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Down Syndrome
One Smart Cookie
Todd T. Eckdahl
Down Syndrome: One Smart Cookie
Copyright © Momentum Press®, LLC, 2018.
DOI: 10.5643/9781944749620
10 9 8 7 6 5 4 3 2 1
Keywords
aneuploidy, chromosomal disease, Down syndrome, genetic disease, heart
defects, intellectual disability, mosaic Down syndrome, translocation
Down syndrome, trisomy 21
Contents
Acknowledgments....................................................................................ix
Introduction...........................................................................................xi
Chapter 1 Symptoms and Diagnosis...................................................1
Chapter 2 Causes and Contributing Factors.....................................17
Chapter 3 Treatment and Therapy....................................................35
Chapter 4 Future Prospects...............................................................45
Conclusion............................................................................................53
Glossary................................................................................................55
Bibliography..........................................................................................63
Index....................................................................................................69
Acknowledgments
I am grateful to my friend Malcolm Campbell for encouraging me to take
a leap of faith on this project, and on several others that have shaped my
career as a science educator. I value Malcolm as a teaching and research
collaborator, and I am proud of the positive impact that we have made
together on science education and the improvement of science literacy. I
am also grateful for the cheerful and professional support I received from
the publishing team at Momentum Press.
This book would not have been possible without the support of my
wife, Patty Eckdahl. She understands my passion for science and s cience
education and helps me to channel it in ways that benefit students and
others around me. I also appreciate the support and encouragement
that my parents, Tom and Bonnie Eckdahl, gave me in the pursuit of an
education that would give me the privilege of sharing my love of DNA
and genetics with undergraduate students and everyone else I meet.
I am grateful to my undergraduate genetics professor at the University
of Minnesota, Duluth, Stephen Hedman, for helping me to understand
that I could pursue my love of genetics in graduate school. Thanks to John
Anderson at Purdue University, who taught me to conduct m olecular
genetics research and to value undergraduate education. I appreciate the
environment that Missouri Western State University provided me for
following a path to becoming a science educator. I am grateful to my
mentors in the Missouri Western Biology Department, Rich Crumley,
Bill Andresen, John Rushin, and Dave Ashley, who helped me to learn
how to engage students in the classroom and the research lab. I a ppreciate
the many students that I have worked with in class and collaborated with
on research projects outside of class. I take pride in the contributions
that my former students have already made and will continue to make
to society.
Introduction
Collette Divitto was born in 1990 with Down syndrome. She grew up in
Ridgefield, Connecticut, where she developed a passion for baking after
taking classes in high school. After testing out several cookie recipes, she
came up with an original cinnamon chocolate chip cookie that people
really enjoyed. Because all of her friends and family raved, “This cookie
is amazing,” Collette decided to call her recipe “The Amazing Cookie.”
After high school, Collette attended Clemson University, and finished a
3-year LIFE program in just 2 years. With characteristic sass and a strong
drive to work hard and succeed, she moved to Boston, where she was sure
she would find a paying job. Although she went on many job interviews
that seemed to go very well, she always got an email saying something
like, “it was great to meet you, Collette, but at this time we feel you are
not a good fit for our company.” Because she was determined not to let
rejection stop her from earning a living and doing meaningful work, Col-
lette decided to turn her passion for baking into a business and founded
Collettey’s Cookies. She started by approaching a local grocery store, ask-
ing if they would sell “The Amazing Cookie.” The store became her first
of many clients. Knowing firsthand the struggles that people with Down
syndrome endure while looking for employment, Collette decided that
her company would be not just a means of earning a living, but it would
have a greater mission—to create jobs for other people with disabilities.
In late 2016, the Boston CBS TV affiliate featured Collette and her com-
pany on their nightly news program. Soon, she was flooded with orders.
The national news picked up her story, and Collettey’s Cookies went
viral. She has been featured on CNN, Good Morning America, MSNBC,
Inside Edition, BBC, and many other print and television media outlets
around the world. She has sold over 180,000 cookies to date, and Col-
lettey’s Cookies now employs 13 people, several with disabilities. Collette
travels around the country to share her inspiring story, and constantly
encourages people to focus on their abilities rather than what they can’t
do. Her ultimate goal is to work with lawmakers in Washington, D.C. to
xii INTRODUCTION
On this day, let us reaffirm that persons with Down syndrome are
entitled to the full and effective enjoyment of all human rights
and fundamental freedoms. Let us each do our part to enable
children and persons with Down syndrome to participate fully in
the development and life of their societies on an equal basis with
others. Let us build an inclusive society for all.
rights, and raises funds to support people with Down syndrome. Down
Syndrome International maintains a website dedicated to World Down
Syndrome Day to coordinate local and worldwide events, and provides a
forum for people to participate and share their experiences (see URL in
Bibliography).
