An introduction to autism

1. An introduction to autism Contributor Dr C M Ni Bhrolchain Huntingdon

2. 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

3. Prevalence (cont) Prevalence in learning disability: 50% if IQ < 50 80% if IQ < 20 Prevalence is higher than cerebral palsy or Down�s Symdrome

4. 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

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

6. 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�.

7. 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�

8. How do they present? Parents worried about: Speech and language delay Behaviour Lack of understanding Professional concern Child health surveillance Nursery or playgroup

9. 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

10. 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

11. 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

12. 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

13. 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

14. 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

15. 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, doesn�t fit in Overwhelmed by social stimulation Resists invasion of personal space or being hurried

16. 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

17. 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

18. 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

19. Initial assessment Identify concerns Developmental and family history Physical and neurodevelopmental examination

20. Multiprofessional assessment Psychology Education Speech and language therapy Medical and developmental OT, physio, dietetics Family support Social services Administration

21. Investigation 10 - 15% have underlying cause Investigations may include: FBC Metabolic screens CPK TFTs Fragile X; Rett�s syndrome Brain imaging EEG

22. 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

23. 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