Running head: DOWN SYNDROME RESARCH PAPER

Down Syndrome Research Paper

Jordyn Aldrich
EDU 2010
SLCC
November 25, 2015

Running head: DOWN SYNDROME RESARCH PAPER

Running head: DOWN SYNDROME RESARCH PAPER

Down Syndrome is a genetic disorder that goes by many names; also known as 47,XX,
+21, 47,XY,+21, Down's syndrome, trisomy 21, and trisomy G (Genetics Home Reference,
2012). The most common mick name is trisomy 21 due to the condition stemming from the three
pairs of the 21st chromosome (WebMD, 2015). In 1866, English physician, John Langdon Down,
described the characteristics as a distinct condition and its the recognition that earned Down the
recognition as the father of the syndrome (National Down Syndrome Society, 2012). It wasnt
until 1959 when a French physician found the key to Downs research. Jrme Lejeune
identified Down syndrome as a chromosomal condition (NNDB, 2014). Instead of the usual 46
chromosomes present in each cell, Lejeune observed 47 in the cells of individuals with Down
syndrome (NNDB, 2014). The year 2000 was the big breakthrough for Down syndrome
research, when an international team of scientist came together and identified about threehundred twenty nine genes on the 21st chromosome (NNDB, 2014).
Down syndrome is one of the most common genetic birth defects (WebMD, 2015) and,
thanks to new age science and research on the condition, there is a test that can be performed
while the mother is still carrying that is called chorionic villus sampling (CVS) and
amniocentesis. There is a 1% risk of causing a spontaneous termination (miscarriage)
(National Down Syndrome Society, 2012); however, there is nearly 100% accurate in
diagnosing Down syndrome (National Down Syndrome Society, 2012). Both procedures are
performed during different trimesters of the pregnancy, CVS in the first trimester between 9 and
14 weeks (National Down Syndrome Society, 2012) and Amniocentesis is usually performed
in the second trimester between 15 and 22 (National Down Syndrome Society, 2012). Not only
do these procedures provide almost 100% accuracy, they also are able to distinguish between
these genetic types of Down syndrome: trisomy 21, translocation Down syndrome, and mosaic

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Down syndrome (National Down Syndrome Society, 2012); however, not all those giving birth
partake in the test during pregnancy, so after birth, the doctor is able to suspect the child carries
the extra chromosome based off of physical characteristics.
While there are the three forms of Down syndrome, trisomy 21, translocation Down
syndrome, and mosaic Down syndrome (National Down Syndrome Society, 2012) there are a
lot of medical conditions that come with them, making it hard to say this is one severity level,
this is another, and this is another since every single case is different. Overall, Down syndrome
is a genetic disease resulting from a chromosomal abnormality. An individual with Down
syndrome inherits all or part of an extra copy of Chromosome 21 (Genetics, Education,
Discovery, 2012). Although the overall concept is as simple as that, children born with the
condition have some degree of mental retardation, as well as characteristic physical features
(WebMD, 2015), there are many more obstacles that come along with the condition.
Some of the common physical characteristics, that doctors observe to assess, are low
muscle tone, a flat facial profile, a small nose, an upward slant to the eyes, a single deep crease
across the center of the palm, an excessive ability to extend the joints, small skin folds on the
inner corner of the eyes, excessive space between large and second toe (National Down
Syndrome Society, 2012), among others. The issue with the physical characteristic assessment of
the syndrome is that many of these physical features are found among those without Down
syndrome and not all of those who carry the extra chromosome have to physical features; so a
medical assessment called karyotype is performed by a medical physician. To obtain a
karyotype, doctors draw a blood sample to examine your baby's cells. They photograph the
chromosomes and then group them by size, number and shape. By examining the karyotype, they

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can determine accurately whether or not your baby has Down syndrome (National Down
Syndrome Society, 2012); but it doesnt end there.
Every case is different and many of these children also have other health problems
(WebMD, 2015), and is associated with intellectual disability, a characteristic facial appearance,
and weak muscle tone (hypotonia) in infancy (Genetics Home Reference, 2012). Right out of
the gate, all affected individuals experience cognitive delays, but the intellectual disability is
usually mild to moderate (Genetics Home Reference, 2012), about half of all affected children
are born with a heart defect (Genetics Home Reference, 2012), about 15 percent of people with
Down syndrome have an underactive thyroid gland (hypothyroidism) (Genetics Home
Reference, 2012), and a small percentage of children with Down syndrome develop cancer of
blood-forming cells (leukemia) (Genetics Home Reference, 2012); this is not even half of the
complications that could arise in the life of a person with Down syndrome.

