Down syndrome (DS or DNS), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is typically associated with physical growth delays, characteristic facial features, and mild to moderateintellectual disability. The average IQ of a young adult with Down syndrome is 50, equivalent to the mental age of an 8- or 9-year-old child, but this can vary widely.
The parents of the affected individual are typically genetically normal.The extra chromosome occurs by random chance.There is no known behavior or environmental factor that changes the risk. Down syndrome can be identified during pregnancy byprenatal screening followed by diagnostic testing, or after birth by direct observation and genetic testing. Since the introduction of screening, pregnancies with the diagnosis are often terminated. Regular screening for health problems common in Down syndrome is recommended throughout the person’s life.
There is no cure for Down syndrome Education and proper care have been shown to improve quality of life. Some children with Down syndrome are educated in typical school classes, while others require more specialized education. Some individuals with Down syndrome graduate from high school and a few attend post-secondary education. In adulthood, about 20% in the United States do paid work in some capacity with many requiring a sheltered work environment. Support in financial and legal matters is often needed. Life expectancy is around 50 to 60 years in the developed world with proper health care.
Down syndrome is one of the most common chromosome abnormalities in humans.It occurs in about one per 1000 babies born each year. In 2013, Down syndrome was present in 8.5 million individuals and resulted in 36,000 deaths down from 43,000 deaths in 1990. It is named after John Langdon Down, the British doctor who fully described the syndrome in 1866. Some aspects of the condition were described earlier by Jean-Étienne Dominique Esquirol in 1838 and Édouard Séguin in 1844. The genetic cause of Down syndrome—an extra copy of chromosome 21—was identified by French researchers in 1959.
بنیاد پیشگیری از معلولیت های مادرزادی و ژنتیک خراسان رضوی به همت خیرین و مساعدت سازمان بهزیستی در تیر ماه سال 1388، با هدف کاهش معلولیت در جامعه در شهر مقدس مشهد تاسیس گردید. خیرین بنیاد در عملی کم سابقه درسطح کشور پس از پژوهشها و تحقیقات به عمل آمده جهت سرمایه گذاری در امور خیر مانـــدگار به این نـــتیجه رسیدند کـه جــهت پیــــشگیری از مــــعلولیتهای مــــادرزادی بنیاد یاد شده را تاسیس نمایند.
