Development

Question 1

What is one of the most common and stable epigenetic marks?

Answer 1

5mC (methylation)

Question 2

How is gene expression different if a gene is methylated in the promoter region vs gene body?

Answer 2

Promoter - silenced

Gene body - expressed

Question 3

When do the 2 waves of methylation occur during development?

Answer 3

One when egg/sperm are being formed

One after fertilisation

Question 4

What effect do maternally imprinted genes usually have on growth?

Answer 4

Stimulate

Question 5

What effect do paternally imprinted genes usually have on growth?

Answer 5

Regulate

Question 6

Give an example of a maternally imprinted disorder

Answer 6

Prader-Willi

Constant hunger

Question 7

Give an example of a paternally imprinted disorder

Answer 7

Angelman syndrome

Happy, mental retardation

Question 8

What changes in DNA methylation occur in cancer?

Answer 8

Genome wide hypomethylation

CpG specific changes

Question 9

What is DOHAD?

Answer 9

Developmental origins of human disease hypothesis (exposure during development causes susceptibility later in life)

Question 10

How many babies have congenital anomalies?

Answer 10

1 in 33

Question 11

What are the most common congenital anomalies?

Answer 11

Heart defects
Neural tube defects
Downs syndrome

Question 12

What is the most common environmental cause (teratogen) of congenital anomalies?

Answer 12

Maternal medications

e.g. thalidomide, fetal vaproate syndrome

Question 13

What causes diabetic embryopathy?

Answer 13

Poorly controlled diabetes in mother

Question 14

Name 3 congenital infections

Answer 14

Zika virus
Rubella
CMV

Question 15

Name 2 deletion syndromes

Answer 15

Di George syndrome

Williams syndrome

Question 16

Name 2 autosomal dominant disorders

Answer 16

Noonan syndrome

Myotonic dystrophy

Question 17

What molecule in serum correlates with severity of a neural tube defect?

Answer 17

AFP

Question 18

When are CVS/amniocentesis done?

Answer 18

CVS after 11 weeks

Amniocentesis after 16 weeks

Question 19

What investigations are done on a newborn with a suspected disorder of sexual development?

Answer 19

Genetics
Internal and external genitalia exam
Biochemistry investigations

Question 20

How has management of DSD changed?

Answer 20

Less on intervention/surgery

More on hormone treatment

Question 21

What are the three categories of DSD?

Answer 21

1. 46 XX DSD
2. 46 XY DSD
3. Sex chromosome DSD

Question 22

What are 46 XX DSD disorders?

Answer 22

Disorders of ovarian development or of androgen excess

Question 23

What is 46 XX testicular DSD?

Answer 23

Phenotypically a male but genetically a female
Present after puberty
Treat with testosterone

Question 24

What is 46 XX gonadal dysgenesis?

Answer 24

Phenotypically a failure but failure of ovarian development

Question 25

What is fetal androgen excess?

Answer 25

Caused by congenital adrenal hyperplasia | Genetically female but male genitalia due to excess androgen

Question 26

What is a potential life threatening complication of fetal androgen excess?

Answer 26

Salt wasting | - child cannot make enough aldosterone and cortisol so cannot maintain fluid homeostasis

Question 27

What are 46 XY DSD disorders?

Answer 27

Disorders of testicular development and disorders of androgen synthesis/action

Question 28

What is complete androgen insensitivity syndrome? (AIS)

Answer 28

Body cannot respond to testosterone | Genetically a man but phenotypically a woman

Question 29

Why are contractions of the uterus during delivery of the placenta helpful?

Answer 29

Helps to stop PPH

Question 30

What is the cervix like during pregnancy?

Answer 30

Closed to stop ascending infection

Question 31

How is the cervix prepared for labour?

Answer 31

Inflammatory process mediated by hormonal changes (COX2 unregulated)

Question 32

Which drug is used to induce labour?

Answer 32

PGE2

Question 33

What happens to the resting membrane potential as gestation progresses?

Answer 33

Becomes more positive (myometrium more excitable)

Question 34

What happens to connexin proteins towards the end of pregnancy?

Answer 34

Upregulated More gap junctions Increased intercellular communication causes more powerful contractions

Question 35

What is the Ferguson reflex?

Answer 35

Reflex comprising the self-sustaining cycle of uterine contractions

Question 36

How is pre term technically defined?

Answer 36

Before 37 weeks

Question 37

Why might twins be delivered early?

Answer 37

Stress trigger Lack of space Early activation of physiological processes

Question 38

How is labour initiated in humans?

Answer 38

NO progesterone drop 'functional' progesterone withdrawal Increase in oestrogen concentrations

Question 39

What does breast milk contain?

Answer 39

``` Lipids Casein Whey Nitrogen Lactose Immune factors ```

Question 40

What are the 2 stages of lactation?

Answer 40

1. Production and storage of milk in alveoli | 2. Ejection of milk from alveoli to nipple

Question 41

At what point in pregnancy are breast alveoli ready to produce milk?

Answer 41

16 weeks

Question 42

How is lactation inhibited until the baby is born?

Answer 42

Progesterone and oestrogen suppress prolactin (these withdraw at onset of lactation)

Question 43

What is the effect of suckling on prolactin release?

Answer 43

Stimulates prolactin release

Question 44

How does suckling activate the neuroendocrine reflex?

Answer 44

Stimulates the production of vasoactive intestinal peptide (VIP) and reduces dopamine release --> more prolactin

Question 45

What role does oxytocin have in breastfeeding?

Answer 45

Suckling stimulates oxytocin release | Oxytocin causes myoepithelial cells around the alveoli to contract forcing the milk out

Question 46

What are the 5 classes of child development skills?

Answer 46

``` Motor Perceptual Language Cognitive Social ```

Question 47

What are critical periods in development?

Answer 47

Defined periods where appropriate stimulation is required to ensure development

Question 48

What is the hierarchy for brain development?

Answer 48

1. Cerebellar/brainstem 2. Posterior 3. Anterior

Question 49

When do brain development growth spurts occur?

Answer 49

24-25 weeks gestation Early infancy 7-10 years Early adolescence

Question 50

What are the TORCH infections during pregnancy?

Answer 50

``` Toxoplasmosis Others Rubella Cytomegalovirus Herpes ```

Question 51

How many adverse childhood experiences predict poorer health outcomes?

Answer 51

4 or more

Question 52

What are the 4 domains of child development?

Answer 52

1. Gross motor 2. Fine motor and vision 3. Hearing and language 4. Social and emotional

Question 53

What are the 4 stages of child development?

Answer 53

``` Infancy (0-2) Early childhood (2-6) Middle childhood (6-12) Adolescence (12-18) ```

Question 54

What are the 5 stages of language development?

Answer 54

1. Preverbal communication 2. Phonological development 3. Semantic development 4. Syntax/grammar development 5. Pragmatics development

Question 55

When does the 'naming explosion' occur?

Answer 55

18 months

Question 56

What age do babies have a preference for faces?

Answer 56

4 months

Question 57

What are the three types of learning in children?

Answer 57

Conditioning Habituation/dishabituation Schematic learning

Question 58

What are Piaget's 4 stages of child cognitive development?

Answer 58

1. Sensorimotor 2. Preoperational 3. Concrete operations 4. Formal operations

Question 59

At what age does separation anxiety and fear of strangers develop?

Answer 59

8 months

Question 60

What age is social referencing learnt? (e.g. facial expressions)

Answer 60

10 months

Question 61

When is the critical period for attachment?

Answer 61

6 months to 2 years (11-18 months is peak)