Corrections - Development Flashcards

1
Q

When is the normal age when a child show should a responsive smile?

A

6-8 weeks

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2
Q

What is the gestational age that the developmental milestones are based off?

A

40 weeks (ie. term)

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3
Q

A baby was born prematurely at 32 weeks gestation.

With the premature age in mind, when should this baby begin to show a responsive social smile?

A

Normally 6-8 weeks

But baby born 8 weeks prematurely.

6-8 + 8 = 14-16 weeks

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4
Q

When is the corrected age taking into consideration when looking at milestones?

A

until the age of 2

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5
Q

What heart murmur is Turner’s associated with?

A

Ejectoin systolic murmur.

Due to bicuspid valve (causing aortic stenosis).

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6
Q

How does Turner’s syndrome affect the elbow carrying angle?

A

Can cause a degree of cubitus valgus (i.e. distal part of the forearm points laterally).

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7
Q

How does Turner’s syndrome affect height?

A

Short stature

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8
Q

How does Turner’s syndrome affect puberty?

A

Can cause delayed puberty (i.e. primary amenorrhoea).

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9
Q

What is androgen insensitivity syndrome?

A

An X-linked recessive condition due to end-organ resistance to testosterone causing genotypically male children (46XY) to have a female phenotype.

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10
Q

What are the 3 key features of androgen insensitivity syndrome?

A

1) ‘Primary amenorrhoea’

2) Undescended testes causing groin swellings

3) Breast development may occur as a result of conversion of testosterone to oestradiol

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11
Q

What causes the groin swellings in androgen insensitivity syndrome?

A

Undescended testes

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12
Q

Management of androgen insensitivity syndrome?

A

1) counselling - raise child as female

2) bilateral orchidectomy (increased risk of testicular cancer due to undescended testes)

3) oestrogen therapy

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13
Q

Why is a bilateral orchidectomy indicated in androgen insensitivity syndrome?

A

Due to the increased risk of testicular cancer due to undescended testes.

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14
Q

When is a child expected to have a hand preference?

A

NOT before 12 months old

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15
Q

What does hand preference <12 months old indicate?

A

Abnormal and may indicate cerebral palsy

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16
Q

At what age should a child be able to pass objects from one hand to another?

A

6 months

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17
Q

By what age is a child expected to be able to build a tower of 2 bricks?

A

15 months

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18
Q

By what age is a child expected to be able to copy a vertical line?

A

2 years old (fine motor skill)

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19
Q

By what age is a child expected to have a good pincer grip?

A

12 months old (fine motor skill)

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20
Q

In the investigation of acromegaly, what 2 investigations are done?

A

1st –> Serum IGF-1 levels

If high:

2nd –> OGTT and serial GH measurements to confirm the diagnosis

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21
Q

1st line investigation in acromegaly?

A

Serum IGF-1 levels

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22
Q

What is the treatment for acromegaly?

A

Octreotide

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23
Q

In the investigation of acromegaly, if a patient is shown to have raised IGF-1 levels, what test is indicated next?

A

OGTT with serial GH measurements to confirm diagnosis

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24
Q

What is the 1st line investigation in suspected 1ary hyperaldosteronism?

A

Plasma aldosterone/renin ratio

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25
Q

What are the 2 key features of 1ary hyperaldosteronism?

A

1) HTN

2) Hypokalaemia (e.g. muscle weakness or cramps)

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26
Q

What is the most common cause of 2ary hyperaldosteronism?

A

Bilateral idiopathic adrenal hyperplasia

(Was previously thought to be most commonly caused by an adrenal adenoma, termed Conn’s syndrome).

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27
Q

What age in females is precocious puberty defined?

A

The development of 2ary sexual characteristics <8 y/o

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28
Q

What is the 1st line treatment for most patients with a pituitary tumour causing acromegaly?

A

Trans-sphenoidal surgery

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29
Q

Karyotype vs phenotype in androgen insensitivity syndrome?

