ABSTRACT
This study was undertaken in order to gain an insight on the knowledge and attitudes
of the AUN community towards Down syndrome, further research was conducted
with number [3] families in both Adamawa and Rivers States in order to assess how
parents cope with the care of a child with Down syndrome. The research also tried to
ascertain the knowledge of these parents about the disorder before and after the birth
of their children. If they had more than one child with Down syndrome was also a
factor studied in the research. All three families involved in the study had male
children with Down syndrome. Their ages ranged from 6 to 10. Questionnaires with
close ended and open ended questions were used for the study carried out in the
AUN community. All parents involved were unaware of their child’s disorder before
birth and the mothers were in denial for a while. The research investigates how these
parents cope and how the children are being cared for.
Keywords: Down syndrome, coping, awareness, knowledge
.
v
Table of Contents
BRIEF INTRODUCTION …………………………………………………………………………………. 1
AIMS AND OBJECTIVES ………………………………………………………………………………… 1
1.0 DEFINITION OF DISABILITY …………………………………………………………………… 2
1.1 TYPES OF DISABILITIES ………………………………………………………………………….. 3
1.2 WHAT IS DOWN SYNDROME? …………………………………………………………………. 4
1.3 TRAITS AND CHARACTERISTICS COMMON TO DOWN SYNDROME …. 5
1.4 CAUSES OF DOWN SYNDROME ………………………………………………………………. 6
1.5 TYPES OF DOWN SYNDROME …………………………………………………………………. 7
1.6 RISK FACTORS ………………………………………………………………………………………… 12
1.7 COMPLICATIONS ASSOCIATED WITH DOWN SYNDROME ………………. 13
1.8 DISABILITY ACT ……………………………………………………………………………………… 18
2.1 RESEARCH METHODOLOGY ………………………………………………………………… 19
2.2 RESEARCH METHOD ……………………………………………………………………………… 19
2.3 STUDY AREA ……………………………………………………………………………………………. 19
2.4 TARGETED POPULATION AND DATA COLLECTION …………………………. 20
2.5 METHOD OF DATA ANALYSIS ………………………………………………………………. 20
RESULT ………………………………………………………………………………………………………….. 21
DATA ANALYSIS …………………………………………………………………………………………… 28
DISCUSSION ………………………………………………………………………………………………….. 36
CONCLUSION ………………………………………………………………………………………………… 44
APPENDIX ……………………………………………………………………………………………………… 45
REFERENCES ………………………………………………………………………………………………… 48
vi
LIST OF FIGURES
Figure 1: Physical Traits of Down syndrome. ……………………………………………………. 6
Figure 2: Inheritance of Familial Down syndrome ……………………………………………… 8
Figure 3: Karyotype of Down syndrome …………………………………………………………. 10
Figure 4: Risk of having a child with Down syndrome against age …………………….. 12
Figure 5: Percentage of Males and Females that participated (Excel) ………………….. 29
Figure 6 Relationship between gender and Knowledge of Down syndrome ………… 30
Figure 7 Relationship between Gender and willingness to share a meal or touch
someone with Down syndrome ………………………………………………………………………. 31
Figure 8 Relationship between gender and knowledge of inheritance of the disorder
…………………………………………………………………………………………………………………… 31
Figure 9 Relationship between Educational Status and Knowledge about Down
syndrome …………………………………………………………………………………………………….. 32
Figure 10 Educational Level against Knowledge of Inheritance Mechanisms ………. 32
Figure 11 Relationship between age of respondent and their knowledge about Down
syndrome …………………………………………………………………………………………………….. 33
LIST OF TABLES
Table 1: Disabilities, Types and Examples. …………………………………………………………….. 3
Table 2: Table showing the compilation of questionnaire outcome (SPSS analysis) …… 21
Table 3: Table showing the compilation of questionnaire outcome (SPSS analysis) …… 25
vii
LIST OF ABBREVIATIONS
SFSV Student, Faculty, Staff or Visitor
HYHADS Have you heard about Down syndrome
HDYHADS How did you hear about Down syndrome
Cntg Do you think it is Contagious
Contact Have you come in contact with a person with Down syndrome
SAMT Would you share a meal with someone with Down syndrome
CGTS Would you let your children go to school with someone with Down
syndrome
FFWD Friend or Family with Down syndrome
1
Chapter One
Brief Introduction
Down syndrome is a common genetic disorder; this research is geared towards
finding out how many people in the area of focus (American University of Nigeria,
Yola) know about the disorder and how much knowledge they have and it will also
in turn attempt to raise awareness about the disorder. The paper is aimed at
increasing the understanding of Down syndrome, its causes, how it is being
diagnosed, the traits common to the disorder and its risk factors. It will also discuss
the complications associated with Down syndrome, the life expectancy of people
with Down syndrome, treatment and prevention. Coping mechanics adopted by the
parents will also be discussed.
