human lifespan development (b2)

Question 1

genetics

Answer 1

• each of our cells contain 23 pairs of chromosomes
• 1 of each part from your mother, one from your father
• each chromosome contains genes, which determine your makeup (eye colour, height)

Question 2

genetic predisposition

Answer 2

genetic predisposition = The possibility that you will develop a certain condition based on inherited genes you inherit from your parents

• environmental factors can alter how likely you are to get a condition. if you are genetically predisposed to it, there is support and treatment available for these conditions to allow individuals to develop and lead life as healthy as possible
• however some inherited conditions can have serious consequences for a child’s growth and development

Question 3

cystic fibrosis (definition)

Answer 3

cystic fibrosis is where you produce a defective protein that can cause the lungs to become clogged with thick, sticky mucus

Question 4

cystic fibrosis (cause)

Answer 4

• A faulty recessive gene (thought to be carried 54% of the UK)
• it results in a defective protein being produced that can cause the lungs to become clogged with thick sticky mucus

Question 5

cystic fibrosis (symptoms)

Answer 5

• problems absorbing nourishment from food
• respiratory problems
• chest infections

Question 6

cystic fibrosis (care/treatment)

Answer 6

• physiotherapy helps to clear mucus from the lungs
• various drugs help control breathing and throat and lung infections
• a special diet and drugs help with food absorption
• in the future, gene therapy may be used to replace the faulty gene

Question 7

brittle bone disease (definition)

Answer 7

• children born with brittle bone disease have bones that develop without the right amount or type of protein called collagen
• they are at high risk of fracturing or breaking their bones easily

Question 8

brittle bone disease (treatment)

Answer 8

• physiotherapy
• assistive equipment
• drug treatments to help strengthen their bones

Question 9

phenylketonuria (definition)

Answer 9

• A rare genetic disorder that prevents a child from breaking down phenylalanine (an amino acid found in milk, meat and eggs)
• if a child with PKU eat these foods, there is a buildup of harmful substances in the body that damages brain development
• all babies in the UK are screened for it at birth
• a baby born with PKU wouldn’t meet developmental milestones as their brain becomes damaged resulting in severe learning difficulties and death

Question 10

phenylketonuria (treatment)

Answer 10

• treatment begins with a special diet including tyrosine supplementation and medication to prevent the buildup of harmful substances
• tyrosine is used to improve alertness, attention and focus. it produces important brain chemicals that help nerve cells communicate and may even regulate mood
• if a child has PKU they may take tyrosine supplements

Question 11

huntington’s disease (definition)

Answer 11

• Huntington’s disease is an inherited neurodegenerative genetic disorder that causes progressive damage to certain nerve cells in the brain
• it can affect muscle coordination and cause mental decline of behavioural changes
• The brain damage gets progressively worse over time with perception, awareness, thinking, and judgement affected

Question 12

huntington’s disease (symptoms)

Answer 12

• impulsivity
• balance problems
• decreased creativity
• slow movement/eye movements
• episodic anger/irritability
• depression and anxiety
• trouble swallowing
• OCD psychosis
• decreased fine motor tasks
• decreased organising, concentrating, and prioritising skills
• restlessness/fidgeting
• decreased multitasking skills
• chorea (voluntary movements)

Question 13

huntington’s disease (treatments)

Answer 13

• you can’t treat Huntington’s but you can help to reduce some of the problems associated with it
• medicines include antidepressants, medicines to ease mood swings and irritability, and medicines to reduce involuntary movement
• help with everyday tasks include; occupational therapist - recommend equipment to help you move around more easily (example stairlift), speech and language therapist - provide alternate ways of communicating and ways to make food easier to chew and swallow, and physiotherapy - to help with movement problems

Question 14

klinefelter syndrome (definition)

Answer 14

• Klinefelter syndrome is where boys and men are born with an extra X chromosome (XXY)
• boys and men with Klinefelter syndrome are still genetically male and often will not realise they have the extra chromosome but occasionally it can cause problems that may require treatment
• klinefelter syndrome is quite common, affecting around one in every 660 males

