Down Syndrome

'Dark genome' is involved in Rett Syndrome

Researchers at the Epigenetics and Cancer Biology Program at IDIBELL led by Manel Esteller, ICREA researcher and professor of genetics at the University of Barcelona, have described alterations in noncoding ...

Genetics created May 02, 2013 | popularity 3 / 5 (2) | comments 0

Embryonic stem cell transplant restores memory, learning in mice

For the first time, human embryonic stem cells have been transformed into nerve cells that helped mice regain the ability to learn and remember. A study at the University of Wisconsin-Madison is the first ...

Medical research created Apr 21, 2013 | popularity 4.4 / 5 (8) | comments 6 | with audio podcast

Cholesterol increases risk of Alzheimer's and heart disease

Researchers at the Linda Crnic Institute for Down Syndrome and the University of Colorado School of Medicine have found that a single mechanism may underlie the damaging effect of cholesterol on the brain and on blood vessels.

Medical research created Apr 15, 2013 | popularity 3 / 5 (2) | comments 0 | with audio podcast

US state moves forward on strictest abortion laws (Update)

North Dakota moved closer Friday to having the strictest abortion laws in the U.S., with its House of Representatives approving a measure that would outlaw the procedure after 20 weeks of pregnancy based on the disputed premise ...

Health created Apr 12, 2013 | popularity not rated yet | comments 1

ACMG releases statement on noninvasive prenatal screening

The American College of Medical Genetics and Genomics (ACMG) has just released an important new Policy Statement on "Noninvasive Prenatal Screening for Fetal Aneuploidy." The Statement can be found in the Publications section ...

Other created Apr 08, 2013 | popularity not rated yet | comments 0

Further potential insight into the complex neuropathology of Down's syndrome

(Medical Xpress)—Researchers at the University of Bristol have revealed new insight into the function of a key protein attributed to impaired learning and memory in Down's syndrome. The findings, published ...

Medical research created Apr 08, 2013 | popularity 4.5 / 5 (2) | comments 0 | with audio podcast

Rivals prepare for legal battle over abortion bans

Rival legal teams, well-financed and highly motivated, are preparing for court battles over the coming months on laws enacted in Arkansas and North Dakota that would impose the toughest bans on abortion in ...

Health created Mar 31, 2013 | popularity not rated yet | comments 3

Governor approves strictest abortion ban in US (Update)

(AP)—A Republican governor signed legislation Tuesday on the strictest abortion law in the country, banning the procedure if a fetal heartbeat can be detected—which can happen as early as six weeks into a pregnancy.

Health created Mar 26, 2013 | popularity not rated yet | comments 0

Down syndrome trial may hold key to learning

(Medical Xpress)—An ingredient used for decades in cough syrup, and to treat a variety of conditions, could hold the key to improving memory, language, and learning in people with Down syndrome.

Diseases, Conditions, Syndromes created Mar 26, 2013 | popularity 5 / 5 (2) | comments 0

Researchers unravel molecular roots of Down syndrome

Sanford-Burnham researchers discover that the extra chromosome inherited in Down syndrome impairs learning and memory because it leads to low levels of SNX27 protein in the brain.

Medical research created Mar 24, 2013 | popularity 4.4 / 5 (9) | comments 0 | with audio podcast

North Dakota lawmakers move to ban abortion

(AP)—North Dakota lawmakers moved Friday to outlaw abortion in the state by passing a bill defining life as starting at conception.

Health created Mar 22, 2013 | popularity not rated yet | comments 0

Blood protein able to detect higher risk of cardiovascular events

Higher levels of pregnancy-associated plasma protein A (PAPP-A) were associated with an increased risk of cardiovascular events in people with cardiac chest pain that developed as a result of heart disease/coronary artery ...

Cardiology created Mar 18, 2013 | popularity 4 / 5 (1) | comments 0

Screening for breathing problems that affect children with Down syndrome while they sleep

Researchers at the University of Southampton are planning to investigate tests for a breathing disorder that affects babies and children who have Down syndrome while they sleep. They aim to provide the missing evidence so ...

Sleep apnea created Mar 14, 2013 | popularity not rated yet | comments 0

Researcher finds exercise may be intervention for Down syndrome

(Medical Xpress)—Marcus Santellan's aunt says he's more talkative at home, using longer sentences, now that he's in an exercise program at Arizona State University. The young man with Down syndrome (DS) ...

Diseases, Conditions, Syndromes created Mar 06, 2013 | popularity 4.5 / 5 (2) | comments 0 | with audio podcast

Giving a voice to kids with Down syndrome

Researchers from the University of Alberta are helping children with Down syndrome who stutter find their voice and speak with ease.

