Growth / Development / Gait + WRAP UP Flashcards
What is the earliest sign of puberty in girls?
Breast budding
What is the earliest sign of puberty in boys?
Testicular enlargement
When does puberty usually occur in girls?
8-13 (growth spurt at 12.5)
When does puberty usually occur in boys?
9-14 (growth spurt at 14.5)
What is ‘true’ puberty in girls and boys?
GIRLS = THELARCHE (breast development) BOYS = increased testicular enlargement
What hormones are important in pubertal development?
Androgens / DHEA (converted to testosterone or estrogen in peripheral tissues) = sexual hair development, apocrine secretion (BO), skin oiliness
- LH, FSH
- Estrogen, progesterone
What questions are important to ask when assessing delayed puberty?
- FHx of puberty
- Onset and progression of pubertal characteristics (hair, breast development, genital enlargement, acne)
- Look for chronic disease
What is true precocious puberty?
- Pubertal development <8 in girls <9.5 in boys
- CENTRAL activation with raised gonadotrophins
- Usually caused by brain tumour
What is premature adrenarche?
Signs of adrenarche in girls <8 boys <9
- Sexual hair development, apocrine secretion (BO), skin oiliness
- Idiopathic premature adrenal adrenergic secretion
- PERIPHERAL activation
- Usually caused by CAH
What is the definition of delayed puberty?
Absence of any pubertal development (secondary sexual characteristics) in girls and boys >14 years
What are the most common causes of delayed puberty?
With normal gonadotrophins?
- Constitutional delay
- Endocrine causes (hypopituitarism, hypothyroid, hypoprolactinaemia)
- Chronic illness
- Poor nutrition
With HIGH gonadotrophins? (this means end-organ dysfunction - high FSH and LH, low testosterone/estrogen)
- Gonadal dysgenesis (chromosomal (XXY, X), gonadal damage (radiation, mumps, torsion), autoimmune disease)
What investigations are required in delayed puberty?
- FBC with CRP, ESR
- LFTs
- TFTs
- FSH, LH, testosterone/estradiol
- Prolactin
- Coeliac screen
- Bone age X-ray
What is the most common cause of precocious puberty?
Hypothalamic hamartoma
What investigations are required in precocious puberty?
- Refer to paed endo
- FSH, LH, testosterone / estradiol
- Dynamic gonadotrophin secretion
- Bone age
- Pelvic ultrasound
- Brain imaging
What is premature thelarche?
Isolated breast development
- rule out exogenous causes e.g. creams
- relatively common >2years
What is premature adrenarche? What are the common causes?
- ANDROGENS from somewhere
- May be normal
- CAH
What are some determinants of child growth?
Genetic factors
Nutrition
Chronic illness
What is the definition of failure to thrive?
Failure to grow normally, drop off in weight centiles followed by drop off in height centiles
How is short stature defined? What are some causes of short stature?
Below 3rd centile for age and sex
- Genetics/familial short stature
- Constitutional delay
- IUGR
- Chronic illness
- Iatrogenic (steroids, radiation)
- Skeletal dysplasia
- Chromosomal abnormality / syndrome
- Endocrine (GH deficiency, hypothyroidism)
What is bone age? How is it determined?
Degree of bone (epiphysial) maturation
- Xray of left hand/fingers/wrist and interpreted using an atlas
- Child’s current height and bone age can be used to predict adult height
What does an ‘advanced’ bone age indicate? What does a ‘delayed’ bone age indicate?
ADVANCED: Prolonged elevation of sex steroids (CAH, precocious puberty)
DELAYED: Variation of normal hormonal development (constitutional delay), GH deficiency, hypothyroidism, malnutrition
What investigations are required in a child with short stature?
Investigate if there is a chromosomal abnormality of height velocity is slow - Plot height/weight/HC FBC and ESR (chronic disease) Urinalysis + MCS (infection, chronic kidney disease) CMP TFTs Coeliac screen (tissue transglutaminase) IGF-1 (screen for GH deficiency) Bone age xray of hands/wrist/fingers
How do you calculate mid-parental height?
Add parent’s heights, divide by 2, add 7cm for boys, subtract 7cm for girls
What is the difference between familial short stature and constitutional short stature?
