An introduction to autism

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An introduction to autism

• Contributor
• Dr C M Ni Bhrolchain
• Huntingdon

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Prevalence of autism

• Original prevalence estimated at 1 per 10,000
• Now thought that classic autism occurs in 10-30
  per 10,000
• Autistic spectrum disorders occur in another 30
  per 10,000
• TOTAL 60 per 10,000

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Prevalence (cont)

• Prevalence in learning disability
• 50 if IQ lt 50
• 80 if IQ lt 20
• Prevalence is higher than cerebral palsy or
  Downs Symdrome

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The autistic spectrum

• Classic autism with the Kanner criteria
• Autistic features or tendencies do not fulfil all
  the criteria
• Asperger Syndrome or high functioning autism
• Semantic pragmatic language disorder may be
  included

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Diagnosis

• Clinical diagnosis with no defined diagnostic
  tests
• Triad of impairments
• Communication
• Social reciprocity
• Imagination
• Onset before age 3 years

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The causes of autistic spectrum disorders
(Szatmari BMJ 25.1.03)

• Multiple factors have been identified, but a
  unifying cascade of events is still elusive
• Perhaps the most important advance was the
  discovery that genetic factors have a key role.

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The causes of autistic spectrum disorders (cont.)

• In spite of recent publicity, there is good
  epidemiological evidence that MMR is not an
  environmental risk factor for autism
• The difficulty of conducting sound studies of
  causation has now led some health practitioners
  to encourage parents to act upon very poor
  quality data and vigorously pursue hypothetical
  causes

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How do they present?

• Parents worried about
• Speech and language delay
• Behaviour
• Lack of understanding
• Professional concern
• Child health surveillance
• Nursery or playgroup

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Screening for autism

• Not recommended
• CHAT questionnaire
• Very high predictive value if positive
• Not sensitive misses 75
• Useful for HVs to use as a framework to consider
  social communication skills in young children but
  not a good screening test

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Absolute indications for referral (NAPC 2003)

• No babble, pointing or other gesture by 12 months
• No single words by 18 months
• No 2-word phrases (not echoed) by 24 months
• ANY loss of any language or social skills at ANY
  age

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Diagnosis

• Based on history, assessment and investigation
• Rating scales and formal interviews may help in
  certain cases
• Assessment must be multiprofessional and in more
  than one setting. Behaviour at nursery may be
  very helpful information

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Impaired communication (younger)

• Delayed language esp understanding
• Poor response to name
• Lack of pointing or using only for what they
  want, not to share interest (Look Mummy!)
• Failure to smile socially to share enjoyment
• Failure to respond to others smiles

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Impaired communication (older)

• Abnormal language devt including muteness
• Odd patterns or intonation
• Echolalia beyond expected age
• Reversing pronouns using he for self beyond 3
• Unusual or advanced vocabulary
• Unusual use of language or tendency to talk only
  on specific (often factual) topics

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Social impairments (younger)

• Limited copying of actions e.g. clapping
• Lack of showing
• Lack of interest in other children
• Reduced recognition of others happiness, distress
  or anger
• Failure to initiate contact or play with others
• Prefers solitary play
• Too friendly or ignores adults

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Social impairments (older)

• Unable to join in with others
• Inappropriate attempts to join in (may become
  aggressive or disruptive)
• Lack of awareness of classroom norms e.g.
  criticises teacher, unwilling to cooperate,
  doesnt fit in
• Overwhelmed by social stimulation
• Resists invasion of personal space or being
  hurried

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Impaired imagination (younger)

• Limited variety of imaginative play
• May re-enact verbatim from videos
• Limited pretence or joining in with others
• Repetitive play e.g. lining up toys, spinning,
  flicking, switching on and off
• Liking for sameness and/or resists change more
  than expected for age
• More interested in how things work than playing
  with them

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Impaired imagination (older)

• Lack of flexibility and cooperation in play with
  peers. Likes to control games
• May re-enact videos verbatim
• Difficulty in unstructured situations e.g. play
  time, lunch time, choosing own activities
• Difficulty coping with change even when pleasant
  e.g. school trip
• Unusual interests e.g. train timetables

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Other behaviours

• Oversensitivity to sound, touch or other senses
• Unusual profile of skills with social and motor
  skills below expected but general knowledge,
  reading or vocabulary above (though may not
  understand what is read)
• Unusual movements

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Initial assessment

• Identify concerns
• Developmental and family history
• Physical and neurodevelopmental examination

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Multiprofessional assessment

• Psychology
• Education
• Speech and language therapy
• Medical and developmental
• OT, physio, dietetics
• Family support
• Social services
• Administration

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Investigation

• 10 - 15 have underlying cause
• Investigations may include
• FBC
• Metabolic screens
• CPK
• TFTs
• Fragile X Retts syndrome
• Brain imaging
• EEG

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Medical management

• Largely supportive after diagnosis
• Drugs not usually helpful but beginning to be
  tried and may be required for depression
• Investigate for underlying causes e.g. fragile X
  tuberose sclerosis
• Consider co-morbid conditions e.g. dyspraxia,
  epilepsy (10 x normal population), emotional
  effects

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Useful interventions

• Written care plan for the family after diagnosis
• Information and explanation at all stages
• Contact with support groups
• Education, informed by the diagnosis
• Appropriate therapy support
• Adjustment to needs over time