Download RAJIV GANDHI UNIVERSITY OF HEALTH SCIENCES

RAJIV GANDHI UNIVERSITY OF HEALTH SCIENCES
BANGALORE, KARNATAKA
Proforma for registration of subject for dissertation
1. Name of the candidate and address :
Binsu Varghese
I year M.Sc. Nursing
Mallige Institute of Nursing
Sector-II, HMT Post, Bangalore-13
2. Name of the Institution
:
Mallige Institute of Nursing
Sector-II, HMT Post, Bangalore-13
3. Course of Study and Subject
:
I year M.Sc. Nursing
Child Health Nursing
4. Date of Admission to Course
:
31.05.10
5. Title of the Topic
:
“A Comparative Study To Assess The Knowledge
Regarding Genetic Disorders Among Staff Nurses
And Nursing Students At Selected Hospital And
Nursing College, Bangalore, With A View To
Develop Information Booklet”.
1
6. BRIEF RESUME OF THE INTENDED STUDY
6.1. NEED FOR THE STUDY
Each organism which the Creator educed was stamped with an indelible specific character, which made it what it
was, and distinguished it from everything else, however near or like. - Philip Henry Gosse
Each person has a unique set of chemical blueprints that determines how his or her body looks and functions.
These blueprints are contained in a complex chemical called deoxyribonucleic acid (DNA) which carries the
codes for genetic information. A gene is the unit of heredity which normally resides on a stretch of DNA. Every
person has from 25,000 to 35,000 different genes Some characteristics come from a single gene, whereas others
come from gene combinations.[1]
Heredity is the passing of genes from one generation to the next. You inherit your parents' genes.
Genetic disorders are illnesses caused by abnormalities of the genes or chromosomes and can be traced to an
individual's heredity. On average, people probably carry from five to ten variant or disease genes in their cells.
Problems arise when the disease gene is dominant or when the same recessive disease gene is present on both
chromosomes in a pair. Problems can also occur when several variant genes interact with each other or with the
environment to increase susceptibility to diseases. [1]
According to an article [1998], birth defects include inherited genetic disorders and non-genetic
(congenital or structural) abnormalities. They range from minor physical problems (postminimus polydactyly) to
very serious, chronic and life-threatening, disabling conditions (Fetal Alcohol syndrome). Some birth defects are
visible at birth (e.g. neural tube defects, albinism and Down syndrome) while others have late onset. [2]
Baird P A et al [1988] in a study found that, before approximately age 25 years, greater than or equal
to 53/1,000 live-born individuals can be expected to have genetic disorders. This total was composed of singlegene disorders (3.6/1,000), consisting of autosomal dominant (1.4/1,000), autosomal recessive (1.7/1,000), and Xlinked recessive disorders (0.5/1,000). Chromosomal anomalies accounted for 1.8/1,000, multifactorial disorders
accounted for 46.4/1,000 and cases of genetic etiology in which the precise mechanism was not identified which
accounted for 1.2/1,000.[3]
A study conducted by Anupam K.et al [2010] revealed that globally, at least 7.6 million children are
born annually with severe genetic or congenital malformations; 90% of these are born in mid and low income
countries. Precise prevalence data are difficult to collect, especially in developing countries, owing to great
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diversity of conditions and also because many cases remain undiagnosed. It has been estimated that the
cumulative incidence of significant birth defects and genetic disorders reaches 8% by the age of 5 years. [4]
According to Verma I.C. [2001] India, like other developing countries, is facing an accelerating
demographic switch to non-communicable diseases. Due to the high birth rate in India a very large number of
infants with genetic disorders are born every year. In a multi-centric study on the causes of referral for genetic
counselling the top four disorders were, repeated abortions, identifiable syndromes, chromosomal disorders and
mental retardation.[5]
Rama Devi A R [1987] a study conducted on 407 infants and children in Karnataka indicated a total
of 35 genetic diseases diagnosed in 63 persons: 44 with single gene defects, 12 with polygenic disorders, and
seven with Down syndrome.[6]
Down syndrome is a chromosomal disorder, caused due to the presence of all or part of an extra 21st
chromosome. It is characterized by certain amount of impairment in the cognitive ability and physical growth of
an individual. Down syndrome is seen in approximately 1 per 800 to 1 per 1000 births. However, it is more
commonly seen in children that are born to older mothers. [7]
Cystic Fibrosis is a genetic disease that affects the lungs, pancreas, and reproductive organs, causing
infections, diabetes, inability to digest food properly, infertility and decreased life expectancy. It affects thirty
thousand Americans and survival is now possible over thirty three years old due to improved therapies and
transplant services.[8] Kabra S. et al [2007] suggested that cystic fibrosis occurs in India but its precise magnitude
is not known. Cystic Fibrosis in Indian children is usually diagnosed late and in advanced stage. Children are
more malnourished and may have clinically evident deficiency of fat soluble vitamins. [9]
Phenylketonuria is a genetic disorder caused due to the deficiency of a hepatic enzyme that converts
phenylalanine into tyrosine. If this hepatic enzyme is not present in the blood, the level of phenylalanine rises.
