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Human Development > Development > Flashcards

Development Flashcards

1
Q

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

A

5mC (methylation)

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2
Q

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

A

Promoter - silenced

Gene body - expressed

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3
Q

When do the 2 waves of methylation occur during development?

A

One when egg/sperm are being formed

One after fertilisation

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4
Q

What effect do maternally imprinted genes usually have on growth?

A

Stimulate

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5
Q

What effect do paternally imprinted genes usually have on growth?

A

Regulate

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6
Q

Give an example of a maternally imprinted disorder

A

Prader-Willi

Constant hunger

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7
Q

Give an example of a paternally imprinted disorder

A

Angelman syndrome

Happy, mental retardation

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8
Q

What changes in DNA methylation occur in cancer?

A

Genome wide hypomethylation

CpG specific changes

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9
Q

What is DOHAD?

A

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

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10
Q

How many babies have congenital anomalies?

A

1 in 33

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11
Q

What are the most common congenital anomalies?

A

Heart defects
Neural tube defects
Downs syndrome

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12
Q

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

A

Maternal medications

e.g. thalidomide, fetal vaproate syndrome

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13
Q

What causes diabetic embryopathy?

A

Poorly controlled diabetes in mother

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14
Q

Name 3 congenital infections

A

Zika virus
Rubella
CMV

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15
Q

Name 2 deletion syndromes

A

Di George syndrome

Williams syndrome

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16
Q

Name 2 autosomal dominant disorders

A

Noonan syndrome

Myotonic dystrophy

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17
Q

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

A

AFP

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18
Q

When are CVS/amniocentesis done?

A

CVS after 11 weeks

Amniocentesis after 16 weeks

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19
Q

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

A

Genetics
Internal and external genitalia exam
Biochemistry investigations

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20
Q

How has management of DSD changed?

A

Less on intervention/surgery

More on hormone treatment

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21
Q

What are the three categories of DSD?

A
  1. 46 XX DSD
  2. 46 XY DSD
  3. Sex chromosome DSD
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22
Q

What are 46 XX DSD disorders?

A

Disorders of ovarian development or of androgen excess

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23
Q

What is 46 XX testicular DSD?

A

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

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24
Q

What is 46 XX gonadal dysgenesis?

A

Phenotypically a failure but failure of ovarian development

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25
Q

What is fetal androgen excess?

A

Caused by congenital adrenal hyperplasia

Genetically female but male genitalia due to excess androgen

26
Q

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

A

Salt wasting

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

27
Q

What are 46 XY DSD disorders?

A

Disorders of testicular development and disorders of androgen synthesis/action

28
Q

What is complete androgen insensitivity syndrome? (AIS)

A

Body cannot respond to testosterone

Genetically a man but phenotypically a woman

29
Q

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

A

Helps to stop PPH

30
Q

What is the cervix like during pregnancy?

A

Closed to stop ascending infection

31
Q

How is the cervix prepared for labour?

A

Inflammatory process mediated by hormonal changes (COX2 unregulated)

32
Q

Which drug is used to induce labour?

A

PGE2

33
Q

What happens to the resting membrane potential as gestation progresses?

A

Becomes more positive (myometrium more excitable)

34
Q

What happens to connexin proteins towards the end of pregnancy?

A

Upregulated
More gap junctions
Increased intercellular communication causes more powerful contractions

35
Q

What is the Ferguson reflex?

A

Reflex comprising the self-sustaining cycle of uterine contractions

36
Q

How is pre term technically defined?

A

Before 37 weeks

37
Q

Why might twins be delivered early?

A

Stress trigger
Lack of space
Early activation of physiological processes

38
Q

How is labour initiated in humans?

A

NO progesterone drop
‘functional’ progesterone withdrawal
Increase in oestrogen concentrations

39
Q

What does breast milk contain?

A 
Lipids
Casein
Whey
Nitrogen
Lactose
Immune factors
40
Q

What are the 2 stages of lactation?

A
  1. Production and storage of milk in alveoli

2. Ejection of milk from alveoli to nipple

41
Q

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

A

16 weeks

42
Q

How is lactation inhibited until the baby is born?

A

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

43
Q

What is the effect of suckling on prolactin release?

A

Stimulates prolactin release

44
Q

How does suckling activate the neuroendocrine reflex?

A

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

45
Q

What role does oxytocin have in breastfeeding?

A

Suckling stimulates oxytocin release

Oxytocin causes myoepithelial cells around the alveoli to contract forcing the milk out

46
Q

What are the 5 classes of child development skills?

A 
Motor 
Perceptual
Language
Cognitive
Social
47
Q

What are critical periods in development?

A

Defined periods where appropriate stimulation is required to ensure development

48
Q

What is the hierarchy for brain development?

A
  1. Cerebellar/brainstem
  2. Posterior
  3. Anterior
49
Q

When do brain development growth spurts occur?

A

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

50
Q

What are the TORCH infections during pregnancy?

A 
Toxoplasmosis
Others
Rubella
Cytomegalovirus
Herpes
51
Q

How many adverse childhood experiences predict poorer health outcomes?

A

4 or more

52
Q

What are the 4 domains of child development?

A
  1. Gross motor
  2. Fine motor and vision
  3. Hearing and language
  4. Social and emotional
53
Q

What are the 4 stages of child development?

A 
Infancy (0-2)
Early childhood (2-6)
Middle childhood (6-12)
Adolescence (12-18)
54
Q

What are the 5 stages of language development?

A
  1. Preverbal communication
  2. Phonological development
  3. Semantic development
  4. Syntax/grammar development
  5. Pragmatics development
55
Q

When does the ‘naming explosion’ occur?

A

18 months

56
Q

What age do babies have a preference for faces?

A

4 months

57
Q

What are the three types of learning in children?

A

Conditioning
Habituation/dishabituation
Schematic learning

58
Q

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

A
  1. Sensorimotor
  2. Preoperational
  3. Concrete operations
  4. Formal operations
59
Q

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

A

8 months

60
Q

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

A

10 months

61
Q

When is the critical period for attachment?

A

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

Human Development (12 decks)

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