genetic predispositions

  • Created by: Ems9
  • Created on: 16-01-18 09:57

Cystic Fibrosis

Causes- caused by a faulty recessive gene

             both parents must be carriers- 1 in 4 chance 

Symptoms- thick sticky mucus in lungs

                  problems absorbing nutrients 

                  respiratory problems

                  chest infections  

Treatment- physio to remove mucus 

                 special diet- high in calories + protein 

                drugs- to absorb nutrients 

Developement- physical development- reduced growth due to less nutrients absorbed 

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Brittle Bone Disease

Causes- inherited but aloso through a genetic mutation 

            bones dont develop with right amount of collogen 

            different forms of condition 

Symproms- high risk of breaking bones

Treatment- physio 

                  assistive equipment 

                  drug treatements

Development- physical development- weak bones so harder to walk

                         social development- scared to go out so dont see people as often 

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Phenylketonuria ( PKU)

Causes- gentic disorder, prevents child from breaking down amino acid called phenylalanine

             found in meat, milk, eggs

             if eaten, build up of harmful stubstance casuing brain damage

             screened at birth using heel ***** test 

Symptoms- seizures, tremours, stunted growth, hyperactivity, skin conditions, musty oder of                               breath, skin and urine

Treatment- starts straight away

                  special diet + medication

                  causes death if untreated 

Development- physical development- stunted growth 

                        cognitive development- damges the brain 

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Huntington's Disease

Causes- develops at any ages, mainly 35-55

               inherited, neurodegenerative 

              damages nerve cells in the brain 

              affects muscle coordination, mental decline

              brain damage gets progressively worse 

Symptoms- early- mood swings, irritability, fidgety, changes in personality and behaviour 

                  later- psychiatric problems, problems with feeding and communication, erratic                                           behaviour, impacts movement and cognition 

Treatment- drug treatment for symptoms

Development- cognitive development- cognitons decreases

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Klinefelter Syndrome

Causes- referred to as XXY

             1 in 600 in the uk diagnosed 

             extra X chromosome aquired after conception 

Symptoms- slow in reaching milestones, poor muscle power, delayed communication, higher                              rates of dyslexia + dyspraxia, widening of hips , low testosterone levels 

Treatment- medication for low testosterone levels 

Development- social development- low self confidence, embaraced by condition, socialises less

                        physical development- take longer to reach milestones  

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Down's Syndrome

Causes- genetice conditions, extra chromosome 21 

             one off genetic mistake in sperm or egg 

             750 in uk born with Down's 

             higher risk of Down's if the mother is over 45 

             life expectancy 50 to 60 

Symptoms- varying level of learning disability 

                    physical features- flatterened facial features, small head, protruding tongue,                                                              upward slanting eyes 

                   vission, hearing + heart problems 

Treatment- no treatment, treatment for medical issues associated with Down's

Development- social development- people may discriminate, socialise less 

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Colour Blindness

Causes- genetic condition, result of abnormality in retina, aging, diabetes, MS  

               true colour blindness- no colour persection, very rare

               colour vision deficiency- difficulty distinguishing between colours 

Symptoms- difficulty seeing colours 

Treatment- corrective glasses/ contact lenses 

Development- emotional development- upsetting, missing out on colour 

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Duchenne Muscular Dystrophy

Causes- inherited genetic condition, progressive  

             muscles weaken leading to disability

             duchenne- most common and severe form 

             inherited on the female gene, passed onto males, on the X chromosome 

            prevents body producing dystrophin, interfers with function of muscle fibres 

Symptoms- impacts gross motor

                  heart + lung problems 

Treatment- drugs- steriods to strengthen 

Development- physical development- takesl onger to learn to walk, weaker muscles 

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