Question 15

klinefelter syndrome (causes)

Answer 15

• klinefelter syndrome isn’t directly inherited - the additional X chromosome occurs as a result of either the mothers egg or the father sperm having the extra X-chromosome
• this chromosome carries extra copies of genes which interfere with the development of the testicles and mean they produce less testosterone than usual
• this change in the egg or sperm seems to happen randomly. if you have a son with the condition, the chances of this happening again a very small. the risk of a woman having a son with klinefelter syndrome may be slightly higher if the mother is over 35

Question 16

Klinefelter syndrome (Symptoms)

Answer 16

• it doesn’t usually come with any obvious symptoms early in childhood and even the latest symptoms may be difficult to spot
• In babies and toddlers - learning to sit up, crawl, walk, and talk later than usual, being weak or quieter, more passive than usual
• in childhood - low self-confidence, problem with reading, writing, spelling and paying attention, Low energy levels and difficulty socialising
• in teenagers - growing taller than expected, broad hips, poor muscle tone, reduced facial and body hair, small penis and testicles, enlarge breasts
• in adult hood - infertility and low sex drive

Question 17

Health problems associated klinefelter disease

Answer 17

men with klinefelter syndrome are at a slightly increased risk of developing health problems including:

• type 2 diabetes
• weak and fragile bones (osteoporosis)
• cardiovascular disease and blood clots
• autoimmune disorders (where the immune system mistakenly attacks the body) such as lupus
• an underactive thyroid gland
• anxiety, learning difficulties, and depression, although intelligence is usually unaffected
• male breast cancer, although this is very rare

Question 18

Klinefelter disease (treatment)

Answer 18

• testosterone replacement therapy
• speech and language therapy
• educational/behavioural support
• occupational therapy to help with coordination problems
• physiotherapy to help build muscle and increase strength
• psychological support any any mental health issues
• fertility treatment (donor, or possibly intracytoplasmic sperm injection, where the sperm removed during a small operation are used to fertilise egg in a laboratory)
• breast reduction surgery to remove excess breast tissue

Question 19

down syndrome (d
characteristics)

Answer 19

• floppiness (hypotonia)
• eyes that slant upwards and outwards
• a small mouth with a tongue sticking out
• a flat back of the head
• below average weight and length at birth
• their palm may only have one crease across it
• however, children with down syndrome will look more like their family members than other children who have down syndrome
• they will also have different personalities and abilities. they will have some degree of learning disability but this will be different for each person

Question 20

down syndrome (causes)

Answer 20

• down syndrome is usually caused by an extra chromosome in the baby cells. in most cases this isn’t inherited, it’s simply the result of a one off genetic change in the sperm or egg
• there are small chance of a child with down syndrome with any pregnancy but the likelihood increases with the age of the mother
• for example, a woman who is 20 has about one in 1500 chance of having a baby down syndrome, while a woman who is 40 has a one in 100 chance
• there is no evidence of anything done before during pregnancy increases or decreases the chance having a baby down syndrome

Question 21

Living with Down syndrome

Answer 21

Although there is no cure for down syndrome, there are support able to help children into conditionally to Hilsea for fitting lies this includes:

• access to good healthcare (specialist)
• speech therapy, physiotherapy, and home teaching
• support groups such as the down syndrome Association who can put you in touch with the families who have children down syndrome
• lots of people with Down’s syndrome able to leave home, have relationships, work, and lead largely independent lives

Question 22

Health problems linked to Down’s syndrome

Answer 22

people dancing drome are more likely to have such a health problems including:

• heart disorders such as congenital heart disease
• hearing and vision problems
• thyroid problems, such as an underactive thyroid gland
• recurrent infections such as pneumonia
• your child may be checked by a paediatrician more often than other children to pick up problems as early as possible