Many people stand to benefit from societal improvements p romoted
by World Down Syndrome Day. Worldwide, there are between 6 and 9
million children and adults living with Down syndrome. The worldwide
occurrence of Down syndrome is about 1 in 700 births, which is about
130,000 babies per year. Most babies born with Down syndrome have
three copies of chromosome 21 instead of two, but 1 in 25 of them has
a chromosomal rearrangement in which part or all of chromosome 21 is
attached to another chromosome. In both cases, the extra genetic material
causes alterations in the embryological program of development that
result in the symptoms and health complications of Down syndrome.
Symptoms vary among people but can include congenital heart defects,
gastrointestinal problems, obesity, epilepsy, leukemia, dementia, Alzheim-
er’s disease, and an increased risk of certain infectious diseases. The lower
life expectancy for people with Down syndrome occurs primarily because
of congenital heart defects, which occur in about half of babies born with
Down syndrome. However, improved treatment in developed countries
has increased the life expectancy for people with Down syndrome from
less than 10 years a century ago, to 25 years in the 1970s, to over 60 years
today. The rise in life expectancy of people with Down syndrome and
the growing appreciation of their abilities to be educated and to pursue
work mean they are increasingly likely to make important contributions
to societies throughout the world.
This book presents Down syndrome as a genetic condition caused
by extra copies of most or all of the genes found on chromosome 21.
Chapter 1 describes characteristic physical features caused by Down syn-
drome and the myriad of symptoms and health complications it brings,
including heart defects, congenital vision and hearing loss, abnormalities
of the musculoskeletal system, digestive p roblems, epilepsy, leukemia, an
increased risk of infectious disease, intellectual disability, and dementia
from Alzheimer’s disease. It also presents m ethods by which Down syn-
drome can be diagnosed prenatally, or after birth. The underlying causes
xiv INTRODUCTION
stocky arms and legs with hyperflexible joints, and a stomach that sticks out
from poor abdominal muscle tone. The hands tend to be broad with short
fingers, and only one crease across the palm. The feet often have a larger gap
between the first and the second toe.
heart and the rest of the developing embryo. The fully formed heart
pumps blood through the circulatory system, which includes arteries
to deliver oxygen and nutrients to cells and tissues, and veins to return
blood carrying carbon dioxide and waste back to the heart for removal by
other organs. The circulatory system has a second circulatory circuit that
delivers blood from the heart to the lungs for the exchange of oxygen and
carbon dioxide and returns blood to the heart for delivery to the rest of
the body.
About 50 percent of all infants born with Down syndrome have some
type of heart defect. A common heart defect among Down syndrome
infants is atrioventricular septal defect (AVSD), which occurs when the
septa that normally separate the chambers of the heart, or the valves that
control blood flow between the chambers, fail to develop properly. A
complete AVSD incudes a hole in the septum between the two atria,
a hole in the septum between the two ventricles, and abnormal valves
between the atrial and ventricular chambers. An incomplete AVSD
occurs when there is a hole in the atrial septum and one abnormal valve.
AVSD reduces the ability of the heart to properly circulate oxygenated
blood to the body, and deoxygenated blood to the lungs, which places
an extra demand on the heart. The left ventricle normally generates high
blood pressure to circulate blood to the whole body, but the hole in the
septum between the two ventricles causes an abnormal increase in the
pressure of blood in the pulmonary artery that leads to the lungs. The
resulting pulmonary hypertension causes the lungs to fill with blood and
results in breathing difficulty, increased heart rate, swelling of extremities,
and cyanosis, which is a bluish skin color around the mouth, fingers,
and toes. The combined effects of AVSD on the heart and lungs often
result in congestive heart failure, during which infants develop symp-
toms such as faster and heavier breathing, sweating, and tiredness that
gradually worsen over a period of one or two months. Some infants with
a c omplete AVSD do not develop congestive heart failure because the
lungs are protected from increased blood pressure by constricted blood
vessels. Constricted blood vessels lead to pulmonary vascular disease
because of the reduced capacity to deliver oxygen to tissue throughout
the body. Some infants born with Down syndrome have a ventricular
septal defect (VSD) or an atrial septal defect (ASD), the severity of
4 DOWN SYNDROME
which depends on the size and location of the hole in the septum. A small
hole may produce no symptoms, whereas larger holes cause breathlessness
and poor weight gain. Infants with Down s yndrome are sometimes born
with patent ductus arteriosus (PDA), which is caused by the abnormal
persistence of a fetal channel that connects the pulmonary artery and
the aorta prior to birth. The ductus arteriosus directs blood away
from the nonfunctioning fetal lungs that do not have access to air yet.
