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Autism Spectrum Disorder

High EvidenceUpdated: 2025-12-22

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Red Flags

  • Severe self-injurious behaviour
  • Acute behavioural disturbance due to unrecognizable medical pain
  • Catatonia (rare but serious complication)
  • Carer burnout/breakdown
Overview

Autism Spectrum Disorder

1. Overview

Autism Spectrum Disorder (ASD) is a lifelong neurodevelopmental condition characterized by persistent deficits in social communication and interaction coupled with restricted, repetitive patterns of behaviour, interests, or activities.

Key Concept: Neurodiversity

Modern understanding frames ASD not solely as a disorder to be cured, but as a form of neurodiversity - a different way of processing information, sensory input, and social interaction. Clinicians should focus on supporting needs and accommodating differences rather than "normalizing" behaviour.

Epidemiology

FactorDetails
Prevalence~1-2% of population
Gender Ratio3:1 (Male:Female) - likely bias in diagnosing females
HeritabilityHigh (60-90%)
Comorbidities70% have at least one co-occurring condition

2. Pathophysiology (Neurobiology)
┌─────────────────────────────────────────────────────────────────────────────┐
│                       ASD NEUROBIOLOGY & PROCESSING                         │
├─────────────────────────────────────────────────────────────────────────────┤
│                                                                             │
│   ┌─────────────────────────────────────────────────────────────────────┐   │
│   │                 GENETIC & ENVIRONMENTAL FACTORS                     │   │
│   │  • Polygenic risk (hundreds of genes involved)                      │   │
│   │  • Prenatal factors (valproate, advanced parental age)              │   │
│   │  • Altered synaptic pruning & connectivity                          │   │
│   └─────────────────────────────────────────────────────────────────────┘   │
│                                    ↓                                        │
│   ┌─────────────────────────────────────────────────────────────────────┐   │
│   │                ALTERED NEURAL CONNECTIVITY                          │   │
│   │  • Local Hyper-connectivity (Detailed processing)                   │   │
│   │  • Long-range Hypo-connectivity (Integration of concepts)           │   │
│   │  • "Theory of Mind" network differences                             │   │
│   └─────────────────────────────────────────────────────────────────────┘   │
│                                    ↓                                        │
│        ┌──────────────────────┬──────────────────────────────────────┐      │
│        ↓                      ↓                                      ↓      │
│   ┌─────────┐          ┌─────────────┐                    ┌─────────────┐   │
│   │ SENSORY │          │  SOCIAL     │                    │ COGNITIVE   │   │
│   │ ATYPICAL│          │  COGNITION  │                    │ FLEXIBILITY │   │
│   └─────────┘          └─────────────┘                    └─────────────┘   │
│        ↓                      ↓                                  ↓          │
│   • Hypo/Hyper         • Difficulty reading              • Preference for   │
│     sensitivity          cues                              routine          │
│   • Sensory over-      • Literal interpretation          • Special interests│
│     load               • Masking (Compensation)          • Repetitive       │
│                                                            movements        │
└─────────────────────────────────────────────────────────────────────────────┘

The "Female Phenotype"

Females with ASD are often diagnosed later or missed because they:

  • Use Camouflaging/Masking (consciously imitating social behaviour).
  • Have special interests that are socially acceptable (e.g., animals, literature vs trains/numbers).
  • Present with internalizing symptoms (anxiety, eating disorders) rather than behavioural disruption.

3. Clinical Features (DSM-5 Criteria)

A. Social Communication Deficits (All 3 required)

  1. Deficits in Social-Emotional Reciprocity:
    • Failure of back-and-forth conversation.
    • Reduced sharing of interests/emotions.
  2. Deficits in Non-Verbal Communication:
    • Abnormal eye contact.
    • Lack of facial expression / gestures.
  3. Deficits in Developing/Maintaining Relationships:
    • Difficulty adjusting behaviour to social context.
    • Difficulty making friends or absence of interest in peers.

B. Restricted, Repetitive Patterns (At least 2 required)

  1. Stereotyped movements/speech: Hand flapping, rocking, echolalia, lining up toys.
  2. Insistence on sameness: Extreme distress at small changes, rigid routines.
  3. Highly restricted, fixated interests: Abnormal intensity or focus.
  4. Sensory anomalies: Hyper- or hypo-reactivity to sensory input (pain, sound, texture, smell).

