What is ASD?
Neurodevelopmental disorder with social-communication challenges and stereotyped behaviors.
Symptoms
Social interaction difficulty, restricted interests, sensory sensitivities.
Genetic causes
CNVs, monogenic mutations and polygenic factors.
Inheritance pattern
Variable and multifactorial.
Important genes
SHANK3, CHD8, MECP2, FMR1.
Who should be tested?
All children with a confirmed ASD diagnosis.
Recommended tests
Microarray, Fragile X and WES.
Counseling
Recurrence risk estimation and interpretation of findings.