Rachel Brooks

What we mean by co-morbidityWhat diagnoses do we see along with ASD?How commonly do these occur?What does that mean for our assessment and

management of the child or young person?

Co morbidityTwo or more diagnoses occurring together

Causal

Associated

Random/Co-incidental

Tuberose sclerosis1:10,000 Autosomal dominantLearning difficulties 50%Epilepsy >80%Skin lesionsBrain lesions

40-60% ASD Infantile spasms predispose to

ASDM:F ratio not like ASD

?Why a pathway to ASD•Frontal or temperoparietal lesions•Genetic pathway

PhenylketonuriaUntreated PKUPicked up and treated following newborn blood spot

screening test (Guthrie)Significant subgroup meet ASD criteriaShould not be an issue in WalesOther rare inborn errors of metabolism

Congenital RubellaAll young women vaccinated to prevent Rubella

infection in pregnancyLearning difficultiesDeafness

Visual problemsOcular problems are

common in ASDRefractive error and

visual functionSkilled assessment of

vision and visual function is important

Congenital BlindnessCan have presentation

fulfilling criteria for ASDNot specific to one

medical diagnosis

Foetal Alcohol SyndromeCharacteristic

featuresBehavioural

phenotypeDose response effect Some reach ASD

diagnostic criterion?Co-incidence

AssociatedDiagnoses where ASD occurs more than by chanceNeuro-developmental

Co morbid psychiatric disorders112 children 10-14 with ASD 70% had 1 diagnosis40% had 2 or more

Social anxiety disorder 29%ADHD 28%Oppositional defiant disorder 28%24% Tourettes, chronic tics, Trichotillomania, enuresis etc

Simonoff et al 2008

Co morbid psychiatric disordersLD and psychiatric disordersIn Simonoff study no relationship with IQ

BUTOvershadowing Diagnostic difficultiesRequires special skills from CAMHS

ASD and ADHDCommon co morbidity~ 28% *Can confuse diagnosis Poor attention and

hyperactivity influence social development

Can overshadow

*Simonoff E J Am Acad Adolesc Psychiatry 2008 47(8) 921-9

4 year old boy Very hyperactive Running, climbing and

impossible to keep safeStarted on stimulants

earlyProfound ASD then

apparent

Fragile XMore than by chance1,2500-1,4000Gaze aversionLang delay and echolaliaPerseverationHypersensitivity to sensory

stimuliStereotypiesNeed for samenessSocial anxiety

15-30% ASD

EpilepsyMore common in ASD than

general population17%Partly due to the causal and

associated diagnoses which predispose to epilepsy

E.g. Tuberose sclerosis

Angelmans

Fragile X

Increases with the severity of underlying brain dysfunction

•Any kind of Epilepsy can occur in ASD

Epilepsy 2 Most commonly

appears in first 3 years of life

Another peak at puberty

Landau-Kleffner

Infantile spasms (West Syndrome)

Now add in the random diagnoses coexisting with ASD28 genetic3 endocrine4 infective5 toxic3 syndromes with multiple aetiologies18 single case reports Gillberg and Coleman 2000

And I can add more ……

ASD is common 0.6 – 1% of the population

Beware of diagnostic overshadowing

Boy with Down syndrome (1:800)

Challenging behaviourFamily situation

breaking downASD diagnosed by

tertiary teamDown and ASD need

ASD management

Medical problems overshadow tooBoy ~ 8Severe Congenital heart defectLife saving surgery as a small childMonths in hospitalDevelopmental progress and ‘oddities’ put down to

hospitalisation and surgeryDiagnosis of ASD and LDs

Not a simple equation!A combination of

conditions doesn’t just have a simple additive effect

It can be more than that

You need to unpick a child's strengths and difficulties to understand this and meet their needs

Children with ASD are not just their ASDASD is commonIt will occur more

commonly with other common diagnoses

Some, particularly neuro-developmental disorders occur more commonly with ASD

Children with ASD can have almost anything else

Beware of overshadowing

Be aware of common co-morbidities

Children with co morbidity need assessment not assumptions