Prevalence and Effects of Down Syndrome in Arab Countries
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This article discusses the prevalence and effects of Down Syndrome in Arab countries, including risk factors, causes, and attitudes towards the disorder. It also covers the physical and mental effects of the disorder, as well as treatment options.
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DOWN SYNDROME
DOWN SYNDROME
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Abstract
Down syndrome, also known as ‘trisomy 21’ is a most common genetic problem happens before
birth. One out of every 800 births are affected by this chromosomal anomaly. The abnormal
count of chromosomes in the cell is the genetic reason of down syndrome. Incorrect number of
chromosomes in the cell is generally associated with the errors in chromosome distribution
between the dividing cells during egg formation. Down syndrome affects the development of the
body and brain. One can see a huge variation in mental abilities, behavior and the physical
development of an individual with down syndrome. The range of intellectual disability may also
vary from mild to severe. Symptoms of this disorder are easily recognizable such as the eye
corners started displaying oblique eye fissures, having a flat nasal bridge, short neck and small
head, short and low set ears, broad feet with short toes etc. The physical and mental development
of the people with down syndrome is comparatively slow as compared to others and have distinct
physical appearance and they also face health issues at frequent intervals. The risk of having a
baby with this disorder increase with the maternal age, for instance the risk is 1:1000 at the age
of 30, while at the age of 35 the risk is 1:400. The thinking ability of the people with down
syndrome also declines with age. There is also a risk of developing Alzheimer disease (a brain
disorder), which finally leads to loss of memory (National institute of health). This disorder is
most commonly found in Arab countries like UAE, Egypt, Kuwait and Oman. According to a
research published in CTGA entry, six Arab countries (Dubai, Oman, Qatar, Saudi Arabia,
Kuwait, Israel) have higher incidence of down syndrome than any other international figures
(The centre for Arab genomic studies). The Down syndrome is the most common genetic
disorder found in Arab countries and has a notable scientific attention. Down syndrome
complications in Arab countries include acute leukemia, congenital heart disease and impairment
Abstract
Down syndrome, also known as ‘trisomy 21’ is a most common genetic problem happens before
birth. One out of every 800 births are affected by this chromosomal anomaly. The abnormal
count of chromosomes in the cell is the genetic reason of down syndrome. Incorrect number of
chromosomes in the cell is generally associated with the errors in chromosome distribution
between the dividing cells during egg formation. Down syndrome affects the development of the
body and brain. One can see a huge variation in mental abilities, behavior and the physical
development of an individual with down syndrome. The range of intellectual disability may also
vary from mild to severe. Symptoms of this disorder are easily recognizable such as the eye
corners started displaying oblique eye fissures, having a flat nasal bridge, short neck and small
head, short and low set ears, broad feet with short toes etc. The physical and mental development
of the people with down syndrome is comparatively slow as compared to others and have distinct
physical appearance and they also face health issues at frequent intervals. The risk of having a
baby with this disorder increase with the maternal age, for instance the risk is 1:1000 at the age
of 30, while at the age of 35 the risk is 1:400. The thinking ability of the people with down
syndrome also declines with age. There is also a risk of developing Alzheimer disease (a brain
disorder), which finally leads to loss of memory (National institute of health). This disorder is
most commonly found in Arab countries like UAE, Egypt, Kuwait and Oman. According to a
research published in CTGA entry, six Arab countries (Dubai, Oman, Qatar, Saudi Arabia,
Kuwait, Israel) have higher incidence of down syndrome than any other international figures
(The centre for Arab genomic studies). The Down syndrome is the most common genetic
disorder found in Arab countries and has a notable scientific attention. Down syndrome
complications in Arab countries include acute leukemia, congenital heart disease and impairment
3
of cellular immune responses. This paper mainly discusses about the prevalence and effects of
the down syndrome in Arab countries and their treatment.
of cellular immune responses. This paper mainly discusses about the prevalence and effects of
the down syndrome in Arab countries and their treatment.
4
Background
What is Down Syndrome?
Down syndrome is a chromosomal disorder caused due to the abnormal division of cells which
leads to an extra full or partial copy of chromosome 21 (Sherman et al, 2007). ‘Jerome Lejeune’,
a French physician, developed the cause of down syndrome in 1959 (National Down Syndrome
Society). In case of down syndrome, the count of chromosomes is 47 instead of 46 (half
chromosomes comes from the mother and half from the father i.e. 23 from each). So this is due
to having one extra chromosome number 21 in addition to the already existing normal pair. This
type of down syndrome is called trisomy 21 which accounts for 95% of the down syndrome
cases (Spencer, 2014). According to researchers the extra copy of chromosome 21 affects the
normal course of development of an individual, and also there is an increased risk of health
problems associated with this disorder (Dekker, De Deyn, & Rots, 2017).
Mosaicism is the least common form of down syndrome which accounts for only one percent of
cases. This occurs due to a mixture of two type of cells, with some containing the usual count of
46 and some containing 47 chromosomes. People suffering from mosaic down syndrome have
very fewer characteristics as compared to other types of down syndrome). Translocation type of
down syndrome accounts for the remaining 4% cases of the down syndrome. In this type the
additional full or partial copy of chromosome 21 attaches to the another chromosome
(chromosome 14) (Dekker, De Deyn, & Rots, 2017). The hereditary component is present only
in one third cases of translocation down syndrome, that accounts for one percent of the total
cases of down syndrome as a whole. This genetic disorder further affects the physical and mental
wellbeing of the individual by slowing the development growth both physically and mentally.
Background
What is Down Syndrome?
Down syndrome is a chromosomal disorder caused due to the abnormal division of cells which
leads to an extra full or partial copy of chromosome 21 (Sherman et al, 2007). ‘Jerome Lejeune’,
a French physician, developed the cause of down syndrome in 1959 (National Down Syndrome
Society). In case of down syndrome, the count of chromosomes is 47 instead of 46 (half
chromosomes comes from the mother and half from the father i.e. 23 from each). So this is due
to having one extra chromosome number 21 in addition to the already existing normal pair. This
type of down syndrome is called trisomy 21 which accounts for 95% of the down syndrome
cases (Spencer, 2014). According to researchers the extra copy of chromosome 21 affects the
normal course of development of an individual, and also there is an increased risk of health
problems associated with this disorder (Dekker, De Deyn, & Rots, 2017).
Mosaicism is the least common form of down syndrome which accounts for only one percent of
cases. This occurs due to a mixture of two type of cells, with some containing the usual count of
46 and some containing 47 chromosomes. People suffering from mosaic down syndrome have
very fewer characteristics as compared to other types of down syndrome). Translocation type of
down syndrome accounts for the remaining 4% cases of the down syndrome. In this type the
additional full or partial copy of chromosome 21 attaches to the another chromosome
(chromosome 14) (Dekker, De Deyn, & Rots, 2017). The hereditary component is present only
in one third cases of translocation down syndrome, that accounts for one percent of the total
cases of down syndrome as a whole. This genetic disorder further affects the physical and mental
wellbeing of the individual by slowing the development growth both physically and mentally.
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An individual with down syndrome may also suffer from heart and gastrointestinal disorders.
Early interventions and better knowledge about down syndrome will greatly help in increasing
the quality of life of the children or adult facing this disorder (Centre for Arab Genomic Studies,
2013). Small stature, low muscle tone, an upward slant to the eyes and a single deep crease
across the center of the palm are some of the physical changes that are rightly noticeable in an
individual facing this disorder (Dekker, De Deyn, & Rots, 2017). However, these are not
necessarily the only physical changes that an individual face. Language development is also very
slow amongst the children facing this disorder.
