Down Syndrome: Types, Symptoms and Treatment

Down syndrome is a chromosomal disorder caused by chromosome number 21. In a human, there is a cell and inside that cell is a nucleus which is where your genetic material is stored. The nucleus of a normal cell will contain 23 pairs of chromosomes, which both biological parent evenly distribute to. Down syndrome will occur when a person has an extra copy of chromosome number 21. The additional material will affect the course of development in the human greatly. A person with Down syndrome will generally be noticeable simply by their physical appearance. Down syndrome will cause one to have more slanted eyes than regular, along with flat facial features, and low muscle tone (more noticeable in infants). There are many different types of Down syndrome, but most all result in a form of mental retardation. Metabolic components play into the role of Down syndrome by majorly increasing the risk of heart disease. Down syndrome will effect almost every part of the body in some way ("What Is Down Syndrome? - National Down Syndrome Society", 2016). Down syndrome is a very important disease topic for me because my cousin was born with Down syndrome and told she would never be able to walk or talk, nor live past the age of five. My cousin is now thirty-five and is happy and full of life as anyone! Down syndrome is one of the most common of birth defects today, having 6,000 babies born with this disease each year (Trueta, 2009).

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Brief history of Down syndrome

Prior to 1886, patients with Down syndrome were often only alluded to in works of art, literature or science. No one could give an accurate description of the condition until the works of the English physician Langdon Down were published in 1886, giving an accurate description of a person with Down syndrome (Whitten, 2011). Though other scholars had earlier had previously examined the characteristics of the syndrome, Langdon Down was regarded as the father of the syndrome as he was the one who described the condition as a distinct and separate entity. Over the years, advancements in medical technology have enabled researchers further investigate the characteristics of patients suffering from Down syndrome. A French physician in the year 1959 found out that the problem was associated with an anomaly in the chromosomes. The physician found out that people suffering from Down syndrome had a total of 48 chromosomes in every cell instead of the normal 46 (Wright, 2011).

Types of Down syndrome

Trisomy 21 is the most common form of Down syndrome affecting approximately 94 percent of the entire population with disease. In this form, all the cells in the body have an extra copy of chromosome 21. Translocation type of Down syndrome affects about 4 percent of people with the disease. This deformity occurs when an extra chromosome 21 finds itself attached to another chromosome such that the 46 chromosomes in each cell of the human body have an extra material attached to it. This implies that the amount of genetic material present in the cells is similar to that witnessed in a trisomy. The Mosaicism form of Down syndrome is the least that affects the syndrome population, accounting for approximately 2 percent of the population. In these circumstances, it is only some of the cells that have an extra copy of chromosome 21, which implies that those affected by this form of Down syndrome will experience less delay with some of their development aspects (Crosta M.A, 2016).

Down syndrome symptoms

Parents or families who have someone suffering from Down syndrome should understand that each child is different and will not exhibit similar characteristics with other children suffering from the disease. There are however common patterns of the disease during the growth process of the child. There is also hope for children suffering from the disease as it has been shown and experienced that they can grow to be successful people leading happy and productive lives (Benejam, 2009). A vast majority of the challenges faced by people suffering from Down syndrome are related to mental disability and health problems which afflict them at different phases of their lives. For babies, their growth and developmental milestones might be slackened to some degree as compared to other children in the same stage. They may have slow progress in their physical growth, cognitive abilities, emotional as well as social development and sensory capabilities. If a baby does not attain these milestones on time or attains them but sooner loses track of this new ability, it is advisable that parents or guardians of such a baby should seek medical counsel. For children, the problems posed by Down syndrome include developmental disabilities such as difficulties in crawling, sitting up or talking.

Children faced with such health problems have a high likelihood of developing defiance tendencies where they become disobedient or hostile towards authority figures in their lives. This is usually attributed to their inability to communicate effectively, and thus their expectations are not well understood by the people to whom they address. Teenagers with Down syndrome experience puberty at the same time and age just like the other teenagers. Their condition may, however, make them vulnerable to social difficulties such as bullying, abuse and at times even physical injuries. At times their ability to handle strong emotion s and feelings might be impaired. Such struggles might drive them to develop mental health problems such as depression. In most cases, adult males with Down syndrome are sterile and are not able to sire any children. On the other hand, adult women with the disease can have children just like other women. They will, however, experience early menopause (Benejam, 2009).

