down's syndrome short essays

Friday essay: on telling the stories of characters with Down syndrome

Lecturer in Creative Writing, University of the Sunshine Coast

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Sarah Kanake received funding from the Australian Post-graduate Awards to research representations of Down syndrome in fiction.

University of the Sunshine Coast provides funding as a member of The Conversation AU.

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In 2014 I was asked, by my then university, to present in a jovial end of year debate. My partner, brother and a few of my close friends came to watch. The auditorium was packed. There were university bigwigs on both teams. I was pretty nervous. It went well, although many of the debaters thought they were presenting in a real debate and the rest (myself included) had only prepared jokes.

At the end there was a question and answer section. Some members of the audience asked jokey questions relating to our topic. The university bigwigs answered them. Everyone laughed.

Then my brother stood up and asked why there were no intellectually disabled people on the panel, or as students, or as lecturers. He asked why there were hardly any people with Down syndrome in books, or songs, or plays, or movies. All the art forms we taught and sought to understand at the university.

The auditorium fell silent. Maybe because of the question, but probably because my brother has Down syndrome.

One of the university bigwigs stood up, cleared his throat, and gave as sensitive a response as he could. “Integration and representation are important issues but this is a forum for levity,” he said, “and your question is not one to be laughed at.”

My brother sat down. His question went unanswered.

When the debate was over my brother and I had the first real fight we’d ever had. I said he was a grandstander and an attention hog and that these were the people who could give me a job (or not) when I finished my PhD. Why did he have to ask that question, I asked. Why couldn’t he just shut up. Why couldn’t he just fit in? I said all the stuff I had never said before and had never even allowed myself to think.

Afterwards, I felt terrible and apologised. My brother said it was okay and that he was sorry too. We got over it.

But his question remained unanswered.

If integration and representation were important issues, like the university bigwig had said, why had no one tried to answer my brother’s question?

Maybe because as Leonard Davis wrote in his 2002 book Bending Over Backwards there’s,

a strange and really unaccountable silence when the issue of disability is raised (or, more to the point, never raised)… the concept of disability has been relegated to a sideshow, a freak show at that, far away from the academic midway of progressive ideas and concerns.

The thing is, I still can’t answer all the questions my brother asked that day.

I don’t know why there is such a culture of low expectation towards people with Down syndrome specifically. I don’t know why those expectations feed into our cultural understanding of what people with Down syndrome achieve, especially when so many of us have lived experience that says otherwise.

I don’t know why there were no students, or lecturers with Down syndrome at my university that day. But, after five years of research and study, I can answer why there are very few representations of Down syndrome in narrative fiction.

So, my brother Charlie, pretend I didn’t yell at you that day after the debate. Pretend I said this instead…

In 2012, the Global Down Syndrome Foundation stated that 38% of the population knew someone with Down syndrome .

In 2013, the National Dissemination Centre for Children with Disabilities said that :

Nearly 5,000 babies are born with Down syndrome in the United States each year. This means that 1 in every 733 babies is born with this condition.

But, despite this lived experience, there is still a crisis of representation around Down syndrome, particularly in narrative fiction.

Characters with Down syndrome are extremely uncommon, narrators with diagnosed Down syndrome are few, and sole narrators with Down syndrome are basically non-existent.

Why? After all, readers don’t just respond to novels with characters who have Down syndrome, they devour them. Novels like The Memory Keeper’s Daughter (2005) by Kim Edwards and Jewel (1991) by Brett Lott have sold millions of copies. Having said that, only a certain type of adult novel about Down syndrome is popular.

The Down ‘S’yndrome Novel.

The Down Syndrome Novel refers to a novel that builds the scaffolding of plot and story around the inclusion of a character with Down syndrome, making this character necessary for the plot. If you remove the character with Down syndrome (or their disability) from the narrative, the plot caves in.

I coined the term Down Syndrome Novel in my PhD thesis in order to discuss the style of narrative where Down syndrome is included. I refer to these narratives as Down Syndrome Novels in order to reflect importance of the syndrome within the narrative structure.

Thus, I also chose to eschew the contemporary lower case ‘s’ for the more traditional (and now almost obsolete) upper case ’S’ in order to immediately identify the otherness central to these novels. This is not to criticise the Down Syndrome Novel, but rather to present a line of difference between depictions of Down syndrome and those novels where Down syndrome is indispensable to the plot.

Building the syndrome into the plot is the most important element in the Down Syndrome Novel, and also the most limiting aspect for the character with Down syndrome.

Why? Because the Down Syndrome Novel is rarely (if ever) told through the perspective of a person with a disability: they are largely told by parents.

In telling the novel through the parent’s point of view the novel often presents the disabled character as an unexpected, and often unwanted, presence.

Whether this is as a child in the parental narrative, the forced friendship/sibling relationship, or a persistent (often sexual) threat, these narratives rely on archetypes of Down syndrome to form the spine of the narrative and these archetypes almost always exist somewhere on the polarised spectrum between monstrous and angelic.

The Down Syndrome Novel centres around disability and almost universally presents the character with Down syndrome as a problem within the narrative that the narrator must learn to overcome. This movement towards acceptance is the character arc, narrative problem and eventually, the plot. In creating, and thus remaining, within these character definitions the author builds clear and impenetrable boundaries around the disabled character, and the novel including a character with Down syndrome becomes a novel almost exclusively about Down syndrome.

Having said that, the Down Syndrome Novel tries. It tries really hard to create an environment of social diversity and change.

In fact, in seeking to become a dynamic force in social change, the Down Syndrome Novel often traps its hero beneath an avalanche of narrative expectation. Often the only way to remove this expectation is for the character to become incidental to the plot. Just a character in a story, not necessarily about Down syndrome, disability or social stigma and inclusion.

However, being “incidental” to the plot carries its own difficulties and silences. The incidental character with Down syndrome may be freer within the narrative, but this character will never be free to tell their own story.

Mitchell and Snyder discuss this gap in their book Narrative Prosthesis (2000):

The marginality of disabled people has occurred in the midst of the perpetual circulation of images of disability.

