Developmental Medicine Flashcards

(104 cards)

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
When should you refer a child who cannot sit without support?
12 months
26
From what age should a child be able to crawl?
9 months
27
From what age should a child be able to cruise?
12 months
28
From what age should a child be able to walk with one hand for support?
12 months
29
From what age should a child be able to walk unsupported?
By 13-15 months
30
When should you refer a child who cannot walk unsupported?
18 months
31
From what age should a child be able to squat to pick up a toy?
18 months
32
From what age should a child be able to run?
2 years
33
From what age should a child be able to walk up and downstairs holding onto a rail?
2 years
34
From what age should a child be able to ride a bike?
3 years
35
From what age should a child be able to hop on one leg?
4 years
36
From what age should a child be able to reach for an object?
3 months
37
From what age should a child be able to fix and follow 180 degrees?
3 months
38
From what age should a child be able to hold in palmar grasp?
6 months
39
From what age should a child be able to hold in scissor grasp?
9 months
40
From what age should a child be able to point?
9 months
41
From what age should a child be able to hold in pincer grasp?
12 months
42
From what age should a child be able to build a tower of 2?
15 months
43
From what age should a child be able to build a tower of 3?
18 months
44
From what age should a child be able to build a tower of 6?
2 years
45
From what age should a child be able to build a tower of 9?
3 years
46
From what age should a child be able to scribble?
18 months
47
From what age should a child be able to draw vertical lines?
2 years
48
From what age should a child be able to draw a circle?
3 years
49
From what age should a child be able to draw a cross?
4 years
50
From what age should a child be able to draw a square or triangle?
5 years
51
From what age should a child be able to smile?
6 weeks
52
When should you refer a child who cannot smile?
Refer by 10 weeks
53
From what age should a child be able to laugh and enjoy friendly handling?
3 months
54
From what age should a child be able to be curious and engage with people?
6 months
55
From what age should a child begin being shy and cautious around new people?
9 months
56
From what age should a child be able to hold a bottle and be fed?
6 months
57
From what age should a child be able to drink from a cup and begin to use a spoon?
1-1.25 years
58
From what age should a child be able to use a spoon and fork?
3 years
59
From what age should a child be able to use a knife and fork?
5 years
60
From what age should a child be able to play "peek-a-boo"?
9 months
61
From what age should a child be able to wave "bye-bye"?
12 months
62
From what age should a child be able to play contentedly alone?
18 months
63
From what age should a child be able to play near others, but not with them?
2 years
64
From what age should a child be able to play with other children and interact?
4 years
65
From what age should a child be able to turn towards sound?
3 months
66
From what age should a child be able to double syllables?
6 months
67
From what age should a child be able to say "mama" and "dada"?
9 months
68
From what age should a child be able to respond to their own name?
12 months
69
From what age should a child be able to know about 2-6 words?
12-16 months
70
From what age should a child be able to speak 50+ words?
2 years
71
From what age should a child be able to speak 200+ words?
2.5 years
72
From what age should a child be able to talk in short sentences?
3 years
73
From what age should a child be able to tell stories?
4 years
74
Give examples of conditions which can cause a Global Delay?
- Down's Syndrome - Fragile X Syndrome - Foetal Alcohol Syndrome - Rett Syndrome
75
What is Dyslexia?
Learning disability, difficulty in reading, writing and spelling
76
What is Dysgraphia?
Learning disability, difficulty in writing specifically
77
What is Dyspraxia?
Learning disability, developmental co-ordination disorder, more common in boys, with delayed gross and fine motor skills
78
What is an Auditory Processing Disorder?
Learning disability, difficulty in processing auditory information
79
What is a Non-Verbal Learning Disability?
Learning disability, difficulty processing non-verbal information such as body language / facial expressions
80
What is the classification of Learning Disabilities, based on IQ?
Mild LD: 55-70 Moderate: 40-55 Severe: 25-40 Profound: Less than 25
81
When does Puberty start in females?
From 8-14 years old
82
When does Puberty start in males?
From 9-15 years old
83
What is the first sign of puberty in females?
Breast development
84
What is the first sign of puberty in males?
Enlargement of the testicles
85
Outline the series of signs of puberty in a female, from onset to the end?
Breast development -> Pubic hair -> Menarche
86
Outline the series of signs of puberty in a male, from onset to the end?
Enlargement of testicles -> Enlargement of the penis -> Darkening of the scrotum -> Development of pubic hair -> Deepening of the voice
87
When is the maximum height of a female achieved?
By 12 years old
88
When is the maximum height of a male achieved?
By 14 years old
89
What is the classification system used to determine pubertal stages?
Tanner Classification System
90
Outline what Hypogonadism is?
Hypogonadism refers to a lack of sex hormones Oestrogen and Testosterone
91
What are some causes of Hypogonadotrophic Hypogonadism? Outline 8 causes
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
What are some causes of Hypergondotrophic Hypogonadism? Outline 4 causes
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
What are the - Initial Investigations - Hormone tests - Genetic tests - Imaging To test for delayed puberty?
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
What is the genetic inheritance of Kallmann's Syndrome?
X-Linked recessive
95
Outline the pathophysiology of Kallmann's Syndrome
Failure of the GnRH -secreting neurones to migrate to the hypothalamus
96
What is the height of patient's with Kallman's Syndrome?
Normal or above average height
97
What are the reproductive and non-reproductive features of Kallman's Syndrome?
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
What is Precocious Puberty defined as?
Puberty before 8 in girls | Puberty before 9 in boys
99
``` Define: Adrenarche Thelarche Pubarche Menarche ```
Adrenarche - Onset of pubic hair, body odour, skin oiliness Thelarche - Breast development Pubarche - Onset of pubic hair Menarche - Onset of menstruation
100
Precocious puberty can be caused by two underlying pathologies - describe them? What affect do they have on LH and FSH?
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
If there is precocious puberty plus bilateral testicular enlargement, what does this suggest?
Gonadotrophin release from intracranial lesion
102
If there is precocious puberty plus unilateral testicular enlargement, what does this suggest?
Gonadal tumour
103
If there is precocious puberty plus a small testicle, what does this suggest?
An adrenal cause
104
What genetic condition causes precocious puberty?
McCune Albright Syndrome