Growth and development Flashcards

1
Q

What are the four domains of development?

A

Gross motor
Fine motor and vision
Hearing and speech
Social

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2
Q

What would you expect a child to be able to do at 6-8 weeks old?

A

GM - Might be making attempts at holding head (raise to 45 degrees)
FM+V - Fixing and following
H+S - Startle to loud noises
S - SMILING

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3
Q

What might you expect a child to be able to do at 3-4 months old?

A

GM - Support own head, look up when lying on abdomen, held sitting with curved spine
FM+V - Reaching out for toys
H+S - Single syllable vocalisation when alone or when spoken to
S - Laughs, enjoys friendly handling

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4
Q

What might you expect a child to be able to do at 6-8 months old?

A

GM - Roll over, sit without support, held sitting with straight spine, pull to standing
FM+V - Palmar grasp, might transfer from hand to hand and have immature pincer grip
H+S - Double syllable babbling and responding to own name, shouts
S - Not shy

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5
Q

What might you expect a child to be able to do at 9 months old?

A

GM - Crawling (not all), sit without support
FM+V - pincer grip
H+S - Respond to name
S - Stranger anxiety

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6
Q

What might you expect a child to be able to do at 10-12 months old?

A

GM - Cruising (10/12), First steps
FM+V - Points, mature pincer, looks for fallen objects, casting, banging objects together
H+S - 2-3 recognisable words
S - waving, clapping, drinking from beaker

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7
Q

What might you expect a child to be able to do at 12-18 months?

A

GM - walk steadily and possibly run at 18/12, squats at 15/12, stairs 2 feet
FM+V - 12/12 - 2 cubes, 18/12 - 4 cubes,
H+S - Repeat name, knows 6-10 words, might know body parts at 18/12
S - Eats with spoon by self

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8
Q

What might you expect a child to be able to do at 2-2.5 years?

A

GM - Run, jump and kick ball
FM+V - 6-8 cubes in tower,
H+S - use 2 words together, use pleurals and verbs
S - Become skilful with spoon

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9
Q

What might you expect a child to be able to do at 3-3.5 years?

A

GM - Rides a tricycle, uses stairs with handrail
FM+V - Can make a bridge or tower of 9
H+S - Sentences, gender, adjectives and colour, count to 10
S - Use fork and spoon, dress self under supervision, continence and plays alone

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10
Q

What might you expect a child to be able to do at 4-5 years?

A

GM - Hop, skip and use a climbing frame
FM+V - 4 = copies cross, 5 = copies square and triangle
H+S - Asks ‘why’, ‘when’ and ‘how’ questions
S - Knife and fork, dress independently (not laces and buttons) and plays with other children

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11
Q

What are some red flags to development?

A

Not sitting without support by age 9 months
Not walking by age 18 months
REGRESSION - should never LOSE SKILLS
Hand preference before 18m (Cerebral palsy)
Persisting primitive reflexes beyond 6m

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12
Q

What is GLOBAL DEVELOPMENTAL DELAY?

A

This is if you are behind for your age in 2 of the 4 domains

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13
Q

What are some causes of delayed walking?

A
Parents started walking late - always ask 
DDH 
Cerebral palsy 
Chromosomal abnormalities 
Spina bifida
Genu varum
DMD
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14
Q

What are some clinical signs of DMD?

A

CENTRAL WEAKNESS - ask the child to lie on the floor and then ask them to get up - if they walk up on their hands and feet suggests DMD

It is X-linked recessive

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15
Q

What are some causes of speech delay and what should you ask in hx?

A

Hearing impairment - all newborns should have hearing assessment so always check for this in red book
Multiple languages spoken at home - not pathological
Structural - tongue tie, cleft palate

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16
Q

What are some general causes of global developmental delay?

A
  • Hypothyroidism
  • Chromosomal abnormalities
  • Fetal alcohol syndrome
  • Neurometabolic conditions
  • Neuroasphyxia
  • PVL (peri-ventricular leukomalacia)
  • IVH - Intra-ventricular haematoma
  • Head trauma
  • Neglect
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17
Q

When should parents start weaning their child?

A

6 months old

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18
Q

What things should be initially given to the weaning child and what things can only be given after a certain age?