Question 23

Colourblindness (definition)

Answer 23

• colourblindness affects approximately one in 12 men and one in 200 women in the world
• most colourblind people are able to see things clearly as other people but they are on able to fully see a red, green or blue light. theres different types of colour blindness and there are extremely rare cases where people are unable to see any colour at all
• A red/green colour blind person will confuse a blue and a purple because they can’t see the red element of the colour purple

Question 24

colourblindness (causes)

Answer 24

• colourblindness is usually a genetic condition
• Red/green and blue colour blindness is usually passed down form your parents
• The gene which is responsible for the condition is carried out on the X chromosome and this is the reason why many more men are affected than women

Question 25

types of colourblindness – trichromacy

Answer 25

Normal colour vision uses all three types of light cones correctly and is known as trichromacy. people at normal colour vision are known as trichromats

Question 26

types of colourblindness – anomalous trichromacy

Answer 26

• people with faulty trichromatic vision will be colourblind to some extent and are known as anomalous trichromats.
• in people with this condition, all of the three types are usually to perceive light colours but one type of cone perceived light slightly out of alignment so that there are three different types of effect produced dependenting upon which cone type is faulty
• The are anomalous conditions are protanomaly, which is a reduced sensitivity to red light, deuteranomaly which is a reduced sensitivity to green light and is the most common form of colourblindness

Question 27

types of colourblindness - monochromacy

Answer 27

people with this can see no colour at all and they will consist of different shades of grey ranging from black to white. rather like only seeing the world from an old black-and-white television set. it is extremely rare occurring only in approximately one person in 33,000 and its symptoms can make life very difficult. usually someone with this will need to wear dark glasses inside in normal light conditions

Question 28

Colourblindness (treatment)

Answer 28

• there is currently no treatment for inherited colourblindness
• colour filters or contact lenses can be used in some situations to enhance the brightness between some colours and these are occasionally used in the workplace, but many colourblind people find these actually confuse them rather than help

Question 29

duchenne muscular dystrophy (definition)

Answer 29

• DMD is a genetic disorder characterised by progressive muscle degeneration and weakness. it is one of nine types of muscular dystrophy
• DMD is caused by an absence of dystrophin, a protein that helps muscle cells intact. symptoms onset is in early childhood, usually between ages three and five. the disease primarily affects boys but in very cases, it can affect girls

Question 30

duchenne muscular dystrophy (symptoms)

Answer 30

muscle weakness can begin as early as age 3 first effecting the muscle of the hips, pelvic area, thighs and shoulders, and later the skeletal (voluntary) muscles in the arms, legs and trunk. The calves are often enlarged. by the early teens, the heart and respiratory muscles are also affected

Question 31

duchenne muscular dystrophy (medical management)

Answer 31

• braces, stand in frames and wheelchairs
• cardiac care
• contractures
• diet – high in fluid and fibre with fresh fruit and vegetable dominant
• exercise
• medications - corticosteroids
• physical and occupational therapy
• respiratory care
• spine straightening surgery

Question 32

susceptibility to diseases

Answer 32

• most diseases involve many genes in complex interactions, in addition to environmental influences
• an individual may not be born with a disease but may be at high risk of acquiring it. This is called a genetic predisposition or susceptibility
• The genetic‘s susceptibility to a particular disease due to the presence of one or more genetic mutations, and/or with a combination of alleles need not necessarily be abnormal
• in some cases, such as cancer, individuals are born with genes that are altered by lifestyle habits or exposure to chemicals

Question 33

cancer (definition)

Answer 33

• cancer is a condition where cells in a specific part of the body grow and reproduce uncontrollably. The cancer cells can invade and destroy surrounding healthy tissue, including organs
• more than one in three people develop some form of cancer during their lifetime. In the UK, the four most common types of cancer are; breast cancer, lung cancer, prostate cancer, and bowel cancer
• there are more than 200 different types of cancer, and each is diagnosed and treated in a particular way

