Milestones
Genetics
Misc
Red Flags
100

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

100

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

100
  • 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

100

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

200

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

200

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

200

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

200

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

300

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

300

Name the syndrome

Intellectual diability

LEarning challenges

Behavioural difficulties

Normal life span

FMR1 gene

CGG repeats in promoter region 

Fragile X

300

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 


300

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

400

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

400
X-linked

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

400

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

400

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

500

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

500

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


500

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

500

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