Rachel Brooks

What we mean by co-morbidity What 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 morbidity Two or more diagnoses occurring together Causal Associated Random/Co-incidental

Tuberose sclerosis 1:10,000 Autosomal dominant Learning difficulties 50% Epilepsy >80% Skin lesions Brain lesions 40-60% ASD Infantile spasms predispose to ASD M:F ratio not like ASD ?Why a pathway to ASD Frontal or temperoparietal lesions Genetic pathway

Phenylketonuria Untreated PKU Picked up and treated following newborn blood spot screening test (Guthrie) Significant subgroup meet ASD criteria Should not be an issue in Wales Other rare inborn errors of metabolism

Congenital Rubella All young women vaccinated to prevent Rubella infection in pregnancy Learning difficulties Deafness

Visual problems Ocular problems are common in ASD Refractive error and visual function Skilled assessment of vision and visual function is important Congenital Blindness Can have presentation fulfilling criteria for ASD Not specific to one medical diagnosis

Foetal Alcohol Syndrome Characteristic features Behavioural phenotype Dose response effect Some reach ASD diagnostic criterion ?Co-incidence

Associated Diagnoses where ASD occurs more than by chance Neuro-developmental

Co morbid psychiatric disorders 112 children with ASD 70% had 1 diagnosis 40% 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 disorders LD and psychiatric disorders In Simonoff study no relationship with IQ BUT Overshadowing Diagnostic difficulties Requires special skills from CAMHS

ASD and ADHD Common co morbidity ~ 28% * Can confuse diagnosis Poor attention and hyperactivity influence social development Can overshadow * Simonoff E J Am Acad Adolesc Psychiatry (8) year old boy Very hyperactive Running, climbing and impossible to keep safe Started on stimulants early Profound ASD then apparent

Fragile X More than by chance 1,2500-1,4000 Gaze aversion Lang delay and echolalia Perseveration Hypersensitivity to sensory stimuli Stereotypies Need for sameness Social anxiety 15-30% ASD

Epilepsy More common in ASD than general population 17% 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 ASD 28 genetic 3 endocrine 4 infective 5 toxic 3 syndromes with multiple aetiologies 18 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 behaviour Family situation breaking down ASD diagnosed by tertiary team Down and ASD need ASD management

Medical problems overshadow too Boy ~ 8 Severe Congenital heart defect Life saving surgery as a small child Months in hospital Developmental progress and ‘oddities’ put down to hospitalisation and surgery Diagnosis 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 ASD ASD is common It 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