Autism Spectrum Disorder
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
| Factor | Details |
|---|---|
| Prevalence | ~1-2% of population |
| Gender Ratio | 3:1 (Male:Female) - likely bias in diagnosing females |
| Heritability | High (60-90%) |
| Comorbidities | 70% have at least one co-occurring condition |
┌─────────────────────────────────────────────────────────────────────────────┐
│ 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.
A. Social Communication Deficits (All 3 required)
- Deficits in Social-Emotional Reciprocity:
- Failure of back-and-forth conversation.
- Reduced sharing of interests/emotions.
- Deficits in Non-Verbal Communication:
- Abnormal eye contact.
- Lack of facial expression / gestures.
- 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)
- Stereotyped movements/speech: Hand flapping, rocking, echolalia, lining up toys.
- Insistence on sameness: Extreme distress at small changes, rigid routines.
- Highly restricted, fixated interests: Abnormal intensity or focus.
- Sensory anomalies: Hyper- or hypo-reactivity to sensory input (pain, sound, texture, smell).
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
| Condition | Key Differentiators |
|---|---|
| Social Anxiety | Fear of social situations, but intact social skills/understanding when comfortable. |
| ADHD | Poor attention/impulsivity, but social reciprocity usually intact. (Note: 30-50% co-occurrence). |
| OCD | Repetitive behaviours are egodystonic (unwanted) vs ASD interests which are egosyntonic (enjoyable). |
| Personality Disorder | History of trauma, unstable relationships vs developmental history of social deficit. |
┌─────────────────────────────────────────────────────────────────────────────┐
│ 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.
- 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).
- 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.
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).
Exam-Focused Points
- DSM-5 Requirements: Deficits in Social Communication (3/3) AND Repetitive Behaviours (2/4).
- Sensory Issues: Now a core diagnostic criterion in DSM-5.
- Medication: There is NO medication for core autism. Risperidone is for severe aggression only.
- Heritability: Highly genetic (up to 90%).
- Masking: Be aware of the female phenotype who may "pass" socially but suffer internally.
- 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).
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."
Key Guidelines
| Guideline | Organization | Year | Key Points |
|---|---|---|---|
| CG128: Autism in <19s | NICE | 2011/2017 | Multidisciplinary diagnosis, no meds for core sx |
| CG142: Autism in Adults | NICE | 2012 | Diagnosis services, adapted interventions |
Evidence-Based Recommendations
| Recommendation | Evidence Level |
|---|---|
| Early Intensive Behavioral Intervention | High |
| Melatonin for sleep | High |
| SSRIs for core symptoms | Evidence AGAINST (Do not use) |
| Atypical Antipsychotics for irritability | High (Risperidone/Aripiprazole) |
| Gluten/Casein Free Diet | Insufficient/Weak |
- Lord C, et al. Autism spectrum disorder. Nat Rev Dis Primers. 2020;6(1):5.
- NICE Guideline [CG128]. Autism spectrum disorder in under 19s: recognition, referral and diagnosis. 2011.
- NICE Guideline [CG142]. Autism spectrum disorder in adults: diagnosis and management. 2012.
- Lai MC, et al. The female autism phenotype and camouflaging: a narrative review. Lancet Psychiatry. 2019;6(11):904-914.
- Howes OD, et al. Autism spectrum disorder: Consensus guidelines on assessment, diagnosis and clinical management. J Psychopharmacol. 2018.