Corrections - Development Flashcards
When is the normal age when a child show should a responsive smile?
6-8 weeks
What is the gestational age that the developmental milestones are based off?
40 weeks (ie. term)
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?
Normally 6-8 weeks
But baby born 8 weeks prematurely.
6-8 + 8 = 14-16 weeks
When is the corrected age taking into consideration when looking at milestones?
until the age of 2
What heart murmur is Turner’s associated with?
Ejectoin systolic murmur.
Due to bicuspid valve (causing aortic stenosis).
How does Turner’s syndrome affect the elbow carrying angle?
Can cause a degree of cubitus valgus (i.e. distal part of the forearm points laterally).
How does Turner’s syndrome affect height?
Short stature
How does Turner’s syndrome affect puberty?
Can cause delayed puberty (i.e. primary amenorrhoea).
What is androgen insensitivity syndrome?
An X-linked recessive condition due to end-organ resistance to testosterone causing genotypically male children (46XY) to have a female phenotype.
What are the 3 key features of androgen insensitivity syndrome?
1) ‘Primary amenorrhoea’
2) Undescended testes causing groin swellings
3) Breast development may occur as a result of conversion of testosterone to oestradiol
What causes the groin swellings in androgen insensitivity syndrome?
Undescended testes
Management of androgen insensitivity syndrome?
1) counselling - raise child as female
2) bilateral orchidectomy (increased risk of testicular cancer due to undescended testes)
3) oestrogen therapy
Why is a bilateral orchidectomy indicated in androgen insensitivity syndrome?
Due to the increased risk of testicular cancer due to undescended testes.
When is a child expected to have a hand preference?
NOT before 12 months old
What does hand preference <12 months old indicate?
Abnormal and may indicate cerebral palsy
At what age should a child be able to pass objects from one hand to another?
6 months
By what age is a child expected to be able to build a tower of 2 bricks?
15 months
By what age is a child expected to be able to copy a vertical line?
2 years old (fine motor skill)
By what age is a child expected to have a good pincer grip?
12 months old (fine motor skill)
In the investigation of acromegaly, what 2 investigations are done?
1st –> Serum IGF-1 levels
If high:
2nd –> OGTT and serial GH measurements to confirm the diagnosis
1st line investigation in acromegaly?
Serum IGF-1 levels
What is the treatment for acromegaly?
Octreotide
In the investigation of acromegaly, if a patient is shown to have raised IGF-1 levels, what test is indicated next?
OGTT with serial GH measurements to confirm diagnosis
What is the 1st line investigation in suspected 1ary hyperaldosteronism?
Plasma aldosterone/renin ratio
What are the 2 key features of 1ary hyperaldosteronism?
1) HTN
2) Hypokalaemia (e.g. muscle weakness or cramps)
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).
What age in females is precocious puberty defined?
The development of 2ary sexual characteristics <8 y/o
What is the 1st line treatment for most patients with a pituitary tumour causing acromegaly?
Trans-sphenoidal surgery
Karyotype vs phenotype in androgen insensitivity syndrome?
Male karyotype (46XY) with female external phenotype.
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.
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).
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
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
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
What is the definitive management of slipped upper femoral epiphysis (SUFE)?
Internal fixation across the growth plate
What is the average age at which a child is able to talk in short sentences (3-5 words)?
2.5-3 years
What hormonal managment is indicated in Turner’s syndrome?
GH therapy (due to short stature).
Given via SC injection.
Inheritance of haemophilia?
X-linked recessive
Management of Kallman’s syndrome?
1) Testosterone supplementation
2) Gonadotrophin supplementation may result in sperm production if fertility is desired later in life
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
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.
What is methylphenidate?
A stimulant medication commonly used for the treatment of ADHD.
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.
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.
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
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
How long before being able to draw a shape are children able to copy it?
Usually 6 months
How is the seasonal flu vaccine usually administered in children aged 2 and 3?
Nasally
How long should honey be avoided for in infants?
Avoided before 12 months due to risk of infant botulism.
What is the cut off for an acceptable weight loss in the first 7 days?
10%
Around what age should a child be able to build a tower block of 3?
18 months
At what age should a child be referred to a paediatrician if they haven’t started to walk?
18 months
Down’s syndrome is associated with the development of which cancer?
ALL
What 2 GI abnormalities is Down’s associated with?
Duodenal atresia + Hirschsprung’s
What is the most common cause of 1ary amenorrhoea?
Turner’s syndrome
What nuchal translucency indicates Downs?
> 6mm
What 2 cardiac abnormalities may be seen in Turner syndrome?
1) Bicuspid aortic valve (leads to aortic stenosis)
2) Coarctation of the aorta
What is the most common renal abnormality in Turner’s?