Question 34

Cancer (spotting signs)

Answer 34

• changes to your body’s normal processes or unusual, unexplained symptoms can sometimes be an early sign of cancer
  symptoms that need to be checked by a doctor include:
• a lump that suddenly appears on your body
• unexplained bleeding
• changes to your bowel habits

Question 35

cancer (reducing your risk)

Answer 35

• healthy eating
• taking regular exercise
• not smoking
• no drinking too much alcohol
• avoiding exposure to sun, asbestos or dust

Question 36

Cancer (treatment)

Answer 36

• chemotherapy – powerful cancel killing medication

- Radiotherapy – the control use of high energy x-rays

Question 37

diabetes (definition)

Answer 37

diabetes is a lifelong condition that causes a person‘s blood sugar levels to become too high. There are two main types of diabetes:
– Type 1 diabetes – where the bodies immune system attacks and destroys the cells that produce insulin
– Type 2 diabetes – where the body doesn’t produce enough insulin, or the body cells don’t react to insulin
– During pregnancy, some women have such high levels of blood glucose that their body is unable to produce enough insulin to absorb it all. this is known as gestational diabetes

Question 38

Diabetes (symptoms)

Answer 38

– Frequent or excess urination
– Frequent or excessive thirst
– Feeling tired throughout the day
– Feeling hungry quite often
– Slow healing of wounds/cuts
– Difficulty to heal infections
– Darkening of skin
– Blurred vision
– Unexplained weight loss

Question 39

Diabetes (causes)

Answer 39

– The amount of sugar in the blood is controlled by hormone called insulin which is produced by the pancreas
– When food is digested and enters your bloodstream, insulin moves glucose out of the blood and into the cells, where it’s broken down to produce energy
– However, if you have diabetes, your body is unable to break down glucose into energy. This is because there’s either not enough insulin to move the glucose, or the insulin produced doesn’t work properly
– Although there is no lifestyle changes you can make to lower your risk of type 1 diabetes, Type 2 diabetes is often linked to being overweight

Question 40

diabetes (treatment)

Answer 40

– In type 1 diabetes your pancreas no longer makes insulin, so you have to inject it to control your blood glucose levels
– In Type II diabetes you can alter your diet and lifestyle to help your body control the diabetes, you may also need to take medicines such as metformin to help lower blood sugar levels

Question 41

High blood cholesterol (definition)

Answer 41

– Cholesterol is a fatty substance in our blood, which is produced naturally in the liver. Everyone has cholesterol. We need it to stay healthy because every cell in your body uses it. Some of this cholesterol comes from the food that we eat
– There are four main types of cholesterol – one is good and the other is bad. Having too much bad cholesterol can cause problems. It can clog up the arteries carrying blood around your body. This can cause heart and circularity diseases like a heart attack or stroke

Question 42

High blood cholesterol (causes)

Answer 42

things you can control 
– Eating a lot of saturated fat
– Smoking
– Not being active enough
– Having too much body fat, especially around your middle
things you can’t control
– Getting older
– If you’re male or female
– Ethnic background
– Familial hypercholesterolemia and other inherited diseases

Question 43

High blood cholesterol (what you can do to lower it)

Answer 43

– Eat a healthy balance diet – eating more fruit, vegetables and whole-grain is better than eating foods high in saturated fat and sugar
– Being active for at least 30 minutes a day
– Stop smoking

Question 44

biological factors that affect development

Answer 44

– Foetal alcohol syndrome
– Maternal infections during pregnancy
– Lifestyle/diet during pregnancy
– Congenital defects

Question 45

foetal alcohol syndrome (Definition)

Answer 45

if a woman drinks alcohol during pregnancy, she risks damaging her baby. Sometimes this can result in mental and physical problems in the baby, called foetal alcohol syndrome
– Alcohol in the mothers blood passes to her baby through the placenta
– The baby can’t process alcohol as well as the mother can, which means it can damage cells in the brain, spinal-cord, and other parts of their body, and disrupts the development in the womb

