Autism Spectrum Disorders

ASD Unveiled - Spectrum Secrets

• Neurodevelopmental: Deficits in social communication/interaction & Restricted, Repetitive Behaviors (RRBs).
• DSM-5 Snapshot:
  • A: Social communication/interaction deficits (reciprocity, nonverbal, relationships).
  • B: ≥2 RRBs (stereotypies, sameness, fixated interests, sensory issues).
  • C: Early onset; D: Significant impairment.
• Prevalence: ~1 in 100 (WHO); India: ~1 in 68. M:F ~4:1.
• Etiology:
  • Genetic: High heritability (~80%); polygenic. Syndromic: Fragile X.
  • Environmental: Advanced parental age, prenatal valproate. ⚠️ No vaccine link.
• Key Signs:
  • Social: ↓ eye contact, ↓ joint attention.
  • Communication: Delayed speech, echolalia.
  • Behavior: Stereotypies, routines, sensory issues.
• Screening: M-CHAT-R/F (18 & 24 months).

⭐ Red flags: No babbling/pointing by 12 mo, no single words by 16 mo, no 2-word spontaneous phrases by 24 mo.

Red Flags & Features - Spotting ASD

📌 SCR - Core Symptom Domains:

• Social-emotional reciprocity:
  • Impaired joint attention, abnormal social approach.
• Communication (verbal & non-verbal):
  • Delayed speech, poor gesture/eye contact use.
• Restricted, Repetitive Behaviors (RRBs):
  • Stereotyped movements, insistence on sameness, fixated interests.

Developmental Red Flags:

• No babbling by 12 months.
• No pointing/other gestures by 12 months.
• No single words by 16 months.
• No 2-word spontaneous phrases (not just echolalia) by 24 months.
• ⚠️ ANY loss of language/social skills at ANY age.

Co-occurring:

• Intellectual Disability
• ADHD
• Anxiety, Epilepsy
• Sleep/GI issues

⭐ Regression of milestones (language/social skills) after normal development is a major red flag for ASD evaluation.

Pinpointing ASD - Confirming Clues

• Screening: Universal at 18 & 24 months.
  • M-CHAT-R/F: Score 3-7 → Follow-up interview. Score ≥8 → Refer for diagnostic evaluation.
• Comprehensive Diagnostic Evaluation:
  • Detailed history (developmental, medical, family).
  • Standardized tools: ADOS-2 (observation), ADI-R (interview).
  • Multidisciplinary assessment: cognition, language, adaptive behavior.
• Diagnosis: Based on DSM-5 criteria (persistent social communication deficits & restricted, repetitive behaviors/interests - RRBs).
• Differential Diagnoses: Global Developmental Delay, Intellectual Disability, Language Disorders, ADHD, Anxiety, Rett Syndrome.

⭐ M-CHAT-R/F: A score of 0-2 is low risk; 3-7 is medium risk (administer Follow-Up); 8-20 is high risk (refer for diagnosis & eligibility evaluation).

Intervention Roadmap - Supportive Steps

• Early Intervention: Critical for optimal outcomes; initiate as soon as ASD is suspected.
• Multidisciplinary Team: Pediatrician, psychiatrist, psychologist, speech therapist, occupational therapist, special educator.
  • Behavioral: Applied Behavior Analysis (ABA), structured teaching (TEACCH).
  • Educational: Individualized Education Programs (IEPs).
  • Speech & Language Therapy: Address communication deficits.
  • Occupational Therapy: Improve sensory integration, daily living skills.
• Family Support & Training: Essential for consistency and generalization of skills.
• Pharmacotherapy: For co-occurring conditions (e.g., ADHD, anxiety, irritability); Risperidone/Aripiprazole for irritability.

⭐ Early intensive behavioral intervention (EIBI), particularly ABA, is the most evidence-based treatment for improving core ASD symptoms.

High‑Yield Points - ⚡ Biggest Takeaways

• Core deficits: Persistent difficulties in social communication and social interaction.
• Behavioral patterns: Restricted, repetitive behaviors (RRBs), fixated interests, or activities.
• Early onset: Symptoms manifest in early developmental period, typically before age 3.
• Screening: M-CHAT-R/F is a widely used screening tool for toddlers (at 18 & 24 months).
• Etiology: Complex neurodevelopmental disorder with strong genetic predisposition; multifactorial.
• Management: Early intensive behavioral intervention (e.g., ABA) is the cornerstone of treatment.
• Common Co-occurrences: Intellectual disability, ADHD, anxiety disorders, and epilepsy.