Other side

effects, that vary case to case, are increased risk of hearing and vision problems, digestive
abnormalities, gastroesophageal reflux, celiac disease, include attention problems,
obsessive/compulsive behavior, and stubbornness or tantrums, speech and language develop later
and more slowly, and small percentage of people with Down syndrome are also diagnosed with
developmental conditions called autism spectrum disorders, which affect communication and
social interaction (Genetics Home Reference, 2012).
Later on in the life of a person with Down syndrome, approximately half of adults with
Down syndrome develop Alzheimer disease; although Alzheimer disease is usually a disorder
that occurs in older adults, people with Down syndrome usually develop this condition in their
fifties or sixties (Genetics Home Reference, 2012). Although there are many challenges,
modern day medicine has found ways to improve the conditions of those with Down syndrome

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so that as many as 80% of adults with this condition reach age 55, and many live longer
(WebMD, 2015).
The form of Down syndrome known as trisomy 21 is cause when the child 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 (Mayo Clinic,
2015). The rare form of Down syndrome is Mosaic Down syndrome, this is when children have
some cells with an extra copy of chromosome 21. This mosaic of normal and abnormal cells is
caused by abnormal cell division after fertilization (Mayo Clinic, 2015). The last form of the
syndrome is Translocation Down syndrome which is when part 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 material from
chromosome 21 attached to the translocated chromosome (Mayo Clinic, 2015).
As stated before, Down syndrome is one of the most common genetic birth defects
(WebMD, 2015), so common that each year in the U.S., approximately one in every 800 to
1,000 newborns has Down syndrome (WebMD, 2015) which means that approximately 5,000
children born with Down syndrome each year (WebMD, 2015). In the U.S. alone, Down
syndrome affects approximately 350,000 people (WebMD, 2015); the question is, how does this
happen? Down syndrome is a condition that does not discriminate, it occurs in people of all
races and economic levels (National Down Syndrome Society, 2012); the answer ultimately lies
with the genes of the parents.
Two of the three forms of Down syndrome seem to be related to the age of the mother, as
the mother gets old the risk becomes more likely; the translocation form does not seem to be
affected by the age. Statistics show that a Women giving birth at age 25, the likelihood is 1 in

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1,300 (National Institute of Child Health and Human Development, 2014) that the child will
have Down syndrome and at age 49, the likelihood is 1 in 25 (National Institute of Child
Health and Human Development, 2014) that the child will be affected; showing the tremendous
increase of risk with age. The only opposition to these statistics is that most children with Down
syndrome are born to women under age 35 because younger women have far more babies
(Mayo Clinic, 2015). The risk of having more than one child with Down syndrome is about a 1
in 100 chance (Mayo Clinic, 2015) if there is already with the condition in the picture.
Translocation Down syndrome differs from the other two in the sense that both men and women
can pass the genetic translocation for Down syndrome on to their children (Mayo Clinic, 2015).
Since Down syndrome is a chromosomal defect, there is no standard treatment.
Treatments are based on each individual's physical and intellectual needs as well as his or her
personal strengths and limitations (National Institute of Child Health and Human Development,
2014), meaning there is a lot of man power behind the interventions of those with Down
syndrome. There is the Early Intervention approach that varies from state to state but, the overall
goal is to help the child develop motor skills, language, social skills and self-help skills (Mayo
Clinic, 2015). There is a team set in place with every child that consist of a primary care
pediatrician to coordinate and provide routine childhood care, pediatric cardiologist, pediatric
gastroenterologist, pediatric endocrinologist, developmental pediatrician, pediatric neurologist,
pediatric ear, nose and throat (ENT) specialist, pediatric ophthalmologist, audiologist, physical
therapist, speech pathologist, and an occupational therapist (Mayo Clinic, 2015), depending on
the needs of the individual cases.
Down syndrome is a life-long condition that requires care from beginning to end. Since
there are so many conditions that can affect a child with Down syndrome, the individual may

