Pitfalls in autism diagnosis For ST4-5 trainees 2007

What is autism? A triad of impairment 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. Triad of impairment but normal early language and normal intelligence. Words by age 2y, simple phrase by age 3y Words by age 2y, simple phrase by age 3y Often diagnosed later when in school when social awkwardness and obsessive interests become recognised. 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 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. 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 1. Non-verbal regulation of social interaction – eye contact, facial expression, social smiling and gesture 2. Peer relations, social play, team play 2. Peer relations, social play, team play 3. Social-emotional reciprocity 3. Social-emotional reciprocity 4. Spontaneous sharing – interests, food, toys, space 4. Spontaneous sharing – interests, food, toys, space

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

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

Other common problems in ASD Eating Eating Sleeping Sleeping Toiletting Toiletting Agression – to self or others Agression – to self or others Excelling in one area – esp. in Aspergers Excelling in one area – esp. in Aspergers Epilepsy is more common and may present as unusual repetitive behaviour 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) Autism screening Questionnaire(ASQ) NAPC developmental history NAPC developmental history ADI (Autism diagnostic interview) ADI (Autism diagnostic interview) 3DI 3DI DISCO (diagnostic interview) DISCO (diagnostic interview) Pragmatics profile, CCC-L (used by SLT) Pragmatics profile, CCC-L (used by SLT) ADOS (semi-formal observation) 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 5y old with moderate developmental delay especially speech/language Some difficult repetitive behaviours and tantrums Some difficult repetitive behaviours and tantrums Difficult behaviour at mainstream school – running off, sometimes destructive Difficult behaviour at mainstream school – running off, sometimes destructive Lives with Dad – Mum mental health problems Lives with Dad – Mum mental health problems Seen school and clinic, EP and SLT info Seen school and clinic, EP and SLT info

Moderate LD Motor skills often fine Motor skills often fine Often Speech and Language main issue initially but poor cognitive skills Often Speech and Language main issue initially but poor cognitive skills Play may be repetitive because limited imagination Play may be repetitive because limited imagination Can find it hard to make friends in mainstream school, but does make social overtures 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 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 Adopted child following neglectful care by mother with LD Mild LD Mild LD Difficult behaviour Difficult behaviour Tries to make friends, often needs adult intervention Tries to make friends, often needs adult intervention Very repetitive play Very repetitive play Unusual hand movements Unusual hand movements Low muscle tone and proprioceptive and sensory difficulties 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 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 Compounded by mild LD Unusual hand movements thought to be due to low muscle tone and proprioceptive difficulties Unusual hand movements thought to be due to low muscle tone and proprioceptive difficulties

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

ADHD with poor socialization Assess with SLT assessment and NAPC developmental history 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 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 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’ 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 4-5y old Reluctant to be left at nursery/school 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 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 No social overtures to other children and wary of their approaches

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

Confusing case 5 Child never integrated in P/G and never went happily Child never integrated in P/G and never went happily Only talks at home Only talks at home No concerns re: learning No concerns re: learning Plays fine with brother Plays fine with brother Some obsessive/repetitive behaviours 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. 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. 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… Difficult to assess language as won’t talk to therapist…

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

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

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

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

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

Blind child with semantic pragmatic language disorder Impossible to assess eye contact and gesturing Impossible to assess eye contact and gesturing Visual impairment does affect social functioning Visual impairment does affect social functioning Ok with other children Ok with other children Repetitive behaviours diminished once occupied and with time as he became more secure in environment, also as speech improved 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 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 Child who refuses to wear certain clothes Issues over washing and toiletting Issues over washing and toiletting Fussy eater Fussy eater Poor sleeper Poor sleeper Won’t use school toilets Won’t use school toilets Over-reacts if someone brushes past him Over-reacts if someone brushes past him Low tolerance for busy situations Low tolerance for busy situations Noise intolerance Noise intolerance

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

Confusing case 10 Mum concerned about child’s behaviour. Mum concerned about child’s behaviour. Tells a good story for ASD Tells a good story for ASD No problems at school No problems at school Child may have some difficulties e.g. speech delay Child may have some difficulties e.g. speech delay Concerns about parenting and social concerns may only come to light later 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 Can co-exist with ASD but parenting issues also need addressing Often come with too good a story Often come with too good a story Child socially good or markedly better out of the home situation Child socially good or markedly better out of the home situation

Diagnostic dilemmas - summary Children with LD Children with LD Attachment disorder Attachment disorder ADHD + ?ASD ADHD + ?ASD Anxiety disorders affecting social functioning Anxiety disorders affecting social functioning Selective mutism Selective mutism Depression Depression Severe hearing impairment Severe hearing impairment Severe visual impairment Severe visual impairment Sensory integration disorder Sensory integration disorder Social and parenting difficulties 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 multi- agency assessment in more than one setting. Diagnosis may be given by a Paediatrician but only safely if others are involved!