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Yeoman_Jordy HHB 130 - Essay

The impact of genetics on the physical and mental health on Australian children

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Yeoman_Jordy HHB 130 - Essay
Contents Page
1.0 Introduction..........................................................................................................................1
2.0 Impacts of genetics on mental health....................................................................................2
3.0 Impacts of genetics on physical health...................................................................................3
5.0 Conclusion.............................................................................................................................4
6.0 References.............................................................................................................................5

Yeoman_Jordy HHB 130 - Essay

The impact of genetics on the physical and mental health on Australian children
1.0 Introduction:

This paper will examine and discuss the impact of genetics on the mental and physical health of
Australian children. The Merriam Webster dictionary defined genes as "a specific sequence of
nucleotides in DNA or RNA that is located usually on a chromosome and that is the functional unit of
inheritance controlling the transmission and expression of one or more traits by specifying the
structure of a particular polypeptide and especially a protein or controlling the function of
other genetic material" (Gene, 2014). The aim is to explore and begin to understand the effect of
genes on the both physical and mental health of Australian children. Many childhood conditions are
influenced by complicated interactions between both genetic and environmental factors, however the
genetic influences can be diverse and therefore difficult to identify (Kenner, Gallo & Byrant, 2005).
Kenner, Gallo & Bryant (2005) continue by saying that there is a continuum of genetic conditions in
children that range from single-gene conditions with a high proportion of the people with the mutation
developing the disease to low and varying amounts of people developing the disease (Kenner, Gallo
& Byrant, 2005). The basis from which many congenital anomalies form from are vastly diverse,
however genetic disorders are by far the biggest factor in developing such abnormalities (Australian
Institute of Health and Welfare [AIHW], 2009). Genetic disorders such as single gene defects and
chromosomal abnormalities are most widely the root of abnormality formations yet partly genetic
disorders such as multifactorial congenital malformations still affect a large percentage of children
(AIHW, 2009). In 1996, chromosomal abnormalities represented 13% of all congenital
malformations in Australia which had an incident rate of 228 per 100,000 live births (Australian
Institute of Health and Welfare [AIHW], 2005). As stated by the Australian Institute of Health and
Welfare (2009), congenital abnormalities account for 12% of the diseases in children aged 0-14 in
2003, and that these abnormalities were the second leading cause of infant death in Australia in 2006
being 22% of all deaths.
There are three major types of genetic diseases that are recognized, these include monogenic
disorders, chromosomal abnormalities and multifactorial diseases (AIHW, 2005). Common examples
of monogenic disorders include cystic fibrosis, haemophilia and muscular dystrophy (AIHW, 2005).
Down syndrome is the most common form of chromosomal abnormalities however other frequent
examples include spina bifida, cleft lip or palate and congenital heart disease (AIHW, 2005). Most
common of these types of genetic disorders is multifactorial diseases, which contribute to health
problems such as high blood pressure, asthma, schizophrenia and diabetes (AIHW, 2005).


Yeoman_Jordy HHB 130 - Essay

2.0 The impact of genetics on the mental health of Australian children
A mental disability can be defined as either an impairment in performing specific mental tasks or a
deviation from cognitive process that are seen as different to how the culture, community or society
deems to be normal (Lukey, 2009, p. 8). In regards to mental health, the most serious and impacting
on mental health is that of (MR) mental retardation which is the most frequent cause of serious
handicap in children and young adults (Chelly & Mandel, 2004). Features of MR include associated
functional discrepancies in adaptive behaviour such as communication skills, social interactions and
daily living (Chelly & Mandel, 2004). Examples of monogenic disorders that cause mental health
issues such as mental retardation include Phenylktonuria, Holoprosencephaly and Duchenne muscular
dystrohpy (Chelly & Mandel, 2004). These such diseases which cause mental retardation also cause
the affected individual to suffer from impaired cognition (Chelly & Mandel, 2004).
Many different genetic disorders can cause delayed language development in children. For example,
children with autism, William's syndrome or Down syndrome are all characterized by language
development delays (Evans-Martin, 2009). Children with autism can experience difficulties with both
verbal and non-verbal communication and the lacking communication skills are a common indication
of autism (Weismer, 2010). Similarly, children with Williams syndrome can also exhibit below
average language development in comparison to typically developing children, although their IQ
performance is still considered normal (Stavrakaki, 2010). Children with fragile X syndrome also
experience a delayed language ability (Hogan-Brown, Losh, Martin & Mueffelmann, 2013), other
language related skills such as reading and writing are limited (Carvajal & Aldridge, 2011). Down
syndrome can also cause children to have difficulty with speech production and progress slower than
typically developing children (Evans-Martin, 2009).
Intellectual disabilities can also be a result of many genetic disorders, some of the most frequently
occurring of these are autism, fragile X syndrome and Asperger's syndrome (Hogan-Brown, Losh,
Martin & Mueffelmann, 2013). Children with fragile X syndrome will display an intellectual
disability before the age of 18, and many parents will notice that their child shows signs of intellectual
disabilities before the child even starts early childhood education (Carvajal & Aldridge, 2011).