A

Start with pureed fruit, root vegetables and rice, gradually increase amount and variety
AVOID eggs, wheat and fish before 6/12
AVOID cow’s milk until 12 months
AVOID honey until 12 months - has bacteria in that can cause botulinism
AVOID sugary snacks, salty foods, soft cheeses, unpasteurised products and shellfish

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19
Q

What is Turner’s syndrome and at what age will patients usually present?

A

45XO
If clinical features aren’t severe a patient will usually present at around the age of puberty wondering why they aren’t developing the same as their peers

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20
Q

How can Turner’s syndrome present antenatally?

A

Oedema of the hands and the feet

Cystic hygroma

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21
Q

What are some presenting features of Turner’s syndrome?

A
Lymphoedema of hands and feet 
Spoon shaped nails (also with B12 def)
Short stature - cardinal feature and often reason for presentation
Neck webbing 
Low set ears 
Low hairline
Shield chest 
Widely spaced nipples
Wide carrying angle 
Pigmented moles
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22
Q

What other conditions/abnormalities might people with Turner’s syndrome experience?

A
Congenital heart defects 
Delayed puberty - another reason for presentation 
Ovarian dysgenesis
Hypothyroidism 
Renal abnormalities 
Recurrent otitis media 
NORMAL INTELLECTUAL FUNCTION
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23
Q

How should we manage Turner’s syndrome and what might be important to tell parents/patients?

A

GROWTH HORMONE can be given to encourage normal stature
Oestrogen replacement therapy to encourage secondary sexual characteristics in females

Let parents know there is NO correlation between 45XO and maternal age
Risk of recurrence is very small

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24
Q

What is Edward’s syndrome and what are some clinical features?

