genetic factos that affect development Flashcards
what are brittle bones
Brittle bones known as osteoporosis is a health condition that weakens bones, ,making them fragole and more likely to break
Brittle bone disease is a lifelong genetic disorder that causes your bones to break very easily, usually without any type of injury, as from a fall. Your doctor may also call it osteogenesis imperfecta
how are brittle bones causes
Losing bone is a normal part of ageing, but some people lose bone much faster than normal. This can lead to osteoporosis and an increased risk of broken bones.
Women also lose bone rapidly in the first few years after their menopause. Women are more at risk of osteoporosis than men, particularly if the menopause begins early (before the age of 45) or they’ve had their ovaries removed.
However, osteoporosis can also affect men, younger women and children
how does brittle bones affect someones PIES
Physical: Severe forms of the disease can affect the shape of the rib cage and spine, which can lead to life-threatening breathing problems
Intellectual: These nutrients are important for the development of strong, healthy bones. People with rickets may have weak and soft bones, stunted growth, and, in severe cases, skeletal deformities.
Emotional: osteoporosis can lead to feelings of anxiety, due to dear of falling or fear of fracture and depression
Social: can experience low self esteem or anxiety
what is cystic fibrosis
Cystic fibrosis is an inherited condition that causes sticky mucus to build up in the lungs and digestive system. This causes lung infections and problems with digesting food.
what causes cystic fibrosis
To be born with cystic fibrosis, a child has to inherit a copy of the faulty gene from both of their parents. This can happen if the parents are “carriers” of the faulty gene, which means they don’t have cystic fibrosis themselves.
It’s estimated around 1 in every 25 people in the UK are carriers of cystic fibrosis.
how does cystic fibrosis affect PIES
physical : trouble with growth, physical and gaining weight
intellectual : doesnt effect
emotional : anxiety and depression
social : some people may feel barriers to forming relationships, such as lack of independence or embarrassment because of symptoms
what is phenylketonuria
Our bodies break down the protein in foods, such as meat and fish, into amino acids, which are the “building blocks” of protein.
These amino acids are then used to make our own proteins. Any amino acids that are not needed are broken down further and removed from the body.
People with PKU cannot break down the amino acid phenylalanine, which then builds up in their blood and brain. This can lead to brain damage.
what causes phenylketonuria
PKU is inherited from a person’s parents. The disorder is passed down in a recessive pattern, which means that for a child to develop PKU, both parents have to contribute a mutated version of the PAH gene. If both parents have PKU, their child will have PKU as well.
how does Phenylketonuria affect PIES
physical : causes brain damage and nervous system
Intellectual: irreversible brain damage and marked intellectual disability beginning within the first few month of life
emotional : poor self esteem
social : less social competence
what is huntingtons disease
Huntington’s disease is a condition that stops parts of the brain working properly over time. It’s passed on (inherited) from a person’s parents.
It gets gradually worse over time and is usually fatal after a period of up to 20 years.
what causes huntingtons disease
How it’s inherited. Huntington’s disease is caused by a faulty gene that results in parts of the brain becoming gradually damaged over time. You’re usually only at risk of developing it if one of your parents has or had it. Both men and women can get it
how does huntingtons disease affect PIES
physically: stumbling and clumsiness. involuntary jerking or fidgety movements of the limbs and body
intellectually: Huntington’s disease also causes a decline in thinking and reasoning skills, including memory, concentration, judgment, and ability to plan and organize.
emotionally: depression – including low mood, a lack of interest in things, and feelings of hopelessness
socially: Impaired social functioning is a key feature of Huntington’s disease (HD). In addition to motor limitations that prevent social participation (e.g., fall risk, driving cessation), personality changes caused by cognitive and psychiatric decline alter social functioning capacity in people with HD.
what is Kliefelter syndrome
Klinefelter syndrome (KS), also known as 47,XXY, is a syndrome where a male has an additional copy of the X chromosome.[3] The primary features are infertility and small, poorly functioning testicles.[3][9] Usually, symptoms are subtle and subjects do not realize they are affected
what causes Kliefelter syndrome
linefelter syndrome is not directly inherited – the additional X chromosome occurs as a result of either the mother’s egg or the father’s sperm having the extra X chromosome (an equal chance of this happening in either), so after conception the chromosome pattern is XXY rather than XY.
How does Kliefelter syndrome affect pies
Physical: growing taller
Intellectual: average iq of 80 to 90
emotional : low self esteem, emotional immaturity and impulsiveness
Social: have trouble paying attention
How does Kliefelter syndrome affect pies
Physical: growing taller
Intellectual: average iq of 80 to 90
emotional : low self esteem, emotional immaturity and impulsiveness
Social: have trouble paying attention
what is down syndrome
you usually get an extra chromosome by chance, because of a change in the sperm or egg before you’re born.