Phenylalanine then gets converted into phenylketone. Elevated levels of phenylketone can cause damage to the
central nervous system and the brain; therefore, this condition must be detected soon. Newborns are screened for
this disease through a PKU blood test. [10]
Madan N [2010] estimates of newborns with homozygous β-thalassemia in India vary considerably
from six thousand to seven thousand five hundred per year and even more depending on the gene prevalence,
population and birth rate of the region. An average frequency of beta-thalassemia trait (βTT) of 3.3% is stated for
India. The lowest prevalence of βTT was observed in school children from Rajasthan and Maharashtra. [11]
3
An article by the WHO [2005] has revealed that the higher prevalence of genetic diseases in a
community may be due to some social or cultural factors and the factors include tradition of consanguineous
marriage, which results in a higher rate of autosomal recessive conditions including congenital malformations,
stillbirths or mental retardation. Maternal age greater than thirty five years is associated with higher frequencies
of chromosomal abnormalities in the offspring. The genetic and congenital disorder is the second most common
cause of infant and childhood mortality and occurs with a prevalence of 25-60 per 1000 births. [12]
Shubha R. [2004] states that clinical management of diseases is in the form of genetic counseling,
carrier detection, presymptomatic and prenatal diagnosis. As most of the genetic diseases present early in life, it is
of utmost importance for pediatric nurses to realize the importance of the management of children with genetic
disorders. [13]
Mesick M, Anderson L. [2000] states that genetic advancements are creating new challenges not only
for nursing practice, but also for educational curricula. Pediatric nurses with adequate educational preparation in
genetics now have an exciting opportunity to develop new skills and roles and make a significant contribution to
genetic services and the advancement of nursing knowledge of children. [14]
Baars MJ, et al [2005] conducted a study to estimate the deficiency of knowledge of genetics and
genetic tests among general practitioners, gynecologists, pediatricians and nurses: a global problem. The overall
knowledge levels of genetics in many non geneticist health care providers show clear deficiencies. This is in line
with reports from different countries, showing that these deficiencies are a global problem. [15]
According to a study conducted by Kiray V.B.et al [2009] majority of students reported very little
knowledge of genetics and genetic disorders. Most of students responded positively to all the education methods
suggested in the questionnaire, adding that they would like more education about genetics. [16]
In spite of the recognition of the importance of using genetic principles in nursing practice, authors
consistently reported that nurses' abilities to participate in case-finding and education regarding genetic disorders
was limited by gaps in education on genetic topics. Keeping this in view, the researcher justifies the need to assess
the knowledge regarding genetic disorders among staff nurses and nursing students, to compare their knowledge
scores to assess the effectiveness of genetics in nursing education curricula and to develop an information booklet
after finding the knowledge deficit areas based on the structured questionnaire. “Our role as nurses could be great
if well informed. Similarly our role could be devastating if not.”
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6.2. REVIEW OF LITERATURE
Review of literature is the summary of current theoretical and empirical resources to
generate a picture of what is known and not known about a particular problem.[17]
Anupam Kaur et al [2010] carried out a study in three centers (Mumbai, Delhi and Baroda) on
94,610 newborns by using a uniform proforma showed a malformation frequency of 2.03%, the commonest
malformations are neural tube defects and musculo-skeletal disorders. The frequency of Down syndrome among
94,610 births was 0.87 per 1000, or 1 per 1150. Screening of 112,269 newborns for amino acid disorders showed
four disorders to be the commonest--tyrosinemia, maple syrup urine disease and phenylketonuria. It is estimated
that beta- thalassemia has a frequency at birth of 1:2700, which means that about 9,000 cases of thalassemia
major are born every year. [4]
Madan N. [2010] reported that the overall gene frequency of β-Thalassemia Trait in Mumbai and
Delhi was 4.05% being 2.68% and 5.47% in children of the two cities respectively. When analyzed state-wise, the
highest incidence was observed in children of Punjabi origin (7.6%) and was >4% from several other states. [11]
Bilgin Kıray Vural et al [2009] study to assess nursing students’ self-reported knowledge of genetics
and genetic education is a self-administered cross-sectional survey. A total of 162 of 209 nursing students returned
a questionnaire and the study concluded that majority of students noted ‘some’ to ‘minimal’ knowledge of
Mendelian inheritance and human chromosome abnormalities. In terms of awareness of genetic abnormalities and
disorders, students claimed to have ‘high’ knowledge of breast cancer, phenylketonuria, thalassemia, colon
cancer, Rh factor, cleft lip/palate, hemophilia, color blindness, and polydactyly. Students stated that they would
like to receive more education related to genetic diseases and genetic counseling (93.9%). [16]
Jailkhani R, Patil [2008] in a study reported that a large number of inborn errors of metabolism