The marginalisation of the character with Down syndrome in narrative fiction is not about appearing in a novel, but having a voice and agency within the narrative. When writing about the intellectually disabled, few authors have situated themselves comfortably between the content of a character’s experience and the style necessary to accommodate difference.

Angel or monster

Representations of characters with Down syndrome have historically fallen into two polarised categories – angel and monster – with few transcending the boundaries to become fully realised characters with their own autonomous voice.

This lack of freedom in voice is generally connected to the fear of the character with Down syndrome and their inclusion into the world, even an imagined world.

Fear, of the body growing into adulthood while the mind stays behind in childhood [sic]. Fear, of how the first-person voice of a character with Down syndrome might change the landscape of the modern narrative, and perhaps even fear that the character with Down syndrome will transgress all normative boundaries.

These fears, felt and expressed by the writer, narrator and reader, are all ingrained in this lack of voice. These elements, when combined, create a culture of low expectation of the character with Down syndrome within the narrative.

The disabled character is often used to illustrate and embody a theme that exists outside their interior world. In her paper Depictions of Intellectual Disability in Fiction (2007) Anupama Iyer, consultant psychiatrist in adolescent developmental disabilities for St Andrew’s Healthcare, discussed this connection.

“A character with an intellectual disability [is] a silent Rorschach ink blot onto which society projects its devices and desires.”

In an interview regarding his particular interest in intellectual disability auhtor Mark Haddon supported this statement when he said:

“For me, disability is a way of getting some extremity, some kind of very difficult situation, that throws an interesting light on people”.

Here, Haddon identifies that disability is the key he uses to create conflict, and he isn’t the only one. In fact, most Down Syndrome novels use disability to create the central narrative conflict and, while these novels have clearly good intentions, this conflict only serves to distance the character even further from the reader. It makes Down syndrome “other”.

Most characters with Down syndrome, particularly within the Down Syndrome novel, are heterosexuals from white, middle-class (although often the families fall on hard times) multiple-children families. They are heavily normalised by the author and a narrative voice outside their intellectual disability but, as an intellectually disabled “Other”, characters with Down syndrome are sometimes capable of stretching their own limits using the vehicle of their disability.

In William Faulkner’s The Sound and the Fury (1929) Benjamin’s behaviour is heavily normalised by his family, particularly his sister Caddy. Benjamin - who has an unidentified severe intellectual disability - is admonished and condemned but any strangeness or disturbance in his behaviour is expected. He can use his disability for attention, and affection, and this is why, when he forces his hand through the fence, he unable to understand the terror and disgust he finds there.

While Benjamin is not capable of moving beyond the property borders unpunished, it is still possible for a character with Down syndrome to find freedom in traversing the boundaries of normative behaviour.

Dissolving boundaries

In my Gothic Tasmanian novel Sing Fox to Me (2016) I was extremely conscious of representing and dissolving boundaries around my protagonist with Down syndrome, Samson Fox, in order to create a narrative where Samson was free to move, evolve and change.

Because, just as a person with an intellectual disability has the right to be a “significant member of society”, so does a character with Down syndrome have a right to a belonging within the story that does not build them into the scaffolding of the narrative.

In her book Greater Expectations (2010) disability researcher Jan Gothard writes:

Inclusion means more than simply having people with disabilities in mainstream classrooms and workplaces. It’s about the state of mind which sees people with disabilities accepted as valued, significant and worthwhile members of society: people who have every right to belong.

When I started writing Sing Fox to Me, I wanted to understand why characters with Down syndrome didn’t seem to match up with the lived experiences expressed in books like Jan Gothard’s Greater Expectations or my own lived experience.

What I discovered is that the world both within and outside the novel is still struggling to understand the limits and expectations of Down syndrome.

Down syndrome is still something of a mystery because it is largely represented through archetypes, and images folded down through literature. There is in fiction, as there is in life, a culture of low expectation.

Ultimately, I do not expect to fill the gap in representations of Down syndrome within narrative fiction – no single author could – and my novel was certainly never intended to be the final word on how characters with Down syndrome could function within the novel.

After all, the novel is forever changing, and my hope is that characters with Down syndrome will diversify and change with it. My character with DS, Samson Fox, can be part of this change but he can’t carry the full weight of his disability. Samson can only tell one fictional story. He is only one voice in a symphony of what could be thousands, maybe even 1 in every 733.

I started questioning depictions of Down syndrome in fiction and writing Sing Fox to Me with the express purpose of changing something.

I wanted to change the world inside my library. I wanted to open a book and see a character with Down syndrome. I wanted to hear his voice and see inside his head. I wanted to know what he thought.

However, once the novel was finished and printed, I realised that what I really wanted to change was me. I wanted to be able to write about something I had yet to see in fiction, but I also wanted to show other authors that they could have higher expectations of characters with Down syndrome.

I wanted, as Foucault once said , to write a “book so that other books are possible, not necessarily written by me”.

My brother, Charlie, what do you think? Does this answer (at least part of) the question you asked that day at my university debate?

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Down Syndrome: A Death Sentence?

By Emma Barrett

Published: July 31, 2021

As I entered the hospital, my chest tightened. I marched down the long white hallway, flanked on either side by my grandparents and two younger sisters, and braced myself for what was ahead. My eyes were puffy, but I was determined that I was not going to cry again. Instead, I plastered a smile on my face and entered the Neonatal Intensive Care Unit (NICU), ready to meet my baby brother.

Immediately following his birth, Benjamin had been transferred to the NICU. Instead of the anticipated joy and excitement, his birth had brought me and my family worry and confusion. That week, I saw my dad cry for the first time. I did not see my mom at all. I was desperate to know what was going on and I hungrily latched onto whatever information my grandparents could tell me, which was not much. Slowly, I pieced what I could together. I learned that Benjamin had a hole in his heart and that he needed surgery. I learned that he could not breathe on his own and that he needed an oxygen tank to perform even this most basic function. Finally, I learned that Benjamin had Down syndrome.

When my grandma told me this, I sprinted up the stairs and into my room. I then collapsed onto my bedroom floor and, surrounded by piles of laundry, broke down in tears. I had no idea what Down syndrome was, but it didn’t sound good. And if this week was any indication, it was bad. It sounded painful and hard. I thought that it meant my baby brother wasn’t normal.

