Hannah Steinfels
Down Syndrome
Hannah Steinfels
English 115
Brenda Sully
December 1st, 2017
Down Syndrome
The Down syndrome was first mentioned by John Langdon Down in 1866, who subsequently
became the name giver for this disability. He described the conspicuous symptoms that those
affected displayed, but he could not explain where the differences originated. J.L Down
compared the appearance of people with Down Syndrome with the appearance of people from
Mongolia and thus the term “Mongolism” originated. (David Wright: A History of Down
Sydrome) Because of the implied racism, this word is no longer used to describe people with
Down Syndrome. People with Down Syndrome have a short, flat head with a round face. They
have slightly tilted eyes and a mono lid. Their mouth is often opened, and they have an
underdeveloped jaw with small teeth. This exacerbates the persons development of their mouth
motivity (speech) and it also affects their eating habits and food intake. The growth is delayed,
and a low muscle tension, slow reflexes and extremely flexible joints are accompanying
symptoms. This causes people with Down Syndrome to be overweight in many cases, since
they cannot be as physically active as the average healthy person. (Cunningham, C., et al. "Is
the Appearance of Children with Down Syndrome Associated with their Development and
Social Functioning?")
Not only are people with Down Syndrome physically different from healthy people, they also
suffer from mental disabilities. After the child is born, there are a number of actions that can be
taken and that can make a significant difference in the life of the child, like exercises that the
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Down Syndrome
support the development of the motor functions and language. Children with Down Syndrome
need on average 3 to 30 months longer to learn to crawl, walk, stand, and form words and
sentences, depending on the level of care they receive in their homes. It has been found many
times, that not all people with Down Syndrome have the same extent of mental disability, even
though they all have the same genetic condition. This means that with enough support, many
people with Down Syndrome can lead a relatively independent life or go to school. However, it
is crucial, that Down Syndrome patients do not get overwhelmed with the range of support
opportunities, since they tend to be very prone to physical and mental overload. A loving,
supportive and strong family that accepts the children with Down Syndrome is very important
for them and their developmental possibilities, since they often have a very high emotional
intelligence and sentiency. Many people with Down Syndrome additionally undergo ergo
therapy, speech therapy and physical therapy. The ergo therapy helps the people with Down
Syndrome to develop gross and fine motor skills, that they often struggle with because of their
thick finger and small hands, and because of the existence of the third chromosome 21 that
affects their movement as well. It also makes sense to include speech therapy since it is very
useful in the language development for children with Down Syndrome, because they suffer
from delayed speech development and poor oral motor skills .(Costa, Alberto C. S. "On the
Promise of Pharmacotherapies Targeted at Cognitive and Neurodegenerative Components of
Down Syndrome.") Speech motor skills are closely related to fine motor skills, so games can
be very useful for improving speech and motor skills and sign language and pictures can also
be very useful for their speech development. Most people with Down Syndrome have a welldeveloped understanding of language but a rather small active vocabulary. Physiotherapy for
children with Down Syndrome is a good way to counteract the hypotension they are suffering
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from, and the over-flexibility of the joints, which often accompanies the hypotension.
Physiotherapy promotes muscle control and supports motor development. Fun and successful
experiences in psycho-motricity help mentally disabled children to more self-confidence.
(Stagni, Fiorenza, et al. "Timing of Therapies for Down Syndrome: The Sooner, the Better.")
90 years after Downs observations, the French geneticist Jerome Lejeune discovered the cause
of Down Syndrome. He found that all people with Down Syndrome suffer from the same
genetic defect, namely that they have 47 chromosomes instead of 46 like a healthy human.
Only recently it has become commonly known, that this 47th chromosome is a mutation of the
21st chromosome and has 3 instead of 2 chromosomes. This explains the 3rd common name for
Down Syndrome; Trisomy 21 (lat. tri= three). This also means that Down Syndrome is not an
illness, since it can’t be treated because it is a genetic predisposition and thus immutable.
At a regular insemination, the gametes of the parents the oocyte and the sperm cell merge. Both
only have 23 chromosomes, due to a process called meiosis. After they merge, they from the first
cell of the new child, with 46 (23+23) chromosomes. If one of the gametes has an additional
chromosome, it would result in the child having 47 chromosomes (23+24) and with every cell
division new cells with 47 chromosome would develop. (Allen, Emily G., et al. " Trisomy 21
Assessed by the Origin of Chromosome Nondisjunction: A Report from the Atlanta and National
Down Syndrome Projects.")
Down Syndrome happens, when the additional chromosome is the 21st. All other chromosome
mutations with an additional chromosome are fatal, expect for Trisomy 13, 18 and 23. (Zhang,
H., et al. "Non‐invasive Prenatal Testing for Trisomies 21, 18 and 13) The procedure outlined
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above is the most common form of Down Syndrome and can be inherited. Another, more rare
form of trisomy 21 is caused by translocation. People that suffer from Down Syndrome caused
by translocation have a third chromosome 21 as well but a section of the chromosome is
connected to another, which is not supposed to happen. Even rarer than the first two types are the
“Mosaic” Down Syndrome. It is called mosaic Down Syndrome, because people have cells with
46 chromosomes and cells with 47 chromosomes, meaning only a percentage of their body has
down syndrome. This phenomenon usually occurs after the fertilization of the egg cell.
Immediately after birth, the Down syndrome can be diagnosed. The newborn should display the
very typical features, as described above. During pregnancy, Down Syndrome can be diagnosed
either using an amniotic fluid examination or a neck pleat measurement. Possible prenatal
diagnosis including an ultrasound during the 1st to the 3rd pregnancy month, where a nuchal scan
is taken. If the nuchal fold of the baby is enlarged to a certain amount, it is very likely that the
child has Down Syndrome. There are also a number of invasive test that examine the amniotic
fluid, that increase the risk of a miscarriage by about 1%. Thus, a chromosomal abnormality can
be detected early on in the pregnancy. Down's syndrome is considered a medical reason for
abortion, and about 90% of expectant parents choose to terminate the pregnancy with a child
with Down Syndrome. (Dixon, Darrin P. "Informed Consent Or Institutionalized Eugenics? How
the Medical Profession Encourages Abortion of Fetuses with Down Syndrome.")
The initial shock of the diagnosis of a disability of child often results in a period of grief and
adjustment that deprives the infant of some important happy emotional experiences. Mother and
child often feel a great pressure and rejection of society, which can in many cases also lead to a
termination of the pregnancy.
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Fortunately, Mr. and Mrs. Langsch, a couple that was willing to talk about their child’s life with
Down Syndrome beat the odds and kept their daughter Greta. "About half of those affected, with
the appropriate support, are able to develop skills in the lower normal range and lead a mostly
independent life. Others, on the other hand, are so severely handicapped mentally that even in
adulthood they need to be cared for like a baby. Thankfully, our daughter Greta is very bright
and even visits a regular school " Mrs. Langsch says she is not afraid of the task of raising a child
with down syndrome today, nor was she when she first found out about her daughter’s disability.
Mr. and Mrs. Langsch do not regret keeping Greta in their lives "What we're experiencing now is
family happiness, only differently Greta gives us twice as much [happiness] as a normal child
would every day," she says. Greta’s mother gave up on her dream of a Ph. D in Biology to
provide around the clock care for her daughter and believes “it is the best decision we have ever
made” Mr. Langsch says that he can not understand why in Germany, on average, nine out of ten
children with Down syndrome are aborted. "But just because she is disabled, I would not want a
live without her” them." In their community, Greta's parents receive a lot of respect. At the same
time, however, they also fight for a better understanding and acceptance of her daughter’s
disability. Parents, friends, relatives - almost everyone strongly advised the couple against
keeping Grata, says Mr. Langsch. Some even spoke of irresponsibility. Toddlers with Down's
syndrome show very little signs of their disability, he says. But when the children get older, they
need more extensive care. "Even Greta is only now slowly getting to an age where she needs
special attention, because the older children with down Syndrome are, the more apparent and
obvious their disability becomes." He also points to the often underestimated social challenges
parents face as soon as their children grow up. "The Down syndrome does not prevent anyone
from wanting the things that other people want. It certainly doesn’t stop Greta! A job, friends,
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relationships - these wishes might be harder to achieve for people like Greta but surely not
impossible!” (Greta Langsch, Markus Langsch, Rieke Langsch. Personal Interview)
Works Cited
Allen, Emily G., et al. " Trisomy 21 Assessed by the Origin of Chromosome
Nondisjunction: A Report from the Atlanta and National Down Syndrome
Projects." Human Genetics, vol. 125, no. 1, 2009, pp. 41-52.
Bittles, Alan H., et al. "The Four Ages of Down Syndrome." European Journal of Public Health,
vol. 17, no. 2, 2007, pp. 221-225.
Costa, Alberto C. S. "On the Promise of Pharmacotherapies Targeted at
Cognitive and Neurodegenerative Components of Down
Syndrome." Developmental Neuroscience, vol. 33, no. 5, 2011, pp. 414427.
Cunningham, C., et al. "Is the Appearance of Children with Down Syndrome
Associated with their Development and Social
Functioning?" Developmental Medicine and Child Neurology, vol. 33, no.
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4, 1991
Dixon, Darrin P. "Informed Consent Or Institutionalized Eugenics? How the Medical Profession
Encourages Abortion of Fetuses with Down Syndrome." Issues in Law & Medicine, vol.
24, no. 1, 2008, pp. 3.
Greta Langsch, Markus Langsch, Rieke Langsch
Personal Interview. 23 October 2017
Stagni, Fiorenza, et al. "Timing of Therapies for Down Syndrome: The Sooner, the
Better." Frontiers in Behavioral Neuroscience, vol. 9, 2015, pp. 265
Wright, David. “Down's Syndrome: The History of a Disability.” Oxford
University Press, Oxford; New York, 2010.
Zhang, H., et al. "Non‐invasive Prenatal Testing for Trisomies 21, 18 and 13:
Clinical Experience from 146 958 Pregnancies." Ultrasound in Obstetrics &
Gynecology, vol. 45, no. 5, 2015, pp. 530-538.