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Autism spectrum disorder

Specialties > Child health

Background knowledge 🧠

Definition

  • Neurodevelopmental disorder affecting communication, behaviour, and social interaction.
  • Wide range of presentations, hence ‘spectrum’.
  • Includes conditions previously separately classified (e.g., Asperger syndrome).

Epidemiology

  • Prevalence in the UK: approximately 1 in 100 people.
  • More common in males (4:1 ratio).
  • Symptoms usually recognized by age 2-3 years.
  • No significant socioeconomic or ethnic disparities.

Aetiology and Pathophysiology

  • Complex and multifactorial causes.
  • Genetic factors play a significant role (high heritability).
  • Environmental influences (e.g., prenatal exposure to toxins).
  • Brain structure and connectivity abnormalities.
  • Imbalance of excitatory and inhibitory neural networks.

Types

  • Autistic Disorder: Significant language and intellectual impairments.
  • Asperger Syndrome: No significant delay in language or cognitive development.
  • Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS): Atypical autism.

Clinical Features 🌡️

Symptoms

  • Impaired social interactions (e.g., difficulty understanding social cues).
  • Communication difficulties (e.g., delayed speech, echolalia).
  • Repetitive behaviours (e.g., hand-flapping, insistence on sameness).
  • Restricted interests (e.g., intense focus on specific topics).
  • Sensory sensitivities (e.g., hyper- or hypo-reactivity to sensory input).

Signs

  • Lack of eye contact.
  • Unusual prosody or speech patterns.
  • Difficulty with transitions or changes in routine.
  • Poor motor coordination.
  • May have associated conditions (e.g., epilepsy, ADHD).

Investigations 🧪

Tests

  • Diagnosis is clinical, based on DSM-5 or ICD-10 criteria.
  • Developmental history and observations.
  • Screening tools (e.g., M-CHAT for toddlers).
  • Genetic testing if dysmorphic features or intellectual disability present.
  • Consider EEG if seizures are suspected.

Management 🥼

Management

  • Multidisciplinary approach (e.g., paediatrician, psychologist, speech therapist).
  • Behavioural interventions (e.g., Applied Behavioural Analysis).
  • Educational support (e.g., Individual Education Plans).
  • Medication for co-morbidities (e.g., antipsychotics for irritability).
  • Parental support and training.

Complications

  • Increased risk of anxiety and depression.
  • Potential for self-injurious behaviours.
  • Social isolation and bullying.
  • Challenges in transitioning to adulthood.
  • Higher rates of unemployment in adults.

Prognosis

  • Varies widely; some individuals live independently, others need lifelong support.
  • Early intervention improves outcomes.
  • Ongoing support often needed through adulthood.
  • Comorbid conditions may influence prognosis.
  • Better outcomes with strong social support systems.

Key Points

  • ASD is a spectrum disorder with varying presentations.
  • Diagnosis is based on clinical criteria and observation.
  • Early diagnosis and intervention are crucial.
  • Management requires a multidisciplinary approach.
  • Support is essential for both patients and their families.

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Child health