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Genetic factors which affect Development - Coggle Diagram
Genetic factors which affect Development
Cystic Fibrosis
In the past, they had had short life expectancy, but now medical treatment extends their life expectancy and quality of life
People with the condition may have problems absorbing nourishment from food and they may also suffer from chest and respiratory infection
The gene is recessive – both parents must be carriers for their children to develop cystic fibrosis
Caused by a fault gene which 4% of the UK population carry
If both parents carry the faulty gene, there is a 1 in 4 chance of the child being born with cystic fibrosis
In the future, it may be possible to use genetic therapy to replace the faulty gene
Physiotherapy helps clear mucus from their lungs
Results in a defective protein being produced that can cause lungs to become clogged with thick sticky mucus
Various drugs help
Throat and lung infections
Control breathing
Special diet and drugs help with food absorption
Brittle Bone Disease
May be passed from a person's parents, but can also develop from a genetic mutation
Children born with this disease they are at high risk of fracturing or breaking their bones easily because their bones develop without the right amount or type of protein called collegen
To strengthen their bones, they can be helped through
Physiotherapy
Assistive equipment
Drug treatments
Phenylketonuria (PKU)
Undetected PKU would fail to meet developmental milestones and experience developmental delay as their brain became damaged, it could lead to severe learning disability and child's death
If the child eats food containing phenylalanine there is a build-up of harmful substances in the body, causing damage to the brain
Rare genetic disorder which prevents a child from breaking down phenylalanine, an amino acid (a building block for protein)
All babies in the UK are screen when they are born by a heel-prick blood test, if found treatment is started immediately with a special diet and medication to prevent build-up of harmful substances
Cannot be cured
Phenylalanine can be found in the following, to name a few
Eggs
Meat
Milk
Huntington's disease
Can develop at any age but often started between the ages of 35 and 55
Symptoms vary between individuals but I can affect members of the same family in the same way so the progress of the disease is usually predictable
Inherited neurodegenerative genetic disorder which causes progressive damage to certain nerve cells in the brain
Brain damage gets progessively worse over time with:
Thinking
Judgement (cognition)
Awareness
Perception
Later life
Movement
Behaviour
Cognitive abilities
Become increasing dependent
As disease progesses
Problems associated with feeding, communication and erratic behaviour
Psychiatric problems
Early signs are hardly recongisable
Altered behaviour
Irritability
Fidgety movements
Subtle changes in personality + mood swings
It can affect
Muscle coordination
Behavioural changes
Mental decline
Klinefelter Syndrome
Most adult males who have this condition are able to live independent and established careers and relationships
The extra X chromosome is acquired after the baby is conceived
No easy to identify in small children, sign and symptoms not always obvious
Estimated 1 in 600 boys are born with the condition also known as XXY
Slow to reach milestones like sitting up, crawling and walking
Signs
Slow to reach milestones like sitting up, crawling and walking
Undescended testicles
Delayed communication passive personality
Difficulty socialising and expressing their feeling – impact on emotional development and self-esteem
Poor muscle power
Mild learning difficulties
Low attention span
High rates of dyslexia and dyspraxia
Difficulty with literacy skills especially reading, writing and spelling
Physical Signs
Puberty often not affected
Reduction of calcium in bones
Testes don't increase in size
Small penis
Low muscle tone
Small firm testicles
Lack of body or facial hair
May be lack of testosterone leading to a flappy body
Difficulties with sex drive (libido) + fertility
Treatment is available for low testosterone levels
Down's Syndrome
Genetic condition that occurs as a result of an extra chromosome (chromosome 21)
Causes varying levels of learning disability, characteristic physical features and associated medical issues
In majority of cases, it isn't inherited, result of a one-off genetic 'mistake' in the sperm or egg
Life expectancy of people who have Down's syndrome is genetically between 50 and 60 years old, a small number live into their 70s (this is due improvements in health care)
NHS Scotland (2004) people with Down's syndrome experience a high incidence of depression and other health conditions like hearing, visual or heart problems
Improved health and social care support and education has provided opportunties like being able to live independently, form relationship and gain employment
Each year 750 babies born in the UK have the condition, this is 60,000 people in the UK
Higher risk of giving birth to a baby with Down's Syndrome for women 45+ (1 in 50). 20 year old women has a risk of 1 in 1500
Genetic factors
Genes are made of a substance called deoxyribonucleic acid (DNA)
DNA contains instructions for producing proteins, these proteins regulate the development of a human being
Each living cell in the body has a nucleus containing 23 pairs of chromosomes
Each chromosome contains genes which carry genetic information e.g. eye colour
