Down Syndrome

Down syndrome has always been defined as a genetic condition. It is also known as Trisomy 21, and it is the most common genetic cause of intellectual disability. Nelson and Gibbs (2004) said “Trisomy results from sporadic nondisjunction of chromosome 21 leading to three copies of the smallest human chromosome”. Trisomy 21 is the cause of about ninety-five percent of observed Down syndrome. Most of the nondisjunction comes from the maternal gamete while a very small amount of the nondisjunction comes from the paternal gamete. Along with Trisomy 21, there is also translocation. Cross, Gensburg, and Olsen (2003) said that “Approximately 5% of cases are due to translocation resulting in the presence of three copies of the q arm of chromosome 21”.

The donated genetic material of the father just as easily causes translocation, which is why they also refer to translocation as familial Down syndrome. Translocation can also be deadly and lead to immediate death of the fetus. Mosaicism is also common in those who have Down syndrome. Mosaicism is where some of the cells in the body are normal and some of them have Trisomy 21. Mosaicism is the cause of one to two percent of observed Down syndrome. The probability of a woman giving birth to a child with Down syndrome increases, as they get older. There tends to be a steeper rate of increase as the mother reaches the age of 34 (Cross, Gensburg, and Olsen, 2003). Trisomy 21, translocation, mosaicism, and mothers who are older in age all contribute to the cause of Down syndrome.
The physical characteristics of someone with Down syndrome are very easily identified from someone who does not have Down syndrome. Appl (1998) claimed that, “Common physical characteristics of children with DS include the distinctive appearance of their facial features, head shape, feet, and hands”. Those with Down syndrome tend to have flatter faces, smaller chins, slanted eyes, smaller mouths, and larger tongues, which are usually visible at all times because of the smaller mouth. Once full grown, those who have Down syndrome are also shorter than the average person. None of these physical characteristics interfere with cognitive development or their ability to be educated. There is one physical characteristic that could interfere with development and learning, which is referred to as hypotonia or low muscle tone. Hypotonia causes children to have reduced muscle strength and weaker joints. This flexibility in the joints can also lead to less control of your limbs. “Consequently, many children with DS experience delays in the development of major motor skills” (Appl, 1998). Certain motor skills, such as feeding yourself can be affected by hypotonia. Hypotonia can also affect language development in those who have Down syndrome as well. “Fortunately, hypotonia diminishes with age and early intervention can minimize its negative effects” (Appl, 1998). The physical characteristics of Down syndrome are very easy to live with and have no effect on the intellectual development of a child with Down syndrome.
In addition to having different physical characteristics than those who do not have Down syndrome, they also have more medical problems such as vision problems, hearing loss, congenital heart disease, gastrointestinal problems, and problems with the endocrine system.

“In addition to the above physical differences, children with DS have a higher incidence of medical problems than children who are developing typically” (Appl, 1998). More than half of the people that have Down syndrome suffer from hearing and vision problems. Strabismus, cataracts, keratoconus, and glaucoma are all common vision issues for those who have Down syndrome. Hearing problems are also an issue for most people who have Down syndrome. Ear infections are very common, which can cause hearing loss and this could affect language and social development. Congenital heart disease also causes problems for those who have Down syndrome. Obesity, Fitness &Wellness Week (2004) said that congenital heart disease is a huge issue for those with Down syndrome. Death early on in life for Down syndrome patients is usually caused by congenital heart disease. Vyas (1994) wrote, “Early mortality is high, mainly due to congenital heart defects”. Atrioventricular septal defects and ventricular septal defects are also common for those who have heart disease. Along with congenital heart disease, and vision and hearing problems, there are also issues with the gastrointestinal system. Constipation is the main issue and occurs in half of the people who have Down syndrome. Constipation can cause severe behavioral changes. One cause of constipation could be due to Hirschsprung’s disease. Muscles not moving properly in the bowels, which causes blockages in the large intestine, cause Hirschsprung’s disease. These blockages can lead to constipation. Hirschsprung’s disease is a congenital defect as well, which means it has been an issue since birth. Only 2-15% of those who have Down syndrome suffer from Hirschsprung’s disease