Psychology & Psychiatry created Feb 25, 2013 | popularity not rated yet | comments 0


Down syndrome or Down's syndrome, (also known as trisomy 21), is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866. The condition was clinically described earlier in the 19th century by Jean Etienne Dominique Esquirol in 1838 and Edouard Seguin in 1844. Down syndrome was identified as a chromosome 21 trisomy by Dr. Jérôme Lejeune in 1959. Down syndrome in a fetus can be identified through chorionic villus sampling or amniocentesis during pregnancy, or in a baby at birth.

Down syndrome is a chromosomal condition characterized by the presence of an extra copy of genetic material on the 21st chromosome, either in whole (trisomy 21) or part (such as due to translocations). The effects and extent of the extra copy vary greatly among people, depending on genetic history, and pure chance. The incidence of Down syndrome is estimated at 1 per 733 births, although it is statistically more common with older parents due to increased mutagenic exposures upon some older parents' reproductive cells. Other factors may also play a role. Down syndrome occurs in all human populations, and analogous conditions have been found in other species such as chimpanzees and mice.

Often Down syndrome is associated with some impairment of cognitive ability and physical growth, and a particular set of facial characteristics. Individuals with Down syndrome usually have low intelligence, such as to constitute mild to moderate intellectual disability. Many children with Down syndrome who have received family support, enrichment therapies and tutoring manage to graduate from high school and college, and are able to do paid work. The average IQ of children with Down syndrome is around 50, compared to normal children with an IQ of 100. A small number have a severe to high degree of intellectual disability.

Individuals with Down syndrome may have some or all of the following physical characteristics: microgenia (an abnormally small chin), an unusually round face, macroglossia (protruding or oversized tongue), an almond shape to the eyes caused by an epicanthic fold of the eyelid, upslanting palpebral fissures (the separation between the upper and lower eyelids), shorter limbs, a single transverse palmar crease (a single instead of a double crease across one or both palms), poor muscle tone, and a larger than normal space between the big and second toes. Health concerns for individuals with Down syndrome include a higher risk for congenital heart defects, gastroesophageal reflux disease, recurrent ear infections that may lead to hearing loss, obstructive sleep apnea, thyroid dysfunctions, and obesity.

Early childhood intervention, screening for common problems, medical treatment where indicated, a conducive family environment, and vocational training can improve the overall development of children with Down syndrome. Education and proper care will improve quality of life significantly, despite genetic limitations.

This text uses material from Wikipedia and is available under the GNU Free Documentation License.

Latest Spotlight News

Slowing the aging process—only with antibiotics

Swiss scientists reveal the mechanism responsible for aging hidden deep within mitochondria—and dramatically slow it down in worms by administering antibiotics to the young.

Researchers complete largest genetic sequencing study of human disease

Researchers from Queen Mary, University of London have led the largest sequencing study of human disease to date, investigating the genetic basis of six autoimmune diseases.

Brain can be trained in compassion, study shows

Until now, little was scientifically known about the human potential to cultivate compassion—the emotional state of caring for people who are suffering in a way that motivates altruistic behavior.

Having both migraines, depression may mean smaller brain

(HealthDay)—Migraines and depression can each cause a great deal of suffering, but new research indicates the combination of the two may be linked to something else entirely—a smaller brain.

Novel approach for influenza vaccination shows promise in early animal testing

A new approach for immunizing against influenza elicited a more potent immune response and broader protection than the currently licensed seasonal influenza vaccines when tested in mice and ferrets. The vaccine ...

Enzyme-activating antibodies revealed as marker for most severe form of rheumatoid arthritis

In a series of lab experiments designed to unravel the workings of a key enzyme widely considered a possible trigger of rheumatoid arthritis, researchers at Johns Hopkins have found that in the most severe ...

Research offers promising new approach to treatment of lung cancer

Researchers have developed a new drug delivery system that allows inhalation of chemotherapeutic drugs to help treat lung cancer, and in laboratory and animal tests it appears to reduce the systemic damage ...

Overeating learned in infancy, study suggests

In the long run, encouraging a baby to finish the last ounce in their bottle might be doing more harm than good.

Research shows how immune system peacefully co-exists with 'good' bacteria

The human gut is loaded with commensal bacteria – "good" microbes that, among other functions, help the body digest food. The gastrointestinal tract contains literally trillions of such cells, and yet the ...

Researchers analyse hunting behaviour of fish larvae in virtual reality

Moving objects attract greater attention – a fact exploited by video screens in public spaces and animated advertising banners on the Internet. For most animal species, moving objects also play a major ...