At birth, when the lungs fill with air and begin to function, the ductus
arteriosus normally closes within one or two days. PDA occurs when
the ductus arteriosus remains open, and the consequence is p ulmonary
hypertension, with symptoms that include breathing difficulty, tired-
ness, and increased heart rate. Some Down syndrome infants are born
with t etralogy of Fallot (TOF), which includes the four congenital heart
abnormalities of VSD, narrowing of the passageway to the pulmonary
artery, enlargement of the right v entricle, and an enlargement of the valve
leading to the aorta. These heart defects cause reduced blood flow to the
lungs, which results in rapid breathing and cyanosis.
middle ear. Both causes of conductive hearing loss occur because Down
syndrome causes abnormal development of the Eustachian tube that
normally drains mucus from the middle ear. The cause of sensorineural
hearing loss is unknown for most people. The severity of sensorineural
hearing loss ranges from mild to profound, and it can cause hearing loss
of all sound frequencies, or it can selectively reduce hearing in the high,
medium, or low frequency ranges. Sometimes sensorineural hearing loss
develops later during childhood. It is important to distinguish between
prelingual hearing loss that occurs before a child learns to speak and
postlingual hearing loss because they present very different challenges
to language acquisition.
Another congenital problem that many Down syndrome infants have is
hypotonia, which is the occurrence of weak muscles throughout the body.
Infants with hypotonia seem “floppy” because of their weaker muscles, and
are often delayed in meeting developmental milestones such as r olling over,
sitting up, crawling, and walking. Hypotonia in the mouth and throat makes
it difficult for Down syndrome infants to take in and swallow breast milk
or formula, and weak muscles throughout the digestive tract impair diges-
tion and can lead to constipation and poor weight gain. I nfants with Down
syndrome are often born with ligamentous laxity due to loose ligaments
in joints throughout the body. Ligamentous laxity impairs the stability
of joints, making them more susceptible to hyperextension. Loose joints
contribute to an increased incidence of hip dislocations among children
and adolescents with Down syndrome. Another musculoskeletal condition
caused by Down syndrome is atlantoaxial instability, in which a loose
connection between neck vertebrae results in symptoms such as neck pain,
limited neck mobility, clumsiness, and walking difficulties. C hildren with
Down syndrome also have an increased risk of hip abnormalities, kneecap
dislocations, and flat feet.
Down syndrome infants have a higher than normal incidence of
birth defects affecting the digestive system. About 10 percent of infants
born with Down syndrome have Hirschsprung disease, which is caused
by missing nerve cell connections to the colon. Hirschsprung disease
prevents normal colon function and causes intestinal blockage that can
lead to a bdominal swelling, vomiting, and severe constipation. About
5 percent of infants born with Down syndrome have a c ongenital defect
Symptoms and Diagnosis 7
that prevents the normal function of the gastrointestinal tract. The most
common examples are tracheoesophageal fistula, which is an abnormal
connection between the trachea and the esophagus, esophageal atresia,
which means that the esophagus does not properly connect to the
stomach, and duodenal atresia, which is an improper connection from
the stomach to the small intestine. The symptoms of these three c onditions
include frothing at the mouth, coughing, choking, abdominal swelling,
and vomiting. Down syndrome can also cause imperforate anus, which
means that the opening from the anus to the rectum is blocked or m issing,
resulting in a swollen abdomen and the failure to pass a stool. The con-
dition of gastroesophageal reflux disorder (GERD) is characterized
by the abnormal reflux of acidic stomach contents. About 5 percent of
infants, children, and adults with Down syndrome have GERD, which
causes mild to severe heartburn and intolerance of certain foods. About
10 percent of people with Down syndrome have h ypothyroidism, which
means the thyroid produces lower levels of the hormones that control
metabolism throughout the body. The primary symptoms of hypothy-
roidism are fatigue, constipation, and abnormal weight gain. About 5
percent of children with Down syndrome have celiac disease, which is
associated with an immune reaction to gluten, and causes bloating, severe
gas, diarrhea, and anemia.
Figure 1.1 Human karyotype with chromosome pairs identified and information about the three types of
Down syndrome
Symptoms and Diagnosis
13
14 DOWN SYNDROME
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