4. Diagnosis

Assessment Process

Diagnosis is clinical, based on developmental history and observation.

Gold Standard Instruments:

  • ADOS-2 (Autism Diagnostic Observation Schedule): Structured observation.
  • ADI-R (Autism Diagnostic Interview-Revised): Detailed carer interview.
  • Adults: RAADS-R, AQ-10 (Screening), followed by clinical interview (e.g., DISCO/AAA).

Differential Diagnosis

ConditionKey Differentiators
Social AnxietyFear of social situations, but intact social skills/understanding when comfortable.
ADHDPoor attention/impulsivity, but social reciprocity usually intact. (Note: 30-50% co-occurrence).
OCDRepetitive behaviours are egodystonic (unwanted) vs ASD interests which are egosyntonic (enjoyable).
Personality DisorderHistory of trauma, unstable relationships vs developmental history of social deficit.

5. Management Framework
┌─────────────────────────────────────────────────────────────────────────────┐
│                    ASD MANAGEMENT & SUPPORT FRAMEWORK                       │
├─────────────────────────────────────────────────────────────────────────────┤
│                                                                             │
│   PERSON-CENTRED APPROACH (No "one size fits all")                          │
│                          ↓                                                  │
│   ┌─────────────────────────────────────────────────────────────────────┐   │
│   │                 ENVIRONMENTAL ADAPTATIONS (SPELL)                   │   │
│   │  • STRUCTURE: Visual timetables, clear routines                     │   │
│   │  • POSITIVE: Focus on strengths/interests                           │   │
│   │  • EMPATHY: Understand behaviour as communication                   │   │
│   │  • LOW AROUSAL: Reduce sensory noise/clutter                        │   │
│   │  • LINKS: Partnership with family/carers                            │   │
│   └─────────────────────────────────────────────────────────────────────┘   │
│                          ↓                                                  │
│   ┌─────────────────────────────────────────────────────────────────────┐   │
│   │                 TREAT CO-OCCURRING CONDITIONS                       │   │
│   │  • Anxiety/Depression: SSRIs, adapted CBT                           │   │
│   │  • ADHD: Stimulants (Methylphenidate)                               │   │
│   │  • Sleep: Melatonin                                                 │   │
│   │  • Epilepsy: Anticonvulsants                                        │   │
│   │  • GI Issues: Diet, laxatives                                       │   │
│   └─────────────────────────────────────────────────────────────────────┘   │
│                          ↓                                                  │
│   ┌─────────────────────────────────────────────────────────────────────┐   │
│   │                 SKILL DEVELOPMENT & THERAPY                         │   │
│   │  • Speech & Language: Communication aids (PECS)                     │   │
│   │  • Occupational Therapy: Sensory integration, daily living skills   │   │
│   │  • Psychoeducation: Understanding diagnosis (Post-diagnostic group) │   │
│   └─────────────────────────────────────────────────────────────────────┘   │
│                          ↓                                                  │
│   ┌─────────────────────────────────────────────────────────────────────┐   │
│   │                 PHARMACOLOGY (System Based)                         │   │
│   │  • NO drug treats core ASD symptoms                                 │   │
│   │  • Risperidone/Aripiprazole: Only for severe irritability/aggres-   │   │
│   │    sion (Short term, low dose)                                      │   │
│   └─────────────────────────────────────────────────────────────────────┘   │
│                                                                             │
└─────────────────────────────────────────────────────────────────────────────┘

The SPELL Framework (National Autistic Society)

  • Structure
  • Positive approaches and expectations
  • Empathy
  • Low arousal
  • Links

Adapted Psychological Therapy

CBT can be effective for anxiety in ASD but requires adaptation:

  • More concrete/visual materials.
  • Less reliance on abstract metaphor.
  • Focus on logical rules.
  • Incorporating special interests.

6. Comorbidities (The Rule, Not Exception)
  • Mental Health: Anxiety (40-50%), Depression (30%), ADHD (30-50%).
  • Neurological: Epilepsy (10-30%), Tics/Tourette's.
  • Medical: GI disorders (constipation/pain), Sleep disorders (melatonin deficiency).