A

Male karyotype (46XY) with female external phenotype.

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30
Q

What will a hormone profile show in Kallman’s syndrome?

A

Low testosterone and a low/inappropriately low LH and FSH.

This results in hypogonadotropic hypogonadism.

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31
Q

At what age would the average child start to play alongside, but not interacting with, other children?

A

2 years (this is known as parallel play).

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32
Q

When interpreting the results of quadrapule tests in antenatal screening, what are the following results for Down’;s syndrome?

1) AFP
2) Oestriol
3) hCG
4) Inhibin A

A

1) Low
2) Low
3) Raised
4) Raised

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33
Q

When interpreting the results of quadrapule tests in antenatal screening, what are the following results for Edward’s syndrome?

1) AFP
2) Oestriol
3) hCG
4) Inhibin A

A

1) Low
2) Low
3) Low
4) Normal

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34
Q

When interpreting the results of quadrapule tests in antenatal screening, what are the following results for neural tube defects:

1) AFP
2) Oestriol
3) hCG
4) Inhibin A

A

1) High
2) Normal
3) Normal
4) Normal

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35
Q

What is the definitive management of slipped upper femoral epiphysis (SUFE)?

A

Internal fixation across the growth plate

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36
Q

What is the average age at which a child is able to talk in short sentences (3-5 words)?

A

2.5-3 years

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37
Q

What hormonal managment is indicated in Turner’s syndrome?

A

GH therapy (due to short stature).

Given via SC injection.

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38
Q

Inheritance of haemophilia?

A

X-linked recessive

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39
Q

Management of Kallman’s syndrome?

A

1) Testosterone supplementation

2) Gonadotrophin supplementation may result in sperm production if fertility is desired later in life

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40
Q

What are the three possible criteria for a diagnosis of malnutrition?

A

1) Unintentional weight loss >10% within the last 3-6 months

2) BMI <20 and unintentional weight loss greater than 5% within the last 3-6 months

3) BMI <18.5

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41
Q

Why are patients with nephrotic syndrome at an increased risk of VTE?

A

Due to the loss of anti-thrombin III.

Antithrombin III inhibits the action of thrombin and therefore loss of anti-thrombin results in unopposed thrombin activity creating a pro-coagulant state.

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42
Q

What is methylphenidate?

A

A stimulant medication commonly used for the treatment of ADHD.

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43
Q

What is a key side effect of methylphenidate use in paediatric patients?

A

Can suppress growth –> crucial to monitor the child’s height and weight regularly during the course of treatment.

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44
Q

Refusal of treatment if <16, 16-18, or >18 y/o?

A

<16 –> cannot refuse treatment that is deemed in their best interest (even if deemed Gillick competent).

16-18 –> can refuse treatment but can be overruled in court.

> 18 –> can refuse treatment.

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45
Q

At what age should a child develop a mature pincer grip?

eg. able to pick up small objects with the tips of their thumb and index finger

A

9-12 months

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46
Q

In normal fine motor development, what is the order & age at which they are able to draw shapes?

Note - can copy 6 months earlier

A

Line - 2 years

Circle - 3 years

Cross - 3.5 years

Square - 4 years

Triangle - 5 years

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47
Q

How long before being able to draw a shape are children able to copy it?

A

Usually 6 months

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48
Q

How is the seasonal flu vaccine usually administered in children aged 2 and 3?

A

Nasally

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49
Q

How long should honey be avoided for in infants?

A

Avoided before 12 months due to risk of infant botulism.

50
Q

What is the cut off for an acceptable weight loss in the first 7 days?

A

10%

51
Q

Around what age should a child be able to build a tower block of 3?

A

18 months

52
Q

At what age should a child be referred to a paediatrician if they haven’t started to walk?

A

18 months

53
Q

Down’s syndrome is associated with the development of which cancer?

