Developmental Medicine Flashcards

1
Q

What are the three phases of growth and when do they occur?

A

Infancy: Birth -> 2 years
Childhood: 3 years -> 11 years
Puberty: 12 years -> 18 years

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2
Q

What is plotted on a Growth Chart?

A

X-axis: Age

Y-axis: Height, weight, head circumference

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3
Q

What is the first phase of growth and what is it driven by?

A

Infancy, driven by insulin and nutritional factors

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4
Q

What is the second phase of growth and what is it driven by?

A

Childhood, driven by growth hormone and thyroxine

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5
Q

What is the third phase of growth and what is it driven by?

A

Puberty, driven by sex steroids and growth hormone

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6
Q

What is SGA and LGA defined by in centiles?

A

SGA: Less than 10th centile
LGA: More than 90th centile

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7
Q

What is Overweight and Obese defined by in centiles?

A

Overweight: >85th centile
Obese: >95th centile

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8
Q

How many growth chart records should be taken in the first 1 year of life?

A

5

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9
Q

How many growth chart records should be taken in a child aged between 1 and 2?

A

3

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10
Q

How many growth chart records should be taken in a child aged >2?

A

Annually

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11
Q

When should a GP review a SGA child?

When should a Paediatrician review a SGA child?

A

If it falls below the 2nd centile - GP

If it falls below the 0.4th centile - Paediatrician

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12
Q

How do you define FTT in a child based on their birth weight?

A
  • If birth weight was <9th centile, then 1 or more centile space decrease
  • If birth weight was 9th - 91st centile, then 2 or more centile space decrease
  • If birth weight was >91th centile, than 3 or more centile space decrease
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13
Q

What are the 9 UK centile spaces?

A
0.4th
2nd
9th
25th
50th
75th
91st
98th
99.6th
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14
Q

What is Short Stature defined as?

A

A child’s height is less than 2 standard deviations below average for their age and sex

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15
Q

How do you calculate Mid-Parental Height for girls / boys?

A

Girls: Maternal height (cm) + Paternal height (cm) - 14cm / 2

Boys: Maternal height (cm) + Paternal height (cm) + 14cm / 2

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16
Q

What are 7 broad causes for Short Stature?

A
  1. Familial Short Stature
  2. Constitutional Delay in Growth + Development
  3. Malnutrition
  4. Chronic Disease i.e. Coeliacs, IBD
  5. Endocrine Disorders i.e. Hypothyroidism
  6. Genetic Disease i.e. Down’s Syndrome
  7. Skeletal Dysplasia i.e. Acondroplasia
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17
Q

In a Child with Constitutional Delay, what is:

  1. Bone Age wrt Chronological Age
  2. Growth Velocity
A
  1. Bone Age < Chronological Age

2. Growth Velocity is normal

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18
Q

In a Child with Familial Short Stature, what is:

  1. Bone Age wrt Chronological Age
  2. Growth Velocity
A
  1. Bone Age = Chronological Age

2. Growth Velocity is normal

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19
Q

What is Constitutional Delay in Growth and Development?

A

A variation on normal development, where there is short stature in childhood and delayed puberty, but normal height in adulthood. “Late bloomers”

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20
Q

What is Tall Stature with respect to Bone Age and Chronological Age?

A

Bone Age > Chronological Age

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21
Q

What is Familial Tall Stature with respect to Bone Age and Chronological Age, and Growth Velocity?

A

Bone Age > Chronological Age

Growth Velocity is normal

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22
Q

From what age should a child be able to roll, front to back?

A

6 months

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23
Q

From what age should a child be able to be pulled to sit up?

A

3 months

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24
Q

From what age should a child be able to sit without support?

A

7-8 months

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25
Q

When should you refer a child who cannot sit without support?

A

12 months

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26
Q

From what age should a child be able to crawl?

A

9 months

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27
Q

From what age should a child be able to cruise?

A

12 months

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28
Q

From what age should a child be able to walk with one hand for support?

A

12 months

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29
Q

From what age should a child be able to walk unsupported?

A

By 13-15 months

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30
Q

When should you refer a child who cannot walk unsupported?

A

18 months

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31
Q

From what age should a child be able to squat to pick up a toy?