My reaction to my brother’s diagnosis, which could be dismissed as an overblown response from a fifth grade drama queen, is, in fact, not uncommon. In a study examining the social stigma surrounding Down syndrome, Dr. Renu Jain, from the Department of Pediatrics and Medical Humanities at the Loyola University Medical Center, found feelings of anger and grief to be very common among families who have just learned their infant has Down syndrome. In fact, Dr. Jain found that “upon the diagnosis of a [Down syndrome] fetus or infant, the parents go through a mourning process no less severe than the mourning of a death of an infant” (Jain). Parents who find out the diagnosis of Down syndrome before birth, through prenatal testing, terminate the pregnancy at a rate of 92%, an exceptionally high rate that is significantly higher than if the parents had learned of a physical disability (Lawson). These findings point to a very bleak view of the life of a person with Down syndrome. They suggest that the diagnosis of Down syndrome is comparable to death, that an individual with Down syndrome cannot live a good life, that this individual is inherently less than another without the same disability.

In a stark contrast to these views, a survey conducted by Dr. Brian G. Sokto, a doctor in the Division of Genetics at the Children’s Hospital in Boston, Massachusetts, found that individuals with Down syndrome report that “they are living happy and fulfilling lives” (Skotko). In a similar study, Melissa Scott, a researcher in the School of Exercise and Health Sciences at the Edith Cowan University, found that individuals with Down syndrome have a positive perspective on life and hold the general consensus “I have a good life” (Scott). They have desires similar to their peers, “including the rights to the same life opportunities” (Scott). They “like who they are and how they look” (Skotko). They love their families. This data points to a very different view of life than suggested earlier. What is the reason for this contradiction? If individuals with Down syndrome say that they have good lives, why are their voices not heard? Why is there such a strong prevailing social stigma against them?

Many researchers in this field suggest that this strong social stigma is, in part, a result of the lack of public knowledge and awareness of Down syndrome. Many people have never met or interacted with an individual with Down syndrome. Some do not know what Down syndrome is. Before my brother was born, I did not either.

Down syndrome is “a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21” (Mayo Clinic). The average human has 46 chromosomes, while those with Down syndrome have 47. This extra chromosome can cause both developmental and physical changes. In the United States, the Center for Disease Control estimates that there are 6,000 children born with Down Syndrome each year, making it the most commonly occurring chromosomal disability and learning disability.

While all individuals with Down syndrome have an extra chromosome 21 and share many of the same physical characteristics, Down syndrome does not affect all individuals in the same way. As the Mayo Clinic states, “Each person with Down syndrome is an individual — intellectual and developmental problems may be mild, moderate or severe” (Mayo Clinic). Down syndrome does not mean the same thing for every person.

In fact, many of the qualities previously associated with Down syndrome are no longer connected to the disability. In recent years, many of the perceived attributes of Down syndrome were found to be situational, rather than a result of the disability itself. As recently as 1980, the life expectancy for a person with Down syndrome was just 28 years (Global Down Syndrome Foundation). At this time, many individuals with Down syndrome were institutionalized and denied access to proper medical care and education. This institutionalization put individuals in an environment that facilitated “the rapid spread of infections between patients” (Bittles). Thus, poor health came hand in hand with Down syndrome, but sometimes as a result of the environment individuals were in, or their lack of access to even basic medical care.

Today, those with Down syndrome are not forcibly institutionalized. The life expectancy of an individual with Down syndrome is 60 years old, with some people living to their 80s and 90s. The medical community has made huge strides in addressing and treating some of the more negative effects of Down syndrome. There are now integrated school programs in which individuals with Down syndrome are able to attend school and learn alongside other children their age. There are better resources in place, especially for young children, to ensure they are cared for and stimulated in their early years (Jain). Maternal and familial support groups can be found in almost every area of the country, offering a fountain of encouragement, support, and advice for new families. In the United States, there are governmental financial entitlements available to families with a member who has Down syndrome. The diagnosis of Down syndrome is no longer a sentence to a short life with many barriers to success.

When my brother was born, I was unaware of all of this. All that was staring me in the face was the inside of the NICU. All I could hear was the puffing of the oxygen tank Benjamin had to be connected to at all times. My family, however, was surrounded by support. The doctors and nurses at the hospital were unwavering in their care and encouragement. Families who had children with Down syndrome reached out to us and shared their stories. This network of people assured us that everything was going to be more than okay, that it was going to be good.

The support we received, however, has not been found to be a shared experience. Families with members who have Down syndrome “have consistently reported that the initial information received from their healthcare providers was often inaccurate, incomplete, or offensive'' (Sokto). In medical literature, professionals tend “to present negative reports of Down syndrome” (Alderson). While these attitudes are not common to all medical professionals, those that do exist can spread misinformation and further stigmatize the disability.

Dr. Jain argues that “it is time for professionals to move from the medical to the psycho-educational field” (Jain). He says that “health professionals have the responsibility to help make public attitudes more accepting of [Down syndrome]” (Jain). If doctors are to do so, they must start with their own perceptions of Down syndrome first. A diagnosis of Down syndrome does not have to be something that is mourned. As seen in the move from institutionalization in the 1980s to today, the assistance of medical professionals has been crucial in improving the quality of life of those with Down syndrome. A shift in medical attitude can make a world of difference in countless lives. One key way this shift can occur, which is surprisingly lacking in both the medical field and wider literature, is hearing from the voices of people with Down syndrome themselves.

On finding out that a child has Down syndrome, questions that first come are ones such as, “What does it mean to have [Down syndrome]? Will my baby with [Down syndrome] be happy? Will my baby have a good life?” (Skotko). These are questions that can be best answered by individuals with Down syndrome themselves. And, as noted earlier, the response is a resounding “Yes.” Yes, they can be happy. Yes, they can have a good life.

