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Down syndrome is a genetic condition that is caused when the nucleus in a person's cells has an extra copy of chromosome 21. People who have Down Syndrome are also diagnosed with intellectual disabilities which can range from different levels. These levels are usually mild to moderate. Individuals with Down Syndrome also tend to take longer to reach developmental milestones, but physical and speech therapy can improve functions. It is also important to remember that each person with Down Syndrome is still their own individual, so it is wrong to make assumptions about someone who has Down Syndrome.

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This site includes a lot of information about Down Syndrome. This site goes into detail about how Down Syndrome occurs and what causes it, the history of Down Syndrome and when people actually started researching it, and how Down Syndrome is diagnosed. It also answers some questions that people may have about Down Syndrome. This site also shows some scholarships and grants that are available to students who have been diagnosed with Down Syndrome.

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In every cell in the human body there is a nucleus, where genetic material is stored in genes. Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes. Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21.

This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome. A few of the common physical traits of Down syndrome are low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm - although each person with Down syndrome is a unique individual and may possess these characteristics to different degrees, or not at all.

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How common is Down syndrome?

According to the Centers for Disease Control and Prevention, approximately one in every 772 babies in the United States is born with Down syndrome, making Down syndrome the most common chromosomal condition. About 5,100 babies with Down syndrome are born in the United States each year. (De Graaf et al., 2022).

When was Down syndrome discovered?

Are there different types of Down syndrome?

What is the likelihood of having a child with Down syndrome?

Down syndrome occurs in people of all races and economic levels, though older women have an increased chance of having a child with Down syndrome. A 35-year-old woman has about a one in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to 1 in 100 by age 40. At age 45 the incidence becomes approximately 1 in 30. The age of the mother, or birthing parent, does not seem to be linked to the risk of translocation.

Since many couples are postponing parenting until later in life, the incidence of Down syndrome conceptions is expected to increase. Therefore, genetic counseling for parents is becoming increasingly important. Still, many physicians are not fully informed about advising their patients about the incidences of Down syndrome, advancements in diagnosis, and the protocols for care and treatment of babies born with Down syndrome.

What impact does Down syndrome have on society?

Individuals with Down syndrome are becoming increasingly integrated into society and community organizations, such as schools, 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 1910, children with Down syndrome were expected to survive to age nine. With the discovery of antibiotics, the average survival age increased to 19 or 20. Now, with recent advancements in clinical treatment, most particularly corrective heart surgeries, as many as 80% of adults with Down syndrome reach age 60, and many live even longer (Down syndrome, 2018). More and more Americans are interacting with individuals with Down syndrome, increasing the need for widespread public education and acceptance.

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In every cell in the human body there is a nucleus, where genetic material is stored in genes. Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes. Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent.

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Mayo Clinic is a very good website that goes into detail about a lot of questions people may have about Down Syndrome. It explains many of the symptoms of Down Syndrome. This site also explains the causes of Down Syndrome, complications that may occur, and the risk factors.

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Overview

Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. This extra genetic material causes the developmental changes and physical features of Down syndrome.

Down syndrome varies in severity among individuals, causing lifelong intellectual disability and developmental delays. It's the most common genetic chromosomal disorder and cause of learning disabilities in children. It also commonly causes other medical abnormalities, including heart and gastrointestinal disorders.

Better understanding of Down syndrome and early interventions can greatly increase the quality of life for children and adults with this disorder and help them live fulfilling lives.

Symptoms

Each person with Down syndrome is an individual - intellectual and developmental problems may be mild, moderate or severe. Some people are healthy while others have significant health problems such as serious heart defects.

Children and adults with Down syndrome have distinct facial features. Though not all people with Down syndrome have the same features, some of the more common features include:

Flattened face

Small head

Short neck

Protruding tongue

Upward slanting eye lids (palpebral fissures)

Unusually shaped or small ears

Poor muscle tone

Broad, short hands with a single crease in the palm

Relatively short fingers and small hands and feet

Excessive flexibility

Tiny white spots on the colored part (iris) of the eye called Brushfield's spots

Short height

Infants with Down syndrome may be average size, but typically they grow slowly and remain shorter than other children the same age.

Intellectual disabilities

Most children with Down syndrome have mild to moderate cognitive impairment. Language is delayed, and both short and long-term memory is affected.

When to see a doctor

Children with Down syndrome usually are diagnosed before or at birth. However, if you have any questions regarding your pregnancy or your child's growth and development, talk with your doctor.

Causes

Human cells normally contain 23 pairs of chromosomes. One chromosome in each pair comes from your father, the other from your mother.