The study of Aburawi, et al, (2015) also finds that children suffering with down syndrome are
significantly shorter and heavier in weight than normal children. Obesity is also a significant
problem among such children. There can be behavioral issues also like attention problem,
stubborn nature, obsessive and compulsive behavior etc. Autism spectrum disorder is also found
in a very small percentage of people facing this disorder which affects communication and social
interaction (Dekker, De Deyn, & Rots, 2017). A gradual decline in thinking ability is also seen
among the people with down syndrome as they age.
Prevalence and cause of Down Syndrome
Down syndrome is considered as the most common congenital anomalies that is affecting 1 in
every 800 births. An individual with down syndrome may have a full extra or partial part of
chromosome 21 present. However, the cause of this extra full or partial chromosome 21 is still
unknown. The prevalence of down syndrome differs from country to country because of the
various social and environmental factors. For, example the incidence of down syndrome may be
lower in the developed countries, in comparison to developing countries. This could be because
An individual with down syndrome may also suffer from heart and gastrointestinal disorders.
Early interventions and better knowledge about down syndrome will greatly help in increasing
the quality of life of the children or adult facing this disorder (Centre for Arab Genomic Studies,
2013). Small stature, low muscle tone, an upward slant to the eyes and a single deep crease
across the center of the palm are some of the physical changes that are rightly noticeable in an
individual facing this disorder (Dekker, De Deyn, & Rots, 2017). However, these are not
necessarily the only physical changes that an individual face. Language development is also very
slow amongst the children facing this disorder.
The study of Aburawi, et al, (2015) also finds that children suffering with down syndrome are
significantly shorter and heavier in weight than normal children. Obesity is also a significant
problem among such children. There can be behavioral issues also like attention problem,
stubborn nature, obsessive and compulsive behavior etc. Autism spectrum disorder is also found
in a very small percentage of people facing this disorder which affects communication and social
interaction (Dekker, De Deyn, & Rots, 2017). A gradual decline in thinking ability is also seen
among the people with down syndrome as they age.
Prevalence and cause of Down Syndrome
Down syndrome is considered as the most common congenital anomalies that is affecting 1 in
every 800 births. An individual with down syndrome may have a full extra or partial part of
chromosome 21 present. However, the cause of this extra full or partial chromosome 21 is still
unknown. The prevalence of down syndrome differs from country to country because of the
various social and environmental factors. For, example the incidence of down syndrome may be
lower in the developed countries, in comparison to developing countries. This could be because
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the developed countries in the Arab world may have better application and uptake of the
antenatal diagnostic service and also receives the permission to terminate the pregnancy if such
case is discovered. According to the study of Al-Biltagi (2015) “the estimated incidence of down
syndrome is between 1 to 10/1000 live births worldwide” (p. 85).
The only factor linked to an increased chance of having a baby with down syndrome is the
maternal age (National Down Syndrome Society, 2016) and the risk increases with an increase in
maternal age. According to a report the risk is 1:1000 at the age of 30 while at the age of 35 the
risk is 1:400 (Centre for Arab Genomic Studies, 2013). According to a report the incidence of
down syndrome in some Arab countries is slightly higher as compared to the other countries
globally. The incidence of down syndrome in Dubai is 1:319, in Oman it is 1:500, Qatar (1:546),
Saudi Arabia (1:554), Kuwait (1:581), Israel is 1:547 (Al-Biltagi, 2015). There are a number of
factors associated with the higher number of incidence rate in Arab countries such as
consanguineous marriages (marriages among first cousins), increased maternal age and having a
high number of children, lack of prenatal detection which further to terminate pregnancies with
down syndrome fetuses (Hamamy et al, 2011).
Risk Factors For Down Syndrome
People with Down syndrome often take some drugs and supplements to support their brain
activities but according to a research the medicines are not able to make any specific change or
there are no medicines developed till date that helps a person to recover from this disorder. The
burden of this disease is very high in Arab world, because it results in significant morbidity,
mortality and disability among the infants. The rate of children suffering with down syndrome in
many Arab countries is increasing from 1.2-1.7 per 1000 mainly in the industrialized countries.
the developed countries in the Arab world may have better application and uptake of the
antenatal diagnostic service and also receives the permission to terminate the pregnancy if such
case is discovered. According to the study of Al-Biltagi (2015) “the estimated incidence of down
syndrome is between 1 to 10/1000 live births worldwide” (p. 85).
The only factor linked to an increased chance of having a baby with down syndrome is the
maternal age (National Down Syndrome Society, 2016) and the risk increases with an increase in
maternal age. According to a report the risk is 1:1000 at the age of 30 while at the age of 35 the
risk is 1:400 (Centre for Arab Genomic Studies, 2013). According to a report the incidence of
down syndrome in some Arab countries is slightly higher as compared to the other countries
globally. The incidence of down syndrome in Dubai is 1:319, in Oman it is 1:500, Qatar (1:546),
Saudi Arabia (1:554), Kuwait (1:581), Israel is 1:547 (Al-Biltagi, 2015). There are a number of
factors associated with the higher number of incidence rate in Arab countries such as
consanguineous marriages (marriages among first cousins), increased maternal age and having a
high number of children, lack of prenatal detection which further to terminate pregnancies with
down syndrome fetuses (Hamamy et al, 2011).
Risk Factors For Down Syndrome
People with Down syndrome often take some drugs and supplements to support their brain
activities but according to a research the medicines are not able to make any specific change or
there are no medicines developed till date that helps a person to recover from this disorder. The
burden of this disease is very high in Arab world, because it results in significant morbidity,
mortality and disability among the infants. The rate of children suffering with down syndrome in
many Arab countries is increasing from 1.2-1.7 per 1000 mainly in the industrialized countries.
7
This mainly due to the high proportion of the child birth. Having large number of children is a
traditional and cultural element in the Arab world and they prefer having many children in
family. This is a significant risk factor, as the mothers keeping giving birth to children till very
old age that affects the health and well-being of the children being born in older age of mother.
There are various social and economic trends associated with a high maternal age in the Arab
world. This is due to the fact that most of the women in the Arab world choose high level of
professional development in the early 20s and the early 30s (Al-Biltagi, 2015). The only reason
associated with it is to provide better financial conditions to the family for a healthy living. So
now the Arab world is also experiencing similar trends as that of the western world throughout
the shift to industrialization, so there is a need to take the same measures or to adopt the same
practices as that of the western world like antenatal screening using ultrasounds, amniocentesis
and chronic villus sampling as well as preserving the oocyte (an egg bank) (Acikbas et al, 2012).
This results in creating a significant burden of the disease. The high prevalence of down
syndrome in Arabs is due to their socio-economic and religious belief that includes the common
practice of consanguineous marriages, multiparty and increased maternal age.
Lack of educational awareness can also affect the prevalence and incidence of down syndrome.
The lack of education also affects the health outcome of the people in Arab world. The people,
who are not educated, do not understand the significance of the antenatal screening tests, which
is significant for detecting the down syndrome in the babies (Korayem, & AlKofide, 2013).