In a moving speech to the United States Senate on Capitol Hill, Frank Stephens, a man with Down syndrome, petitioned for more research concerning Down syndrome. This speech came in response to the recent shift away from research into Down syndrome and advancements that can improve them, to research in how to detect and prevent Down syndrome, primarily through termination. Stephens addressed the Senate saying, “I am a man with Down Syndrome and my life is worth living.” He went on to say that not only was his life worth living, but that “we are an unusually powerful source of happiness: a Harvard-based study has discovered that people with Down Syndrome, as well as their parents and siblings, are happier than society at large. Surely happiness is worth something?” He asked the Senate for “answers, not ‘final solutions.’”

Stephens’s words mirrored those of other individuals with Down syndrome and their families on their happiness. In Skotko’s study, when individuals were asked, “What would you like to tell doctors about your life with Down syndrome?”, the top two responses were “Life is good/I’m happy to be alive/positive” and “Please take care of our medical needs.” These two appeals cut to the heart of the matter. Down syndrome is not a death sentence. Those with Down syndrome can live a happy and fulfilling life; their disability does not undercut this. Their medical needs should have as much of a voice as anyone else’s. They, too, deserve supportive doctors who want to help. They deserve doctors who do not see their lives as less. This recognition is the start of changing the social stigma against Down syndrome.

Another frequent response to Skotko’s survey was the simple statement that “It’s okay to have special needs.” These individuals who responded embraced what society as a whole has yet been unable to, the message that it’s okay to be different. As Rhonda Faragher, a professor at the School of Education at The University of Queensland puts it, “Those of us in the disability sector...have learned to value human diversity.” Different doesn't mean unhappy. Different doesn't mean better off dead.

Many of those with Down syndrome do not factor ability into their happiness. Skotko found in his study that different functional abilities in fact had no bearing on self-esteem and reported happiness. In her study, Scott found that in their descriptions of their lives, not one of the individuals mentioned “impairments of body functions and structures.” Instead, in both groups, individuals pointed to struggles and hopes very similar to those of their peers. Some of these included the desire for independence, a relationship, and education.

In interviews with parents, researchers have found that their perceptions of their child with Down syndrome change over time as well. By spending time with the child and interacting, many parents found their initial perception to change completely. Lawson and Walls-Ingram, two researchers at the University of Saskatchewan, conducted a study in which they found that “personal contact with individuals with [Down syndrome] was associated with more favorable attitudes toward [Down syndrome].” The more time and awareness that is devoted towards looking at people with Down syndrome as just that, people, not as problems, can disprove many of the stereotypes and misconceptions surrounding the disability.

In one month, Benjamin will turn eight years old. He is enrolled in a nearby public school’s special ed program and is close to completing second grade. He loves swimming, drawing, and Taylor Swift. He is also one of the happiest kids I know. His birth did change my life, but not in the ways that I thought it would. For me, Benjamin has been a constant source of joy and love.

This is not to say that Benjamin has not presented a set of difficulties; he has, just like all my other siblings. His are of a different variety and are sometimes more extreme. Through all of this, however, I have never questioned if his life is worth living, worth as much as mine, or if he is happy. The answers to these questions are all the same. Yes, of course. If I could tell my fifth grade self anything, it would be that Benjamin is an unbelievable gift, from top to bottom. There is no need for worry or fear.

Works Cited

Alderson, Priscilla. “Down's Syndrome: Cost, Quality and Value of Life.” Social Science & Medicine , vol. 53, no. 5, Elsevier Ltd, 2001, pp. 627–38, doi:10.1016/S0277-9536(00)00365-8.

Bittles, Ah, and Ej Glasson. “Clinical, Social, and Ethical Implications of Changing Life Expectancy in Down Syndrome.” Developmental Medicine & Child Neurology , vol. 46, no. 04, 2004, doi:10.1017/s0012162204000441.

“Down Syndrome.” Mayo Clinic , Mayo Foundation for Medical Education and Research, 8 Mar. 2018, www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977.

Faragher, Rhonda. “Research in the Field of Down Syndrome: Impact, Continuing Need, and Possible Risks from the New Eugenics.” Journal of Policy and Practice in Intellectual Disabilities , vol. 16, no. 2, John Wiley & Sons, Inc., 2019, pp. 130–33, doi:10.1111/jppi.12305.

Friedersdorf, Conor. “'I Am a Man With Down Syndrome and My Life Is Worth Living'.” The Atlantic , Atlantic Media Company, 31 Oct. 2017. https://www.theatlantic.com/po...

Jain, Renu C., et al. “Down Syndrome: Still a Social Stigma.” American Journal of Perinatology , vol. 19, no. 2, Copyright © 2002 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA. Tel.: +1(212) 584-4662, 2002, pp. 099–108, doi:10.1055/s-2002-23553.

Scott, Melissa, et al. “"I Have a Good Life": The Meaning of Well-Being from the Perspective of Young Adults with Down Syndrome.” Disability and Rehabilitation , vol. 36, no. 15, Taylor & Francis, 2014, pp. 1290–98, doi:10.3109/09638288.2013.854843.

Skotko, Brian G., et al. “Self-Perceptions from People with Down Syndrome.” American Journal of Medical Genetics. Part A , vol. 155, no. 10, 2011, pp. 2360–69, doi:10.1002/ajmg.a.34235.

“What Is Down Syndrome?: National Down Syndrome Society.” NDSS , National Down Syndrome Society, www.ndss.org/about-down-syndrome/down-syndrome/.

Take a look at the fourth paragraph. How does Barrett transition from her personal narrative to an academic source?

What academic sources does Barrett use to offer the point of view of people with Down syndrome? At what points in the essay does Barrett use academic sources to build her credibility and authority to speak beyond her own first-person experience?

What are the author’s inquiry questions, and where does they first appear in the essay? In a few sentences, how would you summarize the author’s answer to her inquiry questions?

What did you learn from reading this essay?

What seems to be the author’s purpose in writing this essay? What audience(s) does the author seem to want to address?

Emma Barrett

Emma Barrett is a current sophomore majoring in the Program of Liberal Studies with minors in Business Economics and Constitutional Studies. She is originally from South Bend, Indiana, and is the oldest of seven. In her essay "Down Syndrome: A Death Sentence?" Emma sought to answer questions that arose for her after her youngest brother was diagnosed with Down Syndrome. She would like to thank Professor Joanna Want for her help and guidance in this essay.

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What Is Down Syndrome?