A
Trisomy 18
Low birth weight
Prominent occiput 
Small mouth and chin (micrognathia)
Low set ears 
Rocker bottom feet 
Short sternum 
Flexed, overlapping fingers 
Cardiac and renal abnormalities
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25
What is Patau's syndrome and what are some abnormalities?
``` Trisomy 13 Structural defects of the brain Scalp abnormalities Cleft palate Polydactyly Microcephaly with small eyes ```
26
How does sexual differentiation happen in utero and what can occur if this goes wrong?
Fetal gonads initially ambiguous - expression of SRY on Y chromosome causes male genitalia to develop. If not expressed then female develops If this doesn't occur properly then there can be some DISORDER OF SEXUAL DEVELOPMENT (DSD)
27
What are some causes of DSD?
Excessive androgens causing virilisation in females Inadequate androgens causing under-virilisation in males Gonadotrophin insufficiency Ovotesticular disorders of sexual development
28
What is the most common cause of excessive androgens in females?
Congenital adrenal hyperplasia
29
What are some causes of lack of androgens in males?
Inability to respond to androgens (androgen insensitivity syndrome) or failure to convert testosterone to dihydrotestosterone or failure to produce any at all from cholesterol
30
In what common syndrome is gonadotrophin insufficiency seen and what is involved in this syndrome?
Prader-Willi syndrome 15q11-13 deletion IMPRINTING GENETIC DISORDER - depends on which copy of gene deletion is on - if Mother it is Angelman's FEATURES: Hypotonia, Hypogonadism, obesity, learning difficulties, small stature, infertility
31
What is the most common cause of sexual ambiguity? How does it occur and what are some features?
Congenital adrenal hyperplasia in the female Insufficiency of enzyme 21-hydroxylase leading to failure in cortisol synthesis Aldosterone also can't be produced so there is excessive salt loss ***due to low cortisol and aldosterone ACTH produced in excess from pit gland and the adrenal becomes hyperplasia and produces excess androgens FEATURES: Clitoral hypertrophy, Variable fusion of labia, Enlarged penis/scrotum, Salt-losing crisis (excessive vomiting at 1-3 weeks old). Males who go so far unnoticed will have tall stature, adult body odour and be muscular
32
How is CAH detected?
``` Usually found by detecting high levels of precursor 17-alpha-hyroxymethylprogesterone in blood OR in salt losers - Low sodium - High potassium - Metabolic acidosis - Hypoglycaemia ```
33
How is CAH managed?
FEMALES - will often be given surgery to correct their external genitalia - they will often have a uterus and ovaries so it is generally recommended to raise them as female and they are fertile MALES - will often present in salt-losing crisis. Need to give them dextrose and IV saline as well as hydrocortisone IV to suppress ACTH axis LONG TERM - Lifelong glucocorticoids to suppress ACTH, mineralocorticoids if salt losing and monitoring of their growth, skeletal development and plasma androgens
34
How can CAH be prevented?
it is likely to recur in same parents | Can give dexamethasone around the time of conception to suppress fatal ACTH drive and stop development of CAH.
35
How do we categorise precocious puberty?
As being gonadotrophin dependent 'true precocious puberty' or gonadotrophin independent ?
36
What is classed as precocious puberty in boys and girls?
Development of secondary sexual characteristics younger than the age of 8 in girls and the age of 9 in boys
37
How do we stage puberty?
Tanner staging
38
What causes precocious puberty?
Premature activation of the hypothalamic-pituitary axis (associated with phenylketonuria) Other organic causes include - Dissonance (isolate sexual characteristics usually due to CAH) - Rapid onset - Neurological symptoms e.g. neurofibromatosis
39
What investigation should be done in females with precocious puberty and what will it show?
USS - enlarged uterus and polycystic ovaries
40
How common is precocious puberty in boys and what is usually the cause?
Much less common than in females There is usually an organic cause e.g. intracranial lesion Investigate with MRI
41
What examinations should be done in boys with precocious puberty?
TESTES - Bilateral enlargement suggests gonadotrophin release from an intracranial lesion - SMALL suggests adrenal cause e.g. tumour or hyperplasia - UNILATERALLY LARGE - gonadal tumour
42
How should precocious puberty be managed?
Important principle is to reduce the rate of skeletal maturation - early growth can lead to very small stature in later life Sex hormone inhibitors - Medroxyprogesterone acetate, cyproterone acetate, testolactone ketconazole
43
What do we class as DELAYED puberty?
No development by age 14 in girls and 15 in boys
44
In whom is the problem more common and what is the usual cause?
Much more common in boys | Constitutional Delay of Growth and Puberty (CDGP)
45
What should you always ask in a history for delayed puberty?
Parental age of puberty | Excessive exercise or dieting
46
What are some other causes of delayed puberty?
Hypogonadotrophic hypogonadism - Systemic disease (CF, Coeliac, asthma, crohn's) - Panhypopituitarism, isolated gonadotrophin or GH def. - Intracranial tumours - Kallman's syndrome (LRHR def. and inability to smell) - Hypothyroidism Hypergonadotrophic hypogonadism - chromosomal abnormalities e.g. Klinefelter's or Turner's - Steroid hormone enzyme def - Acquired gonadal damage
47
What are some features of Klinefelter's syndrome?
``` Phenotypically male Delayed puberty Tall Sparse body hair Gynecomastia Infertility Small testes Learning difficulties ```
48
How should delayed puberty be investigated in boys and girls ?
BOYS - Pubertal staging (testicular volume), identification of chronic disease GIRLS - Karyotyping, sex hormone, thyroid hormone
49
How can we managed delayed puberty?
