids with Down syndrome have a wide range of abilities, and there's no way to tell at birth what they can do as they grow up.
Some kids with Down syndrome have no serious health problems. But others may have a mix of medical issues that need extra care. Many go to clinics that specialize in caring for those with Down syndrome. Almost half of all children born with Down syndrome will have a congenital heart defect.
All infants with Down syndrome should be checked by a pediatric cardiologist. About half of all kids also have problems with hearing and vision. Hearing loss can be related to fluid buildup in the inner ear or to structural problems of the ear itself. Vison and hearing problems can affect language and learning. Regular checkups by an otolaryngologist ear, nose, and throat doctor , audiologist, and an ophthalmologist can find and correct any problems.
Children may need to see other medical specialists, depending on their needs. Medical problems that happen more often with Down syndrome include:.
People with Down syndrome sometimes have an unstable upper spine and should be checked by a doctor every year or sooner if they have symptoms, such as neck pain, walking funny, or loss of bladder or bowel control. It's caused by a mistake in cell division during early development of the fetus. Translocation Down syndrome can be passed from parent to child. However, only about 3 to 4 percent of children with Down syndrome have translocation and only some of them inherited it from one of their parents.
When balanced translocations are inherited, the mother or father has some rearranged genetic material from chromosome 21 on another chromosome, but no extra genetic material. This means he or she has no signs or symptoms of Down syndrome, but can pass an unbalanced translocation on to children, causing Down syndrome in the children. People with Down syndrome can have a variety of complications, some of which become more prominent as they get older. These complications can include:.
For people with Down syndrome, getting routine medical care and treating issues when needed can help with maintaining a healthy lifestyle. Life spans have increased dramatically for people with Down syndrome.
Today, someone with Down syndrome can expect to live more than 60 years, depending on the severity of health problems. There's no way to prevent Down syndrome. If you're at high risk of having a child with Down syndrome or you already have one child with Down syndrome, you may want to consult a genetic counselor before becoming pregnant. A genetic counselor can help you understand your chances of having a child with Down syndrome.
He or she can also explain the prenatal tests that are available and help explain the pros and cons of testing. Our patients tell us that the quality of their interactions, our attention to detail and the efficiency of their visits mean health care like they've never experienced. See the stories of satisfied Mayo Clinic patients.
Randi, Simon and Brian Beyerl For new parents of babies born with Down syndrome, the educational brochures that were at their disposal made them feel less than hopeful. Mayo Clinic's Office of Patient Education knew they could do better, so a team set about creating new materials to provide families with a more optimistic outlook.
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