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require immediate care right after birth, occasional treatment throughout childhood and
adolescence, or long-term treatments throughout life (National Institute of Child Health and
Human Development, 2014). This news can be something that may be completely devastating to
new parents expecting a perfect and healthy boy or girl; likely, there are an abundant amount of
resources for the parents every single step of the way. Programs of early intervention have a
great deal to offer to parents in terms of support, encouragement and information. The programs
teach parents how to interact with their infant or toddler, how to meet their child's specific needs
and how to enhance development (National Down Syndrome Society, 2012). Other resources
that families have available to them are books and websites, along with support groups. Support
groups and self-awareness seem to be among the most beneficial methods of resources.
The National Down Syndrome Society has a network of more than 375 affiliates
(National Down Syndrome Society, 2012) Aside from the plethora of support groups to choose
from, families also have a wide range of programs and services for individuals with Down
syndrome and their families, such as sibling workshops, expert-speaker presentations, early
intervention programs, social activities and events to raise public awareness (National Down
Syndrome Society, 2012); these are all within the National Down Syndrome Society alone. Some
people prefer their privacy in matters such as these so family members can also find Internet
support groups (Mayo Clinic, 2015). A support of any form will be beneficial as well as
maintaining self-awareness and keeping up with the individual needs of the family members. A
lot of the online resources share the importance of taking time for ones self to do something
you enjoy and find relaxing, and let yourself enjoy it (National Down Syndrome Society, 2012).
Aside from the family adjusting to the new lifestyle, there is still the inclusion of the
child into education and society. Individuals with Down syndrome are becoming increasingly

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integrated into society and community organizations, such as school, health care systems, work
forces, and social and recreational activities (National Down Syndrome Society, 2012) While
those with Down syndrome have becoming more integrated into society over the last century,
and integration is wanted, at a maximum level, for all of those with disabilities, the issue with
Down syndrome is that there are so many other health issues that can factor into a childs
development that it has to be based off of each case. Unfortunately, effective models for
inclusion do not yet exist in many parts of this country (National Down Syndrome Society,
2012) and the reason behind this is believed to be because Researchers have identified a variety
of perceptual, cultural and emotional barriers that cause people to resist the idea of students with
and without disabilities sharing the same classroom (National Down Syndrome Society, 2012).
It ultimately is up to the family members of the child to know and understand their childs
strengths and weaknesses, work with a team that they trust, and set up the course of action for
their childs education considering every case is different.
I find Down syndrome to be a very fascinating condition. It saddens me that, more times
than not, the child faces much more sever difficulties on top of the initial condition. I found it
slightly frustrating to look up information on the inclusion of students with Down syndrome
because there didnt seem to be much solid ground on topic. I have interacted, on several
occasions, with those who are affected by Down syndrome and can honestly say that their spirits
and abilities are something to envy, and there should be more inclusion throughout the school
systems. I really enjoyed reading the various site pages that talked about the support systems and
encouragement of those apart of the community; one page actually said, Welcome. Before this
research paper, I had Down syndrome in the back of my mind as something of interest and now
my interest is at its highest. I look forward to learning more, watching the development of

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science and how it will change the lives of those touched by this condition, and, hopefully, I will
get to experience the joy of working with these amazing humans.

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Resources
(2012, June). Genetics Home Reference - Your guide to understanding genetic conditions.
Down syndrome - Genetics Home Reference. Retrieved November 2015, from
http://ghr.nlm.nih.gov/condition/down-syndrome
(2015). WebMD - Better information. Better health.. What Is Down Syndrome? -- Types and
Causes. Retrieved November 2015, from
http://www.webmd.com/children/guide/understanding-down-syndrome-basics
(2012). National Down Syndrome Society - The National Advocate for People with Down
Syndrome Since 1979. What Is Down Syndrome? - National Down Syndrome
Society. Retrieved November 2015, from http://www.ndss.org/Down-Syndrome
(2014). NNDB: Tracking the entire world. John Langdon Down. Retrieved November 2015,
from http://www.nndb.com/people/774/000178240/
(2012). GeneEd - Genetics, Education, Discovery. Down Syndrome - GeneEd - Genetics,
Education, Discovery. Retrieved from
http://geneed.nlm.nih.gov/topic_subtopic.php?tid=142&sid=147
(2015). Mayo Clinic. The genetic basis of Down syndrome - Mayo Clinic. Retrieved 2015,
from http://www.mayoclinic.org/diseases-conditions/down-syndrome/multimedia/thegenetic-basis-of-down-syndrome/img-20007912
(2014). NICHD - Eunice Kennedy Shriver National Institute of Child Health and Human
Development. Down Syndrome: Overview. Retrieved 2015, from
http://www.nichd.nih.gov/health/topics/down