Paeds Flash Cards
Age needed for conduct disorder? What is it called before this?
7
Oppositional defiant disorder
Egs of trinucleotide repeat disorders?
Hungtingtons
Fragile X
Myotonic dystrophy
Gene in fragile X?
FRAXA gene - FMR1
3 hallmarks of ADHD
Inattention
Hyperactivity
Impulsiveness
How long features of ADHD for diagnosis? Age?
6/12
Pervasive features and onset <7
3 conditions with high rates of autism
Fragile x
TS
Untreated phenylketonuria
Rettes syndrome in? Natural Hx? Features? Diagnosis?
X linked disorder almost exclusively in girls
Normal development - 5 months onwards head grows slow
Decreased interest in social activities
Impaired communication + psychomotor retardation
Stereotyped movements develop Eg hand wringing
Sequencing of MECP2 gene mutations
Age if enuresis
At least 5
Two types of allergy?
IgE mediated - Eg peanut allergy
Non IgE - Eg coeliac
Mechanism of allergy ?
Body identifies allergen and APC presents to TH2 cells
- > release cytokines -> B-Cells make IgE
- > IgE presents to mast cells
Immediate and delayed reaction to allergen?
Immediate
Degranulation of mast cells -> produce histamine (also basophils)
Delayed
After 4-6 hours eosinophils
Ix for allergy?
Skin prick testing
- quick cheap and safe
- positive test only gives 60% chance of true reaction (use Hx)
Serum specific IgE (RAST) testing
Food challenge
-Gold standard
Mx of Allergy’s
MDT Avoid allergen Antihistamines -Piriton -piriteze (non-drowsy)
What is uticaria? Also called? How long? Usual cause?
Itchy rash ‘nettle rash’ Hives
Chronic is >6weeks but can be acute
Usually idiopathic
IgE mediated - Food, infection, NSAIDS, heat ….
Heart defect in Williams
Supraventricular AS