Question 46

foetal alcohol syndrome (symptoms/features)

Answer 46

– Eyes; small, slanted downwards, drooping eyelid, wide set
– ears; large, low set (below eyes), posterior rotation (Towards back of head), poorly formed concha (hollow of external ear)
– nose; Upturned, shortened, hypoplasia of
nasal bridge
– Mouth; wide, thin upper lip, cleft palate, cleft lip, poorly formed teeth

Question 47

maternal infections during pregnancy (Chickenpox)

Answer 47

– Before 28 weeks pregnant: there is a small risk your baby could develop foetal varicella syndrome. FVS can damage the baby skin, eyes, legs, arms, brain, bladder or bowel
– Between weeks 28 and 36 of pregnancy: The virus stays in the babies body but doesn’t cause any symptoms. However, it may become active again in the first few years of the babies life, causing shingles
– After 36 weeks of pregnancy: your baby may be infected and could be born with chickenpox

Question 48

maternal infections during pregnancy (CMV)

Answer 48

• cytomegalovirus is a common virus it’s part of the herpes group, which can also cause cold sores and chickenpox
  – It can cause problems for unborn babies, such as hearing loss, visual impairment or blindness, learning difficulties and epilepsy

Question 49

Group B streptococcus

Answer 49

this can cause life-threatening problems including blood poisoning (septicaemia) , Infections of the lung (pneumonia) and infections of the lining of the brain (meningitis). In the long term it can cause deafness, blindness, learning difficulties and cerebral palsy

Question 50

Maternal infections during pregnancy (infections transmitted by animals)

Answer 50

– Cat faeces may and sign toxoplasma – an organism that causes toxoplasmoses infection. Toxoplasmoses can damage your baby
– Lambs and sheep can carry an organism called chlamydia psittaci, Which is known to cause miscarriage in ewes. They also carry toxoplasma
– Pigs can be a source of hepatitis e infection. The infection is dangerous in pregnant women, so avoid contact with pigs and pigs faeces

Question 51

maternal infections during pregnancy (hepatitis B/hepatitis C)

Answer 51

– If you have hepatitis B or are infected during your pregnancy, you can pass infections onto your baby at birth
– The hepatitis C virus infects the liver

Question 52

maternal infections during pregnancy (herpes)

Answer 52

– Genital herpes infection can be dangerous for a newborn baby. Sometimes neonatal herpes will only infect the babies eyes, mouth or skin. In these cases, most babies will make a complete recovery with anti-viral treatment
– It can affect the skin, eyes, mouth, central nervous system, and/or even spread to the internal organs via disseminated disease which can cause organ failure and lead to death
– Nearly a third of infants with this type of neonatal herpes will die, even after they’ve been treated

Question 53

maternal infections during pregnancy (HIV)

Answer 53

– Current evidence suggests an HIV positive mother in good health and without symptoms of the infection is unlikely to be adversely affected by pregnancy
– However, HIV can be passed from a pregnant woman to her baby during pregnancy, birth or breastfeeding

Question 54

maternal infections during pregnancy (parvovirus b19/

rubella)

Answer 54

– Parvovirus b19 causes a characteristic red rash on the face. Parvovirus is highly infectious and can be harmful to the baby
– if you develop rubella (German measles) in the first four months of pregnancy, it can lead to serious problems including birth defects and miscarriage

Question 55

maternal infections during pregnancy (sexually transmitted infections/toxoplasmosis/Zika virus)

Answer 55

– STI’s can affect your babies health both during and after birth
– Toxoplasmosis infection through contact with cat faeces, which if you’re pregnant, the infections can damage your baby causing miscarriage, stillbirth, or damage the babies brain and other organs, particularly the eyes
– There is evidence the zika virus causes birth defects if a woman catches it when she’s pregnant. In particular, it can cause the baby to have a abnormally small head (microcephaly)