(IEM) in children remain undetected in India due to lack of investigative facilities and economic restraints. In the
study about 50 children presenting with neurological and metabolic problems were screened at a tertiary level
teaching hospital in Karnataka for inborn errors of metabolism using a standard protocol. There was male
preponderance of cases (75%). The commonest clinical presentation was convulsions (30%) followed by
metabolic acidosis (15%). 15% of the cases showed history of sibling deaths. [18]
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Irving C. et al [2008] conducted a retrospective review made of prospectively collected data on all
cases of Down syndrome and concluded that Down syndrome affected 1.72 per 1000 total births. The proportion
increased over twenty years from 1.3 to 2.5 per 1000 total births. Mothers delivering at 35 years of age or above
had an increased incidence of having a child with Down syndrome from 6 to 15%. [19]
Demirhan H, Akdag B [2007] conducted a study to assess the educational needs of nurses relating to
genetics and genetic counseling in the Denizli region of Turkey. Data were collected by questionnaire about nurse'
approaches to genetics and genetic counseling. A total of 60 (60.0%) of 100 physicians working in Denizli
province returned a questionnaire. Nurses described "their most knowledgeable subjects" in basic genetic
information as chromosome abnormalities (41.8%) and in genetic counseling as directing the parents of and
couples with a risk for having a child affected by a genetic disease to an expert or a genetic counseling center
(94.8%). Only 20.7% knew the ethical regulations and techniques related to genetic counseling. Nurses thought
that they did not have sufficient knowledge about genetics or genetic counseling, and 83.9% would like to attend
an educational course. [20]
Tomatir A.G. et al[2006] in the study to assess nurses' professed knowledge of genetics and genetic
counseling aimed to measure the current status of primary care nurses' knowledge about genetics and genetic
counseling, and the educational needs of nurses related to human genetics in the Denizli region of Turkey. A total
of 86 of 106 nurses working in Denizli province returned the questionnaire (response rate of 81.1%).
Phenylketonurias, at 61.5%, and Cooley’s anemia, at 60.0%, were identified as the subjects these nurses were
most knowledgeable about in terms of genetic disorders. A high percentage of nurses admitted they had
insufficient knowledge about the genetic basis of diseases (96.4%), inheritance patterns (98.9%), ethical and legal
issues (100.0%), genetic counseling (100.0%), gene testing (95.9%), and genetic engineering (97.9%). About 67%
of nurses stated they would like to attend a training course on these subjects. As a result of this study a genetics
course is planned for nurses so they can actively participate in the prevention and early diagnosis of genetic
diseases. [21]
M Mei-Zahav [2005] conducted a study to estimate the prevalence of Cystic Fibrosis in the South
Asian and in the general population living in the same geographic region (Metropolitan Toronto) were compared
between 1996 and 2001. Among 381 patients with CF, 15 were of South Asian descent. The age related
prevalence of Cystic Fibrosis among the South Asian and general populations was: 0–14 years, 1:9200 versus
1:6600; 15–24 years, 1:13 200 versus 1:7600; older than 25 years, 1:56 600 versus 1:12 400. Age at diagnosis,
duration and severity of symptoms at diagnosis, current nutritional status, were similar in the two groups. [22]
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Verma I.C., S. Bijarnia [2002] conducted a study which revealed that consanguineous couples and
their offspring account for approximately 10% of the global population. The increased risk for congenital/genetic
disorders is most marked for autosomal recessive disorders and depends on the degree of relatedness of the
parents. For children of first cousins the increased risk is 2-4%. For individual couples, however, the extra risk
can vary from zero to 25% or higher, with only a minority of these couples having an increased risk of at least
25%. Study also found an estimate of 495,000 infants with congenital malformations, 390,000 with G6PD
deficiency, 21,400 with Down syndrome, 9,000 with β-thalassaemia, 5,200 with sickle cell disease, and 9,760
with amino acid disorders born each year. Due to inadequate diagnostic, management and rehabilitation facilities
in India, the burden of these disorders is greater than in Western countries. Community control of common
disorders like thalassaemia, Down syndrome, neural tube defects, and muscular dystrophies deserves high
priority, and genetic services should be integrated into the existing primary health care and medical services. [23]
Cohen F.L. [1979] conducted a study to assess the genetic knowledge possessed by American nurses
and nursing students. A questionnaire was used to examine the overall adequacy and specific knowledge in the
more commonly encountered genetic disorders such as sickle cell disease, Rh disease and Down syndrome. It also
included interpretation of risk and basic knowledge. The sample consisted of 366 senior nursing students and 114
practicing nurses. Only 19 (4.2%) respondents demonstrated over-all adequate knowledge. These results indicate
a need to raise the consciousness and knowledge of nurses about human genetic disorders before serious
repercussions result from inappropriate and inadequate counselling, health teaching and referrals. [24]
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6.3. OBJECTIVES OF THE STUDY