Aims and Objectives
To know how many people are aware of Down syndrome: This aspect of the
project will explore how many people are aware of the disorder and how they gained
awareness, through the media, articles, television, school or newspapers. This will
also study the knowledge and attitudes of people who know about Down syndrome
because of a family member or relative with Down syndrome.
To figure out how parents cope with the disorder: Many parents who have
children with trisomy 21, are prone to being stressed which can affect them both
emotionally and psychologically. This study will attempt to determine how they deal
2
with stress. This will also touch on the healthcare they provide for their child and if
they have a regular checkup dates scheduled with the doctor.
To know if parents have more than one kid with Down syndrome: This will try
to understand if mothers can give birth to another child with Down syndrome after
they have already had one.
1.0 Definition of Disability
A disability is a state or condition that is perceived to be considerably dysfunctional
with regards to the typical standard of an individual or a collection of individuals.
(Definition of Disabilities) The word disability is a canopy that encompasses,
impairments, activity restraint and constraint in involvement (Disabilities, 2015).
Impairments are often translated as the inability to do things as a result of being
physically or mentally unsound. Activity restraint is the trouble a person experiences
while trying to achieve a goal or an action and constraint in involvement is the
difficulty an individual encounters in life circumstances. There are various types of
disabilities, they include mobility and physical impairments, spinal cord disability,
head injuries – brain disability, vision disability, hearing disability, cognitive or
learning disabilities, psychological disorders and invisible disabilities (Definition of
Disabilities). Table 1.0 shows a list of disabilities, types and examples.
3
Table 4: Disabilities, Types and Examples.
Disabilities Types of Disabilities Example
Physical: The partial or
total loss of bodily
functions or a body part
Mobility and Physical
Impairment, Spinal Cord
Disability, Visual
Disability, Hearing
Disability
Stroke, Muscular
Dystrophy, Poliomyelitis,
Deformity of limbs,
Osteogensis Imperfecta
Mental/Psychological:
Anomalies that cause
inability to function
effectively in daily life
Head Injuries – Brain
Disability, Psychological
Disorders
Schizophrenia, Major
Depression, Bipolar
Disorder, Panic Disorder
Genetic/Congenital:
Disabilities that are
present before birth
Cognitive or Learning
Disabilities,
Down syndrome, Autism,
Fragile X syndrome,
Cystic Disease
The contents of the table have disabilities that overlap.
1.1 Types of Disabilities
There are different disabilities associated with Mobility and Physical
Impairment, they include upper and lower limb disability, manual dexterity and
disability in co-ordination with organs of the body. Spinal Cord Disability that is
caused mostly by accident but it can sometimes be a birth defect; There are two kinds
of spinal injuries: incomplete and compete injuries (Definition of Disabilities). Brain
disabilities consist of two major types: acquired and traumatic brain injury. They
both can range from mild to severe injuries; Acquired Brain Injuries happen after
birth and they occur in brains cells while Traumatic Brain Injury are commonly a
result of applied force to the head and also occurs after birth. (Brain Damage: Learn
About Trauma from Brain Injuries, 2015) Vision Disabilities are impairment that
cannot be rectified with the use of glasses or contact lens. Vision Disabilities range
from age-related macular degeneration (AMD) to glaucoma (Visual impairment ).
