Page Length: 55

Size: 2162 KB

Format: PDF & Word

3,000.00

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 1
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.

DOWNLOAD COMPLETE WORK

DISCLAIMER: All project works, files and documents posted on this website, eProjectTopics.com are the property/copyright of their respective owners. They are for research reference/guidance purposes only and some of the works may be crowd-sourced. Please don’t submit someone’s work as your own to avoid plagiarism and its consequences. Use it as a reference/citation/guidance purpose only and not copy the work word for word (verbatim). The paper should be used as a guide or framework for your own paper. The contents of this paper should be able to help you in generating new ideas and thoughts for your own study. eProjectTopics.com is a repository of research works where works are uploaded for research guidance. Our aim of providing this work is to help you eradicate the stress of going from one school library to another in search of research materials. This is a legal service because all tertiary institutions permit their students to read previous works, projects, books, articles, journals or papers while developing their own works. This is where the need for literature review comes in. “What a good artist understands is that nothing comes from nowhere. The paid subscription on eProjectTopics.com is a means by which the website is maintained to support Open Education. If you see your work posted here by any means, and you want it to be removed/credited, please contact us with the web address link to the work. We will reply to and honour every request. Please notice it may take up to 24 – 48 hours to process your request.

WeCreativez WhatsApp Support
Administrator (Online)
Hello and welcome. I am online and ready to help you via WhatsApp chat. Let me know if you need my assistance.