Assess the knowledge of staff nurses regarding genetic disorders

Assess the knowledge of nursing students regarding genetic disorders

Compare the knowledge scores of staff nurses and nursing students regarding genetic disorders

Correlate the knowledge scores of staff nurses and nursing students regarding genetic disorders with
selected socio demographic variables

Develop an information booklet regarding genetic disorders based on the knowledge scores
6.4. ASSUMPTIONS
Nursing students may have more knowledge than staff nurses regarding genetic disorders
6.5. OPERATIONAL DEFINITIONS
Assess
To estimate the knowledge among staff nurses and nursing students regarding genetic disorders
Knowledge
The information that the staff nurses and nursing students have regarding genetic disorders as
evidenced by the number of correct responses to the items in the structured questionnaire
Genetic disorders
Any disorder seen in children, which they inherit from their parents or significant relatives. In this
study it refers to genetic disorders like Down syndrome, beta-Thalassemia, Phenylketonuria, and Cystic fibrosis.
Staff nurse
Refers to an individual who has a qualified degree/ diploma in nursing and is presently working in
any hospital
Nursing students
Refers to an individual doing his/her fourth year Baccalaureate of Science in nursing
Information booklet
Refers to written material which will provide information on genetic disorders with necessary
pictures which are self explanatory
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7. MATERIAL AND METHODS.
7.1. SOURCES OF DATA
Data will be collected from the staff nurses and nursing students at selected hospital and college,
Bangalore.
7.2. METHOD OF COLLECTING DATA:
7.2.1.
Inclusion and Exclusion criteria
Inclusion criteria

Staff nurses and students who are willing to participate in the study

Staff nurses and students who are available at the time of data collection

Staff nurses working in pediatric unit at selected hospital

Students who are in their final year B.Sc(N) at selected college
Exclusion criteria