Hearing disability is an impairment that hinders an individual’s reception of sound
4
through the ear. There are three types of hearing impairment, they include
Conductive, Sensorineural and Auditory Processing Disorder. (Shemesh, 2010)
Cognitive or Learning Disabilities affects several mental tasks, examples include
dyslexia, autism, down syndrome and various others. Lastly, psychological disorders
also known as mental disorders are impairments that inhibits one’s ability to function
in daily activities. (Definition of Disabilities)
1.2 What is Down syndrome?
Down syndrome was first described by a late nineteenth century physician
named John Langdon Down (Asa, 2009). Though Down syndrome was easily
identifiable, especially by the physical features, John Down was the one who gave
Down syndrome a definitive description and a detailed and scientific definition. With
the developments in science, technology and medicine Down syndrome was
researched in-depth and it was identified and recognized as a chromosomal disorder
in 1959 by Jerome Lejeune, a French Physician.
Humans have 46 chromosomes each in pairs. Down syndrome is caused by
an extra chromosome 21; this adds up to a total of 47 chromosomes as opposed to the
normal 46 chromosomes. This is why the condition is also known as Trisomy 21. It
is one of the most common chromosomal disorders that is a cause of cognitive and
learning impairment and it does not have a cure. According to Alan H. Bittles 1 in
every 650-100 newborns is diagnosed with Down syndrome (Bittles, Bower,
Hussain, & Glasson, 2006).
5
1.3 Traits and Characteristics Common to Down syndrome
People born with this condition often have a distinctive phenotype. The traits
common to people with Down syndrome include, short neck, flat and round face,
relatively large tongue, eyes that slant upwards, small nose, poor muscle tone and
short fingers as seen in Figure 1.3. People with this condition are also likely to
develop other medical complications including but not restricted to heart defects,
leukemia, respiratory infections, ear infections, eye defects and hypothyroidism.
Most people with Down syndrome have an intelligence quotient (IQ) that falls
between ranges that are mildly to moderately low. They take more time to develop
compared to their peers; their intellectual disability makes it harder for them to speak
properly, learn quickly and take care of themselves. According to Diana Hernandez
(1996), people with this condition have an IQ that declines with an increase in age
and close to all of them develop Alzheimer when they get to 35 years (Hernandez &
Fisher, 1996)
6
1.4 Causes of Down syndrome
Down syndrome is caused by an error in cell division known as
nondisjunction. Nondisjunction occurs when homologous chromosomes are not
properly separated or correctly distributed during the formation of egg or sperm. This
causes the embryo to have three copies of chromosome 21, after the egg fuses with
the sperm. As the baby grows this third chromosome is copied into each cell. There
is an increase in the occurrence of nondisjunction in women with advanced ages;
women above the ages of 35 are more likely to have children with Down syndrome.
Down syndrome can also be caused by Robertsonian translocation (Down
Syndrome, 2015). Robertsonian translocation is a chromosomal rearrangement that
Figure 1: Physical Traits of Down syndrome.
7
occurs when two chromosomes join together. People with balanced translocation are
carriers, they lead a normal life; most carriers are not aware of their chromosomal
arrangement but can have children with Down syndrome. Unbalanced Robertsonian
translocation more often than not lead to chromosomal disorders like Down
syndrome, Patau Syndrome, Prader-Willi syndrome and Angelman syndrome. Down
syndrome caused by Robertsonian translocation is rare (Robertsonian Translocations
, 2005).
1.5 Types of Down syndrome
There are three types of Down syndrome, they include Trisomy 21 (Nondisjunction),
Translocation and Mosaic (Percy & Schrormans, 2005).
Trisomy 21: This is the most common type of Down syndrome accounting for 95%
of all cases. It is also known as nondisjunction. It occurs when a child has an extra
copy of chromosome 21 as opposed to the usual 2 copies. It is caused by errors in
cell division during the formation of the egg and sperm cell. These three
chromosomes are then replicated in all cells (Facts About Down Syndrome , 2014).
Mosaic: Mosaic pattern affect 2% of the people with Down syndrome. This happens
when nondisjunction does not occur in all of the initial cell division after
fertilization. This causes them to have a mixture of two kinds of cells, some having
the typical 46 chromosome and others having 47 chromosome (cells with extra
chromosome 21). When this happens, babies born have fewer typical traits of Down
syndrome as many have the correct number of 46 chromosomes (National Down
Syndrome Society ).
