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