A

18 months

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32
Q

From what age should a child be able to run?

A

2 years

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33
Q

From what age should a child be able to walk up and downstairs holding onto a rail?

A

2 years

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34
Q

From what age should a child be able to ride a bike?

A

3 years

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35
Q

From what age should a child be able to hop on one leg?

A

4 years

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36
Q

From what age should a child be able to reach for an object?

A

3 months

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37
Q

From what age should a child be able to fix and follow 180 degrees?

A

3 months

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38
Q

From what age should a child be able to hold in palmar grasp?

A

6 months

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39
Q

From what age should a child be able to hold in scissor grasp?

A

9 months

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40
Q

From what age should a child be able to point?

A

9 months

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41
Q

From what age should a child be able to hold in pincer grasp?

A

12 months

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42
Q

From what age should a child be able to build a tower of 2?

A

15 months

43
Q

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

A

18 months

44
Q

From what age should a child be able to build a tower of 6?

A

2 years

45
Q

From what age should a child be able to build a tower of 9?

A

3 years

46
Q

From what age should a child be able to scribble?

A

18 months

47
Q

From what age should a child be able to draw vertical lines?

A

2 years

48
Q

From what age should a child be able to draw a circle?

A

3 years

49
Q

From what age should a child be able to draw a cross?

A

4 years

50
Q

From what age should a child be able to draw a square or triangle?

A

5 years

51
Q

From what age should a child be able to smile?

A

6 weeks

52
Q

When should you refer a child who cannot smile?

A

Refer by 10 weeks

53
Q

From what age should a child be able to laugh and enjoy friendly handling?

A

3 months

54
Q

From what age should a child be able to be curious and engage with people?

A

6 months

55
Q

From what age should a child begin being shy and cautious around new people?

A

9 months

56
Q

From what age should a child be able to hold a bottle and be fed?

A

6 months

57
Q

From what age should a child be able to drink from a cup and begin to use a spoon?

A

1-1.25 years

58
Q

From what age should a child be able to use a spoon and fork?

A

3 years

59
Q

From what age should a child be able to use a knife and fork?

A

5 years

60
Q

From what age should a child be able to play “peek-a-boo”?

A

9 months

61
Q

From what age should a child be able to wave “bye-bye”?

A

12 months

62
Q

From what age should a child be able to play contentedly alone?

A

18 months

63
Q

From what age should a child be able to play near others, but not with them?

A

2 years

64
Q

From what age should a child be able to play with other children and interact?

A

4 years

65
Q

From what age should a child be able to turn towards sound?

A

3 months

66
Q

From what age should a child be able to double syllables?

A

6 months

67
Q

From what age should a child be able to say “mama” and “dada”?

A

9 months

68
Q

From what age should a child be able to respond to their own name?

A

12 months

69
Q

From what age should a child be able to know about 2-6 words?

A

12-16 months

70
Q

From what age should a child be able to speak 50+ words?

A

2 years

71
Q

From what age should a child be able to speak 200+ words?

A

2.5 years

72
Q

From what age should a child be able to talk in short sentences?

A

3 years

73
Q

From what age should a child be able to tell stories?

A

4 years

74
Q

Give examples of conditions which can cause a Global Delay?

A
  • Down’s Syndrome
  • Fragile X Syndrome
  • Foetal Alcohol Syndrome
  • Rett Syndrome
75
Q

What is Dyslexia?

A

Learning disability, difficulty in reading, writing and spelling

76
Q

What is Dysgraphia?

A

Learning disability, difficulty in writing specifically

77
Q

What is Dyspraxia?

A

Learning disability, developmental co-ordination disorder, more common in boys, with delayed gross and fine motor skills

78
Q

What is an Auditory Processing Disorder?

A

Learning disability, difficulty in processing auditory information

79
Q

What is a Non-Verbal Learning Disability?

A

Learning disability, difficulty processing non-verbal information such as body language / facial expressions

80
Q

What is the classification of Learning Disabilities, based on IQ?

A

Mild LD: 55-70
Moderate: 40-55
Severe: 25-40
Profound: Less than 25

81
Q

When does Puberty start in females?

A

From 8-14 years old

82
Q

When does Puberty start in males?

A

From 9-15 years old

83
Q

What is the first sign of puberty in females?