Translocation: This happens when part or all of the extra chromosome 21 is
attached to another chromosome and as the cells undergo division the chromosome it
8
gets attached to, is transmitted into other cells; this happens before or during
conception (Facts about Down Syndrome , 2014). The effect of translocation does
not necessarily change the effect of Down syndrome. This type of Down syndrome
can be hereditary, and usually the father or mother is a carrier of translocation but is
not aware because the symptoms are not apparent (Translocation Down Syndrome,
2013).
Figure 2: Inheritance of Familial Down syndrome
9
Diagnosis of Down syndrome
Two kinds of prenatal testing can be performed to know if a baby has Down
syndrome, they are the screening tests and diagnostic tests (Understanding a
Diagnosis of Down Syndrome, 2012). Screening tests are typically done for mothers
who are more likely to have a child with Down syndrome but are highly
recommended for mothers of all ages. Diagnosis from this kind of test is not 100%
accurate but is safe for the mother and baby. Diagnostic tests are more invasive,
somewhat unsafe for both mother and baby but overall more accurate for diagnosis
(Mayo Clinic, 2015).
Screening Tests: This comprises blood tests and sonograms, the blood test measures
the amount of different substances in the mother’s blood, this aids in knowing if the
mother has high or low chances of having a baby with Down syndrome and the
sonograms (ultrasound) take pictures of the baby that can be examined carefully.
Certain markers are looked for during sonograms like excess fluid behind a baby’s
neck, which often means a baby has a genetic disorder (Understanding a Diagnosis
of Down Syndrome, 2012). Screenings are not completely reliable because
sometimes, though rarely, the results indicates problem when there is no problem and
other times it gives a normal result when indeed there is a problem. A new type of
screening is now available that checks the mother’s blood for chromosomal materials
(DNA) from the fetus.
Diagnostic Tests: These kinds of tests are more invasive and poses a greater risk to
the fetus because it involves extracting samples surrounding the developing fetus that
can lead to spontaneous termination. It is typically done after screening tests that are
uncertain or positive to confirm that the child has Down syndrome. The types of
10
Diagnostic tests carried out include: amniocentesis, which involves taking samples of
the amniotic fluid and examining it for an extra chromosome. It is done in the second
trimester 14-18weeks into the pregnancy. Chorionic villus sampling (CVS) is a test
that is carried out within the 9th to 11th week of pregnancy (Mayo Clinic, 2015), it
involves the extraction and examination of the genetic material from the placenta (an
organ that attaches/connects the fetus to the mother). Lastly, percutaneous umbilical
blood sampling (PUBS) examines extracted blood from the umbilical cord through
the uterus, out of all three diagnostic tests it is regarded as the most precise but it
cannot be performed until the 18th to 22nd week of pregnancy.
Figure 3: Karyotype of Down syndrome
11
Diagnosis can also be carried out after birth by examining the baby using the
traits common to people with Down syndrome. Since this method is not 100%
effective as a baby without Down syndrome can possess some of these qualities and
a baby with Down syndrome might not have the obvious traits, a blood test is usually
carried out. A sample of the baby’s blood is usually taken for chromosomal analysis
known a Karyotype (Figure 1.5). A special equipment is used to take pictures of the
chromosome and then these chromosomes are arranged and grouped according to
number, size and shape; when this is done the karyotype will tell accurately if the
baby has Down syndrome (Understanding a Diagnosis of Down Syndrome, 2012).
This tests are critical and important as they ready parents mentally and
psychologically and also aid them in taking care of the baby. Babies with Down
syndrome require extra care and their quality of life can be better if it is detected on
time and their health need met.
12
1.6 Risk Factors
Studies have shown that mothers over the age of 35 are likely to have
children with Down syndrome but mothers under the age of 30 account for 75% of
the mothers that have children with Down syndrome. As the mothers age increases
the chances of her having a child with the disorder increase significantly this is
because the older the woman’s eggs the higher the probability of correct
chromosomal division (Malini & Ramachandra, 2007).
