Growth and development Flashcards
What are the four domains of development?
Gross motor
Fine motor and vision
Hearing and speech
Social
What would you expect a child to be able to do at 6-8 weeks old?
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
What might you expect a child to be able to do at 3-4 months old?
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
What might you expect a child to be able to do at 6-8 months old?
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
What might you expect a child to be able to do at 9 months old?
GM - Crawling (not all), sit without support
FM+V - pincer grip
H+S - Respond to name
S - Stranger anxiety
What might you expect a child to be able to do at 10-12 months old?
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
What might you expect a child to be able to do at 12-18 months?
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
What might you expect a child to be able to do at 2-2.5 years?
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
What might you expect a child to be able to do at 3-3.5 years?
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
What might you expect a child to be able to do at 4-5 years?
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
What are some red flags to development?
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
What is GLOBAL DEVELOPMENTAL DELAY?
This is if you are behind for your age in 2 of the 4 domains
What are some causes of delayed walking?
Parents started walking late - always ask DDH Cerebral palsy Chromosomal abnormalities Spina bifida Genu varum DMD
What are some clinical signs of DMD?
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
What are some causes of speech delay and what should you ask in hx?
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
What are some general causes of global developmental delay?
- Hypothyroidism
- Chromosomal abnormalities
- Fetal alcohol syndrome
- Neurometabolic conditions
- Neuroasphyxia
- PVL (peri-ventricular leukomalacia)
- IVH - Intra-ventricular haematoma
- Head trauma
- Neglect
When should parents start weaning their child?
6 months old
What things should be initially given to the weaning child and what things can only be given after a certain age?
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
What is Turner’s syndrome and at what age will patients usually present?
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
How can Turner’s syndrome present antenatally?
Oedema of the hands and the feet
Cystic hygroma
What are some presenting features of Turner’s syndrome?
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
What other conditions/abnormalities might people with Turner’s syndrome experience?
Congenital heart defects Delayed puberty - another reason for presentation Ovarian dysgenesis Hypothyroidism Renal abnormalities Recurrent otitis media NORMAL INTELLECTUAL FUNCTION
How should we manage Turner’s syndrome and what might be important to tell parents/patients?
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
What is Edward’s syndrome and what are some clinical features?
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
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
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)
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
What is the most common cause of excessive androgens in females?
Congenital adrenal hyperplasia
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
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
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
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
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
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.
How do we categorise precocious puberty?
As being gonadotrophin dependent ‘true precocious puberty’ or gonadotrophin independent ?
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
How do we stage puberty?
Tanner staging
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
What investigation should be done in females with precocious puberty and what will it show?
USS - enlarged uterus and polycystic ovaries
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
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
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
What do we class as DELAYED puberty?
No development by age 14 in girls and 15 in boys
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)
What should you always ask in a history for delayed puberty?
Parental age of puberty
Excessive exercise or dieting
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
What are some features of Klinefelter’s syndrome?
Phenotypically male Delayed puberty Tall Sparse body hair Gynecomastia Infertility Small testes Learning difficulties
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
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
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
What do we define as ‘short stature’?
2 SDs away from mean
What do we measure when assessing the child’s growth?
Height / length Weight Mid parental height Head circumference Bone age
What are some pathological causes of short stature?
Remember most are normal/unconcerning
Dysmorphic, endocrine, chronic system disease, psychosocial
What are some dysmorphic syndromes that cause short stature?
Down Prader Willi Turner's Russel Silver Noonan
What are some endocrine disorders that cause short stature?
Growth hormone deficiency Hypothyroidism Hypopituitarism Cushing's syndrome Pseudohypoparathyroidism
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
What chronic diseases can cause short stature?
Coeliac, chronic renal failure, asthma, CF
STEROIDS - iatrogenic
What psychological factors can cause short stature?
Physical and emotional deprivation
Anorexia
What should you always consider in a short girl?
TURNER’S (neck webbing, low hairlines, shield chest, spoon nails, wide carrying angle)
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
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
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)
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
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
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)
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
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
Why is the vision of the newborn so poor?
Unmyelinated optic nerve and immature fovea
When are adult levels of eye sight reached?
6/6 vision reached at approx 3-4 years
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
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
In what ways can you assess for squint?
- 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
- 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
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
How great does hearing loss have to be to affect developing of speech and language?
At least 60dB
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
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
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