Therefore, lack of knowledge and education of the parents also prevents them from taking
antenatal screening and terminating such pregnancies. The people in Arab world are at the risk of
genetic problem even if they have the family history of genetic disorder or not. Various countries
in Arab world have also made the provisions for the premarital screening and antenatal
This mainly due to the high proportion of the child birth. Having large number of children is a
traditional and cultural element in the Arab world and they prefer having many children in
family. This is a significant risk factor, as the mothers keeping giving birth to children till very
old age that affects the health and well-being of the children being born in older age of mother.
There are various social and economic trends associated with a high maternal age in the Arab
world. This is due to the fact that most of the women in the Arab world choose high level of
professional development in the early 20s and the early 30s (Al-Biltagi, 2015). The only reason
associated with it is to provide better financial conditions to the family for a healthy living. So
now the Arab world is also experiencing similar trends as that of the western world throughout
the shift to industrialization, so there is a need to take the same measures or to adopt the same
practices as that of the western world like antenatal screening using ultrasounds, amniocentesis
and chronic villus sampling as well as preserving the oocyte (an egg bank) (Acikbas et al, 2012).
This results in creating a significant burden of the disease. The high prevalence of down
syndrome in Arabs is due to their socio-economic and religious belief that includes the common
practice of consanguineous marriages, multiparty and increased maternal age.
Lack of educational awareness can also affect the prevalence and incidence of down syndrome.
The lack of education also affects the health outcome of the people in Arab world. The people,
who are not educated, do not understand the significance of the antenatal screening tests, which
is significant for detecting the down syndrome in the babies (Korayem, & AlKofide, 2013).
Therefore, lack of knowledge and education of the parents also prevents them from taking
antenatal screening and terminating such pregnancies. The people in Arab world are at the risk of
genetic problem even if they have the family history of genetic disorder or not. Various countries
in Arab world have also made the provisions for the premarital screening and antenatal
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screening. However, the poor access of people to such programs and facilities results in
increasing the burden of disease (Al-Gazali, Hamamy, & Al-Arrayad, 2006).
Attitude of People
The children suffering from down syndrome have different physical features, physical structure
and also have language problems. Such children may face many difficulties in social interaction
and may not get appropriate opportunity of social inclusion (Al-Kindi, Al-Juhaishi, & Al-Saffar,
2012). Studies have found that there is a lack of awareness among the people towards the
individuals suffering from down syndrome and this may result in discriminatory behavior
towards them. The burden of the disease on the patients and families’ increases, due to the
problem of stigmatization and social exclusion. Perception of the people towards down
syndrome has been found to be very poor (Al-Kindi, Al-Juhaishi, & Al-Saffar, 2012). People
often hold negative opinion and negative attitude about people suffering from down syndrome.
This can also result in many psychological consequences and can increase the burden of the
disease Al-Biltagi, (2015). However, there is a lack of qualitative and quantitative evidences of
the community attitude and attitude of people in Arab World. Although, it has been found that
parents do have positive attitude towards the social inclusion of their children in schools, yet, in
general, people in Arabian countries lack the awareness towards the intellectual disability
disorders.
Aims of Review
Aim of the review is to provide significant and important evidences found in the literature. The
search for the articles is conducted through PubMed also some of the articles are also added from
the cross reference and other important journals. Down syndrome is a common congenital
screening. However, the poor access of people to such programs and facilities results in
increasing the burden of disease (Al-Gazali, Hamamy, & Al-Arrayad, 2006).
Attitude of People
The children suffering from down syndrome have different physical features, physical structure
and also have language problems. Such children may face many difficulties in social interaction
and may not get appropriate opportunity of social inclusion (Al-Kindi, Al-Juhaishi, & Al-Saffar,
2012). Studies have found that there is a lack of awareness among the people towards the
individuals suffering from down syndrome and this may result in discriminatory behavior
towards them. The burden of the disease on the patients and families’ increases, due to the
problem of stigmatization and social exclusion. Perception of the people towards down
syndrome has been found to be very poor (Al-Kindi, Al-Juhaishi, & Al-Saffar, 2012). People
often hold negative opinion and negative attitude about people suffering from down syndrome.
This can also result in many psychological consequences and can increase the burden of the
disease Al-Biltagi, (2015). However, there is a lack of qualitative and quantitative evidences of
the community attitude and attitude of people in Arab World. Although, it has been found that
parents do have positive attitude towards the social inclusion of their children in schools, yet, in
general, people in Arabian countries lack the awareness towards the intellectual disability
disorders.
Aims of Review
Aim of the review is to provide significant and important evidences found in the literature. The
search for the articles is conducted through PubMed also some of the articles are also added from
the cross reference and other important journals. Down syndrome is a common congenital
9
anomaly in Saudi Arabia. The frequency of such anomalies differ from country to country on the
basis of various factors. Although, there have been decrease in the prevalence of such disease
with the increasing technological advancement and treatment range, yet Down syndrome still
significantly prevails and result in significant childhood mortality. Therefore, it has also been
found that genetic disorder causes significant morbidity, mortality and disability among children
in Middle East. Genetic disorder is the major problem in the Arab world. This review is mainly
focused on discussing the current knowledge and understanding about the genetic disorders, such
as down syndrome and its prevalence in Arab World.
The inclusion criteria that has been applied for the research is that only published studies and
government reports are select for the purpose of this review. This inclusion criterion is applied in
order to maintain the quality of the evidences. PubMed is specifically used to locate the articles,
cross-sectional studies and quantitative studies for preparing this review. The statistically
significant results can be appropriately obtained from the quantitative study. Therefore, the
review has focused on finding and locating the appropriate and current studies that could provide
the current rate of prevalence, incidence and effects of Down Syndrome in Arab World.
Therefore, this review aims towards providing the effective and readable synthesis of the quality
resources and could also help in enhancing the knowledge about the current area of research. The
review also provides the directions for the future research in reference to down syndrome and its
effect on population in Arab World.
Methods
The qualitative method and inductive approach has been used in preparing this review. Keyword
research method have been used for locating the resources in PubMed. Some of the keywords
anomaly in Saudi Arabia. The frequency of such anomalies differ from country to country on the
basis of various factors. Although, there have been decrease in the prevalence of such disease
with the increasing technological advancement and treatment range, yet Down syndrome still
significantly prevails and result in significant childhood mortality. Therefore, it has also been
found that genetic disorder causes significant morbidity, mortality and disability among children
in Middle East. Genetic disorder is the major problem in the Arab world. This review is mainly
focused on discussing the current knowledge and understanding about the genetic disorders, such
as down syndrome and its prevalence in Arab World.
The inclusion criteria that has been applied for the research is that only published studies and
government reports are select for the purpose of this review. This inclusion criterion is applied in
order to maintain the quality of the evidences. PubMed is specifically used to locate the articles,
cross-sectional studies and quantitative studies for preparing this review. The statistically
significant results can be appropriately obtained from the quantitative study. Therefore, the
review has focused on finding and locating the appropriate and current studies that could provide
the current rate of prevalence, incidence and effects of Down Syndrome in Arab World.
Therefore, this review aims towards providing the effective and readable synthesis of the quality
resources and could also help in enhancing the knowledge about the current area of research. The
review also provides the directions for the future research in reference to down syndrome and its
effect on population in Arab World.
Methods
The qualitative method and inductive approach has been used in preparing this review. Keyword
research method have been used for locating the resources in PubMed. Some of the keywords
10
that are used for locating the appropriate resources are ‘Down syndrome’, ‘what is down
syndrome’, ‘prevalence of down syndrome’, ‘risks associated with down syndrome’, ‘burden of
down syndrome on population’, ‘incidence of down syndrome in Arab World’, ‘risk factors and
down syndrome’, ‘prevalence of down syndrome in Arab World’ and ‘reasons of down
syndrome prevalence’.
