B2 - Genetic factors that affect development Flashcards
(43 cards)
Name conditions caused by dominant genes
- Brittle Bone Disease
- Huntingdon’s disease
Explain brittle bone disease
- Osteogenesis imperfecta is a genetic condition present from birth.
- Its primary feature is fractures usually caused by minimal impact.
- Osteogenesis Imperfecta is a defect where collagen (the protein that is responsible for bone structure) is missing, reduced or of low quality.
So it’s not enough to support the minerals in the bone.
- This makes the bone weak, which in turn makes the bones easy to fracture.
What are the symptoms of brittle bone disease?
Symptoms include:
- Fractures can occur with minimal force - this varies from child to child.
- Bones may have an altered shape, for example, they may be shortened or bowed.
- The whites of the eye may appear more blue or grey than normal.
- Joints can be hyper-mobile or very flexible.
- Some degree of joint or bone pain may be present.
- Problems with formation of teeth (detinogenesis)
- Children with OI may tire easier than other children.
- Hearing problems are known to affect people with OI usually after puberty.
- Children with OI tend to be shorter than other children.
How can brittle bone disease be treated?
- The majority of patients with mild or moderate OI are treated with physiotherapy and management of symptoms as they occur.
- The main medications used are called pamidronate and zoledronic acid. Both are a type of bisphosphonate, which is a medicine that prevents loss of bone mass.
What are the P,I,E & S impacts of brittle bone disease?
- Physical: have hypermobile (very flexible) joints:- this means that they are more prone to sprains and may have weaknesses around their joints. Wearing supportive shoes and trainers rather than plimsolls.
- Intellectual: Could cause cerebral atrophy, hydrocephalus and cerebellar hypoplasia.
- Emotional: problems with self esteem and self concept. Caring for a child with OI can put a strain on marriage.
- Social: tend to struggle with friendships and may be in hospital a lot so they miss out on making connections/relationships.
Explain Huntingdon’s disease.
- Huntingdon’s disease is a condition that stops parts of the brain from working properly overtime. Its 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.
Symptoms of Huntingdon’s disease
- difficulty concentrating and memory lapses.
- depression.
- stumbling and clumsiness.
- involuntary jerking or fidgety movements of the limbs and body.
- mood swings and personality changes.
- problems swallowing, speaking and breathing.
- difficulty moving.
How can Huntington’s disease be treated?
- There’s no cure for Huntington’s disease but medication and therapies can help treat some of the symptoms.
- Speech and language therapy and occupational therapy can help with communication and day to day living.
- Regular exercise is also very important.
What are the P, I, E & S impacts of Huntingdon’s disease?
- Physical: Slurred speech and problems with swallowing, eating , speaking and especially walking.
- Intellectual: Decline in thinking and reasoning skills, memory, concentration, judgement, and ability to plan and organise.
- Emotional: lack of emotions and not recognising the needs of others . Periods of aggression, excitement, depression, antisocial behaviour and anger.
- Social: discrimination, lack of understanding and social isolation.
Name conditions caused by recessive genes
- Cystic Fibrosis
- Phenylketonuria
- Duchenne Muscular Dystrophy
Explain Cystic Fibrosis
- Cystic Fibrosis is an inherited condition that causes sticky mucus to build up in the lungs.
- This causes lung infections and problems with digesting food.
- Most cases of cystic fibrosis are picked up at birth using the newborn screening heel prick test.
- Symptoms usually start in early childhood and vary from child to child, but the condition gets slowly worse over time - lungs and digestive system become increasingly damaged.
- Life expectancy is shortened for those with cystic fibrosis.
Symptoms of Cystic Fibrosis
- Recurring chest infections.
- Wheezing, coughing, shortness of breath and damage to the air way.
- Difficulty putting on weight and growing.
- Yellowing of the skin, whites of eyes. (Jaundice).
- Diarrhoea, constipation, or large smelly faeces.
- A bowel obstruction in newborn babies (meconium ileus) - surgery may be needed.
How can cystic fibrosis be treated?
Cystic fibrosis isn’t curable but it can be treated in a number of ways such as:
- antibiotics to prevent and treat chest infections.
- medicines to make the mucus in the lungs thinner and easier to cough up.
- medicines to widen the airways and reduce inflammation.
- special techniques and devices to help clear mucus from the lungs.
