McArthur 1

Nick McArthur

Professor Kretzer

English 1201

9-December-2021

Research Essay – Final Draft

Individuals who have down syndrome live a significantly different lifestyle from typical

individuals. After conducting thorough research, it is apparent that down syndrome individuals

live life at a much slower pace than individuals without disabilities. Down syndrome individuals

struggle to keep up with day-to-day activities, so their life is intentionally slowed down by

communities around them that support them. While some may say that down syndrome

individuals live just the same kind of life as a typical individual, this is proven wrong through

research and statistics.

What is down syndrome? According to Terry Hassold, “An additional chromosome 21,

or trisomy 21, is the most commonly identified chromosome abnormality in liveborns…”

(Hassold, 67). Down syndrome is a disability that causes defects to an individual’s development,

making life harder on them. As quoted, it Is not something that is very uncommon, as most

people know about down syndrome. It is said, from Hassold, that down syndrome is found in

roughly every 1/600 to 1/800 newborn babies. This is not necessarily common, but it most

certainly is not uncommon. Down syndrome is said to be, “higher amongst fetuses that are lost

either as stillbirths or spontaneous abortions. (Hassold, 68). Down syndrome not only has mental

affects on the individual, but it can also be physically noticed. It is not always obvious, but traits

of someone who pertains down syndrome can be visibly noticeable. What makes an individual
 McArthur 2

who has down syndrome so special is the additional chromosome. This chromosome 21 changes

the genetics of the individual and creates the disability.

When looking at the slower pace of the individual who has down syndrome, this is

something that carries over to schooling. Individuals who have down syndrome do not usually go

to the same classes that individuals without disabilities go to. Down Syndrome students report to

classes that are slowed down for them to comprehend everything that is going on. An individual

with down syndrome will typically be in a class such as study skills, where the individual can be

with another group of students who all need accommodations for class. This is something that

helps them tremendously in regard to schooling. It is the perfect pace for them, allowing them to

learn while not being rushed to understand. Most typical individuals are found outside of study

skills, which is a factor as to why people who have down syndrome live quite a different life

from someone who does not have a disability.

Typically, someone who has down syndrome will not be living on their own.

Communities are out there for individuals who have down syndrome to live in. These

community homes are housed with other people who have disabilities, where they can learn to

live together and also have a care provider come and check in on them. This is something that I

have seen personally as someone who has worked with people who have disabilities. This is far

from a normal lifestyle, as the typical down syndrome individual will require help with most

independent skills. This is yet another indication that people who have down syndrome will not

be experiencing the typical lifestyle that people without disabilities experience.

Finding a job for someone with disabilities is a different story from one that you and I

will experience. A down syndrome person will rarely ever continue their education in college, as

they struggle to comprehend information that is brought their way. So, working a job will be a
 McArthur 3

minimalistic job, and some individuals will even be put with a job coach so they can learn how

to perform their job sufficiently.

Adults with Down syndrome, like any other group of people, have a variety of

requirements, abilities, and ambitions. Some will learn to drive, form relationships, and live on

their own for the most part. Others will require more daily assistance, although they may still be

able to work part-time and engage in significant social activities.

They can have full, fulfilling lives and feel a part of their communities with the correct

help. There are more work and lifestyle possibilities now than there have ever been. As persons

with Down syndrome age older, doctors are learning more about the health challenges they

confront. So, knowing what possibilities are available and what you'll want to keep an eye on is

beneficial.

As teenagers with Down syndrome graduate from high school and begin their adult lives,

they encounter the same challenges as other young people. They must determine where they will

live, what they will do for a living, and how they will form new social circles outside of school.

It's thrilling, but it can also be stressful for any young adult, and it's considerably more difficult

for someone with Down syndrome. As a result, it's critical to begin planning as soon as feasible.

Transition planning is included in the Individualized Education Program (IEP) for

children with Down syndrome in public schools. The purpose is to envision the future and

consider the skills and services that teenagers will require as they grow into adults. Working

collaboratively with teachers, doctors, and therapists to develop a solid strategy can help to

reduce the anxiety of venturing out into the world.

 McArthur 4

As the transitions approach, individuals with Down syndrome may become moody or

perform poorly in school. Remember that school is more than simply a place to learn; it is also a

regular social structure with built-in supports such as teachers and an IEP. It can be difficult to

adjust to the idea of moving away from it. If you observe any of these changes, talk to your

doctor or your school about getting some extra help.

