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