Flowchart of the Final Number of Articles Retrieved for this Review Study
Methodology is a very important approach for preparing the research articles and research
studies. The key word search requires to enter the correct keywords and must be in line with the
requirements and objectives of the study. The main objective of the study to provide the review
of literature in order to find the evidences that can help in developing knowledge about the
current scope and disease prevalence.
300 studies located
through online search
in PubMed
Full Copies Retrieved
and assessed for
inclusion
n=11
Publication Included
in Review- PubMed
Finally Included =
11
150 studies excluded
after reviewing the
title
120 studies excluded
after reviewing
abstract
30 studies excluded
after reviweing the
complete text
that are used for locating the appropriate resources are ‘Down syndrome’, ‘what is down
syndrome’, ‘prevalence of down syndrome’, ‘risks associated with down syndrome’, ‘burden of
down syndrome on population’, ‘incidence of down syndrome in Arab World’, ‘risk factors and
down syndrome’, ‘prevalence of down syndrome in Arab World’ and ‘reasons of down
syndrome prevalence’.
Flowchart of the Final Number of Articles Retrieved for this Review Study
Methodology is a very important approach for preparing the research articles and research
studies. The key word search requires to enter the correct keywords and must be in line with the
requirements and objectives of the study. The main objective of the study to provide the review
of literature in order to find the evidences that can help in developing knowledge about the
current scope and disease prevalence.
300 studies located
through online search
in PubMed
Full Copies Retrieved
and assessed for
inclusion
n=11
Publication Included
in Review- PubMed
Finally Included =
11
150 studies excluded
after reviewing the
title
120 studies excluded
after reviewing
abstract
30 studies excluded
after reviweing the
complete text
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Results
1. Dekker, A. D., De Deyn, P. P., & Rots, M. G. (2017). Epigenetics and Down
syndrome. In Neuropsychiatric Disorders and Epigenetics (pp. 163-184).
This study is found to be significant because it provides important and current evidences related
to down syndrome. The study also defines the genetic disorder, however, it lacks to provide the
empirical evidences about the epidemiology of the down syndrome. This study can be beneficial
in exploring the epigenetics associated with down syndrome.
2. Aburawi, E. H., Nagelkerke, N., Deeb, A., Abdulla, S., & Abdulrazzaq, Y. M. (2015).
National growth charts for United Arab Emirates children with Down syndrome
from birth to 15 years of age. Journal of epidemiology, 25(1), 20-29. (PubMed)
This is a very important study as it is focused on the Arab country and can help in informing
about prevalence and epidemiology of down syndrome. UAE is a significant part of Arab World
and a developed country. The prevalence of disease in this country provides a strong in sight
about the reasons of disease occurrence and also inform that what challenges children have to
face, who are suffering from down syndrome. This article helped in gaining the epidemiological
information about disease.
3. Sherman, S. L., Allen, E. G., Bean, L. H., & Freeman, S. B. (2007). Epidemiology of
Down syndrome. Developmental Disabilities Research Reviews, 13(3), 221-227.
(PubMed)
This study has been helpful in informing about the incidence and prevalence of down syndrome
around the world. This study provides some strong evidences about the epidemiology of this
genetic disorder and what are the major risk factors associated with it. However, the study lacks
Results
1. Dekker, A. D., De Deyn, P. P., & Rots, M. G. (2017). Epigenetics and Down
syndrome. In Neuropsychiatric Disorders and Epigenetics (pp. 163-184).
This study is found to be significant because it provides important and current evidences related
to down syndrome. The study also defines the genetic disorder, however, it lacks to provide the
empirical evidences about the epidemiology of the down syndrome. This study can be beneficial
in exploring the epigenetics associated with down syndrome.
2. Aburawi, E. H., Nagelkerke, N., Deeb, A., Abdulla, S., & Abdulrazzaq, Y. M. (2015).
National growth charts for United Arab Emirates children with Down syndrome
from birth to 15 years of age. Journal of epidemiology, 25(1), 20-29. (PubMed)
This is a very important study as it is focused on the Arab country and can help in informing
about prevalence and epidemiology of down syndrome. UAE is a significant part of Arab World
and a developed country. The prevalence of disease in this country provides a strong in sight
about the reasons of disease occurrence and also inform that what challenges children have to
face, who are suffering from down syndrome. This article helped in gaining the epidemiological
information about disease.
3. Sherman, S. L., Allen, E. G., Bean, L. H., & Freeman, S. B. (2007). Epidemiology of
Down syndrome. Developmental Disabilities Research Reviews, 13(3), 221-227.
(PubMed)
This study has been helpful in informing about the incidence and prevalence of down syndrome
around the world. This study provides some strong evidences about the epidemiology of this
genetic disorder and what are the major risk factors associated with it. However, the study lacks
12
some significant empirical evidences. Study identifies down syndrome as the most common
genetic disorder globally. One significant limitation of the study is that it provides the evidences
from the sample of children from United States.
4. Spencer, K. (2014). Screening for Down syndrome. Scandinavian Journal of Clinical
and Laboratory Investigation, 74(sup244), 41-47. (PubMed)
This study is significant because it informs about the antenatal screening, which is significant for
identifying the genetic disorder in babies. Screening is considered as the important and
successfully developed as the biochemical marker and algorithms for identifying the risks mainly
associated with trisomy 21 and 18. This study is very significant for increasing the awareness
towards the process of screening that is mainly important in the Arab world, because the
incidence of down syndrome in children is higher in Arab countries.
5. Centre for Arab Genomic Studies. (2013). Down Syndrome in the Arab world.
Retrieved from http://www.cags.org.ae/Down%20Syndrome-English.pdf
This is a document that significantly address the issue of down syndrome in relation to Arab
World. One significant limitation of the study is that it is not a journal article or papers, yet is
associated with Arab Genomics, therefore, provides many significant evidence mainly associated
with Arab countries. It provides the information about prevalence and incidence rate. The only
limitation of the study is that it lacks empirical evidences from literature.
6. Hamamy, H., Antonarakis, S. E., Cavalli-Sforza, L. L., Temtamy, S., Romeo, G.,
Ten Kate, L. P., ... & Bathija, H. (2011). Consanguineous marriages, pearls and
perils: Geneva international consanguinity workshop report. Genetics in
Medicine, 13(9), 841. (PubMed)
some significant empirical evidences. Study identifies down syndrome as the most common
genetic disorder globally. One significant limitation of the study is that it provides the evidences
from the sample of children from United States.
4. Spencer, K. (2014). Screening for Down syndrome. Scandinavian Journal of Clinical
and Laboratory Investigation, 74(sup244), 41-47. (PubMed)
This study is significant because it informs about the antenatal screening, which is significant for
identifying the genetic disorder in babies. Screening is considered as the important and
successfully developed as the biochemical marker and algorithms for identifying the risks mainly
associated with trisomy 21 and 18. This study is very significant for increasing the awareness
towards the process of screening that is mainly important in the Arab world, because the
incidence of down syndrome in children is higher in Arab countries.
5. Centre for Arab Genomic Studies. (2013). Down Syndrome in the Arab world.
Retrieved from http://www.cags.org.ae/Down%20Syndrome-English.pdf
This is a document that significantly address the issue of down syndrome in relation to Arab
World. One significant limitation of the study is that it is not a journal article or papers, yet is
associated with Arab Genomics, therefore, provides many significant evidence mainly associated
with Arab countries. It provides the information about prevalence and incidence rate. The only
limitation of the study is that it lacks empirical evidences from literature.