Causes and risk factors, living with down syndrome.

• Complications
• Next in Down Syndrome Guide Down Syndrome: Symptoms and Intellectual and Physical Traits

Down syndrome is a lifelong genetic condition that begins to have effects before birth and can significantly impact many aspects of a person’s life.

People who have Down syndrome can experience physical effects as well as cognitive challenges. However, the severity of the condition varies from person to person, and many people living with Down syndrome can lead happy, productive, and healthy lives.

This article describes the types of Down syndrome, its causes, risk factors, symptoms, screening tests, and long-term outlook.

manonallard / Getty Images

Types of Down Syndrome

Down syndrome is congenital, which means that it is present at birth. In fact, Down syndrome is present at conception. The condition occurs when a fertilized egg has an extra copy of chromosome 21. Down syndrome is also called trisomy 21.

The types of Down syndrome differ based on chromosomal patterns, as follows:

• Trisomy 21 : This is the most common type of Down syndrome. It occurs when a person has three copies of chromosome 21 in each cell of their body. A person's typical number of chromosomes is 46 (in 23 pairs). A person with Down syndrome has 47 chromosomes if all other chromosome pairs are typical.
• Mosaic Down syndrome : This type of Down syndrome occurs when there is a mixture of some cells in the body with trisomy 21 and some cells in the body without an extra chromosome 21. The symptoms can be similar to symptoms of full trisomy 21, but sometimes the effects are milder. It is seen in about 2% of people diagnosed with Down syndrome.
• Translocation : This type occurs when a person has extra chromosome 21 genetic material attached to another chromosome. With this type of Down syndrome, the person may have 46 chromosomes in their cells. About 3% of people diagnosed with Down syndrome have this type.

The extra genetic material from the third copy of chromosome 21 causes the body to develop differently. This occurs whether a person has full trisomy 21, mosaic Down syndrome, or translocation.

This produces changes in the developing fetus's physical features. Many of the changes are present at birth, and some can develop as the child grows into adolescence and adulthood. 

Risk factors for Down syndrome include:

• Advanced age of the parents, especially females age 35 and older at the time of conception. It's important to understand that if the genetic parents are in an at-risk age, a surrogate who is below the at risk age does not reduce the risk.
• A family history of Down syndrome or another chromosomal disorder in a parent or sibling

Down Syndrome and Genetics

The genetic pattern of Down syndrome occurs due to the presence of an extra copy of chromosome 21 in the parents' egg cell or sperm cell. A child should normally receive only one copy of each chromosome from each parent—resulting in two copies of each chromosome in every one of the child’s cells.

When cells from either parent have two copies of any chromosome, this results in trisomy (the presence of a third copy) in all of the growing baby’s cells throughout their life. Trisomy cannot be repaired with any type of medical intervention. 

The process that causes an egg cell or a sperm cell to have an extra copy of a chromosome is called nondisjunction. It occurs during the formation of the egg and the sperm cell, prior to the embryo's conception. 

Down syndrome is not usually inherited—most people who have Down syndrome are the first in the family to have it, and their parents do not have the condition. However, it can be passed from parent to child if a person who has Down syndrome becomes pregnant or impregnates someone.

How Common Is Down Syndrome?

Down syndrome affects approximately 1 out of every 675 live births.

What Are the Symptoms of Down Syndrome?

Several characteristic physical changes and symptoms occur due to Down syndrome. These changes are often recognizable at birth, but some children might not have obvious features until early childhood.

Many of the physical features—short stature, heavy build, and prominent eyelids—might resemble other family members who do not have Down syndrome, potentially making the condition less recognizable.

Effects of Down syndrome include:

• Skeletal differences
• Short stature 
• Heart malformations
• Abnormal lung development 
• Intestinal malformations 
• Learning difficulties 
• Weak immune system
• Hypothyroidism (low function of the thyroid gland)

People who have Down syndrome have a higher-than-average risk of developing Alzheimer’s dementia later in life. Sometimes people who have Down syndrome have blood cell abnormalities affecting white blood cells and red blood cells.

Screening for Down Syndrome During Pregnancy

It is possible to identify Down syndrome during pregnancy. Testing and screening are not a standard part of prenatal care, but they can be done at the pregnant person's request.

Sometimes people who are at risk of having a baby with Down syndrome may request a screening test during pregnancy. But some people do not want to screen, even if they know that their baby is at high risk. And some people may ask for a screening test even when they do not have an elevated risk. 

First Trimester

A pregnant person can have a quad screen early in pregnancy. This blood test measures hormones in the pregnant person’s blood that might be abnormal if the growing baby has Down syndrome or other congenital problems. The test cannot rule in or rule out Down syndrome.

Second Trimester

Ultrasound testing can examine the fetus’s physical features, potentially identifying some characteristics that can occur with Down syndrome—such as heart malformations. This test can reliably identify developmental differences, but it does not rule in or rule out Down syndrome.

A chromosomal examination can be done with amniocentesis or chorionic villi sampling. These minimally invasive procedures involve collecting a sample of cells that are genetically identical to the baby’s cells. The cells are collected with a needle using ultrasound guidance.

This test can definitively diagnose Down syndrome and specifically identify the type of Down syndrome.

Living with Down syndrome is a challenge for the whole family. Accommodations are often necessary to achieve learning goals and physical development during the toddler and school-age years. Many school districts offer accommodations for people who are living with Down syndrome,

Additionally, parents should seek the assistance of a multidisciplinary healthcare team to get the testing, therapy, and assistive devices needed to optimize quality of life.

Socializing is possible for people who have Down syndrome. Many people with Down syndrome can develop friendships and a supportive community.

People with Down syndrome can enjoy hobbies and other interests and often pursue those interests with lessons or classes. Many people with Down syndrome also have talents that they work to improve, such as art, music, acting, and more.

Complications of Down Syndrome

Several complications can occur as a result of having Down syndrome. These are not caused directly by the chromosomal abnormality, but they can develop due to the physical changes that occur as a result of the chromosomal abnormality.

