Down syndrome (DS) or Down’s syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. Down syndrome is the most common chromosome abnormality in humans. The CDC estimates that about one of every 691 babies born in the United States each year is born with Down syndrome. It is typically associated with physical growth delays, a particular set of facial characteristics and a severe degree of intellectual disability. The average full-scale IQ of young adults with Down syndrome is around 50 (70 and below is defined as the cut-off for intellectual disability), whereas healthy young adult controls have an average IQ of 100. Many children with Down syndrome are educated in regular school classes while others require specialised educational facilities. Some children graduate from high school, and, in the US, there are increasing opportunities for participating in post-secondary education. Education and proper care has been shown to improve quality of life significantly. Many adults with Down syndrome are able to work at paid employment in the community, while others require a more sheltered work environment.
While Down syndrome is a chromosomal disorder, a baby is usually identified at birth through observation of the common physical characteristics. A doctor will request a blood test called a chromosomal karyotype in order to verify the presence of the disorder. Physical development in a baby with DS occurs at a slower rate due to floppy muscles. Speach is delayed and lifespan is short. Normal lifespan can be about 60 years. DS patients with mosaic trisomy 21 can have normal offspring.
Down syndrome is named after John Langdon Down, the British physician who described the syndrome in 1866. The condition was clinically described earlier 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 can be identified in a newborn by direct observation or in a fetus by prenatal screening. Pregnancies with this diagnosis are often terminated. We hope to be able to eliminate terminations after our research and treatments are verified.
For additional information follow the following three links:
- The Science of Precursor Stem Cell Therapy
- down-syndrome-poster PDF
- Down Syndrome - Fetal Precusor Cell Transplantation