Familial: FHx short stature, normal height velocity, normal age of puberty, normal bone age, final height short but appropriate
Constitutional: boys more common, FHx pubertal delay, normal height velocity, puberty delayed, bone age delayed, normal final height
What are the different kinds of gait?
Antalgic (joint issue, bone issue #, inflam, cancer)
Ataxic (cerebellar, vestibular)
Weakness (duchenne, becker)
Abnormal muscle tone
Trendelenburg (Perthe’s, DDH, slipped capital femoral epiphysis)
High-step (foot drop)
Toe-walking (cerebral palsy, idiopathic)
What is Gower’s sign and what disease is it indicative of?
Using hands to ‘walk’ up their body from a squatted position due to proximal muscle weakness
- Duchenne’s muscular dystrophy
What are you expecting if the kid is short and relatively overweight?
Endocrinopathy - GH, pituitary, thyroid, cushings
Dysmorphic - short limbs - achondroplasia
- Downs
What are you expecting if the kid is short and very underweight?
Not dysmorphic
- Intrauterine deficiency (IUGR, FASD)
- Chronic illness - renal/heart/lungs/IBD
- Nutritional deficiency - malabsorption, environmental
Dysmorphic
- Noonan, Turner
What are the clinical features of Turner’s syndrome?
Wide spaced nipples, low hairline, webbed neck, low birth weight, difficult to feed in infancy, middle ear disease, poor concentration, coarctation
How do you tell the difference between GH deficiency and constitutional delay on growth chart?
Constitutional delay have normal growth rate
GH deficiency have slow growth rate that drops off, children often appear younger than their stated age and frequently appear chubby (weight age > height age), delayed bone age
What investigations are required if you suspect GH deficiency?
IGF-1
GH stimulation testing
Bone age
What are the most common causes of limp in very young children?
Transient synovitis, DDH
All ages: Infections (osteomyelitis, septic arthritis), osteosarcoma, discitis, trauma, non-accidental injury
What are the most common causes of limp in children aged 4-10yrs?
Transient synovitis, Perthes, Ewing’s sarcoma
All ages: Infections (osteomyelitis, septic arthritis), osteosarcoma, discitis, trauma, non-accidental injury
What are the most common causes of limp in adolescent children?
Slipped capital femoral epiphysis, JIA, osteosarcoma
All ages: Infections (osteomyelitis, septic arthritis), discitis, trauma, non-accidental injury
What are the most common causes of limp in children of all ages?
Infections (osteomyelitis, septic arthritis), osteosarcoma, discitis, trauma, non-accidental injury
Compare and contrast osteosarcoma and Ewing’s sarcoma
Osteosarcoma: “arises from mesenchymal cells, occur at sites of bone growth”, metaphysis prior to epiphyseal closure,
- Usually distal femur, proximal tibia
- Older children, most common, males>females
- ‘Sunburst’ appearance on x-ray (spicules of new bone)
- Associated with retinoblastoma, Paget’s disease of the bone and radiotherapy
Ewings: “blue cell tumour”, diaphysis
- Usually mid-proximal femur, also pelvis
- Younger children, less common
- Destructive lesion on x-ray
Describe Ortolani and Barlow’s manouvres
Barlow: identifies unstable hip that can be passively dislocated
- Abduct and flex hip to 90, push leg posterior to push femoral head out of socket
- Palpable
Ortolani: determines whether hip is actually dislocated
- Flex hip to 90, relocate hip by abducting hip and pushing anteriorly
- Positive if hear audible clunk of reduction
**Confirm with ultrasound
What is the difference between a hip that is reducible vs. irreducible?
Reducible: O and B positive
Irreducible: already dislocated and cannot relocate
- Needs closed reduction
What are the management options for DDH?
Dislocated but reducible = Pavlik Harness
Dislocated non-reducible = Sx Closed reduction
How will DDH present in a child >12months?
Trendelenburg gait
Uneven knee height
Uneven creases
What is Legg-Calves-Perthes disease? How does it present? How is it diagnosed?
Idiopathic vascular impairment of the femoral head –> avascular necrosis
Common symptoms: Persistant hip pain, knee, thigh or groin pain (radiation), limp or wasting, limited ROM, leg shortening
Dx: x-ray
What is slipped capital femoral epiphysis? How does it present?
