Genetics and Behavioral Pediatrics
Domain focus
Genetics and Behavioral Pediatrics tests dysmorphology, developmental delay, autism, ADHD and genetic counselling. The exam emphasises pattern recognition and timely referral.
Core rules
- Developmental delay: document domains, hearing and vision, and use standardised tools. Global delay with dysmorphism warrants genetic evaluation.
- Autism screening at 18 and 24 months; red flags include no pointing, no response to name, no pretend play and repetitive behaviour.
- ADHD diagnosis requires symptoms in more than one setting, impairment and onset before age 12; behavioural therapy is first-line in young children.
- Genetic testing: karyotype for suspected aneuploidy, chromosomal microarray for unexplained delay, and targeted testing when a syndrome is recognised.
- Counselling must be non-directive and include recurrence risk.
Worked example
A 2-year-old has no words, does not point, and spins wheels repetitively. Arrange audiology and a structured autism evaluation, refer to early intervention, and take a developmental history. Do not wait until school age. If there is dysmorphism or global delay, offer chromosomal microarray after counselling.
Traps
Watchful waiting for language delay; attributing delay to prematurity after 2 years; missing hearing loss; diagnosing ADHD from a single report; promising a genetic diagnosis before testing.