Unit 13 - Sexual health, reproduction and early development stages
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Unit 4
D1- Analyse the significance of genetic influences as opposed to social factors in human
development.
Genetic factor case study
Tom, is a 25-year-old male living with Downs Syndrome. Downs Syndrome is a condition, in which an
individual is born with an additional chromosome, this defect is caused by chance and takes place as
a result of a change in the sperm or egg before a child is born. This defect is not caused as a result of
anything the pregnant female did during pregnancy. As Tom grows up he experiences bullying during
his adulthood years causing Tom to isolate himself for others around him. The bullying causes Tom
to eventually quit his job and move back home with his parents. As Tom lives with his parents he
becomes more isolated and eventually develops Alzheimer’s disease, depression and osteoporosis
and ends up in a nursing home at 42.
Types of downs syndrome
Trisomy 21: The most common, occurring when there are three, rather than two, number 21
chromosomes present in every cell of the body. Trisomy 21 accounts for 95% of Down’s Syndrome
cases.
Translocation: Part of chromosome 21 breaks off during cell division, attaching to another
chromosome, usually chromosome 14. Translocation accounts for 4% of Down’s Syndrome cases.
Mosaicism: Occurring when nondisjunction of chromosome 21 takes place in one but not all cell
diversions after egg fertilization. Mosaicism accounts for 1% of Downs Syndrome Cases.
How downs syndrome can affect how Tom ages and develops
Delayed language and speech development, slow learning, impulsive behaviour, poor judgement
and short attention span are cognitive impairments caused by Down’s Syndrome and can range from
mild to severe amongst individuals. It’s important to note that Down’s Syndrome is only rarely
associated with severe cognitive impairment.
Hearing loss, health conditions, such as autism, vision problems and heart abnormalities are often
associated with disorders and conditions that an individual may develop who is living with Down’s
syndrome. Individuals living with Down’s Syndrome, like everyone else, have likes and dislikes, and
their own personalities. Down’s Syndrome can come in three forms;
Due to Tom’s condition, there will also be a delay he reaches his developmental milestones which
can affect Tom emotionally, for example during adolescence Tom will witness all his peers dating
and driving which can cause Tom to feel jealous, singled out and different as it is very unlikely he will
pass a driving test because of his condition. Progressing to adulthood, most adults marry and have
children however, an individual with downs syndrome might not have the same opportunities.
Women with downs can have children however they have a 35-50% chance that their baby will have
downs syndrome. And some males are unable to have children if Tom is incapable of having children
because of his condition this can affect him emotionally which can lead to poor mental health.
Regarding Tom, a 25-year-old male living with Down’s Syndrome. As a child, there was a delay in
Tom reaching his developmental milestones, in both Toms fine and gross motor skills. These delays
in motor development reduced Toms opportunities in learning about the world around him,
therefore, affecting Toms cognitive development. Tom was affected doing the following tasks:
, Fine Motor Skills: Tom experienced a delay in being able to tie his shoelaces, fastening and
unfastening shirt buttons, picking up small objects and being able to colour and write are to name a
few.
Gross Motor Skills: Tom experienced a delay in being able to crawl and walk, and being able to catch
and kick a ball.
Tom has found it difficult to integrate and socialise with others, displaying some degree of
challenging behaviour which has required input from behaviour therapists.
Tom has impaired intellectual development, which has negatively impacted Toms educational
development. Which can affect how successful Tom is in the future preventing Tom from getting a
top job or going to university.
Tom has been unable to form long-lasting relationships with others due to his lack of social skills and
understanding of social inclusion.
Despite Toms condition, Tom is very particular in undertaking tasks, wanting everything to be
perfect being very conscientious. This strength has enabled Tom to hold down employment as a
recycling technician.
How downs syndrome affects ageing (genetic factor)
An individual living with Down’s Syndrome will have a level of learning disability with the severity of
such varying amongst individuals. Individuals will, therefore, have a range of abilities, for example
being able to succeed in employment or individuals who require care regularly.
Living with a genetic condition such as downs syndrome can affect the ageing process. As adults with
downs syndrome experience accelerated ageing meaning that they experience certain conditions
and physical features that are common to typically ageing adults at an earlier age than the general
population. The experience of accelerated ageing can be seen medically, physically, and functionally.
For example, as individuals, age commonly caregivers observe that most individuals with downs
syndrome begin to slow down once they enter their 40s and 50s.
Common conditions in adults with downs syndrome include:
Hypothyroidism, type 2 diabetes, visual impairments including cataracts, and keratoconus, auditory
impairments, heart abnormalities, Gastrointestinal conditions, coeliac disease, obesity, reflux,
constipation, sleep apnoea, epilepsy, arthritis, dementia and osteoporosis
Common medical conditions that Tom could get with ageing
Sensory loss
Adults with downs syndrome are at risk of early cataracts and keratoconus. Cataracts cause a
clouding of the lens of the eye, producing blurry and impaired vision. Keratoconus causes the round
cornea to become cone-shaped, which can lead to distorted vision causing Tom to struggle to carry
out everyday tasks such as walking.
Adults with downs syndrome are at high risk of hearing loss. Also, they tend to have small ear canals
that can impair hearing. This can affect Toms hearing however, aids can be put in place to allow Tom
to communicate such as Braille or sign language.
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