A

ALL

54
Q

What 2 GI abnormalities is Down’s associated with?

A

Duodenal atresia + Hirschsprung’s

55
Q

What is the most common cause of 1ary amenorrhoea?

A

Turner’s syndrome

56
Q

What nuchal translucency indicates Downs?

A

> 6mm

57
Q

What 2 cardiac abnormalities may be seen in Turner syndrome?

A

1) Bicuspid aortic valve (leads to aortic stenosis)

2) Coarctation of the aorta

58
Q

What is the most common renal abnormality in Turner’s?

A

Horseshoe kidney

59
Q

How can Down’s syndrome affect the neck?

A

Can cause atlantoaxial instability

60
Q

What are 3 treatments that can be used to help with the symptoms in Turner’s?

A

1) GH therapy

2) Oestrogen & progesterone

3) Fertility treatment

61
Q

Role of GH therapy in Turner’s?

A

Prevent short stature

62
Q

Role of oestrogen & progesterone replacement in Turner’s?

A

Can help establish female 2ary sex characteristics, regulate the menstrual cycle & prevent osteoporosis.

63
Q

When is the combined test performed?

A

11-13+6 weeks

64
Q

When can the triple or quadruple test be performed?

A

14-20 weeks

65
Q

Hypospadias is often isolated.

What are 2 conditions that it may be associated with?

A

Cryptorchidism & inguinal hernia

66
Q

What murmur is likely to be heard in Turner’s?

A

Ejection systolic –> due to bicuspid aortic valve

67
Q

Down’s syndrome and diabetes risk?

A

No increased risk

68
Q

What are 4 key features of Patau syndrome (trisomy 13)?

A

1) Microcephalic, small eyes
2) Cleft lip/palate
3) Polydactyly
4) Scalp lesions

69
Q

What are the 4 key features of Edward’s syndrome (trisomy 18)?

A

1) Micrognathia
2) Low-set ears
3) Rocker bottom feet
4) Overlapping of fingers

70
Q

What genetic syndrome might you see polydactyly?

A

Patau syndrome (trsiomy 13)

71
Q

What are the 3 key features of Prader-Willi syndrome?

A

1) Hypotonia

2) Hypogonadism

3) Obesirty

72
Q

What are the 5 key features of Fragile X?

A

1) Learning difficulties
2) Macrocephaly
3) Long face
4) Large ears
5) Macro-orchidism

73
Q

What is micrognathia?

A

When the lower jaw (mandible) is smaller than normal.

74
Q

In what genetic condition might you see micrognathia?

A

Edward’s syndrome

75
Q

What are rocker bottom feet?

A

In a child with rocker-bottom foot, the bottom of the foot flexes in the opposite direction, making the middle of the foot touch the floor, while the toes and heel curve upward, touching the shin.

76
Q

What genetic condition are rocker bottom feet seen in?

A

Edward’s syndrome

77
Q

How can calcium levels affect eyesight?

A

Hypocalcaemia is a cause of cataracts

78
Q

What is the most common cause of inherited neurodevelopmental delay?

A

Fragile X syndrome

79
Q

How can you distinguish Down’s syndrone and Edwards/Patau syndrome on combined test?

A

Similar results but lower hCG

80
Q

How many phases of growth are there?

A

4:

1) Pre-natal/intra-uterine

2) Infantile

3) Childhood

4) Pubertal

81
Q

Which is the most rapid phase of growth?

A

Pre-natal/intra-uterine

82
Q

What drives growth in the infantile phase?

A

1) Nutrition

2) Thyroid hormones

3) Good health & happiness

83
Q

What drives growth in childhood?

A

1) GH

2) Thyroid hormones

3) Genes

84
Q

What drives growth in the pubertal phase?

A

1) Testosterone/oestrogen

2) GH

85
Q

What is the average birth weight?

A

3.3kg

86
Q

How much weight per day does a child typically gain from day 10 to 3 months?

