Developmental Medicine Flashcards
What are the three phases of growth and when do they occur?
Infancy: Birth -> 2 years
Childhood: 3 years -> 11 years
Puberty: 12 years -> 18 years
What is plotted on a Growth Chart?
X-axis: Age
Y-axis: Height, weight, head circumference
What is the first phase of growth and what is it driven by?
Infancy, driven by insulin and nutritional factors
What is the second phase of growth and what is it driven by?
Childhood, driven by growth hormone and thyroxine
What is the third phase of growth and what is it driven by?
Puberty, driven by sex steroids and growth hormone
What is SGA and LGA defined by in centiles?
SGA: Less than 10th centile
LGA: More than 90th centile
What is Overweight and Obese defined by in centiles?
Overweight: >85th centile
Obese: >95th centile
How many growth chart records should be taken in the first 1 year of life?
5
How many growth chart records should be taken in a child aged between 1 and 2?
3
How many growth chart records should be taken in a child aged >2?
Annually
When should a GP review a SGA child?
When should a Paediatrician review a SGA child?
If it falls below the 2nd centile - GP
If it falls below the 0.4th centile - Paediatrician
How do you define FTT in a child based on their birth weight?
- 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
What are the 9 UK centile spaces?
0.4th 2nd 9th 25th 50th 75th 91st 98th 99.6th
What is Short Stature defined as?
A child’s height is less than 2 standard deviations below average for their age and sex
How do you calculate Mid-Parental Height for girls / boys?
Girls: Maternal height (cm) + Paternal height (cm) - 14cm / 2
Boys: Maternal height (cm) + Paternal height (cm) + 14cm / 2
What are 7 broad causes for Short Stature?
- Familial Short Stature
- Constitutional Delay in Growth + Development
- Malnutrition
- Chronic Disease i.e. Coeliacs, IBD
- Endocrine Disorders i.e. Hypothyroidism
- Genetic Disease i.e. Down’s Syndrome
- Skeletal Dysplasia i.e. Acondroplasia
In a Child with Constitutional Delay, what is:
- Bone Age wrt Chronological Age
- Growth Velocity
- Bone Age < Chronological Age
2. Growth Velocity is normal
In a Child with Familial Short Stature, what is:
- Bone Age wrt Chronological Age
- Growth Velocity
- Bone Age = Chronological Age
2. Growth Velocity is normal
What is Constitutional Delay in Growth and Development?
A variation on normal development, where there is short stature in childhood and delayed puberty, but normal height in adulthood. “Late bloomers”
What is Tall Stature with respect to Bone Age and Chronological Age?
Bone Age > Chronological Age
What is Familial Tall Stature with respect to Bone Age and Chronological Age, and Growth Velocity?
Bone Age > Chronological Age
Growth Velocity is normal
From what age should a child be able to roll, front to back?
6 months
From what age should a child be able to be pulled to sit up?
3 months
From what age should a child be able to sit without support?
7-8 months
When should you refer a child who cannot sit without support?
12 months
From what age should a child be able to crawl?
9 months
From what age should a child be able to cruise?
12 months
From what age should a child be able to walk with one hand for support?
12 months
From what age should a child be able to walk unsupported?
By 13-15 months
When should you refer a child who cannot walk unsupported?
18 months
From what age should a child be able to squat to pick up a toy?
18 months
From what age should a child be able to run?
2 years
From what age should a child be able to walk up and downstairs holding onto a rail?
2 years
From what age should a child be able to ride a bike?
3 years
From what age should a child be able to hop on one leg?
4 years
From what age should a child be able to reach for an object?
3 months
From what age should a child be able to fix and follow 180 degrees?
3 months
From what age should a child be able to hold in palmar grasp?
6 months
From what age should a child be able to hold in scissor grasp?
9 months
From what age should a child be able to point?
9 months
From what age should a child be able to hold in pincer grasp?
12 months
From what age should a child be able to build a tower of 2?
15 months
From what age should a child be able to build a tower of 3?
18 months
From what age should a child be able to build a tower of 6?
2 years
From what age should a child be able to build a tower of 9?
3 years
From what age should a child be able to scribble?
18 months
From what age should a child be able to draw vertical lines?
2 years
From what age should a child be able to draw a circle?
3 years
From what age should a child be able to draw a cross?
4 years
From what age should a child be able to draw a square or triangle?
5 years
From what age should a child be able to smile?
6 weeks
When should you refer a child who cannot smile?
Refer by 10 weeks
From what age should a child be able to laugh and enjoy friendly handling?
3 months
From what age should a child be able to be curious and engage with people?
6 months
From what age should a child begin being shy and cautious around new people?
9 months
From what age should a child be able to hold a bottle and be fed?
6 months
From what age should a child be able to drink from a cup and begin to use a spoon?