as well. Those with Down syndrome have a higher risk of dying early than those that do not have Down syndrome. The prognosis for those who have Down syndrome varies depending on the health issues they have. In 1912 the life expectancy was 12 years of age, then in the 1980’s it was 25 years of age, and recently they have found that those with Down syndrome live to be 50 or 60 years of age. Although the medical issues that people with Down syndrome suffer from can seem severe, they are usually easy to live with when it comes to taking care of a child with these medical issues.
Along with other medical issues, fertility is also a common issue for those who have Down syndrome. Usually, males who have Down syndrome do not go on to have any children. Women who have Down syndrome are much less fertile than women who do not have Down syndrome. Without genetic testing or assistive technology, people with Down syndrome who go on to children have a 50% chance of their children having Down syndrome as well. Sexual education for those who have Down syndrome and other intellectual disabilities is a common issue in modern time. Many people assume that just because these individuals have a lower mental age, they need to be treated like someone that is that age. Although they may perform academically at a lower age, they still experience the same body development that a person without Down syndrome would experience. There is a lot of controversy surrounding this topic. Often, women with Down syndrome or other intellectual disabilities are taken advantage of. Women with Down syndrome or other intellectual disabilities may also have the desire to pursue what they are feeling, but they are unaware of the consequences that could result from their actions. Whether or not a student with Down syndrome or an intellectual disability is included in the general education classroom, they still need to be taught sexual education to reduce their vulnerability outside of school.
Generally speaking, early intervention services are incredibly helpful for the development of young children who have Down syndrome. These intervention services should start soon after the child is diagnosed with Down syndrome. Speech therapy is very helpful for children with Down syndrome. Because of their larger tongue and smaller mouth, it is very hard for them to learn how to speak. The inability to speak could raise the risk of behavioral issues. Assistive technology is also very useful for language development for children with Down syndrome. Sign language can also be taught to children with Down syndrome who have a harder time communicating with speech. Physical therapy and occupational therapy are also services provided by early intervention that is very important for the development of a child with Down syndrome. Children with Down syndrome suffer from low muscle tone, which was discussed previously. Physical and occupational therapy can help reduce the effects of hypotonia and make movement easier for the child. All of these services and therapies working together could provide a very good head start for a child with Down syndrome.
Consequently, children with Down syndrome have been said to be “noneducable”. In 1972, the court case PARC v. Pennsylvania ruled it unconstitutional to keep children with disabilities out of public schools. Children with intellectual disabilities often received their educations segregated from the general education students before this ruling was made. The main focus was to have their care and education in isolated environments. This is because they struggled to master concepts such as reading, writing, and math. The civil rights movement brought the opportunity for students with Down syndrome and other intellectual disabilities to gain independence and have control over their own futures. New laws today require that students with intellectual disabilities such as Down syndrome, be incorporated into the general education classroom. In public schools, they are required to teach these students to have less dependence on others, and learn how to function in their environment. Instead of having emphasis on academic subjects, the curriculum for special education students includes an emphasis on learning basic life skills, such as learning how to take care of themselves and how to function outside of a school setting. Wolpert (2001) said that, “Individual and small-group instruction have been found to improve the learning capacity of children with developmental disabilities”. Generally, children with intellectual disabilities lack motivation to learn, and could get distracted easily. If teachers have the resources to be able to focus on students individually, this would be the most beneficial learning method for these students with intellectual disabilities. The use of concrete examples while learning is also very beneficial for a student with Down syndrome. Depending on the student’s functioning, a student with Down syndrome could be included in the general education classroom for some periods of the day, and then go back to the special education classroom for further instruction in the subjects listed previously. Collaboration between general education teachers and special education teachers is essential for the success of a student who is participating in both classrooms. With the correct curriculum and instruction, prepared teachers, and cooperation from everyone involved in the education process, students with Down syndrome should not have any problems receiving an education.
In conclusion, with the proper healthcare and educators, Down syndrome can be managed. There are many obstacles to work through, but in the end, children with Down syndrome can grow up to live happy lives. Some people with Down syndrome can also manage jobs, have a relationship, and take care of themselves. There have also been people who have Down syndrome that have taken part in movies and television shows. The most important thing is that there are no limits imposed on people with Down syndrome. People will be very surprised to see that these individuals can do anything they put their minds to, and in the end, they are just like everybody else.