General practitioners will be called upon to provide medical care to people who have

Down's syndrome through their lives and in some cases unfamiliarity with the syndrome may

compromise the quality of that care. This article, published in Australia during Down's

Syndrome Week in 1993, aims to assist General Practitioners in the provision of quality medical

care to people with Down's syndrome and their families, from diagnosis to old age.

There is evidence in ancient art that people with trisomy 21 have existed for thousands of

years, but it was not until 1866 that Dr John Langdon Down first remarked on the facial

similarities of a group of his patients with intellectual disabilities. Unfortunately, he used racial

descriptors such as "mongol" to describe their appearance which led to a century of inaccurate

and misleading terminology. People who have Down's syndrome and their advocates are

understandably sensitive about the words used to describe this chromosomal condition. With the

identification of the chromosomal basis of Down's syndrome in 1959, a gradual process of

acceptance of trisomy 21 as being a variation of normal has done a lot to remove some of the

disability and end uninformed debates over the "humanity" of people with Down's syndrome.

Apart from using the term "mongol", another way to get into a heated discussion is to

refer to a person as "suffering from Down's syndrome". This is a nonsensical statement as the

syndrome in itself is not painful or distressing. The phrase "a person with Down's syndrome" is

accurate, non-pejorative and reminds us that the patient is, indeed, a person first.
 McArthur 5

Down's syndrome is the commonest identifiable cause of intellectual disability,

accounting for almost one third of cases. It occurs equally in all races with an overall incidence

of approximately 1 in 800 births. This is much lower than the actual conception rate, due to a

high incidence of spontaneous and surgical abortion. The increase in incidence with advancing

maternal age is well-known but what is not commonly realized is that most children with Down's

syndrome are born to mothers who are less than 30. This is due to a greater number of

pregnancies in this age group compared to the older group.

95% of cases of Down's syndrome are caused by trisomy 21, with unbalanced translocations of

chromosome 21 and mosaicism accounting for the remainder. The extra chromosome is maternal

in origin in at least 90% of cases.

The medical profession has been criticized for allowing technical advances to outstrip our

ability to deal with the ethical issues which they raise. It is heartening, therefore, to see

paternalism being replaced by a conscious effort on the part of doctors to act as expert informers

who allow parents to make their own decisions based on accurate facts. While the technical

procedures require a high level of skill to be performed well, an even higher level of skill is

required to handle the results appropriately. Giving the diagnosis of Down's syndrome to parents,

either antenatally or in the immediate postpartum period, requires all of the doctor's

communication and counselling skills. It is the general practitioner to whom most parents would

prefer to turn for this information.

Although parents should have been prepared for the diagnosis of Down's syndrome

before the test took place, even the best pre-test counselling does little to offset the shock of an

unexpected diagnosis. Initial shock and denial can be anticipated as part of a sudden shift in

parental expectations. Most parents experience a need for concise, accurate and non-judgmental
 McArthur 6

information on which to base their decision. Contact with the Down's Syndrome Association

might be helpful if the parents are agreeable.

One of the great challenges for doctors when trisomy 21 is detected prenatally is to give a

balanced and complete explanation of the options available to the parents so that they can come

to an informed decision whether to continue with the pregnancy or not. This includes giving

accurate information about Down's syndrome and the range of expectations they could have for

the child, while not trying to be impossibly predictive.

If termination of pregnancy is selected after adequate discussion, the full impact of that

procedure must be explained. Careful follow up should be arranged to ensure that an appropriate

grieving process for the loss of the pregnancy takes place. Insensitive statements such as "Forget

this one and start again" are cruel and ignorant.

The detection of trisomy 21 prenatally does not always result in the termination of that

pregnancy. During pre-test discussions with the parents, when information is given about the

conditions being sought, it might become apparent that the couple would not choose to abort an

affected pregnancy but just want to know as much as possible so that they can be prepared for

the baby's arrival. It is vital that all couples be adequately prepared for any screening tests so that

they understand what the test is for, what its dangers are and what options are available should

the test be positive for the condition being sought.

The way in which the diagnosis of Down's syndrome is communicated is another area

where the consumers of our medical services have expressed dissatisfaction.