Examples of complications include:

• Scoliosis : This abnormal curve of the spine can develop due to spine differences and altered body positioning.
• Heart failure : The heart does not pump enough blood to meet the body's needs. Can be a result of heart defects, high body weight, and low physical activity
• Bowel obstruction : A blockage of the intestine can occur due to intestinal malformation and dietary factors.
• Lung aspiration : Drawing foreign substances into the lungs may occur due to contributing factors such as lung disease, scoliosis, and general weakness.
• Depression : This mood disorder can occur as a result of the impact of coping with physical and cognitive limitations.
• Infections : People who have Down syndrome can have a higher risk of infections, including severe effects of COVID-19 .

Long-Term Outlook for Down Syndrome

In general, many people with Down syndrome can live long and healthy lives. The life expectancy is improving and is now over age 55.

Many people with Down syndrome can work in a job compatible with their physical and cognitive abilities. Support groups and advocacy organizations can often help find resources for job placement, recreational activities, transportation, and financial aid. 

In general, people with Down syndrome are not able to live independently. Some may live with their families. Others may live in a group home or assisted living facility equipped to support their limitations and provide appropriate day-to-day help. 

Centers for Disease Control and Prevention. Facts about Down syndrome .

National Institute for Child Health and Human Development. Who is at risk for Down syndrome?

Antonarakis SE, Skotko BG, Rafii MS, et al. Down syndrome . Nat Rev Dis Primers . 2020;6(1):9. doi:10.1038/s41572-019-01437

Hendrix JA, Amon A, Abbeduto L, et al. Opportunities, barriers, and recommendations in down syndrome research . Transl Sci Rare Dis . 2021;5(3-4):99-129. doi:10.3233/trd-200090

Chicoine B, Rivelli A, Fitzpatrick V, Chicoine L, Jia G, Rzhetsky A. Prevalence of common disease conditions in a large cohort of individuals with Down syndrome in the United States . J Patient Cent Res Rev . 2021;8(2):86-97. doi:10.17294/2330-0698.1824

Hamaguchi Y, Kondoh T, Fukuda M, et al. Leukopenia, macrocytosis, and thrombocytopenia occur in young adults with Down syndrome . Gene. 2022;835:146663. doi:10.1016/j.gene.2022.146663

Nikjoo S, Rezapour A, Moradi N, Nassiri S, Kabir A. Willingness to pay for Down syndrome screening: a systematics review . Med J Islam Repub Iran . 2022;36:149. doi:10.47176/mjiri.36.149

Lemoine L, Benoît Schneider. Family support for (increasingly) older adults with Down syndrome: factors affecting siblings' involvement . J Intellect Disabil. 2022:17446295221082725. doi:10.1177/17446295221082725

By Heidi Moawad, MD Heidi Moawad is a neurologist and expert in the field of brain health and neurological disorders. Dr. Moawad regularly writes and edits health and career content for medical books and publications.  

Mental Development in Children With Down Syndrome Research Paper

Down syndrome is a chromosomal disorder resulting from the existence of an extra copy chromosome 21. The condition got its name from John Land Down; the doctor who first described it. Down syndrome is associated with symptoms that impair cognitive ability, physical development and often alter facial appearance.

Down syndrome patients are also prone to various health complications including heart disease, hearing problems, dementia, gastroesophageal reflux disease, recurrent ear infections, obstructive sleep apnea and complications with their intestines, eyes, skeleton, and thyroid. Research has shown that the odds of having a baby with Down syndrome grow as the woman ages.

People with Down syndrome have largely varying levels of mental developmental disability. A few of these individuals have notable to extreme mental disability while others show little or no mental problem symptoms. Downs syndrome occurrence is estimated at about 1 in 800-1000 births.

A number of factors affect this statistic but the most profound influencing factor has been found to be the age of the mother. It is not unusual for people with the proper set of chromosomes to share some physical features associated with Down syndrome. Some of these shared features may include an unusually small chin, an unusually round face, a large protruding tongue, Simian crease across palms, uneven toe spacing and poorly toned muscles (Kumin, 113).

The health and overall development of children with Down syndrome can be greatly improved by early intervention, regular screening for any complications, vocational training, and the existence of a caring and supportive social environment. The physical implications of Down syndrome caused by the chromosomal disorders can however not be overcome. Ironically, Down syndrome has some positive health implications; Down syndrome patients have been observed to have greatly reduced incidences of cancer.

Mental development in children with Down syndrome varies greatly and at birth, it is not possible to predict the extent to which the child will be affected in terms of physical symptoms and cognitive development. Intervention methods for these children are normally unique depending on the individual and are developed soon after birth to ensure that the child gets the best chance at leading a normal life (Dykens, 250).

Speech delay is common among individuals with Down syndrome and the individuals need to be taken through speech therapy to help them develop speech. Walking in children could also be impaired by Down syndrome. Some children will not walk up to age 4, while others are able to walk at age 2.

Language learning can be enhanced by screening for ear problems and hearing loss, employing hearing aids (as necessary) and fostering timely communication intervention. The use of augmentative and alternative communication methods is common to aid in communication. Some of these methods include body language, pointing, signs, objects, and specially designed graphics.

Down syndrome does not have a cure or standard management program due to the diversity in its manifestation. Some individuals may need intensive surgery and therapy while others have minimal health complications and can lead normal lives without the need for any therapy. Parents of children with Down syndrome have come together to try and find alternative therapies to improve mental growth and physical appearance. Suggested methods are plastic surgery and nutritional supplements (Roizen, 150).

Ethically, there have been concerns about the number of abortions associated with Down syndrome. In the year 2002, 91-92% of pregnancies in the US diagnosed with Down syndrome were terminated. In the UK, the figure remains relatively constant at about 92%.

Strides have been made to ensure that individuals with Down syndrome are accepted more in society to facilitate their leading normal lives. Parents, teachers and other stakeholders have in recent years advocated the inclusion of these individuals in society rather than exclude them in isolated institutions as was the case before.

Works Cited

Dykens, Elisabeth M. “Psychiatric and behavioral disorders in persons with Down syndrome .” Mental Retardation and Developmental Disabilities Research Reviews 13(2007):272-278

Kumin, Libby.”Speech and language skills in children with Down syndrome.”Mental Retardation and Developmental Disabilities Research Reviews 2(1996):109-115

Roizen, Nancy J. “Complementary and alternative therapies for Down syndrome.”Mental Retardation and Developmental Disabilities Research Reviews 11(2005):149-155.