Yeoman_Jordy HHB 130 - Essay

3.0 Impacts of genetics on physical health:
A physical disability is usually conceptualized as the diminished ability to perform specific tasks and
activities that are considered essential for self-care and independent living (Chelly & Mandel,
2004). Genetics play a massive role on the physical health of Australian children, in 1998 it is
estimated that 296,400 children between the ages of 0 and 14 had a disability and of that 144,100
children were estimated to have a physical disability (Australian Institute of Health and Welfare
[AIHW], 2004). Similar to mental health issues, many genetic disorders that cause physical
disabilities share common symptoms such as heart defects, respiratory problems and kidney troubles
(Weismer, 2010).
Multifactorial diseases are the most common form of genetic disorders because external factors such
as environment play an equal role in impacting physical health (AIHW, 2005). Multifactorial
diseases such as asthma, high blood pressure and diabetes are prevalent throughout all health
societies, furthermore these diseases can be prevented as much as they can be developed due to
genetic pre-disposition and genetic weakness (AIHW, 2005). The effects of multifactorial diseases
on physical health are vast, an example such as asthma effects physical health by limiting the
individual's ability to perform physical activity along with reducing the quality of life and in severe
cases causing the individual to have an asthma attack and die from lack of oxygen (Chelly &
Mandel, 2004). A common example of physical impacts caused by a monogenetic disorder is Cystic
fibrosis, which occurs once in every 2500 Australian babies, furthermore, 1 in 25 Australians are
carriers of the Cystic Fibrosis gene mutation (National Health and Medical Research Council,
2007). Cystic fibrosis shares some of the common physical problems that occur in genetic disorders
including lung disease which occurs in 95% of Cystic fibrosis sufferers, liver disease and diabetes
which both occur in 20% of Cystic fibrosis sufferers (National Health and Medical Research
Council, 2007).
Chromosomal abnormalities are by far the most impacting group of genetic disorders on the physical
health of the suffering individual. Most common and widely known chromosomal abnormality is
Down syndrome which affects 1 in every 1150 live births in Australia (Chelly & Mandel, 2004).
Inheritance of a defective gene such as sickle cell anaemia can have a positive impact on an
effected individual, although sufferers of the abnormality have acute pain and organ damage,
the shape of the cell prevents the person from contracting malaria, therefore the person is able
to survive and pass on the abnormality (Mahomed, 2006). It is estimated that around 19,913
babies are born with Sickle cell anaemia every year in Australia (Mahomed, 2006).


Yeoman_Jordy HHB 130 - Essay
4.0 Conclusion:
As seen in this essay, genetics is a massive factor in determining the physical and mental health of
Australian children. Genetic disorders can almost all be categorised by 3 major groups, monogenetic
disorders, chromosomal abnormalities and multifactorial diseases. Multifactorial diseases are the most
common form of genetic disorders because they can be affected by external environmental factors,
asthma, diabetes and high blood pressure are the most prevalent and frequently occurring of the
diseases. Monogenetic disorders and chromosomal abnormalities are not as prevalent as multifactorial
diseases, however the disorders they cause are far more impacting on the individuals physical and
mental health, examples such as Down syndrome, Cystic fibrosis and Spina bifida cause severe
problems such as heart failure, lung disease and mental retardation. Research has shown that genetics
determine the health of an individual before they are born, after which environmental factors are then
incorporated. Therefore whenever there is a mutation or alteration in a genetic sequence, problems
arise that will negatively affect the physical and mental health of an Australian child.


Yeoman_Jordy HHB 130 - Essay
5.0 References:

Australian Institute of Health and Welfare. (2009). A Picture of Australia's children 2009
(Report 112). Retrieved from

Australian Institute of Health and Welfare. (2005). Australia's Health 2004 (Report 19).
Retrieved from
Australian Institute of Health and Welfare. (2004). Children with disabilities in Australia
(Report 38). Retrieved from
Chelly, J., & Mandel, J. (2004). Monogenic Causes of X-Linked Mental Retardation. Nature
Reviews. Genetics, 2, 669-80. Retrieved from
Evans-Martin, F. F. (2009). Down Syndrome. Retrieved from
Gene. (2014). In Merriam Webster's Online Dictionary. Retrieved from http://www.merriam-

Kenner, C., Gallo, A. M., & Byrant, K. D. (2005). Promoting Children's Health Through
Understanding of Genetics and Genomics. Journal of Nursing Scholarship, 37, 308-

Lukey, B. T. (2009). Mental disability and moral personhood: Rethinking Kant through the
cases of down syndrome, alzheimer disease, and autism. (Doctoral dissertation).
Retrieved from

Mahomed, K. (2006). WITHDRAWN: Prophylactic versus selective blood transfusion for
sickle cell anaemia during pregnancy. The Cochrane Database of Systematic Reviews,
National Health and Medical Research Council. (2007). Cystic Fibrosis. Retrieved from
Rondal, J. A. (2010). Language in Down syndrome: A life-span perspective. In M. A. Barnes
(Eds), Genes, Brain and Development (1st ed., 122). Cambridge University Press.


Yeoman_Jordy HHB 130 - Essay
Stavrakaki, S. (2010). Language development in children with Williams syndrome: New
insights from cross-linguistic research. In In M. A. Barnes (Eds), Genes, Brain and
Development (1st ed., 105-121). Cambridge University Press.

Weismer, S. E. (2010). Language and communication in autism spectrum disorders. In M. A.
Barnes (Eds), Genes, Brain and Development (1st ed., 85-105). Cambridge University