b2 - genetic factors that affect development Flashcards
1
Q
cystic fibrosis
A
- caused by a faulty recessive gene, meaning that both parents must be carriers, presents a 1 in 4 chance that child will be born with CF.
- defective protein is produced, causes lungs to become clogged with sticky mucus
- people may have problems absorbing nourishment from food and may suffer from respiratory and chest infections.
- physiotherapy can help to clear mucus from lungs
- various drugs can help to control breathing and throat and lung infections
- special diet and drugs helps with food absorption
- in the future, may become possible to use genetic therapy to replace faulty gene.
2
Q
brittle bone disease
A
- may be passed from parents but can also result from a genetic mutation
- children born with BBD are at higher risk of fractures or breaks, as bones develop without the right amount or type of protein called collagen
- can often be helped through physiotherapy, assistive equipment or drug treatments to strengthen bones
3
Q
phenylketonuria (PKU)
A
- prevents a child from breaking down phenylalanine, an amino acid found in foods such as milk, meat and eggs
- consumption leads to a build up of harmful substances that damage brain development
- cannot be cured but all UK babies are screened at birth via a heel prick blood test
- if issues are found, treatment will be started immediately
- untreated PKU leads to severe learning disability and death
4
Q
huntingtons disease
A
- can develop at any age but often begins between 35-55 years
- inherited neurodegenerative disorder that causes progressive damage to certain nerve cells in the brain
- can affect muscle coordination, cause mental decline and behavioural changes
- symptoms depend on the person but generally get worse overtime
- earlier signs may be mistaken, such as mood swings, irritability and fidgety movements
- overtime, indiviudal becomes increasingly dependent on other people for support
5
Q
klinefelter syndrome
A
- hard to identify as symptoms aren’t always obvious
- 1 in 600 boys born with this condition, not inherited
- signs include slowness in reaching milestones and undescended testicles, as well as delayed communication and a passive personality
- some boys experience minor learning difficulties, higher rates of dyslexia and dyspraxia, extra growth spurts
- testes do not increase in size, lack of testosterone so lower sex drive and fertility
6
Q
downs syndrome
A
- genetic condition as a result of an extra chromosome
- causes varying levels of learning disabilities, physical features and other medical issues
- usually not inherited, limited life expectancy of around 50-70 years
7
Q
colour blindness
A
- affects about 4.5% of the population, mostly men
- varies in severity, many people do not realise they are colourblind and live healthy lives without treatment
- inherited colour blindness is the result of an abnormality in the retina
- ageing process and certain medication can also affect colour recognition
- usually doesn’t lead to long term problems but providers should take it into consideration and deliver appropriate colour schemes when using printed information
8
Q
duchenne muscular dystrophy
A
- inherited conditions that gradually weaken muscles, leading to disability, caused by changes in genes that look after the structure and function of muscles
- inherited on female gene, only passed to male offspring
- prevents body from producing dystrophin which builds and repairs muscles
- weakness isn’t noticeable at birth but may be during early childhood, usually diagnosed by age of 5 and will likely have to use a wheelchair by age of 12
- fine motor skills are less affected than gross motor skills
- men face severe problems by late teens as heart and lung muscles weaken
- survival beyond 30 is rare but research and medical advances are increasing this
9
Q
susceptibility to disease
A
- most diseases involve environmental factors and the complex interaction of genes
- people may not be born with diseases but genetic make up may make them susceptible to developing it in later life
10
Q
diseases that are more likely to occur in susceptible individuals - cancer
A
- most cancers are attributed to environmental and lifestyle factors, for example lung cancer is closely linked to tobacco use
- estimated that over 40% of cancers can be prevented by making different lifestyle choices or avoiding environmental factors such as sun exposure
- some people are more at risk due to inherited gene faults, such as breast, bowel, womb and kidney cancer
11
Q
diseases that are more likely to occur in susceptible individuals - diabetes
A
- lifestyle and environmental factors are more likely to affect the probability of type 2 diabetes
- genetic risk of developing type 1 diabetes is higher if either or both parents have diabetes
- risk is almost 90% if you have an identical twin who has diabetes
12
Q
diseases that are more likely to occur in susceptible individuals - high blood cholesterol
A
- lifestyle factors such as unhealthy diet or smoking increase risk of having high cholesterol levels
- cholesterol is a fatty substance, too much causes a build up in artery walls which can cause cardiovascular diseases
- an inherited condition called familial hypercholesterolaemia, caused by gene mutation
- can lead to early heart problems if untreated
13
Q
biological factors that affect development - foetal alcohol syndrome
A
- happens when mothers drink alcohol whilst pregnant
- children with this condition may have developmental and physical defects which can cause life-long effects
- tend to be smaller, have smaller heads caused by poor brain development
- may also have heart defects, learning difficulties and neurological problems
14
Q
biological factors that affect development - maternal infections during pregnancy
A
- pregnant woman exposed to infections such as rubella or cytomegalovirus, could affect foetus
- rubella is dangerous during first month of pregnancy, baby may be born with impaired hearing or eyesight or a damaged heart, most woman vaccinated against this
- cytomegalovirus (CMV) spreads via bodily fluids, can be passed to foetus and is referred to as congenital CMV
- 1/2 in 200 babies born with CMV, around 13% of those born with it have effects such as deafness and learning difficulties, 14% will develop this later on
15
Q
biological factors that affect development - lifestyle and diet choices during pregnancy
A
- babies affected by what mothers eat during pregnancy and breast feeding, if mother eats a lot of sugar than can cause high cholesterol and later heart disease in the baby
- malnutrition during pregnancy may lead to a lifetime of poor health for the child
- FSA recommends that mothers should eat plenty of fresh fruit and veg, protein rich foods, lots of fibre and foods containing calcium
- should also avoid alcohol and too much caffeine as this can result in a low birth weight