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Home — Essay Samples — Nursing & Health — Down Syndrome — The Causes and Physical and Mental Effects of Down Syndrome

The Causes and Physical and Mental Effects of Down Syndrome

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• Down syndrome

• The genetic basis of Down syndrome

There are 23 pairs of chromosomes, for a total of 46. Half the chromosomes come from the egg (the mother) and half come from the sperm (the father). This XY chromosome pair includes the X chromosome from the egg and the Y chromosome from the sperm. In Down syndrome, there is an additional copy of chromosome 21, resulting in three copies instead of the normal two copies.

Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. This extra genetic material causes the developmental changes and physical features of Down syndrome.

Down syndrome varies in severity among individuals, causing lifelong intellectual disability and developmental delays. It's the most common genetic chromosomal disorder and cause of learning disabilities in children. It also commonly causes other medical abnormalities, including heart and gastrointestinal disorders.

Better understanding of Down syndrome and early interventions can greatly increase the quality of life for children and adults with this disorder and help them live fulfilling lives.

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Each person with Down syndrome is an individual — intellectual and developmental problems may be mild, moderate or severe. Some people are healthy while others have significant health problems such as serious heart defects.

Children and adults with Down syndrome have distinct facial features. Though not all people with Down syndrome have the same features, some of the more common features include:

• Flattened face
• Protruding tongue
• Upward slanting eye lids (palpebral fissures)
• Unusually shaped or small ears
• Poor muscle tone
• Broad, short hands with a single crease in the palm
• Relatively short fingers and small hands and feet
• Excessive flexibility
• Tiny white spots on the colored part (iris) of the eye called Brushfield's spots
• Short height

Infants with Down syndrome may be average size, but typically they grow slowly and remain shorter than other children the same age.

Intellectual disabilities

Most children with Down syndrome have mild to moderate cognitive impairment. Language is delayed, and both short and long-term memory is affected.

When to see a doctor

Children with Down syndrome usually are diagnosed before or at birth. However, if you have any questions regarding your pregnancy or your child's growth and development, talk with your doctor.

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Human cells normally contain 23 pairs of chromosomes. One chromosome in each pair comes from your father, the other from your mother.

Down syndrome results when abnormal cell division involving chromosome 21 occurs. These cell division abnormalities result in an extra partial or full chromosome 21. This extra genetic material is responsible for the characteristic features and developmental problems of Down syndrome. Any one of three genetic variations can cause Down syndrome:

• Trisomy 21. About 95 percent of the time, Down syndrome is caused by trisomy 21 — the person has three copies of chromosome 21, instead of the usual two copies, in all cells. This is caused by abnormal cell division during the development of the sperm cell or the egg cell.
• Mosaic Down syndrome. In this rare form of Down syndrome, a person has only some cells with an extra copy of chromosome 21. This mosaic of normal and abnormal cells is caused by abnormal cell division after fertilization.
• Translocation Down syndrome. Down syndrome can also occur when a portion of chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception. These children have the usual two copies of chromosome 21, but they also have additional genetic material from chromosome 21 attached to another chromosome.

There are no known behavioral or environmental factors that cause Down syndrome.

Is it inherited?

Most of the time, Down syndrome isn't inherited. It's caused by a mistake in cell division during early development of the fetus.

Translocation Down syndrome can be passed from parent to child. However, only about 3 to 4 percent of children with Down syndrome have translocation and only some of them inherited it from one of their parents.

When balanced translocations are inherited, the mother or father has some rearranged genetic material from chromosome 21 on another chromosome, but no extra genetic material. This means he or she has no signs or symptoms of Down syndrome, but can pass an unbalanced translocation on to children, causing Down syndrome in the children.

Risk factors

Some parents have a greater risk of having a baby with Down syndrome. Risk factors include:

• Advancing maternal age. A woman's chances of giving birth to a child with Down syndrome increase with age because older eggs have a greater risk of improper chromosome division. A woman's risk of conceiving a child with Down syndrome increases after 35 years of age. However, most children with Down syndrome are born to women under age 35 because younger women have far more babies.
• Being carriers of the genetic translocation for Down syndrome. Both men and women can pass the genetic translocation for Down syndrome on to their children.
• Having had one child with Down syndrome. Parents who have one child with Down syndrome and parents who have a translocation themselves are at an increased risk of having another child with Down syndrome. A genetic counselor can help parents assess the risk of having a second child with Down syndrome.

Complications

People with Down syndrome can have a variety of complications, some of which become more prominent as they get older. These complications can include:

• Heart defects. About half the children with Down syndrome are born with some type of congenital heart defect. These heart problems can be life-threatening and may require surgery in early infancy.
• Gastrointestinal (GI) defects. GI abnormalities occur in some children with Down syndrome and may include abnormalities of the intestines, esophagus, trachea and anus. The risk of developing digestive problems, such as GI blockage, heartburn (gastroesophageal reflux) or celiac disease, may be increased.
• Immune disorders. Because of abnormalities in their immune systems, people with Down syndrome are at increased risk of developing autoimmune disorders, some forms of cancer, and infectious diseases, such as pneumonia.
• Sleep apnea. Because of soft tissue and skeletal changes that lead to the obstruction of their airways, children and adults with Down syndrome are at greater risk of obstructive sleep apnea.
• Obesity. People with Down syndrome have a greater tendency to be obese compared with the general population.
• Spinal problems. Some people with Down syndrome may have a misalignment of the top two vertebrae in the neck (atlantoaxial instability). This condition puts them at risk of serious injury to the spinal cord from overextension of the neck.
• Leukemia. Young children with Down syndrome have an increased risk of leukemia.
• Dementia. People with Down syndrome have a greatly increased risk of dementia — signs and symptoms may begin around age 50. Having Down syndrome also increases the risk of developing Alzheimer's disease.
• Other problems. Down syndrome may also be associated with other health conditions, including endocrine problems, dental problems, seizures, ear infections, and hearing and vision problems.