7. Prognosis
  • Variable and dependent on IQ and language development.
  • Early Intervention: Improves outcomes significantly.
  • Adults: Many lead independent lives; others require lifelong care.
  • Burnout: Autistic burnout (from excessive masking) is a common cause of regression in adults.

8. Special Considerations

Meltdowns vs Tantrums

  • Tantrum: Goal-oriented (wants something), checks for audience, stops when satisfied.
  • Meltdown: Response to overwhelm (sensory/emotional), loss of control, not manipulative, requires time and low arousal to recover.
  • Management: Safety, reduce sensory input, space, do not punish.

Consultations with Autistic Patients

  • Environment: Minimize noise/lights. Book double appointments.
  • Communication: Be literal/direct. Avoid idioms ("take a seat"). Allow processing time.
  • Pain: May have altered pain perception (high or low) or difficulty localizing/expressing it. Behaviour change = check for pain (teeth, ear, stuck bowel).

9. Key Clinical Pearls

Exam-Focused Points

  1. DSM-5 Requirements: Deficits in Social Communication (3/3) AND Repetitive Behaviours (2/4).
  2. Sensory Issues: Now a core diagnostic criterion in DSM-5.
  3. Medication: There is NO medication for core autism. Risperidone is for severe aggression only.
  4. Heritability: Highly genetic (up to 90%).
  5. Masking: Be aware of the female phenotype who may "pass" socially but suffer internally.
  6. Pain rule: In non-verbal patients, new behaviour disturbance = medical pain until proven otherwise.

Common Exam Scenarios

  • Child lining up cars, poor eye contact, delayed speech. (Classic presentation).
  • Adult with "treatment resistant depression", rigid routines, social exhaustion. (Missed ASD).
  • 4-year-old with no speech. Next step? (Audiology first, then developmental assessment).

10. Patient Explanation

What is Autism?

"Autism is a different way of seeing and experiencing the world. It is something you are born with, not something caused by bad parenting or vaccines.

Autistic brains are wired differently:

  • Detail-focused: Great at seeing details others miss.
  • Passionate: Intense focus on specific interests.
  • Sensory sensitivity: Lights, sounds, or textures might feel overwhelming.
  • Social logic: Social rules might feel confusing or illogical, like everyone else has a rulebook you weren't given."

Is it a Disability?

"It can be both a disability and a difference. The distinct strengths (focus, logic, detail) are valuable. However, living in a world not designed for autistic people can be disabling and exhausting."


11. Evidence & Guidelines

Key Guidelines

GuidelineOrganizationYearKey Points
CG128: Autism in <19sNICE2011/2017Multidisciplinary diagnosis, no meds for core sx
CG142: Autism in AdultsNICE2012Diagnosis services, adapted interventions

Evidence-Based Recommendations

RecommendationEvidence Level
Early Intensive Behavioral InterventionHigh
Melatonin for sleepHigh
SSRIs for core symptomsEvidence AGAINST (Do not use)
Atypical Antipsychotics for irritabilityHigh (Risperidone/Aripiprazole)
Gluten/Casein Free DietInsufficient/Weak

12. References
  1. Lord C, et al. Autism spectrum disorder. Nat Rev Dis Primers. 2020;6(1):5.
  2. NICE Guideline [CG128]. Autism spectrum disorder in under 19s: recognition, referral and diagnosis. 2011.
  3. NICE Guideline [CG142]. Autism spectrum disorder in adults: diagnosis and management. 2012.
  4. Lai MC, et al. The female autism phenotype and camouflaging: a narrative review. Lancet Psychiatry. 2019;6(11):904-914.
  5. Howes OD, et al. Autism spectrum disorder: Consensus guidelines on assessment, diagnosis and clinical management. J Psychopharmacol. 2018.

Last updated: 2025-12-22

At a Glance

EvidenceHigh
Last Updated2025-12-22

Red Flags

  • Severe self-injurious behaviour
  • Acute behavioural disturbance due to unrecognizable medical pain
  • Catatonia (rare but serious complication)
  • Carer burnout/breakdown

Guidelines

  • NICE Guidelines
  • BTS Guidelines
  • RCUK Guidelines