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
What are the 2 key features of 1ary hyperaldosteronism?
1) HTN 2) Hypokalaemia (e.g. muscle weakness or cramps)
26
What is the most common cause of 2ary hyperaldosteronism?
Bilateral idiopathic adrenal hyperplasia (Was previously thought to be most commonly caused by an adrenal adenoma, termed Conn's syndrome).
27
What age in females is precocious puberty defined?
The development of 2ary sexual characteristics <8 y/o
28
What is the 1st line treatment for most patients with a pituitary tumour causing acromegaly?
Trans-sphenoidal surgery
29
Karyotype vs phenotype in androgen insensitivity syndrome?
Male karyotype (46XY) with female external phenotype.
30
What will a hormone profile show in Kallman's syndrome?
Low testosterone and a low/inappropriately low LH and FSH. This results in hypogonadotropic hypogonadism.
31
At what age would the average child start to play alongside, but not interacting with, other children?
2 years (this is known as parallel play).
32
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
1) Low 2) Low 3) Raised 4) Raised
33
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
1) Low 2) Low 3) Low 4) Normal
34
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
1) High 2) Normal 3) Normal 4) Normal
35
What is the definitive management of slipped upper femoral epiphysis (SUFE)?
Internal fixation across the growth plate
36
What is the average age at which a child is able to talk in short sentences (3-5 words)?
2.5-3 years
37
What hormonal managment is indicated in Turner's syndrome?
GH therapy (due to short stature). Given via SC injection.
38
Inheritance of haemophilia?
X-linked recessive
39
Management of Kallman's syndrome?
1) Testosterone supplementation 2) Gonadotrophin supplementation may result in sperm production if fertility is desired later in life
40
What are the three possible criteria for a diagnosis of malnutrition?
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
41
Why are patients with nephrotic syndrome at an increased risk of VTE?
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.
42
What is methylphenidate?
A stimulant medication commonly used for the treatment of ADHD.
43
What is a key side effect of methylphenidate use in paediatric patients?
Can suppress growth --> crucial to monitor the child's height and weight regularly during the course of treatment.
44
Refusal of treatment if <16, 16-18, or >18 y/o?
<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.
45
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
9-12 months
46
In normal fine motor development, what is the order & age at which they are able to draw shapes? Note - can copy 6 months earlier
Line - 2 years Circle - 3 years Cross - 3.5 years Square - 4 years Triangle - 5 years
47
How long before being able to draw a shape are children able to copy it?
Usually 6 months
48
How is the seasonal flu vaccine usually administered in children aged 2 and 3?
Nasally
49
How long should honey be avoided for in infants?
Avoided before 12 months due to risk of infant botulism.
50
What is the cut off for an acceptable weight loss in the first 7 days?
10%
51
Around what age should a child be able to build a tower block of 3?
18 months
52
At what age should a child be referred to a paediatrician if they haven't started to walk?
18 months
53
Down's syndrome is associated with the development of which cancer?
ALL
54
What 2 GI abnormalities is Down's associated with?
Duodenal atresia + Hirschsprung's
55
What is the most common cause of 1ary amenorrhoea?
Turner's syndrome
56
What nuchal translucency indicates Downs?
>6mm
57
What 2 cardiac abnormalities may be seen in Turner syndrome?
1) Bicuspid aortic valve (leads to aortic stenosis) 2) Coarctation of the aorta
58
What is the most common renal abnormality in Turner's?
Horseshoe kidney
59
How can Down's syndrome affect the neck?
Can cause atlantoaxial instability
60
What are 3 treatments that can be used to help with the symptoms in Turner's?
1) GH therapy 2) Oestrogen & progesterone 3) Fertility treatment
61
Role of GH therapy in Turner's?
Prevent short stature
62
Role of oestrogen & progesterone replacement in Turner’s?
Can help establish female 2ary sex characteristics, regulate the menstrual cycle & prevent osteoporosis.
63
When is the combined test performed?
11-13+6 weeks
64
When can the triple or quadruple test be performed?
14-20 weeks
65
Hypospadias is often isolated. What are 2 conditions that it may be associated with?
Cryptorchidism & inguinal hernia
66
What murmur is likely to be heard in Turner's?
Ejection systolic --> due to bicuspid aortic valve
67
Down's syndrome and diabetes risk?
No increased risk
68
What are 4 key features of Patau syndrome (trisomy 13)?
1) Microcephalic, small eyes 2) Cleft lip/palate 3) Polydactyly 4) Scalp lesions
69
What are the 4 key features of Edward's syndrome (trisomy 18)?
