General Paediatrics Flashcards
What is the gene mutation for cleidocranial dysplasia?
RUNX2
When are grommets indicated?
Chronic bilateral otitis media >3 months with effusion and hearing impairment.
Which listed conditions is more frequent in older fathers?
A. Crouzon syndrome
B. Goldenhar syndrome
C. Stills disease
D. Chediak Higashi syndrome
A - Advanced paternal age means sperm are more likely to develop mutations (FGFR3 and FGFR2) - Achondroplasia, Apert syndrome, Pfeiffer syndrome, Crouzon syndrome
Diagnostic criteria for POTS
Increase HR by >40bpm within 10 minutes of moving from supine to upright position
Heart rate >130bpm
Symptomatic
Why do you get acrocyanosis in POTS?
Autonomic dysreflexia
What is the organism associated with fried rice syndrome?
Bacillus cereus
Indication for CT brain after trauma?
Focal neurological findings
Skull fracture
Seizure
Persistent alternate mental status
Prolonged loss of consciousness
What is the rate of ITP following MMR vaccine within 6 weeks of vaccination?
1 in 25000
To be diagnosed with intellectual disability what does a Childs IQ have to be?
Approximately two standard deviations or more below the population, which equals an IQ score of about 70 or below.
What are some warning signs for a diagnosis of autism?
Little sound play or babbling as infant,
- Limited consonant sounds or vowel distortions as toddler
Poor verbal imitation skills
- Reliance on direct model and prompting
Small vocabulary for age; less diverse verb repertoires
Comprehension delay >6m relative to chronologic age
Few communicative gestures and not pointing
Impaired social skills or behaviour problems
Interactions with adults more than peers
Immature play skills; little pretend play
What are the two criteria for a diagnosis of autism?
A. Persistent deficits in social communication and social interaction across multiple contexts (3/3)
- Deficits in social emotional reciprocity
- Deficits in non verbal communicative behaviours used for social interaction
-Deficits in developing, maintaining, and understanding relationships
B. Restricted, repetitive patterns of behavior, interests, or activities (2/4)
- Stereotyped or repetitive motor movements, use of
objects, or speech
- Insistence on sameness, inflexible adherence to routines, or ritualized patterns or verbal nonverbal behavior
- Highly restricted, fixated interests that are abnormal in intensity or focus
- Hyper- or hyporeactivity to sensory input or unusual interests in sensory aspects of the environment
C. Symptoms must be present in the early developmental period (but may not become fully manifest until social demands exceed limited capacities or may be masked by
learned strategies in later life).
D. Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning.
E. These disturbances are not better explained by intellectual disability (intellectual developmental disorder) or global developmental delay. Intellectual disability and autism spectrum disorder frequently co-occur; to make comorbid diagnoses of autism spectrum disorder and intellectual disability, social communication should be below that
expected for general developmental level.
Common side effect of risperidone?
Weight gain
What are the key features of ADHD?
Hyperactivity
Inattention
Impulsivity
What type of medication is gaunfacine?
Alpha2A adrenergic receptor agonist
What are the strongest predictors of outcome in ASD?
Intellectual IQ and functional speech and communication
