Both parents must be carriers for their child to develop it
Makes absorbing nourishment from food difficult
Thick mucus in lungs
Causes chest infecetions and respiraorty issues
Can be treated by physiotherapy, drugs and a special diet
Affects development because not abosribing the right nutrients will result in abnormal growth
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BRITTLE BONE DISEASE
Inherited but can also be caused by a genetic mutation
Bones do not develop the right amount of protein
Puts individuals at high risk of breaking their bones
Can be treated by physiotherapy, assitive equiptment and drugs
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PHENYLKETONURIA (PKU)
Genetic disorder
Prevnts break down of the amino acid Phenylalanine
Large amounts of the amino acid causes brain damage
Causes seizures, tremours, shaking, studnted growth, hyperactivity, skin conditons (such as eczema) and odouress breath, skin and urine
If untreated it leads to disability and/or death
Can be treated by medication and diets
Affects cognitive development because it causes brain damage
Affects physical development because it prevents certain foods from being eaten, foods that provide nutrients
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HUNTINGTONS DISEASE
Often develops at 35-55 years
An inherited neurodegenerative disorder
Damages nerve cells in the brain
Signs:
severe mood swings and erratic behaviour
psychiatric problems
problems with movement, behaviour and cognitive abilities
irritability/ fidgety movements
changes in personality
Can be treated with drugs
Means teh idndividual has trouble socialising becasue their mood,behavour and persoanlity changes
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KLINEFELTER SYNDROME
Around 1 in 600 boys born with the condition
An extra chromosone acquired after conception (not inherited)
Slows down milestones
Includes having undescended testicles from birth, weak muscles, mild learning difficulty, lack of testosterone, high rates of dyslexia and dyspraxia
Can treat the low levels of testosterone with medication
Reprocutive system will not work porperly and this could lead to low self-confidence, embarassment and bullying. Which in turn could lead to isolation.
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DOWN'S SYNDROME
Genetic condition caused by an extra chromosone on pair 21
Sufferers have a life expectancy of 50-60 years, but some have lived to reach 70
Leads to varying levels of learning diabilities
Most sufferers have flattened facial features, small head, small ears and small mouth, protruding tounge, upwards slanting eyes and a short neck
No treatment for the condition but can control associated medical issues
Learning difficulty affects cognitive development. Physcial dvelopment is affected because features form differently.
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COLOUR BLINDNESS
Genetic condition
Abnormality in the retina, that can be caused by diabetes and multiple sclerosis and the ageing process
True colour blindness is rare
Colour defieciency is difficulty distinguishing between colours
Can be improved with corrective lenses/contact lenses
May affect emotional development because they may be insecure about their blindness
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DUSCHENNE MUSCULAR DYSTROPHY
Inherited genetic condition
Muscles weaken which leads to disability
Causes health problems with heart and lungs
Progressive severe condition
Inherited on female gene but only passed to male offspring
Genetic mutation on the X chromosone that prevents the body producing Dystrophin (muscle protein)
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