The firm diagnosis of Down's syndrome on phenotypic grounds is usually possible immediately

after delivery. The doctor who tries to avoid making the diagnosis for a few days until the
 McArthur 7

karyotype is known will only be pre-empted by a grandparent. It is essential to inform the

parents, at least of your suspicions, as soon as possible after delivery.

Although Down's syndrome is not a medical illness, there are a number of pathological processes

which are more common in people who have the condition. These associations will necessarily

bring people with Down's syndrome into frequent, and at times intensive, contact with doctors.

Immediately after delivery the child should be fully examined to confirm the diagnosis

and to identify any immediate medical problems. Pediatric consultation is appropriate in most

situations.

Congenital heart disease, usually in the form of endocardial cushion defects, affects 40%

of babies and should be screened for by echocardiography soon after birth as it may well be

difficult to detect. Septal defects and Fallot's tetralogy also occur. The discovery of severe

congenital malformations often raises the issue of how interventive to be. It must be emphasized

that exactly the same medical and surgical treatment should be instituted for a child with Down's

syndrome as for a child without a chromosomal disorder.

Severe congenital heart disease remains a major killer of children with Down's syndrome, despite

advances in surgical treatments. In the absence of a congenital heart defect, however, the

majority of children can expect to live into their sixth decade.

The commonest congenital abnormality of the gastrointestinal tract associated with

Down's syndrome is duodenal atresia, although pyloric stenosis, Hirschsprung's disease and

tracheoesophageal fistulae have all been reported. Again, surgical intervention should be

evaluated without reference to the chromosomal disorder. The total incidence of GIT

malformations is approximately 12%.

 McArthur 8

Three percent of newborn babies with Down's syndrome will have dense congenital

cataracts which should be removed early. Glaucoma is also more common. Hypotonia is a

constant feature of neonates with Down's syndrome. This floppiness can interfere with

breastfeeding and an experienced lactation consultant may need to be involved to ensure that the

process is successful. Feeding tends to take longer and there may be attachment problems due to

a protuberant tongue. Some babies experience difficulty maintaining temperature and may need

extra swaddling during feeding. Constipation is more common due to hypotonic gut musculature.

This condition is slightly more prevalent in babies with Down's syndrome. It should be detected

by the routine screening performed on all neonates.

Joint laxity and hypotonia can combine to increase the incidence of hip dislocation,

although true congenital dislocation is quite rare. Extra care should be taken during the usual

neonatal examination. Once any urgent medical conditions have been addressed and feeding has

been successfully established, the parents will take their new baby home. If the general

practitioner has not been involved during the in-patient stay, early contact is important to allow

an assessment of the child's baseline medical condition. This "well child check" means that the

doctor need not be confronted for the first time by an unfamiliar and obviously sick child several

months later.

Medical care in the first year of life will include the continued management of any

problems identified in the neonatal period as well as surveillance for acquired problems such as

hearing or visual impairments. Early and regular contact with appropriately-experienced

consultants should begin in the first year.

Seizure disorders are more common in children with Down's syndrome (approximately 10%) and

can occur from an early age. They are usually tonic clinic in nature.
 McArthur 9

People with Down's syndrome have reduced cell-mediated immunity and so babies in particular

are likely to suffer more respiratory infections. Upper airway obstruction is also more common

due to hypertrophy of tonsils and adenoids. This alteration in immunity has also been implicated

in the observed increase in incidence of leukemia in people with Down's syndrome, although the

link is not clear. In practical terms the decrease in immunity has little impact. The normal

childhood immunization program should be commenced at the usual time.

The philosophy of "early intervention" is now well accepted as having benefits for the

child and family. This refers to home-based or center-based treatment of a disabled child by a

variety of health professionals such as occupational therapists, physiotherapists, and speech

therapists from a very early age. The parents are also involved as therapists. These recognized,

government-sponsored programs tend to be preferable to the so-called "fringe" therapists who

can be exhausting of parental resources without producing many results.

As the child grows through the preschool years it will become evident that development

is globally delayed. Physical milestones will be delayed due to hypotonia and joint laxity, speech

is likely to be difficult and socialization may be delayed. Psychometric evaluation shows that

most children with Down's syndrome have intellectual functioning in the moderately disabled

range, but the range is enormous. At this time, it is useful to assist the parents in recognizing that

a different set of milestones is relevant for this child, and that comparing its progress to that of

siblings is not much help. Comparing notes with other parents of children with Down's syndrome

is helpful but it must be remembered that each child will follow their own path. It is important

not to make too many predictions as to how far and how fast the child will develop but the mood

should be one of optimism and reasonable expectations, as for all children.

