Down syndrome is a hereditary condition with moderate-to-severe mental deficiency. Children with Down syndrome are born with an extra chromosome 21. Other names for this condition are trisomy 21 and mongolism. Dr. John Down, a British health care provider, first identified this condition in 1866. Down syndrome occurs in about 1 of 800 to 1000 live births.
The syndrome cannot be cured, but people can live long lives, into their 60s.
Chromosomes hold all genetic information. Normally, each person has 46 chromosomes, 23 from each parent. People with Down syndrome have 47 chromosomes. The mother’s age is important, because the older the mother, the greater the chance of having a child with this syndrome. At age 25 years, the risk is 1 in 1400. At age 40, it’s 1 in 100. Down syndrome cannot be prevented. Future parents may want genetic counseling before having a child.
Children differ mentally and physically from other children their age. They tend to be calm and rarely cry. Other features include a small head, mental retardation, delays in development, slanting eyes, short height, and small, low-set ears. The tongue seems too big for the mouth, and muscles seem floppy. Hands are short and broad with one crease in the palm.
Babies develop language and learning skills (crawling, walking) more slowly than other babies.
The diagnosis can be made after birth, from the physical look of the baby. A blood test to check chromosomes will confirm the diagnosis. Two tests done during pregnancy can tell whether the fetus has the syndrome. They are chorionic villus biopsy and amniocentesis. The health care provider may also do tests for heart problems. A new genetic test may detect Down syndrome with a blood sample from the mom-to-be.
Many medical and developmental conditions can be helped. For example, in some cases surgery may be used for heart and digestive problems. Physical therapy and special education can help children control their muscles and develop social skills. Many children can reach a very high level of functioning and be independent.
Contact the following source: