Download Medical Conditions: Down Syndrome

Intervention with the Medically Fragile
Assignment One
Medical Conditions: Down Syndrome
Kayla Cusack
Intervention with the Medically Fragile
INTV 2013
Cheryl, Ramey
Due: October.5th, 2011
Submitted: October.5th, 2011
15 Pages
Cusack, Kayla
05/10/2011
Page 1
Introduction:
Down Syndrome is a medical condition that can result in an individual becoming
medically fragile. The following is a fact sheet on Down Syndrome that includes:
definition/description of Down Syndrome, potential symptoms/characteristics of Down
Syndrome, and the circumstances in which an individual would be considered medically
fragile as a result of Down Syndrome.
Cusack, Kayla
05/10/2011
Page 2
Part One
Definition & Potential Symptoms and Characteristics
Down Syndrome is a genetic condition also known as Trisomy 21. An individual
normally has 46 chromosomes, but an individual with Down Syndrome has 47
chromosomes instead. Down Syndrome is called Trisomy 21 because there is an extra
copy of chromosome 21 (the cause of). There are three copies of the chromosome
instead of two, which in turn affects the development of both the brain and the body.
Trisomy is the main form of Down Syndrome, but there are two other forms translocation and mosaicism. Down Syndrome is the most common medical condition a
child can be born with. It causes cognitive delay, specifically in the development of
language, behavior, and physical and intellectual aspects of development. Each child
with Down Syndrome is unique and varies in their abilities and skills (mentally and
physically).
Retrieved from (http://www.fetalscreening.com/birth_defects.php)
Cusack, Kayla
05/10/2011
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A woman may give birth to a baby with Down Syndrome based on three main risk
factors, which include:

The mother’s age – increases the chance if the woman is older, although 80% of
babies with Down Syndrome are born to women under 35 years of age (higher
fertility rates in younger women)

If a woman has already had a baby with Down Syndrome

If either parent has abnormalities in their chromosome 21
-
Both increase the risk of having (another) a baby with Down Syndrome
Potential symptoms and characteristics of Down Syndrome range from mild to severe,
as each individual is different. An individual’s physical appearance is the most obvious
symptom of Down Syndrome. Other symptoms/characteristics include:
Retrieved from (http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001992/):
Common physical signs include:

Decreased muscle tone at birth

Excess skin at the nape of the neck

Flattened nose

Separated joints between the bones of the skull (sutures)

Single crease in the palm of the hand

Small ears

Small mouth
Cusack, Kayla
05/10/2011
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
Upward slanting eyes

Wide, short hands with short fingers

White spots on the colored part of the eye (Brushfield spots)

The head may be smaller than normal and abnormally shaped. For example, the
head may be round with a flat area on the back. The inner corner of the eyes
may be rounded instead of pointed.

Physical development is often slower than normal. Most children with Down
syndrome never reach their average adult height.
Children may also have delayed mental and social development. Common problems
may include:

Impulsive behavior

Poor judgment

Short attention span

Slow learning
Medical conditions include:

Birth defects involving the heart, such as an atrial septal defect or ventricular
septal defect

Dementia may be seen

Eye problems, such as cataracts (most children with Down syndrome need
glasses)

Early and massive vomiting, which may be a sign of a gastrointestinal blockage,
such as esophageal atresia and duodenal atresia

Hearing problems, probably caused by regular ear infections

Hip problems and risk of dislocation

Long-term (chronic) constipation problems

Sleep apnea (because the mouth, throat, and airway are narrowed in children
with Down syndrome)
Cusack, Kayla
05/10/2011
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
Teeth that appear later than normal and in a location that may cause problems
with chewing

Underactive thyroid (hypothyroidism)

Research documents a high rate of obesity for people with Down Syndrome. This
could be due to medical concerns such as Gastroesophageal Reflux Disease
(GERD), hypothyroidism, and a lower basal metabolic rate (amount of calories
needed to support body when resting and awake). Retrieved from
(http://www.ncpad.org/nutrition/fact_sheet.php?sheet=197&section=1477)
A doctor can often make an initial diagnosis of Down syndrome at birth based on how
the baby looks. The doctor may hear a heart murmur when listening to the baby's chest
with a stethoscope. A blood test can be done to check for the extra chromosome and
confirm the diagnosis. Other tests that may be done include: Echocardiogram to check
for heart defects (usually done soon after birth), ECG, and X-rays of the chest and
gastrointestinal tract.
Persons with Down syndrome need to be closely screened for certain medical
conditions. They should have:

Eye exam every year during infancy

Hearing tests every 6 - 12 months, depending on age

Dental exams every 6 months

X-rays of the upper or cervical spine between ages 3 - 5 years

Pap smears and pelvic exams beginning during puberty or by age 21

Thyroid testing every 12 months
Retrieved from (http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001992/)
Cusack, Kayla
05/10/2011
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There is no treatment or cure for Down Syndrome, but rather early intervention to allow
the individual to live a fulfilling and healthy life. An individual with Down Syndrome
may require surgery for a gastrointestinal blockage or a heart defect and if the
person has any heart defects or problems, check with the physician about the
need for antibiotics to prevent heart infections called endocarditis (Retrieved from
(http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001992/)) Weight management is
also important for an individual with Down Syndrome. Making sure the individual is
taught the importance of an active lifestyle and healthy eating (ex. avoiding high calorie
foods). Early intervention includes various therapies such as: special education and
training, speech therapy, physical therapy, occupational therapy, and mental
health care or behavioural therapy (Retrieved from Retrieved from
(http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001992/)
Cusack, Kayla
05/10/2011
Page 7
Interesting Fact:
Down Syndrome is named after John Langdon Down, a
British doctor who first described the condition in 1866.
Retrieved from
(http://en.wikipedia.org/wiki/John_Langdon_Down)
Cusack, Kayla
05/10/2011
Page 8
Part Two
Discuss and Summarize the Circumstances in Which an Individual
Would be Considered Medically Fragile as a result of this condition.
There are various circumstances in which an individual would be considered medically
fragile as a result of Down Syndrome. There are many complications that are
characteristic of a specific condition for individuals with Down Syndrome, ranging from
mild to severe, these include:

Heart problems - congenital heart defects (more than 40% of Down Syndrome
babies) such as, atrial septal defect, ventricular septal defect, and endocardial
cushion defects

Hearing loss (may be a result of frequent ear infections)

Respiratory problems

Alzheimer’s Disease / Dementia

Childhood Leukemia

Thyroid conditions (Hypothyroidism)

Gastrointestinal problems (blockages)

Vision problems (ex. Cataracts)

Skeletal problems (weak back bones at top of neck, compression injury of spinal
cord)
Many of these conditions can cause early death and can be life-threating for an
individual with Down Syndrome. 30% – 50% of the individuals with Down syndrome
have heart defects and 8% – 12% have gastrointestinal tract abnormalities
present at birth. Most of these defects are now correctable by surgery. Retrieved
from (http://www.ndsccenter.org/?page_id=614)
Cusack, Kayla
05/10/2011
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All 4 of the following conditions would make an individual with Down Syndrome
medically fragile, some of the complications include:
1. Heart problems - congenital heart defects, such as atrial septal defect,
ventricular septal defect, endocardial cushion defects, and endocarditis.

Risks of Atrial septal defect - arrhythmias - atrial fibrillation (in adults), heart
failure, pulmonary over circulation, pulmonary hypertension, and stroke.

Risks of Ventricular septal defect -Heart failure, infective endocarditis (bacterial
infection of the heart), aortic insufficiency (leaking of the valve that separates the
left ventricle from the aorta), damage to the electrical conduction system of the
heart during surgery (causing arrhythmias), delayed growth and development
(failure to thrive in infancy), and pulmonary hypertension (high blood pressure in
the lungs) leading to failure of the right side of the heart.

Bacterial infection is the most common source of endocarditis. However, it can
also be caused by fungi. Risks of Endocarditis – arrhythmias such as atrial
fibrillation, blood clots or an infected clot that travels other organs, causing
infection and severe damage, brain abscess, brain or nervous system changes,
congestive heart failure, glomerulonephritis, jaundice, severe heart valve
damage, and stroke.
Retrieved from (http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001992/)
2. Gastrointestinal tract problems – blockages

Risks of Esophageal atresia – Feeding problems, reflux (the repeated bringing up
of food from the stomach) after surgery, narrowing (stricture) of the esophagus
due to scarring from surgery. Individual may breathe saliva and other fluids into
the lungs, causing aspiration pneumonia, choking, and possibly death.
Cusack, Kayla
05/10/2011
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
Risks of Duodenal atresia - Other birth defects, Dehydration; after surgery swelling of the first part of the small bowel (megaduodenum), problems with
movement through the intestines, and gastroesophageal reflux.
Retrieved from (http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001992/)
Childhood leukemia – an abnormal increase of white blood cells; there are 2
specific types of childhood leukemia: acute lymphocyticblastic leukemia (ALL)
and acute myelogenous leukemia (AML).

Risks - easy bruising or bleeding, bone or joint pain, swollen abdomen,
unexplained weight loss, frequent infections, anemia, paleness, night sweats,
enlarged lymph nodes, fatigue, weakness, flu-like symptoms, loss of appetite,
and stomach pain. If the leukemia has spread to the central nervous system
(CNS), risks may include: headache, vomiting, weakness of facial and eye
muscles, blurred vision, seizures, and difficulty keeping balance.
Retrieved from (http://info.cancer.ca/cce-ecc/default.aspx?Lang=E&toc=24)
3. Respiratory problems - as a result of a narrow throat, mouth, and airway; can
cause airway blockages and also sleep apnea (airways become blocked during
sleep; needs to be monitored).

Risks of Obstructive sleep apnea - high blood pressure (hypertension), ischemic
heart disease (poor blood flow to the heart), heart attack, heart failure, irregular
heart rate, pulmonary hypertension (elevation of blood pressure in blood vessels
of the lungs), and even death.
Retrieved from (http://www.medicinenet.com/sleep_apnea/article.htm)
Cusack, Kayla
05/10/2011
Page 11
From Definition of Medically Fragile - If an individual with Down Syndrome has any one
of these four conditions it can become life-threatening and the individual would live with
an ongoing threat to his or her continued well-being. These are serious and chronic
conditions that require medical devices and assistive technology to assist in their daily
life. Each may require hospitalization and daily ongoing medical treatments or
monitoring by trained health professionals, parents, and other family members. Each
condition may require surgery as well.
(Ref. ARD/IEP Supplement Form for Medically Fragile ARDSUPMF)
Cusack, Kayla
05/10/2011
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Conclusion:
In conclusion, Down Syndrome is a medical condition that can result in an individual
becoming medically fragile. This fact sheet provides information on Down Syndrome
and utilizes the class definition for medically fragile. This fact sheet has discussed and
summarized the circumstances under which an individual would be considered
medically fragile.
Cusack, Kayla
05/10/2011
Page 13
Sources:
PubMed Health - Down Syndrome. 2011. A.D.A.M. Medical Encyclopedia & National
Center for Biotechnology Information, U.S. National Library of Medicine. 28, September
2011
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001992/
Down Syndrome. 2011. National Down Syndrome Society. 28, September 2011
http://www.ndss.org/index.php
Down Syndrome. 2010. National Down Syndrome Congress. 28, September 2011
http://www.ndsccenter.org/
Down Syndrome. 2011. Canadian Down Syndrome Society. 01, October 2011
http://www.cdss.ca/
Down Syndrome. 2011. National Institute of Child Health and Human Development. 01,
October 2011 http://www.nichd.nih.gov/health/topics/down_syndrome.cfm
Down Syndrome and Nutrition.2005. The National Center on Physical Activity and
Disability. 21, November 2011
http://www.ncpad.org/nutrition/fact_sheet.php?sheet=197&section=1477
Sleep Apnea. 2011. MedicineNet, Inc. 21, November 2011
http://www.medicinenet.com/sleep_apnea/article.htm
Childhood Leukemia. 2011. Canadian Cancer Society. 21, November 2011
http://info.cancer.ca/cce-ecc/default.aspx?Lang=E&toc=24
Cusack, Kayla
05/10/2011
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Definition of Medically Fragile (class notes)
(Ref. ARD/IEP Supplement Form for Medically Fragile ARDSUPMF)
Links:
Article:
http://www.nytimes.com/2011/07/31/magazine/a-fathers-search-for-a-drug-for-downsyndrome.html?_r=2&pagewanted=1
http://www.time.com/time/magazine/article/0%2c9171%2c1129545%2c00.html?artId=1
129545?contType=article?chn=sciHealth
Video:
http://www.youtube.com/watch?v=ycrPCTP2mFE&feature=related
http://www.youtube.com/watch?v=bEVkbuooXo4&feature=related
Cusack, Kayla
05/10/2011
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Cusack, Kayla
05/10/2011
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