OXANDRALONE - offered in males. Will cause some catch up growth but will not lead to development of secondary characteristics. If older give Low dose IM testosterone Females can be treated with oestradiol
50
What are the four main phases of growth in childhood and which is the fastest velocity?
Foetal - fastest Infancy - affected by nutrition, happiness and thyroid Childhood Pubertal
51
What do we define as 'short stature'?
2 SDs away from mean
52
What do we measure when assessing the child's growth?
``` Height / length Weight Mid parental height Head circumference Bone age ```
53
What are some pathological causes of short stature?
Remember most are normal/unconcerning | Dysmorphic, endocrine, chronic system disease, psychosocial
54
What are some dysmorphic syndromes that cause short stature?
``` Down Prader Willi Turner's Russel Silver Noonan ```
55
What are some endocrine disorders that cause short stature?
``` Growth hormone deficiency Hypothyroidism Hypopituitarism Cushing's syndrome Pseudohypoparathyroidism ```
56
What is a good way to remember which hormones are produced in which part of the pituitary ?
FLAT PIG FLAT PIG (anterior): FSH, LH, ACTH, TSH, Prolactin, Growth hormone Posterior - ADH and oxytocin
57
What chronic diseases can cause short stature?
Coeliac, chronic renal failure, asthma, CF | STEROIDS - iatrogenic
58
What psychological factors can cause short stature?
Physical and emotional deprivation | Anorexia
59
What should you always consider in a short girl?
TURNER'S (neck webbing, low hairlines, shield chest, spoon nails, wide carrying angle)
60
If a child presents with short stature what are some really important things to ask in the history?
``` Timing and duration of growth failure Pregnancy and birth history FH - congenital conditions, parents height, siblings PMH - chronic disorders DH- Steroids FOOD hx SH - how's home, school, anxiety ```
61
What should be included in your examination of a child with short stature?
Height, weight, OFC (occipital-frontal circumference), appearance Signs of endocrine disease (cushingoeid or thyroid) Puberty staging
62
What investigations should you do in a child with short stature?
Pit screen - hormones FBC, U&E, LFT, TFT, Hormones, Vit D, haemantinics, anti TTG, IgA Karyotyping Endocrine stimulation - Synacthen (adrenal), Dexamethasone suppression, glucagon stimulation (growth hormone)
63
What are some important investigations to do in a child who you suspect might be malnourished?
ANTHROPOMETRY - skin fold thickness over triceps muscle - Upper arm circumference (if <115mm - severe malnutrition) - Weight for height - if more than 3 SDs away from the mean then severe malnutrition
64
How should we manage malnourished children?
Always try enteral feeding first which can be done either nasogastrically or via gastrostomy If this isn't sufficient or there are concerns about absorption then we should consider parenteral feeding
65
What is marasmus and what causes it?
This is when the child appears very thin, they are wasted, can see bones. it is caused when there is deficiency in all energy types (incl protein)
66
What is Kwashiorkor and what causes it?
This is when there is severe protein deficiency | Child is ascitic, has dry, unusually pigmented skin, swollen ankles, thin, dry hair and moon phase
67
How should we manage severe malnutrition?
- Correct hypoglycaemia and electrolyte abnormalities - Wrap up warm - Rehydrate but conservatively (fluid overload can lead to heart failure) - Vitamin A really important Start foods that are low in proteins (high protein won't be tolerated initially) Formula 75 then Formula 100
68
Why is the vision of the newborn so poor?
Unmyelinated optic nerve and immature fovea
69
When are adult levels of eye sight reached?
6/6 vision reached at approx 3-4 years
70
What is a squint and when should we consider resolving them?
Misalignment of the visual axis - consider re-aligning at 12 weeks if they have not self-resolved
71
What categories of squint are there?
CONCOMITANT - most common. Non-refractive error, corrected with glasses, squinting eye is usually convergent PARALYTIC - Paralysis of motor nerves, varies with gaze direction, ?SOL MANIFEST OR LATENT - is it there all the time or does it only come on with specific movement
72
In what ways can you assess for squint?
1. CORNEAL LIGHT REFLEX - shine light and see whether it is reflected in the same place on both corneas. Can also assess for red reflex at this point as well 2. COVER TEST. Get patient to focus on something in distance. Cover fixing eye then see if squinting eye adjusts - Normal eye should have no movement - Then repeat this with child looking at near object
73
What are some causes of visual impairment/blindness in the child?
Genetic: T21, CHARGE syndrome Congenital: Cataracts, albinism, retinal dystrophy, retinoblastoma, congenital infection (CMV or RUBELLA) Antenatal/perinatal: Retinopathy of prematurity, oxygen supply in newborn can lead to this - retinal vessel proliferation, HIE, Cerebral damage, optic nerve hypoplasia Post-natal: Trauma, infection , JIA/optic neuritis
74
How great does hearing loss have to be to affect developing of speech and language?
At least 60dB
75
What are some causes of sensorineural hearing loss?
INHERITED - Connexin 26, Usher's syndrome, Waardenberg syndrome ACQUIRED - Birth asphyxia, hyperbilirubinaemia, CMV, RUBELLA, SYPHILIS Post-natal - drugs (aminoglycosides), meningitis, head injury, labrynthitis, acoustic neuroma
76
What are some causes of conductive hearing loss?
External ear abnormalities (ear canal atresia / stenosis), middle ear abnormalities, acute otitis media, chronic otitis media, secretory otitis media
77
Who does fragile X syndrome occur in and what are some features?
BOYS - X-linked recessive. CCG repeat in FMR1 gene (>200 is full mutation) FEATURES: learning difficulties, macrocephaly, macro-orchidism, large everted ears, prominent mandible, broad forehead, mitral valve prolapse, joint laxity, scoliosis, autism, hyperactivity