History Taking: Pregnancy, delivery, developmental history, family history.
Physical Examination: Look for dysmorphic features, neurological signs, developmental delays.
Psychological Assessment: IQ testing (Stanford–Binet, Wechsler Intelligence Scale for Children). Assessment of adaptive functioning (Vineland Adaptive Behaviour Scales).
Laboratory Investigations: Chromosomal analysis (karyotyping for Down syndrome). Metabolic screening (for PKU, hypothyroidism). Neuroimaging (CT, MRI for brain abnormalities).