Question 56

diet during pregnancy (do not eat)

Answer 56

– Anything with a lot of vitamin A – only need a small amount to keep healthy, large amounts can harm an unborn baby. Avoid liver and liver problems (liver pâté and cod-liver oil supplements)
– Food which have high levels of listeria – can cause miscarriage, stillbirths or infections in the baby after birth. avoid undercooked meat and eggs (pre-cooked meats and preprepared meals) meals must be cooked until piping hot and egg should be cooked until the white and the yolk are solid. avoid foods that may contain raw eggs such as mayonnaise and mousse
– Mould ripened and soft cheeses such as brie, camembert, and blue veined cheeses

Question 57

Diet during pregnancy (do not eat continued)

Answer 57

– pâtés – including vegetable pâtés
– raw shellfish and raw fish as these may contain germs
- Unpasteurised milk (goats milk’
– Certain fish – eat at least two portions of fish per week with one being oily fish.
however, some types contain high levels of mercury which can damage the development of nervous systems of an unborn baby. You should not eat any shark, marlin or swordfish
– Limit tuna – eat no more than four medium-sized cans or two fresh tuna steaks per week

Question 58

Lifestyle during pregnancy (Caffeine and smoking)

Answer 58

– No more than 300 mg of caffeine per day, having lots of caffeine increases your risk of having a miscarriage and a baby born with low weight. however the risk is small
– Women who are pregnant should avoid smoking, due to the damage it can cause the unborn baby and the long-term effects on the health of your child after birth

Question 59

lifestyle during pregnancy (alcohol and exercise)

Answer 59

– Women who are pregnant should not drink alcohol as it can cause damage to a developing baby. at worst babies can develop a syndrome of severe abnormally is called foetal alcohol syndrome, in others, alcohol can cause problems for the baby such as poor growth, premature labour and physical or mental disability
– For most women it is important to do some regular physical exercise during pregnancy as part of living a healthy lifestyle. There are some circumstances in which this may need to be modified, and there are some sports which are best to avoid during pregnancy

Question 60

lifestyle during pregnancy (working and recreational drugs)

Answer 60

– If you think your job may pose a risk to a pregnancy then ideally you should discuss this with your employer before you become pregnant or soon as you become pregnant. Certain jobs and workplaces may pose a risk to a pregnancy, in particular to the early stages
– The effects of all the different types of recreational drugs on pregnancy are not fully known. However, there is an increasing amount of evidence to show that they are likely to pose a risk or damage to the baby

Question 61

Lost children pregnancy (animals and travel)

Answer 61

– Avoid contact with sheep and lambs at lambing time. this is because some lambs born carrying germs causing listeriosis, toxoplasmosis, and chlamydia
– It’s safe to travel during pregnancy. When in a car, where the seatbelt so the straps go above and blow your bump not across. most airlines won’t allow you to fly in the later stages because labour isn’t ideal in an aeroplane and it’s difficult to divert to the nearest hospital. Do not travel anywhere far from medical assistance and be careful where you travel due to infections you may pick up

Question 62

congenital defects (Definition)

Answer 62

– Most babies are born healthy, but when a baby has a condition that is present from birth, it is called a congenital disorder
– The most common and severe congenital defects are heart defects, neural tube defects and down syndrome
– A child with a congenital disorder may experience a disability or health problems throughout life

Question 63

Congenital defect (causes)

Answer 63

– Genetic inheritance
– socio-Economic factors (Lack of access to sufficient nutritious food during pregnancy)
– Environmental factors (working or living in polluted areas, exposure to chemicals or pesticides, excessive use of tobacco, alcohol and drugs during pregnancy)
– Infectious diseases (such as syphilis and rubella)

Question 64

congenital defects (the most common defects)

Answer 64

– Cleft lip and cleft palate
– Cerebral palsy
– Fragile X syndrome
– Down syndrome
– Spina bifida
– Cystic fibrosis
– Heart conditions