One pair coming from the mother and the other from the father
Genetic predisposition to particular conditions
Genetic predisposition: inherited genes that determine physical growth, development, health and appearance – this could be one or both of your parents
Some inherited conditions are rarer than others and can have serious consequences of a child's growth and development
Doesn't mean that you will certainly develop that condition
Genetic make-up can be altered based on environmental factors which can offer support and treatment to allow individuals to develop and lead healthier lives
Colour blindness
Rare condition where the person has no perception of colour
Colour vision deficiency, where individuals have difficulty telling the difference between colours is also known as colour blindness
Inherited colour vision deficiency is a result of an abnormality in the retina (light-sensitive layer of cells that line in the back of the eye)
Health and social care provider take colour blindness into consideration when delivering servives by using appropriate colour schemes when producing printed information
Others experience other disease such as diabetes and multiple sclerosis. The aging process or side effects of certain medication can also affect colour recognition
Varies in severity and some people don't realise they are colour blind, leading healthy lives without treatment
Approximately 2.7 million people in the UK, 4.5%, most commonly men
It is important that colour bindness is recognised so learning experience is not affected and doesn't lead to long-term health problems
Majority of people, the condition is genetic
Duchenne muscular dystrophy
Muscular dystrophies (MD) are a group of inherited genetic conditions that gradually weaken muscles leading to disability which is a progessive condition because it worsens over time
Survival beyond the age of 30 was rare, but research and medical advance increase so do life expectancy. The right specialist health and social care make a huge difference to both the quality and length of life
Changes in the muscle fibres that interfere with their ability to function
The most common and severe form is Duchenne muscular dystrophy, it is inherited on the female gene and is passes only to male offspring
Caused by genetic mutations on the X chromosome which prevents vital muscle protein and dystrophin – essential for building and repairing muscles
Despite it being a severely disabling many young men are able to lead active lives
Caused by changes in the genes responsible for the structure and functioning a person's muscles
They may face severe health problems, especially late teens, as muscles in heart and lungs weaken
Usually diagnosed by the age of 5 but definitely diagnosed by 12, they may need a wheelchair
Serious condition with muscle weakness mainly around the hips and shoulders - gross motor skills are more affected than fine motor skills
Muscle weakness is not noticeable at birth but becomes more noticeable in early childhood and more prominent as the child grows older
Muscular Dystrophy UK (2015) research: 1 in 3500 boys born in the UK have the condition, there are 2500 boys living in the UK with the condition at any one time
Susceptibility to disease
Diseases are more likely to occur in individuals with a susceptibility including certain types of cancer, diabetes and having blood cholesterol
World Health Organization (WHO): most diseases involve environmental factors and the complex interaction of genes
Although an individual may not be born with a disease, their genetic make-up may make them susceptible to acquiring it later in life
Cancer
Cancers where there is a genetic link
Bowel
Womb
Kidney
Breast
Most cancers are linked to environmental and lifestyle factors
E.g. skin cancer linked to over exposure of ultraviolet (UV) light
E.g. lung cancer linked to tobacco
Over 200 types of cancer
Cell disease which means they become abnormal and divide to make even more abnormal cells
Some people more at risk because of inherited gene faults
If you have a fault gene getting cancer is not inevitable but an unhealthy lifestyle will increase the risk
40% of cancers can be prevented by making different lifestyle choices including
Reducing alcohol intake
Not smoking
Diet
Exercising
Avoiding environmental factors such as exposure to sun or asbestos dust
High blood cholesterol
Factors which increase the chance of having a high blood cholesterol levels
Unhealthy diet
Smoking
Lack of exercise
Inherited condition that runs in families, known as familial hypercholesterolaemia
Caused by a gene alteration inherited from a parents
Cholesterol is a fatty substance that is carried around the body by proteins, too much build-up in the artery walls can cause heart disease and other cardiovascular diseases
In the UK, 1 in 600 people have this condition
There is 50% chance that a child or sibling of someone diagnosed with familial hypercholesterolaemia will also have the condition
People with is type of high cholesterol are born with the condition and it can lead to early heart problems unless treated
Diabetes
Risk for developing Type 2 diabetes is almost 90% if you have an identical twin who is diabetic
Increasingly common chronic condition affecting millions of people in the UK
1 in 16 people (3.9 million) in the UK affected which is double since 1996
Factors such as environment and lifestyle are more likely to play a role in Type 2 (later/mature onset) diabetes there is a strong predisposition to developing both Type 1 (early onset, insulin-dependent) and Type 2