Down's Syndrome

Making sure blueberry juice worth the squeeze

Blueberries can help with mental acuity, Metabolic Syndrome, gut health and muscle repair. But to make the best quality juice, a processor needs to ensure key chemicals in the whole fruit are retained. A Massey University ...

Jul 23, 2015
popularity24 comments 0

Discovered a cause of mental retardation and autism

The term intellectual disability covers a large number of clinical entities, some with known cause and others of uncertain origin. For example Down syndrome is due to an extra copy of chromosome 21 and Rett syndrome is in ...

Jul 20, 2015
popularity29 comments 0

"Saving Eliza" campaign helps another child

Valerie Byers had long suspected that her son Will's diagnosis of autism was wrong. So when she saw a clip on the homepage of the Today Show about a little girl named Eliza, in late February, she knew instantly that 5-year-old ...

Jul 17, 2015
popularity27 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 licensed under CC BY-SA

Latest Spotlight News

How to become a T follicular helper cell

Follicular helper Tcells (TFH cells), a rare type of immune cell that is essential for inducing a strong and lasting antibody response to viruses and other microbes, have garnered intense interest in recent years but the ...

HVTN 505 vaccine induced antibodies nonspecific for HIV

A study by researchers at the National Institute of Allergy and Infectious Diseases and Duke University helps explain why the candidate vaccine used in the HVTN 505 clinical trial was not protective against HIV infection ...

A cheaper, high-performance prosthetic knee

In the last two decades, prosthetic limb technology has grown by leaps and bounds. Today, the most advanced prostheses incorporate microprocessors that work with onboard gyroscopes, accelerometers, and hydraulics to enable ...

Take a trip through the brain (w/ Video)

A new imaging tool developed by Boston scientists could do for the brain what the telescope did for space exploration. In the first demonstration of how the technology works, published July 30 in the journal Cell, the researchers ...