Down syndrome
Down syndrome is one of the most common genetic disorders, occurring one in every 600 births (Davis, 2008). 3,500-5,000 children are born with Down syndrome every year in the United States alone (Pueschel, 2008). Down syndrome or mongolism was first identified by John Langdon Down in 1866 although the syndrome has been around for many centuries. In fact, according to many paintings dated back to the sixteenth century show pictures of children with Down syndrome like features (Carr, 1995). Down started the “cure” movement in the nineteenth century that promoted finding a cure for mongolism (Gibson, 1978). However he later found out that Down syndrome occurs during the early stages of fertilization and could not be cured with the technology existing at that time (Gibson, 1978). Also known as Trisomy 21 or, Down syndrome is the result of an extra 21st chromosome (Campbell &Reece, 2008). Instead of having two chromosomes on chromosome 21 they have three which means they will have 47 chromosomes instead of the normal 46 (Campbell & Reece, 2008).
Translocation can also happen which involves the attachment of the arms of chromosome 21 to chromosome 14, 21, or 22 also resulting in a child born with Downs although it is much rarer (Pueschel, 2008) These changes, or nondisjunction, change chromosome number and structure and are directly connected to significant human disorders. Even though most nondisjunction in the unborn child will result in death long before birth, although those with Down Syndrome often survive making it one of the most common genetic disorder (Pueschel, 2008). The Physical symptoms of Down syndrome include distinctive facial features, stunted growth, broad fingers, upward slanted eyes, decreased muscle tone, and small eyes and separated joints in the skull (Davis, 2008). With such a list of physical differences Down syndrome is the easiest neurodevelopmental disorders to recognize(Davis, 2008). There are also several mental disorders tied to Down syndrome as well including slow learning, impulsive behaviour and short attention span which result in impairments in memory and communication (Davis, 2008). Down syndrome isn’t the only syndrome with such features, these physical signs and symptoms are very closely related to another disorder called XXXXX syndrome, so chromosomal research is important in diagnosing the syndrome (Pueschel, 2001). It can be very difficult to tell during the first few months of a child’s life if Down syndrome is present.
Motor capability appears to be normal, but the response to apparent stimulation and sensory skills are inadequate (Davis, 2008). A Down syndrome infant does not move towards the mothers breast to nurse like a normal child would, they simply wait until the mother has placed her nipple into the child’s mouth (Pueschel,2001). The child will not grasp anything in their hands until around the sixth month and they are late in learning to walk, around 3 to 4 years (Pueschel,2001). The child is always indifferent about their surroundings and will wait in their crib without crying or demanding attention like a normal child would (Pueschel,2001). People living with Down syndrome usually will have shorter life spans than usual. Although most life-threatening problems will occur during the early weeks of the child’s life some will show up later in the person’s life (Pueschel, 2001).According to Campbell and Reece (2008) most Down syndrome people will not live past the age of 50 and they are more prone to developing many different diseases including leukemia and Alzheimer’s disease. Forty to fifty percent of Downsyndrome patients will develop congenital heart disease and are examined for traces of the disease after birth (Pueschel, 2001). Another defect is an abnormality with the gastrointestinal tract, thatoccurs in 5- 12% of infants with Downs and needs an immediate surgery right after birth (Pueschel, 2001). Although Down syndrome will normally occur in every 600 births, there is an unexplained relationship between a mother’s age and Down syndrome rate.
The older the mother the greater the chance is for their child to develop Downs syndrome (Campbell &Reece, 2008).Mothers under 30 account for 0.04% of Down syndrome children, for mothers over the age of 40, the chance increases to 0.92% (Campbell & Reece, 2008).Down Syndrome rates are also dependent on the rise of new technology (Davis, 2008). The survival rate for individuals with Down syndrome has been improved because of medical science (Davis, 2008). Although prenatal screening and other techniques have affected the birth prevalence because many parents do not want to have the responsibility in looking after a child with downs syndrome so they get their child terminated in the early stages of development (Pueshscel, 2001). Through the development of a Downs syndrome person their personality is quite different. Down syndrome individuals are described as stubborn, self-willed, easy going and mischievous (Pueschel,2001). They will have very influx feeling, usually going from one extreme to the other(Pueschel,2001).
The child always has a mindset of what they want to do and it is very hard to change their way of thinking in a certain situation(Pueschel,2001). They also have quite the sense of humour, laughter and remarks are very common(Pueschel,2001). They seem to be always content and happy towards people they know and towards animals, although they are not strongly affectionate or sympathetic (Pueschel,2001). They will often talk to themselves and review what happened in the past (Pueschel,2001). A Down syndrome person has to be cared for their whole life. Appropriate care-giving involves medical and surgical care (Pueschel, 2001).Pueschel (2001) argues that a care giver has to give much attention to the Down syndrome patient at all times and no treatment given to a normal child should be withheld from a Down syndrome child. There are many different programs and support networks that strive to looking after and creating a better atmosphere for people with intellectual disabilities such as Down syndrome.
The quality of life for Down Syndrome individuals has improved a great deal over the last few decades, with growing understanding of the mind of the Down syndrome patient and better care. (Gibson, 1978) Studies have improved the life and health by correcting common defects and curing many conflicts seen regularly in a Down syndrome individual.( Gibson, 1978) Even though there is no cure for Down syndrome patients their future looks optimistic. There are always studies being done resultingin better treatment and care facilities. There are many different medications out there that that will improve their life, such as increased mental capacity and medicines that relieve all forms of stress from the body (Pueschel, 2001). Continued research with appropriate care and education can result in a better understanding of the syndrome and how to treat it effectively.