 McArthur 10

The general practitioner's lifelong relationship with the child should be developing well at this

point. Familiarity with what is normal for that child will allow the early recognition of any health

problems, as will an awareness of which medical conditions are more common. Beyond that,

however, the astute GP will remember that the child with Down's syndrome is susceptible to the

same range of childhood problems as any other and that not all symptoms will be due to the

syndrome.

The GP's approach to a child with Down's syndrome should be the same as to any other

child: friendly, non-threatening and interactive. The parents are invaluable sources of

information about the child and, after several years of hard work, will have become staunch

advocates and "bureaucracy-busters". Their concerns should be addressed.

Having been involved in early intervention and preschool programs, most children with

Down's syndrome are well-equipped for entry to mainstream schooling at the usual time. There

remains a lot of debate over the relative merits of mainstreaming versus special schooling which

is outside the scope of this article. The doctor's role is generally to support the parents in their

decision making and to address any medical issues which may arise when selecting a school.

Severe malformations which cannot be definitively treated remain a major cause of morbidity

and mortality throughout childhood. Close liaison with a pediatric cardiologist should be

maintained.
 McArthur 11

Works Cited

Asim, A., Kumar, A., Muthuswamy, S. et al. “Down syndrome: an insight of the disease”. J

Biomed Sci 22, 41 (2015). https://doi.org/10.1186/s12929-015-0138-y. Accessed 9

December 2021.

Cicchetti, Dante. “Children with Down Syndrome : A Developmental Perspective.” Cambridge,

New York : Cambridge University Press, 1990, https://web-b-ebscohost-

com.sinclair.ohionet.org/ehost/detail/detail?vid=0&sid=aec2a49b-968a-4850-906c-

eb17494f1537%40sessionmgr102&bdata=JnNpdGU9ZWhvc3QtbGl2ZQ%3d

%3d#db=nlebk&AN=45881. Accessed 9 December 2021.

Data and Statistics on Down Syndrome | CDC. (2019, December 4). Centers for Disease Control

and Prevention. https://www.cdc.gov/ncbddd/birthdefects/downsyndrome/data.html.

Accessed 9 December 2021.

Development and learning for people with Down syndrome. (2021). Down Syndrome

Organization. https://www.down-syndrome.org/en-us/about-down-

syndrome/development. Accessed 9 December 2021.

Eckdahl, Todd T. “Down Syndrome : One Smart Cookie.” Momentum Press, 2017, https://eds-a-

ebscohost.com.sinclair.ohionet.org/eds/ebookviewer/ebook/bmxlYmtfXzE4NDEyNzZfX

0FO0?sid=b4682b9f-3de0-404e-bfcd-

5fe286260ec4@sessionmgr4008&vid=5&format=EK. Accessed 9 December 2021

FAQ and Facts about Down Syndrome. (2020, October 20). Global Down Syndrome

Foundation. https://www.globaldownsyndrome.org/about-down-syndrome/facts-about-

down-syndrome. Accessed 9 December 2021.

 McArthur 12

Glass, Chris. “Working With Hannah : A Special Girl in a Mainstream School.” London,

Routledge, 2000,

https://eds.a.ebscohost.com/eds/ebookviewer/ebook/bmxlYmtfXzYwOTk4X19BTg2?

sid=b4682b9f-3de0-404e-bfcd-

5fe286260ec4@sessionmgr4008&vid=9&format=EK&rid=2. Accessed 9 December

2021.

Hassold, Terry J. “Down Syndrome : A Promising Future, Together.” New York : John Wiley &

Songs, Inc., 1999,

https://eds.a.ebscohost.com/eds/ebookviewer/ebook/bmxlYmtfXzI2MTcwX19BTg2?

sid=b4682b9f-3de0-404e-bfcd-

5fe286260ec4@sessionmgr4008&vid=2&format=EB&rid=6. Accessed 9 December

2021.

Just Like You Films (Firm). Down Syndrome : Just Like You Films. Ebscohost, 2012, https://fod-

infobase-com.sinclair.ohionet.org/p_ViewVideo.aspx?xtid=81476. Accessed 9 December

2021.