6. Hamamy, H., Antonarakis, S. E., Cavalli-Sforza, L. L., Temtamy, S., Romeo, G.,
Ten Kate, L. P., ... & Bathija, H. (2011). Consanguineous marriages, pearls and
perils: Geneva international consanguinity workshop report. Genetics in
Medicine, 13(9), 841. (PubMed)
13
The study discusses a very significant risk factor that results in high occurrence of down
syndrome around the world. Study discusses the Consanguineous marriages as the significant
risk factor for the occurrence of genetic disorder including down syndrome. This study is
included in the research because Consanguineous marriages are customary and common in Arab
World ad a significant reason of occurrence of down syndrome.
7. Al-Biltagi, M. (2015). Down syndrome from Epidemiologic Point of View. EC
Paediatrics, 2, 82-91. (PubMed)
This study is considered to be very important because its views the genetic disorder from the
epidemiological perspective. It provides the prevalence data related to down syndrome in Arab
world and also in many other countries. The limitation of the study is that it lacks empirical data.
However, it also identifies the genetic and environmental factors that can result in causing down
syndrome in children. However, study consider maternal age as an risk factor in occurrence of
down syndrome.
8. Acikbas, I., Tomatir, A. G., Akdag, B., & Koksal, A. (2012). Retrospective analysis
of live birth prevalence of children with Down syndrome in Denizli, Turkey. Genet
Mol Res, 11(4), 4640-5.
This study is conducted in Turkey, which is also a Muslim natation and also follows the
traditions and belief according to people in Arab World. The author informs that down syndrome
is the most common chromosome abnormality among the live births. Maternal age and lack of
antenatal screening are considered as major risk factor. The study is a cross sectional study and
provide empirical evidences.
The study discusses a very significant risk factor that results in high occurrence of down
syndrome around the world. Study discusses the Consanguineous marriages as the significant
risk factor for the occurrence of genetic disorder including down syndrome. This study is
included in the research because Consanguineous marriages are customary and common in Arab
World ad a significant reason of occurrence of down syndrome.
7. Al-Biltagi, M. (2015). Down syndrome from Epidemiologic Point of View. EC
Paediatrics, 2, 82-91. (PubMed)
This study is considered to be very important because its views the genetic disorder from the
epidemiological perspective. It provides the prevalence data related to down syndrome in Arab
world and also in many other countries. The limitation of the study is that it lacks empirical data.
However, it also identifies the genetic and environmental factors that can result in causing down
syndrome in children. However, study consider maternal age as an risk factor in occurrence of
down syndrome.
8. Acikbas, I., Tomatir, A. G., Akdag, B., & Koksal, A. (2012). Retrospective analysis
of live birth prevalence of children with Down syndrome in Denizli, Turkey. Genet
Mol Res, 11(4), 4640-5.
This study is conducted in Turkey, which is also a Muslim natation and also follows the
traditions and belief according to people in Arab World. The author informs that down syndrome
is the most common chromosome abnormality among the live births. Maternal age and lack of
antenatal screening are considered as major risk factor. The study is a cross sectional study and
provide empirical evidences.
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9. AlSalloum, A., ElMouzan, M. I., AlHerbish, A., AlOmer, A., & Qurashib, M. (2015).
Prevalence of selected congenital anomalies in Saudi children: a community-based
study. Annals of Saudi medicine, 35(2). (PubMed)
This study informs about the gap in literature, as very limited evidences are available on the
prevalence of the congenital anomalies in Middle East countries. This cross sectional study
informs that prevalence of congenital anomalies in Saudi Arabian children is high because of the
high consanguinity rate and high maternal age. This study is also important because it is
community based and provide empirical evidences regarding the prevalence, incidence, risk
factors and gaps in knowledge.
10. Korayem, M. A., & AlKofide, E. A. (2013). Characteristics of Down syndrome
subjects in a Saudi sample. The Angle Orthodontist, 84(1), 30-37. (PubMed)
This study compares the main characteristics of the individuals suffering from down syndrome
with the normal subjects with the help of cephalometric radiographs. This study can be help in
directing the future research regarding the treatment of individuals suffering with down
syndrome. This study defines the down syndrome, however, lack data regarding the incidence
and prevalence of the disease.
11. Al-Gazali, L., Hamamy, H., & Al-Arrayad, S. (2006). Genetic disorders in the Arab
world. Bmj, 333(7573), 831-834.(PubMed)
This study is mainly focused on the prevalence and incidence of genetic disorder in Arab World.
This study identifies the major risk factors such as high level of inbreeding, high maternal and
paternal age and also large family sizes. This study found that there are various factors affecting
the knowledge of people about disease. Therefore, it required that focus should be placed on
enhancing knowledge and education of people and also improve the access of people to
specialized genetic services.
9. AlSalloum, A., ElMouzan, M. I., AlHerbish, A., AlOmer, A., & Qurashib, M. (2015).
Prevalence of selected congenital anomalies in Saudi children: a community-based
study. Annals of Saudi medicine, 35(2). (PubMed)
This study informs about the gap in literature, as very limited evidences are available on the
prevalence of the congenital anomalies in Middle East countries. This cross sectional study
informs that prevalence of congenital anomalies in Saudi Arabian children is high because of the
high consanguinity rate and high maternal age. This study is also important because it is
community based and provide empirical evidences regarding the prevalence, incidence, risk
factors and gaps in knowledge.
10. Korayem, M. A., & AlKofide, E. A. (2013). Characteristics of Down syndrome
subjects in a Saudi sample. The Angle Orthodontist, 84(1), 30-37. (PubMed)
This study compares the main characteristics of the individuals suffering from down syndrome
with the normal subjects with the help of cephalometric radiographs. This study can be help in
directing the future research regarding the treatment of individuals suffering with down
syndrome. This study defines the down syndrome, however, lack data regarding the incidence
and prevalence of the disease.
11. Al-Gazali, L., Hamamy, H., & Al-Arrayad, S. (2006). Genetic disorders in the Arab
world. Bmj, 333(7573), 831-834.(PubMed)
This study is mainly focused on the prevalence and incidence of genetic disorder in Arab World.
This study identifies the major risk factors such as high level of inbreeding, high maternal and
paternal age and also large family sizes. This study found that there are various factors affecting
the knowledge of people about disease. Therefore, it required that focus should be placed on
enhancing knowledge and education of people and also improve the access of people to
specialized genetic services.
15
12. Al-Kindi, S. G., Al-Juhaishi, T., & Al-Saffar, A. J. (2012). Community attitudes
towards people with down’s syndrome: A sample from Iraq. Public Health
Research, 2(4), 102-105.
This study is very significant because it informs about the attitude of the people towards the
individuals suffering from down syndrome. It explains about the burden of the disease on the
people and their families. These evidences are important in order to design the future
interventions for improving the life of people suffering with down syndrome in Arab nations.
Name of Author
and year
Title Study
Population
Study Type Main Results
Dekker, De
Deyn, & Rots,.
(2017).
Epigenetics and
Down syndrome
Cross sectional
study
The study help in
explaining the
genetic disorder
of down
syndrome and
helps in
providing the
information
about the genetic
issues and
epigenetics
associated with
down syndrome.
