Overview
Definition
A neurodevelopmental disorder characterized by persistent deficits in social communication and social interaction, along with restricted, repetitive patterns of behavior, interests, or activities.
Epidemiology
Prevalence ~1 in 36 children (diagnosed increasingly due to widened criteria). 4 times more common in boys.
Etiology & Risk Factors
- Polygenic inheritance with strong environmental modifiers
- Prenatal factors (advanced parental age, maternal valproic acid use)
Clinical Symptoms
- Social communication deficits: Poor eye contact, failure to respond to name, lack of joint attention, inability to share emotions or read social cues, delayed or absent speech
- Restricted/repetitive behaviors: Hand-flapping, rocking, lining up toys, insistence on sameness (extreme distress at routine changes), highly restricted, fixated interests (hyperfocus), hyper- or hypo-reactivity to sensory input (loud sounds, textures)
Clinical Approach
Diagnosis
- DSM-5 criteria requiring deficits in all 3 areas of social communication and at least 2 of restricted/repetitive behaviors
- Standardized developmental evaluation (M-CHAT screen at 18/24 months; ADOS/ADI-R for diagnosis)
Management
- Early behavioral intervention: Applied Behavior Analysis (ABA) therapy
- Speech and language therapy
- Occupational therapy (sensory integration)
- Pharmacotherapy (Risperidone or Aripiprazole) only to manage severe irritability, aggression, or self-injurious behavior
Complications
- Severe learning and language difficulties
- Social isolation
- Caregiver burnout