A

30g/day

87
Q

Average head circumference at birth?

A

35cm

88
Q

When do teeth typically first appear?

A

6 months

89
Q

at what age is weaning typically recommended?

A

6 months

90
Q

Typical feed requirements after first week until weaning?

A

150 mls/kg/day

91
Q

How may calories does 150ml of milk contain?

A

110 kcal

92
Q

How many calories does a child typically require:

a) 0-1 year
b) 1+ year

A

a) 110 kcal/kg/day

b) 1000 + (100x age) kcal/day

93
Q

Maintenance fluid requirements in children?

A

1st 10kg –> 100mls/kg/day

2nd 10kg –> 50mls/kg/day

3rd & subsequent kg –> 20mls/kg/day

94
Q

Freddie is 28kg and is vomiting requiring maintenance IV fluids.

Calculate his hourly IV fluid requirement.

A

100 x 10 = 1000

50 x 10 = 500

8 x 20 = 160

Total = 1660/24h

= 69ml/hr

95
Q

Define overweight regarding centiles

A

> 91st centile

96
Q

Define obese regarding centiles

A

> 98th centile

97
Q

What are the 4 categories of developmental milestones?

A

1) Gross motor

2) Fine motor

3) Speech & language (incl. hearing)

4) Social

98
Q

Average age for gross motor milestones:

A

2m - raise head to 45 degrees

4m - roll over

6m - sit without support

9m - crawl

10m - walk around furniture (‘cruising’)

12m - walk unsteadily

15m - walk steadily

18m - can run

2y - jumps

3y - hops

4y - climbing frames

5y - hops & skips

99
Q

What is the upper limit age for sitting (i.e. when does it become a red flag)?

A

9m

100
Q

What is the upper limit age for walking?

A

18m

101
Q

Causes of a delay in walking?

A

1) Muscular dystrophy e.g. Duchenne’s

2) Cerebral palsy

3) ‘Bottom shufflers’ - can be normal

102
Q

What are some developmental warning signs?

A

1) FH

2) Maternal concern

3) Persisting primitive reflexes

4) Discordant development

5) Regression

103
Q

At what age should children achieve daytime bladder control?

A

2-3y

104
Q

What is encopresis?

A

Passage of faeces into clothes by day or night

105
Q

At what age is encopresis abnormal?

A

After 4y

106
Q

Define premature

A

<37w

107
Q

Define post-mature

A

> 42w

108
Q

What % of weight loss in first 10 days in abnormal?

A

≥10%

109
Q

At what age are night terrors most common?

A

4-7y

110
Q

At what age are nightmares most common?

A

8-10y

111
Q

At what age is sleep walking most common?

A

5-10y

112
Q

What 5 hormones stimulate the growth plate?

A

1) GH

2) IGF-1

3) Thyroid hormone

4) Oestrogen

5) PTH

113
Q

What can inhibit the growth plate? (4)

A

1) Cytokines

2) Drugs

3) High dose oestrogen

4) Steroids

114
Q

Where is the growth plate located?

A

End of the long bones

115
Q

What testicular volume indicates onset of puberty?

A

> 4ml

116
Q

Key investigations in precocious puberty? (2)

A

1) MRI of the brain

2) Scan pelvis & adrenals

117
Q

Normal rate of growth of a child?

A

4-6cm / year

118
Q

What karyotype is Klinefelter’s syndrome associated with?

A

47 XXY

119
Q

Typical features of Klinefelter’s syndrome?

A
  • taller than average
  • lack of 2ary sexual characteristics
  • small, firm testes
  • infertile
  • gynaecomastia - increased incidence of breast cancer
  • elevated gonadotrophin levels
120
Q

Inheritance of Kallman’s?

A

X-linked recessive

121
Q

What is the clue given in many questions about Kallman’s syndrome?

A

anosmia in a boy with delayed puberty

122
Q
A