Aburawi et al
(2015)
National growth
charts for United
Arab Emirates
children with
Down syndrome
from birth to 15
years of age
UAE Retrospective
and cross-
sectional growth
study of Emirati
children
The incidence
rate of down
syndrome is
found to be high
in UAE. Study
helps in
explaining the
others problems
that children
have to face with
the genetic
disorder of down
syndrome.
Sherman, S. L.,
Allen, E. G.,
Bean, L. H., &
Freeman, S. B.
(2007).
Epidemiology of
Down syndrome
Infants in
United Nations
Qualitative
study
Study provides
the important
information
about the
epidemiology of
12. Al-Kindi, S. G., Al-Juhaishi, T., & Al-Saffar, A. J. (2012). Community attitudes
towards people with down’s syndrome: A sample from Iraq. Public Health
Research, 2(4), 102-105.
This study is very significant because it informs about the attitude of the people towards the
individuals suffering from down syndrome. It explains about the burden of the disease on the
people and their families. These evidences are important in order to design the future
interventions for improving the life of people suffering with down syndrome in Arab nations.
Name of Author
and year
Title Study
Population
Study Type Main Results
Dekker, De
Deyn, & Rots,.
(2017).
Epigenetics and
Down syndrome
Cross sectional
study
The study help in
explaining the
genetic disorder
of down
syndrome and
helps in
providing the
information
about the genetic
issues and
epigenetics
associated with
down syndrome.
Aburawi et al
(2015)
National growth
charts for United
Arab Emirates
children with
Down syndrome
from birth to 15
years of age
UAE Retrospective
and cross-
sectional growth
study of Emirati
children
The incidence
rate of down
syndrome is
found to be high
in UAE. Study
helps in
explaining the
others problems
that children
have to face with
the genetic
disorder of down
syndrome.
Sherman, S. L.,
Allen, E. G.,
Bean, L. H., &
Freeman, S. B.
(2007).
Epidemiology of
Down syndrome
Infants in
United Nations
Qualitative
study
Study provides
the important
information
about the
epidemiology of
16
down syndrome.
Study includes
the information
about the world
prevalence rate
of down
syndrome and
the risk
associated with
this genetic
disease. Study
determines the
clinical cause,
prevalence and
incidence of
down syndrome.
Spencer, K.
(2014).
Screening for
Down syndrome.
United Kingdom Qualitative
study
Study informs
about the
definition and
occurrence of
down syndrome.
Study also
related the
prevalence of
down syndrome
with the maternal
age that is a
significant factor
for increasing the
risk of disease.
Centre for Arab
Genomic
Studies. (2013)
Down Syndrome
in the Arab
world
Arab population Review Study This study is
very important as
it provides the
specific insight
in the prevalence
and
epidemiology of
down syndrome
in Arab
population
Hamamy,
Antonarakis,
Cavalli-Sforza,
Temtamy,
Romeo, Ten
Kate, & Bathija,.
Consanguineous
marriages, pearls
and perils:
Geneva
international
consanguinity
Geneva Qualitative
review study
The focus of the
study is on the
countries, where
the
consanguineous
marriages are
down syndrome.
Study includes
the information
about the world
prevalence rate
of down
syndrome and
the risk
associated with
this genetic
disease. Study
determines the
clinical cause,
prevalence and
incidence of
down syndrome.
Spencer, K.
(2014).
Screening for
Down syndrome.
United Kingdom Qualitative
study
Study informs
about the
definition and
occurrence of
down syndrome.
Study also
related the
prevalence of
down syndrome
with the maternal
age that is a
significant factor
for increasing the
risk of disease.
Centre for Arab
Genomic
Studies. (2013)
Down Syndrome
in the Arab
world
Arab population Review Study This study is
very important as
it provides the
specific insight
in the prevalence
and
epidemiology of
down syndrome
in Arab
population
Hamamy,
Antonarakis,
Cavalli-Sforza,
Temtamy,
Romeo, Ten
Kate, & Bathija,.
Consanguineous
marriages, pearls
and perils:
Geneva
international
consanguinity
Geneva Qualitative
review study
The focus of the
study is on the
countries, where
the
consanguineous
marriages are
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17
(2011) workshop report customary,
which means the
marriage in first
cousins. This is a
significant factor
that affects the
genetic factors of
infants in Arab
world. Study also
explains that
how such
marriages and
maternal age
result in
prevalence of
down syndrome.
Mohammed Al-
Biltag (2015)
Down syndrome
from
Epidemiologic
Point of View
World
Population
Review Study Study mainly
focuses on
informing about
the various
factors that affect
the rate of
occurrence of
down syndrome
across various
population in
different
continents and
countries. Paper
recognized
various genetic
and
environmental
factors that result
in increasing
incidence of
down syndrome
in infants. Study
also discussed
potential risk
factors.
Acikbas,
Tomatir, Akdag,
& Koksal,
(2012)
Retrospective
analysis of live
birth prevalence
of children with
Down syndrome
Turkey Retrospective
study
Study examines
the prevalence
variation of
down syndrome.
Retrospective
(2011) workshop report customary,
which means the
marriage in first
cousins. This is a
significant factor
that affects the
genetic factors of
infants in Arab
world. Study also
explains that
how such
marriages and
maternal age
result in
prevalence of
down syndrome.
Mohammed Al-
Biltag (2015)
Down syndrome
from
Epidemiologic
Point of View
World
Population
Review Study Study mainly
focuses on
informing about
the various
factors that affect
the rate of
occurrence of
down syndrome
across various
population in
different
continents and
countries. Paper
recognized
various genetic
and
environmental
factors that result
in increasing
incidence of
down syndrome
in infants. Study
also discussed
potential risk
factors.
Acikbas,
Tomatir, Akdag,
& Koksal,
(2012)
Retrospective
analysis of live
birth prevalence
of children with
Down syndrome
Turkey Retrospective
study
Study examines
the prevalence
variation of
down syndrome.
Retrospective
18
in Denizli,
Turkey
analysis of live
birth prevalence
of children with
Down syndrome
in Denizli,
Turkey. study
extracts the 16
years of the
survey result to
understand the
prevalence and
risk factors
associated with
down syndrome.
AlSalloum et al
(2015)
Prevalence of
selected
congenital
anomalies in
Saudi children: a
community-
based study
Saudi Children The stidy
focused on the
Saudi Children
and also
discussed the
prevalence of the
congenital
anomalies in the
children. Study
found that down
syndrome is the
most common
genetic
congenital
anomalies in the
children and risk
factors are
maternal age and
consanguineous
marriages.
Mohammed A.
Korayema and
Eman A.
AlKofide.
(2014)
Characteristics
of Down
syndrome
subjects in a
Saudi sample
Saudi Arabia Quantitative
study
The study
focused on
differentiating
the
characteristics of
the individuals
with down
syndrome and
compare them
with the normal
subjects. Study
also provide the
in Denizli,
Turkey
analysis of live
birth prevalence
of children with
Down syndrome
in Denizli,
Turkey. study
extracts the 16
years of the
survey result to
understand the
prevalence and
risk factors
associated with
down syndrome.
AlSalloum et al
(2015)
Prevalence of
selected
congenital
anomalies in
Saudi children: a
community-
based study
Saudi Children The stidy
focused on the
Saudi Children
and also
discussed the
prevalence of the
congenital
anomalies in the
children. Study
found that down
syndrome is the
most common
genetic
congenital
anomalies in the
children and risk
factors are
maternal age and
consanguineous
marriages.
Mohammed A.
