Downs syndrome is a developmental condition that is also known as trisomy 21. This condition is characterized by additional genetic material that leads to delayed child development. This delay is both mental and physical. This condition is very prevalent in the United States and statistics have revealed that one in every eight hundred citizens is affected by the conditions. There are various variations of physical features as well as medical problems that are associated with Trisomy 21. Some children usually have various medical problems while other lead very healthy lives. However, the various health problems associated with trisomy 21 can be treated in due course. Various resources have been availed and it is easy to live with a child living with trisomy 21.
Downs syndrome or trisomy 21 is a genetic condition in which a child inherits genetic material from the parents. This inheritance is supposed to be 23 chromosomes from each parent. This, therefore, means that the child inherits 21 chromosomes from the mother and 21 more chromosomes from the father. In a case of downs syndrome, the child inherits an extra chromosome, leading to a total of 47 chromosomes (Grant, Goward and Ramcharan 44). The extra chromosome is responsible for the various physical as well as mental problems that are characterized by delayed development as well as medical problems.
Many scientists have found out that the chromosomal error cannot be prevented. However the cause of this error is still unknown. Women who give birth at the age of 35 and more are at a higher risk of having a child with this condition. This, therefore, means that women should be encouraged to give birth within ages of 20 to 30 in order to reduce chances of having children with trisomy 21. Other studies have revealed that downs syndrome exists in various forms. It may be due to mosaicism or due to translocation. Mosaic downs syndrome is a condition where some chromosomes are normal while others are not. Translocation downs syndrome occurs when part of the genetic material breaks during cell division. This is usually occurs on chromosome 14.
Characteristics of people with downs Syndrome
Normal human beings can be evaluated in circles of cognitive development as well as physical wellbeing. Some of the physical conditions include different eyes that are slanted upwards, protruding tongue, large space between the large toe and the second toe among other physical features. Abnormalities of health may affect various organs of the body and the normal functioning is inhibited. Individuals with downs syndrome have risk of congenital diseases, problems of hearing as well as respiratory problems. Childhood leukemia as well as epilepsy is among the major effects of downs syndrome (Optiz 38).
Screening and diagnosis
Various medical organizations such as the American Academy of Pediatrics have been in the forefront in screening individuals with downs syndrome. These screening is usually associated with genetic testing as well as genetic counseling. High abortion rates have been associated with this condition. Major corrective surgeries have been associated with individuals suffering from downs syndrome (Conor 20).
Downs syndrome is a medical condition that cannot be prevented but has various ways in which it can be managed. This, therefore, means that the condition is manageable and the diagnosis is available.
Conor, WO. “John Langdon Down: The Man and the Message.” Down Syndrome Research and Practice 6 (1999): 19-24. Print.
Grant, Gordon, et al. Learning Disability: A Life Cycle Approach to Valuing People. UK: McGraw-Hill International, 2010. Print.
Optiz, M. “Reflections on the pathogenesis of Down syndrome.” In American Journal of Medical Genetics Supplement 7 (1990): 38. Print.