A

Breast development

84
Q

What is the first sign of puberty in males?

A

Enlargement of the testicles

85
Q

Outline the series of signs of puberty in a female, from onset to the end?

A

Breast development -> Pubic hair -> Menarche

86
Q

Outline the series of signs of puberty in a male, from onset to the end?

A

Enlargement of testicles -> Enlargement of the penis -> Darkening of the scrotum -> Development of pubic hair -> Deepening of the voice

87
Q

When is the maximum height of a female achieved?

A

By 12 years old

88
Q

When is the maximum height of a male achieved?

A

By 14 years old

89
Q

What is the classification system used to determine pubertal stages?

A

Tanner Classification System

90
Q

Outline what Hypogonadism is?

A

Hypogonadism refers to a lack of sex hormones Oestrogen and Testosterone

91
Q

What are some causes of Hypogonadotrophic Hypogonadism? Outline 8 causes

A
  1. Damage to the hypothalamus / pituitary gland (radiotherapy, cancer)
  2. Growth hormone deficiency
  3. Hypothyroidism
  4. Hyperprolactinaemia
  5. Chronic conditions i.e. CF, IBD
  6. Excessive exercise / dieting
  7. Constitutional delay
  8. Kallman’s Syndrome
92
Q

What are some causes of Hypergondotrophic Hypogonadism? Outline 4 causes

A
  1. Damage to the gonads (Testicular torsion, cancer, infections i.e. mumps)
  2. Congenital absence of Testes / Ovaries
  3. Kleinfiler’s syndrome 47XXY
  4. Turner’s syndrome 45X0
93
Q

What are the

  • Initial Investigations
  • Hormone tests
  • Genetic tests
  • Imaging

To test for delayed puberty?

A

Initial Investigations

  1. FBC and ferritin for anaemias
  2. U&Es for chronic kidney diseases
  3. Anti-TTG / EMA for Coeliacs disease

Hormone tests

  1. Early morning serum FSH and LH
  2. Thyroid function tests
  3. IGF-1 to test for growth hormone deficiency

Genetic tests

  1. Kleinfelter’s (47 XX7)
  2. Turner’s (45, XO)

Imaging

  1. XR of the wrist (Bone age for CDGD)
  2. Pelvic ultrasound to assess ovaries
  3. MRI of brain for Pituitary pathology and assess Olfactory bulb (Kallmann’s)
94
Q

What is the genetic inheritance of Kallmann’s Syndrome?

A

X-Linked recessive

95
Q

Outline the pathophysiology of Kallmann’s Syndrome

A

Failure of the GnRH -secreting neurones to migrate to the hypothalamus

96
Q

What is the height of patient’s with Kallman’s Syndrome?

A

Normal or above average height

97
Q

What are the reproductive and non-reproductive features of Kallman’s Syndrome?

A

Reproductive:

  • Delayed puberty
  • Low sperm count in males
  • Amenorrhoea in females

Non-reproductive:

  • Renal agenesis
  • Hearing loss
  • ANOSMIA
  • Cleft / lip palate
  • Syndactyly
  • Hand synkinesis
98
Q

What is Precocious Puberty defined as?

A

Puberty before 8 in girls

Puberty before 9 in boys

99
Q
Define:
Adrenarche
Thelarche
Pubarche
Menarche
A

Adrenarche - Onset of pubic hair, body odour, skin oiliness
Thelarche - Breast development
Pubarche - Onset of pubic hair
Menarche - Onset of menstruation

100
Q

Precocious puberty can be caused by two underlying pathologies - describe them? What affect do they have on LH and FSH?

A
  1. Gonadotropin dependent - due to premature activation of the HPG axis. High LH and FSH
  2. Gonadotropin independent - due to excess sex hormones. Low LH and FSH
101
Q

If there is precocious puberty plus bilateral testicular enlargement, what does this suggest?

A

Gonadotrophin release from intracranial lesion

102
Q

If there is precocious puberty plus unilateral testicular enlargement, what does this suggest?

A

Gonadal tumour

103
Q

If there is precocious puberty plus a small testicle, what does this suggest?

A

An adrenal cause

104
Q

What genetic condition causes precocious puberty?

A

McCune Albright Syndrome