People with a child that has Down syndrome have higher risk of having
another child with Down syndrome. Also parents that are translocation carrier are
more likely to have a child with Down syndrome and women with this genetic
disorder have a 50% chance of having a child with the same disorder (WebMD,
2013).
Figure 4: Risk of having a child with Down syndrome against age
13
1.7 Complications associated with Down syndrome
There are several complications associated with Down syndrome, they
include attention deficit hyperactivity (ADHD), Alzheimer’s, ear, nose and throat
issues, Endocrine conditions, heart condition, mental health issues, sleep apnea and
vision impairment. Children with Down syndrome are more vulnerable to viral and
bacterial infections because their T lymphocytes are lower than normal (Murphy,
Esptein, & Lempert, 1990).
Attention Deficit Hyperactivity Disorder (ADHD): Is a disorder that is commonly
diagnosed at childhood, it sometime transcends into adolescence and adulthood.
Some of the traits common to attention deficit hyperactivity disorder includes a
decline in attention span, hyperactivity as the name suggests and impulsive behavior
(Insel, 2010). Many children exhibit these traits but children with Down syndrome
are more likely to display these traits than her/his peers.
Alzheimer’s disease: It is a neurological disorder that is considered a type of
dementia. It involves the death of brain cells that in turn leads to loss of memory and
other problems in thinking and behavior (MacGill, 2015). People with Down
syndrome around 65years and above are 75 percent more likely to have Down
syndrome. Alzheimer’s shares a genetic connection with Down syndrome that leads
to greater risk of dementia at a young age (Alzheimer’s Disease & Down Syndrome,
2012). Alzheimer’s that occur before the age of 65 is known as younger-onset
Alzheimer’s. On average the life expectancy of people with Down syndrome is
between 55 and 60 years, this explain why they are more probable to have youngeronset
Alzheimer’s than older onset Alzheimer’s disease that typically develops at in
people that are 65years or older (Alzheimer’s Association , 2015).
14
Ear, nose and throat issues (ENT): As the name implies, ENT are the problem that
are commonly associated with the ear nose and throat. Some of the ear, nose and
throat problems that are considered typical include, sleep apnea, sore throat, hearing
loss, nosebleeds, tonsils and adenoid problems (Common ENT Problems , 2015).
40-50 percent of children with Down syndrome have stenotic ear canals, this makes
it hard for their middle ear and ear drum to be examined. The mildest loss in a child’s
hearing can make it hard for the child to articulate and learn. This is why it is advised
that children with Down syndrome have an otolaryngologist (specialist in ear nose
and throat infection). An otolaryngologist plays a vital role in the health of people
with Down syndrome. The facial anatomy of people with trisomy 21 makes increases
their chances of inflammation of the sinus (sinusitis) and chronic rhinitis. These
inflammations can be treated with the use of prescribed nasal spray and the problems
usually improve and are easily managed as they grow older. Speech delay and
disorders are common with people with Down syndrome, this is why their voice may
sound brusque or harsh.
Endocrine Conditions: The incidence of endocrine conditions are higher in people
with Down syndrome. Glands that secrete hormones that control growth,
metabolism, tissue function and other bodily functions they include the pituitary,
thyroid and adrenal glands. The endocrine condition particularly common to those
with Down syndrome is hypothyroidism. Hypothyroidism is a result of a
malfunctioning thyroid gland, this condition occurs when the thyroid gland does not
secrete sufficient thyroid hormones. The thyroid glands controls metabolism, it
controls how fast the body spends energy and produces protein (Badiu, Verzea, &
Picu, 2010). For children with Down syndrome hypothyroidism is a common
15
endocrine condition. Studies have shown that 10% of kids with Down syndrome
have either acquired thyroid disease or congenital thyroid disease. Hypothyroidism is
easily treated by replacing thyroxin through the use of medication. Symptoms of
hypothyroidism includes confusion, poor circulation, constipation, weight fluctuation
and mental sluggishness. This is why some of the people with Down syndrome are
weight more than they should when compared to their age.
