Documenti di Didattica
Documenti di Professioni
Documenti di Cultura
Down Syndrome
The Amazing Cookie
Todd T. Eckdahl
Down Syndrome: The Amazing 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 grew up in Boston with a passion for baking cookies.
She also grew up with Down syndrome. After graduating from C lemson
University, she tried to find a job, but was unsuccessful, and wondered
if her struggles were due to her genetic condition. Collette became
increasingly frustrated when job interviews seemed to go very well,
but she was told over and again that she was not a good fit for the job.
Encouraged by friends and family, Collette decided to create her own
job. She followed her childhood passion for baking cookies, and started
selling what she called The Amazing Cookie to a local grocery store.
The cinnamon chocolate chip cookie recipe was so popular that Collette
started her own company, called Colletteys Cookies (see URL in Bibli-
ography). The company markets cookies, but it also markets the idea that
people with Down syndrome, and those with disabilities in general, can
enjoy productive work lives. Collette was able to focus on her abilities in
her job instead of her disabilities. She likes to provide opportunities for
others by hiring them to work at her company, and by encouraging other
employers to hire them. Collette has received widespread media coverage
of her achievements and is effectively leveraging the attention to help
people with Down syndrome to secure productive and rewarding jobs.
The namesake of Down syndrome is John Langdon Down, a British
physician who published a research paper in 1866 that drew correlations
between the physical features of people with different ethnic backgrounds
and the severity of their inherited intellectual disabilities. Down described
people with Down syndrome as Mongolian idiots. For the next c entury,
the pejorative terminology persisted as mongolism or Mongolian idiocy,
and people who had it were referred to as Mongols, Mongoloids, or
Mongolian idiots. In 1959, French physicians Marthe Gautier and Jerome
Lejeune reported their discovery that people with Down syndrome
had 47 chromosomes instead of the normal c omplement of 46. They
discovered that the increase in chromosome number was due to the pres-
ence of three copies of chromosome 21 instead of two, which is called a
xii INTRODUCTION
trisomy. The discovery led people in the early 1960s to refer to Downs
namesake condition as trisomy 21 Down syndrome, which is still in
widespread use today. In 1965, the country of Mongolia sent a request
to the World Health Organization (WHO) to stop referring to trisomy
21 as mongolism, and to people who have it as Mongoloids. The WHO
responded to the request by adopting the name Down syndrome. In 2007,
the WHO followed the French Association for Research on Trisomy 21
and established March 21 (3-21) as World Down Syndrome Day. The
United Nations invited all of its member states to observe World Down
Syndrome Day in 2012, when Secretary-General Ban Ki-moon said:
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.
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
more often in children and adults with Down syndrome because their
airways tend to be smaller and their poor muscle tone makes coughing
less effective. The most common microbes in respiratory infections are the
bacterial pathogens Streptococcus pneumoniae and Haemophilus influenzae,
and the viral pathogen respiratory syncytial virus (RSV). Respiratory
infection symptoms of coughing, wheezing, fever, chills, and breathing
difficulty are usually more severe for people with Down syndrome, and
it takes longer for their infections to be cleared by their compromised
immune systems.
Children and adults with Down syndrome are more likely to get
other types of infections, too. The risk of middle ear infections (otitis
media) is increased by abnormalities in the bones and muscles of the
skull that prevent proper drainage of the fluid from the middle ear, and
by chronic upper respiratory infections. The symptoms of otitis media
include ear pain, headache, fever, external drainage of fluid from the ear,
loss of balance, and hearing loss. Infants and young children with middle
ear infections can display signs such as irritability, sleeplessness, loss of
appetite, and ear tugging. Children and adults with Down syndrome
also have an increased risk of urinary tract infections, which is correlated
with a higher prevalence of congenital abnormalities in the kidneys, the
bladder, the duct that carries urine from the kidneys to the bladder, and
the duct that empties the bladder. Urinary tract infections often cause
an increased frequency of urination, and produce symptoms such as pain
in the pelvis or lower back, nausea, fever, and vomiting. Bacterial skin
infections are more common among people with Down syndrome. They
Symptoms and Diagnosis 15
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