A separation of the femoral head from the neck/shaft due to a weakness in the proximal femoral growth plate
Clinical features: Groin or knee pain (referred pain), unable to weight bear, trendelenburgʼs gait with external
rotation of affected foot
What are the risk factors for DDH?
First born Female (80%) Family history Feet first (breech) - need to confirm with U/S for first FOUR months
What are some causes of developmental delay?
Prenatal ○ Chromosomal e.g. fragile X, trisomy ○ Metabolic e.g. PKU ○ Drugs / alcohol Perinatal ○ Asphyxia - hypoxic ischaemic encephalopathy Postnatal ○ Head injury ○ Encephalitis ○ Poison e.g. Pb overdose
What investigations are required for developmental delay?
HEARING AND VISION!!! Full developmental assessment (Bailey's, Griffiths, IQ testing Bloods – genetic/TFT/Pb/nutrition ENT / sleep study Ophthalmology Neurology?/Imaging? ? Regression
What conditions are associated with developmental delay?
Epilepsy GORD Vision/Hearing Poor sleep Dentition Thyroid Disease Aspiration Osteoporosis /deformities
What are the 3 primary features of autism spectrum disorder?
- Language regression
- Social aspects - no protodeclarative pointing, no social/emotional reciprocity, non-verbal communication
establishing, maintaining relationships - Obsessive behaviours/unusual interests (tics, lining up, echolalia, insistence on sameness, narrow intense interests, sensory issues)
+/- hand flapping (self-stimulating behaviours)
What are some early signs of autism?
Not responding to their name
Language regression
Poor social skills
Lack of proto-declarative pointing
What are the treatment options for autism?
Needs early intervention Social supports Speech pathology OT Counselling/behaviour modification
What are the three primary features of ADHD?
- Attention deficit
- Hyperactivity
- Impulsivity
How is ADHD assessed / diagnosed?
- Needs to occur at both school and home
- School reports / counsellor assessment
- Needs IQ assessment
- Learning assessment
What are the treatment options for ADHD?
Routines! ++
Classroom support
Behavioural management (OT/psych)
Medication
What are some causes of enuresis?
Remember can be primary and secondary
- Idiopathic
- Poor arousal (heavy sleeper)
- Nocturnal polyuria (decreased ADH)
- Overactive bladder
- Diabetes, diabetes insipidus
- UTI
- Constipation
- Epilepsy
- Social stressors, abuse
- Poor fluid intake
What examination and investigations would you do for enuresis?
Examination: lumbosacral spine, LL, constipation Urinalysis & MCS BSL Renal tract ultrasound ADH levels
What are the treatment options for enuresis?
NO TRT - may grow out
Non-pharmacological
- Pad and bell (enuresis alarm)
- Bladder training and water restriction during evening, empty bladder before bed
Pharmacological
- ADH (desmopressin) **not curative, make sure to take very little fluid before and after, good for overnight trips
What are some causes of chronic constipation?
Hypothyroidism, hypocalcaemia Low fibre diet, dehydration Coeliac disease Hirschsprung's disease FUNCTIONAL: Painful pooping --> fearful pooping --> with-holding --> more build up -->
What questions are important to ask during the history of chronic constipation?
Passage of meconium Recent onset? Diet Stress - school, recent illness Urinary incontinence
What examination and investigations would you do for chronic constipation?
Abdo exam with anorectal tone, inspect perianal area / lumbosacral region
Pelvic ultrasound - rectal diameter
TFT, CMP, Coeliac screen
Spinal imaging
Bacrium enema/rectal biopsy for Hirschsprung’s
What are the treatment options for chronic constipation?
Stool softeners!! Movicol (osmolax ++), lactulose
Bowel stimulants
Toilet training (encourage enterocolic reflex, good posture)
Disempaction
How do you break down the causes of failure to thrive?
Decreased intake
Poor absorption
Increased requirements (chronic disease)
Psychosocial factors
What are some red flags for speech development?
Red flags for speech development include:
• loss of developmental skills at any age
• no vocalising by 3 months
• no babbling by 10 months, and
• not responding to name by 12 months.
What is Kallman’s syndrome?
Hypogonadotrophic hypogonadism
Genetic disorder
Hypothalamus does not release GnRH
S&S: delayed puberty, anosmia (impaired growth of olfactory bulb)
