Down’s syndrome is a genetic condition that involves an extra chromosome. Chromosomes are tiny strings carrying genetic information or genes in human beings (Naess, 2015). The genes have the responsibility of how the formation of the body takes place, how it functions, how people look in relation to eye color and hair color and determine the personality of an individual. The human body is composed of cells which have the responsibility of maintenance and growth of the human body. Inside the nucleus of a cell, there exist genes which are controlling as well as influencing the traits that people inherit (Cosmas, 2012). Children acquire the genes from their parents. Many people possess two copies of every gene whereby the father of a child contributes one gene and the mother contributes the other gene.
Human genes are put together inside long strands which are known as chromosomes. The strands are responsible for carrying genetic information. In most cases, there are a total of forty six (46) chromosomes of 23 pairs in each cell (Korbel, 2009). Every pair of the chromosomes contains unique genes. Down’s syndrome happens in infants who are born with an extra chromosome on the 21st pairing. Hence, the infants possess 47 chromosomes in total resulting in the disruption to the normal growth of the developing infant (Maris, 2016). It is considered as a genetic accident that takes place during the time of conception and it is not the fault of anyone. It does not take place because an individual has done something during pregnancy.
There are three common types of Down’s syndrome. First is regular trisomy or standard trisomy whereby all the cells possess extra chromosome 21. The majority of individuals with Down’s syndrome equivalent to 94 percent possess this type. Second is translocation whereby an extra chromosome 21 material gets attached to another chromosome. Four percent of individuals with Down’s syndrome possess this type (Korbel, 2009). In addition, a third of individuals with this type acquired it through inheritance. The third type is known as mosaic whereby some cells in the body contain extra chromosome 21. Only 2 percent of individuals with Down’s syndrome have this type. In addition, it is considered to be a rare type. The type of genetic variation possessed by individuals does not appear to change the impacts of Down’s syndrome significantly. However, people with mosaic type of Down’s syndrome may experience decreased delay with some characteristics of their development.
According to research, one in every thousand infants will be born with Down’s syndrome. In addition, every year, an estimated 6000 babies are born with Down’s syndrome in the United States. In addition, it is approximated that nearly 85 percent of new born babies having Down’s syndrome are able to survive one year. 50 percent of them will be able to live more than 50 years longer. The National Down Syndrome Society estimates that there are over 350,000 individuals who are live with Down syndrome within the United States. Individuals with Down’s syndrome are born across all the races, religions, classes (Korbel, 2009). This implies that Down’s syndrome affects all backgrounds regardless of religion, race or class. However, there is a definite connection with advanced maternal age and Down’s syndrome due to reasons that are yet to be known. However, many infants born having Down’s syndrome are those born by women under 35 years since younger women possess high rates of fertility.
According to Head (2016), couples who have previously given birth to an infant with Down’s syndrome mainly due to translocation type of Down’s syndrome have a highly likely to have future pregnancies with Down’s syndrome. This is due to one of the parents being a balanced carrier of translocation. Maternal age as a risk factor for Down’s syndrome can be explained when the eggs of a woman age as a result increasing the risk of the chromosomes not to divide correctly.
Infants born with Down’s syndrome are more likely to develop slowly than other normal babies. They tend to learn how to walk and talk much layer than normally developing babies. Some may develop stomach problems affecting their elimination as well as digestion. Infections may affect breathing and lungs as well as ears or eyes which may last for a longer period (O’Doherty, 2005). Furthermore, individuals with Down syndrome are at higher risk of specific health problems such as congenital heart defects, hearing problems, increased susceptibility to infections and respiratory problems. Some may also develop obstructed digestive tracts, and sleep apnea. According to Mateos (2015), childhood leukemia is common in children with Down’s syndrome while adults are at a high risk for Alzheimer’s disease, sleep apnea and thyroid conditions.
Individuals with Down’s syndrome have unique degrees of cognitive disabilities affecting their development (Skotko, 2015). Other complications or problems that may exist include heart defects which is prevalent among more than half of babies born with Down’s syndrome and intellectual disability which results in a lot of troubles for the victims to learn normally. Several children having Down’s syndrome have the ability to attend public schools regularly. Those with highly demanding physical needs or severe learning needs are referred to special classes (Nadel, 2003). The personality of an infant having Down’s syndrome is commonly very playful and not inclined towards academics. Hence teachers and parents are required to work closely to establish a conducive learning environment that enables the children to have the opportunity to take part in dance classes, sporting activities, and music lessons.
- Cosmas, C. (2012). Prenatal Diagnosis of Chromosome Abnormalities: A 13-Year Institution Experience. Retrieved February 11, 2016 http://www.ncbi.nlm.nih.gov/pubmed/26859399
- Head, E. (2016). Aging in Down Syndrome and the Development of Alzheimer’s Disease Neuropathology. Retrieved February 11, 2016 from http://www.ncbi.nlm.nih.gov/pubmed/26651341
- Korbel, J. et al. (2009). The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies. Retrieved February 11, 2016 from http://www.pnas.org/content/106/29/12031.short
- Maris, M. (2016). Sleep problems and obstructive sleep apnea in children with down syndrome, an overwiew. Retrieved February 11, 2016 from http://www.ncbi.nlm.nih.gov/pubmed/26857307
- Mateos, M. (2015). Down syndrome and leukemia: insights into leukemogenesis and translational targets. Retrieved February 11, 2016 from http://www.ncbi.nlm.nih.gov/pubmed/26835364
- Nadel, L. (2003). Down’s syndrome: a genetic disorder in biobehavioral perspective. Genes, Brain and Behavior, 2: 156–166. doi: 10.1034/j.1601-183X.2003.00026.x
- Naess, K. (2015). Development of Phonological Awareness in Down Syndrome: A Meta-Analysis and Empirical Study. Retrieved February 11, 2016 from http://www.ncbi.nlm.nih.gov/pubmed/26689762
- Skotko, B. (2015). Family perspectives about Down syndrome. Retrieved February 11, 2016 from http://www.ncbi.nlm.nih.gov/pubmed/26692378
