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Pitfalls in autism diagnosis

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  1. Pitfalls in autism diagnosis For ST4-5 trainees 2007

  2. What is autism? A triad of impairment -deficits in social interaction -deficits in communication -restricted, repetitive behaviours, interests or activities Present before 3 years of age

  3. Asperger’s syndrome • Triad of impairment but normal early language and normal intelligence. • Words by age 2y, simple phrase by age 3y • Often diagnosed later when in school when social awkwardness and obsessive interests become recognised. • There is unusualness to speech – e.g. formal, pedantic, literal, odd accents

  4. High functioning autism • Normal intelligence but early language delay. Early on may appear more severely autistic.

  5. ICD 10 criteria – social areas • 1. Non-verbal regulation of social interaction – eye contact, facial expression, social smiling and gesture • 2. Peer relations, social play, team play • 3. Social-emotional reciprocity • 4. Spontaneous sharing – interests, food, toys, space

  6. ICD 10 – Communication areas • 1. Early language or non-verbal communicative attempts • 2. Conversation/reciprocal responsiveness • 3. Stereotypic/repetitive/idiosyncratic language • 4. Imagination – social imitative play

  7. ICD 10 - behaviours • 1.obsessive behaviours with unusual or normal interests • 2. Ritualistic behaviours • 3. Hand or body mannerisms • 4. Pre-occupations with part-objects or non-functional (e.g. sensory) materials

  8. Other common problems in ASD • Eating • Sleeping • Toiletting • Agression – to self or others • Excelling in one area – esp. in Aspergers • Epilepsy is more common and may present as unusual repetitive behaviour

  9. Paediatric assessment including development for <5y olds SLT assessment including pragmatics Information from education +/- info form Psychiatry/psychology +/- info from OT Hearing assessment Chromosomes and Fragile X The diagnostic process

  10. Tools used • Autism screening Questionnaire(ASQ) • NAPC developmental history • ADI (Autism diagnostic interview) • 3DI • DISCO (diagnostic interview) • Pragmatics profile, CCC-L (used by SLT) • ADOS (semi-formal observation)

  11. You’re confused! How do you think I feel?

  12. Confusing cases 1 • 5y old with moderate developmental delay especially speech/language • Some difficult repetitive behaviours and tantrums • Difficult behaviour at mainstream school – running off, sometimes destructive • Lives with Dad – Mum mental health problems • Seen school and clinic, EP and SLT info

  13. Moderate LD • Motor skills often fine • Often Speech and Language main issue initially but poor cognitive skills • Play may be repetitive because limited imagination • Can find it hard to make friends in mainstream school, but does make social overtures • Behaviour problems as not able to understand what is required of them and attention poor as in line with development

  14. Confusing case 2 • Adopted child following neglectful care by mother with LD • Mild LD • Difficult behaviour • Tries to make friends, often needs adult intervention • Very repetitive play • Unusual hand movements • Low muscle tone and proprioceptive and sensory difficulties

  15. Attachment disorder • Early history caused attachment disorder and contributed to some of the sensory behaviour – hated being strapped in car seat, cuddle resistant • Compounded by mild LD • Unusual hand movements thought to be due to low muscle tone and proprioceptive difficulties

  16. Confusing case 3 • Teenager with known ADHD • Showing some socialization difficulties • Behaviour issues • Under CAMHS – could he be seen for ?ASD

  17. ADHD with poor socialization • Assess with SLT assessment and NAPC developmental history • Find out what the difficulties are in school – gets into fights, runs out of lessons, particularly bad if supply teacher • ADHD children are often poor socially because they don’t pay attention in social situations • ASD can be hidden by ADHD, but often need to see if better in less distracting situation and do they have good ‘theory of mind’

  18. Confusing case 4 • 4-5y old • Reluctant to be left at nursery/school • Fearful of noise and rain, very safety conscious – insists seatbelt done up, checks things are done as she demands • No social overtures to other children and wary of their approaches

  19. Anxiety disorders • Can lead to obsessive behaviours • Can mean a child is very reluctant to socialize • Much better in familiar environments with parent close by • Usually normal play • Normal speech and language with no oddness to it

  20. Confusing case 5 • Child never integrated in P/G and never went happily • Only talks at home • No concerns re: learning • Plays fine with brother • Some obsessive/repetitive behaviours

  21. Selective mutism • Could be seen as an extreme anxiety disorder where child will talk at home and not at school ( or only to 1-2 people at school. • However some people would see this as bordering on ASD so may take a lot of sorting out. • Difficult to assess language as won’t talk to therapist…

  22. Confusing case 6 • Teenager • H/o juvenile chronic arthritis when younger • Very reluctant speaker out of the home –has elective mutism diagnosis • Has some friends but doesn’t make an effort to have them round • Lacks motivation about what to do after school • Worried about her weight – recent diagnosis of hypothyroidism • Mother wonders about ASD

  23. Depression • Doing ok at school with support • Very flat affect and little facial expression • Not motivated to socialize but can enjoy friends when makes the effort • No unusualness about speech – will now talk more freely though some anxiety • No repetitive or obsessive behaviours • Below cut off on ASQ

  24. Confusing case 7 • Child with significant hearing loss • Wears hearing aids • Parents both deaf • Very difficult behaviour home and school

  25. Hearing impairment and autism • Communication may be less sophisticated because of hearing loss. • Look at play • Look at communicative attempts • Use an interpreter • Look at non-verbal communication

  26. Confusing case 8 • Blind child • Born prem • Obsessive behaviours • Lots of unusual repetitive movements • Speech delay and some unusualness to speech

  27. Blind child with semantic pragmatic language disorder • Impossible to assess eye contact and gesturing • Visual impairment does affect social functioning • Ok with other children • Repetitive behaviours diminished once occupied and with time as he became more secure in environment, also as speech improved • Sensory seeking behaviours are very common in blind children – may need to observe over a couple of years to get clarity re: ASD

  28. Confusing case 9 • Child who refuses to wear certain clothes • Issues over washing and toiletting • Fussy eater • Poor sleeper • Won’t use school toilets • Over-reacts if someone brushes past him • Low tolerance for busy situations • Noise intolerance

  29. Sensory integration disorder • Some children have such difficulty processing sensory information appropriately that they present with abnormal behaviours and social difficulties. • OT vital • SLT should find normal language • Addressing sensory difficulties results in improved social functioning

  30. Confusing case 10 • Mum concerned about child’s behaviour. • Tells a good story for ASD • No problems at school • Child may have some difficulties e.g. speech delay • Concerns about parenting and social concerns may only come to light later

  31. Social and parenting difficulties • Can co-exist with ASD but parenting issues also need addressing • Often come with too good a story • Child socially good or markedly better out of the home situation

  32. Diagnostic dilemmas - summary • Children with LD • Attachment disorder • ADHD + ?ASD • Anxiety disorders affecting social functioning • Selective mutism • Depression • Severe hearing impairment • Severe visual impairment • Sensory integration disorder • Social and parenting difficulties

  33. All these conditions can co-exist with autistic spectrum disorders but be aware that all that presents as ASD is not. The key thing is to ensure multi-agency assessment in more than one setting. Diagnosis may be given by a Paediatrician but only safely if others are involved!