Down syndrome risk factors

Down syndrome is not a respecter of persons and afflicts all people from all races and different economic backgrounds. However, older women have an increased likelihood of giving birth to babies who have the syndrome. A woman aged 35 years old has 1 in 350 chances of siring a baby with Down syndrome. By age 40, this likelihood increases to 1 in 100 and increases even more with advanced age. At age 45, a woman has 1 in 30 chances of conceiving a baby with the condition (Chasen & Wasden, 2012). As current trends show a preference for women having babies later in life, incidences of Down syndrome are expected to rise. Physicians should, therefore, stress the importance of genetic counseling for parents so as to be informed before making the choice to delay having their babies. The risk factors associated with Down syndrome will vary depending on the type of syndrome. For trisomy type of Down syndrome, women have a high likelihood of conceiving another baby with the condition if in their previous pregnancy their fetus tested positive with the condition. They have 1 in 100 chance of having their second baby testing positive for the syndrome. All the three types of Down syndrome are genetic conditions, but a negligent (1 %) proportion of all Down syndrome cases are hereditary. The hereditary factor is only evident in the case of translocation form of Down syndrome (Chasen & Wasden, 2012).

Down syndrome diagnosis

There are two kinds of Down syndrome tests that are conducted before the birth of a baby: screening and diagnostic tests. Prenatal screening gives a rough estimate of the probability of the fetus having Down syndrome. They do not, however, tell for sure whether the baby has Down syndrome; they just give probabilities. Diagnostic tests, on the other hand, give definite results, and you can tell with certainty whether your baby has the condition or not. An array of prenatal tests is now available for expectant mothers to ascertain the state of their babies with regards to Down syndrome. The majority of these tests involve blood tests and ultrasound procedures. Serum tests are aimed at establishing the amount of various substances present in the blood of the expectant mother (Pueschel, 1990). The amount of these substances coupled with the age of the mother will be used as a yardstick to estimate her likelihood of having a baby with Down syndrome. These serum tests are performed in conjunction with other series of ultrasound tests to check for specific indicators of Down syndrome. With advancements in medical technology, it is now possible to detect chromosome materials of the fetus circulating in the mothers bloodstream. These prenatal tests do not, however, provide certain Down syndrome results but have a high degree of accuracy. A combination of prenatal tests together with diagnostic tests is now being offered to women of all ages. Diagnostic procedures for prenatal Down syndrome include amniocentesis and chorionic villus sampling. These procedures, however, are risky as they can cause miscarriages. They are almost 100 percent accurate in detecting Down syndrome.

Down syndrome can be identified at birth by the examination of certain physical traits such as slanted eyes, low muscle tone, and a flat face. A baby who has these physical characteristics should not be used as conclusive evidence that they have Down syndrome. Further chromosomal analysis called karyotype should be done to confirm with accuracy whether a baby with such characteristics actually had Down syndrome (Pueschel, 1990). Doctors do this by drawing the babys blood sample and examining its cells.

Treatment of Down syndrome

No single prescribed standard treatment is available for Down syndrome. Treatments will vary depending on the patients intellectual as well as physical needs, strengths, and limitations. Parents and families that have children suffering from Down syndrome have a crucial role to play in helping these children realize their full potential. These children will encounter numerous challenges along the way, and it is the role of the entire family to cushion them through the journey. Various home treatment measures can be undertaken in a bid to help children suffering from Down syndrome. Your child will reach developmental milestones later in life than other children. It is however important to celebrate their achievements and encourage them along the way. You can enroll the help of a therapist to help in the design of a training program to help the child strengthen their muscles and develop their physical skills. It is also important to help the child learn to be independent in performing such tasks as eating and dressing. They should at first be taught how to perform these tasks but gradually reduce the help. Parents should encourage their children not to perceive themselves as different from the rest. They should for instance enroll them in schools with other children and understand that the child will have challenges and difficulties in catching up with the rest of the pack. Some Down syndrome patients take amino acid supplements. Studies however show that if this intake is not controlled it can lead to adverse effects. Studies that have been conducted to examine the effectiveness of Down syndrome drugs have not revealed much due to lack of participants. The studies have not yielded impressive results either. These studies have shown that these drugs are safe but not effective. Assistive devices can also be availed to patients suffering from Down syndrome as intervention measures. Such devices include amplification equipment to help ease their hearing problems and computers with large keyboards to help them type easily and faster ("What are common treatments for Down syndrome?", 2016).

Impact of Down syndrome on the society

There is impressive integration progress in the society of people suffering from Down syndrome. These individuals are being enrolled in schools, work organizations and sporting activities. Though they have varying degrees of cognitive and physical disabilities, they...