Milestones
Mother brings 9 year old for. well child visit. She wants to know if he's on target developmentally. What should he be doing?
. Follows one step directions
. Calls parent mama or dada
. Understands no
.Gets to a sitting position and sit without help
Gets to a sitting position and sit without help
What is the diagnosis
LGA, male with hypoglycaemia, all parameters >98%, vitals stable.
PE: posterior auricular pit, macroglossia, palpable liver edge 4cm below margin
.Sotos syndrome
.Beckwith-Wiedemann
.Fragile X
.Achondroplasia
.NF1
.Beckwith-Wiedemann
Extreme hypotonia and failure to thrive during infancy
Childhood-onset hyperphagia and obesity
Unique behavioral characteristics
Cognitive impairment
Hypogonadism
Name the syndrome
Prader Willi syndrome
Length of the palpebral fissure is
Short in fetal alcohol syndrome
Excessively long in _____ syndrome, this syndrome also has short stature, intellectual disability, long palpebral fissures with eversion of lateral portion of lower lid)
Kabuki syndrome
Which age are majority of infants likely to demonstrate reciprocal smile?
2 months
4m look at hands with interest
6m smile in mirror
full colour vision by 5-7m
9m look for object dropped out of hand
12m look for things hidden
5 year old boy with a h/o premature closure of BL coronal sutures here for a physical exam
He has
normal intelligence, Normal hands and feet, Midface hypoplasia and proptosis
What syndrome does he have
Crouzon Syndrome
Peek a boo is a game, which of the following is reinforced through a game of peek a boo?
. Acquition of 10-15words
.Pincer grasp
.Object permanence
.Stranger anxiety
.Ability to wave bye bye
Object permanence
What age should majority of the infants reach for and voluntarily grasp a rattle or toy
6 months
2m briefly open hands
4m hold if directly placed in hand
9m fingers to rake food towards themselves
12m mature pincer grasp
A child is able to hold a cheerio between fingertips or nails of index finger and thumb, with the thumb slightly flexed
12 months, Pincer grasp
2m has involuntary grasp, palmar grasp disappears 3-6m,
4-5m voluntary grasp
9m they are able to rake objects and transfer between hands
15m fingers to feed themselves
Name the syndrome
Intellectual diability
LEarning challenges
Behavioural difficulties
Normal life span
FMR1 gene
CGG repeats in promoter region
Fragile X
Parents of a 29 week premature infant ask about child's prognosis. She was in the NICU for 5 days. At what point will she catch up growth with her term counterparts
2yrs
Which of the following is suggestive of an abnormal neurodevelopment condition
.Moro reflex at 2m
.Rooting reflex at 6m
.Tonic neck response at 2m
.Persistent parachute reflex at 4yrs
.Upgoing babinski at 7m
.Rooting reflex at 6m
Should typically be suppressed by 4m of age
Child can stand and walk holding onto furniture, he can drink from a cup without a lid when it is held, he can wave bye bye and understands "no" looks for things when he sees someone hiding it, is wary of strangers
How old is he
12
Progressive Neurologic. deterioration
Demyelination of white matter
Mutations in ABCD1 gene
Has been added to recs for universal screening in USA and is on our newborn screening Florida
Adrenoleukodystrophy
Build up of VLFCA in CNS and adrenals secondary to peroxisome dysfunction
Types of adrenoleukodystrophy
.childhood cerebral adrenoleukodystrophy, adrenal insufficiency, adrenomyeloneuropathy (affects spinal cord and nerves)
asymptomatic: mutation without symptoms
For CALD- Gene therapy, stem cell transplant can be used to treat diagnosed prior to development or symptoms or if mild
4 month old male should be able to
.roll from back to front
.transfer objects from hand to hand
.lift head to 90 when prone
.sit with support
.lift head to 90 when prone
a:5-6m earliest rolls back to front, but majority is 8-9m
hand to hand 9m
sit with support 6m without 9m
Mother brings son to your office, she is concerned that her similar aged nephew seems more advanced than her son. Her child walks up a few stairs without help, kicks a ball, runs well. She uses a spoon. Can only scribble and make vertical and circular strokes. He is just starting to use 2 word phrases.
How old is he
24 months
In a normal infant which of the primitive reflexes appear between 8-9m of age
Parachute reflex
Moro: birth and disappears by 3-6m
Crossed adductor: tapping of patellar tendon in 1 leg causes contraction of opposite extremity: + at birth disappears by 7m
Hand grasp disappears by 5-6m and toe grasp by 9-12m
Name the syndrome
Thrombocytopenia most severe in infancy, some patients die secondary to haemorrhage from thrombocytopenia
BL absence of radius and abnormalities of ulna
Autosomal reccessive
May have cleft palate, renal abnormalities and congenital heart defects
TAR
Thrombocytopenia absent Radii
Mother of a healthy 30m old asks for advice regarding toilet training her son. He has been continent for urine for 6m but refuses to defecate in the toilet. He screams no when reminded to go and hides to have a bowel movement in his diaper.
What is the most likely cause of refusal?
.Constipatio
.Hyperactivity
.Strong willed child
.Attempting toilet training too early
.Irrational fear of flushing
.Strong willed child
A woman brings her 3yr old grandson to the office as he is not completely toilet trained. She is concerned something is wrong. H/o prematurity and hip dysplasia and otherwise healthy. He has been continent of urine for 6m but is unable to defecate in the toilet. He passes soft stools in. his pull up without discomfort or leakage. Good po and activity levels. Well nourished.
What is this child's condition
.spinal dysraphism
.Hypothyroidism
.Toilet training refusal
.Encoparesis
.Functional constipation
.toilet training refusal
most common cause in a strong willed child
when occurs stop all reminders for toilet training for a few months, if constipated, control that.
once reintroduced, parents should allow child to be completely in control, be consistent and offer +reinforcement.
Don't punish the child for accidents.
Reassure parents child will transition out of diapers