For people with Down syndrome, getting routine medical care and treating issues when needed can help with maintaining a healthy lifestyle.

Life expectancy

Life spans have increased dramatically for people with Down syndrome. Today, someone with Down syndrome can expect to live more than 60 years, depending on the severity of health problems.

There's no way to prevent Down syndrome. If you're at high risk of having a child with Down syndrome or you already have one child with Down syndrome, you may want to consult a genetic counselor before becoming pregnant.

A genetic counselor can help you understand your chances of having a child with Down syndrome. He or she can also explain the prenatal tests that are available and help explain the pros and cons of testing.

• What is Down syndrome? National Down Syndrome Society. http://www.ndss.org/down-syndrome/what-is-down-syndrome/. Accessed Dec. 16, 2016.
• Down syndrome fact sheet. National Down Syndrome Society. http://www.ndss.org/Down-Syndrome/Down-Syndrome-Facts/. Accessed Dec. 16, 2016.
• Messerlian GM, et al. Down syndrome: Overview of prenatal screening. http://www.uptodate.com/home. Accessed Dec. 16, 2016.
• National Library of Medicine. Down syndrome. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/down-syndrome. Accessed Dec. 16, 2016.
• Facts about Down syndrome. Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html. Accessed Dec. 16, 2016.
• Down syndrome. Eunice Kennedy Shriver National Institute of Child Health and Human Development. https://www.nichd.nih.gov/health/topics/down/conditioninfo/Pages/default.aspx. Accessed Dec. 16, 2016.
• Frequently asked questions. Prenatal genetic diagnostic tests. FAQ164. Pregnancy. American College of Obstetricians and Gynecologists. https://www.acog.org/-/media/For-Patients/faq164.pdf?dmc=1&ts=20161216T1208042192. Accessed Dec. 16, 2016.
• Ostermaier KK. Down syndrome: Management. http://www.uptodate.com/home. Accessed Dec. 22, 2016.
• Ostermaier KK. Down syndrome: Clinical features and diagnosis. http://www.uptodate.com/home. Accessed Jan. 10, 2017.
• Gabbe SG, et al., eds. Genetic screening and prenatal genetic diagnosis. In: Obstetrics: Normal and Problem Pregnancies. 7th ed. Philadelphia, Pa.: Saunders Elsevier; 2017.
• Rink BD, et al. Screening for fetal aneuploidy. Seminars in Perinatology. 2016;40:35.
• Bunt CW, et al. The role of the family physician in the care of children with Down syndrome. American Family Physician. 2014;90:851.
• Butler Tobah YS (expert opinion). Mayo Clinic, Rochester, Minn. Jan. 26, 2017.

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• Essay on Syndrome

Good Essay About Down’s Syndrome

Type of paper: Essay

Topic: Syndrome , Autism , Disorders , Family , Patient , Nursing , Children , Medicine

Published: 03/30/2023

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DOWN’S SYNDROME

Describe a patient with the condition of Down’s syndrome. Answer: Julie, an eighteen years old female patient was diagnosed with Down’s syndrome. She was dependent on her parents for basic routine tasks like washing and dressing. These issues began to pose as more problematic day by day as it was not possible for her to go out on trips with her friends. She was unable to move out of her home due to her extreme dependency on her parents (Katemeadsassociates.com, 2016).

What is Down’s syndrome?

Answer: Down’s syndrome is a medical condition that develops as a result of Trisomy of chromosome number 21. It results in delayed mental and physical development of the affected children. Some of the affected children may require intense medical attention, whereas some children may be able to lead a relatively normal life (Kidshealth.org, 2016).

How is the condition related to the patient’s genes?

Answer: The condition develops when there is trisomy of the 21st gene, that is, there is an extra copy of the 21st chromosome.

Signs and symptoms.

Answer: Some of the symptoms of this disease are: Short height Reduced muscular tone Short and wide neck Stocky legs and arms Slanting of eyes Pushed in nasal bridge Irregular teeth Mental dwarfism Heart defects Celiac disease Hypothyroidism Constipation Depression Respiratory illnesses Hearing defects Dental problems (WebMD, 2016) How the patient presented? Answer: A patient with Down’s syndrome usually presents with mental and physical dwarfism. The most problematic issue that a patient of this disease and his family comes across is the inability of the patient to carry on his or her routine work without any help.

Medication that may be used, why it is being used and what type of medicine is used?

Answer: Medications are not very commonly used for the treatment of the condition. However, in some situations analgesics may be used for relieving pain. Diuretics and digoxin are used for management of CHF secondary to CHD (emedicine.medscape.com, 2016).

Is there a particular concern in caring for a patient with Down syndrome, such as safety, mobility, special equipment, etc.?

Answer: Down syndrome patients may require behavioral therapy for getting accepted socially and improve their behavioural skills. They may also require occupational therapy and exercises for improvement of their motor skills (Mychildwithoutlimits.org, 2016).

What would you teach the patient and/ or family and why?

Answer: The most important lesson for the family of the patient is not to consider the child a burden and provide him with immense love and support. A dependent child needs more care and it is important for the parents to stand strongly by the side of the affected child.

Down Syndrome. (2016). Kidshealth.org. Retrieved 21 June 2016, from http://kidshealth.org/en/parents/down-syndrome.html Down Syndrome Medication: Analgesics, Other, Antidysrhythmics, Ia, Diuretics, Other. (2016).Emedicine.medscape.com. Retrieved 21 June 2016, from http://emedicine.medscape.com/article/943216-medication Down Syndrome Treatment. (2016). Mychildwithoutlimits.org. Retrieved 21 June 2016, from http://www.mychildwithoutlimits.org/understand/down-syndrome/down-syndrome-treatment/ Down Syndrome-Symptoms. (2016). WebMD. Retrieved 21 June 2016, from http://www.webmd.com/children/tc/down-syndrome-symptoms Teenager with Down's Syndrome | Case Study. (2016). Katemeadsassociates.com. Retrieved 21 June 2016, from http://www.katemeadsassociates.com/case-studies/item/downs-syndrome-child

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Home / Essay Samples / Health / Down Syndrome / The Overview of Down Syndrome Disease

The Overview of Down Syndrome Disease

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