P, I, E & S impacts of Cystic Fibrosis
- Physical: poor lung function, frequent and persistent lung infections and the inability to effectively digest food - particularly fats.
- Intellectual: cognitive deficits/cognitive impairment. Falling behind in school due to flare ups of Cystic Fibrosis spent in hospital.
- Emotional: embarrassment/low self esteem, guilt from the parents - feel as though it’s their fault. Increased anxiety/depression.
- Social: barriers to forming relationships, a lack of independence.
Explain Phenylketonuria
- Phenylketonuria is a rare but potentially serious inherited disorder.
- Our bodies break down the protein in foods - such as meat and fish, into amino acids that 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 Phenylketonuria cannot break down the amino acid phenylanine, which then builds up in their blood and brain. This can lead to brain damage.
- At around 5 days old, babies are offered newborn blood spot screening -> involves pricking the baby’s heel to collect blood to test.
- If its confirmed, treatment is given straight away.
Symptoms of Phenylketonuria
- Doesn’t usually cause any symptoms if treatment is started early,
- Without treatment, it can lead to brain damage + nervous system damage -> can cause learning disabilities.
Symptoms of untreated PKU include:
- Behavioural difficulties - temper tantrums, episodes of self-harm.
- Fairer skin, hair and eyes - than siblings who don’t have the condition.
- Eczema
- Repeatedly being sick
- Tremors/Jerking movements in arms and legs
- Epilepsy
- Musty smell to the breath, skin and urine.
How can Phenylketonuria be treated?
- A lifetime diet with very limited intake of foods with phenylalanine.
- Taking a PKU formula - a special nutritional supplement - for life to make sure that you get enough essential protein (without phenylalanine) and nutrients that are essential for growth and general health.
P, I, E & S impacts of Phenylketonuria
Physical: low birth weight, slow growth, small head. Skin rashes, eczema. Reduced mobility due to tremors.
Intellectual: Severe intellectual disability and irreversible brain damage.
Emotional: Stress and anxiety about dietary management, impact of lapses in adherence to the diet, depression.
Social: Social withdrawal, poor self esteem, less social competence.
Explain Duchenne Muscular Dystrophy
- Duchenne Muscular Dystrophy is a muscle wasting condition that causes progressive muscle weakness. It usually only affects boys and those assigned male at birth.
- It’s caused by a lack of protein called dystrophin. This causes muscle fibres to break down.
- They’re replaced by fibrous or fatty tissues that cause the muscle to gradually weaken.
- DND is a severe type of MD and often shortens life expectancy.
- More people with DMD will reach adulthood. However, they are more likely to die from heart or respiratory failure before or during their 30’s.
Symptoms of Duchenne Muscular Dystrophy
Symptoms don’t usually appear until they’re between 1 and 2 years old:
- Difficulties running, jumping and climbing stairs.
- Difficulty getting up from the floor.
- A waddling gait (walking on toes with a lower arched back)
- Tendency to fall more than other children.
- Learning and behavioural difficulties.
- Learning to speak later than usual.
- Difficulty walking as fast/as far as other children.
How can Duchenne Muscular Dystrophy be treated?
Treatments:
- low-impact exercise, such as swimming.
- physiotherapy, which can be useful for maintaining muscle strength.
- preserving flexibility and preventing stiff joints
- physical aids, such as a wheelchair, leg braces or crutches, which can help you stand and stay mobile
- occupational therapy, which can help maximise or improve your independence by using different techniques, changing your environment and providing any necessary assistive equipment
- steroid medicine
- corrective sugeries.
P, I, E & S impacts of Duchenne Muscular Dystrophy
- Physical: Difficulties running, jumping and climbing stairs. Difficulty getting up from the floor. A waddling gait.
- Intellectual: Increased risk for having an IQ that is below average. Deficits in verbal, short term and working memory.
- Emotional: Frustration, anger, self-pity and anxiety. Severe depression, sadness and anxiety.
- Social: difficult for the child to keep up with others during activities, sports or games.
Name Conditions which are caused by an abnormality to one’s chromosomes.
- Down’s syndrome
- Kleinfelter Syndrome
- Colour blindness
Explain Down’s Syndrome
- Down’s Syndrome is a genetic condition where a person is born with an extra copy of Chromosome 21. This means that they have a total of 47 chromosomes instead of 46.
- This can affect how their brain and body develop.
- People diagnosed with Down Syndrome have happy and healthy lives with supportive care.