Korayema and
Eman A.
AlKofide.
(2014)
Characteristics
of Down
syndrome
subjects in a
Saudi sample
Saudi Arabia Quantitative
study
The study
focused on
differentiating
the
characteristics of
the individuals
with down
syndrome and
compare them
with the normal
subjects. Study
also provide the
19
in-sight to many
risk factors
associated with
this genetic
disorder.
Al-Gazali,
Hamamy, & Al-
Arrayad, (2006).
Genetic
disorders in the
Arab world
Arab Population Cross Sectional
Study
The main
findings of the
study inform that
genetic disorders
are common in
Arab countries
that result in
significant
disabilities
among
individuals.
Study informs
that there is lack
of interventions
and programs
directed towards
the prevention of
congenital and
genetic
disorders. Study
also discussed
that lack of
antenatal
screening also
results in
increasing the
risk and
prevalence of
down syndrome.
Sadeer G. Al-
Kindi , Taha Al-
Juhaishi , Atheer
J. Al-Saffar.
(2012)
Community
Attitudes
Towards People
with Down’s
Syndrome: A
Sample From
Iraq
Iraq Cross-Sectional
study
The study used
the self-
administered
questionnaire to
understand the
response of the
people towards
the inclusion of
the people
suffering from
down syndrome
in community.
in-sight to many
risk factors
associated with
this genetic
disorder.
Al-Gazali,
Hamamy, & Al-
Arrayad, (2006).
Genetic
disorders in the
Arab world
Arab Population Cross Sectional
Study
The main
findings of the
study inform that
genetic disorders
are common in
Arab countries
that result in
significant
disabilities
among
individuals.
Study informs
that there is lack
of interventions
and programs
directed towards
the prevention of
congenital and
genetic
disorders. Study
also discussed
that lack of
antenatal
screening also
results in
increasing the
risk and
prevalence of
down syndrome.
Sadeer G. Al-
Kindi , Taha Al-
Juhaishi , Atheer
J. Al-Saffar.
(2012)
Community
Attitudes
Towards People
with Down’s
Syndrome: A
Sample From
Iraq
Iraq Cross-Sectional
study
The study used
the self-
administered
questionnaire to
understand the
response of the
people towards
the inclusion of
the people
suffering from
down syndrome
in community.
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Study concludes
that there is a
need of
organized
campaigns and
programs to
increase
awareness of
people towards
down syndrome.
Discussion
Down syndrome is considered and found to be the most common genetic disorder in the Arab
World. The findings of the paper inform about various reasons that increases the risk of this
genetic disorder in children. The findings of the study inform that some of the major reasons
behind prevalence of this disorder are Consanguineous marriages, traditional and religious
custom of marrying the first cousins, high maternal age and also multiparty. There are various
genetic, environmental and social factors that can increase the prevalence of this disorder. Study
found that antenatal screening is very helpful in finding the genetic disorder in the fetus and after
knowing parents can terminate the pregnancy. However, due to religious and social restrictions
and also due to economic and ethnic factors, abortion is not allowed and women have to give
birth to children, even after knowing that child suffers from genetic disorder and will not be able
to lead a normal life.
In comparison to evidences from France and Europe, it has been found that abortion is allowed
in France and Europe, therefore, the birth prevalence of down syndrome is reduced in these
countries. For example, it was found that incidence rate of down syndrome in live births in Dubai
is 1:319, it is 1:500 in Oman, 1:554 in Saudi Arabia, and 1 in 700 in Egypt in Egypt, while the
Study concludes
that there is a
need of
organized
campaigns and
programs to
increase
awareness of
people towards
down syndrome.
Discussion
Down syndrome is considered and found to be the most common genetic disorder in the Arab
World. The findings of the paper inform about various reasons that increases the risk of this
genetic disorder in children. The findings of the study inform that some of the major reasons
behind prevalence of this disorder are Consanguineous marriages, traditional and religious
custom of marrying the first cousins, high maternal age and also multiparty. There are various
genetic, environmental and social factors that can increase the prevalence of this disorder. Study
found that antenatal screening is very helpful in finding the genetic disorder in the fetus and after
knowing parents can terminate the pregnancy. However, due to religious and social restrictions
and also due to economic and ethnic factors, abortion is not allowed and women have to give
birth to children, even after knowing that child suffers from genetic disorder and will not be able
to lead a normal life.
In comparison to evidences from France and Europe, it has been found that abortion is allowed
in France and Europe, therefore, the birth prevalence of down syndrome is reduced in these
countries. For example, it was found that incidence rate of down syndrome in live births in Dubai
is 1:319, it is 1:500 in Oman, 1:554 in Saudi Arabia, and 1 in 700 in Egypt in Egypt, while the
21
incidence rate in China is 2/1000, 0.83/1000 in India and it is 1:1700 in Australia (due to high
termination rate). Therefore, the above data informs that prevalence and incidence rate is higher
in Arab countries. There are various reasons identified for high incidence and prevalence. One of
the religious or cultural reason is that Arab people believe in making large families and giving
birth to many children. Giving birth to many children through Consanguineous marriages affects
the chromosomes and results in creating genetic anomalies. Also one reasons are that mother
keep giving birth to children even after the age of 40 and age is a significant risk factor.
Therefore, maternal age affects the health and well-being of the children. Due to contemporary
changes in the culture and society, one reason is that women are also now taking an active part in
economy. Women are participating in receiving higher education and are making careers. This
restricts them to give birth to children in early or appropriate age. Also, in many part of the Arab
world, the population is still tribal and are uneducated. Therefore, they lack the significance of
understanding the disease, disadvantages of giving birth to many children and understanding the
importance of antenatal screening. The hereditary problems and genetic disorder in the tribal
people increases the overall burden of the disease. Also, it has been found that 50% of the
children that are born with the down syndrome disorder are born to mothers, who are 40 years or
above in age.
There is a significant gap in the literature, regarding the prevalence and major risk factors
associated with it. It has also been found that there is a lack of extensive healthcare programs,
campaigns and interventions that could encourage women more towards antenatal and premarital
screening about chromosomal abnormality. The nation where the risk is higher and as it is
scientifically proved, it becomes very significant to increase the awareness of people. There is
also a lack of healthcare counselling that could be provides to the couples, in order to enhance
incidence rate in China is 2/1000, 0.83/1000 in India and it is 1:1700 in Australia (due to high
termination rate). Therefore, the above data informs that prevalence and incidence rate is higher
in Arab countries. There are various reasons identified for high incidence and prevalence. One of
the religious or cultural reason is that Arab people believe in making large families and giving
birth to many children. Giving birth to many children through Consanguineous marriages affects
the chromosomes and results in creating genetic anomalies. Also one reasons are that mother
keep giving birth to children even after the age of 40 and age is a significant risk factor.
Therefore, maternal age affects the health and well-being of the children. Due to contemporary
changes in the culture and society, one reason is that women are also now taking an active part in
economy. Women are participating in receiving higher education and are making careers. This
restricts them to give birth to children in early or appropriate age. Also, in many part of the Arab
world, the population is still tribal and are uneducated. Therefore, they lack the significance of
understanding the disease, disadvantages of giving birth to many children and understanding the
importance of antenatal screening. The hereditary problems and genetic disorder in the tribal
people increases the overall burden of the disease. Also, it has been found that 50% of the
children that are born with the down syndrome disorder are born to mothers, who are 40 years or
above in age.