Down syndrome results when abnormal cell division involving chromosome 21 occurs. These cell division abnormalities result in an extra partial or full chromosome 21. This extra genetic material is responsible for the characteristic features and developmental problems of Down syndrome. Any one of three genetic variations can cause Down syndrome:

Trisomy 21. About 95 percent of the time, Down syndrome is caused by trisomy 21 - the person has three copies of chromosome 21, instead of the usual two copies, in all cells. This is caused by abnormal cell division during the development of the sperm cell or the egg cell.

Mosaic Down syndrome. In this rare form of Down syndrome, a person has only some cells with an extra copy of chromosome 21. This mosaic of normal and abnormal cells is caused by abnormal cell division after fertilization.

Translocation Down syndrome. Down syndrome can also occur when a portion of chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception. These children have the usual two copies of chromosome 21, but they also have additional genetic material from chromosome 21 attached to another chromosome.

There are no known behavioral or environmental factors that cause Down syndrome.

Is it inherited?

Most of the time, Down syndrome isn't inherited. 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.

Risk factors

Some parents have a greater risk of having a baby with Down syndrome. Risk factors include:

Advancing maternal age. A woman's chances of giving birth to a child with Down syndrome increase with age because older eggs have a greater risk of improper chromosome division. A woman's risk of conceiving a child with Down syndrome increases after 35 years of age. However, most children with Down syndrome are born to women under age 35 because younger women have far more babies.

Being carriers of the genetic translocation for Down syndrome. Both men and women can pass the genetic translocation for Down syndrome on to their children.

Having had one child with Down syndrome. Parents who have one child with Down syndrome and parents who have a translocation themselves are at an increased risk of having another child with Down syndrome. A genetic counselor can help parents assess the risk of having a second child with Down syndrome.

Complications

People with Down syndrome can have a variety of complications, some of which become more prominent as they get older. These complications can include:

Heart defects. About half the children with Down syndrome are born with some type of congenital heart defect. These heart problems can be life-threatening and may require surgery in early infancy.

Gastrointestinal (GI) defects. GI abnormalities occur in some children with Down syndrome and may include abnormalities of the intestines, esophagus, trachea and anus. The risk of developing digestive problems, such as GI blockage, heartburn (gastroesophageal reflux) or celiac disease, may be increased.

Immune disorders. Because of abnormalities in their immune systems, people with Down syndrome are at increased risk of developing autoimmune disorders, some forms of cancer, and infectious diseases, such as pneumonia.

Sleep apnea. Because of soft tissue and skeletal changes that lead to the obstruction of their airways, children and adults with Down syndrome are at greater risk of obstructive sleep apnea.

Obesity. People with Down syndrome have a greater tendency to be obese compared with the general population.

Spinal problems. Some people with Down syndrome may have a misalignment of the top two vertebrae in the neck (atlantoaxial instability). This condition puts them at risk of serious injury to the spinal cord from overextension of the neck.

Leukemia. Young children with Down syndrome have an increased risk of leukemia.

Dementia. People with Down syndrome have a greatly increased risk of dementia - signs and symptoms may begin around age 50. Having Down syndrome also increases the risk of developing Alzheimer's disease.

Other problems. Down syndrome may also be associated with other health conditions, including endocrine problems, dental problems, seizures, ear infections, and hearing and vision problems.

For people with Down syndrome, getting routine medical care and treating issues when needed can help with maintaining a healthy lifestyle.

Life expectancy

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.

Prevention

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.

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Down syndrome is a genetic disorder caused when abnormal cell division results in extra genetic material from chromosome 21.

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This is a great site that shows the amount of support that there is for students who have been diagnosed with Down Syndrome. This site is very interesting and informative because it not only shows supports that are available to people with Down Syndrome, but it also offers support to their families and families who are expecting to have children who have Down Syndrome.

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Down Syndrome Association of Greater St. Louis

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HOME - Down Syndrome Association of Greater St. Louis

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We’re Here Every Step of the Way The Down Syndrome Association of Greater St. Louis serves, supports, and celebrates the lives of individuals with Down syndrome and their families, through every stage of life. DONATE TODAY Facebook Instagram Youtube DSAGSL HAS MOVED! The DSAGSL headquarters has moved one block away to 1201 Hanley Industrial Ct. Suite […]

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This site has many different sections that discuss Down Syndrome. It shows that people with Down Syndrome are still people and should be treated like human beings. this site shows that people with Down Syndrome have the right to work and have jobs, the right to an education, and the same human rights as everyone else. It also offers a PDF to download that discusses information about Down Syndrome as a way to educate people.

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About Down syndrome – Down Syndrome International

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In this space we provide information about some of the topics relevant to people with Down syndrome.