Heart Condition: This is the most common health condition related to Down
syndrome. In fact half of the children born with Down syndrome have congenital
heart diseases. Atrioventricular Septal Defect is one of the heart defect common to
down syndrome, when the tissue in the heart does not come together during the fetus
embryonic stage atrioventricular septal defect occurs. This leads to a hole in the
middle of the heart; this in turn can cause Atrial Septal Defect and Ventricular Septal
defects. Persistent Ductus Arteriosus is another common defect in children with
Down syndrome, it occurs when blood flows into the lungs because the ductus
arteriosus (channel between the aorta and pulmonary artery) does not close after the
child is born. It is recommended that children born with Down syndrome should
have an echocardiogram. An echocardiogram is a test that is done with a device that
records that echoes of sound waves that bounces of the heart. An echocardiogram
creates pictures of the heart with the use of the high-pitched sound waves generated
by the heart. The echocardiogram should be done within the first two months of a
child life whether or not the child shows symptoms of heart disease. The process is
safe because it does not expose the child to radiation (Ruben, Magana, Hach , &
Jimenez, 2003). Symptoms of heart defects includes a child’s difficulty in breathing
16
and heart failure. Children diagnosed with heart defects are required to undergo heart
surgery that is done before the child is five months to reduce the risk of lung damage.
Mental Health Issues: There are several mental health conditions that occur with
Down syndrome. Adults with Down syndrome are most vulnerable to mental health
issues. The most common mental illness include obsessive compulsive disorders,
depression, impulsive behaviors, psychosis and anxiety.
• Obsessive disorder: This is sometimes beneficial because people with Down
syndrome often follow a strict routine, this helps them with things like their
jobs, taking care of their belongings and waking up on time to take a
particular bus to school and back. Other times the obsessive disorder can be a
problem, an example is when they rearrange stacks of books, or count the
number of soaps in the bathroom before they shower or stick to a very strict
routine that cannot be altered even if it is at the expense of other activities.
Symptoms of this often includes restlessness, this restlessness sometimes
leads the person with Down syndrome to act in a particular manner that might
be considered inflexible and rigid. Another symptom includes engaging
ritualistic acts and repetitive behaviors and example is wiping the table
thoroughly for a certain amount of time before eating. Sometime when they
are anger or scared the repeat a routine that is obsessive and they are “stuck”
in this routine until they are calm or fall asleep. Obsessive Compulsive
Disorders can be treated by the use of serotonin reuptake inhibitors and the
used of behavioral therapy
• Depression: Is medical illness that leads to low mood and loss of interest in
usual activities. Depression can last for day, weeks, months and even years.
17
Symptoms of depression often include weight loss or weight gain, difficulty
in sleeping for long or oversleep, negative thoughts, loss of interest in
interacting or communicating with others, lowered concentration and selfneglect.
For people with Down syndrome the depression is usually
associated with triggers from the environment. The common stressors are
death of a pet, a sibling moving out of the house or sudden absence of
caregiver. These kinds of event may seem normal to typical people but for
those with Down syndrome it is considered an extraordinary effect and it
leads to depression. People with Down syndrome are extra sensitive to
change and it is often advised that when known changes that may have a
negative effect is about to occur a therapist or counselor is around to help
them cope. Treatment of depression includes the use of antidepressant and a
therapist. Severe depression is not common to people with Down syndrome
however when it does occur doctors often recommend the use of
electroconvulsive therapy (ECT). Electroconvulsive therapy has laws
governing its use; it is usually done under general anesthetic and muscle
relaxant and some adults with severe Down syndrome have been successfully
treated with the use of electroconvulsive therapy (Jennifer, 2008).
• Psychosis: This is another mental health condition associated with Down
syndrome. Psychosis is a psychiatric problem that occurs and results in
people thinking and perceiving things in a different way from others around
them. Their emotions and interpretation of things are impaired. Symptoms of
psychosis includes hallucinations and delusions (Maatta, Taanila, & Kaski,
2006).
18
1.8 Disability Act
The Disability Act is aimed at stopping discrimination against people with
disabilities. It is aimed at giving the disabled rights to be employed, acquire standard
education and giving the disabled access to services and goods (The Disability
Discrimination Act (DDA), 2014). Many countries have adopted this act, they
include America, Australia, Hong Kong, Canada, United Kingdom and South Africa
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