Staff nurses and students who are not willing to participate in the study

Staff nurses and students who are not available at the time of data collection
7.2.2. Research design
Non-experimental Descriptive - comparative design
7.2.3. Setting
Selected hospital and college, Bangalore
7.2.4. Sampling technique
Convenient sampling technique
7.2.5. Sample size
30 staff nurses and 30 nursing students
7.2.6. Tool of research
Structured questionnaire will be given to the staff nurses and nursing students to assess their
knowledge regarding genetic disorders.
7.2.7. Collection of data
The researcher collects the data from the staff nurses and nursing students. Sample will be selected
based on inclusion and exclusion criteria. Structured questionnaire (self administered) regarding genetic disorders
will be given to the sample. Comparison of the knowledge scores of the staff nurses and nursing students will be
done and an information booklet will be developed based on the knowledge scores.
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7.2.8.
Method of data analysis and presentation
Descriptive and inferential statistics are used.
Descriptive statistics: the researcher will use descriptive statistical techniques like mean, mode, percentile and
standard deviation for data analysis. The analyzed data will be presented in the form of table, diagram and graphs
based on the findings.
Inferential statistics: test of significance such as t-test and chi square will be used depending on the result
obtained.
7.3 Does the study require any investigations or interventions to be conducted on patient or other
human beings or animals? If so, please describe briefly?
The study requires no investigations or interventions to be conducted on patients or other human
beings or animals. This study includes evaluating the knowledge of staff nurses and nursing students and
providing information booklet.
7.4
Has ethical clearance been obtained from your institution in case of 7.3?
Administrative permission and ethical clearance with regard to the study will be obtained from
institution and samples prior to conducting the study.
10
8. BIBLIOGRAPHY
1. www.education.com/ all about_ genes/html
2. Christianson AL, Gerick GS, Venter PA, du Toit JL. Human genetics policy guidelines for the
management and prevention of genetic disorders, birth defects and disabilities, S Afr Med J 1998:85, 2-3.
3. P A Baird, T W Anderson, H B Newcomb, R B Lowry. Genetic disorders in children and young adults: a
population study. Am J Hum Genet. 1988 May: 42(5): 677–693
4. Anupam Kaur and Jai Rup Singh, Chromosomal Abnormalities: Genetic Disease Burden in India Int J
Hum Genet, (2010): 10(1-3): 1-14
5. Verma I.C. Burden of genetic disorders in India. Indian J Pediatric 2001 Jan: 68(1):25.
6. A R Devi, N A Rao, A H Bittles, Inbreeding and the incidence of childhood genetic disorders in
Karnataka, South India J. Med. Genet. 1987; 24; 362-365
7. Sumaiya
Khan.
Common
Birth
Defects.
2010
available
at
URL:
http://www.buzzle.com/articles/common-birth-defects.html
8. Medical News Today. Prevention of osteoporosis in cystic fibrosis July 2005 available at URL:
http://www.medicalnewstoday.com/medicalnews.php?newsid