1-1.25 years
From what age should a child be able to use a spoon and fork?
3 years
From what age should a child be able to use a knife and fork?
5 years
From what age should a child be able to play “peek-a-boo”?
9 months
From what age should a child be able to wave “bye-bye”?
12 months
From what age should a child be able to play contentedly alone?
18 months
From what age should a child be able to play near others, but not with them?
2 years
From what age should a child be able to play with other children and interact?
4 years
From what age should a child be able to turn towards sound?
3 months
From what age should a child be able to double syllables?
6 months
From what age should a child be able to say “mama” and “dada”?
9 months
From what age should a child be able to respond to their own name?
12 months
From what age should a child be able to know about 2-6 words?
12-16 months
From what age should a child be able to speak 50+ words?
2 years
From what age should a child be able to speak 200+ words?
2.5 years
From what age should a child be able to talk in short sentences?
3 years
From what age should a child be able to tell stories?
4 years
Give examples of conditions which can cause a Global Delay?
- Down’s Syndrome
- Fragile X Syndrome
- Foetal Alcohol Syndrome
- Rett Syndrome
What is Dyslexia?
Learning disability, difficulty in reading, writing and spelling
What is Dysgraphia?
Learning disability, difficulty in writing specifically
What is Dyspraxia?
Learning disability, developmental co-ordination disorder, more common in boys, with delayed gross and fine motor skills
What is an Auditory Processing Disorder?
Learning disability, difficulty in processing auditory information
What is a Non-Verbal Learning Disability?
Learning disability, difficulty processing non-verbal information such as body language / facial expressions
What is the classification of Learning Disabilities, based on IQ?
Mild LD: 55-70
Moderate: 40-55
Severe: 25-40
Profound: Less than 25
When does Puberty start in females?
From 8-14 years old
When does Puberty start in males?
From 9-15 years old
What is the first sign of puberty in females?
Breast development
What is the first sign of puberty in males?
Enlargement of the testicles
Outline the series of signs of puberty in a female, from onset to the end?
Breast development -> Pubic hair -> Menarche
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
When is the maximum height of a female achieved?
By 12 years old
When is the maximum height of a male achieved?
By 14 years old
What is the classification system used to determine pubertal stages?
Tanner Classification System
Outline what Hypogonadism is?
Hypogonadism refers to a lack of sex hormones Oestrogen and Testosterone
What are some causes of Hypogonadotrophic Hypogonadism? Outline 8 causes
- Damage to the hypothalamus / pituitary gland (radiotherapy, cancer)
- Growth hormone deficiency
- Hypothyroidism
- Hyperprolactinaemia
- Chronic conditions i.e. CF, IBD
- Excessive exercise / dieting
- Constitutional delay
- Kallman’s Syndrome
What are some causes of Hypergondotrophic Hypogonadism? Outline 4 causes
- Damage to the gonads (Testicular torsion, cancer, infections i.e. mumps)
- Congenital absence of Testes / Ovaries
- Kleinfiler’s syndrome 47XXY
- Turner’s syndrome 45X0
What are the
- Initial Investigations
- Hormone tests
- Genetic tests
- Imaging
To test for delayed puberty?
Initial Investigations
- FBC and ferritin for anaemias
- U&Es for chronic kidney diseases
- Anti-TTG / EMA for Coeliacs disease
Hormone tests
- Early morning serum FSH and LH
- Thyroid function tests
- IGF-1 to test for growth hormone deficiency
Genetic tests
- Kleinfelter’s (47 XX7)
- Turner’s (45, XO)
Imaging
- XR of the wrist (Bone age for CDGD)
- Pelvic ultrasound to assess ovaries
- MRI of brain for Pituitary pathology and assess Olfactory bulb (Kallmann’s)
What is the genetic inheritance of Kallmann’s Syndrome?
X-Linked recessive
Outline the pathophysiology of Kallmann’s Syndrome
Failure of the GnRH -secreting neurones to migrate to the hypothalamus
What is the height of patient’s with Kallman’s Syndrome?
Normal or above average height
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
What is Precocious Puberty defined as?
Puberty before 8 in girls
Puberty before 9 in boys
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
Precocious puberty can be caused by two underlying pathologies - describe them? What affect do they have on LH and FSH?
- Gonadotropin dependent - due to premature activation of the HPG axis. High LH and FSH
- Gonadotropin independent - due to excess sex hormones. Low LH and FSH
If there is precocious puberty plus bilateral testicular enlargement, what does this suggest?
Gonadotrophin release from intracranial lesion
If there is precocious puberty plus unilateral testicular enlargement, what does this suggest?
Gonadal tumour
If there is precocious puberty plus a small testicle, what does this suggest?
An adrenal cause
What genetic condition causes precocious puberty?
McCune Albright Syndrome