There is a significant gap in the literature, regarding the prevalence and major risk factors
associated with it. It has also been found that there is a lack of extensive healthcare programs,
campaigns and interventions that could encourage women more towards antenatal and premarital
screening about chromosomal abnormality. The nation where the risk is higher and as it is
scientifically proved, it becomes very significant to increase the awareness of people. There is
also a lack of healthcare counselling that could be provides to the couples, in order to enhance
22
their knowledge about this genetic disorder. Therefore, there is a significant loop hole on policy
level.
Another problem is identified on the social and legal level. For example, termination of
pregnancy is not legally and religious allowed in the Arab countries, even when a ruling in 1990
allowed the termination of pregnancy in the first 120days, if the fetus was found to be
significantly affected by sever malformation that could not be even improved after the treatment.
However, people are still restricted from terminating pregnancy. Therefore, there is requirement
of making a strong law and policy that could address such problem and may also help in
reducing the prevalence of down syndrome in Arab countries. A family oriented approach is
required to be designed and applied that could help in informing people about the risks of giving
birth to large number of children and how proper screening approaches can benefit them in
having healthy children. Also, the clinical screening of the new born can help the clinicians in
detecting the abnormalities. This way parents could be better prepared to take care of such
children and provide them better environment. Increasing the awareness of parents and people in
community can help in better inclusion of such children in community.
their knowledge about this genetic disorder. Therefore, there is a significant loop hole on policy
level.
Another problem is identified on the social and legal level. For example, termination of
pregnancy is not legally and religious allowed in the Arab countries, even when a ruling in 1990
allowed the termination of pregnancy in the first 120days, if the fetus was found to be
significantly affected by sever malformation that could not be even improved after the treatment.
However, people are still restricted from terminating pregnancy. Therefore, there is requirement
of making a strong law and policy that could address such problem and may also help in
reducing the prevalence of down syndrome in Arab countries. A family oriented approach is
required to be designed and applied that could help in informing people about the risks of giving
birth to large number of children and how proper screening approaches can benefit them in
having healthy children. Also, the clinical screening of the new born can help the clinicians in
detecting the abnormalities. This way parents could be better prepared to take care of such
children and provide them better environment. Increasing the awareness of parents and people in
community can help in better inclusion of such children in community.
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23
References
Standard Journal Articles
Acikbas, I., Tomatir, A. G., Akdag, B., & Koksal, A. (2012). Retrospective analysis of live birth
prevalence of children with Down syndrome in Denizli, Turkey. Genet Mol Res, 11(4), 4640-5.
Aburawi, E. H., Nagelkerke, N., Deeb, A., Abdulla, S., & Abdulrazzaq, Y. M. (2015). National
growth charts for United Arab Emirates children with Down syndrome from birth to 15 years of
age. Journal of epidemiology, 25(1), 20-29.
Al-Biltagi, M. (2015). Down syndrome from Epidemiologic Point of View. EC Paediatrics, 2,
82-91. (PubMed)
Al-Gazali, L., Hamamy, H., & Al-Arrayad, S. (2006). Genetic disorders in the Arab
world. Bmj, 333(7573), 831-834.(PubMed)
Al-Kindi, S. G., Al-Juhaishi, T., & Al-Saffar, A. J. (2012). Community attitudes towards people
with down’s syndrome: A sample from Iraq. Public Health Research, 2(4), 102-105.
AlSalloum, A., ElMouzan, M. I., AlHerbish, A., AlOmer, A., & Qurashib, M. (2015). Prevalence
of selected congenital anomalies in Saudi children: a community-based study. Annals of Saudi
medicine, 35(2). (PubMed)
Dekker, A. D., De Deyn, P. P., & Rots, M. G. (2017). Epigenetics and Down syndrome.
In Neuropsychiatric Disorders and Epigenetics (pp. 163-184).
References
Standard Journal Articles
Acikbas, I., Tomatir, A. G., Akdag, B., & Koksal, A. (2012). Retrospective analysis of live birth
prevalence of children with Down syndrome in Denizli, Turkey. Genet Mol Res, 11(4), 4640-5.
Aburawi, E. H., Nagelkerke, N., Deeb, A., Abdulla, S., & Abdulrazzaq, Y. M. (2015). National
growth charts for United Arab Emirates children with Down syndrome from birth to 15 years of
age. Journal of epidemiology, 25(1), 20-29.
Al-Biltagi, M. (2015). Down syndrome from Epidemiologic Point of View. EC Paediatrics, 2,
82-91. (PubMed)
Al-Gazali, L., Hamamy, H., & Al-Arrayad, S. (2006). Genetic disorders in the Arab
world. Bmj, 333(7573), 831-834.(PubMed)
Al-Kindi, S. G., Al-Juhaishi, T., & Al-Saffar, A. J. (2012). Community attitudes towards people
with down’s syndrome: A sample from Iraq. Public Health Research, 2(4), 102-105.
AlSalloum, A., ElMouzan, M. I., AlHerbish, A., AlOmer, A., & Qurashib, M. (2015). Prevalence
of selected congenital anomalies in Saudi children: a community-based study. Annals of Saudi
medicine, 35(2). (PubMed)
Dekker, A. D., De Deyn, P. P., & Rots, M. G. (2017). Epigenetics and Down syndrome.
In Neuropsychiatric Disorders and Epigenetics (pp. 163-184).
24
Hamamy, H., Antonarakis, S. E., Cavalli-Sforza, L. L., Temtamy, S., Romeo, G., Ten Kate, L.
P., ... & Bathija, H. (2011). Consanguineous marriages, pearls and perils: Geneva international
consanguinity workshop report. Genetics in Medicine, 13(9), 841. (PubMed)
Korayem, M. A., & AlKofide, E. A. (2013). Characteristics of Down syndrome subjects in a
Saudi sample. The Angle Orthodontist, 84(1), 30-37. (PubMed)
Sherman, S. L., Allen, E. G., Bean, L. H., & Freeman, S. B. (2007). Epidemiology of Down
syndrome. Developmental Disabilities Research Reviews, 13(3), 221-227. (PubMed)
Spencer, K. (2014). Screening for Down syndrome. Scandinavian Journal of Clinical and
Laboratory Investigation, 74(sup244), 41-47. (PubMed)
Electronic Material
Centre for Arab Genomic Studies. (2013). Down Syndrome in the Arab world. Retrieved from
http://www.cags.org.ae/Down%20Syndrome-English.pdf
Hamamy, H., Antonarakis, S. E., Cavalli-Sforza, L. L., Temtamy, S., Romeo, G., Ten Kate, L.
P., ... & Bathija, H. (2011). Consanguineous marriages, pearls and perils: Geneva international
consanguinity workshop report. Genetics in Medicine, 13(9), 841. (PubMed)
Korayem, M. A., & AlKofide, E. A. (2013). Characteristics of Down syndrome subjects in a
Saudi sample. The Angle Orthodontist, 84(1), 30-37. (PubMed)
Sherman, S. L., Allen, E. G., Bean, L. H., & Freeman, S. B. (2007). Epidemiology of Down
syndrome. Developmental Disabilities Research Reviews, 13(3), 221-227. (PubMed)
Spencer, K. (2014). Screening for Down syndrome. Scandinavian Journal of Clinical and
Laboratory Investigation, 74(sup244), 41-47. (PubMed)
Electronic Material
Centre for Arab Genomic Studies. (2013). Down Syndrome in the Arab world. Retrieved from
http://www.cags.org.ae/Down%20Syndrome-English.pdf
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