Pitfalls in autism diagnosis

Pitfalls in autism diagnosis For ST4-5 trainees 2007 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 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 High functioning autism • Normal intelligence but early language delay. Early on may appear more severely autistic. 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 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 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 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 The diagnostic process 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 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) You’re confused! How do you think I feel? 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 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 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 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 Confusing case 3 • Teenager with known ADHD • Showing some socialization difficulties • Behaviour issues • Under CAMHS – could he be seen for ?ASD 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’ 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 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 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 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… 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 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 Confusing case 7 • Child with significant hearing loss • Wears hearing aids • Parents both deaf • Very difficult behaviour home and school 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 Confusing case 8 • Blind child • Born prem • Obsessive behaviours • Lots of unusual repetitive movements • Speech delay and some unusualness to speech 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 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 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 • • • 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 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 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 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 multiagency assessment in more than one setting. Diagnosis may be given by a Paediatrician but only safely if others are involved!