1) Micrognathia 2) Low-set ears 3) Rocker bottom feet 4) Overlapping of fingers
70
What genetic syndrome might you see polydactyly?
Patau syndrome (trsiomy 13)
71
What are the 3 key features of Prader-Willi syndrome?
1) Hypotonia 2) Hypogonadism 3) Obesirty
72
What are the 5 key features of Fragile X?
1) Learning difficulties 2) Macrocephaly 3) Long face 4) Large ears 5) Macro-orchidism
73
What is micrognathia?
When the lower jaw (mandible) is smaller than normal.
74
In what genetic condition might you see micrognathia?
Edward's syndrome
75
What are rocker bottom feet?
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
What genetic condition are rocker bottom feet seen in?
Edward's syndrome
77
How can calcium levels affect eyesight?
Hypocalcaemia is a cause of cataracts
78
What is the most common cause of inherited neurodevelopmental delay?
Fragile X syndrome
79
How can you distinguish Down's syndrone and Edwards/Patau syndrome on combined test?
Similar results but lower hCG
80
How many phases of growth are there?
4: 1) Pre-natal/intra-uterine 2) Infantile 3) Childhood 4) Pubertal
81
Which is the most rapid phase of growth?
Pre-natal/intra-uterine
82
What drives growth in the infantile phase?
1) Nutrition 2) Thyroid hormones 3) Good health & happiness
83
What drives growth in childhood?
1) GH 2) Thyroid hormones 3) Genes
84
What drives growth in the pubertal phase?
1) Testosterone/oestrogen 2) GH
85
What is the average birth weight?
3.3kg
86
How much weight per day does a child typically gain from day 10 to 3 months?
30g/day
87
Average head circumference at birth?
35cm
88
When do teeth typically first appear?
6 months
89
at what age is weaning typically recommended?
6 months
90
Typical feed requirements after first week until weaning?
150 mls/kg/day
91
How may calories does 150ml of milk contain?
110 kcal
92
How many calories does a child typically require: a) 0-1 year b) 1+ year
a) 110 kcal/kg/day b) 1000 + (100x age) kcal/day
93
Maintenance fluid requirements in children?
1st 10kg --> 100mls/kg/day 2nd 10kg --> 50mls/kg/day 3rd & subsequent kg --> 20mls/kg/day
94
Freddie is 28kg and is vomiting requiring maintenance IV fluids. Calculate his hourly IV fluid requirement.
100 x 10 = 1000 50 x 10 = 500 8 x 20 = 160 Total = 1660/24h = 69ml/hr
95
Define overweight regarding centiles
>91st centile
96
Define obese regarding centiles
>98th centile
97
What are the 4 categories of developmental milestones?
1) Gross motor 2) Fine motor 3) Speech & language (incl. hearing) 4) Social
98
Average age for gross motor milestones:
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
What is the upper limit age for sitting (i.e. when does it become a red flag)?
9m
100
What is the upper limit age for walking?
18m
101
Causes of a delay in walking?
1) Muscular dystrophy e.g. Duchenne's 2) Cerebral palsy 3) 'Bottom shufflers' - can be normal
102
What are some developmental warning signs?
1) FH 2) Maternal concern 3) Persisting primitive reflexes 4) Discordant development 5) Regression
103
At what age should children achieve daytime bladder control?
2-3y
104
What is encopresis?
Passage of faeces into clothes by day or night
105
At what age is encopresis abnormal?
After 4y
106
Define premature
<37w
107
Define post-mature
>42w
108
What % of weight loss in first 10 days in abnormal?
≥10%
109
At what age are night terrors most common?
4-7y
110
At what age are nightmares most common?
8-10y
111
At what age is sleep walking most common?
5-10y
112
What 5 hormones stimulate the growth plate?
1) GH 2) IGF-1 3) Thyroid hormone 4) Oestrogen 5) PTH
113
What can inhibit the growth plate? (4)
1) Cytokines 2) Drugs 3) High dose oestrogen 4) Steroids
114
Where is the growth plate located?
End of the long bones
115
What testicular volume indicates onset of puberty?
>4ml
116
Key investigations in precocious puberty? (2)
1) MRI of the brain 2) Scan pelvis & adrenals
117
Normal rate of growth of a child?
4-6cm / year
118
What karyotype is Klinefelter's syndrome associated with?
47 XXY
119
Typical features of Klinefelter's syndrome?
- taller than average - lack of 2ary sexual characteristics - small, firm testes - infertile - gynaecomastia - increased incidence of breast cancer - elevated gonadotrophin levels
120
Inheritance of Kallman's?
X-linked recessive
121
What is the clue given in many questions about Kallman's syndrome?
anosmia in a boy with delayed puberty
122