This change does not happen because of anything anyone did before or during pregnancy.
causes of down syndrome
in almost all cases, Down’s syndrome does not run in families.
Your chance of having a baby with Down’s syndrome increases as you get older, but anyone can have a baby with Down’s syndrome.
Speak to a GP if you want to find out more. They may be able to refer you to a genetic counsellor.
how does down syndrome affect pies
Physical: delayed in all areas of their development gross and fine motor skills
Intellectual: The ability of children with Down syndrome to hold and process verbal information is not as good as their ability to hold and process visual information. These verbal short-term memory problems make it more difficult to learn new words and sentences.
Emotional : The most common mental health concerns in individuals with Down syndrome include anxiety, obsessive-compulsive behaviors, oppositional behaviors, depression, and tic disorder.
Social: Most children and adults with Down syndrome continue to develop good social skills and appropriate social behaviour, though a significant minority may develop difficult behaviours, particularly those with the greatest delays in speech and language development.
what is colour blindness
People with colour vision deficiency find it difficult to identify and distinguish between certain colours.
It’s sometimes called being “colour blind”, although total colour blindness (an inability to see any colour) is very rare
what causes colour blindness
in the vast majority of cases, colour vision deficiency is caused by a genetic fault passed on to a child by their parents.
It occurs because some of the colour-sensitive cells in the eyes, called cones, are either missing or do not work properly.
how does colour blindness affect PIES
Physical; find it hard to tell the difference between reds oranges, yellows, browns and greens
Intellectual: difficulty in school if colours are used
emotional : can create frustrations and problems when it comes doing daily tasks that rely on knowing just what colour certain things are
Social: loss of interest and withdrawal of participation
what is Duchene Muscular
Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness due to the alterations of a protein called dystrophin that helps keep muscle cells intact. DMD is one of four conditions known as dystrophinopathies.
what causes Duchene Muscular
MD is caused by mutations (alterations) in the genes responsible for healthy muscle structure and function. The mutations mean that the cells that should maintain your muscles can no longer fulfil this role, leading to muscle weakness and progressive disability.
meaning of high blood cholesterol
High cholesterol is when you have too much of a fatty substance called cholesterol in your blood. It’s mainly caused by eating fatty food, not exercising enough, being overweight, smoking and drinking alcohol
High blood cholesterol: causes and symptoms
It’s mainly caused by eating fatty food, not exercising enough, being overweight, smoking and drinking alcohol. It can also run in families.
You can lower your cholesterol by eating healthily and getting more exercise. Some people also need to take medicine.
High blood cholesterol: genes
A reason for high cholesterol levels is an inherited condition that runs in families, known as familial hyper cholesterol anemia. In the uk, approximately 1 in 600 have this condition
It is caused by a gene alteration inherited from a parent
How does high cholesterol level affect PIES
Physical: restricting blood flow to your heart, brain and the rest of your body
Intellectual: have memory loss and mental function
Emotional: may experience anxiety or depression
Social: can feel left out
Type 1 diabetes: definition
Type 1 diabetes is a serious condition where your blood glucose (sugar) level is too high because your body cant make a hormone called insulin
Type 1 diabetes: causes and symptoms
feeling very thirsty.
peeing more than usual, particularly at night.
feeling very tired.
losing weight without trying.
thrush that keeps coming back.
blurred vision.
cuts and grazes that are not healing.
fruity-smelling breath.
Type 1 diabetes: PIES
physical : Problems will not start immediately, but constant high blood glucose levels can lead to: heart disease and stroke. foot and circulation problems. sight problems and blindness
intellectual : the condition doesn’t seem to impact a person’s learning and thinking skills, researchers say. But memory and attention span can be affected.
emotional : People with type 1 diabetes are at a heightened risk for mental health issues, including diabetes distress, depression, anxiety, and disordered eating.
social:
Type 2 diabetes: definition
Overview. Type 2 diabetes is an impairment in the way the body regulates and uses sugar (glucose) as a fuel. This long-term (chronic) condition results in too much sugar circulating in the bloodstream
Type 2 diabeties: causes and symptoms
Symptoms of type 2 diabetes include:
peeing more than usual, particularly at night
feeling thirsty all the time
feeling very tired
losing weight without trying to
itching around your penis or vagina, or repeatedly getting thrush
cuts or wounds taking longer to heal
blurred vision
What is genetic predisposition
Where you parents have it however you don’t, but you have a likelyhood to actually get it which triggers it
What is susceptibility
The habits / things you do that cause to happen. For example, smoking causes cancer and high cholesterol levels. And diabeties can also be an example from eating too much