Horseshoe kidney
How can Down’s syndrome affect the neck?
Can cause atlantoaxial instability
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
Role of GH therapy in Turner’s?
Prevent short stature
Role of oestrogen & progesterone replacement in Turner’s?
Can help establish female 2ary sex characteristics, regulate the menstrual cycle & prevent osteoporosis.
When is the combined test performed?
11-13+6 weeks
When can the triple or quadruple test be performed?
14-20 weeks
Hypospadias is often isolated.
What are 2 conditions that it may be associated with?
Cryptorchidism & inguinal hernia
What murmur is likely to be heard in Turner’s?
Ejection systolic –> due to bicuspid aortic valve
Down’s syndrome and diabetes risk?
No increased risk
What are 4 key features of Patau syndrome (trisomy 13)?
1) Microcephalic, small eyes
2) Cleft lip/palate
3) Polydactyly
4) Scalp lesions
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
What genetic syndrome might you see polydactyly?
Patau syndrome (trsiomy 13)
What are the 3 key features of Prader-Willi syndrome?
1) Hypotonia
2) Hypogonadism
3) Obesirty
What are the 5 key features of Fragile X?
1) Learning difficulties
2) Macrocephaly
3) Long face
4) Large ears
5) Macro-orchidism
What is micrognathia?
When the lower jaw (mandible) is smaller than normal.
In what genetic condition might you see micrognathia?
Edward’s syndrome
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.
What genetic condition are rocker bottom feet seen in?
Edward’s syndrome
How can calcium levels affect eyesight?
Hypocalcaemia is a cause of cataracts
What is the most common cause of inherited neurodevelopmental delay?
Fragile X syndrome
How can you distinguish Down’s syndrone and Edwards/Patau syndrome on combined test?
Similar results but lower hCG
How many phases of growth are there?
4:
1) Pre-natal/intra-uterine
2) Infantile
3) Childhood
4) Pubertal
Which is the most rapid phase of growth?
Pre-natal/intra-uterine
What drives growth in the infantile phase?
1) Nutrition
2) Thyroid hormones
3) Good health & happiness
What drives growth in childhood?
1) GH
2) Thyroid hormones
3) Genes
What drives growth in the pubertal phase?
1) Testosterone/oestrogen
2) GH
What is the average birth weight?
3.3kg
How much weight per day does a child typically gain from day 10 to 3 months?
30g/day
Average head circumference at birth?
35cm
When do teeth typically first appear?
6 months
at what age is weaning typically recommended?
6 months
Typical feed requirements after first week until weaning?
150 mls/kg/day
How may calories does 150ml of milk contain?
110 kcal
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
Maintenance fluid requirements in children?
1st 10kg –> 100mls/kg/day
2nd 10kg –> 50mls/kg/day
3rd & subsequent kg –> 20mls/kg/day
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
Define overweight regarding centiles
> 91st centile
Define obese regarding centiles
> 98th centile
What are the 4 categories of developmental milestones?
1) Gross motor
2) Fine motor
3) Speech & language (incl. hearing)
4) Social
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
What is the upper limit age for sitting (i.e. when does it become a red flag)?
9m
What is the upper limit age for walking?
18m
Causes of a delay in walking?
1) Muscular dystrophy e.g. Duchenne’s
2) Cerebral palsy
3) ‘Bottom shufflers’ - can be normal
What are some developmental warning signs?
1) FH
2) Maternal concern
3) Persisting primitive reflexes
4) Discordant development
5) Regression
At what age should children achieve daytime bladder control?
2-3y
What is encopresis?
Passage of faeces into clothes by day or night
At what age is encopresis abnormal?
After 4y
Define premature
<37w
Define post-mature
> 42w
What % of weight loss in first 10 days in abnormal?
≥10%
At what age are night terrors most common?
4-7y
At what age are nightmares most common?
8-10y
At what age is sleep walking most common?
5-10y
What 5 hormones stimulate the growth plate?
1) GH
2) IGF-1
3) Thyroid hormone
4) Oestrogen
5) PTH
What can inhibit the growth plate? (4)
1) Cytokines
2) Drugs
3) High dose oestrogen
4) Steroids
Where is the growth plate located?
End of the long bones
What testicular volume indicates onset of puberty?
> 4ml
Key investigations in precocious puberty? (2)
1) MRI of the brain
2) Scan pelvis & adrenals
Normal rate of growth of a child?
4-6cm / year
What karyotype is Klinefelter’s syndrome associated with?
47 XXY
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
Inheritance of Kallman’s?
X-linked recessive
What is the clue given in many questions about Kallman’s syndrome?
anosmia in a boy with delayed puberty