9. Kabra, S., Kabra, M., Lodha, R. and Shastri, S. Cystic fibrosis in India. Pediatric Pulmonology. 2007L:
42:1087–1094.
10. Smita Pandit. Phenylketonuria test. 2010. available at URL: http://www.buzzle.com/articles/pku-
test.html
11. Madan N, Sharma S, Sood SK, Colah R, Bhatia HM. Frequency of β-thalassemia trait and other
hemoglobinopathies in northern and western India. Indian J Hum Genet 2010:16:16-25
12. Genomics and world health: report of the Advisory Committee on Health Research. Geneva, World
Health Organization, 2005.
11
13.
Shubha R. Phadke Genetic Counseling Indian Journal of Pediatrics, Volume 71--February, 2004-151-56
14. Lessick M, Anderson L.Genetic discoveries: challenges for nurses who care for children and their
families; J Soc Pediatr Nurs. 2000 Jan-Mar; 5(1):47-51.
15. Baars MJ, Henneman L, Ten Kate LP.,Deficiency of knowledge of genetics and genetic tests among
general practitioners, gynecologists, and pediatricians: a global problem. Genet Med. 2005 Nov-Dec;
7(9):605-10.
16. KirayVural B., TomatirA.G, KuzuKurbanN, and TaspinarA, Nursing students' self-reported knowledge of
genetics and genetic education, public health genomics: 2009; 12(4):225-32
17. Burns Nancy & Grove Susan. Nursing Research. 4th Edition. Elsevier Publishers.2002.
18. Jailkhani R, Patil., Laxman HB, Shivashankara AR, Kulkarni SP,Ravindra MS., Selective screening for
inborn errors of metabolism in children: single centre experience from Karnataka . Journal of Clinical and
Diagnostic Research 2008 August; 2:952-958.
19. Irving C, Basu A, Richmond S, Burn J, Wren C. Twenty-year trends in prevalence and survival of Down
syndrome. Eur J Hum Genet. 2008
20. Tomatir AG, Sorkun HC, Demirhan H, Akdağ B Genetics and genetic counseling: practices and opinions
of primary care physicians in Turkey. Genet Med. 2007 Feb; 9(2):130-5.
21. Tomatir AG, Sorkun HC, Demirhan H, Akdag B. Nurses' professed knowledge of genetics and genetic
counseling, Tohoku J Exp Med. 2006 Dec;210(4):321-32.
22. M Mei-Zahav, P Durie, J Zielenski, M Solomon, E Tullis, L Tsui, and M Corey The prevalence and
clinical characteristics of cystic fibrosis in South Asian Canadian immigrants Arch Dis Child. 2005
July; 90(7): 675–679.
23. Verma I.C., S. Bijarnia The Burden of Genetic Disorders in India and a Framework for Community
Control, Community Genet 2002; 5:192-196
24. Cohen FL. Genetic knowledge possessed by American nurses and nursing students. J Adv Nurs. 1979
Sep; 4(5):493-501.
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9. Signature of the candidate
:
10. Remarks of the guide
: The latest trend is that nurses think genetically.
Hence this descriptive study is appropriate as it
attempts to compare the knowledge of staff nurses and
nursing students regarding genetic disorders.
11. Name and Designation of
11.1. Guide
:
: Mrs.Mariam Jaisy. G,
Asst. Professor,
Mallige Institute of Nursing,
Sector-II, H.M.T.Post, Bangalore- 13.
11.2 Signature
:
11.3 Co-Guide
: Mrs.Padmavathi.S
Asso. Professor & Principal,
Mallige Institute of Nursing,
Sector- II, H.M.T.Post, Bangalore- 13.
11.4 Signature
:
11.5 Head of the Department
: Mrs.Mariam Jaisy. G,
Asst. Professor,
Mallige Institute of Nursing,
Sector-II, H.M.T.Post, Bangalore- 13.
11.6 Signature
12. Remarks of the Chairman/Principal
12.1 Signature
:
:
:
13